# The Comparative Toxicogenomics Database (CTD) - http://ctdbase.org/ # Copyright 2002-2012 MDI Biological Laboratory. All rights reserved. # Copyright 2012-2023 NC State University. All rights reserved. # # # Use is subject to the terms set forth at http://ctdbase.org/about/legal.jsp # These terms include: # # 1. All forms of publication (e.g., web sites, research papers, databases, # software applications, etc.) that use or rely on CTD data must cite CTD. # Citation guidelines: http://ctdbase.org/about/publications/#citing # # 2. All electronic or online applications must include hyperlinks from # contexts that use CTD data to the applicable CTD data pages. # Linking instructions: http://ctdbase.org/help/linking.jsp # # 3. You must notify CTD, and describe your use of our data: # http://ctdbase.org/help/contact.go # # 4. For quality control purposes, you must provide CTD with periodic # access to your publication of our data. # # More information: http://ctdbase.org/downloads/ # # Report created: Fri Oct 27 12:42:39 EDT 2023 # # Fields: # DiseaseName DiseaseID AltDiseaseIDs Definition ParentIDs TreeNumbers ParentTreeNumbers Synonyms SlimMappings # 10p Deletion Syndrome (Partial) MESH:C538288 MESH:D002872|MESH:D025063 C16.131.260/C538288|C16.320.180/C538288|C23.550.210.050.500.500/C538288 C16.131.260|C16.320.180|C23.550.210.050.500.500 Chromosome 10, 10p- Partial|Chromosome 10, monosomy 10p|Chromosome 10, Partial Deletion (short arm)|Monosomy 10p Congenital abnormality|Genetic disease (inborn)|Pathology (process) 13q deletion syndrome MESH:C535484 MESH:D002872|MESH:D025063 C16.131.260/C535484|C16.320.180/C535484|C23.550.210.050.500.500/C535484 C16.131.260|C16.320.180|C23.550.210.050.500.500 Chromosome 13q deletion|Chromosome 13q deletion syndrome|Chromosome 13q monosomy|Chromosome 13q syndrome|Deletion 13q|Deletion 13q syndrome|Monosomy 13q|Monosomy 13q syndrome|Orbeli's syndrome|Orbeli syndrome Congenital abnormality|Genetic disease (inborn)|Pathology (process) 15q24 Microdeletion MESH:C579849 DO:DOID:0060395 MESH:D002872|MESH:D008607|MESH:D025063 C10.597.606.360/C579849|C16.131.260/C579849|C16.320.180/C579849|C23.550.210.050.500.500/C579849|C23.888.592.604.646/C579849|F03.625.539/C579849 C10.597.606.360|C16.131.260|C16.320.180|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.539 15q24 Deletion|15q24 Microdeletion Syndrome|Interstitial Deletion of Chromosome 15q24 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms 16p11.2 Deletion Syndrome MESH:C579850 MESH:D001321|MESH:D002872|MESH:D008607|MESH:D025063 C10.597.606.360/C579850|C16.131.260/C579850|C16.320.180/C579850|C23.550.210.050.500.500/C579850|C23.888.592.604.646/C579850|F03.625.164.113.500/C579850|F03.625.539/C579850 C10.597.606.360|C16.131.260|C16.320.180|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.164.113.500|F03.625.539 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms 17,20-Lyase Deficiency, Isolated MESH:C567076 MESH:D000312 C12.050.351.875.253.090.500/C567076|C12.200.706.316.090.500/C567076|C12.800.316.090.500/C567076|C16.131.939.316.129.500/C567076|C16.320.033/C567076|C16.320.565.925.249/C567076|C18.452.648.925.249/C567076|C19.053.440/C567076|C19.391.119.090.500/C567076 C12.050.351.875.253.090.500|C12.200.706.316.090.500|C12.800.316.090.500|C16.131.939.316.129.500|C16.320.033|C16.320.565.925.249|C18.452.648.925.249|C19.053.440|C19.391.119.090.500 17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Complete|17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Partial Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) 17-Hydroxysteroid Dehydrogenase Deficiency MESH:C537805 OMIM:264300 MESH:D006177|MESH:D043202|MESH:D058490 C12.050.351.875.253.096/C537805|C12.200.706.316.096/C537805|C12.800.316.096/C537805|C16.131.939.316.096/C537805|C16.320.565.925/C537805|C17.800.090.875/C537805|C18.452.648.925/C537805|C19.391.119.096/C537805 C12.050.351.875.253.096|C12.200.706.316.096|C12.800.316.096|C16.131.939.316.096|C16.320.565.925|C17.800.090.875|C18.452.648.925|C19.391.119.096 17 alpha ketosteroid reductase deficiency of testis|17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency|17 Beta-hydroxysteroid dehydrogenase deficiency|17-Beta Hydroxysteroid Dehydrogenase III Deficiency|17-Ketosteroid Reductase Deficiency Of Testis|17-Ksr Deficiency|Male pseudohermaphroditism with gynecomastia|Neutral 17 beta-hydroxysteroid oxidoreductase deficiency|Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency|Pseudohermaphroditism, Male, with Gynecomastia|PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARY SYNDROME DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY, INCLUDED Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) 18-Hydroxylase deficiency MESH:C537806 OMIM:203400|OMIM:610600 MESH:D006994 C19.053.500.480/C537806 C19.053.500.480 18-alpha hydroxylase deficiency|18-HYDROXYLASE DEFICIENCY|18-Oxidase Deficiency|Aldosterone deficiency 1|Aldosterone deficiency due to defect in 18-hydroxylase|ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE|ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE|ALDOSTERONE DEFICIENCY I|ALDOSTERONE DEFICIENCY II|Aldosterone Deficiency Type I|Aldosterone Deficiency Type II|CMO I Deficiency|CMO II Deficiency|Corticosterone methyloxidase type 1 deficiency|Corticosterone Methyloxidase Type I Deficiency|Corticosterone Methyloxidase Type II Deficiency|FHHA1A|FHHA1B|HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1|Hyperreninemic Hypoaldosteronism, Familial, Type I|Steroid 18-Hydroxylase Deficiency|Steroid 18-Oxidase Deficiency Endocrine system disease 22q11 Deletion Syndrome MESH:D058165 Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. MESH:D000015|MESH:D006330|MESH:D007011|MESH:D019465|MESH:D025063|MESH:D044148 C05.660.207.103|C14.240.400.021|C14.280.400.044|C15.604.451.249|C16.131.077.019|C16.131.240.400.021|C16.131.260.019|C16.131.482.249|C16.131.621.207.103|C16.320.180.019|C19.642.482.500 C05.660.207|C14.240.400|C14.280.400|C15.604.451|C16.131.077|C16.131.240.400|C16.131.260|C16.131.482|C16.131.621.207|C16.320.180|C19.642.482 22q11 Deletion Syndromes|Deletion Syndrome, 22q11|Deletion Syndromes, 22q11|Syndrome, 22q11 Deletion|Syndromes, 22q11 Deletion Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Lymphatic disease|Musculoskeletal disease 2,4-Dienoyl-CoA Reductase Deficiency MESH:C565624 OMIM:616034 MESH:D008052 C16.320.565.398/C565624|C18.452.584.563/C565624|C18.452.648.398/C565624 C16.320.565.398|C18.452.584.563|C18.452.648.398 DECRD Genetic disease (inborn)|Metabolic disease 2-hydroxyethyl methacrylate sensitization MESH:C535305 MESH:D017449 C17.800.174.255.100/C535305|C17.800.815.255.100/C535305|C20.543.418.150/C535305 C17.800.174.255.100|C17.800.815.255.100|C20.543.418.150 Sensitization to 2-hydroxyethyl methacrylate Immune system disease|Skin disease 2-Hydroxyglutaricaciduria MESH:C535306 DO:DOID:0050573|OMIM:236792|OMIM:600721|OMIM:613657|OMIM:615182 MESH:D020739 C10.228.140.163.100/C535306|C16.320.565.189/C535306|C18.452.132.100/C535306|C18.452.648.189/C535306 C10.228.140.163.100|C16.320.565.189|C18.452.132.100|C18.452.648.189 2-Hga|2-Hydroxyglutaric Aciduria|Combined D-2- and L-2-hydroxyglutaric aciduria|D-2-HGA|D2HGA|D2HGA1|D2HGA2|D-2-Hydroxyglutaric Acidemia|D-2-hydroxyglutaric aciduria|D-2-HYDROXYGLUTARIC ACIDURIA 1|D-2-HYDROXYGLUTARIC ACIDURIA 2|D-2-hydroxyglutaric and L-2-hydroxyglutaric aciduria|D2L2AD|L-2-HGA|L2HGA|L-2-Hydroxyglutaric Acidemia|L-2-hydroxyglutaric aciduria Genetic disease (inborn)|Metabolic disease|Nervous system disease 2-Methylacetoacetyl CoA thiolase deficiency MESH:C535307 MESH:D000592 C16.320.565.100/C535307|C18.452.648.100/C535307 C16.320.565.100|C18.452.648.100 Genetic disease (inborn)|Metabolic disease 2-Methylbutyryl-CoA Dehydrogenase Deficiency MESH:C566487 OMIM:610006 MESH:D000592 C16.320.565.100/C566487|C18.452.648.100/C566487 C16.320.565.100|C18.452.648.100 2-ethylhydracylic aciduria|2-MBCD Deficiency|2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency|2-Methylbutyryl Glycinuria|Elevated urinary 2-ethylhydracylic acid|Elevated urinary 2-methylbutyrylglycine|SBCADD|Short-Branched-Chain Acyl-CoA Dehydrogenase Deficiency|SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY Genetic disease (inborn)|Metabolic disease 3C syndrome MESH:C535313 DO:DOID:0060565|OMIM:220210|OMIM:300963 MESH:D000015|MESH:D003616|MESH:D006344|MESH:D019465 C05.660.207/C535313|C10.228.140.252.300/C535313|C10.228.140.602.500/C535313|C10.500.205/C535313|C14.240.400.560.375/C535313|C14.280.400.560.375/C535313|C16.131.077/C535313|C16.131.240.400.560.375/C535313|C16.131.621.207/C535313|C16.131.666.205/C535313 C05.660.207|C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C14.240.400.560.375|C14.280.400.560.375|C16.131.077|C16.131.240.400.560.375|C16.131.621.207|C16.131.666.205 3C SYNDROME|CCC dysplasia|Craniocerebellocardiac dysplasia|Dandy-Walker-like malformation with atrioventricular septal defect|Ritscher Schinzel syndrome|Ritscher-Schinzel Syndrome|RITSCHER-SCHINZEL SYNDROME 1|RITSCHER-SCHINZEL SYNDROME 2|RTSC1|RTSC2 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency MESH:C538324 OMIM:246450 MESH:D000592 C16.320.565.100/C538324|C18.452.648.100/C538324 C16.320.565.100|C18.452.648.100 3-Hydroxy-3-Methylglutaric Aciduria|3-Hydroxy 3-Methyl Glutaric Aciduria|3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency|3-Hydroxyl 3-Methyl Glutaric Aciduria|Deficiency of Hydroxymethylglutaryl-CoA Lyase|HL DEFICIENCY|HMGCLD|HMGCL DEFICIENCY|HMG CoA Lyase Deficiency|HMG-CoA Lyase Deficiency|Hydroxymethylglutaric Aciduria Genetic disease (inborn)|Metabolic disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency MESH:C567784 OMIM:605911 MESH:D007003|MESH:D008661|MESH:D028361 C16.320.565/C567784|C18.452.394.984/C567784|C18.452.648/C567784|C18.452.660/C567784 C16.320.565|C18.452.394.984|C18.452.648|C18.452.660 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY|HMGCS2D|HMGCS2 Deficiency|Mitochondrial HMG-CoA Synthase Deficiency Genetic disease (inborn)|Metabolic disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency MESH:C535310 OMIM:231530 MESH:D008661 C16.320.565/C535310|C18.452.648/C535310 C16.320.565|C18.452.648 3-Alpha-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency|3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency|HAD Deficiency|HADH Deficiency|HADHSC Deficiency|L-3-Alpha-Hydroxyacyl-CoA Dehydrogenase, Short Chain, Deficiency|M-SCHAD Deficiency|SCHAD Deficiency|SCHAD DEFICIENCY, FORMERLY Genetic disease (inborn)|Metabolic disease 3-Hydroxyisobutyric aciduria MESH:C535312 MESH:D000592 C16.320.565.100/C535312|C18.452.648.100/C535312 C16.320.565.100|C18.452.648.100 Genetic disease (inborn)|Metabolic disease 3-methylcrotonyl CoA carboxylase 1 deficiency MESH:C535308 DO:DOID:0080579|OMIM:210200 MESH:D056806 C10.228.140.163.100.937/C535308|C16.320.565.100.940/C535308|C16.320.565.189.937/C535308|C18.452.132.100.937/C535308|C18.452.648.100.940/C535308|C18.452.648.189.937/C535308 C10.228.140.163.100.937|C16.320.565.100.940|C16.320.565.189.937|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937 3 alpha methylcrotonylglycinuria 1|3-Mcc Deficiency|3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY|3-Methylcrotonyl-Coa Carboxylase Deficiency|3 Methylcrotonyl-CoA carboxylase deficiency|3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency|3 Methylcrotonylglycinuria|3-Methylcrotonylglycinuria|3-Methylcrotonylglycinuria I|Bmcc Deficiency|Deficiency of Methylcrotonoyl-Coa Carboxylase|MCC1D|MCC1 Deficiency|Mcc Deficiency|MCCD Type 1|methylcrotonoyl-CoA carboxylase 1 deficiency|Methylcrotonyl-Coa Carboxylase Deficiency|Methylcrotonylglycinuria Type I Genetic disease (inborn)|Metabolic disease|Nervous system disease 3-methylcrotonyl CoA carboxylase 2 deficiency MESH:C535309 DO:DOID:0080580|OMIM:210210 MESH:D056806 C10.228.140.163.100.937/C535309|C16.320.565.100.940/C535309|C16.320.565.189.937/C535309|C18.452.132.100.937/C535309|C18.452.648.100.940/C535309|C18.452.648.189.937/C535309 C10.228.140.163.100.937|C16.320.565.100.940|C16.320.565.189.937|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937 3 alpha methylcrotonyl-coa carboxylase 2 deficiency|3 alpha methylcrotonylglycinuria 2|3-Methylcrotonyl-CoA Carboxylase 2 Deficiency|3-Methylcrotonylglycinuria II|MCC2D|MCC2 Deficiency|methylcrotonoyl-CoA carboxylase 2 deficiency|Methylcrotonylglycinuria type 2|Methylcrotonylglycinuria, Type II Genetic disease (inborn)|Metabolic disease|Nervous system disease 3-Methylglutaconic Aciduria MESH:C579867 DO:DOID:0060336 MESH:D008661 C16.320.565/C579867|C18.452.648/C579867 C16.320.565|C18.452.648 3mga (3-Methylglutaconic Aciduria) Genetic disease (inborn)|Metabolic disease 3-Methylglutaconic Aciduria, Type I MESH:C562801 DO:DOID:0110002|OMIM:250950 MESH:D008661 C16.320.565/C562801|C18.452.648/C562801 C16.320.565|C18.452.648 3-Methylglutaconyl-CoA Hydratase Deficiency|3-Mg-CoA-Hydratase Deficiency|MGA1|MGA, Type I|MGCA1 Genetic disease (inborn)|Metabolic disease 3-Methylglutaconic Aciduria Type IV MESH:C565393 DO:DOID:0110006 MESH:D000015|MESH:D008661 C16.131.077/C565393|C16.320.565/C565393|C18.452.648/C565393 C16.131.077|C16.320.565|C18.452.648 MGA4|MGA Type IV Congenital abnormality|Genetic disease (inborn)|Metabolic disease 3-Methylglutaconic Aciduria, Type V MESH:C565706 OMIM:610198 MESH:D002311|MESH:D002524|MESH:D008661 C10.228.140.252.190/C565706|C10.597.350.090.500/C565706|C14.280.195.160/C565706|C14.280.238.070/C565706|C16.320.488.750/C565706|C16.320.565/C565706|C18.452.648/C565706|C23.888.592.350.090.200/C565706 C10.228.140.252.190|C10.597.350.090.500|C14.280.195.160|C14.280.238.070|C16.320.488.750|C16.320.565|C18.452.648|C23.888.592.350.090.200 Cardiomyopathy, Dilated, with Ataxia|DCMA|MGA5|MGA, Type V|MGCA5 Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIB OMIM:616271 DO:DOID:0081134|DO:DOID:0110003 MESH:C579867|MESH:D002386|MESH:D009461|MESH:D009503 C10.597/616271|C11.510.245/616271|C15.378.553.546.184.564/616271|C16.320.565/C579867/616271|C18.452.648/C579867/616271|C23.888.592/616271 C10.597|C11.510.245|C15.378.553.546.184.564|C16.320.565/C579867|C18.452.648/C579867|C23.888.592 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA, AUTOSOMAL RECESSIVE|MEGCANN|MGCA7|MGCA7B Blood disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII OMIM:617248 DO:DOID:0070000 MESH:C579867 C16.320.565/C579867/617248|C18.452.648/C579867/617248 C16.320.565/C579867|C18.452.648/C579867 MGCA8 Genetic disease (inborn)|Metabolic disease 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME OMIM:614739 DO:DOID:0110001 MESH:C579867|MESH:D001927|MESH:D003638|MESH:D007888 C09.218.458.341.186/614739|C10.228.140.163.100.412/614739|C10.228.140/614739|C10.597.751.418.341.186/614739|C16.320.565.189.412/614739|C16.320.565.202.810.444/614739|C16.320.565/C579867/614739|C18.452.132.100.412/614739|C18.452.648.189.412/614739|C18.452.648.202.810.444/614739|C18.452.648/C579867/614739|C18.452.660.520/614739|C23.888.592.763.393.341.186/614739 C09.218.458.341.186|C10.228.140|C10.228.140.163.100.412|C10.597.751.418.341.186|C16.320.565.189.412|C16.320.565.202.810.444|C16.320.565/C579867|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.648/C579867|C18.452.660.520|C23.888.592.763.393.341.186 3-METHYLGLUTACONIC ACIDURIA, TYPE VI|3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME|MEGDEL|MEGDHEL|MGCA6 Ear-nose-throat disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms 46, XX Disorders of Sex Development MESH:D058489 Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical. MESH:D012734 C12.050.351.875.253.064|C12.200.706.316.064|C12.800.316.064|C16.131.939.316.064|C19.391.119.064 C12.050.351.875.253|C12.200.706.316|C12.800.316|C16.131.939.316|C19.391.119 46,XX Disorders of Sex Development|46,XX DSD|46, XX DSD|Female Pseudohermaphroditism|Female Pseudohermaphroditisms|Pseudohermaphroditism, Female|Pseudohermaphroditisms, Female Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,XX Gonadal dysgenesis epibulbar dermoid MESH:C535316 MESH:D003884|MESH:D023961 C04.182.201/C535316|C04.557.465.910.250/C535316|C12.050.351.875.253.064.249/C535316|C12.050.351.875.253.309.193/C535316|C12.200.706.316.064.249/C535316|C12.200.706.316.309.193/C535316|C12.800.316.064.249/C535316|C12.800.316.309.193/C535316|C16.131.939.316.064.249/C535316|C16.131.939.316.309.193/C535316|C19.391.119.064.249/C535316|C19.391.119.309.193/C535316 C04.182.201|C04.557.465.910.250|C12.050.351.875.253.064.249|C12.050.351.875.253.309.193|C12.200.706.316.064.249|C12.200.706.316.309.193|C12.800.316.064.249|C12.800.316.309.193|C16.131.939.316.064.249|C16.131.939.316.309.193|C19.391.119.064.249|C19.391.119.309.193 Cancer|Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal MESH:C567597 MESH:D023961 C12.050.351.875.253.064.249/C567597|C12.050.351.875.253.309.193/C567597|C12.200.706.316.064.249/C567597|C12.200.706.316.309.193/C567597|C12.800.316.064.249/C567597|C12.800.316.309.193/C567597|C16.131.939.316.064.249/C567597|C16.131.939.316.309.193/C567597|C19.391.119.064.249/C567597|C19.391.119.309.193/C567597 C12.050.351.875.253.064.249|C12.050.351.875.253.309.193|C12.200.706.316.064.249|C12.200.706.316.309.193|C12.800.316.064.249|C12.800.316.309.193|C16.131.939.316.064.249|C16.131.939.316.309.193|C19.391.119.064.249|C19.391.119.309.193 Xx Male Syndrome, Sry-Negative Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,XX SEX REVERSAL 1 OMIM:400045 DO:DOID:0111761 MESH:D023961 C12.050.351.875.253.064.249/400045|C12.050.351.875.253.309.193/400045|C12.200.706.316.064.249/400045|C12.200.706.316.309.193/400045|C12.800.316.064.249/400045|C12.800.316.309.193/400045|C16.131.939.316.064.249/400045|C16.131.939.316.309.193/400045|C19.391.119.064.249/400045|C19.391.119.309.193/400045 C12.050.351.875.253.064.249|C12.050.351.875.253.309.193|C12.200.706.316.064.249|C12.200.706.316.309.193|C12.800.316.064.249|C12.800.316.309.193|C16.131.939.316.064.249|C16.131.939.316.309.193|C19.391.119.064.249|C19.391.119.309.193 46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE 46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE, INCLUDED|46,XX SEX REVERSAL, SRY-POSITIVE|46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT|OVOTESTICULAR DISORDER OF SEX DEVELOPMENT, INCLUDED|OVOTESTICULAR DSD, INCLUDED|SRXX1|XX MALE, SRY-POSITIVE Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,XX SEX REVERSAL 2 OMIM:278850 DO:DOID:0111763 MESH:D023961 C12.050.351.875.253.064.249/278850|C12.050.351.875.253.309.193/278850|C12.200.706.316.064.249/278850|C12.200.706.316.309.193/278850|C12.800.316.064.249/278850|C12.800.316.309.193/278850|C16.131.939.316.064.249/278850|C16.131.939.316.309.193/278850|C19.391.119.064.249/278850|C19.391.119.309.193/278850 C12.050.351.875.253.064.249|C12.050.351.875.253.309.193|C12.200.706.316.064.249|C12.200.706.316.309.193|C12.800.316.064.249|C12.800.316.309.193|C16.131.939.316.064.249|C16.131.939.316.309.193|C19.391.119.064.249|C19.391.119.309.193 CHROMOSOME 17q24 DUPLICATION SYNDROME|SRXX2 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,XX SEX REVERSAL 3 OMIM:300833 DO:DOID:0111762 MESH:D023961 C12.050.351.875.253.064.249/300833|C12.050.351.875.253.309.193/300833|C12.200.706.316.064.249/300833|C12.200.706.316.309.193/300833|C12.800.316.064.249/300833|C12.800.316.309.193/300833|C16.131.939.316.064.249/300833|C16.131.939.316.309.193/300833|C19.391.119.064.249/300833|C19.391.119.309.193/300833 C12.050.351.875.253.064.249|C12.050.351.875.253.309.193|C12.200.706.316.064.249|C12.200.706.316.309.193|C12.800.316.064.249|C12.800.316.309.193|C16.131.939.316.064.249|C16.131.939.316.309.193|C19.391.119.064.249|C19.391.119.309.193 46,XX SEX REVERSAL, SOX3-RELATED CHROMOSOME Xq26 DELETION SYNDROME, INCLUDED|CHROMOSOME Xq26 DUPLICATION SYNDROME|SRXX3 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS OMIM:611812 MESH:D000307|MESH:D007674|MESH:D008171|MESH:D058489 C08.381/611812|C12.050.351.875.253.064/611812|C12.050.351.968.419/611812|C12.200.706.316.064/611812|C12.200.777.419/611812|C12.800.316.064/611812|C12.950.419/611812|C16.131.939.316.064/611812|C19.053/611812|C19.391.119.064/611812 C08.381|C12.050.351.875.253.064|C12.050.351.968.419|C12.200.706.316.064|C12.200.777.419|C12.800.316.064|C12.950.419|C16.131.939.316.064|C19.053|C19.391.119.064 SERKAL|SERKAL SYNDROME Congenital abnormality|Endocrine system disease|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) 46, XX Testicular Disorders of Sex Development MESH:D058531 DO:DOID:0111760 Congenital conditions in individuals in which male GONADS develop in a genetic female (female to male sex reversal). MESH:D058489 C12.050.351.875.253.064.124|C12.200.706.316.064.124|C12.800.316.064.124|C16.131.939.316.064.124|C19.391.119.064.124 C12.050.351.875.253.064|C12.200.706.316.064|C12.800.316.064|C16.131.939.316.064|C19.391.119.064 46, XX Gonadal Sex Reversal|46, XX Testicular Disorder of Sex Development|46, XX Testicular DSD|Gonadal Sex Reversal, 46, XX|Reversals, XX Sex|Reversal, XX Sex|Sex Reversal, Gonadal, 46, XX|Sex Reversals, XX|Sex Reversal, XX|Syndromes, XX Male|Syndrome, XX Male|XX Male Syndrome|XX Male Syndromes|XX Sex Reversal|XX Sex Reversals Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46, XY female MESH:C536769 MESH:D006061 C12.050.351.875.253.096.687/C536769|C12.050.351.875.253.309.388/C536769|C12.200.706.316.096.687/C536769|C12.200.706.316.309.388/C536769|C12.800.316.096.687/C536769|C12.800.316.309.388/C536769|C16.131.939.316.096.687/C536769|C16.131.939.316.309.388/C536769|C19.391.119.096.687/C536769|C19.391.119.309.388/C536769 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 XY Female Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related MESH:C565537 OMIM:233420 MESH:D006061 C12.050.351.875.253.096.687/C565537|C12.050.351.875.253.309.388/C565537|C12.200.706.316.096.687/C565537|C12.200.706.316.309.388/C565537|C12.800.316.096.687/C565537|C12.800.316.309.388/C565537|C16.131.939.316.096.687/C565537|C16.131.939.316.309.388/C565537|C19.391.119.096.687/C565537|C19.391.119.309.388/C565537 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, DHH-RELATED|46,XY SEX REVERSAL 7|46,XY SEX REVERSAL, PARTIAL OR COMPLETE, DHH-RELATED|GDXYM|Gonadal Dysgenesis, XY, Male Limited|GONADAL DYSGENESIS, XY, MALE-LIMITED|SRXY7 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,Xy Gonadal Dysgenesis, Complete, Sry-Related MESH:C567574 MESH:D006061 C12.050.351.875.253.096.687/C567574|C12.050.351.875.253.309.388/C567574|C12.200.706.316.096.687/C567574|C12.200.706.316.309.388/C567574|C12.800.316.096.687/C567574|C12.800.316.309.388/C567574|C16.131.939.316.096.687/C567574|C16.131.939.316.309.388/C567574|C19.391.119.096.687/C567574|C19.391.119.309.388/C567574 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 Gonadal Dysgenesis, Xy Female Type Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy MESH:C567773 OMIM:607080 MESH:D006061|MESH:D011115 C10.668.829.800/C567773|C12.050.351.875.253.096.687/C567773|C12.050.351.875.253.309.388/C567773|C12.200.706.316.096.687/C567773|C12.200.706.316.309.388/C567773|C12.800.316.096.687/C567773|C12.800.316.309.388/C567773|C16.131.939.316.096.687/C567773|C16.131.939.316.309.388/C567773|C19.391.119.096.687/C567773|C19.391.119.309.388/C567773 C10.668.829.800|C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY|GDMN Congenital abnormality|Endocrine system disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) 46,XY SEX REVERSAL 1 OMIM:400044 DO:DOID:0111778 MESH:D006061|MESH:D050090 C12.050.351.875.253.096.687/400044|C12.050.351.875.253.309.388/400044|C12.050.351.875.253.343/400044|C12.200.706.316.096.687/400044|C12.200.706.316.309.388/400044|C12.200.706.316.343/400044|C12.800.316.096.687/400044|C12.800.316.309.388/400044|C12.800.316.343/400044|C16.131.939.316.096.687/400044|C16.131.939.316.309.388/400044|C16.131.939.316.343/400044|C19.391.119.096.687/400044|C19.391.119.309.388/400044|C19.391.119.343/400044 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.050.351.875.253.343|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.200.706.316.343|C12.800.316.096.687|C12.800.316.309.388|C12.800.316.343|C16.131.939.316.096.687|C16.131.939.316.309.388|C16.131.939.316.343|C19.391.119.096.687|C19.391.119.309.388|C19.391.119.343 46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED 46,XY TRUE HERMAPHRODITISM, SRY-RELATED, INCLUDED|46,XY SEX REVERSAL, SRY-RELATED|SEX-REVERSING LOCUS ON X, FORMERLY, INCLUDED;SRVX, FORMERLY, INCLUDED|SRXY1|TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, FORMERLY, INCLUDED;TDFX, FORMERLY, INCLUDED Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,XY SEX REVERSAL 10 OMIM:616425 DO:DOID:0111775 MESH:D006061 C12.050.351.875.253.096.687/616425|C12.050.351.875.253.309.388/616425|C12.200.706.316.096.687/616425|C12.200.706.316.309.388/616425|C12.800.316.096.687/616425|C12.800.316.309.388/616425|C16.131.939.316.096.687/616425|C16.131.939.316.309.388/616425|C19.391.119.096.687/616425|C19.391.119.309.388/616425 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 CHROMOSOME 17q24 DELETION SYNDROME|SRXY10 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,XY Sex Reversal 4 MESH:C567887 DO:DOID:0111771|OMIM:154230 MESH:D006061 C12.050.351.875.253.096.687/C567887|C12.050.351.875.253.309.388/C567887|C12.200.706.316.096.687/C567887|C12.200.706.316.309.388/C567887|C12.800.316.096.687/C567887|C12.800.316.309.388/C567887|C16.131.939.316.096.687/C567887|C16.131.939.316.309.388/C567887|C19.391.119.096.687/C567887|C19.391.119.309.388/C567887 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 46,Xy Gonadal Dysgenesis, Complete Or Partial, With 9p24.3 Deletion|46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION|Chromosome 9p24.3 Deletion Syndrome|SRXY4 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46, XY Sex Reversal 5 MESH:C567766 DO:DOID:0111776|OMIM:613080 MESH:D006061 C12.050.351.875.253.096.687/C567766|C12.050.351.875.253.309.388/C567766|C12.200.706.316.096.687/C567766|C12.200.706.316.309.388/C567766|C12.800.316.096.687/C567766|C12.800.316.309.388/C567766|C16.131.939.316.096.687/C567766|C16.131.939.316.309.388/C567766|C19.391.119.096.687/C567766|C19.391.119.309.388/C567766 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 46,Xy Gonadal Dysgenesis, Complete, Cbx2-Related|46,XY SEX REVERSAL 5|46,XY SEX REVERSAL, CBX2-RELATED|Disorder Of Sex Development, 46,Xy, Cbx2-Related|Sex Reversal, Xy, Cbx2-Related|SRXY5 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,XY SEX REVERSAL 6 OMIM:613762 DO:DOID:0111769 MESH:D006061 C12.050.351.875.253.096.687/613762|C12.050.351.875.253.309.388/613762|C12.200.706.316.096.687/613762|C12.200.706.316.309.388/613762|C12.800.316.096.687/613762|C12.800.316.309.388/613762|C16.131.939.316.096.687/613762|C16.131.939.316.309.388/613762|C19.391.119.096.687/613762|C19.391.119.309.388/613762 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED|46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED|SRXY6 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,XY SEX REVERSAL 9 OMIM:616067 DO:DOID:0111770 MESH:D006061 C12.050.351.875.253.096.687/616067|C12.050.351.875.253.309.388/616067|C12.200.706.316.096.687/616067|C12.200.706.316.309.388/616067|C12.800.316.096.687/616067|C12.800.316.309.388/616067|C16.131.939.316.096.687/616067|C16.131.939.316.309.388/616067|C19.391.119.096.687/616067|C19.391.119.309.388/616067 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 46,XY SEX REVERSAL, ZFPM2-RELATED|SRXY9 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 46,Xy True Hermaphroditism, Sry-Related MESH:C567575 MESH:D050090|MESH:D058490 C12.050.351.875.253.096/C567575|C12.050.351.875.253.343/C567575|C12.200.706.316.096/C567575|C12.200.706.316.343/C567575|C12.800.316.096/C567575|C12.800.316.343/C567575|C16.131.939.316.096/C567575|C16.131.939.316.343/C567575|C19.391.119.096/C567575|C19.391.119.343/C567575 C12.050.351.875.253.096|C12.050.351.875.253.343|C12.200.706.316.096|C12.200.706.316.343|C12.800.316.096|C12.800.316.343|C16.131.939.316.096|C16.131.939.316.343|C19.391.119.096|C19.391.119.343 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) 47, XYY syndrome MESH:C535317 MESH:D014997|MESH:D025064 C16.131.260.830/C535317|C16.320.180.830/C535317|C23.550.210.024.500/C535317|C23.550.210.815.970/C535317 C16.131.260.830|C16.320.180.830|C23.550.210.024.500|C23.550.210.815.970 47 XYY syndrome|Jacob's syndrome|XYY syndrome|YY syndrome Congenital abnormality|Genetic disease (inborn)|Pathology (process) 49,XXXXX syndrome MESH:C535319 MESH:D000782|MESH:D012729|MESH:D025064 C16.131.260.830/C535319|C16.320.180.830/C535319|C23.550.210.050/C535319|C23.550.210.815/C535319 C16.131.260.830|C16.320.180.830|C23.550.210.050|C23.550.210.815 Chromosome X pentasomy|Chromosome XXXXX syndrome|Pentasomy X|Pentasomy X syndrome|Penta-X syndrome Congenital abnormality|Genetic disease (inborn)|Pathology (process) 4-hydroxyphenylacetic aciduria MESH:C535315 MESH:D007410 C06.405.469/C535315 C06.405.469 Digestive system disease 5 alpha Fluorouracil toxicity MESH:C531667 MESH:D054067 C16.320.565.798.183/C531667|C18.452.648.798.183/C531667 C16.320.565.798.183|C18.452.648.798.183 Genetic disease (inborn)|Metabolic disease 5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR OMIM:143460 MESH:D004314 C10.597.606.360.220/143460|C16.131.077.327/143460|C16.131.260.260/143460|C16.320.180.260/143460 C10.597.606.360.220|C16.131.077.327|C16.131.260.260|C16.320.180.260 HTOR Congenital abnormality|Genetic disease (inborn)|Nervous system disease 5-Nucleotidase syndrome MESH:C535321 MESH:D008661 C16.320.565/C535321|C18.452.648/C535321 C16.320.565|C18.452.648 5'-Nucleotidase syndrome Genetic disease (inborn)|Metabolic disease 5-oxoprolinase deficiency MESH:C535322 OMIM:260005 MESH:D000592 C16.320.565.100/C535322|C18.452.648.100/C535322 C16.320.565.100|C18.452.648.100 5-alpha-oxoprolinase deficiency|OPLAHD|Oxoprolinuria due to 5-oxoprolinase deficiency|Oxoprolinuria Due To Oxoprolinase Deficiency Genetic disease (inborn)|Metabolic disease 6-Phosphogluconolactonase Deficiency MESH:C566803 MESH:D000743|MESH:D008661 C15.378.071.141/C566803|C16.320.565/C566803|C18.452.648/C566803 C15.378.071.141|C16.320.565|C18.452.648 6PGL Deficiency Blood disease|Genetic disease (inborn)|Metabolic disease 6-pyruvoyl-tetrahydropterin synthase deficiency MESH:C535325 DO:DOID:0090106|OMIM:261640 MESH:D010661 C10.228.140.163.100.687/C535325|C16.320.565.100.766/C535325|C16.320.565.189.687/C535325|C18.452.132.100.687/C535325|C18.452.648.100.766/C535325|C18.452.648.189.687/C535325 C10.228.140.163.100.687|C16.320.565.100.766|C16.320.565.189.687|C18.452.132.100.687|C18.452.648.100.766|C18.452.648.189.687 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY|HPABH4A|HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A|Hyperphenylalaninemia, BH4-Deficient, Type A|Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To PTS Deficiency|PTPSD|PTPS deficiency|PTSD|PTS Deficiency|PTS DEFICIENCY HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY, INCLUDED Genetic disease (inborn)|Metabolic disease|Nervous system disease 6q24-Related Transient Neonatal Diabetes Mellitus MESH:C579872 MESH:D003920 C18.452.394.750/C579872|C19.246/C579872 C18.452.394.750|C19.246 6q24-Tndm|Tndm Type 1|transient neonatal diabetes mellitus type 1 Endocrine system disease|Metabolic disease 6q+ Syndrome, Partial MESH:C537810 MESH:D014314|MESH:D025063 C16.131.260/C537810|C16.320.180/C537810|C23.550.210.050.750/C537810|C23.550.210.182.500/C537810 C16.131.260|C16.320.180|C23.550.210.050.750|C23.550.210.182.500 Chromosome 6, partial trisomy 6q|Chromosome 6, Trisomy 6q2|Distal Duplication 6q|Trisomy 6q, Partial|Trisomy 6q Syndrome, Partial Congenital abnormality|Genetic disease (inborn)|Pathology (process) 7p2 monosomy syndrome MESH:C537818 MESH:D002872|MESH:D025063 C16.131.260/C537818|C16.320.180/C537818|C23.550.210.050.500.500/C537818 C16.131.260|C16.320.180|C23.550.210.050.500.500 Chromosome 7, monosomy 7p2|Chromosome 7, partial deletion of short arm (7p2-)|Chromosome 7, partial monosomy 7p|Chromosome 7, terminal 7p deletion (del 7p21-p22) Congenital abnormality|Genetic disease (inborn)|Pathology (process) 9q22.3 Microdeletion MESH:C579873 MESH:D025063 C16.131.260/C579873|C16.320.180/C579873 C16.131.260|C16.320.180 9q22.3 Deletion|9q22 Deletion Syndrome|Microdeletion 9q22.3 Syndrome Congenital abnormality|Genetic disease (inborn) AA amyloidosis MESH:C000718787 MESH:D000686 C18.452.845.500/C000718787 C18.452.845.500 Amyloid A amyloidosis Metabolic disease Aagenaes syndrome MESH:C535330 DO:DOID:6691|OMIM:214900 MESH:D002779|MESH:D008209 C06.130.120.135/C535330|C15.604.496/C535330 C06.130.120.135|C15.604.496 AAGENAES SYNDROME|CHLS|Cholestasis lymphedema syndrome|Cholestasis-Lymphedema Syndrome|LCS|LCS1|Lymphedema - cholestasis syndrome|Lymphedema-Cholestasis Syndrome Digestive system disease|Lymphatic disease Aarskog Syndrome MESH:C535331 DO:DOID:6683|OMIM:305400 MESH:D004392|MESH:D006228|MESH:D006330|MESH:D040181 C05.116.099.343/C535331|C05.390.408/C535331|C05.660.585.988.425/C535331|C14.240.400/C535331|C14.280.400/C535331|C16.131.240.400/C535331|C16.131.621.585.988.500/C535331|C16.320.240/C535331|C16.320.322/C535331|C19.297/C535331 C05.116.099.343|C05.390.408|C05.660.585.988.425|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.585.988.500|C16.320.240|C16.320.322|C19.297 Aarskog Disease|Aarskog-Like Syndrome|Aarskog-Scott Syndrome|AARSKOG SYNDROME, X-LINKED FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER, INCLUDED|AAS|Facio-Digito-Genital Dysplasia|Faciodigitogenital Syndrome|Faciodigitogenital Syndrome, Recessive|Faciogenital Dysplasia|FGDY|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16, INCLUDED|Kuwait Type Faciodigitogenital Syndrome|MENTAL RETARDATION, X-LINKED, SYNDROMIC 16, INCLUDED|MRXS16, INCLUDED|Scott Aarskog Syndrome Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease AARSKOG SYNDROME, AUTOSOMAL DOMINANT OMIM:100050 DO:DOID:0111825 MESH:C535331 C05.116.099.343/C535331/100050|C05.390.408/C535331/100050|C05.660.585.988.425/C535331/100050|C14.240.400/C535331/100050|C14.280.400/C535331/100050|C16.131.240.400/C535331/100050|C16.131.621.585.988.500/C535331/100050|C16.320.240/C535331/100050|C16.320.322/C535331/100050|C19.297/C535331/100050 C05.116.099.343/C535331|C05.390.408/C535331|C05.660.585.988.425/C535331|C14.240.400/C535331|C14.280.400/C535331|C16.131.240.400/C535331|C16.131.621.585.988.500/C535331|C16.320.240/C535331|C16.320.322/C535331|C19.297/C535331 Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Aase Smith syndrome MESH:C535332 MESH:D000015|MESH:D002972|MESH:D003286|MESH:D006849|MESH:D017880 C05.500.460.185/C535332|C05.550.323/C535332|C05.651.197/C535332|C05.660.207.540.460.185/C535332|C05.660.585/C535332|C07.320.440.185/C535332|C07.465.525.185/C535332|C07.650.500.460.185/C535332|C07.650.525.185/C535332|C10.228.140.602/C535332|C16.131.077/C535332|C16.131.621.207.540.460.185/C535332|C16.131.621.585/C535332|C16.131.850.500.460.185/C535332|C16.131.850.525.185/C535332 C05.500.460.185|C05.550.323|C05.651.197|C05.660.207.540.460.185|C05.660.585|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.228.140.602|C16.131.077|C16.131.621.207.540.460.185|C16.131.621.585|C16.131.850.500.460.185|C16.131.850.525.185 Aase-Smith Syndrome I|Hydrocephalus cleft palate joint contractures|Joint contractures with other abnormalities Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease Aase Smith syndrome 2 MESH:C538442 DO:DOID:0111879 MESH:D029503 C15.378.071.085.080.090/C538442|C15.378.071.750.500/C538442|C15.378.190.223.500.500.090/C538442|C16.320.077.090/C538442 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 Aase-Smith Syndrome II|Aase syndrome|Anemia and triphalangeal thumbs|Anemia congenital erythroid hypoplastic|Anemia, Congenital Erythroid Hypoplastic|Aregenerative anemia, chronic congenital|Congenital anemia and triphalangeal thumbs|Diamond-Blackfan Anemia 6|Hypoplastic anemia-triphalangeal thumbs, Aase-Smith type Blood disease|Genetic disease (inborn) abc disease MESH:C579754 MESH:D009369 C04/C579754 C04 Cancer ABCD syndrome MESH:C535334 DO:DOID:0050600|OMIM:600501 MESH:D014849 C16.131.077.938/C535334 C16.131.077.938 ABCDS|Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness Congenital abnormality Abderhalden-Kaufmann-Lignac syndrome MESH:C535335 MESH:D003554 C16.320.565.595.377/C535335|C18.452.648.595.377/C535335 C16.320.565.595.377|C18.452.648.595.377 Abderhalden Kaufmann Lignac syndrome|Abderhalden-Lignac-Kaufmann disease Genetic disease (inborn)|Metabolic disease Abdomen, Acute MESH:D000006 A clinical syndrome with acute abdominal pain that is severe, localized, and rapid in onset. Acute abdomen may be caused by a variety of disorders, injuries, or diseases. MESH:D015746 C23.888.592.612.054.200|C23.888.821.030.249 C23.888.592.612.054|C23.888.821.030 Abdomens, Acute|Acute Abdomen|Acute Abdomens Signs and symptoms Abdominal Abscess MESH:D018784 An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed) MESH:D000038 C01.830.025.020 C01.830.025 Abdominal Abscesses|Abscess, Abdominal|Abscesses, Abdominal|Abscesses, Intra-Abdominal|Abscess, Intra Abdominal|Abscess, Intra-Abdominal|Intra-Abdominal Abscess|Intra-Abdominal Abscesses Abdominal chemodectomas with cutaneous angiolipomas MESH:C535552 MESH:D010236|MESH:D012878 C04.557.465.625.650.700.705/C535552|C04.557.580.625.650.700.705/C535552|C04.588.805/C535552|C17.800.882/C535552 C04.557.465.625.650.700.705|C04.557.580.625.650.700.705|C04.588.805|C17.800.882 Chemodectoma, Intraabdominal, with Cutaneous Angiolipomas|Familial abdominal chemodectomas with cutaneous angiolipomas Cancer|Skin disease Abdominal cystic lymphangioma MESH:C535553 MESH:D012186|MESH:D018191 C04.557.375.450.450/C535553|C04.588.033.731/C535553 C04.557.375.450.450|C04.588.033.731 Abdominal retroperitoneal lymphangioma|Retroperitoneal cystic lymphangioma Cancer Abdominal Injuries MESH:D000007 General or unspecified injuries involving organs in the abdominal cavity. MESH:D014947 C26.017 C26 Abdominal Injury|Injuries, Abdominal|Injury, Abdominal Wounds and injuries Abdominal Neoplasms MESH:D000008 New abnormal growth of tissue in the ABDOMEN. MESH:D009371 C04.588.033 C04.588 Abdominal Neoplasm|Neoplasm, Abdominal|Neoplasms, Abdominal Cancer Abdominal obesity metabolic syndrome MESH:C535554 DO:DOID:0060611 MESH:D024821 C18.452.394.968.500.570/C535554|C18.452.625/C535554 C18.452.394.968.500.570|C18.452.625 Abdominal Obesity-Metabolic Syndrome Metabolic disease ABDOMINAL OBESITY-METABOLIC SYNDROME 1 OMIM:605552 DO:DOID:14221 MESH:C535554|MESH:D056128 C18.452.394.968.500.570/C535554/605552|C18.452.625/C535554/605552|C18.654.726.750.500.615/605552|C23.888.144.699.500.063/605552 C18.452.394.968.500.570/C535554|C18.452.625/C535554|C18.654.726.750.500.615|C23.888.144.699.500.063 AOMS1|METABOLIC SYNDROME, PROTECTION AGAINST, INCLUDED|METABOLIC SYNDROME X ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 1, INCLUDED Metabolic disease|Nutrition disorder|Signs and symptoms ABDOMINAL OBESITY-METABOLIC SYNDROME 3 OMIM:615812 DO:DOID:0060612 MESH:C535554|MESH:D056128 C18.452.394.968.500.570/C535554/615812|C18.452.625/C535554/615812|C18.654.726.750.500.615/615812|C23.888.144.699.500.063/615812 C18.452.394.968.500.570/C535554|C18.452.625/C535554|C18.654.726.750.500.615|C23.888.144.699.500.063 AOMS3|CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE Metabolic disease|Nutrition disorder|Signs and symptoms Abdominal Pain MESH:D015746 Sensation of discomfort, distress, or agony in the abdominal region. MESH:D010146|MESH:D012817 C23.888.592.612.054|C23.888.821.030 C23.888.592.612|C23.888.821 Abdominal Pains|Colicky Pain|Colicky Pains|Pain, Abdominal|Pain, Colicky|Pains, Abdominal|Pains, Colicky Signs and symptoms Abducens Nerve Diseases MESH:D020434 DO:DOID:10865 Diseases of the sixth cranial (abducens) nerve or its nucleus in the pons. The nerve may be injured along its course in the pons, intracranially as it travels along the base of the brain, in the cavernous sinus, or at the level of superior orbital fissure or orbit. Dysfunction of the nerve causes lateral rectus muscle weakness, resulting in horizontal diplopia that is maximal when the affected eye is abducted and ESOTROPIA. Common conditions associated with nerve injury include INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; ISCHEMIA; and INFRATENTORIAL NEOPLASMS. MESH:D003389 C10.292.150 C10.292 6th Nerve Palsies|6th Nerve Palsy|Abducens Nerve Disease|Abducens Nerve Palsies|Abducens Nerve Palsy|Abducens Palsies|Abducens Palsy|Abducens Palsy, Childhood, Benign Recurrent|Benign Recurrent Abducens Palsy, Children|Benign Recurrent Abducens Palsy of Childhood|Cranial Nerve VI Diseases|Cranial Nerve VI Palsy|Lateral Rectus Palsies|Lateral Rectus Palsy|Palsies, 6th Nerve|Palsies, Abducens|Palsies, Abducens Nerve|Palsies, Lateral Rectus|Palsies, Sixth Nerve|Palsies, VI Nerve|Palsy, 6th Nerve|Palsy, Abducens|Palsy, Abducens Nerve|Palsy, Lateral Rectus|Palsy, Sixth Nerve|Palsy, VI Nerve|Sixth Cranial Nerve Diseases|Sixth Cranial Nerve Disorders|Sixth Cranial Nerve Palsy|Sixth Nerve Palsies|Sixth Nerve Palsy|VI Nerve Palsy|VIth Cranial Nerve Diseases Nervous system disease Abducens Nerve Injury MESH:D020222 Traumatic injury to the abducens, or sixth, cranial nerve. Injury to this nerve results in lateral rectus muscle weakness or paralysis. The nerve may be damaged by closed or penetrating CRANIOCEREBRAL TRAUMA or by facial trauma involving the orbit. MESH:D020209|MESH:D020434 C10.292.150.100|C10.292.200.200|C10.900.300.218.150|C26.915.300.400.100 C10.292.150|C10.292.200|C10.900.300.218|C26.915.300.400 Abducens Nerve Injuries|Abducens Nerve Trauma|Abducens Nerve Traumas|Abducens Neuropathies, Traumatic|Abducens Neuropathy, Traumatic|Cranial Nerve VI Injury|Injuries, Abducens Nerve|Injury, Abducens Nerve|Injury, Cranial Nerve VI|Injury, Sixth Cranial Nerve|Nerve Injuries, Abducens|Nerve Injury, Abducens|Nerve Trauma, Abducens|Nerve Traumas, Abducens|Sixth Cranial Nerve Injuries|Sixth Cranial Nerve Injury|Sixth-Nerve Palsies, Traumatic|Sixth Nerve Palsy, Traumatic|Sixth-Nerve Palsy, Traumatic|Sixth Nerve Trauma|Sixth-Nerve Trauma|Sixth-Nerve Traumas|Trauma, Abducens Nerve|Traumas, Abducens Nerve|Trauma, Sixth-Nerve|Traumas, Sixth-Nerve|Traumatic Abducens Neuropathies|Traumatic Abducens Neuropathy|Traumatic Sixth-Nerve Palsies|Traumatic Sixth Nerve Palsy|Traumatic Sixth-Nerve Palsy Nervous system disease|Wounds and injuries Aberrant Crypt Foci MESH:D058739 Clusters of colonic crypts that appear different from the surrounding mucosa when visualized after staining. They are of interest as putative precursors to colorectal adenomas and potential biomarkers for colorectal carcinoma. MESH:D011230 C04.834.020 C04.834 Crypt Foci, Aberrant|Foci, Aberrant Crypt Cancer Aberrant subclavian artery MESH:C535555 MESH:D018376 C14.240/C535555|C16.131.240/C535555 C14.240|C16.131.240 Aberrant left subclavian artery|Aberrant right subclavian artery Cardiovascular disease|Congenital abnormality Abetalipoproteinemia MESH:D000012 DO:DOID:1386|OMIM:200100 An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. MESH:D006995 C16.320.565.398.500.440.500|C18.452.584.500.875.440.500|C18.452.584.563.500.440.500|C18.452.648.398.500.440.500 C16.320.565.398.500.440|C18.452.584.500.875.440|C18.452.584.563.500.440|C18.452.648.398.500.440 ABL|Acanthocytoses|Acanthocytosis|Bassen Kornzweig Disease|Bassen-Kornzweig Disease|Bassen Kornzweig Syndrome|Bassen-Kornzweig Syndrome|Betalipoprotein Deficiency Disease|Betalipoprotein Deficiency Diseases|Deficiency Disease, Betalipoprotein|Deficiency Diseases, Betalipoprotein|Disease, Betalipoprotein Deficiency|Diseases, Betalipoprotein Deficiency|Microsomal Triglyceride Transfer Protein Deficiency|Microsomal Triglyceride Transfer Protein Deficiency Disease|MTP DEFICIENCY Genetic disease (inborn)|Metabolic disease Abetalipoproteinemia neuropathy MESH:C540309 MESH:D000012|MESH:D001259 C10.597.350.090/C540309|C16.320.565.398.500.440.500/C540309|C18.452.584.500.875.440.500/C540309|C18.452.584.563.500.440.500/C540309|C18.452.648.398.500.440.500/C540309|C23.888.592.350.090/C540309 C10.597.350.090|C16.320.565.398.500.440.500|C18.452.584.500.875.440.500|C18.452.584.563.500.440.500|C18.452.648.398.500.440.500|C23.888.592.350.090 Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Abidi X-linked mental retardation syndrome MESH:C535556 DO:DOID:0060818|OMIM:300262 MESH:D019465|MESH:D034381|MESH:D038901 C05.660.207/C535556|C09.218.458.341/C535556|C10.597.606.360.455/C535556|C10.597.751.418.341/C535556|C16.131.621.207/C535556|C16.320.322.500/C535556|C16.320.400.525/C535556|C23.888.592.763.393.341/C535556 C05.660.207|C09.218.458.341|C10.597.606.360.455|C10.597.751.418.341|C16.131.621.207|C16.320.322.500|C16.320.400.525|C23.888.592.763.393.341 ABIDI X-LINKED MENTAL RETARDATION SYNDROME|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ABIDI TYPE|Mental retardation X-linked, Abidi type|Mental Retardation, X-Linked, Abidi Type|MENTAL RETARDATION, X-LINKED, SYNDROMIC, ABIDI TYPE|MRXSAB|Short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Ablepharon macrostomia syndrome MESH:C535557 DO:DOID:0060550|OMIM:200110 MESH:D000015|MESH:D005124|MESH:D008265 C07.465.525.480/C535557|C07.650.525.480/C535557|C11.250/C535557|C16.131.077/C535557|C16.131.384/C535557|C16.131.850.525.480/C535557 C07.465.525.480|C07.650.525.480|C11.250|C16.131.077|C16.131.384|C16.131.850.525.480 Ablepharon-Macrostomia Syndrome|AMS Congenital abnormality|Eye disease|Mouth disease Abnormal fusion of dental cementum with alveolar bone MESH:C536375 MESH:D020254 C07.793.710/C536375 C07.793.710 Molar I reinclusion|Secondary retention of permanent molars Mouth disease Abnormalities, Drug-Induced MESH:D000014 Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment. MESH:D000013 C16.131.042 C16.131 Abnormalities, Drug Induced|Abnormality, Drug-Induced|Drug Induced Abnormalities|Drug-Induced Abnormalities|Drug-Induced Abnormality Congenital abnormality Abnormalities, Multiple MESH:D000015 Congenital abnormalities that affect more than one organ or body structure. MESH:D000013 C16.131.077 C16.131 Multiple Abnormalities Congenital abnormality Abnormalities, Radiation-Induced MESH:D000016 Congenital changes in the morphology of organs produced by exposure to ionizing or non-ionizing radiation. MESH:D000013|MESH:D011832 C16.131.080|C26.733.031 C16.131|C26.733 Abnormalities, Radiation Induced|Abnormality, Radiation-Induced|Radiation Induced Abnormalities|Radiation-Induced Abnormalities|Radiation-Induced Abnormality Congenital abnormality|Wounds and injuries Abnormalities, Severe Teratoid MESH:D009008 Marked developmental anomalies of a fetus or infant. MESH:D000013 C16.131.085 C16.131 Abnormality, Severe Teratoid|Severe Teratoid Abnormalities|Severe Teratoid Abnormality|Teratoid Abnormalities, Severe|Teratoid Abnormality, Severe Congenital abnormality Abnormal Karyotype MESH:D059786 A variation from the normal set of chromosomes characteristic of a species. MESH:D002869 C23.550.210.024 C23.550.210 Abnormal Karyotypes|Karyotype, Abnormal|Karyotypes, Abnormal Pathology (process) Abortion, Habitual MESH:D000026 Three or more consecutive spontaneous abortions. MESH:D000022 C12.050.703.039.089 C12.050.703.039 Abortion, Recurrent|Habitual Abortion|Habitual Abortions|Miscarriage, Recurrent|Recurrent Abortion|Recurrent Abortions|Recurrent Early Pregnancy Loss|Recurrent Miscarriage|Recurrent Miscarriages Pregnancy complication Abortion, Incomplete MESH:D000027 Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled. MESH:D000022 C12.050.703.039.093 C12.050.703.039 Abortions, Incomplete|Incomplete Abortion|Incomplete Abortions Pregnancy complication Abortion, Missed MESH:D000030 The retention in the UTERUS of a dead FETUS two months or more after its DEATH. MESH:D000022 C12.050.703.039.173 C12.050.703.039 Abortions, Missed|Missed Abortion|Missed Abortions Pregnancy complication Abortion, Septic MESH:D000031 Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge. MESH:D000022|MESH:D011251 C01.674.173|C12.050.703.039.256|C12.050.703.700.173 C01.674|C12.050.703.039|C12.050.703.700 Abortions, Septic|Septic Abortion|Septic Abortions Pregnancy complication Abortion, Spontaneous MESH:D000022 Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference. MESH:D011248 C12.050.703.039 C12.050.703 Abortions, Spontaneous|Abortions, Tubal|Abortion, Tubal|Early Pregnancy Loss|Early Pregnancy Losses|Loss, Early Pregnancy|Losses, Early Pregnancy|Miscarriage|Miscarriages|Pregnancy Loss, Early|Pregnancy Losses, Early|Spontaneous Abortion|Spontaneous Abortions|Tubal Abortion|Tubal Abortions Pregnancy complication Abortion, Threatened MESH:D000033 DO:DOID:9667 UTERINE BLEEDING from a GESTATION of less than 20 weeks without any CERVICAL DILATATION. It is characterized by vaginal bleeding, lower back discomfort, or midline pelvic cramping and a risk factor for MISCARRIAGE. MESH:D011248 C12.050.703.090 C12.050.703 Miscarriage, Threatened|Threatened Abortion|Threatened Abortions|Threatened Miscarriage|Threatened Miscarriages Pregnancy complication Abortion, Veterinary MESH:D000034 Premature expulsion of the FETUS in animals. MESH:D000022|MESH:D000820 C12.050.703.039.422|C22.021 C12.050.703.039|C22 Abortions, Veterinary|Veterinary Abortion|Veterinary Abortions Animal disease|Pregnancy complication Abrikosov's tumor MESH:C535558 MESH:D006106 C04.557.475.750.656/C535558|C04.588.322.455.398/C535558|C12.050.351.500.056.630.705.398/C535558|C12.050.351.937.418.685.398/C535558|C12.100.250.056.630.705.398/C535558|C12.900.418.685.398/C535558|C19.344.410.398/C535558|C19.391.630.705.398/C535558 C04.557.475.750.656|C04.588.322.455.398|C12.050.351.500.056.630.705.398|C12.050.351.937.418.685.398|C12.100.250.056.630.705.398|C12.900.418.685.398|C19.344.410.398|C19.391.630.705.398 Abrikosoff's granulous cell tumor|Abrikosoff's tumor|Giant granulo-cellular Abrikosov's tumor|Malignant variant of Abrikosov's tumor Cancer|Endocrine system disease|Urogenital disease (female) Abruptio Placentae MESH:D000037 Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH. MESH:D007744|MESH:D010922 C12.050.703.420.078|C12.050.703.590.132 C12.050.703.420|C12.050.703.590 Abruption, Placental|Abruptions, Placental|Placental Abruption|Placental Abruptions Pregnancy complication Abruzzo Erickson syndrome MESH:C535559 DO:DOID:0111826|OMIM:302905 MESH:D006314|MESH:D017880|MESH:D019767|MESH:D040181 C05.660.207.540/C535559|C05.660.585/C535559|C07.650.500/C535559|C09.218.458.341.562/C535559|C10.597.751.418.341.562/C535559|C16.131.621.207.540/C535559|C16.131.621.585/C535559|C16.131.850.500/C535559|C16.320.322/C535559|C23.888.592.763.393.341.562/C535559 C05.660.207.540|C05.660.585|C07.650.500|C09.218.458.341.562|C10.597.751.418.341.562|C16.131.621.207.540|C16.131.621.585|C16.131.850.500|C16.320.322|C23.888.592.763.393.341.562 ABERS|Abruzzo-Erickson Syndrome|Charge-Like Syndrome, X-Linked|CHARGE like syndrome, X linked Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Abscess MESH:D000038 Accumulation of purulent material in tissues, organs, or circumscribed spaces, usually associated with signs of infection. MESH:D013492 C01.830.025|C23.550.470.756.100 C01.830|C23.550.470.756 Abscesses Pathology (process) Absence of septum pellucidum MESH:C535562 MESH:D025962 C10.292.562.700.375.875/C535562|C10.500.034.937/C535562|C10.500.760.500/C535562|C11.590.436.400.875/C535562|C16.131.666.034.937/C535562|C16.131.666.763.500/C535562 C10.292.562.700.375.875|C10.500.034.937|C10.500.760.500|C11.590.436.400.875|C16.131.666.034.937|C16.131.666.763.500 Congenital abnormality|Eye disease|Nervous system disease Absence of Tibia MESH:C535563 OMIM:275220 MESH:D004480 C05.660.585.350/C535563|C16.131.621.585.350/C535563 C05.660.585.350|C16.131.621.585.350 Bilateral absence of the tibia|THM|Tibia, absence of|Tibial hemimelia Congenital abnormality|Musculoskeletal disease Absence of tibia with polydactyly MESH:C535564 DO:DOID:0111564|OMIM:188740 MESH:D017689 C05.660.585.600/C535564|C16.131.621.585.600/C535564 C05.660.585.600|C16.131.621.585.600 Polydactyly with absent tibia|THYP|Tibia, Absence of, with Polydactyly|TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY|TIBIAL HEMIMELIA-POLYDACTYLY-TRIPHALANGEAL THUMBS WITH FIBULAR DIMELIA Congenital abnormality|Musculoskeletal disease Absent corpus callosum cataract immunodeficiency MESH:C535566 DO:DOID:0060356|OMIM:242840 MESH:D002386|MESH:D061085 C10.500.034/C535566|C11.510.245/C535566|C16.131.666.034/C535566|C23.300.008/C535566 C10.500.034|C11.510.245|C16.131.666.034|C23.300.008 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM|VICIS|Vici syndrome Congenital abnormality|Eye disease|Nervous system disease|Pathology (anatomical condition) Absent duct of Santorini MESH:C535567 MESH:D004065 C06.198/C535567|C16.131.314/C535567 C06.198|C16.131.314 Absent accessory pancreatic duct of Santorini Congenital abnormality|Digestive system disease Absent Eyebrows and Eyelashes with Mental Retardation MESH:C563111 MESH:D005901|MESH:D008607|MESH:D008831|MESH:D011782 C05.660.207.620/C563111|C10.500.507.400.500/C563111|C10.597.606.360/C563111|C10.597.622.760/C563111|C11.525.381/C563111|C16.131.621.207.620/C563111|C16.131.666.507.400.500/C563111|C23.888.592.604.646/C563111|C23.888.592.636.786/C563111|F03.625.539/C563111 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C10.597.622.760|C11.525.381|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.604.646|C23.888.592.636.786|F03.625.539 Pseudoprogeria Syndrome Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Absent patella MESH:C535568 OMIM:168860 MESH:D009139 C05.660/C535568|C16.131.621/C535568 C05.660|C16.131.621 Familial absence of the patella|Familial aplasia of the patella|Patella aplasia-hypoplasia|PTLAH Congenital abnormality|Musculoskeletal disease Absent radii and thrombocytopenia MESH:C536940 DO:DOID:14699|OMIM:274000 MESH:D000080984|MESH:D013921|MESH:D038062 C05.660.585.988/C536940|C15.378.140.855/C536940|C15.378.190.223.500/C536940|C16.131.621.585.988/C536940|C16.614.183/C536940 C05.660.585.988|C15.378.140.855|C15.378.190.223.500|C16.131.621.585.988|C16.614.183 Chromosome 1q21.1 Deletion Syndrome, 200-Kb|Radial Aplasia-Amegakaryocytic Thrombocytopenia|Radial Aplasia-Thrombocytopenia Syndrome|TAR|TAR Syndrome|Thrombocytopenia Absent Radii|Thrombocytopenia absent radius syndrome|Thrombocytopenia-Absent Radius Syndrome Blood disease|Congenital abnormality|Infant-newborn disease|Musculoskeletal disease Absidia corymbifera infection MESH:C000656947 MESH:D009091 C01.150.703.980.600/C000656947 C01.150.703.980.600 Lichtheimia corymbifera infection|Mucor corymbifer infection|Mycocladus corymbifer infection Bacterial infection or mycosis Abuse dwarfism syndrome MESH:C535569 MESH:D002653|MESH:D002658|MESH:D004392 C05.116.099.343/C535569|C16.320.240/C535569|C19.297/C535569|F03.625.141/C535569|F03.625.421/C535569 C05.116.099.343|C16.320.240|C19.297|F03.625.141|F03.625.421 Child abuse dwarfism|Psychosocial dwarfism Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease Acalculous Cholecystitis MESH:D042101 DO:DOID:2828 Inflammation of the GALLBLADDER wall in the absence of GALLSTONES. MESH:D002764 C06.130.564.263.249 C06.130.564.263 Acalculous Gallbladder Inflammation|Cholecystitis, Acalculous|Gallbladder Inflammation, Acalculous Digestive system disease Acalvaria MESH:C535570 MESH:D009436 C10.500.680/C535570|C16.131.666.680/C535570 C10.500.680|C16.131.666.680 Congenital abnormality|Nervous system disease Acanthamoeba Keratitis MESH:D015823 Infection of the cornea by an ameboid protozoan which may cause corneal ulceration leading to blindness. MESH:D000562|MESH:D007634|MESH:D015822 C01.610.300.125|C01.610.752.049.203|C11.204.564.112|C11.294.725.125 C01.610.300|C01.610.752.049|C11.204.564|C11.294.725 Acanthamoeba Keratitides|Keratitides, Acanthamoeba|Keratitis, Acanthamoeba Eye disease|Parasitic disease Acanthocheilonemiasis MESH:D063485 A tropical infectious disease found mainly in Africa that is caused by the filarial parasite ACANTHOCHEILONEMA. Symptoms include skin rashes, abdominal, chest, muscle, and joint pains, neurologic disorders, skin lumps, and elevated levels of white blood cells. The parasite is transmitted through the bite of small flies. MESH:D005368 C01.610.335.508.700.750.361.137 C01.610.335.508.700.750.361 Acanthocheilonemiases Parasitic disease Acantholysis MESH:D000051 Separation of the prickle cells of the stratum spinosum of the epidermis, resulting in atrophy of the prickle cell layer. It is seen in diseases such as pemphigus vulgaris (see PEMPHIGUS) and DARIER DISEASE. MESH:D010335|MESH:D012872 C17.800.865.070|C23.550.035 C17.800.865|C23.550 Acantholyses Pathology (process)|Skin disease Acanthoma MESH:D049309 DO:DOID:172|DO:DOID:174|DO:DOID:4322 A neoplasm composed of squamous or epidermal cells. MESH:D012878|MESH:D018307 C04.557.470.700.040|C04.588.805.040 C04.557.470.700|C04.588.805 Acanthoma, Clear Cell|Acanthoma, Degos|Acanthoma, Pilar Sheath|Acanthomas|Acanthomas, Clear Cell|Acanthomas, Pilar Sheath|Clear Cell Acanthoma|Clear Cell Acanthomas|Degos Acanthoma|Pilar Sheath Acanthoma|Pilar Sheath Acanthomas Cancer Acanthosis Nigricans MESH:D000052 DO:DOID:3138 A circumscribed melanosis consisting of a brown-pigmented, velvety verrucosity or fine papillomatosis appearing in the axillae and other body folds. It occurs in association with endocrine disorders, underlying malignancy, administration of certain drugs, or as in inherited disorder. MESH:D008548 C17.800.621.430.530.100 C17.800.621.430.530 Acanthosis Nigrican|Nigrican, Acanthosis|Nigricans, Acanthosis Skin disease Acanthosis nigricans muscle cramps acral enlargement MESH:C536000 MESH:D000052|MESH:D006628|MESH:D009120 C05.651.475/C536000|C10.597.613.500/C536000|C17.800.329.750/C536000|C17.800.621.430.530.100/C536000|C23.888.592.608.500/C536000|C23.888.971.468/C536000 C05.651.475|C10.597.613.500|C17.800.329.750|C17.800.621.430.530.100|C23.888.592.608.500|C23.888.971.468 Acanthosis Nigricans With Muscle Cramps And Acral Enlargement Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Acatalasia MESH:D020642 DO:DOID:2582|OMIM:614097 A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. MESH:D018901 C16.320.565.663.050|C18.452.648.663.050 C16.320.565.663|C18.452.648.663 Acatalasemia|Acatalasemia Japanese Type|Acatalasemia Swiss Type|ACATALASIA|Catalase Deficiencies|Catalase Deficiency|Deficiencies, Catalase|Deficiency, Catalase|Disease, Takahara|Disease, Takahara's|Hypocatalasemia|Hypocatalasia|Japanese Type, Acatalasemia|Swiss Type, Acatalasemia|Takahara Disease|Takahara's Disease|Takaharas Disease Genetic disease (inborn)|Metabolic disease Accelerated Idioventricular Rhythm MESH:D016170 A type of automatic, not reentrant, ectopic ventricular rhythm with episodes lasting from a few seconds to a minute which usually occurs in patients with acute myocardial infarction or with DIGITALIS toxicity. The ventricular rate is faster than normal but slower than tachycardia, with an upper limit of 100 -120 beats per minute. Suppressive therapy is rarely necessary. MESH:D017180 C14.280.067.845.940.349|C14.280.123.875.940.349|C23.550.073.845.940.349 C14.280.067.845.940|C14.280.123.875.940|C23.550.073.845.940 Accelerated Idioventricular Rhythms|AIVR|Idioventricular Rhythm, Accelerated|Idioventricular Rhythms, Accelerated|Slow Ventricular Tachycardia|Slow Ventricular Tachycardias|Ventricular Tachycardia, Slow|Ventricular Tachycardias, Slow Cardiovascular disease|Pathology (process) Accessory Atrioventricular Bundle MESH:D058606 Extra impulse-conducting tissue in the heart that creates abnormal impulse-conducting connections between HEART ATRIA and HEART VENTRICLES. MESH:D020763 C23.300.190 C23.300 Accessory Atrioventricular Bundles|Accessory Atrioventricular Pathway|Accessory Atrioventricular Pathways|Accessory Conducting Pathway|Accessory Conducting Pathways|Accessory Pathway, Concealed|Accessory Pathway, Fasciculoventricular|Accessory Pathway, Nodoventricular|Accessory Pathways, Concealed|Accessory Pathways, Fasciculoventricular|Accessory Pathways, Nodoventricular|Atrio Hisian Bypass Tract|Atrio-Hisian Bypass Tract|Atrio-Hisian Bypass Tracts|Atriohisian Fiber|Atriohisian Fibers|Atriohisian Tract|Atriohisian Tracts|Atrioventricular Bundle, Accessory|Atrioventricular Bundles, Accessory|Atrioventricular Pathway, Accessory|Atrioventricular Pathways, Accessory|Bundle, Accessory Atrioventricular|Bundle, Kent|Bundle of Kent|Bundles, Accessory Atrioventricular|Bypass Tract, Atrio-Hisian|Bypass Tracts, Atrio-Hisian|Concealed Accessory Pathway|Concealed Accessory Pathways|Conducting Pathway, Accessory|Conducting Pathways, Accessory|Fasciculoventricular Accessory Pathway|Fasciculoventricular Accessory Pathways|Fasciculoventricular Pathway|Fasciculoventricular Pathways|Fiber, Atriohisian|Fiber, Mahaim|Fibers, Atriohisian|Fibers, James|Fibers, Mahaim|James Fibers|Kent Bundle|Mahaim Fiber|Mahaim Fibers|Nodoventricular Accessory Pathway|Nodoventricular Accessory Pathways|Nodoventricular Pathway|Nodoventricular Pathways|Pathway, Accessory Atrioventricular|Pathway, Accessory Conducting|Pathway, Concealed Accessory|Pathway, Fasciculoventricular|Pathway, Fasciculoventricular Accessory|Pathway, Nodoventricular|Pathway, Nodoventricular Accessory|Pathways, Accessory Atrioventricular|Pathways, Accessory Conducting|Pathways, Concealed Accessory|Pathways, Fasciculoventricular|Pathways, Fasciculoventricular Accessory|Pathways, Nodoventricular|Pathways, Nodoventricular Accessory|Tract, Atriohisian|Tract, Atrio-Hisian Bypass|Tracts, Atriohisian|Tracts, Atrio-Hisian Bypass Pathology (anatomical condition) Accessory deep peroneal nerve MESH:C536001 MESH:D010523 C10.668.829/C536001 C10.668.829 Peroneal nerve, accessory deep Nervous system disease Accessory navicular bone MESH:C536002 MESH:D005534 C05.360/C536002|C17.800.321/C536002 C05.360|C17.800.321 Navicular Bone, Accessory Musculoskeletal disease|Skin disease Accessory Nerve Diseases MESH:D020436 DO:DOID:339 Diseases of the eleventh cranial (spinal accessory) nerve. This nerve originates from motor neurons in the lower medulla (accessory portion of nerve) and upper spinal cord (spinal portion of nerve). The two components of the nerve join and exit the skull via the jugular foramen, innervating the sternocleidomastoid and trapezius muscles, which become weak or paralyzed if the nerve is injured. The nerve is commonly involved in MOTOR NEURON DISEASE, and may be injured by trauma to the posterior triangle of the neck. MESH:D003389 C10.292.175 C10.292 Accessory Nerve Disease|Cranial Nerve Eleven Diseases|Cranial Nerve Eleven Disorders|Cranial Nerve XI Diseases|Eleventh Cranial Nerve Disease|Spinal Accessory Nerve Diseases Nervous system disease Accessory Nerve Injuries MESH:D061227 Traumatic injuries to the ACCESSORY NERVE. Damage to the nerve may produce weakness in head rotation and shoulder elevation. MESH:D020209|MESH:D020436 C10.292.175.500|C10.292.200.350|C10.900.300.218.225|C26.915.300.400.200 C10.292.175|C10.292.200|C10.900.300.218|C26.915.300.400 Accessory Nerve Avulsion|Accessory Nerve Avulsions|Accessory Nerve Contusion|Accessory Nerve Contusions|Accessory Nerve Injury|Accessory Nerve Transection|Accessory Nerve Transections|Accessory Nerve Trauma|Accessory Nerve Traumas|Accessory Neuropathies, Traumatic|Accessory Neuropathy, Traumatic|Avulsion, Accessory Nerve|Avulsions, Accessory Nerve|Contusion, Accessory Nerve|Contusions, Accessory Nerve|Cranial Nerve XI Injury|Eleventh Cranial Nerve Injuries|Eleventh Cranial Nerve Injury|Eleventh-Nerve Palsies, Traumatic|Eleventh Nerve Palsy, Traumatic|Eleventh-Nerve Palsy, Traumatic|Eleventh Nerve Trauma|Eleventh-Nerve Trauma|Eleventh-Nerve Traumas|Injuries, Accessory Nerve|Injury, Accessory Nerve|Injury, Cranial Nerve XI|Injury, Eleventh Cranial Nerve|Nerve Avulsion, Accessory|Nerve Avulsions, Accessory|Nerve Contusion, Accessory|Nerve Contusions, Accessory|Nerve Injuries, Accessory|Nerve Injury, Accessory|Nerve Transection, Accessory|Nerve Transections, Accessory|Nerve Trauma, Accessory|Nerve Traumas, Accessory|Neuropathies, Traumatic Accessory|Neuropathy, Traumatic Accessory|Palsies, Traumatic Eleventh-Nerve|Palsy, Traumatic Eleventh-Nerve|Spinal Accessory Nerve Avulsion|Spinal Accessory Nerve Contusion|Spinal Accessory Nerve Injury|Spinal Accessory Nerve Transection|Spinal Accessory Nerve Trauma|Spinal Accessory Neuropathy, Traumatic|Transection, Accessory Nerve|Transections, Accessory Nerve|Trauma, Accessory Nerve|Trauma, Eleventh-Nerve|Traumas, Accessory Nerve|Traumas, Eleventh-Nerve|Traumatic Accessory Neuropathies|Traumatic Accessory Neuropathy|Traumatic Eleventh-Nerve Palsies|Traumatic Eleventh Nerve Palsy|Traumatic Eleventh-Nerve Palsy Nervous system disease|Wounds and injuries Accessory pancreas MESH:C536003 MESH:D000013 C16.131/C536003 C16.131 Congenital abnormality Accidental Injuries MESH:D000081084 Injuries resulting from events or circumstances that are unforeseen, unplanned, unanticipated, and without premeditation. MESH:D014947 C26.040 C26 Accidental Injury|Accident Injuries|Accident Injury|Injuries, Accident|Injuries, Accidental|Injury, Accident|Injury, Accidental Wounds and injuries Accutane embryopathy MESH:C535670 MESH:D000014 C16.131.042/C535670 C16.131.042 Accutane-exposed pregnancies|Isotretinoin embryopathy|Isotretinoin (RoAccutane) embryopathy Congenital abnormality Acetylcarnitine deficiency MESH:C536006 MESH:D008661 C16.320.565/C536006|C18.452.648/C536006 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Acetyl-Coa Carboxylase Deficiency MESH:C562678 OMIM:613933 MESH:D008052 C16.320.565.398/C562678|C18.452.584.563/C562678|C18.452.648.398/C562678 C16.320.565.398|C18.452.584.563|C18.452.648.398 ACACAD|ACACA Deficiency|ACC1 DEFICIENCY Genetic disease (inborn)|Metabolic disease Achalasia Addisonianism Alacrimia syndrome MESH:C536008 OMIM:231550 MESH:D000309|MESH:D004931 C06.405.117.119.500.432/C536008|C19.053.500/C536008 C06.405.117.119.500.432|C19.053.500 AAAS|Aaa Syndrome|Achalasia-Addisonianism-Alacrima Syndrome|Achalasia-Addisonian Syndrome|Achalasia-Alacrima Syndrome|Achalasia alacrimia syndrome|Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima|ACTH resistant adrenal insufficiency, achalasia and alacrima|ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA ACHALASIA-ALACRIMA SYNDROME, INCLUDED|Addisonian achalasia syndrome|Addisonian-Achalasia Syndrome|Alacrima-Achalasia-Addisonianism|Alacrima-achalasia-adrenal insufficiency neurologic disorder|Allgrove syndrome|Glucocorticoid deficiency and achalasia|Hypoadrenalism with achalasia|Infantile achalasia with alacrima|Triple A syndrome|Triple-A Syndrome Digestive system disease|Endocrine system disease Achalasia, familial esophageal MESH:C536011 OMIM:200400 MESH:D004931 C06.405.117.119.500.432/C536011 C06.405.117.119.500.432 Familial esophageal achalasia Digestive system disease Achalasia microcephaly MESH:C536010 DO:DOID:0050796 MESH:D004931|MESH:D008831 C05.660.207.620/C536010|C06.405.117.119.500.432/C536010|C10.500.507.400.500/C536010|C16.131.621.207.620/C536010|C16.131.666.507.400.500/C536010 C05.660.207.620|C06.405.117.119.500.432|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 Achalasia microcephaly syndrome|Achalasia-Microcephaly Syndrome Congenital abnormality|Digestive system disease|Musculoskeletal disease|Nervous system disease Achard syndrome MESH:C536012 DO:DOID:6686 MESH:D004413|MESH:D007593|MESH:D054119 C05.116.099.370/C536012|C05.550.521/C536012|C05.660.585.174/C536012|C16.131.621.585.174/C536012 C05.116.099.370|C05.550.521|C05.660.585.174|C16.131.621.585.174 Arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet|Dysostoses and increased ligament laxity Congenital abnormality|Musculoskeletal disease Achard-Thiers syndrome MESH:C536013 MESH:D010051|MESH:D014770|MESH:D048909 C04.588.322.455/C536013|C12.050.351.500.056.630.705/C536013|C12.050.351.937.418.685/C536013|C12.100.250.056.630.705/C536013|C12.900.418.685/C536013|C19.246.099/C536013|C19.344.410/C536013|C19.391.630.705/C536013|C23.888.971/C536013 C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C19.246.099|C19.344.410|C19.391.630.705|C23.888.971 Adenoma associated virilism of older women|Bearded female with diabetes|Diabetes in bearded women|Diabetic-bearded woman syndrome Cancer|Endocrine system disease|Signs and symptoms|Urogenital disease (female) Acheiropodia MESH:C536014 OMIM:200500 MESH:D005532|MESH:D006228 C05.330.495/C536014|C05.390.408/C536014|C05.660.585.512.380/C536014|C05.660.585.988.425/C536014|C16.131.621.585.512.500/C536014|C16.131.621.585.988.500/C536014 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500 ACHEIROPODIA|Acheiropody|Acheiropody, Brazilian type|ACHP|Brazilian type acheiropody Congenital abnormality|Musculoskeletal disease Achlorhydria MESH:D000126 A lack of HYDROCHLORIC ACID in GASTRIC JUICE despite stimulation of gastric secretion. MESH:D000137|MESH:D013272 C06.405.748.045|C18.452.076.087 C06.405.748|C18.452.076 Achylia Gastrica|Hypochlorhydria Digestive system disease|Metabolic disease Acholinesterasemia MESH:C566750 MESH:D008661 C16.320.565/C566750|C18.452.648/C566750 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Achondrogenesis MESH:C579878 DO:DOID:0080043 MESH:D010009 C05.116.099.708/C579878|C16.320.728/C579878 C05.116.099.708|C16.320.728 Achondrogenesis Syndrome Genetic disease (inborn)|Musculoskeletal disease Achondrogenesis type 1A MESH:C536015 OMIM:200600 MESH:D000130 C05.116.099.343.110/C536015|C05.116.099.708.017/C536015|C16.320.240.500/C536015 C05.116.099.343.110|C05.116.099.708.017|C16.320.240.500 ACG1A|Achondrogenesis, Houston-Harris type|Achondrogenesis, Type Ia|Houston-Harris achondrogenesis Genetic disease (inborn)|Musculoskeletal disease Achondrogenesis type 1B MESH:C536016 OMIM:600972 MESH:D000130 C05.116.099.343.110/C536016|C05.116.099.708.017/C536016|C16.320.240.500/C536016 C05.116.099.343.110|C05.116.099.708.017|C16.320.240.500 ACG1B|Achondrogenesis, Fraccaro type|Achondrogenesis, Type Ib|Fraccaro achondrogenesis Genetic disease (inborn)|Musculoskeletal disease Achondrogenesis type 2 MESH:C536017 DO:DOID:0080056|OMIM:200610 MESH:D000130 C05.116.099.343.110/C536017|C05.116.099.708.017/C536017|C16.320.240.500/C536017 C05.116.099.343.110|C05.116.099.708.017|C16.320.240.500 ACG2|Achondrogenesis, Langer-Saldino type|ACHONDROGENESIS, TYPE IB, FORMERLY HYPOCHONDROGENESIS, INCLUDED|Achondrogenesis, Type II|Chondrogenesis imperfecta|Langer-Saldino achondrogenesis Genetic disease (inborn)|Musculoskeletal disease Achondrogenesis, type 3 MESH:C536018 MESH:D000130 C05.116.099.343.110/C536018|C05.116.099.708.017/C536018|C16.320.240.500/C536018 C05.116.099.343.110|C05.116.099.708.017|C16.320.240.500 Type 3 Achondrogenesis Genetic disease (inborn)|Musculoskeletal disease Achondrogenesis, type 4 MESH:C536019 MESH:D000130 C05.116.099.343.110/C536019|C05.116.099.708.017/C536019|C16.320.240.500/C536019 C05.116.099.343.110|C05.116.099.708.017|C16.320.240.500 Type 4 Achondrogenesis Genetic disease (inborn)|Musculoskeletal disease Achondroplasia MESH:D000130 DO:DOID:0111158|DO:DOID:4480|OMIM:100800|OMIM:616482 An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) MESH:D004392|MESH:D010009 C05.116.099.343.110|C05.116.099.708.017|C16.320.240.500 C05.116.099.343|C05.116.099.708|C16.320.240 ACH|Achondroplasias|Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans|Dysplasia, SADDAN|Dysplasias, SADDAN|SADDAN|SADDAN Dysplasia|SADDAN Dysplasias|SADDANs|Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans|Skeleton Skin Brain Syndrome|Skeleton-Skin-Brain Syndrome|Skeleton-Skin-Brain Syndromes|Syndrome, Skeleton-Skin-Brain|Syndromes, Skeleton-Skin-Brain Genetic disease (inborn)|Musculoskeletal disease Achondroplasia and Swiss type agammaglobulinemia MESH:C536020 MESH:D000130|MESH:D000361 C05.116.099.343.110/C536020|C05.116.099.708.017/C536020|C15.378.147.142/C536020|C15.604.515.032/C536020|C16.320.240.500/C536020|C20.673.088/C536020 C05.116.099.343.110|C05.116.099.708.017|C15.378.147.142|C15.604.515.032|C16.320.240.500|C20.673.088 Agammaglobulinaemia and achondroplasia Blood disease|Genetic disease (inborn)|Immune system disease|Lymphatic disease|Musculoskeletal disease Achondroplastic dwarfism MESH:C531599 MESH:D000130 C05.116.099.343.110/C531599|C05.116.099.708.017/C531599|C16.320.240.500/C531599 C05.116.099.343.110|C05.116.099.708.017|C16.320.240.500 Genetic disease (inborn)|Musculoskeletal disease Achromatopsia 1 MESH:C536021 MESH:D003117 C10.597.751.941.256/C536021|C11.270.151.500/C536021|C11.966.256/C536021|C23.888.592.763.941.256/C536021 C10.597.751.941.256|C11.270.151.500|C11.966.256|C23.888.592.763.941.256 Rod monochromacy|Rod monochromatism Eye disease|Nervous system disease|Signs and symptoms Achromatopsia 2 MESH:C536128 DO:DOID:0110007|OMIM:216900 MESH:D003117 C10.597.751.941.256/C536128|C11.270.151.500/C536128|C11.966.256/C536128|C23.888.592.763.941.256/C536128 C10.597.751.941.256|C11.270.151.500|C11.966.256|C23.888.592.763.941.256 ACHM2|Colorblindness, Total|RMCH2|Rod monochromacy 2|Rod monochromatism 2|Total color blindness Eye disease|Nervous system disease|Signs and symptoms Achromatopsia 3 MESH:C536129 DO:DOID:0110008|OMIM:262300 MESH:D003117 C10.597.751.941.256/C536129|C11.270.151.500/C536129|C11.966.256/C536129|C23.888.592.763.941.256/C536129 C10.597.751.941.256|C11.270.151.500|C11.966.256|C23.888.592.763.941.256 ACHM1, FORMERLY|Achm3|ACHM 3|Achromatopsia with myopia|Pingelapese|Pingelapese Blindness|RMCH1, FORMERLY|ROD MONOCHROMACY 1, FORMERLY|ROD MONOCHROMATISM 1, FORMERLY|Total colorblindness with myopia Eye disease|Nervous system disease|Signs and symptoms Achromatopsia 4 MESH:C564206 DO:DOID:0110010|OMIM:613856 MESH:D003117|MESH:D015785 C10.597.751.941.256/C564206|C11.270.151.500/C564206|C11.270/C564206|C11.966.256/C564206|C16.320.290/C564206|C23.888.592.763.941.256/C564206 C10.597.751.941.256|C11.270|C11.270.151.500|C11.966.256|C16.320.290|C23.888.592.763.941.256 ACHM4 Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Achromatopsia 5 MESH:C567759 MESH:D003117|MESH:D015785 C10.597.751.941.256/C567759|C11.270.151.500/C567759|C11.270/C567759|C11.966.256/C567759|C16.320.290/C567759|C23.888.592.763.941.256/C567759 C10.597.751.941.256|C11.270|C11.270.151.500|C11.966.256|C16.320.290|C23.888.592.763.941.256 Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms ACHROMATOPSIA 7 OMIM:616517 DO:DOID:0110009 MESH:D003117 C10.597.751.941.256/616517|C11.270.151.500/616517|C11.966.256/616517|C23.888.592.763.941.256/616517 C10.597.751.941.256|C11.270.151.500|C11.966.256|C23.888.592.763.941.256 ACHM7 Eye disease|Nervous system disease|Signs and symptoms Achromatopsia incomplete, X-linked MESH:C538165 MESH:D003117|MESH:D040181 C10.597.751.941.256/C538165|C11.270.151.500/C538165|C11.966.256/C538165|C16.320.322/C538165|C23.888.592.763.941.256/C538165 C10.597.751.941.256|C11.270.151.500|C11.966.256|C16.320.322|C23.888.592.763.941.256 Incomplete achromatopsia , X-linked|X-linked achromatopsia, incomplete Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Acid-Base Imbalance MESH:D000137 Disturbances in the ACID-BASE EQUILIBRIUM of the body. MESH:D008659 C18.452.076 C18.452 Acid Base Imbalance|Acid-Base Imbalances|Imbalance, Acid-Base|Imbalances, Acid-Base Metabolic disease Acidemia, isovaleric MESH:C538167 DO:DOID:14753|OMIM:243500 MESH:D000592 C16.320.565.100/C538167|C18.452.648.100/C538167 C16.320.565.100|C18.452.648.100 Isovaleric acid CoA dehydrogenase deficiency|Isovaleric Acid-CoA Dehydrogenase Deficiency|Isovaleric acidemia|Isovaleryl CoA carboxylase deficiency|Isovaleryl-CoA Dehydrogenase Deficiency|IVA|IVD DEFICIENCY Genetic disease (inborn)|Metabolic disease ACID-LABILE SUBUNIT DEFICIENCY OMIM:615961 MESH:D006130 C23.550.393/615961 C23.550.393 ACLSD Pathology (process) Acidosis MESH:D000138 A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up. MESH:D000137 C18.452.076.176 C18.452.076 Acidoses|Acidoses, Metabolic|Acidosis, Metabolic|Metabolic Acidoses|Metabolic Acidosis Metabolic disease Acidosis, Lactic MESH:D000140 DO:DOID:3650 Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE. MESH:D000138 C18.452.076.176.180 C18.452.076.176 Lactic Acidosis Metabolic disease Acidosis, Renal Tubular MESH:D000141 DO:DOID:14219|OMIM:179800 A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS. MESH:D000138|MESH:D015499 C12.050.351.968.419.815.093|C12.200.777.419.815.093|C12.950.419.815.093|C16.320.831.093|C18.452.076.176.210 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.831|C18.452.076.176 Acidosis, Renal Tubular, Type I|Acidosis, Renal Tubular, Type II|Autosomal Dominant Distal Renal Tubular Acidosis|Classic Distal Renal Tubular Acidosis|Classic Type RTA|Classic Type RTAs|Distal Renal Tubular Acidosis|DRTA1|Gradient Type RTA|Gradient Type RTAs|Proximal Renal Tubular Acidosis|Proximal Type RTA|Proximal Type RTAs|Renal Tubular Acidosis|Renal Tubular Acidosis 1|RENAL TUBULAR ACIDOSIS, DISTAL, 1|Renal Tubular Acidosis, Distal, Autosomal Dominant|Renal Tubular Acidosis I|Renal Tubular Acidosis II|Renal Tubular Acidosis, Proximal|Renal Tubular Acidosis, Proximal, with Ocular Abnormalities|Renal Tubular Acidosis, Type I|Renal Tubular Acidosis, Type II|RTA, Classic Type|RTA, Distal Type, Autosomal Dominant|RTA, Gradient Type|RTA, Proximal Type|RTAs, Classic Type|RTAs, Gradient Type|RTAs, Proximal Type|Type II Renal Tubular Acidosis|Type I Renal Tubular Acidosis Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Acidosis, Respiratory MESH:D000142 Respiratory retention of carbon dioxide. It may be chronic or acute. MESH:D000138|MESH:D012131 C08.618.846.093|C18.452.076.176.310 C08.618.846|C18.452.076.176 Acidoses, Respiratory|Respiratory Acidoses|Respiratory Acidosis Metabolic disease|Respiratory tract disease Acid Phosphatase Deficiency MESH:C562645 OMIM:200950 MESH:D008661 C16.320.565/C562645|C18.452.648/C562645 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Acinetobacter Infections MESH:D000151 Infections with bacteria of the genus ACINETOBACTER. MESH:D045828 C01.150.252.400.560.022 C01.150.252.400.560 Acinetobacter Infection|Infection, Acinetobacter|Infection, Mimae|Infections, Acinetobacter|Infections, Mimae|Mimae Infection|Mimae Infections Bacterial infection or mycosis Acitretin embryopathy MESH:C538169 MESH:D000014 C16.131.042/C538169 C16.131.042 Acitretine embryofetopathy Congenital abnormality Ackerman syndrome MESH:C538170 MESH:D005901|MESH:D014071|MESH:D019767 C05.660.207.540/C538170|C07.650.500/C538170|C07.650.800/C538170|C07.793.700/C538170|C11.525.381/C538170|C16.131.621.207.540/C538170|C16.131.850.500/C538170|C16.131.850.800/C538170 C05.660.207.540|C07.650.500|C07.650.800|C07.793.700|C11.525.381|C16.131.621.207.540|C16.131.850.500|C16.131.850.800 Glaucoma, Juvenile, With Unusual Upper Lip And Dental Roots|Juvenile glaucoma with unusual upper lip and dental roots|Molar Roots, Pyramidal, With Juvenile Glaucoma And Unusual Upper Lip|Pyramidal molars, glaucoma, abnormal upper lip Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Acne, Adult MESH:C565791 MESH:D000152 C17.800.030.150/C565791|C17.800.794.111/C565791 C17.800.030.150|C17.800.794.111 Skin disease Acne Conglobata MESH:D000069316 Severe and chronic form of acne characterized by large, burrowing abscesses associated with disfigurement. MESH:D000152 C17.800.030.150.500|C17.800.794.111.500 C17.800.030.150|C17.800.794.111 Acne Conglobatas|Conglobata, Acne|Conglobatas, Acne Skin disease Acneiform Eruptions MESH:D017486 Visible efflorescent lesions of the skin caused by acne or resembling acne. (Dorland, 28th ed, p18, 575) MESH:D012871 C17.800.030 C17.800 Acneiform Eruption|Eruption, Acneiform|Eruptions, Acneiform Skin disease Acne Keloid MESH:D000153 A type of acneiform disorder in which secondary pyogenic infection in and around pilosebaceous structures ends in keloidal scarring. It manifests as persistent folliculitis of the back of the neck associated with occlusion of the follicular orifices. It is most often encountered in black or Asian men. MESH:D005499|MESH:D007627|MESH:D017486 C17.300.200.425.125|C17.800.030.030|C17.800.329.500.261 C17.300.200.425|C17.800.030|C17.800.329.500 Acne, Keloidal|Acne Keloidalis|Acne Keloids|Acne, Nuchal Keloid|Acnes, Nuchal Keloid|Capillitii, Dermatitis Papillaris|Capillitius, Dermatitis Papillaris|Dermatitis Papillaris Capillitii|Dermatitis Papillaris Capillitius|Folliculitis Keloidalis|Folliculitis Keloidalis Nuchae|Keloid, Acne|Keloid Acne, Nuchal|Keloid Acnes, Nuchal|Keloidal Acne|Keloidal Acnes|Keloidalis Nuchae, Folliculitis|Keloidalis Nuchae, Lichen|Keloids, Acne|Lichen Keloidalis Nuchae|Nuchae, Folliculitis Keloidalis|Nuchae, Lichen Keloidalis|Nuchal Keloid Acne|Nuchal Keloid Acnes|Papillaris Capillitii, Dermatitis|Papillaris Capillitius, Dermatitis Connective tissue disease|Skin disease Acne Vulgaris MESH:D000152 DO:DOID:6543 A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors. MESH:D012625|MESH:D017486 C17.800.030.150|C17.800.794.111 C17.800.030|C17.800.794 Acne Skin disease Acquired agranulocytosis MESH:C538171 MESH:D000380 C15.378.553.546.184/C538171 C15.378.553.546.184 Agranulocytic Angina|Granulocytopenia, Primary|Neutropenia, Malignant Blood disease Acquired amegakaryocytic thrombocytopenia MESH:C538172 MESH:D001855|MESH:D011696 C15.378.100.802.687/C538172|C15.378.140.855.925.750/C538172|C15.378.190/C538172|C20.841/C538172|C23.550.414.950.687/C538172|C23.888.885.687.687/C538172 C15.378.100.802.687|C15.378.140.855.925.750|C15.378.190|C20.841|C23.550.414.950.687|C23.888.885.687.687 Blood disease|Immune system disease|Pathology (process)|Signs and symptoms Acquired angioedema MESH:C538173 DO:DOID:0080941 MESH:D000799 C14.907.079/C538173|C17.800.862.945.066/C538173|C20.543.480.904.066/C538173 C14.907.079|C17.800.862.945.066|C20.543.480.904.066 Cardiovascular disease|Immune system disease|Skin disease Acquired CJD MESH:C538481 MESH:D007562|MESH:D016643 C01.207.800.230/C538481|C01.207.800.260/C538481|C10.228.140.380.165/C538481|C10.228.228.800.230/C538481|C10.228.228.800.260/C538481|C10.574.843.300/C538481|C22.196.250/C538481|F03.615.400.300/C538481 C01.207.800.230|C01.207.800.260|C10.228.140.380.165|C10.228.228.800.230|C10.228.228.800.260|C10.574.843.300|C22.196.250|F03.615.400.300 Sporadic CJD Animal disease|Mental disorder|Nervous system disease Acquired Hyperostosis Syndrome MESH:D020083 DO:DOID:13677 Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome. MESH:D010009 C05.116.099.708.025 C05.116.099.708 Acquired Hyperostosis Syndromes|Hyperostosis Syndrome, Acquired|Hyperostosis Syndromes, Acquired|SAPHO Syndrome|SAPHO Syndromes|Syndrome, Acquired Hyperostosis|Syndromes, Acquired Hyperostosis|Syndrome, SAPHO|Syndromes, SAPHO|Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis Musculoskeletal disease Acquired hypoprothrombinemia MESH:C538174 MESH:D007020 C15.378.100.100.550/C538174|C15.378.100.141.550/C538174|C15.378.463.550/C538174|C16.320.099.550/C538174 C15.378.100.100.550|C15.378.100.141.550|C15.378.463.550|C16.320.099.550 Hypoprothrombinemia, acquired Blood disease|Genetic disease (inborn) Acquired ichthyosis MESH:C538175 MESH:D007057 C16.131.831.512/C538175|C16.614.492/C538175|C17.800.428.333/C538175|C17.800.804.512/C538175 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 Fish scale disease, acquired|Ichthyosis acquisita Congenital abnormality|Infant-newborn disease|Skin disease Acquired Immunodeficiency Syndrome MESH:D000163 DO:DOID:635 An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993. MESH:D012897|MESH:D015658 C01.221.250.875.040|C01.221.812.640.400.040|C01.778.640.400.040|C01.925.782.815.616.400.040|C01.925.813.400.040|C01.925.839.040|C12.100.937.640.400.040|C20.673.480.040 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C01.925.839|C12.100.937.640.400|C20.673.480 Acquired Immune Deficiency Syndrome|Acquired Immuno Deficiency Syndrome|Acquired Immuno-Deficiency Syndrome|Acquired Immunodeficiency Syndromes|Acquired Immuno-Deficiency Syndromes|AIDS|Immunodeficiency Syndrome, Acquired|Immuno-Deficiency Syndrome, Acquired|Immunodeficiency Syndromes, Acquired|Immuno-Deficiency Syndromes, Acquired|Immunologic Deficiency Syndrome, Acquired|Syndrome, Acquired Immunodeficiency|Syndrome, Acquired Immuno-Deficiency|Syndromes, Acquired Immunodeficiency|Syndromes, Acquired Immuno-Deficiency Immune system disease|Viral disease Acquired Protein S Deficiency MESH:C567077 MESH:D018455 C15.378.100.800/C567077|C15.378.147.890/C567077|C15.378.925.800/C567077 C15.378.100.800|C15.378.147.890|C15.378.925.800 Blood disease Acquired pure megakaryocytic aplasia MESH:C538176 MESH:D001855|MESH:D013921 C15.378.140.855/C538176|C15.378.190/C538176 C15.378.140.855|C15.378.190 Blood disease Acrocallosal Syndrome MESH:D055673 DO:DOID:9250|OMIM:200990 Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation. MESH:D061085 C10.500.034.500|C16.131.666.034.500 C10.500.034|C16.131.666.034 ACLS|Acrocallosal Syndromes|Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum|JBTS12, INCLUDED|JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED|SCHINZEL ACROCALLOSAL SYNDROME JOUBERT SYNDROME 12, INCLUDED|Syndrome, Acrocallosal|Syndromes, Acrocallosal Congenital abnormality|Nervous system disease Acrocallosal syndrome, Schinzel type MESH:C538177 MESH:D055673 C10.500.034.500/C538177|C16.131.666.034.500/C538177 C10.500.034.500|C16.131.666.034.500 Schinzel acrocallosal syndrome|Schinzel syndrome 1 Congenital abnormality|Nervous system disease Acrocapitofemoral Dysplasia MESH:C564334 DO:DOID:0050604|OMIM:607778 MESH:D001848|MESH:D006130|MESH:D059327 C05.116.099/C564334|C05.660.585.262/C564334|C16.131.621.585.262/C564334|C23.550.393/C564334 C05.116.099|C05.660.585.262|C16.131.621.585.262|C23.550.393 ACFD Congenital abnormality|Musculoskeletal disease|Pathology (process) Acrocephalopolydactylous Dysplasia MESH:C573722 MESH:D000015|MESH:D006130 C16.131.077/C573722|C23.550.393/C573722 C16.131.077|C23.550.393 Elejalde syndrome Congenital abnormality|Pathology (process) Acrocephalopolysyndactyly Type II MESH:C563187 DO:DOID:0060234|OMIM:201000|OMIM:614976 MESH:D000168 C05.116.099.370.894.232.015/C563187|C05.116.099.370.894.819.100/C563187|C05.660.207.240.100/C563187|C05.660.585.800.100/C563187|C05.660.906.364.100/C563187|C05.660.906.819.100/C563187|C16.131.621.207.240.100/C563187|C16.131.621.585.800.100/C563187|C16.131.621.906.364.100/C563187|C16.131.621.906.819.100/C563187 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.660.207.240.100|C05.660.585.800.100|C05.660.906.364.100|C05.660.906.819.100|C16.131.621.207.240.100|C16.131.621.585.800.100|C16.131.621.906.364.100|C16.131.621.906.819.100 ACPS II|ACROCEPHALOPOLYSYNDACTYLY TYPE II|Carpenter Syndrome|CARPENTER SYNDROME 1|CARPENTER SYNDROME 2|CRPT1|CRPT2 Congenital abnormality|Musculoskeletal disease Acrocephalosyndactylia MESH:D000168 DO:DOID:12960|DO:DOID:14705|DO:DOID:14768|OMIM:101200|OMIM:101400 Congenital craniostenosis with syndactyly. MESH:D003398|MESH:D013576 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.660.207.240.100|C05.660.585.800.100|C05.660.906.364.100|C05.660.906.819.100|C16.131.621.207.240.100|C16.131.621.585.800.100|C16.131.621.906.364.100|C16.131.621.906.819.100 C05.116.099.370.894.232|C05.116.099.370.894.819|C05.660.207.240|C05.660.585.800|C05.660.906.364|C05.660.906.819|C16.131.621.207.240|C16.131.621.585.800|C16.131.621.906.364|C16.131.621.906.819 Acrocephalosyndactylias|Acrocephalosyndactylies, Type 1|Acrocephalosyndactylies, Type 3|Acrocephalosyndactylies, Type I|Acrocephalosyndactylies, Type II|Acrocephalosyndactylies, Type III|Acrocephalosyndactylies, Type V|Acrocephalosyndactyly (Apert)|Acrocephalosyndactyly III|Acrocephalosyndactyly IIIs|Acrocephalosyndactyly, Type 1|Acrocephalosyndactyly, Type 3|Acrocephalosyndactyly, Type I|Acrocephalosyndactyly, Type II|Acrocephalosyndactyly, Type III|ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED|Acrocephalosyndactyly, Type V|Acrocephaly, Skull Asymmetry, and Mild Syndactyly|ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED|ACS1|ACS3|ACS I APERT-CROUZON DISEASE, INCLUDED|ACS III|ACS II, INCLUDED|Apert Crouzon Disease|Apert-Crouzon Disease|Apert Syndrome|BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED|Chotzen Syndrome|Craniofacial-Skeletal-Dermatologic Dysplasia|Disease, Apert-Crouzon|Dysostosis Craniofacialis with Hypertelorism|Kurczynski Casperson Syndrome|Noack Syndrome|Noack Syndromes|Pfeiffer Syndrome|Saethre Chotzen Syndrome|Saethre-Chotzen Syndrome|SCS|Syndactylic Oxycephalies|Syndactylic Oxycephaly|Syndrome, Apert|Syndrome, Chotzen|Syndrome, Kurczynski Casperson|Syndrome, Noack|Syndrome, Pfeiffer|Syndrome, Saethre-Chotzen|Syndromes, Noack|Type I Acrocephalosyndactylies|Type I Acrocephalosyndactyly|Type II Acrocephalosyndactylies|Type II Acrocephalosyndactyly|Type III Acrocephalosyndactyly|Type V Acrocephalosyndactylies|Type V Acrocephalosyndactyly|VOGT CEPHALODACTYLY, INCLUDED Congenital abnormality|Musculoskeletal disease Acrodermatitis MESH:D000169 DO:DOID:2722 Inflammation involving the skin of the extremities, especially the hands and feet. Several forms are known, some idiopathic and some hereditary. The infantile form is called Gianotti-Crosti syndrome. MESH:D003872|MESH:D012868 C16.131.831.066|C17.800.174.100|C17.800.804.066 C16.131.831|C17.800.174|C17.800.804 Acrodermatitides|Acrodermatitis Papulosa Infantum|Acrodermatitis Papulosa Infantums|Acropapulo Vesicular Syndrome|Acropapulo-Vesicular Syndrome|Acropapulo-Vesicular Syndromes|Childhood Papular Acrodermatitides|Childhood Papular Acrodermatitis|Erythemato Vesiculo Papulous Eruptive Syndrome|Erythemato-Vesiculo-Papulous Eruptive Syndrome|Erythemato-Vesiculo-Papulous Eruptive Syndromes|Gianotti Crosti Syndrome|Gianotti-Crosti Syndrome|Infantile Papular Acrodermatitides|Infantile Papular Acrodermatitis|Papular Acrodermatitides, Infantile|Papular Acrodermatitis, Infantile|Papular Acrodermatitis of Childhood|Papulovesicular Acrolocated Syndrome|Papulovesicular Acrolocated Syndromes|Syndrome, Acropapulo-Vesicular|Syndrome, Erythemato-Vesiculo-Papulous Eruptive|Syndrome, Gianotti-Crosti|Syndromes, Acropapulo-Vesicular|Syndromes, Erythemato-Vesiculo-Papulous Eruptive|Syndromes, Papulovesicular Acrolocated Congenital abnormality|Skin disease Acrodermatitis enteropathica MESH:C538178 DO:DOID:0050605|OMIM:201100 MESH:D000169 C16.131.831.066/C538178|C17.800.174.100/C538178|C17.800.804.066/C538178 C16.131.831.066|C17.800.174.100|C17.800.804.066 Acrodermatitis enteropathica zinc deficiency type|Acrodermatitis Enteropathica, Zinc-Deficiency Type|AEZ Congenital abnormality|Skin disease Acrodynia MESH:D000170 A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603) MESH:D010523|MESH:D020262 C10.668.829.025|C10.720.475.600.150|C25.723.522.875.500.100 C10.668.829|C10.720.475.600|C25.723.522.875.500 Acrodynic Erythema|Childhood Mercurialism, Chronic|Childhood Mercurialisms, Chronic|Chronic Childhood Mercurialism|Chronic Childhood Mercurialisms|Erythema, Acrodynic|Feer Disease|Feer's Disease|Feers Disease|Mercurialism, Chronic Childhood|Pink Disease|Swift Disease|Swift's Disease|Swifts Disease Nervous system disease Acrodysostosis MESH:C538179 DO:DOID:14669|OMIM:101800|OMIM:614613 MESH:D004413|MESH:D008607|MESH:D010009 C05.116.099.370/C538179|C05.116.099.708/C538179|C10.597.606.360/C538179|C16.320.728/C538179|C23.888.592.604.646/C538179|F03.625.539/C538179 C05.116.099.370|C05.116.099.708|C10.597.606.360|C16.320.728|C23.888.592.604.646|F03.625.539 ACRDYS1|ACRDYS2|Acrodysostosis 1 with or without hormone resistance|ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE|Acrodysostosis 2, with or without hormone resistance|Acrodysplasia|ADOHR|Arkless-Graham syndrome|Maroteaux-Malamut syndrome|Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome|Peripheral Dysostosis|Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Acrodysplasia scoliosis MESH:C538180 MESH:D010009|MESH:D012600 C05.116.099.708/C538180|C05.116.900.800.875/C538180|C16.320.728/C538180 C05.116.099.708|C05.116.900.800.875|C16.320.728 Brachydactyly, scoliosis, spina bifida occulta, and carpal synostosis|Prata Liberal Goncalves syndrome|Prata Libéral Gonçalves syndrome Genetic disease (inborn)|Musculoskeletal disease Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia MESH:C538181 MESH:D010009 C05.116.099.708/C538181|C16.320.728/C538181 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Acrofacial dysostosis Catania form MESH:C538182 DO:DOID:0060384 MESH:D008342|MESH:D014096 C05.116.099.370.231.576/C538182|C05.660.207.231.576/C538182|C07.650.800.850/C538182|C07.793.700.850/C538182|C11.270.147.750/C538182|C16.131.621.207.231.576/C538182|C16.131.850.800.850/C538182 C05.116.099.370.231.576|C05.660.207.231.576|C07.650.800.850|C07.793.700.850|C11.270.147.750|C16.131.621.207.231.576|C16.131.850.800.850 Acrofacial Dysostosis, Catania Type|Opitz Mollica Sorge syndrome Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE OMIM:616462 DO:DOID:0060353 MESH:D008342 C05.116.099.370.231.576/616462|C05.660.207.231.576/616462|C11.270.147.750/616462|C16.131.621.207.231.576/616462 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C16.131.621.207.231.576 AFDCIN Congenital abnormality|Eye disease|Musculoskeletal disease Acrofacial dysostosis, Nager type MESH:C538184 OMIM:154400 MESH:D008342 C05.116.099.370.231.576/C538184|C05.660.207.231.576/C538184|C11.270.147.750/C538184|C16.131.621.207.231.576/C538184 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C16.131.621.207.231.576 Acrofacial Dysostosis 1, Nager Type|Afd1|AFD, Nager type|Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies|Nager Acrofacial Dysostosis|Nager Acrofacial Dysostosis Syndrome|Nager syndrome|Preaxial acrofacial dysostosis|Preaxial Mandibulofacial Dysostosis Congenital abnormality|Eye disease|Musculoskeletal disease Acrofacial dysostosis, Palagonia type MESH:C538185 DO:DOID:0060385 MESH:D006228|MESH:D008342|MESH:D014096 C05.116.099.370.231.576/C538185|C05.390.408/C538185|C05.660.207.231.576/C538185|C05.660.585.988.425/C538185|C07.650.800.850/C538185|C07.793.700.850/C538185|C11.270.147.750/C538185|C16.131.621.207.231.576/C538185|C16.131.621.585.988.500/C538185|C16.131.850.800.850/C538185 C05.116.099.370.231.576|C05.390.408|C05.660.207.231.576|C05.660.585.988.425|C07.650.800.850|C07.793.700.850|C11.270.147.750|C16.131.621.207.231.576|C16.131.621.585.988.500|C16.131.850.800.850 Palagonia type of acrofacial dysostosis Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Acrofacial dysostosis Rodriguez type MESH:C538183 DO:DOID:0060383 MESH:D006228|MESH:D008342 C05.116.099.370.231.576/C538183|C05.390.408/C538183|C05.660.207.231.576/C538183|C05.660.585.988.425/C538183|C11.270.147.750/C538183|C16.131.621.207.231.576/C538183|C16.131.621.585.988.500/C538183 C05.116.099.370.231.576|C05.390.408|C05.660.207.231.576|C05.660.585.988.425|C11.270.147.750|C16.131.621.207.231.576|C16.131.621.585.988.500 Acrofacial Dysostosis Syndrome Of Rodriguez|Rodriguez lethal acrofacial dysostosis syndrome Congenital abnormality|Eye disease|Musculoskeletal disease Acrofrontofacionasal dysostosis syndrome MESH:C538186 DO:DOID:0060226 MESH:D008342 C05.116.099.370.231.576/C538186|C05.660.207.231.576/C538186|C11.270.147.750/C538186|C16.131.621.207.231.576/C538186 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C16.131.621.207.231.576 Acro fronto facio nasal dysostosis|Acrofrontofacionasal Dysostosis 1|Cleft lip-palate with frontonasal dysostosis and postaxial polysyndactyly|Polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip-palate Congenital abnormality|Eye disease|Musculoskeletal disease Acrogeria, gottron type MESH:C538187 MESH:D011371 C16.320.488.875/C538187|C16.320.565.753/C538187|C18.452.648.753/C538187 C16.320.488.875|C16.320.565.753|C18.452.648.753 Acrometageria|Metageria Genetic disease (inborn)|Metabolic disease Acrokeratoderma, Hereditary Papulotranslucent MESH:C566323 DO:DOID:0060360 MESH:D005533|MESH:D007642 C17.800.321.125/C566323|C17.800.428/C566323 C17.800.321.125|C17.800.428 Skin disease Acrokeratoelastoidosis of Costa MESH:C535653 DO:DOID:0060362 MESH:D007645 C16.320.850.475/C535653|C17.800.428.435/C535653|C17.800.827.475/C535653 C16.320.850.475|C17.800.428.435|C17.800.827.475 Collagenous plaques of hand and feet|Collagenous Plaques Of Hands And Feet|Palmoplantar keratoderma, punctate type 3 Genetic disease (inborn)|Skin disease Acroleukopathy, Symmetric MESH:C566322 MESH:D010859 C17.800.621/C566322|C23.550.755/C566322 C17.800.621|C23.550.755 Pathology (process)|Skin disease Acromegaloid facial appearance syndrome MESH:C535655 MESH:D000172|MESH:D006983|MESH:D017880 C05.116.132.082/C535655|C05.660.585/C535655|C10.228.140.617.738.250.100/C535655|C16.131.621.585/C535655|C17.800.329.875/C535655|C19.700.355.179/C535655 C05.116.132.082|C05.660.585|C10.228.140.617.738.250.100|C16.131.621.585|C17.800.329.875|C19.700.355.179 Thick lips and oral mucosa Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Nervous system disease|Skin disease Acromegaloid features, overgrowth, cleft palate, and hernia MESH:C535656 OMIM:606049 MESH:D000015|MESH:D000172|MESH:D002972|MESH:D006130|MESH:D006547 C05.116.132.082/C535656|C05.500.460.185/C535656|C05.660.207.540.460.185/C535656|C07.320.440.185/C535656|C07.465.525.185/C535656|C07.650.500.460.185/C535656|C07.650.525.185/C535656|C10.228.140.617.738.250.100/C535656|C16.131.077/C535656|C16.131.621.207.540.460.185/C535656|C16.131.850.500.460.185/C535656|C16.131.850.525.185/C535656|C19.700.355.179/C535656|C23.300.707/C535656|C23.550.393/C535656 C05.116.132.082|C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.228.140.617.738.250.100|C16.131.077|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C19.700.355.179|C23.300.707|C23.550.393 AOCH Congenital abnormality|Endocrine system disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process) Acromegaly MESH:D000172 DO:DOID:2449 A condition caused by prolonged exposure to excessive HUMAN GROWTH HORMONE in adults. It is characterized by bony enlargement of the FACE; lower jaw (PROGNATHISM); hands; FEET; HEAD; and THORAX. The most common etiology is a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. (From Joynt, Clinical Neurology, 1992, Ch36, pp79-80) MESH:D001849|MESH:D006964 C05.116.132.082|C10.228.140.617.738.250.100|C19.700.355.179 C05.116.132|C10.228.140.617.738.250|C19.700.355 Hypersecretion Syndrome, Somatotropin (Acromegaly)|Hypersecretion Syndromes, Somatotropin (Acromegaly)|Inappropriate GH Secretion Syndrome (Acromegaly)|Inappropriate Growth Hormone Secretion Syndrome (Acromegaly)|Somatotropin Hypersecretion Syndrome (Acromegaly)|Somatotropin Hypersecretion Syndromes (Acromegaly)|Syndrome, Somatotropin Hypersecretion (Acromegaly)|Syndromes, Somatotropin Hypersecretion (Acromegaly) Endocrine system disease|Musculoskeletal disease|Nervous system disease Acromelic Frontonasal Dysostosis MESH:C566345 DO:DOID:0060342|OMIM:603671 MESH:D008342 C05.116.099.370.231.576/C566345|C05.660.207.231.576/C566345|C11.270.147.750/C566345|C16.131.621.207.231.576/C566345 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C16.131.621.207.231.576 AFND Congenital abnormality|Eye disease|Musculoskeletal disease Acromelic frontonasal dysplasia MESH:C535657 MESH:D000172 C05.116.132.082/C535657|C10.228.140.617.738.250.100/C535657|C19.700.355.179/C535657 C05.116.132.082|C10.228.140.617.738.250.100|C19.700.355.179 Endocrine system disease|Musculoskeletal disease|Nervous system disease Acromesomelic dysplasia MESH:C535658 DO:DOID:0080049 MESH:D004392|MESH:D010009 C05.116.099.343/C535658|C05.116.099.708/C535658|C16.320.240/C535658|C16.320.728/C535658|C19.297/C535658 C05.116.099.343|C05.116.099.708|C16.320.240|C16.320.728|C19.297 Acromesomelic Dwarfism|Acromesomelic dysplasia Hunter Thompson type|Acromesomelic dysplasia Hunter-Thompson type|Acromesomelic Dysplasia, Hunter-Thompson Type|St Helena dysplasia|St. Helena Dysplasia Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease ACROMESOMELIC DYSPLASIA 2C OMIM:201250 DO:DOID:0080051 MESH:C535658 C05.116.099.343/C535658/201250|C05.116.099.708/C535658/201250|C16.320.240/C535658/201250|C16.320.728/C535658/201250|C19.297/C535658/201250 C05.116.099.343/C535658|C05.116.099.708/C535658|C16.320.240/C535658|C16.320.728/C535658|C19.297/C535658 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE;AMDH ACROMESOMELIC DWARFISM|AMD2C Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Acromesomelic dysplasia Campailla-Martinelli type MESH:C535659 MESH:D004392|MESH:D010009 C05.116.099.343/C535659|C05.116.099.708/C535659|C16.320.240/C535659|C16.320.728/C535659|C19.297/C535659 C05.116.099.343|C05.116.099.708|C16.320.240|C16.320.728|C19.297 Acromesomelic dysplasia Campailla Martinelli type|Mesomelic dwarfism Campailla-Martinelli type Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Acromesomelic dysplasia, Maroteaux type MESH:C535661 DO:DOID:0080050|OMIM:602875 MESH:D001848 C05.116.099/C535661 C05.116.099 Acromesomelic dwarfism Maroteux type|ACROMESOMELIC DYSPLASIA 1|ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE|AMD1|AMDM|ST. HELENA DYSPLASIA Musculoskeletal disease Acromicric dysplasia MESH:C535662 DO:DOID:0111243|OMIM:102370|OMIM:231050|OMIM:614185 MESH:D001848|MESH:D017880 C05.116.099/C535662|C05.660.585/C535662|C16.131.621.585/C535662 C05.116.099|C05.660.585|C16.131.621.585 ACMICD|Acromicria|Acromicric skeletal dysplasia|Geleophysic dwarfism|Geleophysic dysplasia|GELEOPHYSIC DYSPLASIA 1|GELEOPHYSIC DYSPLASIA 2|GPHYSD1|GPHYSD2 Congenital abnormality|Musculoskeletal disease Acro-Osteolysis MESH:D030981 DO:DOID:2736 A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME. MESH:D001848|MESH:D010014 C05.116.099.052|C05.116.264.579.052 C05.116.099|C05.116.264.579 Acroosteolysis|Acro Osteolysis|Acroosteolysis Syndrome|Acro-Osteolysis Syndrome|Acro-Osteolysis Syndromes Musculoskeletal disease Acroosteolysis dominant type MESH:C535663 MESH:D030981 C05.116.099.052/C535663|C05.116.264.579.052/C535663 C05.116.099.052|C05.116.264.579.052 Musculoskeletal disease Acrootoocular Syndrome MESH:C564866 MESH:D005532|MESH:D006228|MESH:D006319|MESH:D006972|MESH:D015785|MESH:D016569 C05.116.099.370.231.480/C564866|C05.330.495/C564866|C05.390.408/C564866|C05.660.207.231.480/C564866|C05.660.585.512.380/C564866|C05.660.585.988.425/C564866|C09.218.458.341.887/C564866|C10.597.751.418.341.887/C564866|C11.250.090/C564866|C11.270/C564866|C11.338.190/C564866|C16.131.384.190/C564866|C16.131.621.207.231.480/C564866|C16.131.621.585.512.500/C564866|C16.131.621.585.988.500/C564866|C16.320.290/C564866|C23.888.592.763.393.341.887/C564866 C05.116.099.370.231.480|C05.330.495|C05.390.408|C05.660.207.231.480|C05.660.585.512.380|C05.660.585.988.425|C09.218.458.341.887|C10.597.751.418.341.887|C11.250.090|C11.270|C11.338.190|C16.131.384.190|C16.131.621.207.231.480|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.320.290|C23.888.592.763.393.341.887 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Acropectoral syndrome MESH:C535664 OMIM:605967 MESH:D017880 C05.660.585/C535664|C16.131.621.585/C535664 C05.660.585|C16.131.621.585 ACRPS|ACRP SYNDROME|DUNDAR ACROPECTORAL SYNDROME|Syndactyly, preaxial polydactyly, and sternal deformity Congenital abnormality|Musculoskeletal disease ACROPECTOROVERTEBRAL DYSPLASIA OMIM:102510 MESH:D009139 C05.660/102510|C16.131.621/102510 C05.660|C16.131.621 ACRPV|F SYNDROME Congenital abnormality|Musculoskeletal disease Acropectorovertebral Dysplasia, F-Form MESH:C566319 MESH:D010009|MESH:D017880 C05.116.099.708/C566319|C05.660.585/C566319|C16.131.621.585/C566319|C16.320.728/C566319 C05.116.099.708|C05.660.585|C16.131.621.585|C16.320.728 ACRPV Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Acrophobia MESH:C000719188 MESH:D010698 F03.080.725/C000719188 F03.080.725 Fear of heights|Phobia, heights Mental disorder Acrorenal mandibular syndrome MESH:C535665 MESH:D004065|MESH:D007569 C05.500.460/C535665|C05.660.207.540.460/C535665|C06.198/C535665|C07.320.440/C535665|C07.650.500.460/C535665|C16.131.314/C535665|C16.131.621.207.540.460/C535665|C16.131.850.500.460/C535665 C05.500.460|C05.660.207.540.460|C06.198|C07.320.440|C07.650.500.460|C16.131.314|C16.131.621.207.540.460|C16.131.850.500.460 Acrorenal-Mandibular Syndrome|Acro-renal-uterine-mandibular syndrome|Acrorenal-Uterine-Mandibular Syndrome|Split hand and split foot with mandibular hypoplasia|Split-Hand And Split-Foot With Mandibular Hypoplasia Congenital abnormality|Digestive system disease|Mouth disease|Musculoskeletal disease Acrorenal Syndrome MESH:C563159 DO:DOID:0060347 MESH:D006228 C05.390.408/C563159|C05.660.585.988.425/C563159|C16.131.621.585.988.500/C563159 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Congenital abnormality|Musculoskeletal disease Acrorenal syndrome recessive MESH:C535666 MESH:D004065|MESH:D017880 C05.660.585/C535666|C06.198/C535666|C16.131.314/C535666|C16.131.621.585/C535666 C05.660.585|C06.198|C16.131.314|C16.131.621.585 Acrorenal syndrome autosomal recessive|Acrorenal Syndrome, Autosomal Recessive|Curran syndrome Congenital abnormality|Digestive system disease|Musculoskeletal disease Acrospiroma MESH:D018250 DO:DOID:5442 A rare cutaneous tumor of apocrine or eccrine SWEAT GLAND origin. It is most commonly found on the extremities and is usually benign. It appears as a solitary nodule or cyst and may be solid or produce a watery discharge. It is related to POROMA except in acrospiroma it does not involve the epidermis. There is no indication that heredity or external agents cause these tumors. MESH:D006607 C04.557.470.035.175.125|C04.557.470.550.175.125 C04.557.470.035.175|C04.557.470.550.175 Acrospiroma, Eccrine|Acrospiromas|Clear Cell Hidradrenoma|Clear-Cell Hidradrenoma|Clear-Cell Hidradrenomas|Cystic Hidradenoma|Cystic Hidradenomas|Eccrine Acrospiroma|Eccrine Acrospiromas|Eccrine Spiradenoma|Eccrine Spiradenomas|Hidradenoma|Hidradenoma, Cystic|Hidradenomas|Hidradenoma, Solid-Cystic|Hidradrenoma, Clear-Cell|Hidradrenoma, Nodular|Hidradrenomas, Nodular|Nodular Hidradrenoma|Nodular Hidradrenomas|Solid Cystic Hidradenoma|Solid-Cystic Hidradenoma|Solid-Cystic Hidradenomas|Spiradenoma|Spiradenoma, Eccrine|Spiradenomas|Spiradenomas, Eccrine Cancer ACTH Deficiency, Isolated MESH:C562707 OMIM:201400 MESH:D004700|MESH:D007003|MESH:D030342 C16.320/C562707|C18.452.394.984/C562707|C19/C562707 C16.320|C18.452.394.984|C19 ADRENOCORTICOTROPIC HORMONE DEFICIENCY|IAD Endocrine system disease|Genetic disease (inborn)|Metabolic disease Acth-Independent Macronodular Adrenal Hyperplasia MESH:C565662 OMIM:219080|OMIM:615954 MESH:D003480 C19.053.800.367/C565662 C19.053.800.367 Acth-Independent Cushing Syndrome|ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2|Acth-Independent Macronodular Adrenocortical Hyperplasia|Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia|Aimah|AIMAH1|AIMAH2|Corticotropin-Independent Macronodular Adrenal Hyperplasia|Cushing Syndrome, Adrenal, Due To Aimah|PRIMARY MACRONODULAR ADRENAL HYPERPLASIA Endocrine system disease ACTH-Secreting Pituitary Adenoma MESH:D049913 DO:DOID:7004|OMIM:219090 A pituitary adenoma which secretes ADRENOCORTICOTROPIN, leading to CUSHING DISEASE. MESH:D000236|MESH:D010911 C04.557.470.035.012|C04.588.322.609.145|C10.228.140.617.738.675.149|C19.344.609.145|C19.700.734.145 C04.557.470.035|C04.588.322.609|C10.228.140.617.738.675|C19.344.609|C19.700.734 ACTH Producing Pituitary Adenoma|ACTH-Producing Pituitary Adenoma|ACTH-Producing Pituitary Adenomas|ACTH Secreting Pituitary Adenoma|ACTH-Secreting Pituitary Adenomas|Adenoma, Corticotroph|Adenomas, Corticotroph|Corticotroph Adenoma|Corticotroph Adenomas|Corticotropin-Secreting Adenoma, Pituitary|Corticotropin-Secreting Adenomas, Pituitary|CUSHING DISEASE, PITUITARY|PITA4|PITUITARY ADENOMA 4, ACTH-SECRETING|Pituitary Adenoma, ACTH-Producing|Pituitary Adenoma, ACTH Secreting|Pituitary Adenoma, ACTH-Secreting|Pituitary Adenomas, ACTH-Producing|Pituitary Adenomas, ACTH-Secreting|Pituitary Corticotropin Secreting Adenoma|Pituitary Corticotropin-Secreting Adenoma|Pituitary Corticotropin-Secreting Adenomas Cancer|Endocrine system disease|Nervous system disease ACTH Syndrome, Ectopic MESH:D000182 Symptom complex due to ACTH production by non-pituitary neoplasms. MESH:D009384 C04.730.713.317 C04.730.713 ACTH Syndromes, Ectopic|Ectopic ACTH Syndrome|Ectopic ACTH Syndromes|Syndrome, Ectopic ACTH|Syndromes, Ectopic ACTH Cancer Actin-Accumulation Myopathy MESH:C579880 MESH:D020914 C05.651.575/C579880|C10.668.491.550/C579880 C05.651.575|C10.668.491.550 Actin Filament Aggregate Myopathy|Actin Myopathy|Congenital Myopathy with Excess of Thin Filaments|Myopathy, Actin, Congenital, With Cores|Nemaline myopathy 3|Nemaline Myopathy 3, With Intranuclear Rods|Nemaline myopathy caused by mutation in the alpha-actin gene Musculoskeletal disease|Nervous system disease Actinic cheilitis MESH:C535669 MESH:D002613 C07.465.409.215/C535669 C07.465.409.215 Actinic cheilosis Mouth disease Actinic Prurigo MESH:C566780 MESH:D010787|MESH:D012873 C16.320.850/C566780|C17.800.600/C566780|C17.800.827/C566780 C16.320.850|C17.800.600|C17.800.827 Polymorphic Light Eruption, Hereditary Genetic disease (inborn)|Skin disease Actinobacillosis MESH:D000187 DO:DOID:4974 A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs. MESH:D000189|MESH:D000820 C01.150.252.400.700.030.178|C22.039 C01.150.252.400.700.030|C22 Actinobacilloses Animal disease|Bacterial infection or mycosis Actinobacillus Infections MESH:D000189 Infections with bacteria of the genus ACTINOBACILLUS. MESH:D016871 C01.150.252.400.700.030 C01.150.252.400.700 Actinobacillus Infection|Infection, Actinobacillus|Infections, Actinobacillus Bacterial infection or mycosis Actinomycetales Infections MESH:D000193 Infections with bacteria of the order ACTINOMYCETALES. MESH:D016908 C01.150.252.410.040 C01.150.252.410 Actinomycetales Infection|Actinomycete Infection|Actinomycete Infections|Infection, Actinomycetales|Infection, Actinomycete|Infections, Actinomycetales|Infections, Actinomycete Bacterial infection or mycosis Actinomycosis MESH:D000196 DO:DOID:8478 Infections with bacteria of the genus ACTINOMYCES. MESH:D000193 C01.150.252.410.040.137 C01.150.252.410.040 Actinomyces Infection|Actinomyces Infections|Actinomycoses|Infection, Actinomyces|Infections, Actinomyces Bacterial infection or mycosis Actinomycosis, Cervicofacial MESH:D000197 A form of ACTINOMYCOSIS characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses. MESH:D000196|MESH:D017192 C01.150.252.410.040.137.316|C01.150.252.819.110|C01.800.720.110|C17.800.838.765.110 C01.150.252.410.040.137|C01.150.252.819|C01.800.720|C17.800.838.765 Bacterial infection or mycosis|Skin disease Activated PI3K-delta Syndrome MESH:C585640 DO:DOID:0111936 MESH:D000081207 C16.320.798/C585640|C20.673.795/C585640 C16.320.798|C20.673.795 APDS (Activated PI3K-delta Syndrome)|APD Syndrome Genetic disease (inborn)|Immune system disease Activated Protein C Resistance MESH:D020016 A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance. MESH:D019851|MESH:D020147|MESH:D025861 C15.378.100.100.037|C15.378.100.141.036|C15.378.925.050|C16.320.099.037 C15.378.100.100|C15.378.100.141|C15.378.925|C16.320.099 APC Resistance|Resistance, APC Blood disease|Genetic disease (inborn) Acute Aortic Syndrome MESH:D000094683 A group of aortic diseases presented with acute chest pain. It commonly includes AORTIC DISSECTION; AORTIC INTRAMURAL HEMATOMA; PENETRATING ATHEROSCLEROTIC ULCER and sometimes aortic aneurysms. MESH:D001018 C14.907.109.070 C14.907.109 Acute Aortic Syndromes|Aortic Syndrome, Acute|Aortic Syndromes, Acute Cardiovascular disease Acute brachial neuritis MESH:C538620 MESH:D020968 C10.668.829.100.500/C538620|C10.668.829.650.250/C538620 C10.668.829.100.500|C10.668.829.650.250 Acute brachial neuritis syndrome|Acute brachial radiculitis syndrome|Acute shoulder neuritis Nervous system disease Acute cerebral Gaucher disease MESH:C531689 MESH:D005776 C10.228.140.163.100.435.825.400/C531689|C16.320.565.189.435.825.400/C531689|C16.320.565.398.641.803.441/C531689|C16.320.565.595.554.825.400/C531689|C18.452.132.100.435.825.400/C531689|C18.452.584.563.641.803.441/C531689|C18.452.648.189.435.825.400/C531689|C18.452.648.398.641.803.441/C531689|C18.452.648.595.554.825.400/C531689 C10.228.140.163.100.435.825.400|C16.320.565.189.435.825.400|C16.320.565.398.641.803.441|C16.320.565.595.554.825.400|C18.452.132.100.435.825.400|C18.452.584.563.641.803.441|C18.452.648.189.435.825.400|C18.452.648.398.641.803.441|C18.452.648.595.554.825.400 Genetic disease (inborn)|Metabolic disease|Nervous system disease Acute Chest Syndrome MESH:D056586 DO:DOID:1584 Respiratory syndrome characterized by the appearance of a new pulmonary infiltrate on chest x-ray, accompanied by symptoms of fever, cough, chest pain, tachypnea, or DYSPNEA, often seen in patients with SICKLE CELL ANEMIA. Multiple factors (e.g., infection, and pulmonary FAT EMBOLISM) may contribute to the development of the syndrome. MESH:D000755|MESH:D008171|MESH:D012120 C08.381.074|C08.618.009|C15.378.071.141.150.150.219|C15.378.420.155.219|C16.320.070.150.219|C16.320.365.155.219 C08.381|C08.618|C15.378.071.141.150.150|C15.378.420.155|C16.320.070.150|C16.320.365.155 Acute Chest Syndromes|Syndrome, Acute Chest|Syndromes, Acute Chest Blood disease|Genetic disease (inborn)|Respiratory tract disease Acute cholinergic dysautonomia MESH:C535672 MESH:D054969 C10.177.575/C535672 C10.177.575 Nervous system disease Acute Coronary Syndrome MESH:D054058 An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION. MESH:D017202 C14.280.647.124|C14.907.585.124 C14.280.647|C14.907.585 Acute Coronary Syndromes|Coronary Syndrome, Acute|Coronary Syndromes, Acute|Syndrome, Acute Coronary|Syndromes, Acute Coronary Cardiovascular disease Acute Disease MESH:D000208 Disease having a short and relatively severe course. MESH:D020969 C23.550.291.125 C23.550.291 Acute Diseases|Disease, Acute|Diseases, Acute Pathology (process) Acute erythroleukemia MESH:C535673 MESH:D004915 C04.557.337.539.275.325/C535673|C15.378.190.636.276/C535673 C04.557.337.539.275.325|C15.378.190.636.276 Acute erythroleukemia - M6a subtype|Acute erythroleukemia - M6b subtype|Acute myeloid leukemia FAB-M6|AML-M6 Acute myeloid leukemia M6 Blood disease|Cancer Acute fatty liver of pregnancy MESH:C537957 MESH:D005234|MESH:D011248 C06.552.241/C537957|C12.050.703/C537957 C06.552.241|C12.050.703 Acute fatty liver, gestational Digestive system disease|Pregnancy complication Acute Febrile Encephalopathy MESH:D000071072 Acute onset of fever accompanied by seizures, cerebral inflammation and a change in mental status (e.g., confusion, disorientation, and coma). MESH:D001927 C10.228.140.021 C10.228.140 Acute Encephalitis Syndrome|Acute Encephalitis Syndromes|Acute Febrile Encephalopathies|Encephalopathies, Acute Febrile|Encephalopathies, Febrile|Encephalopathy, Acute Febrile|Encephalopathy, Febrile|Febrile Encephalopathies|Febrile Encephalopathies, Acute|Febrile Encephalopathy Nervous system disease acute flaccid myelitis MESH:C000629404 DO:DOID:0080947 MESH:D009187|MESH:D009468|MESH:D020805 C01.207.245/C000629404|C01.207.618/C000629404|C01.925.182/C000629404|C10.228.228.245/C000629404|C10.228.228.618/C000629404|C10.228.854.525/C000629404|C10.586.750/C000629404|C10.668/C000629404 C01.207.245|C01.207.618|C01.925.182|C10.228.228.245|C10.228.228.618|C10.228.854.525|C10.586.750|C10.668 acute flaccid paralysis|AFM syndrome Nervous system disease|Viral disease Acute Generalized Exanthematous Pustulosis MESH:D056150 Rare skin eruption characterized by acute formation of pustules filled with NEUTROPHILS, fever, and peripheral blood LEUKOCYTOSIS. Most cases are associated with the use of antibiotics (e.g., BETA-LACTAMS). MESH:D003875|MESH:D006968 C17.800.174.600.174|C20.543.418.075|C25.100.468.380.174 C17.800.174.600|C20.543.418|C25.100.468.380 Acute Generalised Exanthematous Pustulosis|Acute Localized Exanthematous Pustulosis|Pustulosis, Exanthematous, Acute Generalized|Pustulosis, Exanthematous, Acute Localized Immune system disease|Skin disease Acute Kidney Injury MESH:D058186 DO:DOID:3021 Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions. MESH:D051437 C12.050.351.968.419.780.050|C12.200.777.419.780.050|C12.950.419.780.050 C12.050.351.968.419.780|C12.200.777.419.780|C12.950.419.780 Acute Kidney Failure|Acute Kidney Failures|Acute Kidney Injuries|Acute Kidney Insufficiencies|Acute Kidney Insufficiency|Acute Renal Failure|Acute Renal Failures|Acute Renal Injuries|Acute Renal Injury|Acute Renal Insufficiencies|Acute Renal Insufficiency|Kidney Failure, Acute|Kidney Failures, Acute|Kidney Injuries, Acute|Kidney Injury, Acute|Kidney Insufficiencies, Acute|Kidney Insufficiency, Acute|Renal Failure, Acute|Renal Failures, Acute|Renal Injuries, Acute|Renal Injury, Acute|Renal Insufficiencies, Acute|Renal Insufficiency, Acute Urogenital disease (female)|Urogenital disease (male) Acute Lung Injury MESH:D055371 A condition of lung damage that is characterized by bilateral pulmonary infiltrates (PULMONARY EDEMA) rich in NEUTROPHILS, and in the absence of clinical HEART FAILURE. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological). MESH:D055370 C08.381.520.500 C08.381.520 Acute Lung Injuries|Lung Injuries, Acute|Lung Injury, Acute Respiratory tract disease Acute malaria MESH:C531736 MESH:D008288 C01.610.752.530/C531736|C01.920.875/C531736 C01.610.752.530|C01.920.875 Chronic malaria Parasitic disease Acute-On-Chronic Liver Failure MESH:D065290 Sudden liver failure in the presence of underlying compensated chronic LIVER DISEASE (e.g., LIVER CIRRHOSIS; HEPATITIS; and liver injury and failure) due to a precipitating acute hepatic insult. MESH:D017114 C06.552.308.500.750.249 C06.552.308.500.750 Acute On Chronic Liver Failure|Acute On Chronic Liver Failure (ACLF)|Acute-On-Chronic Liver Failure (ACLF)|Acute-On-Chronic Liver Failures|Acute-On-Chronic Liver Failures (ACLF)|Failure, Acute-On-Chronic Liver|Failure, Acute-On-Chronic Liver (ACLF)|Failures, Acute-On-Chronic Liver|Failures, Acute-On-Chronic Liver (ACLF)|Liver Failure, Acute On Chronic|Liver Failure, Acute-On-Chronic|Liver Failure, Acute-On-Chronic (ACLF)|Liver Failures, Acute-On-Chronic|Liver Failures, Acute-On-Chronic (ACLF) Digestive system disease Acute Pain MESH:D059787 Intensely discomforting, distressful, or agonizing sensation associated with trauma or disease, with well-defined location, character, and timing. MESH:D010146 C23.888.592.612.081 C23.888.592.612 Acute Pains|Pain, Acute|Pains, Acute Signs and symptoms Acute-Phase Reaction MESH:D000210 An early local inflammatory reaction to insult or injury that consists of fever, an increase in inflammatory humoral factors, and an increased synthesis by hepatocytes of a number of proteins or glycoproteins usually found in the plasma. MESH:D007249 C23.550.470.099 C23.550.470 Acute Phase Reaction|Acute Phase Response|Acute-Phase Response|Acute Phase Responses|Acute Phase State|Acute-Phase State|Phase Response, Acute|Reaction, Acute Phase|Reaction, Acute-Phase|Response, Acute Phase|Response, Acute-Phase|State, Acute-Phase Pathology (process) Acute Radiation Syndrome MESH:D054508 A condition caused by a brief whole body exposure to more than one sievert dose equivalent of radiation. Acute radiation syndrome is initially characterized by ANOREXIA; NAUSEA; VOMITING; but can progress to hematological, gastrointestinal, neurological, pulmonary, and other major organ dysfunction. MESH:D011832 C26.733.188 C26.733 Acute Radiation Syndromes|Radiation Syndrome, Acute|Radiation Syndromes, Acute Wounds and injuries Acute Retroviral Syndrome MESH:D000071297 Early stage of HIV infection. Symptoms resemble INFLUENZA or INFECTIOUS MONONUCLEOSIS. MESH:D015658 C01.221.250.875.044|C01.221.812.640.400.044|C01.778.640.400.044|C01.925.782.815.616.400.044|C01.925.813.400.044|C12.100.937.640.400.044|C20.673.480.044 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C12.100.937.640.400|C20.673.480 Retroviral Syndrome, Acute Immune system disease|Viral disease Acute rheumatism MESH:C538407 MESH:D012216 C05.799/C538407|C17.300.775/C538407 C05.799|C17.300.775 Connective tissue disease|Musculoskeletal disease Acute Tubulointerstitial Nephritis MESH:C564356 MESH:D009395 C12.050.351.968.419.570.643/C564356|C12.200.777.419.570.643/C564356|C12.950.419.570.643/C564356 C12.050.351.968.419.570.643|C12.200.777.419.570.643|C12.950.419.570.643 Urogenital disease (female)|Urogenital disease (male) Acute zonal occult outer retinopathy MESH:C538223 MESH:D000080363|MESH:D012607 C10.597.751.941.811/C538223|C11.941.879.780.900.650/C538223|C11.966.811/C538223|C23.888.592.763.941.811/C538223 C10.597.751.941.811|C11.941.879.780.900.650|C11.966.811|C23.888.592.763.941.811 Eye disease|Nervous system disease|Signs and symptoms Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of MESH:C567006 DO:DOID:0112072|OMIM:611126 MESH:D000138|MESH:D000592|MESH:D002312|MESH:D018908|MESH:D028361 C05.651.515/C567006|C10.597.613.593/C567006|C14.280.238.100/C567006|C14.280.484.048.750.070.160/C567006|C16.320.565.100/C567006|C18.452.076.176/C567006|C18.452.648.100/C567006|C18.452.660/C567006|C23.550.695/C567006|C23.888.592.608.593/C567006 C05.651.515|C10.597.613.593|C14.280.238.100|C14.280.484.048.750.070.160|C16.320.565.100|C18.452.076.176|C18.452.648.100|C18.452.660|C23.550.695|C23.888.592.608.593 ACAD9 DEFICIENCY|ACYL-CoA DEHYDROGENASE 9 DEFICIENCY|MC1DN20|MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Adactylia, Unilateral MESH:C562417 MESH:D006228 C05.390.408/C562417|C05.660.585.988.425/C562417|C16.131.621.585.988.500/C562417 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Terminal Transverse Defects of Hand, Unilateral Congenital abnormality|Musculoskeletal disease Adamantinoma MESH:D050398 DO:DOID:2775|DO:DOID:2776 A locally aggressive, osteolytic neoplasm of the long bones, probably of epithelial origin and most often involving the TIBIA. MESH:D001859 C04.588.149.030|C05.116.231.030 C04.588.149|C05.116.231 Adamantinoma of Long Bones|Adamantinomas|Long Bones Adamantinoma|Long Bones Adamantinomas Cancer|Musculoskeletal disease Adams Nance syndrome MESH:C538224 MESH:D000592|MESH:D002386|MESH:D006973|MESH:D008850|MESH:D012640|MESH:D013614 C10.597.742/C538224|C11.250.566/C538224|C11.510.245/C538224|C14.280.067.845.695/C538224|C14.280.123.875.695/C538224|C14.907.489/C538224|C16.131.384.666/C538224|C16.320.565.100/C538224|C18.452.648.100/C538224|C23.550.073.845.695/C538224|C23.888.592.742/C538224 C10.597.742|C11.250.566|C11.510.245|C14.280.067.845.695|C14.280.123.875.695|C14.907.489|C16.131.384.666|C16.320.565.100|C18.452.648.100|C23.550.073.845.695|C23.888.592.742 Tachycardia hypertension microphthalmos hyperglycinuria Cardiovascular disease|Congenital abnormality|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms Adams Oliver syndrome MESH:C538225 OMIM:100300|OMIM:614219|OMIM:614814|OMIM:615297|OMIM:616028|OMIM:616589 MESH:D004476|MESH:D012536|MESH:D017880 C05.660.585/C538225|C16.131.077.350/C538225|C16.131.621.585/C538225|C16.131.831.350/C538225|C16.320.850.250/C538225|C17.800.738/C538225|C17.800.804.350/C538225|C17.800.827.250/C538225 C05.660.585|C16.131.077.350|C16.131.621.585|C16.131.831.350|C16.320.850.250|C17.800.738|C17.800.804.350|C17.800.827.250 Absence defect of limbs, scalp, and skull|Adams-Oliver syndrome|Adams-Oliver syndrome 1|ADAMS-OLIVER SYNDROME 2|ADAMS-OLIVER SYNDROME 3|ADAMS-OLIVER SYNDROME 4|ADAMS-OLIVER SYNDROME 5|ADAMS-OLIVER SYNDROME 6|AOS|AOS1|AOS2|AOS3|AOS4|AOS5|AOS6|Aplasia Cutis Congenita With Terminal Transverse Limb Defects|APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED|Aplasia cutis of the scalp|Congenital defect of skull and scalp|Congenital Scalp Defects With Distal Limb Reduction Anomalies|Familial aplasia cutis congenita of the scalp|Scalp and head syndrome|Scalp defect, congenital|Scalp defects with ectrodactyly Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Adams-Stokes Syndrome MESH:D000219 A condition of fainting spells caused by heart block, often an atrioventricular block, that leads to BRADYCARDIA and drop in CARDIAC OUTPUT. When the cardiac output becomes too low, the patient faints (SYNCOPE). In some cases, the syncope attacks are transient and in others cases repetitive and persistent. MESH:D006327 C14.280.067.558.137|C14.280.123.500.137|C23.550.073.425.025 C14.280.067.558|C14.280.123.500|C23.550.073.425 Adams Stokes Syndrome|Adam Stokes Attacks|Adam-Stokes Attacks|Attacks, Adam-Stokes|Attacks, Stokes-Adams|Stokes Adams Attacks|Stokes-Adams Attacks|Stokes Adams Syndrome|Stokes-Adams Syndrome|Syndrome, Adams-Stokes|Syndrome, Stokes-Adams Cardiovascular disease|Pathology (process) Addison Disease MESH:D000224 DO:DOID:13774 An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES. MESH:D000309|MESH:D001327 C19.053.500.263|C20.111.163 C19.053.500|C20.111 Addison's Disease|Addisons Disease|Adrenal Insufficiency, Primary|Adrenocortical Insufficiencies, Primary|Adrenocortical Insufficiency, Primary|Disease, Addison|Hypoadrenalism, Primary|Hypoadrenalisms, Primary|Insufficiencies, Primary Adrenocortical|Insufficiency, Primary Adrenocortical|Primary Adrenal Insufficiency|Primary Adrenocortical Insufficiencies|Primary Adrenocortical Insufficiency|Primary Hypoadrenalism Endocrine system disease|Immune system disease Adducted Thumbs Syndrome MESH:C562949 MESH:D000015 C16.131.077/C562949 C16.131.077 Thumbs, Congenital Clasped Congenital abnormality Adenine Nucleotide Translocator Deficiency MESH:C566309 MESH:D009886 C10.292.562.750/C566309|C10.597.622.447/C566309|C11.590.472/C566309|C23.888.592.636.447/C566309 C10.292.562.750|C10.597.622.447|C11.590.472|C23.888.592.636.447 Eye disease|Nervous system disease|Signs and symptoms Adenine phosphoribosyltransferase deficiency MESH:C538228 DO:DOID:0060350|OMIM:614723 MESH:D008661|MESH:D052878 C12.050.351.968.967/C538228|C12.200.777.967/C538228|C12.950.967/C538228|C16.320.565/C538228|C18.452.648/C538228 C12.050.351.968.967|C12.200.777.967|C12.950.967|C16.320.565|C18.452.648 2,8-Dihydroxyadenine Urolithiasis|2,8-Dihydroxyadeninuria|APRTD|APRT Deficiency|DHA Crystalline Nephropathy|NEPHROLITHIASIS, DHA|Urolithiasis, 2,8-Dihydroxyadenine|UROLITHIASIS, DHA Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Adenoameloblastoma MESH:C538229 MESH:D000564 C04.557.695.065/C538229 C04.557.695.065 Adenomatoid ameloblastoma|Adenomatoid odontogenic tumor|Pleomorphic adenomatoid tumor Cancer Adenocarcinoid tumor MESH:C538230 MESH:D000230 C04.557.470.200.025/C538230 C04.557.470.200.025 Cancer Adenocarcinoma MESH:D000230 DO:DOID:299|DO:DOID:4903|DO:DOID:4929|DO:DOID:5675 A malignant epithelial tumor with a glandular organization. MESH:D002277 C04.557.470.200.025 C04.557.470.200 Adenocarcinoma, Basal Cell|Adenocarcinoma, Granular Cell|Adenocarcinoma, Oxyphilic|Adenocarcinomas|Adenocarcinomas, Basal Cell|Adenocarcinomas, Granular Cell|Adenocarcinomas, Oxyphilic|Adenocarcinomas, Tubular|Adenocarcinoma, Tubular|Adenoma, Malignant|Adenomas, Malignant|Basal Cell Adenocarcinoma|Basal Cell Adenocarcinomas|Carcinoma, Cribriform|Carcinoma, Granular Cell|Carcinomas, Cribriform|Carcinomas, Granular Cell|Carcinomas, Tubular|Carcinoma, Tubular|Cribriform Carcinoma|Cribriform Carcinomas|Granular Cell Adenocarcinoma|Granular Cell Adenocarcinomas|Granular Cell Carcinoma|Granular Cell Carcinomas|Malignant Adenoma|Malignant Adenomas|Oxyphilic Adenocarcinoma|Oxyphilic Adenocarcinomas|Tubular Adenocarcinoma|Tubular Adenocarcinomas|Tubular Carcinoma|Tubular Carcinomas Cancer Adenocarcinoma, Bronchiolo-Alveolar MESH:D002282 DO:DOID:4926 A carcinoma derived from epithelium of terminal bronchioles, in which the neoplastic tissue extends along the alveolar walls and grows in small masses within the alveoli. Involvement may be uniformly diffuse and massive, or nodular, or lobular. The neoplastic cells are cuboidal or columnar and form papillary structures. Mucin may be demonstrated in some of the cells and in the material in the alveoli, which also includes denuded cells. Metastases in regional lymph nodes, and in even more distant sites, are known to occur, but are infrequent. (From Stedman, 25th ed) MESH:D000077192 C04.557.470.200.025.022.500|C04.588.894.797.520.055.500 C04.557.470.200.025.022|C04.588.894.797.520.055 Adenocarcinoma, Alveolar|Adenocarcinoma, Bronchiolo Alveolar|Adenocarcinomas, Alveolar|Adenocarcinomas, Bronchiolo-Alveolar|Alveolar Adenocarcinoma|Alveolar Adenocarcinomas|Alveolar Carcinoma|Alveolar Carcinomas|Alveolar Cell Carcinoma|Alveolar Cell Carcinomas|Bronchiolar Carcinoma|Bronchiolar Carcinomas|Bronchiolo-Alveolar Adenocarcinoma|Bronchiolo-Alveolar Adenocarcinomas|Bronchioloalveolar Carcinoma|Bronchiolo-Alveolar Carcinoma|Bronchioloalveolar Carcinomas|Bronchiolo-Alveolar Carcinomas|Carcinoma, Alveolar|Carcinoma, Alveolar Cell|Carcinoma, Bronchiolar|Carcinoma, Bronchioloalveolar|Carcinoma, Bronchiolo Alveolar|Carcinoma, Bronchiolo-Alveolar|Carcinomas, Alveolar|Carcinomas, Alveolar Cell|Carcinomas, Bronchiolar|Carcinomas, Bronchioloalveolar|Carcinomas, Bronchiolo-Alveolar Cancer Adenocarcinoma, Clear Cell MESH:D018262 DO:DOID:4468 An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed) MESH:D000230 C04.557.470.200.025.045 C04.557.470.200.025 Adenocarcinomas, Clear Cell|Clear Cell Adenocarcinoma|Clear Cell Adenocarcinomas Cancer Adenocarcinoma, Follicular MESH:D018263 DO:DOID:3962 An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed) MESH:D000230 C04.557.470.200.025.060 C04.557.470.200.025 Adenocarcinomas, Follicular|Carcinoma, Follicular Thyroid|Carcinomas, Follicular Thyroid|Follicular Adenocarcinoma|Follicular Adenocarcinomas|Follicular Thyroid Carcinoma|Follicular Thyroid Carcinomas|Thyroid Carcinoma, Follicular|Thyroid Carcinomas, Follicular Cancer Adenocarcinoma in Situ MESH:D065311 DO:DOID:4943 A lesion with cytological characteristics associated with invasive adenocarcinoma but the tumor cells are confined to the GLANDULAR EPITHELIAL CELLS of origin. Adenocarcinoma in situ of the CERVIX and the LUNG are the most common. MESH:D000230|MESH:D002278|MESH:D065308 C04.557.470.200.025.014|C04.557.470.200.240.124|C23.149.249 C04.557.470.200.025|C04.557.470.200.240|C23.149 Adenocarcinoma in Situs|Adenocarcinoma, Intraepithelial|Adenocarcinoma, Preinvasive|Adenocarcinomas, Intraepithelial|Adenocarcinomas, Preinvasive|in Situ, Adenocarcinoma|Intraepithelial Adenocarcinoma|Intraepithelial Adenocarcinomas|Preinvasive Adenocarcinoma|Preinvasive Adenocarcinomas|Situ, Adenocarcinoma in Cancer Adenocarcinoma, Mucinous MESH:D002288 DO:DOID:3030 An adenocarcinoma producing mucin in significant amounts. (From Dorland, 27th ed) MESH:D000230|MESH:D018297 C04.557.470.200.025.075|C04.557.470.590.075 C04.557.470.200.025|C04.557.470.590 Adenocarcinomas, Mucinous|Carcinoma, Colloid|Carcinoma, Mucinous|Carcinomas, Colloid|Carcinomas, Mucinous|Colloid Carcinoma|Colloid Carcinomas|Mucinous Adenocarcinoma|Mucinous Adenocarcinomas|Mucinous Carcinoma|Mucinous Carcinomas Cancer Adenocarcinoma Of Esophagus MESH:C562730 DO:DOID:4914 MESH:D000230|MESH:D004938 C04.557.470.200.025/C562730|C04.588.274.476.205/C562730|C04.588.443.353/C562730|C06.301.371.205/C562730|C06.405.117.430/C562730|C06.405.249.205/C562730 C04.557.470.200.025|C04.588.274.476.205|C04.588.443.353|C06.301.371.205|C06.405.117.430|C06.405.249.205 Cancer|Digestive system disease Adenocarcinoma of Lung MESH:D000077192 DO:DOID:3910 A carcinoma originating in the lung and the most common lung cancer type in never-smokers. Malignant cells exhibit distinct features such as glandular epithelial, or tubular morphology. Mutations in KRAS, EGFR, BRAF, and ERBB2 genes are associated with this cancer. MESH:D000230|MESH:D008175 C04.557.470.200.025.022|C04.588.894.797.520.055 C04.557.470.200.025|C04.588.894.797.520 Adenocarcinoma, Lung|Adenocarcinomas, Lung|Lung Adenocarcinoma|Lung Adenocarcinomas Cancer Adenocarcinoma, Papillary MESH:D000231 DO:DOID:3112 An adenocarcinoma containing finger-like processes of vascular connective tissue covered by neoplastic epithelium, projecting into cysts or the cavity of glands or follicles. It occurs most frequently in the ovary and thyroid gland. (Stedman, 25th ed) MESH:D000230 C04.557.470.200.025.085 C04.557.470.200.025 Adenocarcinomas, Papillary|Papillary Adenocarcinoma|Papillary Adenocarcinomas Cancer Adenocarcinoma, Scirrhous MESH:D002293 DO:DOID:4024 An adenocarcinoma with a hard (Greek skirrhos, hard) structure owing to the formation of dense connective tissue in the stroma. (From Dorland, 27th ed) MESH:D000230 C04.557.470.200.025.095 C04.557.470.200.025 Adenocarcinomas, Scirrhous|Carcinoma, Scirrhous|Carcinomas, Scirrhous|Scirrhous Adenocarcinoma|Scirrhous Adenocarcinomas|Scirrhous Carcinoma|Scirrhous Carcinomas Cancer Adenocarcinoma, Sebaceous MESH:D018266 DO:DOID:4839 A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4) MESH:D000230|MESH:D018294 C04.557.470.200.025.105|C04.557.470.550.105 C04.557.470.200.025|C04.557.470.550 Adenocarcinomas, Sebaceous|Sebaceous Adenocarcinoma|Sebaceous Adenocarcinomas Cancer Adenofibroma MESH:D000232 DO:DOID:2683 A benign neoplasm composed of glandular and fibrous tissues, with a relatively large proportion of glands. (Stedman, 25th ed) MESH:D018225 C04.557.450.565.590.595.050|C04.557.470.625.050 C04.557.450.565.590.595|C04.557.470.625 Adenofibromas|Fibroadenosis Cancer Adenolymphoma MESH:D000235 A benign tumor characterized histologically by tall columnar epithelium within a lymphoid tissue stroma. It is usually found in the salivary glands, especially the parotid. MESH:D018193 C04.557.435.075 C04.557.435 Adenolymphomas|Cystadenoma Lymphomatosum, Papillary|Papillary Cystadenoma Lymphomatosum|Tumor, Warthin|Warthin Tumor Cancer Adenoma MESH:D000236 DO:DOID:3172|DO:DOID:5403|DO:DOID:6204|DO:DOID:657 A benign epithelial tumor with a glandular organization. MESH:D009375 C04.557.470.035 C04.557.470 Adenoma, Basal Cell|Adenoma, Follicular|Adenoma, Microcystic|Adenoma, Monomorphic|Adenoma, Papillary|Adenomas|Adenomas, Basal Cell|Adenomas, Follicular|Adenomas, Microcystic|Adenomas, Monomorphic|Adenomas, Papillary|Adenomas, Trabecular|Adenoma, Trabecular|Basal Cell Adenoma|Basal Cell Adenomas|Follicular Adenoma|Follicular Adenomas|Microcystic Adenoma|Microcystic Adenomas|Monomorphic Adenoma|Monomorphic Adenomas|Papillary Adenoma|Papillary Adenomas|Trabecular Adenoma|Trabecular Adenomas Cancer Adenoma, Acidophil MESH:D000239 DO:DOID:5392 A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed) MESH:D000236|MESH:D018358 C04.557.465.625.650.025|C04.557.470.035.025|C04.557.580.625.650.025 C04.557.465.625.650|C04.557.470.035|C04.557.580.625.650 Acidophil Adenoma|Acidophil Adenomas|Acidophilic Adenoma|Acidophilic Adenomas|Adenoma, Acidophilic|Adenoma, Eosinophil|Adenoma, Eosinophilic|Adenomas, Acidophil|Adenomas, Acidophilic|Adenomas, Eosinophil|Adenomas, Eosinophilic|Eosinophil Adenoma|Eosinophil Adenomas|Eosinophilic Adenoma|Eosinophilic Adenomas Cancer Adenoma, Basophil MESH:D000237 DO:DOID:4542 A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed) MESH:D000236|MESH:D018358 C04.557.465.625.650.075|C04.557.470.035.075|C04.557.580.625.650.075 C04.557.465.625.650|C04.557.470.035|C04.557.580.625.650 Adenoma, Basophilic|Adenomas, Basophil|Adenomas, Basophilic|Basophil Adenoma|Basophil Adenomas|Basophilic Adenoma|Basophilic Adenomas Cancer Adenoma, Bile Duct MESH:D002759 DO:DOID:5381 A benign tumor of the intrahepatic bile ducts. MESH:D000236 C04.557.470.035.085 C04.557.470.035 Adenomas, Bile Duct|Bile Duct Adenoma|Bile Duct Adenomas|Cholangioma|Cholangiomas Cancer Adenoma, Chromophobe MESH:D000238 DO:DOID:3828 A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes. MESH:D000236|MESH:D018358 C04.557.465.625.650.095|C04.557.470.035.095|C04.557.580.625.650.095 C04.557.465.625.650|C04.557.470.035|C04.557.580.625.650 Adenomas, Chromophobe|Chromophobe Adenoma|Chromophobe Adenomas Cancer Adenoma, Islet Cell MESH:D007516 DO:DOID:1799|DO:DOID:3892 A benign tumor of the pancreatic ISLET CELLS. Usually it involves the INSULIN-producing PANCREATIC BETA CELLS, as in INSULINOMA, resulting in HYPERINSULINISM. MESH:D000236|MESH:D010190 C04.557.470.035.100|C04.588.274.761.249|C04.588.322.475.249|C06.301.761.249|C06.689.667.249|C19.344.421.249 C04.557.470.035|C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Adenomas, Islet Cell|Island Cell Tumor|Island Cell Tumors|Islet Cell Adenoma|Islet Cell Adenomas|Islet Cell Tumor|Islet Cell Tumors|Islet of Langerhans Tumor|Langerhans Tumor Islet|Nesidioblastoma|Nesidioblastomas|Pancreatic Islet Cell Tumors|Tumor, Island Cell|Tumor, Islet Cell|Tumor Islet, Langerhans|Tumors, Island Cell|Tumors, Islet Cell Cancer|Digestive system disease|Endocrine system disease Adenoma, Liver Cell MESH:D018248 A benign epithelial tumor of the LIVER. MESH:D000236|MESH:D008113 C04.557.470.035.120|C04.588.274.623.040|C06.301.623.040|C06.552.697.040 C04.557.470.035|C04.588.274.623|C06.301.623|C06.552.697 Adenoma, Hepatocellular|Adenomas, Hepatocellular|Adenomas, Liver Cell|Benign Hepatoma|Benign Hepatomas|Hepatocellular Adenoma|Hepatocellular Adenomas|Hepatoma, Benign|Hepatomas, Benign|Liver Cell Adenoma|Liver Cell Adenomas Cancer|Digestive system disease Adenoma, Oxyphilic MESH:D018249 DO:DOID:5389 A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells. MESH:D000236 C04.557.470.035.140 C04.557.470.035 Huerthle Cell Tumor|Hurthle Cell Tumor|Oncocytoma|Oxyphilic Adenoma Cancer Adenoma, Pleomorphic MESH:D008949 DO:DOID:452 A benign, slow-growing tumor, most commonly of the salivary gland, occurring as a small, painless, firm nodule, usually of the parotid gland, but also found in any major or accessory salivary gland anywhere in the oral cavity. It is most often seen in women in the fifth decade. Histologically, the tumor presents a variety of cells: cuboidal, columnar, and squamous cells, showing all forms of epithelial growth. (Dorland, 27th ed) MESH:D000236|MESH:D018193 C04.557.435.090|C04.557.470.035.155 C04.557.435|C04.557.470.035 Adenomas, Pleomorphic|Chondroid Syringoma|Chondroid Syringomas|Mixed Salivary Gland Tumor|Pleomorphic Adenoma|Pleomorphic Adenomas|Salivary Gland Tumor, Mixed|Syringoma, Chondroid|Syringomas, Chondroid Cancer Adenoma, Sweat Gland MESH:D006607 DO:DOID:3896 A benign neoplasm derived from epithelial cells of sweat glands. (Stedman, 25th ed) MESH:D000236|MESH:D018294 C04.557.470.035.175|C04.557.470.550.175 C04.557.470.035|C04.557.470.550 Adenomas, Sweat Gland|Sweat Gland Adenoma|Sweat Gland Adenomas|Syringadenoma|Syringadenomas Cancer Adenomatoid Tumor MESH:D018254 DO:DOID:746 A small, circumscribed, benign tumor of the genital tract, composed of small glandlike spaces lined by flattened or cuboidal mesothelium-like cells. (From Dorland, 27th ed) MESH:D000236|MESH:D018301 C04.557.470.035.200|C04.557.470.660.200 C04.557.470.035|C04.557.470.660 Adenomatoid Tumors|Tumor, Adenomatoid|Tumors, Adenomatoid Cancer Adenomatosis, Pulmonary MESH:D018255 A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed) MESH:D000236 C04.557.470.035.210 C04.557.470.035 Adenomatoses, Pulmonary|Pulmonary Adenomatoses|Pulmonary Adenomatosis Cancer Adenomatous Polyposis Coli MESH:D011125 DO:DOID:0050424|OMIM:175100|OMIM:616415|OMIM:617100 A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. MESH:D009386|MESH:D015179|MESH:D018256|MESH:D044483 C04.557.470.035.215.100|C04.588.274.476.411.307.089|C04.700.100|C06.301.371.411.307.090|C06.405.249.411.307.090|C06.405.469.158.356.090|C06.405.469.491.307.090|C06.405.469.578.249|C16.320.700.100 C04.557.470.035.215|C04.588.274.476.411.307|C04.700|C06.301.371.411.307|C06.405.249.411.307|C06.405.469.158.356|C06.405.469.491.307|C06.405.469.578|C16.320.700 AAPC, INCLUDED|ADENOMA, PERIAMPULLARY, SOMATIC, INCLUDED|Adenomatous Intestinal Polyposes|Adenomatous Intestinal Polyposis|Adenomatous Polyposes, Familial|ADENOMATOUS POLYPOSIS COLI, ATTENUATED, INCLUDED|Adenomatous Polyposis Coli, Familial|Adenomatous Polyposis Colus|Adenomatous Polyposis, Familial|Adenomatous Polyposis of the Colon|AFAP, INCLUDED|APC|BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED|BTPS2, INCLUDED|Coli, Adenomatous Polyposis|Coli, Familial Polyposis|Coli, Hereditary Polyposis|Coli, Polyposis|Colus, Adenomatous Polyposis|Colus, Familial Polyposis|Colus, Hereditary Polyposis|Colus, Polyposis|Familial Adenomatous Polyposes|Familial Adenomatous Polyposis|FAMILIAL ADENOMATOUS POLYPOSIS 1|FAMILIAL ADENOMATOUS POLYPOSIS 3|FAMILIAL ADENOMATOUS POLYPOSIS 4|FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED, INCLUDED|Familial Adenomatous Polyposis Coli|Familial Adenomatous Polyposis of the Colon|Familial Intestinal Polyposes|Familial Intestinal Polyposis|Familial Multiple Polyposes|Familial Multiple Polyposi|Familial Multiple Polyposis|Familial Multiple Polyposis Syndrome|Familial Multiple Polyposus|Familial Polyposis Coli|Familial Polyposis Colus|Familial Polyposis of the Colon|Familial Polyposis Syndrome|Familial Polyposis Syndromes|FAP1|FAP3|FAP4|FPC|GS, INCLUDED|Hereditary Polyposis Coli|Hereditary Polyposis Colus|Intestinal Polyposes, Familial|Intestinal Polyposis, Adenomatous|Intestinal Polyposis, Familial|Multiple Polyposes, Familial|Multiple Polyposi, Familial|Multiple Polyposis, Familial|Multiple Polyposus, Familial|Myh-Associated Polyposes|Myh Associated Polyposis|Myh-Associated Polyposis|Polyposes, Familial Adenomatous|Polyposes, Familial Multiple|Polyposes, Myh-Associated|Polyposi, Familial Multiple|Polyposis, Adenomatous Intestinal|POLYPOSIS, ADENOMATOUS INTESTINAL GARDNER SYNDROME, INCLUDED|Polyposis Coli|Polyposis Coli, Adenomatous|Polyposis Coli, Familial|Polyposis Coli, Hereditary|Polyposis Colus|Polyposis Colus, Adenomatous|Polyposis Colus, Familial|Polyposis Colus, Hereditary|Polyposis, Familial Adenomatous|Polyposis, Familial Multiple|Polyposis, Myh-Associated|Polyposis Syndrome, Familial|Polyposus, Familial Multiple Cancer|Digestive system disease|Genetic disease (inborn) Adenomatous Polyposis Coli, Attenuated MESH:C566778 MESH:D005736 C04.557.470.035.215.100.500/C566778|C04.588.274.476.411.307.089.393/C566778|C04.700.100.392/C566778|C06.301.371.411.307.090.500/C566778|C06.405.249.411.307.090.500/C566778|C06.405.469.158.356.090.500/C566778|C06.405.469.491.307.090.500/C566778|C06.405.469.578.249.393/C566778|C16.131.077.393/C566778|C16.320.700.100.393/C566778 C04.557.470.035.215.100.500|C04.588.274.476.411.307.089.393|C04.700.100.392|C06.301.371.411.307.090.500|C06.405.249.411.307.090.500|C06.405.469.158.356.090.500|C06.405.469.491.307.090.500|C06.405.469.578.249.393|C16.131.077.393|C16.320.700.100.393 Brain Tumor-Polyposis Syndrome 2 Cancer|Congenital abnormality|Digestive system disease|Genetic disease (inborn) Adenomatous Polyps MESH:D018256 Benign neoplasms derived from glandular epithelium. (From Stedman, 25th ed) MESH:D000236 C04.557.470.035.215 C04.557.470.035 Adenomatous Polyp|Polyp, Adenomatous|Polyps, Adenomatous Cancer Adenoma, Villous MESH:D018253 An adenoma of the large intestine. It is usually a solitary, sessile, often large, tumor of colonic mucosa composed of mucinous epithelium covering delicate vascular projections. Hypersecretion and malignant changes occur frequently. (Stedman, 25th ed) MESH:D000236 C04.557.470.035.185 C04.557.470.035 Adenomas, Villous|Villous Adenoma|Villous Adenomas Cancer Adenomyoepithelioma MESH:D055331 A mixed epithelial and myoepithelial neoplasm usually encountered within the breast. It is a multinodular lesion presenting with a bicellular pattern of proliferating epithelial and myoepithelial cells, which are regularly distributed in the glandular structures. MESH:D018193 C04.557.435.108 C04.557.435 Adenomyoepitheliomas Cancer Adenomyoma MESH:D018194 DO:DOID:2609 A benign neoplasm of muscle (usually smooth muscle) with glandular elements. It occurs most frequently in the uterus and uterine ligaments. (Stedman, 25th ed) MESH:D018193 C04.557.435.110 C04.557.435 Adenomyomas Cancer Adenomyosis MESH:D062788 The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma. MESH:D014591 C12.050.351.500.852.113|C12.100.250.852.113 C12.050.351.500.852|C12.100.250.852 Adenomyoses Urogenital disease (female) Adenophorea Infections MESH:D017188 Infections with nematodes of the subclass ADENOPHOREA. MESH:D009349 C01.610.335.508.100 C01.610.335.508 Adenophorea Infection|Aphasmidia Infection|Aphasmidia Infections|Infection, Adenophorea|Infection, Aphasmidia|Infections, Adenophorea|Infections, Aphasmidia Parasitic disease Adenosarcoma MESH:D018195 DO:DOID:1974 A malignant neoplasm arising simultaneously or consecutively in mesodermal tissue and glandular epithelium of the same part. (Stedman, 25th ed) MESH:D012509|MESH:D018193 C04.557.435.135|C04.557.450.795.135 C04.557.435|C04.557.450.795 Adenosarcomas Cancer Adenosarcoma of the uterus MESH:C538232 MESH:D014594|MESH:D018195 C04.557.435.135/C538232|C04.557.450.795.135/C538232|C04.588.945.418.948/C538232|C12.050.351.500.852.762/C538232|C12.050.351.937.418.875/C538232|C12.100.250.852.762/C538232|C12.900.418.875/C538232 C04.557.435.135|C04.557.450.795.135|C04.588.945.418.948|C12.050.351.500.852.762|C12.050.351.937.418.875|C12.100.250.852.762|C12.900.418.875 Mullerian adenosarcoma of the uterus|Uterine adenosarcoma Cancer|Urogenital disease (female) Adenosine Deaminase, Elevated, Hemolytic Anemia Due To MESH:C566314 MESH:D000743 C15.378.071.141/C566314 C15.378.071.141 Blood disease Adenosine monophosphate deaminase deficiency MESH:C538234 MESH:D011686 C16.320.565.798/C538234|C18.452.648.798/C538234 C16.320.565.798|C18.452.648.798 Myoadenylate Deaminase Deficiency, Myopathy due to Genetic disease (inborn)|Metabolic disease Adenosine Triphosphatase Deficiency, Anemia Due To MESH:C566311 MESH:D000746 C15.378.071.141.150.100/C566311|C16.320.070.100/C566311 C15.378.071.141.150.100|C16.320.070.100 Blood disease|Genetic disease (inborn) Adenosine Triphosphate, Elevated, Of Erythrocytes MESH:C566310 OMIM:102900 MESH:D006402 C15.378/C566310 C15.378 Pyruvate Kinase Hyperactivity Blood disease Adenoviridae Infections MESH:D000257 Virus diseases caused by the ADENOVIRIDAE. MESH:D004266 C01.925.256.076 C01.925.256 Adenoviridae Infection|Adenovirus Infection|Adenovirus Infections|Infection, Adenoviridae|Infection, Adenovirus|Infections, Adenoviridae|Infections, Adenovirus Viral disease Adenovirus Infections, Human MESH:D000258 DO:DOID:13801 Respiratory and conjunctival infections caused by 33 identified serotypes of human adenoviruses. MESH:D000257 C01.925.256.076.045 C01.925.256.076 Adenovirus Infection, Human|Fever, Pharyngo-Conjunctival|Human Adenovirus Infection|Human Adenovirus Infections|Infection, Human Adenovirus|Infections, Human Adenovirus|Pharyngo Conjunctival Fever|Pharyngo-Conjunctival Fever Viral disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To MESH:C567228 OMIM:612631 MESH:D000743 C15.378.071.141/C567228 C15.378.071.141 Blood disease Adenylosuccinate lyase deficiency MESH:C538235 OMIM:103050 MESH:D001321|MESH:D011686 C16.320.565.798/C538235|C18.452.648.798/C538235|F03.625.164.113.500/C538235 C16.320.565.798|C18.452.648.798|F03.625.164.113.500 Adenylosuccinase deficiency|ADENYLOSUCCINATE LYASE DEFICIENCY|Adenylosuccinate lyase deficiency type 1|Adenylosuccinate lyase deficiency type 2|Adenylosuccinate lyase deficiency type 3|Adenylosuccinate lyase deficiency type 4|ADSLD|ADSL Deficiency|Succinylpurinemic autism Genetic disease (inborn)|Mental disorder|Metabolic disease adiaspiromycosis MESH:C000656784 DO:DOID:0050072 MESH:D008172 C01.150.703.534/C000656784|C01.748.435/C000656784|C08.381.472/C000656784|C08.730.435/C000656784 C01.150.703.534|C01.748.435|C08.381.472|C08.730.435 Emmonsia crescens infection|haplomycosis Bacterial infection or mycosis|Respiratory tract disease Adie Syndrome MESH:D000270 DO:DOID:11549 A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279) MESH:D001342|MESH:D015840|MESH:D015845 C10.177.045|C10.292.562.700.250|C11.590.436.200|C11.710.800.180 C10.177|C10.292.562.700|C11.590.436|C11.710.800 Adie's Syndrome|Holmes Adie Syndrome|Holmes-Adie Syndrome|Poorly Reacting Pupil|Poorly Reacting Pupils|Pupil, Poorly Reacting|Pupils, Poorly Reacting|Syndrome, Adie|Syndrome, Adie's|Syndrome, Holmes-Adie Eye disease|Nervous system disease ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 OMIM:606770 MESH:D008659|MESH:D009765 C18.452/606770|C18.654.726.750.500/606770|C23.888.144.699.500/606770 C18.452|C18.654.726.750.500|C23.888.144.699.500 ADIPQTL2|CAQ5|CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 5 Metabolic disease|Nutrition disorder|Signs and symptoms ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 OMIM:606771 MESH:D008659|MESH:D009765 C18.452/606771|C18.654.726.750.500/606771|C23.888.144.699.500/606771 C18.452|C18.654.726.750.500|C23.888.144.699.500 ADIPQTL3|CAQ14|CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14 Metabolic disease|Nutrition disorder|Signs and symptoms Adiposis Dolorosa MESH:D000274 DO:DOID:3928 A rare disease characterized by multiple tumor-like fatty deposits that press on nerves in various sites causing pain and weakness. Often these lipoma-like structures are located on the trunk and limbs but not on the face and hands. MESH:D008068 C17.800.463.249|C18.452.584.718.500 C17.800.463|C18.452.584.718 Adiposalgia|Adiposalgias|Adipose Tissue Rheumatism|Adipose Tissue Rheumatisms|Ander's Syndrome|Anders Syndrome|Anders Syndromes|Ander Syndrome|Decum Vitaut Syndrome|Decum-Vitaut Syndrome|Dercum Disease|Dercum, Morbus|Dercum's Disease|Dercums Disease|Dercums, Morbus|Disease, Dercum|Disease, Dercum's|Dolorosa, Lipomatosis|Dolorosas, Lipomatosis|Lipomatosis Dolorosa|Lipomatosis Dolorosas|Morbus Dercum|Morbus Dercums|Rheumatism, Adipose Tissue|Rheumatisms, Adipose Tissue|Syndrome, Ander's|Syndrome, Anders|Syndrome, Decum-Vitaut|Syndromes, Anders|Tissue Rheumatism, Adipose|Tissue Rheumatisms, Adipose Metabolic disease|Skin disease Adjustment Disorders MESH:D000275 DO:DOID:4964 Maladaptive reactions to identifiable psychosocial stressors occurring within a short time after onset of the stressor. They are manifested by either impairment in social or occupational functioning or by symptoms (depression, anxiety, etc.) that are in excess of a normal and expected reaction to the stressor. MESH:D000068099 F03.950.500 F03.950 Adjustment Disorder|Anniversary Reaction|Anniversary Reactions|Depression, Reactive|Depressions, Reactive|Disorder, Adjustment|Disorder, Reactive|Disorders, Adjustment|Disorders, Reactive|Disturbances, Transient Situational|Disturbance, Transient Situational|Reaction, Anniversary|Reactions, Anniversary|Reactive Depression|Reactive Depressions|Reactive Disorder|Reactive Disorders|Situational Disturbances, Transient|Situational Disturbance, Transient|Transient Situational Disturbance|Transient Situational Disturbances Mental disorder Adnexal Diseases MESH:D000291 Diseases of the uterine appendages (ADNEXA UTERI) including diseases involving the OVARY, the FALLOPIAN TUBES, and ligaments of the uterus (BROAD LIGAMENT; ROUND LIGAMENT). MESH:D005831 C12.050.351.500.056|C12.100.250.056 C12.050.351.500|C12.100.250 Adnexal Disease|Disease, Adnexal|Diseases, Adnexal Urogenital disease (female) Adrenal Cortex Diseases MESH:D000303 DO:DOID:3952 Pathological processes of the ADRENAL CORTEX. MESH:D000307 C19.053.098 C19.053 Adrenal Cortex Disease|Cortex Disease, Adrenal|Cortex Diseases, Adrenal|Disease, Adrenal Cortex|Diseases, Adrenal Cortex Endocrine system disease Adrenal Cortex Neoplasms MESH:D000306 DO:DOID:660 Tumors or cancers of the ADRENAL CORTEX. MESH:D000303|MESH:D000310 C04.588.322.078.265|C19.053.098.265|C19.053.347.500|C19.344.078.265 C04.588.322.078|C19.053.098|C19.053.347|C19.344.078 Adrenal Cortex Cancer|Adrenal Cortex Cancers|Adrenal Cortex Neoplasm|Adrenocortical Cancer|Adrenocortical Cancers|Cancer, Adrenal Cortex|Cancer, Adrenocortical|Cancer of Adrenal Cortex|Cancer of the Adrenal Cortex|Cancers, Adrenal Cortex|Cancers, Adrenocortical|Neoplasm, Adrenal Cortex|Neoplasms, Adrenal Cortex Cancer|Endocrine system disease Adrenal Gland Diseases MESH:D000307 DO:DOID:9553 Pathological processes of the ADRENAL GLANDS. MESH:D004700 C19.053 C19 Adrenal Gland Disease|Disease, Adrenal Gland|Diseases, Adrenal Gland|Gland Disease, Adrenal|Gland Diseases, Adrenal Endocrine system disease Adrenal Gland Neoplasms MESH:D000310 DO:DOID:3953 Tumors or cancer of the ADRENAL GLANDS. MESH:D000307|MESH:D004701 C04.588.322.078|C19.053.347|C19.344.078 C04.588.322|C19.053|C19.344 Adrenal Cancer|Adrenal Cancers|Adrenal Gland Cancer|Adrenal Gland Cancers|Adrenal Gland Neoplasm|Adrenal Neoplasm|Adrenal Neoplasms|Cancer, Adrenal|Cancer, Adrenal Gland|Cancer of the Adrenal Gland|Cancers, Adrenal|Cancers, Adrenal Gland|Neoplasm, Adrenal|Neoplasm, Adrenal Gland|Neoplasms, Adrenal|Neoplasms, Adrenal Gland Cancer|Endocrine system disease Adrenal hyperplasia 2 MESH:C538236 OMIM:201810 MESH:D000312 C12.050.351.875.253.090.500/C538236|C12.200.706.316.090.500/C538236|C12.800.316.090.500/C538236|C16.131.939.316.129.500/C538236|C16.320.033/C538236|C16.320.565.925.249/C538236|C18.452.648.925.249/C538236|C19.053.440/C538236|C19.391.119.090.500/C538236 C12.050.351.875.253.090.500|C12.200.706.316.090.500|C12.800.316.090.500|C16.131.939.316.129.500|C16.320.033|C16.320.565.925.249|C18.452.648.925.249|C19.053.440|C19.391.119.090.500 3 alpha beta-HSD deficiency|3 alpha beta-hydroxysteroid dehydrogenase deficiency|3 alpha beta-hydroxysteroid dehydrogenase, type 2, deficiency of|3 Beta-Hsd Deficiency|3-BETA-HSD DEFICIENCY|3beta-Hsd Deficiency|3beta-Hsd Deficiency Congenital Adrenal Hyperplasia|3-Beta Hydroxysteroid Dehydrogenase Deficiency|3beta-Hydroxysteroid Dehydrogenase Deficiency|3 beta-ol Dehydrogenase Deficiency|3b-Hydroxysteroid Dehydrogenase Deficiency|ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY|ADRENAL HYPERPLASIA II|HSDB|HSDB3|Type II 3beta-Hydroxysteroid Dehydrogenase Deficiency Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Adrenal Hyperplasia, Congenital MESH:D000312 A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. MESH:D000307|MESH:D030342|MESH:D043202|MESH:D047808 C12.050.351.875.253.090.500|C12.200.706.316.090.500|C12.800.316.090.500|C16.131.939.316.129.500|C16.320.033|C16.320.565.925.249|C18.452.648.925.249|C19.053.440|C19.391.119.090.500 C12.050.351.875.253.090|C12.200.706.316.090|C12.800.316.090|C16.131.939.316.129|C16.320|C16.320.565.925|C18.452.648.925|C19.053|C19.391.119.090 Adrenal Hyperplasias, Congenital|Congenital Adrenal Hyperplasia|Congenital Adrenal Hyperplasias|Hyperplasia, Congenital Adrenal|Hyperplasias, Congenital Adrenal Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Adrenal hyperplasia, congenital, type 5 MESH:C538237 OMIM:202110 MESH:D000312 C12.050.351.875.253.090.500/C538237|C12.200.706.316.090.500/C538237|C12.800.316.090.500/C538237|C16.131.939.316.129.500/C538237|C16.320.033/C538237|C16.320.565.925.249/C538237|C18.452.648.925.249/C538237|C19.053.440/C538237|C19.391.119.090.500/C538237 C12.050.351.875.253.090.500|C12.200.706.316.090.500|C12.800.316.090.500|C16.131.939.316.129.500|C16.320.033|C16.320.565.925.249|C18.452.648.925.249|C19.053.440|C19.391.119.090.500 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE, INCLUDED|17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL, INCLUDED|17-alpha-hydroxylase deficiency|17-ALPHA-HYDROXYLASE DEFICIENCY 17,20-LYASE DEFICIENCY, ISOLATED, INCLUDED|Adrenal hyperplasia, congenital due to 17-alpha-hydroxylase deficiency|Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency|Adrenal Hyperplasia V Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone MESH:C565976 MESH:D000309 C19.053.500/C565976 C19.053.500 Endocrine system disease Adrenal Hypoplasia, Congenital, with Precocious Puberty MESH:C564568 MESH:D000312|MESH:D011629|MESH:D040181 C12.050.351.875.253.090.500/C564568|C12.200.706.316.090.500/C564568|C12.800.316.090.500/C564568|C16.131.939.316.129.500/C564568|C16.320.033/C564568|C16.320.322/C564568|C16.320.565.925.249/C564568|C18.452.648.925.249/C564568|C19.053.440/C564568|C19.391.119.090.500/C564568|C19.391.693/C564568 C12.050.351.875.253.090.500|C12.200.706.316.090.500|C12.800.316.090.500|C16.131.939.316.129.500|C16.320.033|C16.320.322|C16.320.565.925.249|C18.452.648.925.249|C19.053.440|C19.391.119.090.500|C19.391.693 Adrenal Insufficiency, Progressive, and Hypogonadotropic Hypogonadism Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Adrenal incidentaloma MESH:C538238 MESH:D000310 C04.588.322.078/C538238|C19.053.347/C538238|C19.344.078/C538238 C04.588.322.078|C19.053.347|C19.344.078 Adrenal incidentalomas Cancer|Endocrine system disease Adrenal Insufficiency MESH:D000309 Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS. MESH:D000307 C19.053.500 C19.053 Adrenal Gland Hypofunction|Adrenal Insufficiencies|Hypoadrenalism|Hypofunction, Adrenal Gland Endocrine system disease Adrenal Insufficiency, Congenital MESH:C566130 MESH:D000309 C19.053.500/C566130 C19.053.500 Endocrine system disease Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal MESH:C566131 OMIM:613743 MESH:D000309|MESH:D006061 C12.050.351.875.253.096.687/C566131|C12.050.351.875.253.309.388/C566131|C12.200.706.316.096.687/C566131|C12.200.706.316.309.388/C566131|C12.800.316.096.687/C566131|C12.800.316.309.388/C566131|C16.131.939.316.096.687/C566131|C16.131.939.316.309.388/C566131|C19.053.500/C566131|C19.391.119.096.687/C566131|C19.391.119.309.388/C566131 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.053.500|C19.391.119.096.687|C19.391.119.309.388 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE|P450scc DEFICIENCY Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Adrenal Rest Tumor MESH:D000314 DO:DOID:1786 Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion. MESH:D000236 C04.557.470.035.232 C04.557.470.035 Adrenal Cortical Rest Tumor|Adrenal Rest Tumors|Rest Tumor, Adrenal|Rest Tumors, Adrenal|Tumor, Adrenal Rest|Tumors, Adrenal Rest Cancer Adrenocortical Adenoma MESH:D018246 A benign neoplasm of the ADRENAL CORTEX. It is characterized by a well-defined nodular lesion, usually less than 2.5 cm. Most adrenocortical adenomas are nonfunctional. The functional ones are yellow and contain LIPIDS. Depending on the cell type or cortical zone involved, they may produce ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. MESH:D000306 C04.588.322.078.265.500|C19.053.098.265.500|C19.053.347.500.500|C19.344.078.265.500 C04.588.322.078.265|C19.053.098.265|C19.053.347.500|C19.344.078.265 Adenoma, Adrenal Cortical|Adenoma, Adrenocortical|Adenoma, Conn|Adenomas, Adrenal Cortical|Adenomas, Adrenocortical|Adenomas, Conn|Adrenal Cortical Adenoma|Adrenal Cortical Adenomas|Adrenocortical Adenomas|Conn Adenoma|Conn Adenomas|Conn Disease|Conn's Disease|Conns Disease|Disease, Conn|Disease, Conn's Cancer|Endocrine system disease Adrenocortical Carcinoma MESH:D018268 DO:DOID:3948 A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM. MESH:D000230|MESH:D000306 C04.557.470.200.025.152|C04.588.322.078.265.750|C19.053.098.265.750|C19.053.347.500.750|C19.344.078.265.750 C04.557.470.200.025|C04.588.322.078.265|C19.053.098.265|C19.053.347.500|C19.344.078.265 Adrenal Cortical Carcinoma|Adrenal Cortical Carcinomas|Adrenocortical Carcinomas|Carcinoma, Adrenal Cortical|Carcinoma, Adrenocortical|Carcinomas, Adrenal Cortical|Carcinomas, Adrenocortical Cancer|Endocrine system disease Adrenocortical Carcinoma, Hereditary MESH:C565972 OMIM:202300 MESH:D018268 C04.557.470.200.025.152/C565972|C04.588.322.078.265.750/C565972|C19.053.098.265.750/C565972|C19.053.347.500.750/C565972|C19.344.078.265.750/C565972 C04.557.470.200.025.152|C04.588.322.078.265.750|C19.053.098.265.750|C19.053.347.500.750|C19.344.078.265.750 ADCC|ADRENOCORTICAL CARCINOMA, PEDIATRIC, INCLUDED Cancer|Endocrine system disease Adrenocortical Carcinoma, Pediatric MESH:C565973 MESH:D018268 C04.557.470.200.025.152/C565973|C04.588.322.078.265.750/C565973|C19.053.098.265.750/C565973|C19.053.347.500.750/C565973|C19.344.078.265.750/C565973 C04.557.470.200.025.152|C04.588.322.078.265.750|C19.053.098.265.750|C19.053.347.500.750|C19.344.078.265.750 Cancer|Endocrine system disease Adrenocortical Hyperfunction MESH:D000308 DO:DOID:3947 Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM. MESH:D000307 C19.053.800 C19.053 Adrenal Gland Hyperfunction|Hyperadrenalism|Hyperadrenocorticism|Hypercorticism|Hyperfunction, Adrenal Gland|Hyperfunction, Adrenocortical Endocrine system disease Adrenocortical Hypofunction, Chronic Primary Congenital MESH:C562711 MESH:D000309|MESH:D030342 C16.320/C562711|C19.053.500/C562711 C16.320|C19.053.500 Addison Disease, Congenital Endocrine system disease|Genetic disease (inborn) Adrenocortical Unresponsiveness To Acth With Postreceptor Defect MESH:C565971 MESH:D000303 C19.053.098/C565971 C19.053.098 Familial Glucocorticoid Deficiency Due To Defect Distal To Acth Receptor Endocrine system disease Adrenocorticotropic hormone deficiency MESH:C535668 DO:DOID:0080150 MESH:D000309 C19.053.500/C535668 C19.053.500 Endocrine system disease Adrenogenital Syndrome MESH:D047808 Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females; FEMINIZATION in males; or precocious sexual development in children. MESH:D012734 C12.050.351.875.253.090|C12.200.706.316.090|C12.800.316.090|C16.131.939.316.129|C19.391.119.090 C12.050.351.875.253|C12.200.706.316|C12.800.316|C16.131.939.316|C19.391.119 Adrenogenital Syndromes|Syndrome, Adrenogenital|Syndromes, Adrenogenital Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Adrenoleukodystrophy MESH:D000326 DO:DOID:10588|OMIM:300100 An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). MESH:D000309|MESH:D018901|MESH:D020279|MESH:D020739|MESH:D038901 C10.228.140.163.100.084|C10.228.140.163.100.362.250|C10.228.140.695.625.250|C10.314.400.250|C10.597.606.360.455.124|C16.320.322.500.124|C16.320.400.525.124|C16.320.565.189.084|C16.320.565.189.362.250|C16.320.565.663.100|C18.452.132.100.084|C18.452.132.100.362.250|C18.452.648.189.084|C18.452.648.189.362.250|C18.452.648.663.100|C19.053.500.270 C10.228.140.163.100|C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C16.320.565.189|C16.320.565.189.362|C16.320.565.663|C18.452.132.100|C18.452.132.100.362|C18.452.648.189|C18.452.648.189.362|C18.452.648.663|C19.053.500 Addison Disease and Cerebral Sclerosis|Adrenoleukodystrophy, X-Linked|Adrenomyeloneuropathy|ALD|ALD (Adrenoleukodystrophy)|AMN, INCLUDED|Bronze Schilder Disease|Leukodystrophies, Melanodermic|Leukodystrophy, Melanodermic|Melanodermic Leukodystrophy|MELANODERMIC LEUKODYSTROPHY ADRENOMYELONEUROPATHY, INCLUDED|Schilder Addison Complex|Schilder-Addison Complex|Siemerling Creutzfeldt Disease|Siemerling-Creutzfeldt Disease|X ALD|X-ALD|X ALD (X Linked Adrenoleukodystrophy)|X-ALD (X-Linked Adrenoleukodystrophy)|X Linked Adrenoleukodystrophy|X-Linked Adrenoleukodystrophy Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Adrenomyodystrophy MESH:C538051 MESH:D000309 C19.053.500/C538051 C19.053.500 Endocrine system disease Adult i Blood Group with Congenital Cataract MESH:C566214 MESH:D002386 C11.510.245/C566214 C11.510.245 Adult i Blood Group Phenotype|Adult i Blood Group without Congenital Cataract Eye disease adult multisystem inflammatory disease, COVID-19 related MESH:C000718087 MESH:D000086382|MESH:D018746 C01.748.610.763.500/C000718087|C01.925.705.500/C000718087|C01.925.782.600.550.200.163/C000718087|C08.381.677.807.500/C000718087|C08.730.610.763.500/C000718087|C23.550.470.790/C000718087|C23.550.835.900/C000718087 C01.748.610.763.500|C01.925.705.500|C01.925.782.600.550.200.163|C08.381.677.807.500|C08.730.610.763.500|C23.550.470.790|C23.550.835.900 adult multi-system inflammatory disease, COVID-19 related|COVID-19-associated multi-system inflammatory syndrome in adults|COVID-19-associated multisystem inflammatory syndrome in adults|MIS-A|MIS-A associated with COVID-19|MISA associated with COVID-19|multi-system inflammatory disease, adult, COVID-19 related|multisystem inflammatory disease, adult, COVID-19 related|multi-system inflammatory syndrome in adults associated with COVID-19|multisystem inflammatory syndrome in adults associated with COVID-19 Pathology (process)|Respiratory tract disease|Viral disease Adult-onset citrullinemia type 2 MESH:C538053 OMIM:603471 MESH:D020159 C10.228.140.163.100.937.374/C538053|C16.320.565.100.940.374/C538053|C16.320.565.189.937.374/C538053|C18.452.132.100.937.374/C538053|C18.452.648.100.940.374/C538053|C18.452.648.189.937.374/C538053 C10.228.140.163.100.937.374|C16.320.565.100.940.374|C16.320.565.189.937.374|C18.452.132.100.937.374|C18.452.648.100.940.374|C18.452.648.189.937.374 Citrin deficiency|Citrullinemia, Type II, Adult-Onset|CTLN2 Genetic disease (inborn)|Metabolic disease|Nervous system disease Advanced Sleep-Phase Syndrome, Familial MESH:C565789 OMIM:604348|OMIM:615224|OMIM:616882 MESH:D020178 C10.281.800/C565789|C10.886.425.200/C565789|C24.900/C565789|F03.870.400.200/C565789 C10.281.800|C10.886.425.200|C24.900|F03.870.400.200 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1|ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2|ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3|Fasps|FASPS1|FASPS2|FASPS3 Mental disorder|Nervous system disease|Occupational disease Aerobic actinomyces infection MESH:C538054 MESH:D000196 C01.150.252.410.040.137/C538054 C01.150.252.410.040.137 Bacterial infection or mycosis Aerophagy MESH:D000334 Spasmodic swallowing of air. MESH:D012817 C23.888.821.061 C23.888.821 Air Swallowing|Swallowing, Air Signs and symptoms Aerophobia MESH:C000719189 DO:DOID:605 MESH:D010698 F03.080.725/C000719189 F03.080.725 Fear of flying|Phobia, flying Mental disorder Affective Disorders, Psychotic MESH:D000341 Disorders in which the essential feature is a severe disturbance in mood (depression, anxiety, elation, and excitement) accompanied by psychotic symptoms such as delusions, hallucinations, gross impairment in reality testing, etc. MESH:D019967 F03.700.150 F03.700 Affective Disorder, Psychotic|Affective Psychoses|Depression, Reactive, Psychotic|Disorder, Psychotic Affective|Disorders, Psychotic Affective|Mood Disorder, Psychotic|Mood Disorders, Psychotic|Psychoses, Affective|Psychotic Affective Disorder|Psychotic Affective Disorders|Psychotic Mood Disorder|Psychotic Mood Disorders Mental disorder Afferent Loop Syndrome MESH:D000343 DO:DOID:8438 A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid. MESH:D007415|MESH:D011183 C06.405.469.531.099|C23.550.767.050 C06.405.469.531|C23.550.767 Afferent Loop Syndromes|Loop Syndrome, Afferent|Loop Syndromes, Afferent|Syndrome, Afferent Loop|Syndromes, Afferent Loop Digestive system disease|Pathology (process) Afibrinogenemia MESH:D000347 DO:DOID:2236|OMIM:202400 A deficiency or absence of FIBRINOGEN in the blood. MESH:D006474|MESH:D020147|MESH:D025861 C15.378.100.100.056|C15.378.100.141.072|C15.378.463.067|C16.320.099.056 C15.378.100.100|C15.378.100.141|C15.378.463|C16.320.099 Afibrinogenaemia, Congenital|Afibrinogenaemias, Congenital|Afibrinogenemia, Congenital|Afibrinogenemia, Familial|Afibrinogenemias|Afibrinogenemias, Congenital|Afibrinogenemias, Familial|Congenital Afibrinogenaemia|Congenital Afibrinogenaemias|Congenital Afibrinogenemia|Congenital Afibrinogenemias|Congenital Hypofibrinogenemia|Congenital Hypofibrinogenemias|Deficiency, Fibrinogen|Familial Afibrinogenemia|Familial Afibrinogenemias|Fibrinogen Deficiencies|Fibrinogen Deficiency|Hypofibrinogenemia, Congenital|HYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED|Hypofibrinogenemias, Congenital Blood disease|Genetic disease (inborn) African Hemochromatosis MESH:C579887 MESH:D012806 C08.381.483.581.750/C579887|C08.381.520.702.750/C579887|C24.800.773/C579887 C08.381.483.581.750|C08.381.520.702.750|C24.800.773 African Siderosis Occupational disease|Respiratory tract disease African Horse Sickness MESH:D000355 An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck. MESH:D001102|MESH:D006734|MESH:D012088 C01.920.500.030|C01.925.081.030|C01.925.782.791.142|C22.488.088 C01.920.500|C01.925.081|C01.925.782.791|C22.488 African Horsesickness|African Horsesicknesses|African Horse Sicknesses|Equine Plague|Equine Plagues|Horsesickness, African|Horse Sickness, African|Horsesicknesses, African|Horse Sicknesses, African|Plague, Equine|Plagues, Equine|Sickness, African Horse|Sicknesses, African Horse Animal disease|Viral disease African Swine Fever MESH:D000357 A sometimes fatal ASFIVIRUS infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros). MESH:D001102|MESH:D004266|MESH:D013553|MESH:D017282 C01.920.930.125|C01.925.081.078|C01.925.256.142|C22.905.072 C01.920.930|C01.925.081|C01.925.256|C22.905 African Swine Fever Virus Infection|Asfivirus Infection|Asfivirus Infections|Infection, Asfivirus|Infections, Asfivirus|Swine Fever, African|Wart Hog Disease|Wart-Hog Disease|Wart-Hog Diseases Animal disease|Viral disease Agammaglobulinemia MESH:D000361 DO:DOID:2583|OMIM:601495|OMIM:612692|OMIM:613500|OMIM:613501|OMIM:613502|OMIM:613506|OMIM:616941 An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood. MESH:D001796|MESH:D007153|MESH:D008232 C15.378.147.142|C15.604.515.032|C20.673.088 C15.378.147|C15.604.515|C20.673 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE|AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE|AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE|AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE|AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT|AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE|AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT|AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT|AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO TCF3 DEFECT|AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT|AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT|AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT|AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT|AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT|Agammaglobulinemias|AGM1|AGM2|AGM3|AGM4|AGM5|AGM6|AGM8|AGM8A|Hypogammaglobulinemia|Hypogammaglobulinemias Blood disease|Immune system disease|Lymphatic disease AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE OMIM:615214 DO:DOID:0081139 MESH:D000361 C15.378.147.142/615214|C15.604.515.032/615214|C20.673.088/615214 C15.378.147.142|C15.604.515.032|C20.673.088 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT|AGM7 Blood disease|Immune system disease|Lymphatic disease Agammaglobulinemia, microcephaly, and severe dermatitis MESH:C538055 MESH:D000361|MESH:D003872|MESH:D008831 C05.660.207.620/C538055|C10.500.507.400.500/C538055|C15.378.147.142/C538055|C15.604.515.032/C538055|C16.131.621.207.620/C538055|C16.131.666.507.400.500/C538055|C17.800.174/C538055|C20.673.088/C538055 C05.660.207.620|C10.500.507.400.500|C15.378.147.142|C15.604.515.032|C16.131.621.207.620|C16.131.666.507.400.500|C17.800.174|C20.673.088 Blood disease|Congenital abnormality|Immune system disease|Lymphatic disease|Musculoskeletal disease|Nervous system disease|Skin disease Agammaglobulinemia, non-Bruton type MESH:C538056 MESH:D000361 C15.378.147.142/C538056|C15.604.515.032/C538056|C20.673.088/C538056 C15.378.147.142|C15.604.515.032|C20.673.088 Agammaglobulinemia, autosomal recessive|Agammaglobulinemia due to early proB cell defect|Agammaglobulinemia, Non-Bruton Type, Autosomal Recessive Blood disease|Immune system disease|Lymphatic disease Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant MESH:C563305 MESH:D000361 C15.378.147.142/C563305|C15.604.515.032/C563305|C20.673.088/C563305 C15.378.147.142|C15.604.515.032|C20.673.088 Blood disease|Immune system disease|Lymphatic disease Agammaglobulinemia, X-linked, type 2 MESH:C538057 DO:DOID:0111999|OMIM:300310 MESH:D000361|MESH:D040181 C15.378.147.142/C538057|C15.604.515.032/C538057|C16.320.322/C538057|C20.673.088/C538057 C15.378.147.142|C15.604.515.032|C16.320.322|C20.673.088 AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2|AGMX2|IMD61|IMMUNODEFICIENCY 61|XLA2 Blood disease|Genetic disease (inborn)|Immune system disease|Lymphatic disease Aganglionosis, total intestinal MESH:C538058 MESH:D006627 C06.198.439/C538058|C06.405.469.158.701.439/C538058|C16.131.314.439/C538058 C06.198.439|C06.405.469.158.701.439|C16.131.314.439 Near-total intestinal aganglionosis Congenital abnormality|Digestive system disease Agenesis of Cerebellar Vermis MESH:C536293 OMIM:213300 MESH:D000015|MESH:D005124|MESH:D052177 C11.250/C536293|C12.050.351.968.419.403/C536293|C12.200.777.419.403/C536293|C12.950.419.403/C536293|C16.131.077/C536293|C16.131.384/C536293 C11.250|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.077|C16.131.384 Cerebellar vermis agenesis|Cerebello-Oculo-Renal Syndrome|Cerebellooculorenal syndrome 1|Cerebelloparenchymal disorder 4|Cerebelloparenchymal Disorder IV|CORS1|CPD4|Familial Aplasia of the Vermis|JBTS|JBTS1|Joubert-Boltshauser syndrome|Joubert Syndrome|Joubert syndrome 1 Congenital abnormality|Eye disease|Urogenital disease (female)|Urogenital disease (male) Agenesis of Corpus Callosum MESH:D061085 Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity. MESH:D009421|MESH:D020763 C10.500.034|C16.131.666.034|C23.300.008 C10.500|C16.131.666|C23.300 Absence of Corpus Callosum|Ageneses, Corpus Callosum|Agenesis, Corpus Callosum|Corpus Callosum Absence|Corpus Callosum Absences|Corpus Callosum Ageneses|Corpus Callosum Agenesis|Corpus Callosum, Agenesis Of|Corpus Callosum Dysgeneses|Corpus Callosum Dysgenesis|Corpus Callosum Hypogeneses|Corpus Callosum Hypogenesis|Corpus Callosum Malformation|Dysgeneses, Corpus Callosum|Dysgenesis, Corpus Callosum|Hypogeneses, Corpus Callosum|Hypogenesis, Corpus Callosum Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Age-Related Hearing Impairment 1 MESH:C567305 OMIM:612448 MESH:D011304 C09.218.458.341.887.772/C567305|C10.597.751.418.341.887.772/C567305|C23.888.592.763.393.341.887.772/C567305 C09.218.458.341.887.772|C10.597.751.418.341.887.772|C23.888.592.763.393.341.887.772 ARHI1|Presbycusis 1 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Ageusia MESH:D000370 Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS. MESH:D013651 C10.597.751.861.184|C23.888.592.763.861.184 C10.597.751.861|C23.888.592.763.861 Ageusia, Hysterical|Ageusias, Hysterical|Hypogeusia|Hypogeusias|Hysterical Ageusia|Hysterical Ageusias|Loss of Taste|Taste Blindness|Taste-Blindness|Taste Loss Nervous system disease|Signs and symptoms Aggressive Periodontitis MESH:D010520 DO:DOID:1474|DO:DOID:9893|OMIM:170650 Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people. MESH:D010518 C07.465.714.533.161 C07.465.714.533 Circumpubertal Periodontitis|Early-Onset Periodontitides|Early Onset Periodontitis|Early-Onset Periodontitis|JP|JPD|Juvenile Periodontitides|Juvenile Periodontitis|Periodontitides, Early-Onset|Periodontitides, Juvenile|Periodontitis, Aggressive|Periodontitis, Aggressive, 1|Periodontitis, Circumpubertal|Periodontitis, Early-Onset|Periodontitis, Juvenile|Periodontitis, Prepubertal|Periodontoses|Periodontosis|PPP|Prepubertal Periodontitis Mouth disease Aging, Premature MESH:D019588 Changes in the organism associated with senescence, occurring at an accelerated rate. MESH:D012816 C23.888.069 C23.888 Premature Aging Signs and symptoms Agnathia-microstomia-synotia MESH:C538059 MESH:D007569|MESH:D008865 C05.500.460/C538059|C05.660.207.540.460/C538059|C07.320.440/C538059|C07.465.525.520/C538059|C07.650.500.460/C538059|C07.650.525.520/C538059|C16.131.621.207.540.460/C538059|C16.131.850.500.460/C538059|C16.131.850.525.520/C538059 C05.500.460|C05.660.207.540.460|C07.320.440|C07.465.525.520|C07.650.500.460|C07.650.525.520|C16.131.621.207.540.460|C16.131.850.500.460|C16.131.850.525.520 Agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment|Plurimalformative syndrome Congenital abnormality|Mouth disease|Musculoskeletal disease Agnosia MESH:D000377 DO:DOID:4090 Loss of the ability to comprehend the meaning or recognize the importance of various forms of stimulation that cannot be attributed to impairment of a primary sensory modality. Tactile agnosia is characterized by an inability to perceive the shape and nature of an object by touch alone, despite unimpaired sensation to light touch, position, and other primary sensory modalities. MESH:D010468 C10.597.606.762.100|C23.888.592.604.764.100 C10.597.606.762|C23.888.592.604.764 Agnosia, Auditory|Agnosia, Body-Image|Agnosia, Congenital Auditory|Agnosia, Developmental|Agnosia, Finger|Agnosia for Pain|Agnosia for Smell|Agnosia for Taste|Agnosia for Tastes|Agnosia for Temperature|Agnosia, Gustatory|Agnosia, Ideational|Agnosia, Olfactory|Agnosia, Position|Agnosias|Agnosias, Auditory|Agnosias, Body-Image|Agnosias, Congenital Auditory|Agnosias, Developmental|Agnosia, Sensory|Agnosias, Finger|Agnosias, Ideational|Agnosias, Olfactory|Agnosia, Somatosensory|Agnosias, Position|Agnosias, Sensory|Agnosias, Somatosensory|Agnosias, Tactile|Agnosias, Time|Agnosias, Topographical|Agnosias, Visual|Agnosias, Visuospatial|Agnosia, Tactile|Agnosia, Time|Agnosia, Topographical|Agnosia, Visual|Agnosia, Visuospatial|Anosognosia|Anosognosias|Auditory Agnosia|Auditory Agnosia, Congenital|Auditory Agnosias|Auditory Agnosias, Congenital|Body Image Agnosia|Body-Image Agnosia|Body-Image Agnosias|Congenital Auditory Agnosia|Congenital Auditory Agnosias|Developmental Agnosia|Developmental Agnosias|Finger Agnosia|Finger Agnosias|Gustatory Agnosia|Ideational Agnosia|Ideational Agnosias|Olfactory Agnosia|Olfactory Agnosias|Position Agnosia|Position Agnosias|Sensory Agnosia|Sensory Agnosias|Somatosensory Agnosia|Somatosensory Agnosias|Syndromes, Visual Disorientation|Syndrome, Visual Disorientation|Tactile Agnosia|Tactile Agnosias|Time Agnosia|Time Agnosias|Topographical Agnosia|Topographical Agnosias|Visual Agnosia|Visual Agnosia for Objects|Visual Agnosias|Visual Disorientation Syndrome|Visual Disorientation Syndromes|Visuospatial Agnosia|Visuospatial Agnosias Nervous system disease|Signs and symptoms Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations MESH:C563429 MESH:D000015|MESH:D001848|MESH:D006061|MESH:D006130|MESH:D008607 C05.116.099/C563429|C10.597.606.360/C563429|C12.050.351.875.253.096.687/C563429|C12.050.351.875.253.309.388/C563429|C12.200.706.316.096.687/C563429|C12.200.706.316.309.388/C563429|C12.800.316.096.687/C563429|C12.800.316.309.388/C563429|C16.131.077/C563429|C16.131.939.316.096.687/C563429|C16.131.939.316.309.388/C563429|C19.391.119.096.687/C563429|C19.391.119.309.388/C563429|C23.550.393/C563429|C23.888.592.604.646/C563429|F03.625.539/C563429 C05.116.099|C10.597.606.360|C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.077|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Endocrine system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Agoraphobia MESH:D000379 DO:DOID:593 Obsessive, persistent, intense fear of places or situations from which escape might be difficult or embarrassing. MESH:D010698 F03.080.725.250 F03.080.725 Crowds Phobia|Open Spaces Phobia|Phobia, Crowds|Phobia, Open Spaces Mental disorder Agranulocytosis MESH:D000380 DO:DOID:12987 A decrease in the number of GRANULOCYTES; (BASOPHILS; EOSINOPHILS; and NEUTROPHILS). MESH:D007970 C15.378.553.546.184 C15.378.553.546 Agranulocytoses|Granulocytopenia|Granulocytopenias Blood disease Agraphia MESH:D000381 DO:DOID:0060223|DO:DOID:4540 Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies APHASIA. (From Adams et al., Principles of Neurology, 6th ed, p485; APA, Thesaurus of Psychological Index Terms, 1994) MESH:D007806 C10.597.606.150.500.050|C23.888.592.604.150.500.050 C10.597.606.150.500|C23.888.592.604.150.500 Acquired Agraphia|Acquired Agraphias|Acquired Dysgraphia|Acquired Dysgraphias|Agraphia, Acquired|Agraphia, Constructional|Agraphia, Developmental|Agraphia, Pure|Agraphias|Agraphias, Acquired|Agraphias, Constructional|Agraphias, Developmental|Agraphias, Pure|Constructional Agraphia|Constructional Agraphias|Developmental Agraphia|Developmental Agraphias|Developmental Dysgraphia|Developmental Dysgraphias|Dysgraphia|Dysgraphia, Acquired|Dysgraphia, Developmental|Dysgraphias|Dysgraphias, Acquired|Dysgraphias, Developmental|Pure Agraphia|Pure Agraphias Nervous system disease|Signs and symptoms Agricultural Workers' Diseases MESH:D000382 Diseases in persons engaged in cultivating and tilling soil, growing plants, harvesting crops, raising livestock, or otherwise engaged in husbandry and farming. The diseases are not restricted to farmers in the sense of those who perform conventional farm chores: the heading applies also to those engaged in the individual activities named above, as in those only gathering harvest or in those only dusting crops. MESH:D009784 C24.080 C24 Agricultural Worker Disease|Agricultural Worker Diseases|Agricultural Worker's Disease|Agricultural Workers Disease|Agricultural Workers' Disease|Agricultural Worker's Diseases|Agricultural Workers Diseases|Disease, Agricultural Worker|Disease, Agricultural Worker's|Disease, Agricultural Workers'|Diseases, Agricultural Worker|Diseases, Agricultural Worker's|Diseases, Agricultural Workers'|Worker Disease, Agricultural|Worker Diseases, Agricultural|Worker's Disease, Agricultural|Workers' Disease, Agricultural|Worker's Diseases, Agricultural|Workers' Diseases, Agricultural Occupational disease Aicardi-Goutieres syndrome MESH:C535607 OMIM:225750|OMIM:610181|OMIM:615010|OMIM:615846|OMIM:617397 MESH:D009421|MESH:D020274 C10.114/C535607|C10.500/C535607|C16.131.666/C535607|C20.111.258/C535607 C10.114|C10.500|C16.131.666|C20.111.258 AGS|AGS1|AGS2|AGS6|AGS7|Aicardi Goutieres syndrome|Aicardi-Goutieres Syndrome 1|Aicardi-Goutieres Syndrome 2|AICARDI-GOUTIERES SYNDROME 6|AICARDI-GOUTIERES SYNDROME 7|Cree Encephalitis|ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS|Encephalopathy with Basal Ganglia Calcification|Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis|Pseudo-TORCH syndrome|PSEUDO-TORCH SYNDROME 2|Pseudotoxoplasmosis syndrome|PSEUDOTOXOPLASMOSIS SYNDROME AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT, INCLUDED|PTORCH2 Congenital abnormality|Immune system disease|Nervous system disease Aicardi-Goutieres Syndrome 3 MESH:C563683 OMIM:610329 MESH:D009421|MESH:D020274 C10.114/C563683|C10.500/C563683|C16.131.666/C563683|C20.111.258/C563683 C10.114|C10.500|C16.131.666|C20.111.258 AGS3 Congenital abnormality|Immune system disease|Nervous system disease Aicardi-Goutieres Syndrome 4 MESH:C563681 OMIM:610333 MESH:D009421|MESH:D020274 C10.114/C563681|C10.500/C563681|C16.131.666/C563681|C20.111.258/C563681 C10.114|C10.500|C16.131.666|C20.111.258 AGS4 Congenital abnormality|Immune system disease|Nervous system disease Aicardi-Goutieres syndrome 5 MESH:C535608 OMIM:612952 MESH:D009421|MESH:D020274 C10.114/C535608|C10.500/C535608|C16.131.666/C535608|C20.111.258/C535608 C10.114|C10.500|C16.131.666|C20.111.258 AGS5|Aicardi-Goutieres syndrome, autosomal dominant Congenital abnormality|Immune system disease|Nervous system disease Aicardi Syndrome MESH:D058540 DO:DOID:8461|OMIM:304050 A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE. MESH:D000013|MESH:D015785|MESH:D040181|MESH:D061085 C10.500.034.687|C11.270.019|C16.131.162|C16.131.666.034.687|C16.320.290.019|C16.320.322.030 C10.500.034|C11.270|C16.131|C16.131.666.034|C16.320.290|C16.320.322 Agenesis of Corpus Callosum with Chorioretinal Abnormality|Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities|AIC|Aicardi's Syndrome|Callosal Agenesis and Ocular Abnormalities|Chorioretinal Anomalies with Acc|Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality|Syndrome, Aicardi|Syndrome, Aicardi's Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency MESH:C563876 OMIM:608688 MESH:D000013|MESH:D004827|MESH:D008607 C10.228.140.490/C563876|C10.597.606.360/C563876|C16.131/C563876|C23.888.592.604.646/C563876|F03.625.539/C563876 C10.228.140.490|C10.597.606.360|C16.131|C23.888.592.604.646|F03.625.539 AICA Ribosuria due to ATIC Deficiency|AICA-RIBOSURIA DUE TO ATIC DEFICIENCY|AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY|ATIC DEFICIENCY Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms AIDS Arteritis, Central Nervous System MESH:D020943 Inflammation of ARTERIES in the CENTRAL NERVOUS SYSTEM that occurs in patients with ACQUIRED IMMUNODEFICIENCY SYNDROME or AIDS-RELATED OPPORTUNISTIC INFECTIONS. MESH:D001167|MESH:D015658|MESH:D020293 C01.221.250.875.048|C01.221.812.640.400.048|C01.778.640.400.048|C01.925.782.815.616.400.048|C01.925.813.400.048|C10.114.875.175|C10.228.140.300.850.125|C12.100.937.640.400.048|C14.907.253.946.175|C14.907.940.090.170|C14.907.940.907.175|C20.673.480.048 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C10.114.875|C10.228.140.300.850|C12.100.937.640.400|C14.907.253.946|C14.907.940.090|C14.907.940.907|C20.673.480 AIDS Associated Cerebral Aneurysmal Arteriopathy|AIDS-Associated Cerebral Aneurysmal Arteriopathy|Central Nervous System AIDS Arteritis|Cerebral Aneurysmal Arteriopathy, AIDS Associated|Cerebral Aneurysmal Arteriopathy, AIDS-Associated|CNS Vasculitides, HIV-1-Associated|CNS Vasculitides, HIV-Associated|CNS Vasculitis, HIV-1-Associated|CNS Vasculitis, HIV Associated|CNS Vasculitis, HIV-Associated|HIV-1-Associated CNS Vasculitides|HIV 1 Associated CNS Vasculitis|HIV-1-Associated CNS Vasculitis|HIV-Associated CNS Vasculitides|HIV-Associated CNS Vasculitis|HIV Associated Vasculitis of the Central Nervous System|HIV-Associated Vasculitis of the Central Nervous System|Vasculitides, HIV-1-Associated CNS|Vasculitides, HIV-Associated CNS|Vasculitis, HIV-1-Associated CNS|Vasculitis, HIV-Associated CNS|Vasculitis of the Central Nervous System, HIV Associated|Vasculitis of the Central Nervous System, HIV-Associated Cardiovascular disease|Immune system disease|Nervous system disease|Viral disease AIDS-Associated Nephropathy MESH:D016263 Renal syndrome in human immunodeficiency virus-infected patients characterized by nephrotic syndrome, severe proteinuria, focal and segmental glomerulosclerosis with distinctive tubular and interstitial changes, enlarged kidneys, and peculiar tubuloreticular structures. The syndrome is distinct from heroin-associated nephropathy as well as other forms of kidney disease seen in HIV-infected patients. MESH:D007674|MESH:D015658 C01.221.250.875.050|C01.221.812.640.400.072|C01.778.640.400.072|C01.925.782.815.616.400.050|C01.925.813.400.072|C12.050.351.968.419.050|C12.100.937.640.400.072|C12.200.777.419.050|C12.950.419.050|C20.673.480.050 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C12.050.351.968.419|C12.100.937.640.400|C12.200.777.419|C12.950.419|C20.673.480 AIDS Associated Nephropathies|AIDS-Associated Nephropathies|AIDS Associated Nephropathy|AIDS Nephropathies|AIDS Nephropathy|HIV Associated Nephropathies|HIV-Associated Nephropathies|HIV Associated Nephropathy|HIV-Associated Nephropathy|HIV Related Nephropathies|HIV-Related Nephropathies|HIV Related Nephropathy|HIV-Related Nephropathy|Human Immunodeficiency Virus Associated Nephropathy|Human Immunodeficiency Virus-Associated Nephropathy|Nephropathies, AIDS|Nephropathies, AIDS Associated|Nephropathies, AIDS-Associated|Nephropathies, HIV Associated|Nephropathies, HIV-Associated|Nephropathies, HIV Related|Nephropathies, HIV-Related|Nephropathy, AIDS|Nephropathy, AIDS Associated|Nephropathy, AIDS-Associated|Nephropathy, HIV Associated|Nephropathy, HIV-Associated|Nephropathy, HIV Related|Nephropathy, HIV-Related Immune system disease|Urogenital disease (female)|Urogenital disease (male)|Viral disease AIDS Dementia Complex MESH:D015526 A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40) MESH:D003704|MESH:D015658 C01.221.250.875.049|C01.221.812.640.400.070|C01.778.640.400.070|C01.925.782.815.616.400.049|C01.925.813.400.070|C10.228.140.380.070|C12.100.937.640.400.070|C20.673.480.070|F03.615.400.050 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C10.228.140.380|C12.100.937.640.400|C20.673.480|F03.615.400 Acquired-Immune Deficiency Syndrome Dementia Complex|AIDS Encephalopathies|AIDS Encephalopathy|AIDS Related Dementia Complex|AIDS-Related Dementia Complex|Complex, AIDS Dementia|Complex, AIDS-Related Dementia|Dementia Complex, Acquired Immune Deficiency Syndrome|Dementia Complex, AIDS|Dementia Complex, AIDS Related|Dementia Complex, AIDS-Related|Dementia, HIV|Dementias, HIV|Encephalopathies, AIDS|Encephalopathies, HIV|Encephalopathy, AIDS|Encephalopathy, HIV|HIV 1 Associated Cognitive Motor Complex|HIV-1-Associated Cognitive Motor Complex|HIV 1 Cognitive and Motor Complex|HIV-1 Cognitive and Motor Complex|HIV Associated Cognitive Motor Complex|HIV-Associated Cognitive Motor Complex|HIV Dementia|HIV Dementias|HIV Encephalopathies|HIV Encephalopathy Immune system disease|Mental disorder|Nervous system disease|Viral disease AIDS-Related Complex MESH:D000386 A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating AIDS-related complex (ARC) from AIDS include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in AIDS; follicular or mixed hyperplasia in ARC lymph nodes, leading to lymphocyte degeneration and depletion more typical of AIDS; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown AIDS. MESH:D012897|MESH:D015658 C01.221.250.875.080|C01.221.812.640.400.080|C01.778.640.400.080|C01.925.782.815.616.400.080|C01.925.813.400.080|C01.925.839.080|C12.100.937.640.400.080|C20.673.480.080 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C01.925.839|C12.100.937.640.400|C20.673.480 AIDS Related Complex|ARC|Complex, AIDS-Related|Lymphadenopathy Syndrome|Lymphadenopathy Syndromes|Syndrome, Lymphadenopathy|Syndromes, Lymphadenopathy Immune system disease|Viral disease AIDS-related Kaposi sarcoma MESH:C554498 MESH:D012514|MESH:D017088 C01.221.250.875.100/C554498|C01.597.050/C554498|C01.925.256.466.860/C554498|C01.925.782.815.616.400.100/C554498|C04.557.450.795.850/C554498|C04.557.645.750/C554498|C20.673.480.100/C554498 C01.221.250.875.100|C01.597.050|C01.925.256.466.860|C01.925.782.815.616.400.100|C04.557.450.795.850|C04.557.645.750|C20.673.480.100 Cancer|Immune system disease|Viral disease AIDS-Related Opportunistic Infections MESH:D017088 Opportunistic infections found in patients who test positive for human immunodeficiency virus (HIV). The most common include PNEUMOCYSTIS PNEUMONIA, Kaposi's sarcoma, cryptosporidiosis, herpes simplex, toxoplasmosis, cryptococcosis, and infections with Mycobacterium avium complex, Microsporidium, and Cytomegalovirus. MESH:D009894|MESH:D015658 C01.221.250.875.100|C01.597.050|C01.925.782.815.616.400.100|C20.673.480.100 C01.221.250.875|C01.597|C01.925.782.815.616.400|C20.673.480 AIDS-Related Opportunistic Infection|AIDS Related Opportunistic Infections|HIV-Related Opportunistic Infection|HIV Related Opportunistic Infections|HIV-Related Opportunistic Infections|Infection, HIV-Related Opportunistic|Infections, HIV-Related Opportunistic|Opportunistic Infection, AIDS-Related|Opportunistic Infection, HIV-Related|Opportunistic Infections, AIDS Related|Opportunistic Infections, AIDS-Related|Opportunistic Infections, HIV Related|Opportunistic Infections, HIV-Related Immune system disease|Viral disease Ainhum MESH:D000387 DO:DOID:11329 Spontaneous autoamputation of the fourth or fifth toe. MESH:D001862 C05.116.264.143 C05.116.264 Dactylolyses, Spontaneous|Dactylolysis Spontanea|Dactylolysis, Spontaneous|Spontaneous Dactylolyses|Spontaneous Dactylolysis Musculoskeletal disease Air crescent sign MESH:C000721349 MESH:D008172 C01.150.703.534/C000721349|C01.748.435/C000721349|C08.381.472/C000721349|C08.730.435/C000721349 C01.150.703.534|C01.748.435|C08.381.472|C08.730.435 Air-crescent sign|Pulmonary air crescent sign|Pulmonary air meniscus sign|Pulmonary meniscus sign Bacterial infection or mycosis|Respiratory tract disease Airway Obstruction MESH:D000402 Any hindrance to the passage of air into and out of the lungs. MESH:D012131 C08.618.846.185 C08.618.846 Airway Obstructions|Choking|Obstruction, Airway|Obstructions, Airway Respiratory tract disease Airway Remodeling MESH:D056151 The structural changes in the number, mass, size and/or composition of the airway tissues. MESH:D020763 C23.300.017 C23.300 Airway Remodeling, Asthmatic|Airway Remodelings|Airway Remodelings, Asthmatic|Airway Remodeling, Small|Airway Remodelings, Small|Airway Remodelling|Airway Remodelling, Asthmatic|Airway Remodellings|Airway Remodellings, Asthmatic|Airway Remodelling, Small|Airway Remodellings, Small|Airway Wall Remodelling|Airway Wall Remodellings|Asthmatic Airway Remodeling|Asthmatic Airway Remodelings|Asthmatic Airway Remodelling|Asthmatic Airway Remodellings|Asthmatic Airway Wall Remodeling|Asthmatic Airway Wall Remodelling|Remodeling, Airway|Remodeling, Asthmatic Airway|Remodelings, Airway|Remodelings, Asthmatic Airway|Remodeling, Small Airway|Remodelings, Small Airway|Remodelling, Airway|Remodelling, Airway Wall|Remodelling, Asthmatic Airway|Remodellings, Airway|Remodellings, Airway Wall|Remodellings, Asthmatic Airway|Remodelling, Small Airway|Remodellings, Small Airway|Small Airway Remodeling|Small Airway Remodelings|Small Airway Remodelling|Small Airway Remodellings|Wall Remodelling, Airway|Wall Remodellings, Airway Pathology (anatomical condition) Akaba Hayasaka syndrome MESH:C535609 MESH:D010009 C05.116.099.708/C535609|C16.320.728/C535609 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Akathisia, Drug-Induced MESH:D017109 A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move. MESH:D009069|MESH:D011595|MESH:D020258|MESH:D064420 C10.228.662.037|C10.720.075|C23.888.592.350.600.500|C25.100.249|C25.723.705.100 C10.228.662|C10.720|C23.888.592.350.600|C25.100|C25.723.705 Acathisia, Drug Induced|Acathisia, Drug-Induced|Akathisia, Drug Induced|Akathisia, Tardive|Drug-Induced Acathisia|Drug Induced Akathisia|Drug-Induced Akathisia|Pseudoakathisia|Tardive Akathisia Nervous system disease|Signs and symptoms Akesson syndrome MESH:C535610 MESH:D008607|MESH:D012536|MESH:D013959 C10.597.606.360/C535610|C17.800.738/C535610|C19.874/C535610|C23.888.592.604.646/C535610|F03.625.539/C535610 C10.597.606.360|C17.800.738|C19.874|C23.888.592.604.646|F03.625.539 Cutis verticis gyrata, thyroaplasia and mental deficiency syndrome|Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation|Cutis verticis gyrata-thyroid aplasia-mental retardation syndrome Endocrine system disease|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Akinetic Mutism MESH:D000405 DO:DOID:4267 A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral FRONTAL LOBE dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67) MESH:D001927 C10.228.140.042 C10.228.140 Akinetic Autism|Akinetic Mutisms|Autism, Akinetic|Coma Vigil|Coma Vigilans|Mutism, Akinetic|Vigil, Coma|Vigils, Coma Nervous system disease Aksu von Stockhausen syndrome MESH:C535611 MESH:D000015 C16.131.077/C535611 C16.131.077 Hereditary branchial arch defects Congenital abnormality Alacrima MESH:C562827 MESH:D007766|MESH:D015785 C11.270/C562827|C11.496/C562827|C16.320.290/C562827 C11.270|C11.496|C16.320.290 Eye disease|Genetic disease (inborn) ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME OMIM:615510 DO:DOID:0112321 MESH:C536011|MESH:C562827|MESH:C566307|MESH:D008607 C06.405.117.119.500.432/C536011/615510|C10.597.606.360/615510|C11.270/C562827/615510|C11.270/C566307/615510|C11.496/C562827/615510|C11.496/C566307/615510|C16.320.290/C562827/615510|C16.320.290/C566307/615510|C23.888.592.604.646/615510|F03.625.539/615510 C06.405.117.119.500.432/C536011|C10.597.606.360|C11.270/C562827|C11.270/C566307|C11.496/C562827|C11.496/C566307|C16.320.290/C562827|C16.320.290/C566307|C23.888.592.604.646|F03.625.539 AAMR|ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME Digestive system disease|Eye disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Alacrima, Congenital MESH:C566307 MESH:D007766|MESH:D015785 C11.270/C566307|C11.496/C566307|C16.320.290/C566307 C11.270|C11.496|C16.320.290 Alacrimia Congenita Eye disease|Genetic disease (inborn) Alagille Syndrome MESH:D016738 DO:DOID:9245|OMIM:118450|OMIM:610205 A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). MESH:D000015|MESH:D002780|MESH:D006330|MESH:D030342 C06.130.120.135.250.125|C06.552.150.125|C14.240.400.044|C16.131.077.065|C16.131.240.400.044|C16.320.051 C06.130.120.135.250|C06.552.150|C14.240.400|C16.131.077|C16.131.240.400|C16.320 AHD|Alagille's Syndrome|Alagilles Syndrome|ALAGILLE SYNDROME|Alagille Syndrome 1|Alagille Syndrome 2|Alagille Watson Syndrome|Alagille-Watson Syndrome|ALGS|ALGS1|ALGS2|Arteriohepatic Dysplasia|Arteriohepatic Dysplasia (AHD)|AWS|Cardiovertebral Syndrome|Cholestasis with Peripheral Pulmonary Stenosis|Ductular Hypoplasia, Hepatic|Dysplasia, Arteriohepatic|Dysplasia, Arteriohepatic (AHD)|Hepatic Ductular Hypoplasia|Hepatic Ductular Hypoplasia, Syndromatic|Hepatofacioneurocardiovertebral Syndrome|Hypoplasia, Hepatic Ductular|Paucity of Interlobular Bile Ducts|Syndrome, Alagille|Syndrome, Alagille's|Syndrome, Alagille Watson|Syndrome, Alagille-Watson|Syndrome, Cardiovertebral|Syndrome, Hepatofacioneurocardiovertebral|Syndrome, Watson Alagille|syndrome, Watson-Miller|Syndrome, Watson Miller|Watson Alagille Syndrome|Watson-Miller syndrome|Watson Miller Syndrome Cardiovascular disease|Congenital abnormality|Digestive system disease|Genetic disease (inborn) Aland Island Eye Disease MESH:C562664 DO:DOID:0050630|OMIM:300600 MESH:D016117|MESH:D040181 C11.270.040.090/C562664|C16.320.290.040.090/C562664|C16.320.322/C562664|C16.320.565.100.102.090/C562664|C16.320.850.080.090/C562664|C17.800.621.440.102.090/C562664|C17.800.827.080.090/C562664|C18.452.648.100.102.090/C562664 C11.270.040.090|C16.320.290.040.090|C16.320.322|C16.320.565.100.102.090|C16.320.850.080.090|C17.800.621.440.102.090|C17.800.827.080.090|C18.452.648.100.102.090 AIED|Forsius-Eriksson Type Ocular Albinism Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus MESH:C565968 MESH:D000592|MESH:D003744|MESH:D003920|MESH:D004392|MESH:D008607|MESH:D008831 C05.116.099.343/C565968|C05.660.207.620/C565968|C07.650.800.295.625/C565968|C07.793.700.295.625/C565968|C10.500.507.400.500/C565968|C10.597.606.360/C565968|C16.131.621.207.620/C565968|C16.131.666.507.400.500/C565968|C16.131.850.800.295.625/C565968|C16.320.240/C565968|C16.320.565.100/C565968|C18.452.394.750/C565968|C18.452.648.100/C565968|C19.246/C565968|C19.297/C565968|C23.888.592.604.646/C565968|F03.625.539/C565968 C05.116.099.343|C05.660.207.620|C07.650.800.295.625|C07.793.700.295.625|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.850.800.295.625|C16.320.240|C16.320.565.100|C18.452.394.750|C18.452.648.100|C19.246|C19.297|C23.888.592.604.646|F03.625.539 Stimmler Syndrome Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Al Awadi syndrome MESH:C535612 OMIM:276820 MESH:D000568|MESH:D004480 C05.660.585.350/C535612|C16.131.621.585.350/C535612|C23.550.568.500/C535612 C05.660.585.350|C16.131.621.585.350|C23.550.568.500 AARRS|Al-Awadi-Raas-Rothschild Syndrome|AL-AWADI/RAAS-ROTHSCHILD SYNDROME|Al Awadi Rass Rothschild syndrome|Limb-Pelvis Hypoplasia-Aplasia syndrome|Limb-Pelvis-Hypoplasia-Aplasia Syndrome|LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME|LPHAS|Schinzel phocomelia syndrome|Ulna and fibula absence of with severe limb deficiency|Ulna And Fibula, Absence Of, With Severe Limb Deficiency Congenital abnormality|Musculoskeletal disease|Pathology (process) ALAZAMI SYNDROME OMIM:615071 MESH:D004393|MESH:D008607|MESH:D019465 C05.116.099.343.445/615071|C05.116.132.358/615071|C05.660.207/615071|C10.228.140.617.738.300.300/615071|C10.597.606.360/615071|C16.131.621.207/615071|C19.297.312/615071|C19.700.482.311/615071|C23.888.592.604.646/615071|F03.625.539/615071 C05.116.099.343.445|C05.116.132.358|C05.660.207|C10.228.140.617.738.300.300|C10.597.606.360|C16.131.621.207|C19.297.312|C19.700.482.311|C23.888.592.604.646|F03.625.539 ALAZS|FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM Congenital abnormality|Endocrine system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms ALAZAMI-YUAN SYNDROME OMIM:617126 MESH:D003456|MESH:D008607|MESH:D009123|MESH:D011596|MESH:D013285|MESH:D019465 C05.660.207/617126|C10.292.562.887/617126|C10.597.606.360/617126|C10.597.606.881/617126|C10.597.613.575/617126|C11.590.810/617126|C12.100.500.829.258/617126|C12.200.294.829.258/617126|C12.200.706.258/617126|C12.800.258/617126|C16.131.621.207/617126|C16.131.939.258/617126|C19.391.829.258/617126|C23.888.592.604.646/617126|C23.888.592.604.882/617126|C23.888.592.608.575/617126|F03.625.539/617126 C05.660.207|C10.292.562.887|C10.597.606.360|C10.597.606.881|C10.597.613.575|C11.590.810|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C16.131.621.207|C16.131.939.258|C19.391.829.258|C23.888.592.604.646|C23.888.592.604.882|C23.888.592.608.575|F03.625.539 ALYUS Congenital abnormality|Endocrine system disease|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (male) Albinism MESH:D000417 General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair. MESH:D000592|MESH:D012873|MESH:D015785|MESH:D017496 C11.270.040|C16.320.290.040|C16.320.565.100.102|C16.320.850.080|C17.800.621.440.102|C17.800.827.080|C18.452.648.100.102 C11.270|C16.320.290|C16.320.565.100|C16.320.850|C17.800.621.440|C17.800.827|C18.452.648.100 Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Albinism deafness syndrome MESH:C537042 OMIM:300700 MESH:D000417|MESH:D003638 C09.218.458.341.186/C537042|C10.597.751.418.341.186/C537042|C11.270.040/C537042|C16.320.290.040/C537042|C16.320.565.100.102/C537042|C16.320.850.080/C537042|C17.800.621.440.102/C537042|C17.800.827.080/C537042|C18.452.648.100.102/C537042|C23.888.592.763.393.341.186/C537042 C09.218.458.341.186|C10.597.751.418.341.186|C11.270.040|C16.320.290.040|C16.320.565.100.102|C16.320.850.080|C17.800.621.440.102|C17.800.827.080|C18.452.648.100.102|C23.888.592.763.393.341.186 ADFN|Albinism-Deafness Syndrome|ALDS Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease Albinism, minimal pigment type MESH:C537044 MESH:D016117 C11.270.040.090/C537044|C16.320.290.040.090/C537044|C16.320.565.100.102.090/C537044|C16.320.850.080.090/C537044|C17.800.621.440.102.090/C537044|C17.800.827.080.090/C537044|C18.452.648.100.102.090/C537044 C11.270.040.090|C16.320.290.040.090|C16.320.565.100.102.090|C16.320.850.080.090|C17.800.621.440.102.090|C17.800.827.080.090|C18.452.648.100.102.090 Oculocutaneous albinism, minimal pigment type Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Albinism, Ocular MESH:D016117 DO:DOID:0050633 Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. MESH:D000417 C11.270.040.090|C16.320.290.040.090|C16.320.565.100.102.090|C16.320.850.080.090|C17.800.621.440.102.090|C17.800.827.080.090|C18.452.648.100.102.090 C11.270.040|C16.320.290.040|C16.320.565.100.102|C16.320.850.080|C17.800.621.440.102|C17.800.827.080|C18.452.648.100.102 Ocular Albinism Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Albinism ocular late onset sensorineural deafness MESH:C537043 OMIM:300650 MESH:D006319|MESH:D016117 C09.218.458.341.887/C537043|C10.597.751.418.341.887/C537043|C11.270.040.090/C537043|C16.320.290.040.090/C537043|C16.320.565.100.102.090/C537043|C16.320.850.080.090/C537043|C17.800.621.440.102.090/C537043|C17.800.827.080.090/C537043|C18.452.648.100.102.090/C537043|C23.888.592.763.393.341.887/C537043 C09.218.458.341.887|C10.597.751.418.341.887|C11.270.040.090|C16.320.290.040.090|C16.320.565.100.102.090|C16.320.850.080.090|C17.800.621.440.102.090|C17.800.827.080.090|C18.452.648.100.102.090|C23.888.592.763.393.341.887 Albinism, Ocular, With Late-Onset Sensorineural Deafness|Albinism, Ocular, With Sensorineural Deafness|Deafness and ocular albinism|OASD|Ocular albinism with sensorineural deafness|Waardenburg Syndrome, Type Ii, With Ocular Albinism, Autosomal Recessive|Ws2-Oa Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease Albinism, Oculocutaneous MESH:D016115 DO:DOID:0050632 Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types. MESH:D000417 C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100 C11.270.040|C16.320.290.040|C16.320.565.100.102|C16.320.850.080|C17.800.621.440.102|C17.800.827.080|C18.452.648.100.102 Albinism, Tyrosinase Negative|Albinism, Tyrosinase-Negative|Albinism, Tyrosinase Positive|Albinism, Tyrosinase-Positive|Albinism, Yellow Mutant|Albinism, Yellow-Mutant|Mutant Albinisms, Yellow|Mutant Albinism, Yellow|Oculocutaneous Albinism|Tyrosinase-Negative Albinism|Tyrosinase-Positive Albinism|Yellow Mutant Albinism|Yellow-Mutant Albinism Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Albinism, Oculocutaneous, Type I, Temperature-Sensitive MESH:C564645 MESH:D016115 C11.270.040.545/C564645|C16.320.290.040.100/C564645|C16.320.565.100.102.100/C564645|C16.320.850.080.100/C564645|C17.800.621.440.102.100/C564645|C17.800.827.080.100/C564645|C18.452.648.100.102.100/C564645 C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100 OCA1TS Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease ALBINISM, OCULOCUTANEOUS, TYPE VII OMIM:615179 DO:DOID:0070100 MESH:D016115 C11.270.040.545/615179|C16.320.290.040.100/615179|C16.320.565.100.102.100/615179|C16.320.850.080.100/615179|C17.800.621.440.102.100/615179|C17.800.827.080.100/615179|C18.452.648.100.102.100/615179 C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100 OCA7 Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells MESH:C538539 OMIM:203300 MESH:D000417|MESH:D006474|MESH:D022861 C11.270.040.545.400/C538539|C11.270.040/C538539|C15.378.100.100.515/C538539|C15.378.100.685.400/C538539|C15.378.140.735.400/C538539|C15.378.463.735.400/C538539|C15.378.463/C538539|C16.320.099.515/C538539|C16.320.290.040.100.400/C538539|C16.320.290.040/C538539|C16.320.565.100.102.100.400/C538539|C16.320.565.100.102/C538539|C16.320.850.080.100.400/C538539|C16.320.850.080/C538539|C17.800.621.440.102.100.400/C538539|C17.800.621.440.102/C538539|C17.800.827.080.100.400/C538539|C17.800.827.080/C538539|C18.452.648.100.102.100.400/C538539|C18.452.648.100.102/C538539 C11.270.040|C11.270.040.545.400|C15.378.100.100.515|C15.378.100.685.400|C15.378.140.735.400|C15.378.463|C15.378.463.735.400|C16.320.099.515|C16.320.290.040|C16.320.290.040.100.400|C16.320.565.100.102|C16.320.565.100.102.100.400|C16.320.850.080|C16.320.850.080.100.400|C17.800.621.440.102|C17.800.621.440.102.100.400|C17.800.827.080|C17.800.827.080.100.400|C18.452.648.100.102|C18.452.648.100.102.100.400 ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS|Delta storage pool disease|HERMANSKY-PUDLAK SYNDROME 1|HPS1 Blood disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Albuminuria MESH:D000419 The presence of albumin in the urine, an indicator of KIDNEY DISEASES. MESH:D011507 C12.050.351.968.934.734.269|C12.200.777.934.734.269|C12.950.934.734.269|C23.888.942.750.269 C12.050.351.968.934.734|C12.200.777.934.734|C12.950.934.734|C23.888.942.750 Albuminurias Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Alcohol Amnestic Disorder MESH:D000425 A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139) MESH:D019973|MESH:D020268 C10.720.112.100|C25.723.705.150.100|C25.775.100.087.193.100|F03.900.100.050 C10.720.112|C25.723.705.150|C25.775.100.087.193|F03.900.100 Alcohol Amnestic Disorders|Alcohol Amnestic Syndrome|Alcohol Amnestic Syndromes|Alcohol-Induced Amnestic Psychoses|Alcohol Induced Amnestic Psychosis|Alcohol-Induced Amnestic Psychosis|Alcohol Induced Amnestic Syndrome|Alcohol-Induced Amnestic Syndrome|Alcohol-Induced Amnestic Syndromes|Alcohol-Induced Dysmnesic Psychoses|Alcohol Induced Dysmnesic Psychosis|Alcohol-Induced Dysmnesic Psychosis|Alcohol Induced Dysmnesic Syndrome|Alcohol-Induced Dysmnesic Syndrome|Alcohol-Induced Dysmnesic Syndromes|Alcohol Induced Persisting Amnestic Disorder|Alcohol-Induced Persisting Amnestic Disorder|Amnestic Disorder, Alcohol|Amnestic Psychoses, Alcohol-Induced|Amnestic Psychosis, Alcohol Induced|Amnestic Psychosis, Alcohol-Induced|Amnestic Syndrome, Alcohol-Induced|Amnestic Syndromes, Alcohol-Induced|Dysmnesic Psychoses, Alcohol-Induced|Dysmnesic Psychosis, Alcohol-Induced|Dysmnesic Syndrome, Alcohol-Induced|Dysmnesic Syndromes, Alcohol-Induced|Psychoses, Alcohol-Induced Amnestic|Psychoses, Alcohol-Induced Dysmnesic|Psychosis, Alcohol-Induced Amnestic|Psychosis, Alcohol-Induced Dysmnesic Mental disorder|Nervous system disease|Substance-related disorder Alcohol fetopathy MESH:C576203 MESH:D063647 C12.050.703.277.220/C576203|C16.300.070/C576203|C25.775.100.087.323/C576203 C12.050.703.277.220|C16.300.070|C25.775.100.087.323 Fetal disease|Pregnancy complication|Substance-related disorder Alcoholic Intoxication MESH:D000435 An acute brain syndrome which results from the excessive ingestion of ETHANOL or ALCOHOLIC BEVERAGES. MESH:D019973 C25.775.100.175|F03.900.100.300 C25.775.100|F03.900.100 Drunkenness|Drunkennesses|Intoxication, Alcoholic Mental disorder|Substance-related disorder Alcoholic Korsakoff Syndrome MESH:D000076042 A neurological disorder characterized by inattentiveness and the inability to form short term memories. It is caused by THIAMINE DEFICIENCY due to chronic ALCOHOLISM. MESH:D000425|MESH:D000647|MESH:D020915 C10.597.606.525.400.500|C10.720.112.100.250|C23.888.592.604.529.400.500|C25.723.705.150.100.250|C25.775.100.087.193.100.250|F03.615.200.131|F03.900.100.050.250 C10.597.606.525.400|C10.720.112.100|C23.888.592.604.529.400|C25.723.705.150.100|C25.775.100.087.193.100|F03.615.200|F03.900.100.050 Alcoholic Wernicke Korsakoff Syndrome|Alcoholic Wernicke-Korsakoff Syndrome|Alcohol Induced Korsakoff Syndrome|Alcohol-Induced Korsakoff Syndrome|Korsakoff Syndrome, Alcoholic|Korsakoff Syndrome, Alcohol-Induced|Wernicke-Korsakoff Syndrome, Alcoholic Mental disorder|Nervous system disease|Signs and symptoms|Substance-related disorder Alcoholic Neuropathy MESH:D020269 DO:DOID:14183 A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146) MESH:D011115|MESH:D020268 C10.668.829.800.050|C10.720.112.400|C25.723.705.150.400|C25.775.100.087.193.400 C10.668.829.800|C10.720.112|C25.723.705.150|C25.775.100.087.193 Alcoholic Axonal Neuropathies|Alcoholic Axonal Neuropathy|Alcoholic Neuropathies|Alcoholic Polyneuritides|Alcoholic Polyneuritis|Alcoholic Polyneuropathies|Alcoholic Polyneuropathy|Alcohol-Induced Peripheral Neuropathies|Alcohol Induced Peripheral Neuropathy|Alcohol-Induced Peripheral Neuropathy|Alcohol-Induced Polyneuropathies|Alcohol Induced Polyneuropathy|Alcohol-Induced Polyneuropathy|Alcohol-Related Autonomic Polyneuropathies|Alcohol Related Autonomic Polyneuropathy|Alcohol-Related Autonomic Polyneuropathy|Alcohol-Related Polyneuropathies|Alcohol Related Polyneuropathy|Alcohol-Related Polyneuropathy|Autonomic Polyneuropathies, Alcohol-Related|Autonomic Polyneuropathy, Alcohol-Related|Axonal Neuropathies, Alcoholic|Axonal Neuropathy, Alcoholic|Neuropathies, Alcoholic|Neuropathies, Alcoholic Axonal|Neuropathies, Alcohol-Induced Peripheral|Neuropathy, Alcoholic|Neuropathy, Alcoholic Axonal|Neuropathy, Alcohol-Induced Peripheral|Peripheral Neuropathies, Alcohol-Induced|Peripheral Neuropathy, Alcohol Induced|Peripheral Neuropathy, Alcohol-Induced|Polyneuritides, Alcoholic|Polyneuritis, Alcoholic|Polyneuropathies, Alcoholic|Polyneuropathies, Alcohol-Induced|Polyneuropathies, Alcohol-Related|Polyneuropathies, Alcohol-Related Autonomic|Polyneuropathy, Alcoholic|Polyneuropathy, Alcohol-Induced|Polyneuropathy, Alcohol-Related|Polyneuropathy, Alcohol-Related Autonomic Nervous system disease|Substance-related disorder Alcohol-Induced Disorders MESH:D020751 Disorders stemming from the misuse and abuse of alcohol. MESH:D019973 C25.775.100.087 C25.775.100 Alcohol-Induced Disorder|Alcohol Induced Disorders Substance-related disorder Alcohol-Induced Disorders, Nervous System MESH:D020268 Acute and chronic neurologic disorders associated with the various neurologic effects of ETHANOL. Primary sites of injury include the brain and peripheral nerves. MESH:D020258|MESH:D020751 C10.720.112|C25.723.705.150|C25.775.100.087.193 C10.720|C25.723.705|C25.775.100.087 Alcohol Abuse, Nervous System|Alcohol Induced Disorders, Nervous System|Ethanol Induced Disorders, Nervous System|Ethanol-Induced Disorders, Nervous System|Ethanol Induced Nervous System Disorders|Ethanol-Induced Nervous System Disorders|Ethyl Alcohol Abuse Neurologic Syndromes|Nervous System Disorders, Ethanol Induced|Nervous System Disorders, Ethanol-Induced Nervous system disease|Substance-related disorder Alcohol induced encephalopathy MESH:C538669 MESH:D000425 C10.720.112.100/C538669|C25.723.705.150.100/C538669|C25.775.100.087.193.100/C538669|F03.900.100.050/C538669 C10.720.112.100|C25.723.705.150.100|C25.775.100.087.193.100|F03.900.100.050 Korsakoff's amnesic syndrome|Transketolase defect Mental disorder|Nervous system disease|Substance-related disorder Alcoholism MESH:D000437 DO:DOID:1574|OMIM:103780 A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4) MESH:D019973 C25.775.100.250|F03.900.100.350 C25.775.100|F03.900.100 Abuse, Alcohol|Abuse, Ethanol|Addiction, Alcohol|AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST, INCLUDED|Alcohol Abuse|Alcohol Addiction|Alcohol Dependence|Alcoholic Intoxication, Chronic|ALCOHOLISM ALCOHOL DEPENDENCE, PROTECTION AGAINST, INCLUDED|Alcohol Use Disorder|Alcohol Use Disorders|Chronic Alcoholic Intoxication|Dependence, Alcohol|Ethanol Abuse|Intoxication, Chronic Alcoholic|Use Disorders, Alcohol Mental disorder|Substance-related disorder Alcohol-Related Disorders MESH:D019973 Disorders related to or resulting from abuse or misuse of alcohol. MESH:D019966 C25.775.100|F03.900.100 C25.775|F03.900 Alcohol Problem|Alcohol Problems|Alcohol-Related Disorder|Alcohol Related Disorders|Disorder, Alcohol-Related Mental disorder|Substance-related disorder ALCOHOL SENSITIVITY, ACUTE OMIM:610251 MESH:D019973 C25.775.100/610251|F03.900.100/610251 C25.775.100|F03.900.100 HANGOVER, SUSCEPTIBILITY TO, INCLUDED Mental disorder|Substance-related disorder Alcohol Withdrawal Delirium MESH:D000430 An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175) MESH:D013375|MESH:D019973|MESH:D020268 C10.720.112.200|C25.723.705.150.200|C25.775.100.087.193.200|C25.775.835.250|F03.900.100.100|F03.900.825.500 C10.720.112|C25.723.705.150|C25.775.100.087.193|C25.775.835|F03.900.100|F03.900.825 Alcohol Withdrawal Associated Autonomic Hyperactivity|Alcohol Withdrawal Hallucinosis|Alcohol Withdrawal Induced Delirium Tremens|Alcohol Withdrawal-Induced Delirium Tremens|Autonomic Hyperactivity, Alcohol Withdrawal Associated|Delirium, Alcohol Withdrawal|Delirium Tremens|Delirium Tremens, Alcohol Withdrawal Induced|Hallucinosis, Alcohol Withdrawal Mental disorder|Nervous system disease|Substance-related disorder Alcohol Withdrawal Seizures MESH:D020270 A condition where seizures occur in association with ethanol abuse (ALCOHOLISM) without other identifiable causes. Seizures usually occur within the first 6-48 hours after the cessation of alcohol intake, but may occur during periods of alcohol intoxication. Single generalized tonic-clonic motor seizures are the most common subtype, however, STATUS EPILEPTICUS may occur. (Adams et al., Principles of Neurology, 6th ed, p1174) MESH:D012640|MESH:D013375|MESH:D020268 C10.597.742.143|C10.720.112.300|C23.888.592.742.143|C25.723.705.150.300|C25.775.100.087.193.300|C25.775.835.500 C10.597.742|C10.720.112|C23.888.592.742|C25.723.705.150|C25.775.100.087.193|C25.775.835 Alcoholic Seizure|Alcoholic Seizures|Alcohol-Related Seizure|Alcohol Related Seizures|Alcohol-Related Seizures|Alcohol Withdrawal Induced Major Motor Seizure|Alcohol Withdrawal-Induced Major Motor Seizure|Alcohol Withdrawal Induced Seizure|Alcohol Withdrawal-Induced Seizure|Alcohol Withdrawal-Induced Seizures|Alcohol Withdrawal Induced Status Epilepticus|Alcohol Withdrawal-Induced Status Epilepticus|Alcohol Withdrawal Seizure|Major Motor Seizure, Alcohol Withdrawal-Induced|Seizure, Alcoholic|Seizure, Alcohol-Related|Seizure, Alcohol Withdrawal|Seizure, Alcohol Withdrawal-Induced|Seizures, Alcoholic|Seizures, Alcohol-Related|Seizures, Alcohol Withdrawal|Seizures, Alcohol Withdrawal-Induced|Status Epilepticus, Alcohol Withdrawal Induced|Status Epilepticus, Alcohol Withdrawal-Induced|Withdrawal-Induced Seizure, Alcohol|Withdrawal-Induced Seizures, Alcohol Nervous system disease|Signs and symptoms|Substance-related disorder Aldred syndrome MESH:C537046 MESH:D012174|MESH:D038901 C10.597.606.360.455/C537046|C11.270.684/C537046|C11.768.585.658.500/C537046|C16.320.290.684/C537046|C16.320.322.500/C537046|C16.320.400.525/C537046 C10.597.606.360.455|C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.322.500|C16.320.400.525 Nonspecific mental retardation associated with retinitis pigmentosa|X-linked mental handicap-retinitis pigmentosa syndrome Eye disease|Genetic disease (inborn)|Nervous system disease Alert Fatigue, Health Personnel MESH:D000071064 Mental fatigue experienced by health care providers who encounter numerous alerts and reminders from the use of CLINICAL DECISION SUPPORT SYSTEMS. As the numbers of alerts and reminders designed to provide meaningful assistance to the patient care process increases, many health personnel may ignore them. MESH:D005222 C23.888.369.500.250 C23.888.369.500 Alert Fatigue Health Personnel|Health Personnel Alert Fatigue Signs and symptoms Aleutian Mink Disease MESH:D000453 DO:DOID:2934 A slow progressive disease of mink caused by the ALEUTIAN MINK DISEASE VIRUS. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible. MESH:D000820|MESH:D002609|MESH:D010322|MESH:D012897 C01.925.256.700.091|C01.925.839.091|C11.270.040.772.270|C20.673.774.257.270|C22.062 C01.925.256.700|C01.925.839|C11.270.040.772|C20.673.774.257|C22 Aleutian Disease of Mink|Disease, Aleutian Mink|Mink Disease, Aleutian Animal disease|Eye disease|Immune system disease|Viral disease Alexander Disease MESH:D038261 DO:DOID:4252|OMIM:203450 Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance. MESH:D020271|MESH:D020279 C10.228.140.163.100.362.312|C10.228.140.695.625.312|C10.314.400.312|C10.574.500.024|C16.320.400.024|C16.320.565.189.362.312|C18.452.132.100.362.312|C18.452.648.189.362.312 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500|C16.320.400|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 Alexander's Disease|Alexanders Disease|ALXDRD|Demyelinogenic Leukodystrophy|Dysmyelinogenic Leukodystrophy|Fibrinoid Degeneration of Astrocytes|Leukodystrophy with Rosenthal Fibers Genetic disease (inborn)|Metabolic disease|Nervous system disease Alexanders leukodystrophy MESH:C531607 MESH:D038261 C10.228.140.163.100.362.312/C531607|C10.228.140.695.625.312/C531607|C10.314.400.312/C531607|C10.574.500.024/C531607|C16.320.400.024/C531607|C16.320.565.189.362.312/C531607|C18.452.132.100.362.312/C531607|C18.452.648.189.362.312/C531607 C10.228.140.163.100.362.312|C10.228.140.695.625.312|C10.314.400.312|C10.574.500.024|C16.320.400.024|C16.320.565.189.362.312|C18.452.132.100.362.312|C18.452.648.189.362.312 Genetic disease (inborn)|Metabolic disease|Nervous system disease Alexia, Pure MESH:D020237 Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483) MESH:D004411 C10.597.606.150.500.300.200.100|C23.888.592.604.150.500.300.200.100|F03.615.700.500 C10.597.606.150.500.300.200|C23.888.592.604.150.500.300.200|F03.615.700 Agnosias, Visual Verbal|Agnosia, Visual Verbal|Agraphia, Alexia Without|Agraphias, Alexia Without|Alexias, Pure|Alexia Syndrome Without Agraphia|Alexia Without Agraphia|Alexia Without Agraphias|Blindnesses, Pure Word|Blindness, Pure Word|Pure Alexia|Pure Alexias|Pure Alexia Without Agraphia|Pure Word Blindness|Pure Word Blindnesses|Verbal Agnosias, Visual|Verbal Agnosia, Visual|Visual Verbal Agnosia|Visual Verbal Agnosias|Without Agraphia, Alexia|Without Agraphias, Alexia|Word Blindnesses, Pure|Word Blindness, Pure Mental disorder|Nervous system disease|Signs and symptoms Al Gazali Aziz Salem syndrome MESH:C535613 MESH:D000015|MESH:D006330|MESH:D008607|MESH:D019066 C10.597.606.360/C535613|C14.240.400/C535613|C14.280.400/C535613|C16.131.077/C535613|C16.131.240.400/C535613|C23.550.291.812/C535613|C23.888.592.604.646/C535613|F03.625.539/C535613 C10.597.606.360|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C23.550.291.812|C23.888.592.604.646|F03.625.539 Cardiovascular disease|Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Al Gazali Hirschsprung syndrome MESH:C535615 MESH:D006627|MESH:D009260|MESH:D019066 C06.198.439/C535615|C06.405.469.158.701.439/C535615|C16.131.314.439/C535615|C17.800.529/C535615|C23.550.291.812/C535615 C06.198.439|C06.405.469.158.701.439|C16.131.314.439|C17.800.529|C23.550.291.812 Al Gazali Donnai Mueller syndrome|Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features|Hirschsprung's disease, hypoplastic nails, and dysmorphic facial features|Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features Congenital abnormality|Digestive system disease|Pathology (process)|Skin disease Al Gazali Khidr Prem Chandran syndrome MESH:C535616 MESH:D002636|MESH:D006130|MESH:D009896 C05.116.099.708.375.199/C535616|C05.500.174/C535616|C07.320.173/C535616|C10.292.700.225/C535616|C11.640.451/C535616|C16.131.621.207.540.170/C535616|C16.320.170/C535616|C23.550.393/C535616 C05.116.099.708.375.199|C05.500.174|C07.320.173|C10.292.700.225|C11.640.451|C16.131.621.207.540.170|C16.320.170|C23.550.393 Cherubism, optic atrophy and short stature Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process) Al Gazali Sabrinathan Nair syndrome MESH:C535617 MESH:D002658|MESH:D009896|MESH:D010013|MESH:D012164 C05.116.099.708.685/C535617|C10.292.700.225/C535617|C11.640.451/C535617|C11.768/C535617|C16.320.737/C535617|C17.300.200.540/C535617|F03.625.421/C535617 C05.116.099.708.685|C10.292.700.225|C11.640.451|C11.768|C16.320.737|C17.300.200.540|F03.625.421 Connective tissue disease|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease Al-Gazali Syndrome MESH:C536817 MESH:D000015 C16.131.077/C536817 C16.131.077 Congenital abnormality Alice in Wonderland Syndrome MESH:D062026 Neurological condition characterized by disturbances in VISUAL PERCEPTION, most often of BODY SCHEMA, TIME PERCEPTION and HALLUCINATIONS. It is associated with MIGRAINE, infections (e.g., INFECTIOUS MONONUCLEOSIS), FEVER, EPILEPSY, and other neurological and psychiatric disorders. MESH:D008881|MESH:D010468|MESH:D014786 C10.228.140.546.399.750.124|C10.597.606.762.150|C10.597.751.941.036|C23.888.592.604.764.150|C23.888.592.763.941.036 C10.228.140.546.399.750|C10.597.606.762|C10.597.751.941|C23.888.592.604.764|C23.888.592.763.941 Nervous system disease|Signs and symptoms Alien Limb Phenomenon MESH:D055964 An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex caused by stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration). MESH:D001072 C10.597.606.881.350.099|C23.888.592.604.882.350.099 C10.597.606.881.350|C23.888.592.604.882.350 Alien Hand Phenomenon|Alien Hand Phenomenons|Alien Hand Syndrome|Alien Hand Syndromes|Alien Leg Syndrome|Alien Leg Syndromes|Alien Limb Phenomenons|Alien Limb Syndrome|Alien Limb Syndromes|Anarchic Hand Syndrome|Anarchic Hand Syndromes|Phenomenon, Alien Hand|Phenomenon, Alien Limb|Syndrome, Alien Hand|Syndrome, Alien Leg|Syndrome, Alien Limb|Syndrome, Anarchic Hand Nervous system disease|Signs and symptoms Aliivibrio Infections MESH:D059707 Infections with bacteria of the genus ALIIVIBRIO. MESH:D016905 C01.150.252.400.050 C01.150.252.400 Aliivibrio Infection|Infection, Aliivibrio|Infections, Aliivibrio Bacterial infection or mycosis Alkalosis MESH:D000471 A pathological condition that removes acid or adds base to the body fluids. MESH:D000137 C18.452.076.354 C18.452.076 Alkaloses Metabolic disease Alkalosis, Respiratory MESH:D000472 A state due to excess loss of carbon dioxide from the body. (Dorland, 27th ed) MESH:D000471|MESH:D006985 C08.618.501.271|C18.452.076.354.271 C08.618.501|C18.452.076.354 Alkaloses, Respiratory|Respiratory Alkaloses|Respiratory Alkalosis Metabolic disease|Respiratory tract disease Alkaptonuria MESH:D000474 DO:DOID:9270|OMIM:203500 An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS. MESH:D000592 C16.320.565.100.187|C18.452.648.100.187 C16.320.565.100|C18.452.648.100 AKU|Alcaptonuria|Alcaptonurias|Homogentisic Acid Oxidase Deficiency|Homogentisic Acidura Genetic disease (inborn)|Metabolic disease Alkaptonuric ochronosis MESH:C531762 MESH:D000474|MESH:D009794 C16.320.565.100.187/C531762|C18.452.648.100.187/C531762|C23.550.744/C531762 C16.320.565.100.187|C18.452.648.100.187|C23.550.744 Exogenous ochronosis|Ocular ochronosis|Pseudo-ochronosis Genetic disease (inborn)|Metabolic disease|Pathology (process) Allan-Herndon-Dudley syndrome MESH:C537047 DO:DOID:0050631|OMIM:300523 MESH:D009123|MESH:D009133|MESH:D038901 C10.597.606.360.455/C537047|C10.597.613.575/C537047|C10.597.613.612/C537047|C16.320.322.500/C537047|C16.320.400.525/C537047|C23.300.070.500/C537047|C23.888.592.608.575/C537047|C23.888.592.608.612/C537047 C10.597.606.360.455|C10.597.613.575|C10.597.613.612|C16.320.322.500|C16.320.400.525|C23.300.070.500|C23.888.592.608.575|C23.888.592.608.612 AHDS|Allan-Herndon syndrome|Mct8 (Slc16a2)-Specific Thyroid Hormone Cell Transporter Deficiency|Mental retardation and muscular atrophy|Mental Retardation, X-Linked, With Hypotonia|Monocarboxylate transporter-8 deficiency|Monocarboxylate Transporter 8 Deficiency|Monocarboxylate Transporter 8 (Mct8) Deficiency|T3 Resistance|Triiodothyronine Resistance|X-linked mental retardation with hypotonia Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Allanson Pantzar McLeod syndrome MESH:C537048 MESH:D014564 C12.050.351.875/C537048|C12.200.706/C537048|C12.800/C537048|C16.131.939/C537048 C12.050.351.875|C12.200.706|C12.800|C16.131.939 Primitive renal tubule syndrome|Renal tubular dysgenesis|Renotubular dysgenesis Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Allergic Fungal Sinusitis MESH:D000092562 Fungal infection in the PARANASAL SINUSES characterized by common allergy respiratory symptoms, recurrent NASAL POLYPS and/or ASTHMA with buildup of allergic MUCIN. MESH:D009181|MESH:D012130|MESH:D012141|MESH:D012852 C01.150.703.040|C01.748.043|C01.748.749.134|C08.460.692.752.134|C08.674.028|C08.730.043|C08.730.749.134|C09.603.692.752.134|C20.543.480.680.038 C01.150.703|C01.748|C01.748.749|C08.460.692.752|C08.674|C08.730|C08.730.749|C09.603.692.752|C20.543.480.680 Allergic Aspergillus Sinusitides|Allergic Aspergillus Sinusitis|Allergic Fungal Rhinosinusitides|Allergic Fungal Rhinosinusitis|Allergic Fungal Sinusitides|Aspergillus Sinusitis, Allergic|Fungal Rhinosinusitis, Allergic|Fungal Sinusitis, Allergic|Rhinosinusitis, Allergic Fungal|Sinusitides, Allergic Fungal|Sinusitis, Allergic Aspergillus|Sinusitis, Allergic Fungal|Sphenoid Allergic Fungal Sinusitis Bacterial infection or mycosis|Ear-nose-throat disease|Immune system disease|Respiratory tract disease Allesthesia MESH:D066190 A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus. MESH:D010468 C10.597.606.762.175|C23.888.592.604.764.175 C10.597.606.762|C23.888.592.604.764 Allachesthesia|Allachesthesias|Allesthesias|Allochiria|Allochirias|Alloesthesia|Alloesthesias|Dyschiria|Dyschirias Nervous system disease|Signs and symptoms Aloi Tomasini Isaia syndrome MESH:C537049 MESH:D000848|MESH:D001478|MESH:D001851 C04.182.089.530.690.150/C537049|C04.557.470.200.165.150/C537049|C04.557.470.565.165.150/C537049|C04.700.175/C537049|C05.116.099.105/C537049|C05.116.198/C537049|C05.500.470.690.150/C537049|C07.320.450.670.130/C537049|C07.650.800.100/C537049|C07.793.700.100/C537049|C16.131.077.130/C537049|C16.131.850.800.100/C537049|C16.320.700.175/C537049|C18.452.104/C537049 C04.182.089.530.690.150|C04.557.470.200.165.150|C04.557.470.565.165.150|C04.700.175|C05.116.099.105|C05.116.198|C05.500.470.690.150|C07.320.450.670.130|C07.650.800.100|C07.793.700.100|C16.131.077.130|C16.131.850.800.100|C16.320.700.175|C18.452.104 Basal cell nevus, anodontia, abnormal bone mineralization Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Mouth disease|Musculoskeletal disease Alopecia MESH:D000505 DO:DOID:987|OMIM:109200 Absence of hair from areas where it is normally present. MESH:D007039|MESH:D020763 C17.800.329.937.122|C23.300.035 C17.800.329.937|C23.300 AGA1|Alopecia, Androgenetic|ALOPECIA, ANDROGENETIC, 1|Alopecia, Androgenic|Alopecia Cicatrisata|Alopecia Cicatrisatas|Alopecia, Male Pattern|Alopecias, Androgenic|Androgenetic Alopecia|ANDROGENETIC ALOPECIA;AGA BALDNESS, MALE PATTERN, INCLUDED|Androgenic Alopecia|Androgenic Alopecias|Baldness|Baldness, Female Pattern|Baldness, Male Pattern|Baldness, Pattern|Female Pattern Baldness|Hair Loss|Hair Losses|Losses, Hair|Loss, Hair|Male Pattern Alopecia|Male Pattern Baldness|MPB, INCLUDED|Pattern Baldness|Pseudopelade Pathology (anatomical condition)|Skin disease Alopecia, Androgenetic, 2 MESH:C567473 OMIM:300710 MESH:D000505 C17.800.329.937.122/C567473|C23.300.035/C567473 C17.800.329.937.122|C23.300.035 AGA2 Pathology (anatomical condition)|Skin disease Alopecia, Androgenetic, 3 MESH:C567317 OMIM:612421 MESH:D000505 C17.800.329.937.122/C567317|C23.300.035/C567317 C17.800.329.937.122|C23.300.035 AGA3 Pathology (anatomical condition)|Skin disease Alopecia Areata MESH:D000506 DO:DOID:986 Loss of scalp and body hair involving microscopically inflammatory patchy areas. MESH:D000505 C17.800.329.937.122.147 C17.800.329.937.122 Alopecia Circumscripta Skin disease Alopecia Areata 1 MESH:C566303 OMIM:104000 MESH:D000506 C17.800.329.937.122.147/C566303 C17.800.329.937.122.147 AA1|ALOPECIA UNIVERSALIS, INCLUDED|AU, INCLUDED Skin disease Alopecia Areata 2 MESH:C565186 OMIM:610753 MESH:D000506 C17.800.329.937.122.147/C565186 C17.800.329.937.122.147 AA2 Skin disease Alopecia congenita keratosis palmoplantaris MESH:C537050 DO:DOID:0111244 MESH:D000505|MESH:D007645 C16.320.850.475/C537050|C17.800.329.937.122/C537050|C17.800.428.435/C537050|C17.800.827.475/C537050|C23.300.035/C537050 C16.320.850.475|C17.800.329.937.122|C17.800.428.435|C17.800.827.475|C23.300.035 Alopecia congenita with hyperkeratosis of the palms and soles|Alopecia Congenita With Keratosis Palmoplantaris Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease Alopecia contractures dwarfism mental retardation MESH:C537051 MESH:D000505|MESH:D003286|MESH:D004392|MESH:D008607 C05.116.099.343/C537051|C05.550.323/C537051|C05.651.197/C537051|C10.597.606.360/C537051|C16.320.240/C537051|C17.800.329.937.122/C537051|C19.297/C537051|C23.300.035/C537051|C23.888.592.604.646/C537051|F03.625.539/C537051 C05.116.099.343|C05.550.323|C05.651.197|C10.597.606.360|C16.320.240|C17.800.329.937.122|C19.297|C23.300.035|C23.888.592.604.646|F03.625.539 ACD Mental Retardation Syndrome|Alopecia-contractures-dwarfism mental retardation syndrome Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Alopecia epilepsy oligophrenia syndrome of Moynahan MESH:C537052 MESH:D000505|MESH:D004827|MESH:D008607 C10.228.140.490/C537052|C10.597.606.360/C537052|C17.800.329.937.122/C537052|C23.300.035/C537052|C23.888.592.604.646/C537052|F03.625.539/C537052 C10.228.140.490|C10.597.606.360|C17.800.329.937.122|C23.300.035|C23.888.592.604.646|F03.625.539 Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan|Moynahan alopecia syndrome Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Alopecia, epilepsy, pyorrhea, mental subnormality MESH:C537057 MESH:D000505|MESH:D004827|MESH:D008607|MESH:D019465 C05.660.207/C537057|C10.228.140.490/C537057|C10.597.606.360/C537057|C16.131.621.207/C537057|C17.800.329.937.122/C537057|C23.300.035/C537057|C23.888.592.604.646/C537057|F03.625.539/C537057 C05.660.207|C10.228.140.490|C10.597.606.360|C16.131.621.207|C17.800.329.937.122|C23.300.035|C23.888.592.604.646|F03.625.539 Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality|Congenital universal alopecia, epilepsy, mental subnormality and pyorrhea|Shokeir syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Alopecia, Familial Focal MESH:C566301 MESH:D000505 C17.800.329.937.122/C566301|C23.300.035/C566301 C17.800.329.937.122|C23.300.035 Pathology (anatomical condition)|Skin disease Alopecia hypogonadism extrapyramidal disorder MESH:C537053 MESH:D000505|MESH:D001480|MESH:D007006 C10.228.140.079/C537053|C17.800.329.937.122/C537053|C19.391.482/C537053|C23.300.035/C537053 C10.228.140.079|C17.800.329.937.122|C19.391.482|C23.300.035 Progressive extrapyramidal disorder with primary hypogonadism and alopecia Endocrine system disease|Nervous system disease|Pathology (anatomical condition)|Skin disease ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 3 OMIM:613930 DO:DOID:0080951 MESH:D000505|MESH:D008607 C10.597.606.360/613930|C17.800.329.937.122/613930|C23.300.035/613930|C23.888.592.604.646/613930|F03.625.539/613930 C10.597.606.360|C17.800.329.937.122|C23.300.035|C23.888.592.604.646|F03.625.539 ALOPECIA-MENTAL RETARDATION SYNDROME 3|APMR3 Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Alopecia-Mental Retardation Syndrome 2 MESH:C563668 DO:DOID:0080629|OMIM:610422 MESH:D000505|MESH:D008607 C10.597.606.360/C563668|C17.800.329.937.122/C563668|C23.300.035/C563668|C23.888.592.604.646/C563668|F03.625.539/C563668 C10.597.606.360|C17.800.329.937.122|C23.300.035|C23.888.592.604.646|F03.625.539 ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 2|ALOPECIA-MENTAL RETARDATION SYNDROME 2|APMR2 Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism MESH:C563370 MESH:D000505|MESH:D007006|MESH:D008607|MESH:D012640 C10.597.606.360/C563370|C10.597.742/C563370|C17.800.329.937.122/C563370|C19.391.482/C563370|C23.300.035/C563370|C23.888.592.604.646/C563370|C23.888.592.742/C563370|F03.625.539/C563370 C10.597.606.360|C10.597.742|C17.800.329.937.122|C19.391.482|C23.300.035|C23.888.592.604.646|C23.888.592.742|F03.625.539 Endocrine system disease|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome MESH:C567425 DO:DOID:0112244|OMIM:612079 MESH:D000505|MESH:D004700|MESH:D008607 C10.597.606.360/C567425|C17.800.329.937.122/C567425|C19/C567425|C23.300.035/C567425|C23.888.592.604.646/C567425|F03.625.539/C567425 C10.597.606.360|C17.800.329.937.122|C19|C23.300.035|C23.888.592.604.646|F03.625.539 ANES|ANE Syndrome Endocrine system disease|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Alopecia universalis MESH:C537055 DO:DOID:0050634|OMIM:203655 MESH:D000505 C17.800.329.937.122/C537055|C23.300.035/C537055 C17.800.329.937.122|C23.300.035 Alopecia universalis congenita|ALUNC|ALUNC Alopecia universalis congenitalis|Atrichia, Generalized|Generalized Atrichia Pathology (anatomical condition)|Skin disease Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia MESH:C563920 MESH:D000505|MESH:D006061|MESH:D055092 C05.182.310/C563920|C08.360.563/C563920|C09.400.563/C563920|C12.050.351.875.253.096.687/C563920|C12.050.351.875.253.309.388/C563920|C12.200.706.316.096.687/C563920|C12.200.706.316.309.388/C563920|C12.800.316.096.687/C563920|C12.800.316.309.388/C563920|C16.131.621.568/C563920|C16.131.939.316.096.687/C563920|C16.131.939.316.309.388/C563920|C17.300.182.310/C563920|C17.800.329.937.122/C563920|C19.391.119.096.687/C563920|C19.391.119.309.388/C563920|C23.300.035/C563920 C05.182.310|C08.360.563|C09.400.563|C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.621.568|C16.131.939.316.096.687|C16.131.939.316.309.388|C17.300.182.310|C17.800.329.937.122|C19.391.119.096.687|C19.391.119.309.388|C23.300.035 Congenital abnormality|Connective tissue disease|Ear-nose-throat disease|Endocrine system disease|Musculoskeletal disease|Pathology (anatomical condition)|Respiratory tract disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) Alopecia universalis onychodystrophy vitiligo MESH:C537056 MESH:D000505|MESH:D009264|MESH:D014820 C17.800.329.937.122/C537056|C17.800.621.440.895/C537056|C23.300.035/C537056|C23.300.820/C537056 C17.800.329.937.122|C17.800.621.440.895|C23.300.035|C23.300.820 Alopecia universalis, onychodystrophy, and total vitiligo Pathology (anatomical condition)|Skin disease alpha 1-Antitrypsin Deficiency MESH:D019896 DO:DOID:13372|OMIM:613490 Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS. MESH:D008107|MESH:D008171|MESH:D013352|MESH:D030342 C06.552.074|C08.381.112|C16.320.060|C23.550.325.500.500 C06.552|C08.381|C16.320|C23.550.325.500 A1ATD|alpha 1-Antitrypsin Deficiencies|alpha 1 Antitrypsin Deficiency|ALPHA-1-ANTITRYPSIN DEFICIENCY|Deficiencies, alpha 1-Antitrypsin|Deficiency, alpha 1-Antitrypsin Digestive system disease|Genetic disease (inborn)|Pathology (process)|Respiratory tract disease alpha-1-Antitrypsin Deficiency, Autosomal Recessive MESH:C566273 MESH:D019896 C06.552.074/C566273|C08.381.112/C566273|C16.320.060/C566273|C23.550.325.500.500/C566273 C06.552.074|C08.381.112|C16.320.060|C23.550.325.500.500 Alpha-1 Protease Inhibitor Deficiency|Alpha-1 Related Emphysema|Genetic Emphysema|Hereditary Pulmonary Emphysema|Inherited Emphysema Digestive system disease|Genetic disease (inborn)|Pathology (process)|Respiratory tract disease Alpha-2-Deficient Collagen Disease MESH:C565963 MESH:D003240|MESH:D030342 C16.320/C565963|C17.300/C565963 C16.320|C17.300 Meigel Disease Connective tissue disease|Genetic disease (inborn) alpha-2-Macroglobulin Deficiency MESH:C566304 OMIM:614036 MESH:D008171 C08.381/C566304 C08.381 A2MD Respiratory tract disease ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA OMIM:204750 DO:DOID:0111453 MESH:D000592 C16.320.565.100/204750|C18.452.648.100/204750 C16.320.565.100|C18.452.648.100 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA|2-KETOADIPIC ACIDURIA|AAKAD|AMOXAD Genetic disease (inborn)|Metabolic disease Alpha-B Crystallinopathy MESH:C563848 OMIM:608810 MESH:D002386|MESH:D009135|MESH:D009202 C05.651/C563848|C10.668.491/C563848|C11.510.245/C563848|C14.280.238/C563848 C05.651|C10.668.491|C11.510.245|C14.280.238 ALPHA-B CRYSTALLINOPATHY|MFM2|Myopathy, Cardioskeletal, Desmin-Related, with Cataract|Myopathy, Desmin-Related, associated with Mutation in the CRYAB Gene|MYOPATHY, MYOFIBRILLAR, 2|Myopathy, Myofibrillar, Alpha-B Crystallin-Related|MYOPATHY, MYOFIBRILLAR, WITH OR WITHOUT CATARACT AND/OR CARDIOMYOPATHY Cardiovascular disease|Eye disease|Musculoskeletal disease|Nervous system disease Alpha-B Crystallinopathy with Cataract MESH:C563849 MESH:D002386|MESH:D009136 C05.651.534.500/C563849|C10.668.491.175.500/C563849|C11.510.245/C563849|C16.320.577/C563849 C05.651.534.500|C10.668.491.175.500|C11.510.245|C16.320.577 Desmin-Related Myopathy with Cataract Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Alpha-Beta T-Cell Lymphopenia with Gamma-Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity MESH:C563691 OMIM:609889 MESH:D001327|MESH:D003586|MESH:D008231 C01.925.256.466.245/C563691|C15.378.553.546.605/C563691|C20.111/C563691|C20.673.627/C563691 C01.925.256.466.245|C15.378.553.546.605|C20.111|C20.673.627 ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY Blood disease|Immune system disease|Viral disease alpha-Fetoprotein Deficiency MESH:C566300 OMIM:615969 MESH:D008661 C16.320.565/C566300|C18.452.648/C566300 C16.320.565|C18.452.648 AFPD Genetic disease (inborn)|Metabolic disease Alpha-ketoglutarate dehydrogenase deficiency MESH:C536582 OMIM:203740 MESH:D000592 C16.320.565.100/C536582|C18.452.648.100/C536582 C16.320.565.100|C18.452.648.100 2 alpha ketoglutarate dehydrogenase deficiency|2-Ketoglutarate Dehydrogenase Deficiency|ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY|ALPHA-KGD DEFICIENCY|OGDHD|OXOGLUTARATE DEHYDROGENASE DEFICIENCY|Oxoglutaricaciduria|Oxoglutaric Aciduria Genetic disease (inborn)|Metabolic disease alpha-Mannosidosis MESH:D008363 DO:DOID:3413|OMIM:248500 An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. MESH:D044904 C16.320.565.202.607.500|C16.320.565.595.577.500|C18.452.648.202.607.500|C18.452.648.595.577.500 C16.320.565.202.607|C16.320.565.595.577|C18.452.648.202.607|C18.452.648.595.577 alpha-D-Mannosidase Deficiencies, Lysosomal|alpha-D-Mannosidase Deficiency, Lysosomal|Alpha-D-Mannosidosis|alpha Mannosidase B Deficiency|Alpha-Mannosidase B Deficiency|alpha-Mannosidase Deficiencies|alpha Mannosidase Deficiency|alpha-Mannosidase Deficiency|alpha-Mannosidoses|alpha Mannosidosis|ALPHA-MANNOSIDOSIS|Alpha-Mannosidosis, Type I|Deficiencies, alpha-Mannosidase|Deficiencies, Lysosomal alpha-D-Mannosidase|Deficiency, alpha-Mannosidase|Deficiency, Lysosomal alpha-D-Mannosidase|Lysosomal Alpha B Mannosidosis|Lysosomal alpha-D-Mannosidase Deficiencies|Lysosomal alpha D Mannosidase Deficiency|Lysosomal alpha-D-Mannosidase Deficiency|Mannosidosis, alpha B Lysosomal|Mannosidosis, alpha B, Lysosomal|MANSA Genetic disease (inborn)|Metabolic disease Alpha-mannosidosis type 1 MESH:C536584 MESH:D008363 C16.320.565.202.607.500/C536584|C16.320.565.595.577.500/C536584|C18.452.648.202.607.500/C536584|C18.452.648.595.577.500/C536584 C16.320.565.202.607.500|C16.320.565.595.577.500|C18.452.648.202.607.500|C18.452.648.595.577.500 Genetic disease (inborn)|Metabolic disease Alpha-mannosidosis, type 2 MESH:C536585 MESH:D008363 C16.320.565.202.607.500/C536585|C16.320.565.595.577.500/C536585|C18.452.648.202.607.500/C536585|C18.452.648.595.577.500/C536585 C16.320.565.202.607.500|C16.320.565.595.577.500|C18.452.648.202.607.500|C18.452.648.595.577.500 Alpha-mannosidosis, adult-onset form Genetic disease (inborn)|Metabolic disease alpha-Mannosidosis, Type II MESH:C565418 MESH:D008363 C16.320.565.202.607.500/C565418|C16.320.565.595.577.500/C565418|C18.452.648.202.607.500/C565418|C18.452.648.595.577.500/C565418 C16.320.565.202.607.500|C16.320.565.595.577.500|C18.452.648.202.607.500|C18.452.648.595.577.500 Genetic disease (inborn)|Metabolic disease Alpha-Methylacyl-CoA Racemase Deficiency MESH:C565768 DO:DOID:0060602|OMIM:614307 MESH:D008052|MESH:D009422 C10/C565768|C16.320.565.398/C565768|C18.452.584.563/C565768|C18.452.648.398/C565768 C10|C16.320.565.398|C18.452.584.563|C18.452.648.398 AMACRD|AMACR DEFICIENCY Genetic disease (inborn)|Metabolic disease|Nervous system disease alpha-Thalassemia MESH:D017085 DO:DOID:1099|OMIM:604131|OMIM:613978 A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. MESH:D013789 C15.378.071.141.150.875.100|C15.378.420.826.100|C16.320.070.875.100|C16.320.365.826.100 C15.378.071.141.150.875|C15.378.420.826|C16.320.070.875|C16.320.365.826 Alpha Thalassemia|ALPHA-THALASSEMIA, HEMOGLOBIN H TYPE|alpha-Thalassemias|A-Thalassemia|Disease, Hemoglobin H|HBH|Hemoglobin H Disease|HEMOGLOBIN H DISEASE, DELETIONAL HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED|Thalassemia alpha|Thalassemia-alpha|Thalassemia, Alpha Blood disease|Genetic disease (inborn) Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type MESH:C563050 OMIM:141750 MESH:D008607|MESH:D017085 C10.597.606.360/C563050|C15.378.071.141.150.875.100/C563050|C15.378.420.826.100/C563050|C16.320.070.875.100/C563050|C16.320.365.826.100/C563050|C23.888.592.604.646/C563050|F03.625.539/C563050 C10.597.606.360|C15.378.071.141.150.875.100|C15.378.420.826.100|C16.320.070.875.100|C16.320.365.826.100|C23.888.592.604.646|F03.625.539 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, DELETION TYPE|ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED|ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE|ATR-16 Syndrome|ATR, DELETION-TYPE|CHROMOSOME 16p DELETION SYNDROME|HBHR|Hemoglobin H-Related Mental Retardation|Mental Retardation with Hemoglobin H Blood disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Alpha-Thalassemia Myelodysplasia Syndrome MESH:C563023 DO:DOID:0112125|OMIM:300448 MESH:D009190|MESH:D017085|MESH:D040181 C15.378.071.141.150.875.100/C563023|C15.378.190.625/C563023|C15.378.420.826.100/C563023|C16.320.070.875.100/C563023|C16.320.322/C563023|C16.320.365.826.100/C563023 C15.378.071.141.150.875.100|C15.378.190.625|C15.378.420.826.100|C16.320.070.875.100|C16.320.322|C16.320.365.826.100 ATMDS|Hemoglobin H Disease, Acquired Blood disease|Genetic disease (inborn) Alphavirus Infections MESH:D018354 Virus diseases caused by members of the ALPHAVIRUS genus of the family TOGAVIRIDAE. MESH:D001102|MESH:D014036 C01.920.500.078|C01.925.782.930.100 C01.920.500|C01.925.782.930 Alphavirus Infection|Alpha Virus Infection|Alpha Virus Infections|Barmah Forest Virus Infection|Infection, Alphavirus|Infection, Mayaro Virus|Infection, O'nyong-nyong Virus|Infections, Alphavirus|Mayaro Virus Infection|Mayaro Virus Infections|O'nyong nyong Virus Infection|O'nyong-nyong Virus Infection|O'nyong-nyong Virus Infections|Ross River Virus Infection|Virus Infection, Alpha|Virus Infection, Mayaro|Virus Infection, O'nyong-nyong Viral disease ALPORT SYNDROME 1, X-LINKED OMIM:301050 DO:DOID:0110034 MESH:D003638|MESH:D009394 C09.218.458.341.186/301050|C10.597.751.418.341.186/301050|C12.050.351.875.742/301050|C12.050.351.968.419.570.620/301050|C12.200.706.742/301050|C12.200.777.419.570.620/301050|C12.800.742/301050|C12.950.419.570.620/301050|C16.131.939.742/301050|C17.300.200.517/301050|C23.888.592.763.393.341.186/301050 C09.218.458.341.186|C10.597.751.418.341.186|C12.050.351.875.742|C12.050.351.968.419.570.620|C12.200.706.742|C12.200.777.419.570.620|C12.800.742|C12.950.419.570.620|C16.131.939.742|C17.300.200.517|C23.888.592.763.393.341.186 ATS|ATS1|NEPHROPATHY AND DEAFNESS, X-LINKED Congenital abnormality|Connective tissue disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Alport syndrome, dominant type MESH:C536586 OMIM:104200 MESH:D009394 C12.050.351.875.742/C536586|C12.050.351.968.419.570.620/C536586|C12.200.706.742/C536586|C12.200.777.419.570.620/C536586|C12.800.742/C536586|C12.950.419.570.620/C536586|C16.131.939.742/C536586|C17.300.200.517/C536586 C12.050.351.875.742|C12.050.351.968.419.570.620|C12.200.706.742|C12.200.777.419.570.620|C12.800.742|C12.950.419.570.620|C16.131.939.742|C17.300.200.517 ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT|ATS3A|Renal failure, and sensorineural hearing loss Congenital abnormality|Connective tissue disease|Urogenital disease (female)|Urogenital disease (male) Alport Syndrome-Like Hereditary Nephritis MESH:C562890 MESH:D009394 C12.050.351.875.742/C562890|C12.050.351.968.419.570.620/C562890|C12.200.706.742/C562890|C12.200.777.419.570.620/C562890|C12.800.742/C562890|C12.950.419.570.620/C562890|C16.131.939.742/C562890|C17.300.200.517/C562890 C12.050.351.875.742|C12.050.351.968.419.570.620|C12.200.706.742|C12.200.777.419.570.620|C12.800.742|C12.950.419.570.620|C16.131.939.742|C17.300.200.517 Congenital abnormality|Connective tissue disease|Urogenital disease (female)|Urogenital disease (male) Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis MESH:C564570 DO:DOID:0111860|OMIM:300194 MESH:D004612|MESH:D008607|MESH:D009394|MESH:D019465|MESH:D040181 C05.660.207/C564570|C10.597.606.360/C564570|C12.050.351.875.742/C564570|C12.050.351.968.419.570.620/C564570|C12.200.706.742/C564570|C12.200.777.419.570.620/C564570|C12.800.742/C564570|C12.950.419.570.620/C564570|C15.378.071.141.150.365/C564570|C16.131.621.207/C564570|C16.131.939.742/C564570|C16.320.070.365/C564570|C16.320.322/C564570|C17.300.200.517/C564570|C23.888.592.604.646/C564570|F03.625.539/C564570 C05.660.207|C10.597.606.360|C12.050.351.875.742|C12.050.351.968.419.570.620|C12.200.706.742|C12.200.777.419.570.620|C12.800.742|C12.950.419.570.620|C15.378.071.141.150.365|C16.131.621.207|C16.131.939.742|C16.320.070.365|C16.320.322|C17.300.200.517|C23.888.592.604.646|F03.625.539 ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS|AMME Complex|ATS-MR|CHROMOSOME Xq22.3 TELOMERIC DELETION SYNDROME Blood disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Alport syndrome, recessive type MESH:C536587 OMIM:203780 MESH:D009394 C12.050.351.875.742/C536587|C12.050.351.968.419.570.620/C536587|C12.200.706.742/C536587|C12.200.777.419.570.620/C536587|C12.800.742/C536587|C12.950.419.570.620/C536587|C16.131.939.742/C536587|C17.300.200.517/C536587 C12.050.351.875.742|C12.050.351.968.419.570.620|C12.200.706.742|C12.200.777.419.570.620|C12.800.742|C12.950.419.570.620|C16.131.939.742|C17.300.200.517 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE|ATS2 Congenital abnormality|Connective tissue disease|Urogenital disease (female)|Urogenital disease (male) AL-RAQAD SYNDROME OMIM:616459 MESH:D008607|MESH:D008831|MESH:D009123|MESH:D011596 C05.660.207.620/616459|C10.500.507.400.500/616459|C10.597.606.360/616459|C10.597.606.881/616459|C10.597.613.575/616459|C16.131.621.207.620/616459|C16.131.666.507.400.500/616459|C23.888.592.604.646/616459|C23.888.592.604.882/616459|C23.888.592.608.575/616459|F03.625.539/616459 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C10.597.606.881|C10.597.613.575|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.604.646|C23.888.592.604.882|C23.888.592.608.575|F03.625.539 ARS Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Alsing syndrome MESH:C536588 MESH:D003103|MESH:D007674 C11.250.110/C536588|C11.270.147/C536588|C12.050.351.968.419/C536588|C12.200.777.419/C536588|C12.950.419/C536588|C16.131.384.282/C536588 C11.250.110|C11.270.147|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.384.282 Congenital abnormality|Eye disease|Urogenital disease (female)|Urogenital disease (male) Alstrom Syndrome MESH:D056769 DO:DOID:0050473|OMIM:203800 Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene. MESH:D000072661|MESH:D012174|MESH:D015417 C10.500.300.099|C10.574.500.495.099|C10.668.829.800.300.099|C11.270.684.249|C16.131.077.245.063|C16.131.666.300.099|C16.320.184.063|C16.320.290.684.249|C16.320.400.375.099 C10.500.300|C10.574.500.495|C10.668.829.800.300|C11.270.684|C16.131.077.245|C16.131.666.300|C16.320.184|C16.320.290.684|C16.320.400.375 ALMS|ALSS|Alstrom Hallgren Syndrome|Alstrom-Hallgren Syndrome|Alstrom's Syndrome|Alstroms Syndrome|Alström Syndrome|Syndrome, Alstrom|Syndrome, Alström|Syndrome, Alstrom-Hallgren|Syndrome, Alstrom's Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Alternariosis MESH:D060487 Opportunistic fungal infection by a member of ALTERNARIA genus. MESH:D060605 C01.150.703.302.383.125|C01.800.200.383.125|C17.800.838.208.416.125 C01.150.703.302.383|C01.800.200.383|C17.800.838.208.416 Alternarioses|Alternarioses, Cutaneous|Alternarioses, Dermal|Alternarioses, Subcutaneous|Alternariosis, Cutaneous|Alternariosis, Dermal|Alternariosis, Subcutaneous|Cutaneous Alternarioses|Cutaneous Alternariosis|Dermal Alternarioses|Dermal Alternariosis|Subcutaneous Alternarioses|Subcutaneous Alternariosis Bacterial infection or mycosis|Skin disease Alternating hemiplegia of childhood MESH:C536589 DO:DOID:0050635|OMIM:104290|OMIM:614820 MESH:D006429 C10.597.622.295/C536589|C23.888.592.636.312/C536589 C10.597.622.295|C23.888.592.636.312 AHC1|AHC2|Alternating hemiplegia|ALTERNATING HEMIPLEGIA OF CHILDHOOD 1|ALTERNATING HEMIPLEGIA OF CHILDHOOD 2|Alternating hemiplegia syndrome Nervous system disease|Signs and symptoms Altitude Sickness MESH:D000532 Multiple symptoms associated with reduced oxygen at high ALTITUDE. MESH:D012120 C08.618.020 C08.618 Altitude Hypoxia|Altitude Hypoxias|Hypoxia, Altitude|Mountain Sickness|Sickness, Altitude|Sickness, Mountain Respiratory tract disease Alveolar Bone Loss MESH:D016301 Resorption or wasting of the tooth-supporting bone (ALVEOLAR PROCESS) in the MAXILLA or MANDIBLE. MESH:D001862|MESH:D055093 C05.116.264.150|C07.465.714.354.500 C05.116.264|C07.465.714.354 Alveolar Bone Atrophies|Alveolar Bone Atrophy|Alveolar Bone Losses|Alveolar Process Atrophies|Alveolar Process Atrophy|Alveolar Resorption|Alveolar Resorptions|Bone Atrophies, Alveolar|Bone Atrophy, Alveolar|Bone Loss, Alveolar|Bone Losses, Periodontal|Bone Loss, Periodontal|Periodontal Bone Loss|Periodontal Bone Losses|Periodontal Resorption|Periodontal Resorptions|Resorption, Alveolar|Resorption, Periodontal|Resorptions, Alveolar Mouth disease|Musculoskeletal disease Alveolar capillary dysplasia MESH:C536590 OMIM:265380 MESH:D010547 C08.381.423.694/C536590|C16.614.694/C536590 C08.381.423.694|C16.614.694 ACDMPV|ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS|ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES|Congenital alveolar capillary dysplasia Infant-newborn disease|Respiratory tract disease Alveolar echinococcosis MESH:C536591 DO:DOID:12148 MESH:D004443 C01.610.335.190.396/C536591 C01.610.335.190.396 Alveolar hydatid disease|Alveolococcosis|Echinococcus Multilocularis Infection|Multilocular echinococcosis Parasitic disease Alveolitis, Extrinsic Allergic MESH:D000542 DO:DOID:841 A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis. MESH:D012130|MESH:D017563 C08.381.483.125|C08.674.055|C20.543.480.680.075 C08.381.483|C08.674|C20.543.480.680 Allergic Alveolitides, Extrinsic|Allergic Alveolitis, Extrinsic|Alveolitides, Extrinsic Allergic|Extrinsic Allergic Alveolitides|Extrinsic Allergic Alveolitis|Hypersensitivity Pneumonitides|Hypersensitivity Pneumonitis|Pneumonitides, Hypersensitivity|Pneumonitis, Hypersensitivity Immune system disease|Respiratory tract disease Alves Castelo dos Santos syndrome MESH:C536593 MESH:D004476 C16.131.077.350/C536593|C16.131.831.350/C536593|C16.320.850.250/C536593|C17.800.804.350/C536593|C17.800.827.250/C536593 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract Congenital abnormality|Genetic disease (inborn)|Skin disease Alzheimer Disease MESH:D000544 DO:DOID:10652|OMIM:104300 A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57) MESH:D003704|MESH:D024801 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 C10.228.140.380|C10.574.945|F03.615.400 Acute Confusional Senile Dementia|AD1|AD, INCLUDED|Alzheimer Dementia|Alzheimer Dementias|Alzheimer Disease, Early Onset|ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY, INCLUDED|ALZHEIMER DISEASE, FAMILIAL, 1|Alzheimer Disease, Familial (FAD)|Alzheimer Disease, Late Onset|ALZHEIMER DISEASE, PROTECTION AGAINST, INCLUDED|Alzheimer Diseases|Alzheimer Sclerosis|Alzheimer's Disease|Alzheimer's Disease, Focal Onset|Alzheimer's Diseases|Alzheimers Diseases|Alzheimer Syndrome|Alzheimer Type Dementia|Alzheimer Type Dementia (ATD)|Alzheimer-Type Dementia (ATD)|Alzheimer Type Senile Dementia|Dementia, Alzheimer|Dementia, Alzheimer Type|Dementia, Alzheimer-Type (ATD)|Dementia, Presenile|Dementia, Primary Senile Degenerative|Dementia, Senile|Early Onset Alzheimer Disease|Familial Alzheimer Disease (FAD)|Familial Alzheimer Diseases (FAD)|Focal Onset Alzheimer's Disease|Late Onset Alzheimer Disease|Presenile Alzheimer Dementia|PRESENILE AND SENILE DEMENTIA ALZHEIMER DISEASE, INCLUDED|Presenile Dementia|Primary Senile Degenerative Dementia|Sclerosis, Alzheimer|Senile Dementia|Senile Dementia, Acute Confusional|Senile Dementia, Alzheimer Type Mental disorder|Nervous system disease Alzheimer Disease 10 MESH:C566465 OMIM:609636 MESH:D000544 C10.228.140.380.100/C566465|C10.574.945.249/C566465|F03.615.400.100/C566465 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 Ad10|Alzheimer Disease, Familial, 10 Mental disorder|Nervous system disease Alzheimer Disease 11 MESH:C565228 OMIM:609790 MESH:D000544 C10.228.140.380.100/C565228|C10.574.945.249/C565228|F03.615.400.100/C565228 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD11|Alzheimer Disease, Familial, 11 Mental disorder|Nervous system disease Alzheimer Disease 12 MESH:C567022 OMIM:611073 MESH:D000544 C10.228.140.380.100/C567022|C10.574.945.249/C567022|F03.615.400.100/C567022 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD12|Alzheimer Disease, Familial, 12 Mental disorder|Nervous system disease Alzheimer Disease 13 MESH:C567000 OMIM:611152 MESH:D000544 C10.228.140.380.100/C567000|C10.574.945.249/C567000|F03.615.400.100/C567000 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD13 Mental disorder|Nervous system disease Alzheimer Disease 14 MESH:C566999 OMIM:611154 MESH:D000544 C10.228.140.380.100/C566999|C10.574.945.249/C566999|F03.615.400.100/C566999 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD14 Mental disorder|Nervous system disease Alzheimer Disease 15 MESH:C566998 OMIM:604154 MESH:D000544 C10.228.140.380.100/C566998|C10.574.945.249/C566998|F03.615.400.100/C566998 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD15|ALZHEIMER DISEASE WITHOUT NEUROFIBRILLARY TANGLES Mental disorder|Nervous system disease Alzheimer Disease 16 MESH:C567463 OMIM:300756 MESH:D000544|MESH:D040181 C10.228.140.380.100/C567463|C10.574.945.249/C567463|C16.320.322/C567463|F03.615.400.100/C567463 C10.228.140.380.100|C10.574.945.249|C16.320.322|F03.615.400.100 AD16 Genetic disease (inborn)|Mental disorder|Nervous system disease ALZHEIMER DISEASE 18 OMIM:615590 DO:DOID:0110050 MESH:D000544 C10.228.140.380.100/615590|C10.574.945.249/615590|F03.615.400.100/615590 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD18|ALZHEIMER DISEASE 18, LATE-ONSET Mental disorder|Nervous system disease ALZHEIMER DISEASE 19 OMIM:615711 DO:DOID:0110051 MESH:D000544 C10.228.140.380.100/615711|C10.574.945.249/615711|F03.615.400.100/615711 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD19|ALZHEIMER DISEASE 19, LATE-ONSET Mental disorder|Nervous system disease Alzheimer Disease 5 MESH:C566578 OMIM:602096 MESH:D000544 C10.228.140.380.100/C566578|C10.574.945.249/C566578|F03.615.400.100/C566578 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD5|Alzheimer Disease, Familial, 5 Mental disorder|Nervous system disease Alzheimer Disease 6 MESH:C565325 OMIM:605526 MESH:D000544 C10.228.140.380.100/C565325|C10.574.945.249/C565325|F03.615.400.100/C565325 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD6|Alzheimer Disease 6, Late-Onset|ALZHEIMER DISEASE 6, LATE-ONSET PLASMA BETA-AMYLOID-42 LEVEL QUANTITATIVE TRAIT LOCUS, INCLUDED Mental disorder|Nervous system disease Alzheimer Disease 7 MESH:C565251 OMIM:606187 MESH:D000544 C10.228.140.380.100/C565251|C10.574.945.249/C565251|F03.615.400.100/C565251 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD7|Alzheimer Disease, Familial, 7 Mental disorder|Nervous system disease Alzheimer Disease 8 MESH:C564622 OMIM:607116 MESH:D000544 C10.228.140.380.100/C564622|C10.574.945.249/C564622|F03.615.400.100/C564622 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD8|Alzheimer Disease, Familial, 8 Mental disorder|Nervous system disease Alzheimer Disease 9 MESH:C563834 OMIM:608907 MESH:D000544 C10.228.140.380.100/C563834|C10.574.945.249/C563834|F03.615.400.100/C563834 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD9|Alzheimer Disease 9, Late-Onset|ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO Mental disorder|Nervous system disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy MESH:C566299 MESH:D000544 C10.228.140.380.100/C566299|C10.574.945.249/C566299|F03.615.400.100/C566299 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 Mental disorder|Nervous system disease Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia MESH:C564330 OMIM:607822 MESH:D000544|MESH:D001072|MESH:D020336 C10.228.140.380.100/C564330|C10.574.945.249/C564330|C10.597.606.881.350/C564330|C10.597.636.500.500/C564330|C23.888.592.604.882.350/C564330|C23.888.592.643.500.500/C564330|F03.615.400.100/C564330 C10.228.140.380.100|C10.574.945.249|C10.597.606.881.350|C10.597.636.500.500|C23.888.592.604.882.350|C23.888.592.643.500.500|F03.615.400.100 AD3|ALZHEIMER DISEASE 3|ALZHEIMER DISEASE 3, EARLY-ONSET|ALZHEIMER DISEASE, FAMILIAL, 3 ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, INCLUDED|ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA, INCLUDED Mental disorder|Nervous system disease|Signs and symptoms Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques MESH:C564329 MESH:D000544|MESH:D020336 C10.228.140.380.100/C564329|C10.574.945.249/C564329|C10.597.636.500.500/C564329|C23.888.592.643.500.500/C564329|F03.615.400.100/C564329 C10.228.140.380.100|C10.574.945.249|C10.597.636.500.500|C23.888.592.643.500.500|F03.615.400.100 Mental disorder|Nervous system disease|Signs and symptoms Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology MESH:C565728 MESH:D000544 C10.228.140.380.100/C565728|C10.574.945.249/C565728|F03.615.400.100/C565728 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 Mental disorder|Nervous system disease Alzheimer disease, familial, type 3 MESH:C536598 MESH:D000544 C10.228.140.380.100/C536598|C10.574.945.249/C536598|F03.615.400.100/C536598 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 Alzheimer disease 3|Alzheimer Disease 3, Early-Onset|Alzheimer disease early onset type 3|Alzheimer Disease, Familial, 3|Alzheimer disease type 3 Mental disorder|Nervous system disease Alzheimer disease type 1 MESH:C536594 MESH:D000544 C10.228.140.380.100/C536594|C10.574.945.249/C536594|F03.615.400.100/C536594 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 Alzheimer disease 1|Alzheimer Disease, Familial, 1|Early-onset familial form of Alzheimer disease Mental disorder|Nervous system disease Alzheimer disease type 2 MESH:C536595 OMIM:104310 MESH:D000544 C10.228.140.380.100/C536595|C10.574.945.249/C536595|F03.615.400.100/C536595 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD2|Alzheimer Disease 2|Alzheimer Disease 2, Late-Onset|Alzheimer Disease Associated With Apoe4|Alzheimer disease associated with APOE E4|Late onset familial Alzheimer disease Mental disorder|Nervous system disease Alzheimer disease type 4 MESH:C536596 OMIM:606889 MESH:D000544 C10.228.140.380.100/C536596|C10.574.945.249/C536596|F03.615.400.100/C536596 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 AD4|Alzheimer disease 4|Alzheimer Disease, Familial, 4|Alzheimer disease, familial, type 4 Mental disorder|Nervous system disease Alzheimer's disease without Neurofibrillary tangles MESH:C536599 MESH:D000544 C10.228.140.380.100/C536599|C10.574.945.249/C536599|F03.615.400.100/C536599 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 Alzheimer Disease Without Neurofibrillary Tangles|Alzheimer's disease without Tau pathology Mental disorder|Nervous system disease Amastia MESH:C562989 MESH:D001941 C17.800.090/C562989 C17.800.090 Absent breasts and nipples|absent nipple|Amazia|Athelia|Complete absence of breasts Skin disease Amastia, Bilateral, With Ureteral Triplication And Dysmorphism MESH:C566295 MESH:D000015|MESH:D006330 C14.240.400/C566295|C14.280.400/C566295|C16.131.077/C566295|C16.131.240.400/C566295 C14.240.400|C14.280.400|C16.131.077|C16.131.240.400 Cardiovascular disease|Congenital abnormality Amaurosis congenita of Leber, type 1 MESH:C536600 OMIM:204000 MESH:D057130 C11.270.516/C536600|C11.768.364/C536600 C11.270.516|C11.768.364 Amaurosis Congenita Of Leber I|CRB|LCA|LCA1|Leber Congenital Amaurosis 1|Leber congenital amaurosis, type 1|Retinal blindness, congenital Eye disease Amaurosis congenita of Leber, type 2 MESH:C536601 OMIM:204100 MESH:D057130 C11.270.516/C536601|C11.768.364/C536601 C11.270.516|C11.768.364 Amaurosis Congenita Of Leber Ii|LCA2|Leber Congenital Amaurosis 2|Leber congenital amaurosis type 2 Eye disease Amaurosis congenita of Leber, type 5 MESH:C536602 OMIM:604537 MESH:D057130 C11.270.516/C536602|C11.768.364/C536602 C11.270.516|C11.768.364 LCA5|Leber Congenital Amaurosis 5|Leber congenital amaurosis, type 5 Eye disease Amaurosis congenita of Leber, type 9 MESH:C536603 OMIM:608553 MESH:D057130 C11.270.516/C536603|C11.768.364/C536603 C11.270.516|C11.768.364 LCA9|Leber Congenital Amaurosis 9|Leber congenital amaurosis, type 9 Eye disease Amaurosis Fugax MESH:D020757 Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245) MESH:D001766 C10.597.751.941.162.125|C11.966.075.125|C23.888.592.763.941.162.125 C10.597.751.941.162|C11.966.075|C23.888.592.763.941.162 Blindness, Monocular, Transient|Blindness, Transient Monocular|Monocular Blindness, Transient|Transient Monocular Blindness Eye disease|Nervous system disease|Signs and symptoms Amaurosis hypertrichosis MESH:C536604 OMIM:217080 MESH:D006983|MESH:D012174|MESH:D057130 C11.270.516/C536604|C11.270.684/C536604|C11.768.364/C536604|C11.768.585.658.500/C536604|C16.320.290.684/C536604|C17.800.329.875/C536604 C11.270.516|C11.270.684|C11.768.364|C11.768.585.658.500|C16.320.290.684|C17.800.329.875 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis|Cone-rod congenital amaurosis associated with congenital hypertrichosis|CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA|Congenital amaurosis cone-rod type with congenital hypertrichosis|JALILI SYNDROME Eye disease|Genetic disease (inborn)|Skin disease Amblyopia MESH:D000550 DO:DOID:10375|DO:DOID:10376 A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. STRABISMUS and REFRACTIVE ERRORS may cause this condition. Toxic amblyopia is a disorder of the OPTIC NERVE which is associated with ALCOHOLISM, tobacco SMOKING, and other toxins and as an adverse effect of the use of some medications. MESH:D001927|MESH:D014786 C10.228.140.055|C10.597.751.941.073|C11.966.073|C23.888.592.763.941.073 C10.228.140|C10.597.751.941|C11.966|C23.888.592.763.941 Amblyopia, Anisometropic|Amblyopia, Developmental|Amblyopias|Amblyopias, Anisometropic|Amblyopias, Developmental|Amblyopias, Stimulus Deprivation-Induced|Amblyopias, Suppression|Amblyopia, Stimulus Deprivation Induced|Amblyopia, Stimulus Deprivation-Induced|Amblyopia, Suppression|Anisometropic Amblyopia|Anisometropic Amblyopias|Deprivation-Induced Amblyopias, Stimulus|Deprivation-Induced Amblyopia, Stimulus|Developmental Amblyopia|Developmental Amblyopias|Eye, Lazy|Eyes, Lazy|Lazy Eye|Lazy Eyes|Stimulus Deprivation Induced Amblyopia|Stimulus Deprivation-Induced Amblyopia|Stimulus Deprivation-Induced Amblyopias|Suppression Amblyopia|Suppression Amblyopias Eye disease|Nervous system disease|Signs and symptoms Ambras syndrome MESH:C536605 DO:DOID:0111060|OMIM:145701 MESH:D006983 C17.800.329.875/C536605 C17.800.329.875 AMBRAS SYNDROME|HTC1|HYPERTRICHOSIS, CONGENITAL GENERALIZED|Hypertrichosis universalis congenita Ambras type|Hypertrichosis Universalis Congenita, Ambras Type Skin disease Ambulatory Care Sensitive Conditions MESH:D000090004 Various health conditions in OUTPATIENT CARE settings for which adequate management, treatment and interventions delivered in the ambulatory care setting could potentially prevent HOSPITALIZATION. MESH:D020969 C23.550.291.156 C23.550.291 Pathology (process) Amebiasis MESH:D000562 DO:DOID:9181 Infection with any of various amebae. It is an asymptomatic carrier state in most individuals, but diseases ranging from chronic, mild diarrhea to fulminant dysentery may occur. MESH:D011528 C01.610.752.049 C01.610.752 Abscess, Amebic|Abscesses, Amebic|Acanthamebiases|Acanthamebiasis|Acanthamoeba Infection|Acanthamoeba Infections|Amebiases|Amebic Abscess|Amebic Abscesses|Ameboma|Amoebiases|Amoebiasis|Balamuthia Infection|Balamuthia Infections|Infection, Acanthamoeba|Infection, Balamuthia|Iodamoebiases|Iodamoebiasis Parasitic disease Amelia and Terminal Transverse Hemimelia MESH:C566294 MESH:D004480 C05.660.585.350/C566294|C16.131.621.585.350/C566294 C05.660.585.350|C16.131.621.585.350 Congenital abnormality|Musculoskeletal disease Amelia, Autosomal Recessive MESH:C563338 MESH:D004480 C05.660.585.350/C563338|C16.131.621.585.350/C563338 C05.660.585.350|C16.131.621.585.350 Congenital abnormality|Musculoskeletal disease Ameloblastoma MESH:D000564 DO:DOID:0050894 An immature epithelial tumor of the JAW originating from the epithelial rests of Malassez or from other epithelial remnants of the ENAMEL from the developmental period. It is a slowly growing tumor, usually benign, but displays a marked propensity for invasive growth. MESH:D009808 C04.557.695.065 C04.557.695 Ameloblastomas Cancer Amelogenesis Imperfecta MESH:D000567 DO:DOID:2187 A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION. MESH:D000094602 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 C07.650.800.295|C07.793.700.295|C16.131.850.800.295 Congenital Enamel Hypoplasia Congenital abnormality|Mouth disease Amelogenesis Imperfecta hypomaturation type MESH:C536606 MESH:D000567 C07.650.800.295.250/C536606|C07.793.700.295.250/C536606|C16.131.850.800.295.250/C536606 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 Congenital abnormality|Mouth disease Amelogenesis Imperfecta, Hypomaturation Type, Iia1 MESH:C567146 MESH:D000567 C07.650.800.295.250/C567146|C07.793.700.295.250/C567146|C16.131.850.800.295.250/C567146 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 Ai2a1|Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1 Congenital abnormality|Mouth disease Amelogenesis Imperfecta, Hypomaturation Type, Iia2 MESH:C567279 OMIM:612529 MESH:D000567 C07.650.800.295.250/C567279|C07.793.700.295.250/C567279|C16.131.850.800.295.250/C567279 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 Ai2a2|Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 2 Congenital abnormality|Mouth disease Amelogenesis Imperfecta, Hypomaturation Type, Iia3 MESH:C567706 OMIM:613211 MESH:D000567 C07.650.800.295.250/C567706|C07.793.700.295.250/C567706|C16.131.850.800.295.250/C567706 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 Ai2a3 Congenital abnormality|Mouth disease AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 OMIM:614832 DO:DOID:0110062 MESH:D000567 C07.650.800.295.250/614832|C07.793.700.295.250/614832|C16.131.850.800.295.250/614832 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI2A4 Congenital abnormality|Mouth disease AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 OMIM:615887 DO:DOID:0110063 MESH:D000567 C07.650.800.295.250/615887|C07.793.700.295.250/615887|C16.131.850.800.295.250/615887 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI2A5 Congenital abnormality|Mouth disease AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 OMIM:617217 DO:DOID:0080960 MESH:D000567 C07.650.800.295.250/617217|C07.793.700.295.250/617217|C16.131.850.800.295.250/617217 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI2A6 Congenital abnormality|Mouth disease Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth MESH:C564463 MESH:D000567 C07.650.800.295.250/C564463|C07.793.700.295.250/C564463|C16.131.850.800.295.250/C564463 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 Congenital abnormality|Mouth disease Amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 1 MESH:C538243 OMIM:301200 MESH:D000567 C07.650.800.295.250/C538243|C07.793.700.295.250/C538243|C16.131.850.800.295.250/C538243 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI1E|AIH1|AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH|AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1|AMELOGENESIS IMPERFECTA, TYPE IE|Amelogenesis imperfecta, X-linked 1|ENAMEL HYPOPLASIA, X-LINKED Congenital abnormality|Mouth disease AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 OMIM:301201 DO:DOID:0110059 MESH:D000567 C07.650.800.295.250/301201|C07.793.700.295.250/301201|C16.131.850.800.295.250/301201 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AIH3, FORMERLY|AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE, FORMERLY|ENAMEL HYPOPLASIA, X-LINKED Congenital abnormality|Mouth disease Amelogenesis imperfecta local hypoplastic form MESH:C538240 OMIM:104530 MESH:D000567 C07.650.800.295.250/C538240|C07.793.700.295.250/C538240|C16.131.850.800.295.250/C538240 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI1A|Amelogenesis Imperfecta, Hypoplastic Type|AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA|AMELOGENESIS IMPERFECTA, TYPE IA|Hypoplastic type amelogenesis imperfecta|Local, hypoplastic type of amelogenesis imperfecta|Microdontia, Generalized Congenital abnormality|Mouth disease Amelogenesis imperfecta nephrocalcinosis MESH:C538241 MESH:D000567|MESH:D009397 C07.650.800.295.250/C538241|C07.793.700.295.250/C538241|C12.050.351.968.419.590/C538241|C12.200.777.419.590/C538241|C12.950.419.590/C538241|C16.131.850.800.295.250/C538241|C18.452.174.130.560/C538241 C07.650.800.295.250|C07.793.700.295.250|C12.050.351.968.419.590|C12.200.777.419.590|C12.950.419.590|C16.131.850.800.295.250|C18.452.174.130.560 Absent enamel, nephrocalcinosis and apparently normal calcium metabolism|Amelogenesis Imperfecta, Hypoplastic, and Nephrocalcinosis|Amelogenesis Imperfecta, Type IG|Enamel renal syndrome|Enamel-Renal Syndrome|Generalized enamel hypoplasia and renal dysfunction Congenital abnormality|Metabolic disease|Mouth disease|Urogenital disease (female)|Urogenital disease (male) Amelogenesis imperfecta pigmented hypomaturation type MESH:C538242 OMIM:204700 MESH:D000567 C07.650.800.295.250/C538242|C07.793.700.295.250/C538242|C16.131.850.800.295.250/C538242 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI2A1|AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1|AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 1 Congenital abnormality|Mouth disease Amelogenesis Imperfecta, Type IB MESH:C562879 OMIM:104500 MESH:D000567 C07.650.800.295.250/C562879|C07.793.700.295.250/C562879|C16.131.850.800.295.250/C562879 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI1B|AIH2|Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant|Enamel Hypoplasia, Hereditary Localized Congenital abnormality|Mouth disease Amelogenesis Imperfecta, Type Ic MESH:C567147 OMIM:204650 MESH:D000567 C07.650.800.295.250/C567147|C07.793.700.295.250/C567147|C16.131.850.800.295.250/C567147 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI1C|Amelogenesis Imperfecta, Hypoplastic, With Or Without Openbite Malocclusion, Autosomal Recessive|AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH OR WITHOUT OPEN-BITE MALOCCLUSION, AUTOSOMAL RECESSIVE|Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive Congenital abnormality|Mouth disease AMELOGENESIS IMPERFECTA, TYPE IF OMIM:616270 DO:DOID:0110065 MESH:D000567 C07.650.800.295.250/616270|C07.793.700.295.250/616270|C16.131.850.800.295.250/616270 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI1F|AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IF Congenital abnormality|Mouth disease AMELOGENESIS IMPERFECTA, TYPE IG OMIM:204690 DO:DOID:0110066 MESH:D000567 C07.650.800.295.250/204690|C07.793.700.295.250/204690|C16.131.850.800.295.250/204690 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI1G|AIGFS|AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME|AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH NEPHROCALCINOSIS|ENAMEL-RENAL-GINGIVAL SYNDROME|ENAMEL-RENAL SYNDROME|ERS Congenital abnormality|Mouth disease AMELOGENESIS IMPERFECTA, TYPE IH OMIM:616221 DO:DOID:0110064 MESH:D000567 C07.650.800.295.250/616221|C07.793.700.295.250/616221|C16.131.850.800.295.250/616221 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI1H Congenital abnormality|Mouth disease Amelogenesis Imperfecta, Type III MESH:C562880 DO:DOID:0111721|OMIM:130900 MESH:D000567 C07.650.800.295.250/C562880|C07.793.700.295.250/C562880|C16.131.850.800.295.250/C562880 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 ADHCAI|AI3|AI3A|Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant|Amelogenesis Imperfecta, Hypomineralization Type|AMELOGENESIS IMPERFECTA, TYPE III|AMELOGENESIS IMPERFECTA, TYPE IIIA Congenital abnormality|Mouth disease AMELOGENESIS IMPERFECTA, TYPE IJ OMIM:617297 DO:DOID:0080953 MESH:D000567 C07.650.800.295.250/617297|C07.793.700.295.250/617297|C16.131.850.800.295.250/617297 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI1J Congenital abnormality|Mouth disease Amelogenesis Imperfecta, Type IV MESH:C566293 OMIM:104510 MESH:D000567 C07.650.800.295.250/C566293|C07.793.700.295.250/C566293|C16.131.850.800.295.250/C566293 C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250 AI4|AIHHT|Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism Congenital abnormality|Mouth disease Ameloonychohypohidrotic syndrome MESH:C538245 MESH:D003744|MESH:D007007|MESH:D009264 C07.650.800.295.625/C538245|C07.793.700.295.625/C538245|C16.131.850.800.295.625/C538245|C17.800.946.370/C538245|C23.300.820/C538245 C07.650.800.295.625|C07.793.700.295.625|C16.131.850.800.295.625|C17.800.946.370|C23.300.820 Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis Congenital abnormality|Mouth disease|Pathology (anatomical condition)|Skin disease Amenorrhea MESH:D000568 DO:DOID:13938 Absence of menstruation. MESH:D008599 C23.550.568.500 C23.550.568 Amenorrhea, Postpartum|Postpartum Amenorrhea|Postpartum Amenorrheas Pathology (process) Amino Acid Metabolism, Inborn Errors MESH:D000592 DO:DOID:9252 Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. MESH:D008661 C16.320.565.100|C18.452.648.100 C16.320.565|C18.452.648 Amino Acid Metabolism Disorders, Inborn|Amino Acid Metabolism, Inborn Error|Amino Acid Metabolism, Inherited Disorders|Amino Acidopathies, Congenital|Amino Acidopathies, Inborn|Amino Acidopathy, Congenital|Amino Acidopathy, Inborn|Congenital Amino Acidopathies|Congenital Amino Acidopathy|Inborn Amino Acidopathies|Inborn Amino Acidopathy|Inborn Errors, Amino Acid Metabolism|Inherited Errors of Amino Acid Metabolism Genetic disease (inborn)|Metabolic disease Amino Acid Transport Disorders, Inborn MESH:D020157 Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92) MESH:D008661 C16.320.565.151|C18.452.648.151 C16.320.565|C18.452.648 Inborn Transport Disorders, Amino Acid|Inherited Amino Acid Transport Disorders|Transport Disorders, Amino Acid, Inborn Genetic disease (inborn)|Metabolic disease Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis MESH:C565960 MESH:D000592|MESH:D004392|MESH:D008607|MESH:D009136|MESH:D010024 C05.116.099.343/C565960|C05.116.198.579/C565960|C05.651.534.500/C565960|C10.597.606.360/C565960|C10.668.491.175.500/C565960|C16.320.240/C565960|C16.320.565.100/C565960|C16.320.577/C565960|C18.452.104.579/C565960|C18.452.648.100/C565960|C19.297/C565960|C23.888.592.604.646/C565960|F03.625.539/C565960 C05.116.099.343|C05.116.198.579|C05.651.534.500|C10.597.606.360|C10.668.491.175.500|C16.320.240|C16.320.565.100|C16.320.577|C18.452.104.579|C18.452.648.100|C19.297|C23.888.592.604.646|F03.625.539 Endocrine system disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Aminoacylase 1 deficiency MESH:C538246 OMIM:609924 MESH:D000592 C16.320.565.100/C538246|C18.452.648.100/C538246 C16.320.565.100|C18.452.648.100 ACY1D|Deficiency of the aminoacylase-1 enzyme Genetic disease (inborn)|Metabolic disease Amish Infantile Epilepsy Syndrome MESH:C563799 OMIM:609056 MESH:D004827 C10.228.140.490/C563799 C10.228.140.490 AMISH INFANTILE EPILEPSY SYNDROME|Epilepsy Syndrome, Infantile-Onset Symptomatic|GM3 Synthase Deficiency|SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME|SALT AND PEPPER MENTAL RETARDATION SYNDROME|SPDRS Nervous system disease Amish lethal microcephaly MESH:C538247 OMIM:607196 MESH:D008831 C05.660.207.620/C538247|C10.500.507.400.500/C538247|C16.131.621.207.620/C538247|C16.131.666.507.400.500/C538247 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 AMISH LETHAL MICROCEPHALY|Amish Microcephaly|MCPHA|Microcephaly, Amish type|THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)|THMD3 Congenital abnormality|Musculoskeletal disease|Nervous system disease Amnesia MESH:D000647 DO:DOID:10914|DO:DOID:11037 Pathologic partial or complete loss of the ability to recall past experiences (AMNESIA, RETROGRADE) or to form new memories (AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7) MESH:D008569|MESH:D019965 C10.597.606.525.100|C23.888.592.604.529.100|F03.615.200 C10.597.606.525|C23.888.592.604.529|F03.615 Amnesia, Dissociative|Amnesia, Global|Amnesia, Hysterical|Amnesia Memory Loss|Amnesia-Memory Loss|Amnesia-Memory Losses|Amnesias|Amnesias, Dissociative|Amnesias, Global|Amnesias, Hysterical|Amnesias, Tactile|Amnesias, Temporary|Amnesia, Tactile|Amnesia, Temporary|Amnestic State|Amnestic States|Dissociative Amnesia|Dissociative Amnesias|Global Amnesia|Global Amnesias|Hysterical Amnesia|Hysterical Amnesias|State, Amnestic|States, Amnestic|Tactile Amnesia|Tactile Amnesias|Temporary Amnesia|Temporary Amnesias Mental disorder|Nervous system disease|Signs and symptoms Amnesia, Anterograde MESH:D020324 DO:DOID:5340 Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow CRANIOCEREBRAL TRAUMA; SEIZURES; ANOXIA; and other conditions which adversely affect neural structures associated with memory formation (e.g., the HIPPOCAMPUS; FORNIX (BRAIN); MAMMILLARY BODIES; and ANTERIOR THALAMIC NUCLEI). (From Memory 1997 Jan-Mar;5(1-2):49-71) MESH:D000647 C10.597.606.525.100.075|C23.888.592.604.529.100.075|F03.615.200.137 C10.597.606.525.100|C23.888.592.604.529.100|F03.615.200 Amnesia, Post Ictal|Amnesia, Post-Ictal|Amnesias, Anterograde|Amnesias, Post-Ictal|Anterograde Amnesia|Anterograde Amnesias|Anterograde Memory Loss|Anterograde Memory Losses|Losses, Post-Ictal Memory|Loss, Post-Ictal Memory|Memory Loss, Anterograde|Memory Losses, Anterograde|Memory Losses, Post-Ictal|Memory Loss, Post-Ictal|Post-Ictal Amnesia|Post-Ictal Amnesias|Post Ictal Memory Loss|Post-Ictal Memory Loss|Post-Ictal Memory Losses Mental disorder|Nervous system disease|Signs and symptoms Amnesia, Retrograde MESH:D000648 DO:DOID:4543 Loss of the ability to recall information that had been previously encoded in memory prior to a specified or approximate point in time. This process may be organic or psychogenic in origin. Organic forms may be associated with CRANIOCEREBRAL TRAUMA; CEREBROVASCULAR ACCIDENTS; SEIZURES; DEMENTIA; and a wide variety of other conditions that impair cerebral function. (From Adams et al., Principles of Neurology, 6th ed, pp426-9) MESH:D000647 C10.597.606.525.100.150|C23.888.592.604.529.100.150|F03.615.200.150 C10.597.606.525.100|C23.888.592.604.529.100|F03.615.200 Amnesia, Pre Ictal|Amnesia, Pre-Ictal|Amnesias, Pre-Ictal|Amnesias, Retrograde|Memory Losses, Pre-Ictal|Memory Losses, Retrograde|Memory Loss, Pre-Ictal|Memory Loss, Retrograde|Pre-Ictal Amnesia|Pre-Ictal Amnesias|Pre Ictal Memory Loss|Pre-Ictal Memory Loss|Pre-Ictal Memory Losses|Retrograde Amnesia|Retrograde Amnesias|Retrograde Memory Loss|Retrograde Memory Losses Mental disorder|Nervous system disease|Signs and symptoms Amnesia, Transient Global MESH:D020236 DO:DOID:13027 A syndrome characterized by a transient loss of the ability to form new memories. It primarily occurs in middle aged or elderly individuals, and episodes may last from minutes to hours. During the period of amnesia, immediate and recent memory abilities are impaired, but the level of consciousness and ability to perform other intellectual tasks are preserved. The condition is related to bilateral dysfunction of the medial portions of each TEMPORAL LOBE. Complete recovery normally occurs, and recurrences are unusual. (From Adams et al., Principles of Neurology, 6th ed, pp429-30) MESH:D000647|MESH:D001927 C10.228.140.060|C10.597.606.525.100.800|C23.888.592.604.529.100.800|F03.615.200.800 C10.228.140|C10.597.606.525.100|C23.888.592.604.529.100|F03.615.200 Global Amnesia, Transient|TGAs (Transient Global Amnesia)|TGA (Transient Global Amnesia)|Transient Global Amnesia Mental disorder|Nervous system disease|Signs and symptoms Amniotic Band Sequence MESH:C531614 MESH:D000652 C16.614.042/C531614 C16.614.042 Amniotic bands sequence|Congenital constricting bands|Constricting Bands, Congenital|Familial amniotic bands|Streeter anomaly Infant-newborn disease Amniotic Band Syndrome MESH:D000652 A disorder present in the newborn infant in which constriction rings or bands, causing soft tissue depressions, encircle digits, extremities, or limbs and sometimes the neck, thorax, or abdomen. They may be associated with intrauterine amputations. MESH:D007232 C16.614.042 C16.614 Amniotic Band|Amniotic Bands|Amputation, Intrauterine|Amputations, Intrauterine|Annular Groove|Annular Grooves|Band, Amniotic|Bands, Amniotic|Constriction, Intrauterine Ring|Constrictions, Intrauterine Ring|Groove, Annular|Grooves, Annular|Intrauterine Amputation|Intrauterine Amputations|Intrauterine Ring Constriction|Intrauterine Ring Constrictions|Ring Constriction, Intrauterine|Ring Constrictions, Intrauterine|Streeter Syndrome|Syndrome, Amniotic Band|Syndrome, Streeter Infant-newborn disease Amobarbital, Deficient N-Hydroxylation of MESH:C565959 MESH:D008661 C16.320.565/C565959|C18.452.648/C565959 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Amoebiasis due to Entamoeba histolytica MESH:C531613 MESH:D000562 C01.610.752.049/C531613 C01.610.752.049 Parasitic disease Amoebic dysentery due to Entamoeba histolytica MESH:C539067 MESH:D004404 C01.610.432.396/C539067|C01.610.752.049.328/C539067|C06.405.205.331.312/C539067|C06.405.469.300.312/C539067|C06.405.469.452.396/C539067 C01.610.432.396|C01.610.752.049.328|C06.405.205.331.312|C06.405.469.300.312|C06.405.469.452.396 Digestive system disease|Parasitic disease Amoebic gill disease MESH:C000654764 MESH:D000562|MESH:D005393 C01.610.752.049/C000654764|C22.362/C000654764 C01.610.752.049|C22.362 Amoebic gill infection|Neoparamoeba perurans infection Animal disease|Parasitic disease Amphetamine-Related Disorders MESH:D019969 Disorders related or resulting from use of amphetamines. MESH:D019966 C25.775.225|F03.900.225 C25.775|F03.900 Abuse, Amphetamine|Addiction, Amphetamine|Amphetamine Abuse|Amphetamine Addiction|Amphetamine Dependence|Amphetamine Related Disorders|Dependence, Amphetamine|Disorder, Amphetamine-Related|Disorders, Amphetamine-Related Mental disorder|Substance-related disorder Amputation, Congenital MESH:C565682 MESH:D000652 C16.614.042/C565682 C16.614.042 Infant-newborn disease Amputation, Traumatic MESH:D000673 Loss of a limb or other bodily appendage by accidental injury. MESH:D014947 C26.062 C26 Amputations, Traumatic|Traumatic Amputation|Traumatic Amputations Wounds and injuries AMR Syndrome MESH:C565965 OMIM:203650 MESH:D000505|MESH:D008607 C10.597.606.360/C565965|C17.800.329.937.122/C565965|C23.300.035/C565965|C23.888.592.604.646/C565965|F03.625.539/C565965 C10.597.606.360|C17.800.329.937.122|C23.300.035|C23.888.592.604.646|F03.625.539 ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 1|Alopecia-Mental Retardation Syndrome 1|AMR SYNDROME|APMR|APMR1 Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Amyloid angiopathy MESH:C538248 MESH:D016657 C10.228.140.300.510.200.200/C538248|C14.907.253.560.200.200/C538248|C18.452.845.500.100/C538248 C10.228.140.300.510.200.200|C14.907.253.560.200.200|C18.452.845.500.100 Amyloidosis - cerebral|Senile cerebral amyloid angiopathy Cardiovascular disease|Metabolic disease|Nervous system disease Amyloid Neuropathies MESH:D017772 Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349) MESH:D000686|MESH:D010523 C10.668.829.050|C18.452.845.500.050 C10.668.829|C18.452.845.500 Amyloid Neuropathies, Secondary|Amyloid Neuropathy|Amyloid Neuropathy, Secondary|Amyloid Polyneuropathies|Amyloid Polyneuropathy|Neuropathies, Amyloid|Neuropathies, Secondary Amyloid|Neuropathy, Amyloid|Neuropathy, Secondary Amyloid|Polyneuropathies, Amyloid|Polyneuropathy, Amyloid|Secondary Amyloid Neuropathies|Secondary Amyloid Neuropathy Metabolic disease|Nervous system disease Amyloid Neuropathies, Familial MESH:D028227 Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN. MESH:D017772|MESH:D020271|MESH:D028226 C10.574.500.050|C10.668.829.050.050|C16.320.400.050|C16.320.565.176.050|C18.452.648.176.050|C18.452.845.500.050.050|C18.452.845.500.075.050 C10.574.500|C10.668.829.050|C16.320.400|C16.320.565.176|C18.452.648.176|C18.452.845.500.050|C18.452.845.500.075 Amyloid Neuropathy, Familial|Amyloid Neuropathy Type 1|Amyloidoses, Hereditary Neuropathic|Amyloidoses, Portuguese Polyneuritic|Amyloidosis, Hereditary Neuropathic|Amyloidosis, Portuguese Polyneuritic|Amyloid Polyneuropathies, Familial|Amyloid Polyneuropathy, British Type|Amyloid Polyneuropathy, Familial|Amyloid Polyneuropathy, Iowa Type|Amyloid Polyneuropathy, Swiss Type|Amyloid Syndrome, Neuropathic|Amyloid Syndromes, Neuropathic|Appalachian Type Familial Amyloid Polyneuropathy|British Type Amyloid Polyneuropathy|Cerebral Amyloid Angiopathy, British Type|Familial Amyloid Neuropathies|Familial Amyloid Neuropathy|Familial Amyloid Neuropathy, Andrade Type|Familial Amyloid Neuropathy, Finnish Type|Familial Amyloid Neuropathy, Portuguese Type|Familial Amyloid Polyneuropathies|Familial Amyloid Polyneuropathy|Familial Amyloid Polyneuropathy, Appalachian Type|Familial Amyloid Polyneuropathy, Jewish Type|Familial Amyloid Polyneuropathy, Type I|Familial Amyloid Polyneuropathy, Type II|Familial Amyloid Polyneuropathy, Type III|Familial Amyloid Polyneuropathy, Type IV|Familial Amyloid Polyneuropathy, Type V|Familial Amyloid Polyneuropathy, Type VI|Familial Portuguese Polyneuritic Amyloidosis|Finnish Type Familial Amyloid Neuropathy|Hereditary Neuropathic Amyloidoses|Hereditary Neuropathic Amyloidosis|Iowa Type Amyloid Polyneuropathy|Jewish Type Familial Amyloid Polyneuropathy|Neuropathic Amyloidoses, Hereditary|Neuropathic Amyloidosis, Hereditary|Neuropathic Amyloid Syndrome|Neuropathic Amyloid Syndromes|Neuropathies, Familial Amyloid|Neuropathy, Familial Amyloid|Polyneuritic Amyloidoses, Portuguese|Polyneuritic Amyloidosis, Portuguese|Polyneuropathies, Familial Amyloid|Polyneuropathy, Familial Amyloid|Portuguese Polyneuritic Amyloidoses|Portuguese Polyneuritic Amyloidosis|Portuguese Type Familial Amyloid Neuropathy|Swiss Type Amyloid Polyneuropathy|Type I Familial Amyloid Polyneuropathy|Type II Familial Amyloid Polyneuropathy|Type III Familial Amyloid Polyneuropathy|Type IV Familial Amyloid Polyneuropathy|Type V Familial Amyloid Polyneuropathy|Type VI Familial Amyloid Polyneuropathy|Wohlwill Andrade Syndrome|Wohlwill-Andrade Syndrome|Wohlwill Corino Andrade Syndrome|Wohlwill-Corino Andrade Syndrome Genetic disease (inborn)|Metabolic disease|Nervous system disease Amyloid Neuropathies, Primary (nonfamilial) MESH:C531615 MESH:D017772 C10.668.829.050/C531615|C18.452.845.500.050/C531615 C10.668.829.050|C18.452.845.500.050 Metabolic disease|Nervous system disease Amyloidosis MESH:D000686 DO:DOID:9120 A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits. MESH:D057165 C18.452.845.500 C18.452.845 Amyloidoses Metabolic disease Amyloidosis, Cerebral, with Spongiform Encephalopathy MESH:C535800 MESH:D003704|MESH:D017096 C01.207.800/C535800|C10.228.140.380/C535800|C10.228.228.800/C535800|C10.574.843/C535800|F03.615.400/C535800 C01.207.800|C10.228.140.380|C10.228.228.800|C10.574.843|F03.615.400 Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits In CNS|Prion Dementia Mental disorder|Nervous system disease Amyloidosis, Cerebroarterial, App-Related MESH:C537944 OMIM:605714 MESH:D028243 C10.228.140.163.100.168/C537944|C10.228.140.300.275.311/C537944|C10.228.140.300.510.200.200.160/C537944|C14.907.253.329.311/C537944|C14.907.253.560.200.200.160/C537944|C16.320.565.176.160/C537944|C16.320.565.189.168/C537944|C18.452.132.100.168/C537944|C18.452.648.176.160/C537944|C18.452.648.189.168/C537944|C18.452.845.500.075.160/C537944|C18.452.845.500.100.160/C537944 C10.228.140.163.100.168|C10.228.140.300.275.311|C10.228.140.300.510.200.200.160|C14.907.253.329.311|C14.907.253.560.200.200.160|C16.320.565.176.160|C16.320.565.189.168|C18.452.132.100.168|C18.452.648.176.160|C18.452.648.189.168|C18.452.845.500.075.160|C18.452.845.500.100.160 AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED|Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant|Cerebral Amyloid Angiopathy, App-Related|Cerebral Amyloid Angiopathy, App-Related, Arctic Variant|Cerebral Amyloid Angiopathy, App-Related, Dutch Variant|Cerebral Amyloid Angiopathy, App-Related, Flemish Variant|Cerebral Amyloid Angiopathy, App-Related, Iowa Variant|Cerebral Amyloid Angiopathy, App-Related, Italian Variant|Cerebral hemorrhage with amyloidosis, hereditary, Dutch type|Dutch Type Hereditary Cerebral Amyloid Angiopathy|HCHWAD|Hereditary Cerebral Amyloid Angiopathy, Dutch Type Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Amyloidosis, Cutaneous Bullous MESH:C562644 MESH:D012872|MESH:D012873|MESH:D028226 C16.320.565.176/C562644|C16.320.850/C562644|C17.800.827/C562644|C17.800.865/C562644|C18.452.648.176/C562644|C18.452.845.500.075/C562644 C16.320.565.176|C16.320.850|C17.800.827|C17.800.865|C18.452.648.176|C18.452.845.500.075 Genetic disease (inborn)|Metabolic disease|Skin disease Amyloidosis, Familial MESH:D028226 Diseases in which there is a familial pattern of AMYLOIDOSIS. MESH:D000686|MESH:D008661 C16.320.565.176|C18.452.648.176|C18.452.845.500.075 C16.320.565|C18.452.648|C18.452.845.500 Amyloidoses, Familial|Amyloidoses, Hereditary|Amyloidosis, Hereditary|Familial Amyloidoses|Familial Amyloidosis|Hereditary Amyloidoses|Hereditary Amyloidosis Genetic disease (inborn)|Metabolic disease Amyloidosis, familial visceral MESH:C538249 OMIM:105200 MESH:D028226 C16.320.565.176/C538249|C18.452.648.176/C538249|C18.452.845.500.075/C538249 C16.320.565.176|C18.452.648.176|C18.452.845.500.075 Amyloidosis 8|Amyloidosis, familial renal|Amyloidosis, systemic nonneuropathic|Amyloidosis VIII|German type amyloidosis|Ostertag type amyloidosis Genetic disease (inborn)|Metabolic disease Amyloidosis, Hereditary, Transthyretin-Related MESH:C567782 OMIM:105210 MESH:D028227 C10.574.500.050/C567782|C10.668.829.050.050/C567782|C16.320.400.050/C567782|C16.320.565.176.050/C567782|C18.452.648.176.050/C567782|C18.452.845.500.050.050/C567782|C18.452.845.500.075.050/C567782 C10.574.500.050|C10.668.829.050.050|C16.320.400.050|C16.320.565.176.050|C18.452.648.176.050|C18.452.845.500.050.050|C18.452.845.500.075.050 AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED, INCLUDED|AMYLOID POLYNEUROPATHY, FAMILIAL;FAP AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, INCLUDED|Familial Transthyretin Cardiac Amyloidosis|Hereditary Amyloidosis, Transthyretin-Related|hereditary transthyretin amyloidosis|Transthyretin Amyloidosis Genetic disease (inborn)|Metabolic disease|Nervous system disease amyloidosis IX MESH:C562643 OMIM:105250 MESH:D012873|MESH:D028226 C16.320.565.176/C562643|C16.320.850/C562643|C17.800.827/C562643|C18.452.648.176/C562643|C18.452.845.500.075/C562643 C16.320.565.176|C16.320.850|C17.800.827|C18.452.648.176|C18.452.845.500.075 Amyloidosis, Familial Cutaneous Lichen|AMYLOIDOSIS IX|AMYLOIDOSIS, PRIMARY CUTANEOUS, 1|AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1|Cutaneous lichen amyloidosis, familial|Lichen Amyloidosis, Familial|Lichen Amyloidosis, Familial Cutaneous|PCA|PCA1|PLCA1 Genetic disease (inborn)|Metabolic disease|Skin disease Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation MESH:C565958 MESH:D003229|MESH:D005882|MESH:D008607|MESH:D028226 C07.465.714.258/C565958|C10.597.606.360/C565958|C11.187/C565958|C16.320.565.176/C565958|C18.452.648.176/C565958|C18.452.845.500.075/C565958|C23.888.592.604.646/C565958|F03.625.539/C565958 C07.465.714.258|C10.597.606.360|C11.187|C16.320.565.176|C18.452.648.176|C18.452.845.500.075|C23.888.592.604.646|F03.625.539 Eye disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Mouth disease|Nervous system disease|Signs and symptoms Amyloidosis, Primary Cutaneous MESH:C562642 OMIM:613955 MESH:D012873|MESH:D028226 C16.320.565.176/C562642|C16.320.850/C562642|C17.800.827/C562642|C18.452.648.176/C562642|C18.452.845.500.075/C562642 C16.320.565.176|C16.320.850|C17.800.827|C18.452.648.176|C18.452.845.500.075 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2|PLCA2|Primary Localized Cutaneous Amyloidosis Genetic disease (inborn)|Metabolic disease|Skin disease Amyopathic dermatomyositis MESH:C538250 MESH:D003882 C05.651.594.819.500/C538250|C10.668.491.562.575.500/C538250|C17.300.250/C538250|C17.800.185/C538250 C05.651.594.819.500|C10.668.491.562.575.500|C17.300.250|C17.800.185 Connective tissue disease|Musculoskeletal disease|Nervous system disease|Skin disease Amyotrophic Dystonic Paraplegia MESH:C566292 MESH:D004421|MESH:D008607|MESH:D015419|MESH:D020417 C10.292.562.675.300/C566292|C10.500.300.820/C566292|C10.574.500.495.820/C566292|C10.597.350.300/C566292|C10.597.606.360/C566292|C10.668.829.800.300.820/C566292|C11.590.400.300/C566292|C16.131.666.300.820/C566292|C16.320.400.375.820/C566292|C16.614.643/C566292|C23.888.592.350.300/C566292|C23.888.592.604.646/C566292|F03.625.539/C566292 C10.292.562.675.300|C10.500.300.820|C10.574.500.495.820|C10.597.350.300|C10.597.606.360|C10.668.829.800.300.820|C11.590.400.300|C16.131.666.300.820|C16.320.400.375.820|C16.614.643|C23.888.592.350.300|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Genetic disease (inborn)|Infant-newborn disease|Mental disorder|Nervous system disease|Signs and symptoms Amyotrophic Lateral Sclerosis MESH:D000690 DO:DOID:0111246|DO:DOID:332 A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) MESH:D013118|MESH:D016472|MESH:D057177 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 C10.228.854|C10.574.562|C10.574.950|C10.668.467|C18.452.845.800 ALS - Amyotrophic Lateral Sclerosis|ALS Amyotrophic Lateral Sclerosis|Amyotrophic Lateral Sclerosis, Guam Form|Amyotrophic Lateral Sclerosis Parkinsonism Dementia Complex 1|Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 1|Amyotrophic Lateral Sclerosis, Parkinsonism Dementia Complex of Guam|Amyotrophic Lateral Sclerosis, Parkinsonism-Dementia Complex of Guam|Amyotrophic Lateral Sclerosis With Dementia|Charcot Disease|Dementia With Amyotrophic Lateral Sclerosis|Disease, Guam|Disease, Lou-Gehrigs|Gehrig Disease|Gehrig's Disease|Gehrigs Disease|Guam Disease|Guam Form of Amyotrophic Lateral Sclerosis|Lou Gehrig Disease|Lou Gehrig's Disease|Lou-Gehrigs Disease|Motor Neuron Disease, Amyotrophic Lateral Sclerosis|Sclerosis, Amyotrophic Lateral Metabolic disease|Nervous system disease Amyotrophic lateral sclerosis 1 MESH:C531617 OMIM:105400 MESH:D000690 C10.228.854.139/C531617|C10.574.562.250/C531617|C10.574.950.050/C531617|C10.668.467.250/C531617|C18.452.845.800.050/C531617 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS1|AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL DOMINANT AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE, INCLUDED|AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL|Amyotrophic Lateral Sclerosis, Autosomal Dominant|Amyotrophic Lateral Sclerosis, Familial|Amyotrophic Lateral Sclerosis, Sporadic|AMYOTROPHIC LATERAL SCLEROSIS, SPORADIC, INCLUDED|FALS Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis 10 MESH:C567429 OMIM:612069 MESH:D000690 C10.228.854.139/C567429|C10.574.562.250/C567429|C10.574.950.050/C567429|C10.668.467.250/C567429|C18.452.845.800.050/C567429 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;ALS10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED,|FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED|FTLD-TDP, TARDBP-RELATED, INCLUDED|INCLUDED Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis 11 MESH:C567244 OMIM:612577 MESH:D000690 C10.228.854.139/C567244|C10.574.562.250/C567244|C10.574.950.050/C567244|C10.668.467.250/C567244|C18.452.845.800.050/C567244 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS11 Metabolic disease|Nervous system disease AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA OMIM:613435 DO:DOID:0060203 MESH:D000690 C10.228.854.139/613435|C10.574.562.250/613435|C10.574.950.050/613435|C10.668.467.250/613435|C18.452.845.800.050/613435 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS12 Metabolic disease|Nervous system disease AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA OMIM:300857 DO:DOID:0060206 MESH:D000690|MESH:D057180 C10.228.140.380.266.299/300857|C10.228.854.139/300857|C10.574.562.250/300857|C10.574.950.050/300857|C10.574.950.300.299/300857|C10.668.467.250/300857|C18.452.845.800.050/300857|C18.452.845.800.300.299/300857|F03.615.400.380.299/300857 C10.228.140.380.266.299|C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.574.950.300.299|C10.668.467.250|C18.452.845.800.050|C18.452.845.800.300.299|F03.615.400.380.299 ALS15 Mental disorder|Metabolic disease|Nervous system disease AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE OMIM:614373 DO:DOID:0060207 MESH:D000690 C10.228.854.139/614373|C10.574.562.250/614373|C10.574.950.050/614373|C10.668.467.250/614373|C18.452.845.800.050/614373 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS16 Metabolic disease|Nervous system disease AMYOTROPHIC LATERAL SCLEROSIS 18 OMIM:614808 DO:DOID:0060209 MESH:D000690 C10.228.854.139/614808|C10.574.562.250/614808|C10.574.950.050/614808|C10.668.467.250/614808|C18.452.845.800.050/614808 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS18 Metabolic disease|Nervous system disease AMYOTROPHIC LATERAL SCLEROSIS 19 OMIM:615515 DO:DOID:0060210 MESH:D000690 C10.228.854.139/615515|C10.574.562.250/615515|C10.574.950.050/615515|C10.668.467.250/615515|C18.452.845.800.050/615515 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS19 Metabolic disease|Nervous system disease AMYOTROPHIC LATERAL SCLEROSIS 20 OMIM:615426 DO:DOID:0060211 MESH:D000690 C10.228.854.139/615426|C10.574.562.250/615426|C10.574.950.050/615426|C10.668.467.250/615426|C18.452.845.800.050/615426 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS20 Metabolic disease|Nervous system disease AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA OMIM:616208 DO:DOID:0060355 MESH:D000690|MESH:D057180 C10.228.140.380.266.299/616208|C10.228.854.139/616208|C10.574.562.250/616208|C10.574.950.050/616208|C10.574.950.300.299/616208|C10.668.467.250/616208|C18.452.845.800.050/616208|C18.452.845.800.300.299/616208|F03.615.400.380.299/616208 C10.228.140.380.266.299|C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.574.950.300.299|C10.668.467.250|C18.452.845.800.050|C18.452.845.800.300.299|F03.615.400.380.299 ALS22 Mental disorder|Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis 2, Juvenile MESH:C565957 OMIM:205100 MESH:D000690 C10.228.854.139/C565957|C10.574.562.250/C565957|C10.574.950.050/C565957|C10.668.467.250/C565957|C18.452.845.800.050/C565957 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS2|ALSJ|ALS, Juvenile Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis 3 MESH:C564688 OMIM:606640 MESH:D000690 C10.228.854.139/C564688|C10.574.562.250/C564688|C10.574.950.050/C564688|C10.668.467.250/C564688|C18.452.845.800.050/C564688 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS3 Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis 4, Juvenile MESH:C566550 OMIM:602433 MESH:D000690 C10.228.854.139/C566550|C10.574.562.250/C566550|C10.574.950.050/C566550|C10.668.467.250/C566550|C18.452.845.800.050/C566550 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS4|Neuronopathy, Distal Hereditary Motor, With Pyramidal Features Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis 5 MESH:C566576 OMIM:602099 MESH:D000690 C10.228.854.139/C566576|C10.574.562.250/C566576|C10.574.950.050/C566576|C10.668.467.250/C566576|C18.452.845.800.050/C566576 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS5|AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis 6, Autosomal Recessive MESH:C567699 OMIM:608030 MESH:D000690|MESH:D057180 C10.228.140.380.266.299/C567699|C10.228.854.139/C567699|C10.574.562.250/C567699|C10.574.950.050/C567699|C10.574.950.300.299/C567699|C10.668.467.250/C567699|C18.452.845.800.050/C567699|C18.452.845.800.300.299/C567699|F03.615.400.380.299/C567699 C10.228.140.380.266.299|C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.574.950.300.299|C10.668.467.250|C18.452.845.800.050|C18.452.845.800.300.299|F03.615.400.380.299 ALS6|AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA Mental disorder|Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis 7 MESH:C564300 OMIM:608031 MESH:D000690 C10.228.854.139/C564300|C10.574.562.250/C564300|C10.574.950.050/C564300|C10.668.467.250/C564300|C18.452.845.800.050/C564300 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS7 Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis 8 MESH:C563895 OMIM:608627 MESH:D000690 C10.228.854.139/C563895|C10.574.562.250/C563895|C10.574.950.050/C563895|C10.668.467.250/C563895|C18.452.845.800.050/C563895 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS8 Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis 9 MESH:C567499 OMIM:611895 MESH:D000690 C10.228.854.139/C567499|C10.574.562.250/C567499|C10.574.950.050/C567499|C10.668.467.250/C567499|C18.452.845.800.050/C567499 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 ALS9 Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis, Autosomal Recessive MESH:C566290 MESH:D000690 C10.228.854.139/C566290|C10.574.562.250/C566290|C10.574.950.050/C566290|C10.668.467.250/C566290|C18.452.845.800.050/C566290 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis, Juvenile, with Dementia MESH:C565956 MESH:D000690|MESH:D003704 C10.228.140.380/C565956|C10.228.854.139/C565956|C10.574.562.250/C565956|C10.574.950.050/C565956|C10.668.467.250/C565956|C18.452.845.800.050/C565956|F03.615.400/C565956 C10.228.140.380|C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050|F03.615.400 ALS-Dementia Complex Mental disorder|Metabolic disease|Nervous system disease AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 OMIM:105500 DO:DOID:0111246 MESH:D000690|MESH:D003704|MESH:D010300 C10.228.140.079.862.500/105500|C10.228.140.380/105500|C10.228.662.600.400/105500|C10.228.854.139/105500|C10.574.562.250/105500|C10.574.928.750/105500|C10.574.950.050/105500|C10.668.467.250/105500|C18.452.845.800.050/105500|F03.615.400/105500 C10.228.140.079.862.500|C10.228.140.380|C10.228.662.600.400|C10.228.854.139|C10.574.562.250|C10.574.928.750|C10.574.950.050|C10.668.467.250|C18.452.845.800.050|F03.615.400 ALS-PDC|AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX OF GUAM|GUAM DISEASE Mental disorder|Metabolic disease|Nervous system disease Amyotrophic lateral sclerosis, type 6 MESH:C538251 MESH:D000690 C10.228.854.139/C538251|C10.574.562.250/C538251|C10.574.950.050/C538251|C10.668.467.250/C538251|C18.452.845.800.050/C538251 C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 Amyotrophic Lateral Sclerosis 6 Metabolic disease|Nervous system disease Amyotrophic Lateral Sclerosis With Polyglucosan Bodies MESH:C565955 MESH:D000690|MESH:D020191 C10.228.140.490.375.130.650/C565955|C10.228.140.490.493.063.650/C565955|C10.228.854.139/C565955|C10.574.562.250/C565955|C10.574.950.050/C565955|C10.668.467.250/C565955|C18.452.845.800.050/C565955 C10.228.140.490.375.130.650|C10.228.140.490.493.063.650|C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.668.467.250|C18.452.845.800.050 Metabolic disease|Nervous system disease Amyotrophy, monomelic MESH:C538253 MESH:D014897 C10.228.854.468.800/C538253|C10.574.500.812/C538253|C10.574.562.500.750/C538253|C10.668.467.500.750/C538253|C16.320.400.765/C538253 C10.228.854.468.800|C10.574.500.812|C10.574.562.500.750|C10.668.467.500.750|C16.320.400.765 Hirayama disease|Monomelic amyotrophy|Spinal muscular atrophy juvenile nonprogressive|Spinal Muscular Atrophy, Juvenile, Nonprogressive Genetic disease (inborn)|Nervous system disease Anal Atresia, Hypospadias, and Penoscrotal Inversion MESH:C566526 MESH:D001006|MESH:D007021 C06.198.050/C566526|C12.050.351.875.466/C566526|C12.100.500.494.400/C566526|C12.200.294.494.400/C566526|C12.200.706.516/C566526|C12.800.516/C566526|C16.131.314.094/C566526|C16.131.939.516/C566526 C06.198.050|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.314.094|C16.131.939.516 Congenital abnormality|Digestive system disease|Urogenital disease (female)|Urogenital disease (male) Anal Canal Carcinoma MESH:C563020 DO:DOID:6126|OMIM:105580 MESH:D001005 C04.588.274.476.411.307.790.040/C563020|C06.301.371.411.307.790.040/C563020|C06.405.249.411.307.790.040/C563020|C06.405.469.491.307.790.040/C563020|C06.405.469.860.101.163/C563020|C06.405.469.860.180.500.040/C563020 C04.588.274.476.411.307.790.040|C06.301.371.411.307.790.040|C06.405.249.411.307.790.040|C06.405.469.491.307.790.040|C06.405.469.860.101.163|C06.405.469.860.180.500.040 Cloacogenic Carcinoma|CLOACOGENIC CARCINOMA, INCLUDED Cancer|Digestive system disease Anal Gland Neoplasms MESH:D000694 DO:DOID:4550 Tumors or cancer of the anal gland. MESH:D000820|MESH:D001005|MESH:D009371 C04.588.083|C04.588.274.476.411.307.790.040.040|C06.301.371.411.307.790.040.040|C06.405.249.411.307.790.040.040|C06.405.469.491.307.790.040.040|C06.405.469.860.101.163.083|C06.405.469.860.180.500.040.040|C22.073 C04.588|C04.588.274.476.411.307.790.040|C06.301.371.411.307.790.040|C06.405.249.411.307.790.040|C06.405.469.491.307.790.040|C06.405.469.860.101.163|C06.405.469.860.180.500.040|C22 Anal Gland Neoplasm|Circumanal Gland Neoplasm|Circumanal Gland Neoplasms|Neoplasm, Anal Gland|Neoplasm, Circumanal Gland|Neoplasm, Perianal Gland|Neoplasms, Anal Gland|Neoplasms, Circumanal Gland|Neoplasms, Perianal Gland|Perianal Gland Neoplasm|Perianal Gland Neoplasms Animal disease|Cancer|Digestive system disease Anal sphincter dysplasia MESH:C538254 OMIM:105563 MESH:D003248|MESH:D004476|MESH:D004688|MESH:D005242 C06.405.469.860.300/C538254|C16.131.077.350/C538254|C16.131.831.350/C538254|C16.320.850.250/C538254|C17.800.804.350/C538254|C17.800.827.250/C538254|C23.888.821.150/C538254|C23.888.821.266/C538254|F03.388.300/C538254 C06.405.469.860.300|C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.888.821.150|C23.888.821.266|F03.388.300 ASDP Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Mental disorder|Signs and symptoms|Skin disease Anal Sphincter Myopathy, Internal MESH:C566287 MESH:D009135 C05.651/C566287|C10.668.491/C566287 C05.651|C10.668.491 Proctalgia Fugax due to Anal Sphincter Myopathy Musculoskeletal disease|Nervous system disease Anaphylaxis MESH:D000707 An acute hypersensitivity reaction due to exposure to a previously encountered ANTIGEN. The reaction may include rapidly progressing URTICARIA, respiratory distress, vascular collapse, systemic SHOCK, and death. MESH:D006969 C20.543.480.099 C20.543.480 Anaphylactic Reaction|Anaphylactic Reactions|Anaphylactic Shock|Anaphylactoid Reaction|Anaphylactoid Reactions|Anaphylactoid Shock|Reaction, Anaphylactic|Reaction, Anaphylactoid|Shock, Anaphylactic|Shock, Anaphylactoid Immune system disease Anaplasia MESH:D000708 Loss of structural differentiation and useful function of neoplastic cells. MESH:D009385 C04.697.045|C23.550.727.045 C04.697|C23.550.727 Anaplasias Cancer|Pathology (process) Anaplasmataceae Infections MESH:D000711 Infections with bacteria of the family ANAPLASMATACEAE. MESH:D016905 C01.150.252.400.054 C01.150.252.400 Anaplasmataceae Infection|Haemobartonelloses|Haemobartonellosis|Infection, Anaplasmataceae|Infections, Anaplasmataceae Bacterial infection or mycosis Anaplasmosis MESH:D000712 A disease usually in cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA. MESH:D000711|MESH:D000820|MESH:D017282 C01.150.252.400.054.500|C01.920.930.163|C22.085 C01.150.252.400.054|C01.920.930|C22 Anaplasma Infection|Anaplasma Infections|Anaplasma phagocytophilum Infection|Anaplasma phagocytophilum Infections|Anaplasmoses|Anaplasmoses, Human|Anaplasmoses, Human Granulocytic|Anaplasmosis, Human|Anaplasmosis, Human Granulocytic|Granulocytic Anaplasmoses, Human|Granulocytic Anaplasmosis, Human|Human Anaplasmoses|Human Anaplasmosis|Human Granulocytic Anaplasmoses|Human Granulocytic Anaplasmosis|Infection, Anaplasma|Infections, Anaplasma Animal disease|Bacterial infection or mycosis Anaplastic small cell lymphoma MESH:C538255 MESH:D008228 C04.557.386.480/C538255|C15.604.515.569.480/C538255|C20.683.515.761.480/C538255 C04.557.386.480|C15.604.515.569.480|C20.683.515.761.480 Small cell variant of anaplastic large cell lymphoma Cancer|Immune system disease|Lymphatic disease Anastomotic Leak MESH:D057868 Breakdown of the connection and subsequent leakage of effluent (fluids, secretions, air) from a SURGICAL ANASTOMOSIS of the digestive, respiratory, genitourinary, and cardiovascular systems. Most common leakages are from the breakdown of suture lines in gastrointestinal or bowel anastomosis. MESH:D011183 C23.550.767.071 C23.550.767 Anastomotic Leakage|Anastomotic Leakages|Anastomotic Leaks|Leakage, Anastomotic|Leakages, Anastomotic|Leak, Anastomotic|Leaks, Anastomotic Pathology (process) Anauxetic dysplasia MESH:C538256 DO:DOID:0080942|OMIM:607095|OMIM:617396 MESH:D004392|MESH:D010009 C05.116.099.343/C538256|C05.116.099.708/C538256|C16.320.240/C538256|C16.320.728/C538256|C19.297/C538256 C05.116.099.343|C05.116.099.708|C16.320.240|C16.320.728|C19.297 ANAUXETIC DYSPLASIA|ANAUXETIC DYSPLASIA 1|ANAUXETIC DYSPLASIA 2|ANXD|ANXD1|ANXD2|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ANAUXETIC TYPE|Spondylometaepiphyseal dysplasia, Anauxetic type|Spondylometaepiphyseal dysplasia, Menger type Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Ancylostoma duodenale infection MESH:C538433 MESH:D000724 C01.610.335.508.700.775.455.154/C538433 C01.610.335.508.700.775.455.154 Parasitic disease Ancylostomiasis MESH:D000724 DO:DOID:12841 Infection of humans or animals with hookworms of the genus ANCYLOSTOMA. Characteristics include anemia, dyspepsia, eosinophilia, and abdominal swelling. MESH:D006725 C01.610.335.508.700.775.455.154 C01.610.335.508.700.775.455 Ancylostomiases Parasitic disease Andersen Syndrome MESH:D050030 DO:DOID:0050434|OMIM:170390 A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential. MESH:D008133 C14.280.067.565.070|C14.280.123.625.070|C16.131.240.400.715.070|C23.550.073.547.070 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 Andersen Cardiodysrhythmic Periodic Paralysis|Andersen Cardiodysrythmic Periodic Paralysis|ANDERSEN SYNDROME|Andersen Tawil Syndrome|Andersen-Tawil Syndrome|ATS|Long QT Syndrome 7|LQT7|Periodic Paralysis, Potassium Sensitive Cardiodysrhythmic Type|Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type|Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features|Syndrome, Andersen|Syndrome, Andersen Tawil Cardiovascular disease|Congenital abnormality|Pathology (process) Androblastoma of ovary MESH:C537588 MESH:D018310 C04.557.475.750.847/C537588|C04.588.322.455.648/C537588|C04.588.322.762.500/C537588|C04.588.945.440.915.500/C537588|C12.050.351.500.056.630.705.648/C537588|C12.050.351.937.418.685.648/C537588|C12.100.250.056.630.705.648/C537588|C12.100.500.260.937.500/C537588|C12.200.294.260.937.500/C537588|C12.200.758.409.937.500/C537588|C12.900.418.685.648/C537588|C12.900.619.937.500/C537588|C19.344.410.648/C537588|C19.344.762.500/C537588|C19.391.630.705.648/C537588|C19.391.829.782.500/C537588 C04.557.475.750.847|C04.588.322.455.648|C04.588.322.762.500|C04.588.945.440.915.500|C12.050.351.500.056.630.705.648|C12.050.351.937.418.685.648|C12.100.250.056.630.705.648|C12.100.500.260.937.500|C12.200.294.260.937.500|C12.200.758.409.937.500|C12.900.418.685.648|C12.900.619.937.500|C19.344.410.648|C19.344.762.500|C19.391.630.705.648|C19.391.829.782.500 Sertoli-leydig cell tumor of the ovary Cancer|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Androgen-Insensitivity Syndrome MESH:D013734 DO:DOID:0080775|DO:DOID:4674|OMIM:300068|OMIM:312300 A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY. MESH:D040181|MESH:D058490 C12.050.351.875.253.096.500|C12.200.706.316.096.500|C12.800.316.096.500|C16.131.939.316.096.500|C16.320.322.061|C19.391.119.096.500 C12.050.351.875.253.096|C12.200.706.316.096|C12.800.316.096|C16.131.939.316.096|C16.320.322|C19.391.119.096 AIS|Androgen Insensitivities, Partial|Androgen Insensitivity, Partial|ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER|Androgen Insensitivity Syndrome|Androgen Insensitivity Syndrome, Complete|Androgen-Insensitivity Syndrome, Complete|Androgen Insensitivity Syndrome, Partial|Androgen-Insensitivity Syndrome, Partial|Androgen Insensitivity Syndromes|Androgen-Insensitivity Syndromes|Androgen-Insensitivity Syndromes, Complete|Androgen-Insensitivity Syndromes, Partial|Androgen Receptor Deficiencies|Androgen Receptor Deficiency|Androgen Resistance Syndrome|Androgen Resistance Syndromes|AR Deficiencies|AR Deficiency|Complete Androgen-Insensitivity Syndrome|Complete Androgen-Insensitivity Syndromes|Deficiencies, Androgen Receptor|Deficiencies, AR|Deficiencies, DHTR|Deficiencies, Dihydrotestosterone Receptor|Deficiency, Androgen Receptor|Deficiency, AR|Deficiency, DHTR|Deficiency, Dihydrotestosterone Receptor|DHTR Deficiencies|DHTR Deficiency|Dihydrotestosterone Receptor Deficiencies|Dihydrotestosterone Receptor Deficiency|FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1|Feminizations, Testicular|Feminization Syndromes, Testicular|Feminization Syndrome, Testicular|Feminization, Testicular|Insensitivities, Partial Androgen|Insensitivity, Partial Androgen|Insensitivity Syndrome, Androgen|Insensitivity Syndromes, Androgen|Male Pseudohermaphroditism Due to Androgen Insensitivity|PAIS|Partial Androgen Insensitivities|Partial Androgen Insensitivity|Partial Androgen-Insensitivity Syndrome|Partial Androgen-Insensitivity Syndromes|Receptor Deficiencies, Androgen|Receptor Deficiencies, Dihydrotestosterone|Receptor Deficiency, Androgen|Receptor Deficiency, Dihydrotestosterone|Reifenstein's Syndrome|Reifensteins Syndrome|Reifenstein Syndrome|Resistance Syndrome, Androgen|Resistance Syndromes, Androgen|Testicular Feminization|Testicular Feminizations|Testicular Feminization Syndrome|Testicular Feminization Syndromes|TFM Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Androgen Insensitivity Syndrome due to Coactivator Deficiency MESH:C564545 MESH:D013734 C12.050.351.875.253.096.500/C564545|C12.200.706.316.096.500/C564545|C12.800.316.096.500/C564545|C16.131.939.316.096.500/C564545|C16.320.322.061/C564545|C19.391.119.096.500/C564545 C12.050.351.875.253.096.500|C12.200.706.316.096.500|C12.800.316.096.500|C16.131.939.316.096.500|C16.320.322.061|C19.391.119.096.500 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Anemia MESH:D000740 DO:DOID:2355 A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN. MESH:D006402 C15.378.071 C15.378 Anemias Blood disease Anemia, Aplastic MESH:D000741 DO:DOID:12449|OMIM:609135 A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. MESH:D000080983|MESH:D000740 C15.378.071.085|C15.378.190.223.250 C15.378.071|C15.378.190.223 Anaemia, Aplastic|Anemia, Hypoplastic|Aplastic Anaemia|Aplastic Anaemias|Aplastic Anemia|Aplastic Anemias|APLASTIC ANEMIA, SUSCEPTIBILITY TO, INCLUDED|Hypoplastic Anemia|Hypoplastic Anemias Blood disease Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies-Mental Retardation Syndrome MESH:C565796 MESH:D000015|MESH:D000741|MESH:D008607 C10.597.606.360/C565796|C15.378.071.085/C565796|C15.378.190.223.250/C565796|C16.131.077/C565796|C23.888.592.604.646/C565796|F03.625.539/C565796 C10.597.606.360|C15.378.071.085|C15.378.190.223.250|C16.131.077|C23.888.592.604.646|F03.625.539 Blood disease|Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms Anemia, Diamond-Blackfan MESH:D029503 DO:DOID:1339|OMIM:105650 A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94) MESH:D012010|MESH:D029502 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 C15.378.071.085.080|C15.378.071.750|C15.378.190.223.500.500|C16.320.077 AASE-SMITH SYNDROME II|AASE SYNDROME|Anemia, Blackfan Diamond|ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC|Anemia, Congenital Hypoplastic, Of Blackfan And Diamond|Anemia, Diamond Blackfan|Anemia, Diamond Blackfan Type|Anemia, Diamond-Blackfan Type|Anemia, Hypoplastic Congenital|Anemias, Hypoplastic Congenital|AREGENERATIVE ANEMIA, CHRONIC CONGENITAL|BDS|Blackfan Diamond Anemia|Blackfan Diamond Disease|Blackfan-Diamond Disease|Blackfan Diamond Syndrome|Blackfan-Diamond Syndrome|Chronic Congenital Agenerative Anemia|Congenital Anemia, Hypoplastic|Congenital Anemias, Hypoplastic|Congenital Erythroid Hypoplastic Anemia|Congenital Hypoplastic Anemia of Blackfan and Diamond|Congenital Pure Red Cell Anemia|Congenital Pure Red Cell Aplasia|DBA|DBA1|Diamond Anemia, Blackfan|Diamond Blackfan Anemia|Diamond-Blackfan Anemia|DIAMOND-BLACKFAN ANEMIA 1|Diamond-Blackfan Type Anemia|Disease, Blackfan-Diamond|Erythroblastopenia, Inherited|Erythroblastopenias, Inherited|Erythrogenesis Imperfecta|Erythrogenesis Imperfectas|Hypoplastic Congenital Anemia|Hypoplastic Congenital Anemias|Imperfecta, Erythrogenesis|Imperfectas, Erythrogenesis|Inherited Erythroblastopenia|Inherited Erythroblastopenias|Pure Hereditary Red Cell Aplasia|Red Cell Aplasia, Pure, Hereditary Blood disease|Genetic disease (inborn) Anemia, Diamond-Blackfan, 2 MESH:C536130 DO:DOID:0111885|OMIM:606129 MESH:D029503 C15.378.071.085.080.090/C536130|C15.378.071.750.500/C536130|C15.378.190.223.500.500.090/C536130|C16.320.077.090/C536130 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA2|Diamond-Blackfan Anemia 2|Diamond-Blackfan Anemia, 2 Blood disease|Genetic disease (inborn) Anemia, Diamond-Blackfan, 3 MESH:C536355 DO:DOID:0111887|OMIM:610629 MESH:D029503 C15.378.071.085.080.090/C536355|C15.378.071.750.500/C536355|C15.378.190.223.500.500.090/C536355|C16.320.077.090/C536355 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA3|Diamond-blackfan anemia 3 Blood disease|Genetic disease (inborn) Anemia, Dyserythropoietic, Congenital MESH:D000742 DO:DOID:0111397|DO:DOID:0111399|DO:DOID:0111401|DO:DOID:1338|OMIM:105600|OMIM:224100|OMIM:224120|OMIM:613673|OMIM:615631 A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test. MESH:D000745 C15.378.071.141.150.095|C16.320.070.095 C15.378.071.141.150|C16.320.070 Anemia, Congenital Dyserythropoietic|ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I|ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia|ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib|Anemia, Congenital Dyserythropoietic, Type II|ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III|ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa|ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV|Anemia, Dyserythropoietic, Congenital Type 1|Anemia, Dyserythropoietic, Congenital Type 2|Anemia, Dyserythropoietic Congenital, Type I|Anemia, Dyserythropoietic, Congenital, Type I|Anemia, Dyserythropoietic Congenital, Type II|Anemia, Dyserythropoietic, Congenital, Type II|Anemia, Dyserythropoietic Congenital, Type III|Anemia, Dyserythropoietic, Congenital, Type III|Anemias, Congenital Dyserythropoietic|Anemia With Multinucleated Erythroblasts|CDAN1A|CDAN1B|CDAN2|CDAN3|CDAN3A|CDAN4|CDA, TYPE Ia|CDA, TYPE Ib|CDA, TYPE II|CDA, TYPE III|CDA, TYPE IIIA|CDA, TYPE IV|Congenital Dyserythropoietic Anemia|Congenital Dyserythropoietic Anemias|Congenital Dyserythropoietic Anemia Type 1|Congenital Dyserythropoietic Anemia, Type I|Congenital Dyserythropoietic Anemia Type II|Congenital Dyserythropoietic Anemia, Type III|Dyserythropoietic Anemia, Congenital|Dyserythropoietic Anemia, Congenital Type 1|Dyserythropoietic Anemia, Congenital Type 2|Dyserythropoietic Anemia, Congenital, Type I|DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia|Dyserythropoietic Anemia, Congenital, Type II|Dyserythropoietic Anemia, Congenital, Type III|DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IIIA|Dyserythropoietic Anemia, HEMPAS Type|Dyserythropoietic Anemias, Congenital|ERYTHRORETICULOSIS, HEREDITARY BENIGN|HEMPAS|HEMPAS Anemia|HEMPAS Anemias|Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test|Hereditary Erythroblast Multinuclearity with Positive Acidified Serum|Type I Congenital Dyserythropoietic Anemia Blood disease|Genetic disease (inborn) Anemia, Hemolytic MESH:D000743 DO:DOID:583 A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES). MESH:D000740 C15.378.071.141 C15.378.071 Acquired Hemolytic Anemia|Anaemia, Haemolytic|Anemia, Acquired Hemolytic|Anemia, Hemolytic, Acquired|Anemia, Microangiopathic|Anemia, Microangiopathic Hemolytic|Haemolytic Anaemia|Haemolytic Anaemias|Hemolytic Anemia|Hemolytic Anemia, Acquired|Hemolytic Anemia, Microangiopathic|Microangiopathic Anemia|Microangiopathic Hemolytic Anemia|Microangiopathic Hemolytic Anemias Blood disease Anemia, Hemolytic, Autoimmune MESH:D000744 DO:DOID:718|OMIM:205700 Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS. MESH:D000743|MESH:D001327 C15.378.071.141.125|C20.111.175 C15.378.071.141|C20.111 Acquired Autoimmune Hemolytic Anemia|Agglutinin Disease, Cold|Anaemia, Autoimmune Haemolytic|Anemia, Autoimmune Hemolytic|Anemia, Hemolytic, Cold Antibody|Anemia, Hemolytic, Idiopathic Acquired|Autoimmune Haemolytic Anaemia|Autoimmune Haemolytic Anaemias|Autoimmune Hemolytic Anemia|Autoimmune Hemolytic Anemias|Cold Agglutinin Disease|Cold Agglutinin Diseases|Cold Antibody Disease|Cold Antibody Diseases|Cold Antibody Hemolytic Anemia|Haemolytic Anaemia, Autoimmune|Hemolytic Anemia, Autoimmune|Idiopathic Autoimmune Hemolytic Anemia Blood disease|Immune system disease Anemia, Hemolytic, Congenital MESH:D000745 DO:DOID:589 Hemolytic anemia due to various intrinsic defects of the erythrocyte. MESH:D000743|MESH:D030342 C15.378.071.141.150|C16.320.070 C15.378.071.141|C16.320 Anemia, Congenital Hemolytic|Anemia, Hemolytic, Hereditary|Anemia, Hereditary Hemolytic|Anemias, Congenital Hemolytic|Anemias, Hereditary Hemolytic|Congenital Hemolytic Anemia|Congenital Hemolytic Anemias|Hemolytic Anemia, Congenital|Hemolytic Anemia, Hereditary|Hemolytic Anemias, Congenital|Hemolytic Anemias, Hereditary|Hereditary Hemolytic Anemia|Hereditary Hemolytic Anemias Blood disease|Genetic disease (inborn) Anemia, Hemolytic, Congenital Nonspherocytic MESH:D000746 DO:DOID:2861 Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE. MESH:D000745 C15.378.071.141.150.100|C16.320.070.100 C15.378.071.141.150|C16.320.070 Anemia, Congenital Nonspherocytic Hemolytic|Anemia, Hemolytic Congenital, Nonspherocytic|Congenital Nonspherocytic Hemolytic Anemia|Hemolytic Anemia, Congenital Nonspherocytic Blood disease|Genetic disease (inborn) Anemia, hereditary spherocytic hemolytic MESH:C536356 MESH:D013103|MESH:D041781 C15.378.071.141.150.785/C536356|C16.320.070.785/C536356|C23.550.429.500.755/C536356|C23.888.885.375.500/C536356 C15.378.071.141.150.785|C16.320.070.785|C23.550.429.500.755|C23.888.885.375.500 Acholuric jaundice|Chronic acholuric jaundice|Congenital hemolytic jaundice|Debrie's familial haemolytic disease|Minkowski-Chauffard disease|Minkowski-Chauffard-Gänsslen syndrome|Minkowski-Chauffard haemolytic jaundice Blood disease|Genetic disease (inborn)|Pathology (process)|Signs and symptoms Anemia, Hypochromic MESH:D000747 DO:DOID:11759 Anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. The individual cells contain less hemoglobin than they could have under optimal conditions. Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections or other diseases, therapeutic drugs, lead poisoning, and other conditions. (Stedman, 25th ed; from Miale, Laboratory Medicine: Hematology, 6th ed, p393) MESH:D000740 C15.378.071.196 C15.378.071 Anemias, Hypochromic|Chloroses|Chlorosis|Hypochromic Anemia|Hypochromic Anemias Blood disease Anemia, hypochromic microcytic MESH:C536357 MESH:D000747 C15.378.071.196/C536357 C15.378.071.196 Blood disease Anemia, Hypochromic Microcytic, With Iron Overload MESH:C567144 OMIM:206100|OMIM:615234 MESH:D000756 C15.378.071.419/C567144|C15.378.190.625.070/C567144 C15.378.071.419|C15.378.190.625.070 AHMIO1|AHMIO2|ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1|ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 Blood disease Anemia, Hypoplastic, Congenital MESH:D029502 DO:DOID:1342 An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA. MESH:D000080984|MESH:D000741|MESH:D030342 C15.378.071.085.080|C15.378.190.223.500.500|C16.320.077 C15.378.071.085|C15.378.190.223.500|C16.320 Anemia, Congenital Hypoplastic|Anemias, Congenital Hypoplastic|Congenital Hypoplastic Anemia|Congenital Hypoplastic Anemias|Hypoplastic Anemia, Congenital|Hypoplastic Anemias, Congenital Blood disease|Genetic disease (inborn) Anemia, Iron-Deficiency MESH:D018798 Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased. MESH:D000090463|MESH:D000747 C15.378.071.196.300|C18.452.565.400.500 C15.378.071.196|C18.452.565.400 Anemia, Iron Deficiency|Anemias, Iron Deficiency|Anemias, Iron-Deficiency|Iron Deficiency Anemia|Iron-Deficiency Anemia|Iron Deficiency Anemias|Iron-Deficiency Anemias Blood disease|Metabolic disease Anemia, Macrocytic MESH:D000748 DO:DOID:2361 Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). MESH:D000740 C15.378.071.252 C15.378.071 Anemias, Macrocytic|Macrocytic Anemia|Macrocytic Anemias Blood disease Anemia, Megaloblastic MESH:D000749 DO:DOID:13382 A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS. MESH:D000748 C15.378.071.252.196 C15.378.071.252 Anemias, Megaloblastic|Megaloblastic Anemia|Megaloblastic Anemias Blood disease Anemia, Myelophthisic MESH:D000750 DO:DOID:2354 Anemia characterized by appearance of immature myeloid and nucleated erythrocytes in the peripheral blood, resulting from infiltration of the bone marrow by foreign or abnormal tissue. MESH:D000740|MESH:D009196 C15.378.071.307|C15.378.190.636.085 C15.378.071|C15.378.190.636 Anemia, Leukoerythroblastic|Anemias, Leukoerythroblastic|Anemias, Myelophthisic|Leukoerythroblastic Anemia|Leukoerythroblastic Anemias|Myelophthisic Anemia|Myelophthisic Anemias Blood disease Anemia, Neonatal MESH:D000751 DO:DOID:11244 The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation. MESH:D000740|MESH:D007232 C15.378.071.363|C16.614.053 C15.378.071|C16.614 Anemia Neonatorum|Anemias, Neonatal|Neonatal Anemia|Neonatal Anemias Blood disease|Infant-newborn disease Anemia, Nonspherocytic Hemolytic, associated with Abnormality of Red Cell Membrane MESH:C565953 MESH:D000746 C15.378.071.141.150.100/C565953|C16.320.070.100/C565953 C15.378.071.141.150.100|C16.320.070.100 Blood disease|Genetic disease (inborn) Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency MESH:C567533 MESH:D005955|MESH:D040181 C15.378.071.141.150.480/C567533|C16.320.070.480/C567533|C16.320.322/C567533|C16.320.565.202.402/C567533|C18.452.648.202.402/C567533 C15.378.071.141.150.480|C16.320.070.480|C16.320.322|C16.320.565.202.402|C18.452.648.202.402 Blood disease|Genetic disease (inborn)|Metabolic disease ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY OMIM:300908 DO:DOID:2861 MESH:C567533|MESH:D005236 C15.378.071.141.150.480.370/300908|C15.378.071.141.150.480/C567533/300908|C15.378.071.141.370/300908|C16.320.070.480.370/300908|C16.320.070.480/C567533/300908|C16.320.322/C567533/300908|C16.320.565.202.402/C567533/300908|C18.452.648.202.402/C567533/300908|C25.723.415.341/300908|C25.723.756.375/300908 C15.378.071.141.150.480.370|C15.378.071.141.150.480/C567533|C15.378.071.141.370|C16.320.070.480.370|C16.320.070.480/C567533|C16.320.322/C567533|C16.320.565.202.402/C567533|C18.452.648.202.402/C567533|C25.723.415.341|C25.723.756.375 FAVISM, SUSCEPTIBILITY TO Blood disease|Genetic disease (inborn)|Metabolic disease Anemia, Nonspherocytic Hemolytic, possibly due to Defect in Porphyrin Metabolism MESH:C565952 MESH:D000746 C15.378.071.141.150.100/C565952|C16.320.070.100/C565952 C15.378.071.141.150.100|C16.320.070.100 Blood disease|Genetic disease (inborn) Anemia, Pernicious MESH:D000752 DO:DOID:13381 A megaloblastic anemia occurring in children but more commonly in later life, characterized by histamine-fast achlorhydria, in which the laboratory and clinical manifestations are based on malabsorption of vitamin B 12 due to a failure of the gastric mucosa to secrete adequate and potent intrinsic factor. (Dorland, 27th ed) MESH:D000749|MESH:D014806 C15.378.071.252.196.500|C18.654.521.500.133.699.923.280 C15.378.071.252.196|C18.654.521.500.133.699.923 Addison Anemia|Addison's Anemia|Addisons Anemia|Anemia, Addison|Anemia, Addison's|Anemia, Addisons|Pernicious Anemia Blood disease|Nutrition disorder Anemia, Refractory MESH:D000753 A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy. MESH:D000740|MESH:D009190 C15.378.071.400|C15.378.190.625.062 C15.378.071|C15.378.190.625 Anemias, Refractory|Refractory Anemia|Refractory Anemias Blood disease Anemia, Refractory, with Excess of Blasts MESH:D000754 Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells. MESH:D000753 C15.378.071.400.080|C15.378.190.625.062.080 C15.378.071.400|C15.378.190.625.062 Leukemia, Smoldering|Leukemia, Smouldering|Leukemias, Smoldering|RAEB|RAEM|Refractory Anemia with Excess of Blasts|Smoldering Leukemia|Smoldering Leukemias|Smouldering Leukemia Blood disease Anemia, Sickle Cell MESH:D000755 DO:DOID:10923|OMIM:603903 A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S. MESH:D000745|MESH:D006453 C15.378.071.141.150.150|C15.378.420.155|C16.320.070.150|C16.320.365.155 C15.378.071.141.150|C15.378.420|C16.320.070|C16.320.365 Anemias, Sickle Cell|Cell Disease, Sickle|Cell Diseases, Sickle|Cell Disorder, Sickle|Cell Disorders, Sickle|Disease, Hemoglobin S|HbS Disease|Hemoglobin S Disease|Hemoglobin S Diseases|Sickle Cell Anemia|Sickle Cell Anemias|Sickle Cell Disease|Sickle Cell Diseases|Sickle Cell Disorder|Sickle Cell Disorders|Sickling Disorder Due to Hemoglobin S Blood disease|Genetic disease (inborn) Anemia, Sideroblastic MESH:D000756 DO:DOID:8955|OMIM:182170 Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow. MESH:D000740|MESH:D009190 C15.378.071.419|C15.378.190.625.070 C15.378.071|C15.378.190.625 ANEMIA, SIDEROBLASTIC, 4|Anemias, Sideroblastic|SIDBA4|Sideroblastic Anemia|Sideroblastic Anemias Blood disease Anemia, Sideroblastic, Autosomal Dominant MESH:C567160 MESH:D000756 C15.378.071.419/C567160|C15.378.190.625.070/C567160 C15.378.071.419|C15.378.190.625.070 Blood disease Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive MESH:C567145 OMIM:205950|OMIM:616860 MESH:D000756 C15.378.071.419/C567145|C15.378.190.625.070/C567145 C15.378.071.419|C15.378.190.625.070 ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY|ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY|SIDBA2|SIDBA3 Blood disease Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive MESH:C565954 MESH:D000756 C15.378.071.419/C565954|C15.378.190.625.070/C565954 C15.378.071.419|C15.378.190.625.070 Anemia, Congenital Sideroblastic, B6-Responsive Blood disease Anemia, sideroblastic spinocerebellar ataxia MESH:C536358 OMIM:301310 MESH:D000756|MESH:D020754|MESH:D040181 C10.228.140.252.190.530/C536358|C10.228.140.252.700.700/C536358|C10.228.854.787.875/C536358|C10.574.500.825.700/C536358|C10.597.350.090.500.530/C536358|C15.378.071.419/C536358|C15.378.190.625.070/C536358|C16.320.322/C536358|C16.320.400.780.875/C536358 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C15.378.071.419|C15.378.190.625.070|C16.320.322|C16.320.400.780.875 Anemia, Sex-Linked Hypochromic Siderobla|Anemia, Sideroblastic, and Spinocerebellar Ataxia|ASAT|Pagon Bird Detter syndrome|Sideroblastic anemia with spinocerebellar ataxia|X-Linked Sideroblastic Anemia and Ataxia|Xlsa-A Blood disease|Genetic disease (inborn)|Nervous system disease ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES OMIM:300835 DO:DOID:0112156 MESH:D000740|MESH:D001791|MESH:D009503 C15.378.071/300835|C15.378.140/300835|C15.378.553.546.184.564/300835 C15.378.071|C15.378.140|C15.378.553.546.184.564 XLANP Blood disease Anemia, X-Linked, without Thrombocytopenia MESH:C564429 MESH:D000740|MESH:D040181 C15.378.071/C564429|C16.320.322/C564429 C15.378.071|C16.320.322 Blood disease|Genetic disease (inborn) Anencephaly MESH:D000757 DO:DOID:0060668|OMIM:206500 A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247) MESH:D009008|MESH:D009436 C10.500.680.196|C16.131.085.197|C16.131.666.680.196 C10.500.680|C16.131.085|C16.131.666.680 Absence of Brain, Congenital|Anencephalia|Anencephalias|Anencephalies, Partial|Anencephalus|ANENCEPHALY 1|Anencephaly, Hemicranial|Anencephaly, Incomplete|Anencephaly, Partial|ANPH|ANPH1|Aprosencephalies|Aprosencephaly|Brain Congenital Absence|Congenital Absence of Brain|Hemicranial Anencephaly|Incomplete Anencephaly|Partial Anencephalies|Partial Anencephaly Congenital abnormality|Nervous system disease Anencephaly and spina bifida X-linked MESH:C536359 MESH:D000757|MESH:D016135|MESH:D040181 C10.500.680.196/C536359|C10.500.680.800/C536359|C16.131.085.197/C536359|C16.131.666.680.196/C536359|C16.131.666.680.800/C536359|C16.320.322/C536359 C10.500.680.196|C10.500.680.800|C16.131.085.197|C16.131.666.680.196|C16.131.666.680.800|C16.320.322 X-linked anencephaly-spina bifida Congenital abnormality|Genetic disease (inborn)|Nervous system disease Anetoderma MESH:D057088 Benign DERMATOSIS caused by a loss of dermal ELASTIC TISSUE resulting in localized sac-like areas of flaccid skin. It can be either primary (idiopathic) or secondary to other skin conditions, PENICILLAMINE use, or premature birth. MESH:D003240|MESH:D012868 C17.300.116|C17.800.804.108 C17.300|C17.800.804 Anetoderma, Primary|Anetodermas|Anetoderma, Secondary|Anetodermas, Primary|Anetodermas, Secondary|Primary Anetoderma|Primary Anetodermas|Secondary Anetoderma|Secondary Anetodermas Connective tissue disease|Skin disease Aneuploidy MESH:D000782 The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). MESH:D002869 C23.550.210.050 C23.550.210 Aneuploid|Aneuploid Cell|Aneuploid Cells|Aneuploidies|Aneuploids|Cell, Aneuploid|Cells, Aneuploid Pathology (process) Aneurysm MESH:D000783 DO:DOID:178 Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics. MESH:D014652 C14.907.055 C14.907 Aneurysm, Fusiform|Aneurysms|Aneurysms, Fusiform|Fusiform Aneurysm|Fusiform Aneurysms|Saccular Aneurysm Cardiovascular disease Aneurysm, Aortic Arch MESH:D000094626 An abnormal balloon- or sac-like dilatation in the wall of the AORTIC ARCH. MESH:D017545 C14.907.055.239.125.250|C14.907.109.139.125.250 C14.907.055.239.125|C14.907.109.139.125 Aortic Arch Aneurysm|Aortic Arch Aneurysms|Arch Aneurysm, Aortic Cardiovascular disease Aneurysm, Ascending Aorta MESH:D000094625 An abnormal balloon- or sac-like dilatation in the wall of the ASCENDING AORTA. MESH:D017545 C14.907.055.239.125.500|C14.907.109.139.125.500 C14.907.055.239.125|C14.907.109.139.125 AAA Ascending Aorta Aneurysm|Aneurysm, Ascending Aortic|Aorta Aneurysm, Ascending|Aortic Aneurysm, Ascending|Ascending Aorta Aneurysm|Ascending Aorta Aneurysms|Ascending Aortic Aneurysm|Ascending Aortic Aneurysms Cardiovascular disease Aneurysm, False MESH:D017541 Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue. MESH:D014652 C14.907.065 C14.907 Aneurysms, False|False Aneurysm|False Aneurysms|Pseudoaneurysm|Pseudoaneurysms Cardiovascular disease Aneurysm, Infected MESH:D000785 Aneurysm due to growth of microorganisms in the arterial wall, or infection arising within preexisting arteriosclerotic aneurysms. MESH:D000783|MESH:D007239 C01.069|C14.907.055.131 C01|C14.907.055 Aneurysm, Bacterial|Aneurysm, Fungal|Aneurysm, Mycotic|Aneurysms, Bacterial|Aneurysms, Fungal|Aneurysms, Infected|Aneurysms, Mycotic|Bacterial Aneurysm|Bacterial Aneurysms|Fungal Aneurysm|Fungal Aneurysms|Infected Aneurysm|Infected Aneurysms|Mycotic Aneurysm|Mycotic Aneurysms Cardiovascular disease Aneurysm, Intracranial Berry, 1 MESH:C566284 OMIM:105800 MESH:D002532|MESH:D013345 C10.228.140.300.510.600/C566284|C10.228.140.300.535.800/C566284|C14.907.055.635/C566284|C14.907.253.560.300/C566284|C14.907.253.573.800/C566284|C23.550.414.913.850/C566284 C10.228.140.300.510.600|C10.228.140.300.535.800|C14.907.055.635|C14.907.253.560.300|C14.907.253.573.800|C23.550.414.913.850 Aneurysmal Subarachnoid Hemorrhage, Familial|ANIB1 Cardiovascular disease|Nervous system disease|Pathology (process) Aneurysm, Intracranial Berry, 10 MESH:C567237 OMIM:612587 MESH:D002532 C10.228.140.300.510.600/C567237|C14.907.055.635/C567237|C14.907.253.560.300/C567237 C10.228.140.300.510.600|C14.907.055.635|C14.907.253.560.300 ANIB10 Cardiovascular disease|Nervous system disease Aneurysm, intracranial berry, 2 MESH:C536360 OMIM:608542 MESH:D002532 C10.228.140.300.510.600/C536360|C14.907.055.635/C536360|C14.907.253.560.300/C536360 C10.228.140.300.510.600|C14.907.055.635|C14.907.253.560.300 ANIB2 Cardiovascular disease|Nervous system disease Aneurysm, Intracranial Berry, 3 MESH:C563792 OMIM:609122 MESH:D002532 C10.228.140.300.510.600/C563792|C14.907.055.635/C563792|C14.907.253.560.300/C563792 C10.228.140.300.510.600|C14.907.055.635|C14.907.253.560.300 ANIB3 Cardiovascular disease|Nervous system disease Aneurysm, Intracranial Berry, 4 MESH:C565700 OMIM:610213 MESH:D002532|MESH:D013345 C10.228.140.300.510.600/C565700|C10.228.140.300.535.800/C565700|C14.907.055.635/C565700|C14.907.253.560.300/C565700|C14.907.253.573.800/C565700|C23.550.414.913.850/C565700 C10.228.140.300.510.600|C10.228.140.300.535.800|C14.907.055.635|C14.907.253.560.300|C14.907.253.573.800|C23.550.414.913.850 ANIB4 Cardiovascular disease|Nervous system disease|Pathology (process) Aneurysm, Intracranial Berry, 5 MESH:C563670 MESH:D002532|MESH:D040181 C10.228.140.300.510.600/C563670|C14.907.055.635/C563670|C14.907.253.560.300/C563670|C16.320.322/C563670 C10.228.140.300.510.600|C14.907.055.635|C14.907.253.560.300|C16.320.322 Cardiovascular disease|Genetic disease (inborn)|Nervous system disease Aneurysm, Intracranial Berry, 6 MESH:C567500 OMIM:611892 MESH:D002532|MESH:D013345 C10.228.140.300.510.600/C567500|C10.228.140.300.535.800/C567500|C14.907.055.635/C567500|C14.907.253.560.300/C567500|C14.907.253.573.800/C567500|C23.550.414.913.850/C567500 C10.228.140.300.510.600|C10.228.140.300.535.800|C14.907.055.635|C14.907.253.560.300|C14.907.253.573.800|C23.550.414.913.850 ANIB6 Cardiovascular disease|Nervous system disease|Pathology (process) Aneurysm, Intracranial Berry, 7 MESH:C567406 OMIM:612161 MESH:D002532|MESH:D013345 C10.228.140.300.510.600/C567406|C10.228.140.300.535.800/C567406|C14.907.055.635/C567406|C14.907.253.560.300/C567406|C14.907.253.573.800/C567406|C23.550.414.913.850/C567406 C10.228.140.300.510.600|C10.228.140.300.535.800|C14.907.055.635|C14.907.253.560.300|C14.907.253.573.800|C23.550.414.913.850 ANIB7 Cardiovascular disease|Nervous system disease|Pathology (process) Aneurysm, Intracranial Berry, 8 MESH:C567405 OMIM:612162 MESH:D002532|MESH:D013345 C10.228.140.300.510.600/C567405|C10.228.140.300.535.800/C567405|C14.907.055.635/C567405|C14.907.253.560.300/C567405|C14.907.253.573.800/C567405|C23.550.414.913.850/C567405 C10.228.140.300.510.600|C10.228.140.300.535.800|C14.907.055.635|C14.907.253.560.300|C14.907.253.573.800|C23.550.414.913.850 ANIB8 Cardiovascular disease|Nervous system disease|Pathology (process) Aneurysm, Intracranial Berry, 9 MESH:C567238 OMIM:612586 MESH:D002532|MESH:D013345 C10.228.140.300.510.600/C567238|C10.228.140.300.535.800/C567238|C14.907.055.635/C567238|C14.907.253.560.300/C567238|C14.907.253.573.800/C567238|C23.550.414.913.850/C567238 C10.228.140.300.510.600|C10.228.140.300.535.800|C14.907.055.635|C14.907.253.560.300|C14.907.253.573.800|C23.550.414.913.850 Anib9 Cardiovascular disease|Nervous system disease|Pathology (process) Aneurysm Of Interventricular Septum MESH:C563239 MESH:D006345 C14.240.400.560.540/C563239|C14.280.400.560.540/C563239|C16.131.240.400.560.540/C563239 C14.240.400.560.540|C14.280.400.560.540|C16.131.240.400.560.540 Cardiovascular disease|Congenital abnormality Aneurysm, Ruptured MESH:D017542 The tearing or bursting of the weakened wall of the aneurysmal sac, usually heralded by sudden worsening pain. The great danger of a ruptured aneurysm is the large amount of blood spilling into the surrounding tissues and cavities, causing HEMORRHAGIC SHOCK. MESH:D000783 C14.907.055.185 C14.907.055 Aneurysms, Ruptured|Ruptured Aneurysm|Ruptured Aneurysms Cardiovascular disease Angelman Syndrome MESH:D017204 DO:DOID:1932|OMIM:105830 A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence 'happy'); jerky puppetlike movements (hence 'puppet'); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35) MESH:D000015|MESH:D009069|MESH:D025063 C10.228.662.075|C16.131.077.095|C16.131.260.040|C16.320.180.040 C10.228.662|C16.131.077|C16.131.260|C16.320.180 ANCR, INCLUDED|AS|Children, Puppet|Happy Puppet Syndrome|HAPPY PUPPET SYNDROME, FORMERLY ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED|Puppet Children|Syndrome, Angelman|Syndrome, Happy Puppet Congenital abnormality|Genetic disease (inborn)|Nervous system disease Angel shaped phalangoepiphyseal dysplasia MESH:C536361 MESH:D001848 C05.116.099/C536361 C05.116.099 Angel-shaped phalango-epiphyseal dysplasia|Angel-Shaped Phalangoepiphyseal Dysplasia Musculoskeletal disease Angina Pectoris MESH:D000787 The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION. MESH:D002637|MESH:D017202 C14.280.647.187|C14.907.585.187|C23.888.592.612.233.500 C14.280.647|C14.907.585|C23.888.592.612.233 Angor Pectoris|Stenocardia|Stenocardias Cardiovascular disease|Signs and symptoms Angina Pectoris, Variant MESH:D000788 DO:DOID:0111151 A clinical syndrome characterized by the development of CHEST PAIN at rest with concomitant transient ST segment elevation in the ELECTROCARDIOGRAM, but with preserved exercise capacity. MESH:D000789 C14.280.647.187.150.150|C14.907.585.187.150.500|C23.888.592.612.233.500.150.150 C14.280.647.187.150|C14.907.585.187.150|C23.888.592.612.233.500.150 Angina, Prinzmetal|Angina, Prinzmetal's|Prinzmetal Angina|Prinzmetal's Angina|Prinzmetals Angina|Variant Angina Pectoris Cardiovascular disease|Signs and symptoms Angina, Stable MESH:D060050 Persistent and reproducible chest discomfort usually precipitated by a physical exertion that dissipates upon cessation of such an activity. The symptoms are manifestations of MYOCARDIAL ISCHEMIA. MESH:D000787 C14.280.647.187.362|C14.907.585.187.362|C23.888.592.612.233.500.575 C14.280.647.187|C14.907.585.187|C23.888.592.612.233.500 Angina, Chronic Stable|Angina Pectoris, Stable|Angina Pectori, Stable|Anginas, Chronic Stable|Anginas, Stable|Chronic Stable Angina|Chronic Stable Anginas|Pectoris, Stable Angina|Pectori, Stable Angina|Stable Angina|Stable Angina, Chronic|Stable Angina Pectori|Stable Angina Pectoris|Stable Anginas|Stable Anginas, Chronic Cardiovascular disease|Signs and symptoms Angina, Unstable MESH:D000789 DO:DOID:8805 Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION. MESH:D000787 C14.280.647.187.150|C14.907.585.187.150|C23.888.592.612.233.500.150 C14.280.647.187|C14.907.585.187|C23.888.592.612.233.500 Angina at Rest|Angina Pectoris, Unstable|Angina Pectori, Unstable|Angina, Preinfarction|Anginas, Preinfarction|Anginas, Unstable|Myocardial Preinfarction Syndrome|Myocardial Preinfarction Syndromes|Preinfarction Angina|Preinfarction Anginas|Preinfarction Syndrome, Myocardial|Preinfarction Syndromes, Myocardial|Syndrome, Myocardial Preinfarction|Syndromes, Myocardial Preinfarction|Unstable Angina|Unstable Angina Pectori|Unstable Angina Pectoris|Unstable Anginas Cardiovascular disease|Signs and symptoms Angiodysplasia MESH:D016888 DO:DOID:2494 Acquired degenerative dilation or expansion (ectasia) of normal BLOOD VESSELS, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the GASTROINTESTINAL TRACT leading to GASTROINTESTINAL HEMORRHAGE and ANEMIA. MESH:D014652 C14.907.075 C14.907 Angiodysplasias Cardiovascular disease Angioedema MESH:D000799 DO:DOID:1558 Swelling involving the deep DERMIS, subcutaneous, or submucosal tissues, representing localized EDEMA. Angioedema often occurs in the face, lips, tongue, and larynx. MESH:D014581|MESH:D014652 C14.907.079|C17.800.862.945.066|C20.543.480.904.066 C14.907|C17.800.862.945|C20.543.480.904 Angioedemas|Angioneurotic Edema|Angioneurotic Edemas|Edema, Angioneurotic|Edema, Quincke's|Edemas, Angioneurotic|Giant Urticaria|Giant Urticarias|Quincke Edema|Quincke's Edema|Quinckes Edema|Urticaria, Giant|Urticarias, Giant Cardiovascular disease|Immune system disease|Skin disease ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO OMIM:300909 MESH:D000799 C14.907.079/300909|C17.800.862.945.066/300909|C20.543.480.904.066/300909 C14.907.079|C17.800.862.945.066|C20.543.480.904.066 AEACEI Cardiovascular disease|Immune system disease|Skin disease Angioedemas, Hereditary MESH:D054179 DO:DOID:14735|OMIM:106100 Inherited disorders that are characterized by subcutaneous and submucosal EDEMA in the upper RESPIRATORY TRACT and GASTROINTESTINAL TRACT. MESH:D000081208|MESH:D000799 C14.907.079.500|C16.320.798.500.500|C17.800.862.945.066.500|C20.543.480.904.066.500|C20.673.795.500.500 C14.907.079|C16.320.798.500|C17.800.862.945.066|C20.543.480.904.066|C20.673.795.500 Angioedema, Hereditary|ANGIOEDEMA, HEREDITARY, 1|ANGIOEDEMA, HEREDITARY, TYPE I ANGIOEDEMA, HEREDITARY, 2, INCLUDED|ANGIOEDEMA, HEREDITARY, TYPE II, INCLUDED|Angioneurotic Edema, Hereditary|Angioneurotic Edemas, Hereditary|C1 Esterase Inhibitor Deficiency|C1 Inhibitor Deficiency|Edema, Hereditary Angioneurotic|Edemas, Hereditary Angioneurotic|HAE1|HAE2, INCLUDED|HANE|Hereditary Angioedema|Hereditary Angioedemas|Hereditary Angioneurotic Edema|Hereditary Angioneurotic Edemas Cardiovascular disease|Genetic disease (inborn)|Immune system disease|Skin disease Angiofibroma MESH:D018322 A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed) MESH:D009383 C04.557.645.100 C04.557.645 Angiofibromas Cancer Angiofollicular ganglionic hyperplasia MESH:C536362 DO:DOID:0111157 MESH:D005871 C15.604.515.245/C536362|C20.683.515.250/C536362 C15.604.515.245|C20.683.515.250 Immune system disease|Lymphatic disease Angioid Streaks MESH:D000793 DO:DOID:13401 Small breaks in the elastin-filled tissue of the retina. MESH:D012164 C11.768.094 C11.768 Angioid Streak|Streak, Angioid|Streaks, Angioid Eye disease Angiokeratoma MESH:D000794 DO:DOID:479 A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis. MESH:D009383 C04.557.645.115 C04.557.645 Angiokeratomas Cancer Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas MESH:C563940 MESH:D000795|MESH:D001164 C10.228.140.163.100.435.825.200/C563940|C10.228.140.300.275.374/C563940|C14.240.850.750.147/C563940|C14.240.850.984.750/C563940|C14.907.150.125/C563940|C14.907.253.329.374/C563940|C14.907.933.555/C563940|C16.131.240.850.750.125/C563940|C16.320.322.124/C563940|C16.320.565.189.435.825.200/C563940|C16.320.565.398.641.803.300/C563940|C16.320.565.595.554.825.200/C563940|C18.452.132.100.435.825.200/C563940|C18.452.584.563.641.803.300/C563940|C18.452.648.189.435.825.200/C563940|C18.452.648.398.641.803.300/C563940|C18.452.648.595.554.825.200/C563940|C23.300.575.950.250/C563940 C10.228.140.163.100.435.825.200|C10.228.140.300.275.374|C14.240.850.750.147|C14.240.850.984.750|C14.907.150.125|C14.907.253.329.374|C14.907.933.555|C16.131.240.850.750.125|C16.320.322.124|C16.320.565.189.435.825.200|C16.320.565.398.641.803.300|C16.320.565.595.554.825.200|C18.452.132.100.435.825.200|C18.452.584.563.641.803.300|C18.452.648.189.435.825.200|C18.452.648.398.641.803.300|C18.452.648.595.554.825.200|C23.300.575.950.250 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (anatomical condition) Angiolipoma MESH:D018206 DO:DOID:3616 A benign neoplasm composed of a mixture of adipose tissue and blood vessels. (Dorland, 27th ed) MESH:D018205 C04.557.450.550.100 C04.557.450.550 Angiolipomas Cancer Angiolipomatosis, Familial MESH:C565951 MESH:D018206 C04.557.450.550.100/C565951 C04.557.450.550.100 Angiolipoma Microthromboticum Cancer Angiolymphoid Hyperplasia with Eosinophilia MESH:D000796 DO:DOID:14308 Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells. MESH:D004802|MESH:D006099|MESH:D012871 C15.378.553.231.085|C15.604.515.292.007|C17.800.060 C15.378.553.231|C15.604.515.292|C17.800 Granuloma, Pseudopyogenic|Granulomas, Pseudopyogenic|Pseudopyogenic Granuloma|Pseudopyogenic Granulomas Blood disease|Lymphatic disease|Skin disease Angioma hereditary neurocutaneous MESH:C536364 MESH:D006391|MESH:D020752 C04.557.645.375/C536364|C10.562/C536364|C16.131.077.350.712/C536364|C16.131.831.350.712/C536364|C16.320.850.250.712/C536364|C17.800.804.350.712/C536364|C17.800.827.250.712/C536364 C04.557.645.375|C10.562|C16.131.077.350.712|C16.131.831.350.712|C16.320.850.250.712|C17.800.804.350.712|C17.800.827.250.712 Angioma, Hereditary Neurocutaneous|Hereditary neurocutaneous Angioma Cancer|Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease Angioma serpiginosum, autosomal dominant MESH:C536365 MESH:D017445 C17.800.862/C536365 C17.800.862 Autosomal dominant angioma serpiginosum Skin disease Angioma serpiginosum, X-linked MESH:C536366 OMIM:300652 MESH:D017445|MESH:D040181 C16.320.322/C536366|C17.800.862/C536366 C16.320.322|C17.800.862 Angioma serpiginosum Genetic disease (inborn)|Skin disease Angiomatosis MESH:D000798 A condition with multiple tumor-like lesions caused either by congenital or developmental malformations of BLOOD VESSELS, or reactive vascular proliferations, such as in bacillary angiomatosis. Angiomatosis is considered non-neoplastic. MESH:D014652 C14.907.077 C14.907 Angiomatoses Cardiovascular disease Angiomatosis, Bacillary MESH:D016917 DO:DOID:0060345 A reactive vascular proliferation that is characterized by the multiple tumor-like lesions in skin, bone, brain, and other organs. Bacillary angiomatosis is caused by infection with gram-negative Bartonella bacilli (such as BARTONELLA HENSELAE), and is often seen in AIDS patients and other IMMUNOCOMPROMISED HOSTS. MESH:D000798|MESH:D001474|MESH:D017192|MESH:D017445 C01.150.252.400.126.100.075|C01.150.252.819.150|C01.800.720.150|C14.907.077.060|C17.800.838.765.150|C17.800.862.060 C01.150.252.400.126.100|C01.150.252.819|C01.800.720|C14.907.077|C17.800.838.765|C17.800.862 Angiomatoses, Bacillary|Angiomatoses, Bacillary Epithelioid|Angiomatoses, Epithelioid|Angiomatosis, Bacillary Epithelioid|Angiomatosis, Epithelioid|Bacillary Angiomatoses|Bacillary Angiomatosis|Bacillary Epithelioid Angiomatoses|Bacillary Epithelioid Angiomatosis|Bacillary Pelioses|Bacillary Peliosis|Epithelioid Angiomatoses|Epithelioid Angiomatoses, Bacillary|Epithelioid Angiomatosis|Epithelioid Angiomatosis, Bacillary|Pelioses, Bacillary|Peliosis, Bacillary Bacterial infection or mycosis|Cardiovascular disease|Skin disease Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert MESH:C536367 MESH:D000798|MESH:D001932 C04.588.614.250.195/C536367|C10.228.140.211/C536367|C10.551.240.250/C536367|C14.907.077/C536367 C04.588.614.250.195|C10.228.140.211|C10.551.240.250|C14.907.077 Cancer|Cardiovascular disease|Nervous system disease Angiomyolipoma MESH:D018207 DO:DOID:3314 A benign tumor containing vascular, adipose, and muscle elements. It occurs most often in the kidney with smooth muscle elements (angiolipoleiomyoma) in association with tuberous sclerosis. (Dorland, 27th ed) MESH:D018205|MESH:D054973 C04.557.450.550.125|C04.557.450.692.249 C04.557.450.550|C04.557.450.692 Angiomyolipomas Cancer Angiomyoma MESH:D018229 DO:DOID:4265 A benign tumor consisting of vascular and smooth muscle elements. MESH:D007889 C04.557.450.590.450.125 C04.557.450.590.450 Angioleiomyoma|Angioleiomyomas|Angiomyomas|Leiomyomas, Vascular|Leiomyoma, Vascular|Vascular Leiomyoma|Vascular Leiomyomas Cancer Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps MESH:C567088 OMIM:611773 MESH:D009120|MESH:D011928 C05.651.475/C567088|C10.597.613.500/C567088|C14.907.355.830.573.750/C567088|C14.907.617.812/C567088|C17.800.862.406.750/C567088|C23.888.592.608.500/C567088 C05.651.475|C10.597.613.500|C14.907.355.830.573.750|C14.907.617.812|C17.800.862.406.750|C23.888.592.608.500 Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures|Hanac|Hanac Syndrome|Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps Syndrome|Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome Cardiovascular disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Angiosarcoma of the breast MESH:C536368 DO:DOID:4511 MESH:D001943|MESH:D006394 C04.557.450.795.390/C536368|C04.557.645.390/C536368|C04.588.180/C536368|C17.800.090.500/C536368 C04.557.450.795.390|C04.557.645.390|C04.588.180|C17.800.090.500 Breast angiosarcoma Cancer|Skin disease Angiostrongyliasis MESH:C536369 DO:DOID:0050256 MESH:D017206 C01.610.335.508.700.775/C536369 C01.610.335.508.700.775 Abdominal angiostrongyliasis|Angiostrongylus cantonensis infection|Angiostrongylus costaricensis infection|human eosinophilic meningitis|Intravitreal angiostrongyliasis|Parastrongylus costaricensis infection|Rat lungworm infection Parasitic disease Anhedonia MESH:D059445 Inability to experience pleasure due to impairment or dysfunction of normal psychological and neurobiological mechanisms. It is a symptom of many PSYCHOTIC DISORDERS (e.g., DEPRESSIVE DISORDER, MAJOR; and SCHIZOPHRENIA). MESH:D019954 C10.597.606.057|C23.888.592.604.039 C10.597.606|C23.888.592.604 Anhedonia, Physical|Anhedonias|Anhedonia, Social|Anhedonias, Physical|Anhedonias, Social|Physical Anhedonia|Physical Anhedonias|Social Anhedonia|Social Anhedonias Nervous system disease|Signs and symptoms ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS OMIM:106190 DO:DOID:0060603 MESH:D007007 C17.800.946.370/106190 C17.800.946.370 ANHD|DANN-EPSTEIN-SOHAR SYNDROME Skin disease Animal Diseases MESH:D000820 Diseases that occur in VERTEBRATE animals. MESH:C C22 C Diseases, Animal Animal disease Aniridia MESH:D015783 DO:DOID:12271|OMIM:106210|OMIM:617141|OMIM:617142 A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant. MESH:D005124|MESH:D007499|MESH:D015785 C11.250.060|C11.270.060|C11.941.375.060|C16.131.384.079|C16.320.290.078 C11.250|C11.270|C11.941.375|C16.131.384|C16.320.290 Absent Iris|AN|AN1|AN2|AN3|ANIRIDIA 1|ANIRIDIA 2|ANIRIDIA 3|ANIRIDIA II, FORMERLY;AN2, FORMERLY CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY, INCLUDED|Congenital Aniridia|Irideremia Congenital abnormality|Eye disease|Genetic disease (inborn) Aniridia and Absent Patella MESH:C566281 MESH:D015783 C11.250.060/C566281|C11.270.060/C566281|C11.941.375.060/C566281|C16.131.384.079/C566281|C16.320.290.078/C566281 C11.250.060|C11.270.060|C11.941.375.060|C16.131.384.079|C16.320.290.078 Congenital abnormality|Eye disease|Genetic disease (inborn) Aniridia cerebellar ataxia mental deficiency MESH:C536370 DO:DOID:0111578|OMIM:206700 MESH:D002524|MESH:D008607|MESH:D015783 C10.228.140.252.190/C536370|C10.597.350.090.500/C536370|C10.597.606.360/C536370|C11.250.060/C536370|C11.270.060/C536370|C11.941.375.060/C536370|C16.131.384.079/C536370|C16.320.290.078/C536370|C23.888.592.350.090.200/C536370|C23.888.592.604.646/C536370|F03.625.539/C536370 C10.228.140.252.190|C10.597.350.090.500|C10.597.606.360|C11.250.060|C11.270.060|C11.941.375.060|C16.131.384.079|C16.320.290.078|C23.888.592.350.090.200|C23.888.592.604.646|F03.625.539 Aniridia, Cerebellar Ataxia, And Mental Deficiency|ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION|Aniridia, partial-cerebellar ataxia-mental retardation|Aniridia, partial-cerebellar ataxia-oligophrenia|Gillespie syndrome|GLSP Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract MESH:C566280 MESH:D002386|MESH:D015783 C11.250.060/C566280|C11.270.060/C566280|C11.510.245/C566280|C11.941.375.060/C566280|C16.131.384.079/C566280|C16.320.290.078/C566280 C11.250.060|C11.270.060|C11.510.245|C11.941.375.060|C16.131.384.079|C16.320.290.078 Congenital abnormality|Eye disease|Genetic disease (inborn) Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation MESH:C000632444 MESH:D011596|MESH:D015783 C10.597.606.881/C000632444|C11.250.060/C000632444|C11.270.060/C000632444|C11.941.375.060/C000632444|C16.131.384.079/C000632444|C16.320.290.078/C000632444|C23.888.592.604.882/C000632444 C10.597.606.881|C11.250.060|C11.270.060|C11.941.375.060|C16.131.384.079|C16.320.290.078|C23.888.592.604.882 Aniridia partial with unilateral renal agenesis and psychomotor retardation|Aniridia renal agenesis psychomotor retardation Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Aniridia, type 2 MESH:C536372 MESH:D015783 C11.250.060/C536372|C11.270.060/C536372|C11.941.375.060/C536372|C16.131.384.079/C536372|C16.320.290.078/C536372 C11.250.060|C11.270.060|C11.941.375.060|C16.131.384.079|C16.320.290.078 Congenital abnormality|Eye disease|Genetic disease (inborn) Anisakiasis MESH:D017129 DO:DOID:7033 Infection with roundworms of the genus ANISAKIS. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute NAUSEA; VOMITING; or penetrate into the wall of the DIGESTIVE TRACT where they give rise to EOSINOPHILIC GRANULOMA in the STOMACH; INTESTINES; or the OMENTUM. MESH:D007411|MESH:D017191 C01.610.335.508.700.100.060|C01.610.432.060|C06.405.469.452.060 C01.610.335.508.700.100|C01.610.432|C06.405.469.452 Anisakiases|Anisakis Infection|Anisakis Infections|Infection, Anisakis|Infections, Anisakis Digestive system disease|Parasitic disease Aniseikonia MESH:D000839 DO:DOID:0050304 A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other. MESH:D012030 C11.744.116 C11.744 Eye disease Anisocoria MESH:D015875 Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (IRIS DISEASES) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease. MESH:D011681 C10.597.690.150|C11.710.090|C23.888.592.708.150 C10.597.690|C11.710|C23.888.592.708 Anisocoria, Physiologic|Inequality, Pupillary Size|Physiologic Anisocoria|Pupil Diameter Unequal|Pupillary Size Inequality Eye disease|Nervous system disease|Signs and symptoms Anisomastia MESH:C565299 OMIM:605746 MESH:D000015 C16.131.077/C565299 C16.131.077 Congenital abnormality Anisometropia MESH:D015858 DO:DOID:12273 A condition of an inequality of refractive power of the two eyes. MESH:D012030 C11.744.126 C11.744 Eye disease Ankle Fractures MESH:D064386 Fractures of any of the bones of the ANKLE. MESH:D016512|MESH:D050723 C26.404.014|C26.558.100.500 C26.404|C26.558.100 Ankle Fracture|Ankle Fracture, Bimalleolar|Ankle Fracture, Trimalleolar|Bimalleolar Ankle Fracture|Bimalleolar Ankle Fractures|Bimalleolar Equivalent Ankle Fractures|Bimalleolar Equivalent Fracture|Bimalleolar Equivalent Fractures|Bimalleolar Fracture|Bimalleolar Fractures|Equivalent Fracture, Bimalleolar|Fracture, Ankle|Fracture, Bimalleolar|Fracture, Bimalleolar Ankle|Fracture, Bimalleolar Equivalent|Fracture, Lateral Malleolus|Fracture, Medial Malleolus|Fracture, Posterior Malleolus|Fracture, Trimalleolar|Fracture, Trimalleolar Ankle|Lateral Malleolus Fracture|Lateral Malleolus Fractures|Malleolus Fracture, Lateral|Malleolus Fracture, Medial|Malleolus Fracture, Posterior|Medial Malleolus Fracture|Medial Malleolus Fractures|Posterior Malleolus Fracture|Posterior Malleolus Fractures|Trimalleolar Ankle Fracture|Trimalleolar Ankle Fractures|Trimalleolar Fracture|Trimalleolar Fractures Wounds and injuries Ankle Injuries MESH:D016512 Harm or hurt to the ankle or ankle joint usually inflicted by an external source. MESH:D007869 C26.558.100 C26.558 Ankle Injury|Ankle Sprain|Ankle Sprains|Injuries, Ankle|Injuries, Syndesmotic|Injury, Ankle|Injury, Syndesmotic|Sprain, Ankle|Sprains, Ankle|Syndesmotic Injuries|Syndesmotic Injury Wounds and injuries Ankyloblepharon filiforme adnatum MESH:C536373 OMIM:106250 MESH:D002971|MESH:D002972|MESH:D005124 C05.500.460.185/C536373|C05.660.207.540.460.185/C536373|C07.320.440.185/C536373|C07.465.409.225/C536373|C07.465.525.164/C536373|C07.465.525.185/C536373|C07.650.500.460.185/C536373|C07.650.525.164/C536373|C07.650.525.185/C536373|C11.250/C536373|C16.131.384/C536373|C16.131.621.207.540.460.185/C536373|C16.131.850.500.460.185/C536373|C16.131.850.525.164/C536373|C16.131.850.525.185/C536373 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C11.250|C16.131.384|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 AFA|Ankyloblepharon Filiforme Adnatum and Cleft Palate|Ankyloblepharon filiforme adnatum cleft palate|Ankyloblepharon filiforme congenitum|Congenital filiform fusion of the eyelids with cleft palate and-or cleft lip Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Ankyloglossia MESH:D000072676 DO:DOID:0060604|OMIM:106280 A severe congenital restriction of TONGUE movement, resulting from fusion or adherence of the tongue to the floor of the mouth. In partial ankyloglossia (tongue-tie) the LINGUAL FRENUM is abnormally short, or is attached too close to the tip of the tongue. OMIM: 106280 MESH:D009057 C07.160 C07 ANKG|ANKYLOGLOSSIA|Ankyloglossia, Partial|Ankyloglossias|Ankyloglossias, Partial|ANKYLOGLOSSIA WITH OR WITHOUT TOOTH ANOMALIES|Partial Ankyloglossia|Partial Ankyloglossias|Tongue Tie|'TONGUE-TIE'|Tongue Ties Mouth disease Ankylosis MESH:D000844 DO:DOID:227 Fixation and immobility of a joint. MESH:D007592 C05.550.069 C05.550 Ankyloses Musculoskeletal disease Annular Erythema MESH:C562461 MESH:D004890|MESH:D012873 C16.320.850/C562461|C17.800.229/C562461|C17.800.827/C562461|C23.888.885.328/C562461 C16.320.850|C17.800.229|C17.800.827|C23.888.885.328 Genetic disease (inborn)|Signs and symptoms|Skin disease Annular pancreas MESH:C536376 DO:DOID:0060850|OMIM:167750 MESH:D010182 C06.689/C536376 C06.689 Pancreas, annular Digestive system disease Anodontia MESH:D000848 DO:DOID:0050591|DO:DOID:13714|OMIM:106600 Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed) MESH:D014071 C07.650.800.100|C07.793.700.100|C16.131.850.800.100 C07.650.800|C07.793.700|C16.131.850.800 Ageneses, Familial Tooth|Agenesis, Familial Tooth|Familial Tooth Ageneses|Familial Tooth Agenesis|HYD1|Hypodontia|Hypodontia Oligodontia 1|HYPODONTIA/OLIGODONTIA 1|Hypodontia Oligodontia 1s|HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT, INCLUDED|Oligodontia 1, Hypodontia|Oligodontia 1s, Hypodontia|SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF|STHAG1|Tooth Ageneses, Familial|Tooth Agenesis, Familial|TOOTH AGENESIS, FAMILIAL TOOTH AGENESIS, SELECTIVE, WITH OROFACIAL CLEFT, INCLUDED|Tooth Agenesis, Selective, 1 Congenital abnormality|Mouth disease Anodontia of Permanent Dentition MESH:C563203 MESH:D000848 C07.650.800.100/C563203|C07.793.700.100/C563203|C16.131.850.800.100/C563203 C07.650.800.100|C07.793.700.100|C16.131.850.800.100 Teeth, Permanent, Absence of Congenital abnormality|Mouth disease Anomalous Left Coronary Artery MESH:D000080038 Malformations of left CORONARY ARTERY where it is connected to the PULMONARY ARTERY instead of the AORTA. MESH:D003330 C14.240.400.210.125|C14.280.400.210.125|C16.131.240.400.210.125 C14.240.400.210|C14.280.400.210|C16.131.240.400.210 Cardiovascular disease|Congenital abnormality Anomia MESH:D000849 DO:DOID:4541 A language dysfunction characterized by the inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. This condition is associated with lesions of the dominant hemisphere involving the language areas, in particular the TEMPORAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, p484) MESH:D007806 C10.597.606.150.500.090|C23.888.592.604.150.500.090 C10.597.606.150.500|C23.888.592.604.150.500 Amnesic Aphasia|Anomia, Color|Anomias, Color|Anomic Aphasia|Anomic Dysphasia|Anomic Dysphasias|Aphasia, Amnesic|Aphasia, Anomic|Aphasia, Nominal|Color Anomia|Color Anomias|Dysnomia|Dysnomias|Dysphasia, Anomic|Dysphasia, Nominal|Dysphasias, Anomic|Dysphasias, Nominal|Nominal Aphasia|Nominal Dysphasia|Nominal Dysphasias Nervous system disease|Signs and symptoms Anonychia congenita MESH:C536377 DO:DOID:0080082|OMIM:206800 MESH:D009264 C23.300.820/C536377 C23.300.820 Anonychia|ANONYCHIA/HYPONYCHIA CONGENITA|ANONYCHIA TOTALIS|Hyponychia congenita|NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4|NDNC4 Pathology (anatomical condition) Anonychia-Ectrodactyly MESH:C566277 MESH:D006228|MESH:D009264 C05.390.408/C566277|C05.660.585.988.425/C566277|C16.131.621.585.988.500/C566277|C23.300.820/C566277 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500|C23.300.820 Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition) Anonychia onychodystrophy MESH:C536378 MESH:D009264 C23.300.820/C536378 C23.300.820 Absent nails and dystrophic nails|Anonychia-Onychodystrophy Pathology (anatomical condition) Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly MESH:C536379 MESH:D009264|MESH:D059327 C05.660.585.262/C536379|C16.131.621.585.262/C536379|C23.300.820/C536379 C05.660.585.262|C16.131.621.585.262|C23.300.820 Kumar Levick syndrome Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition) Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges MESH:C537766 MESH:D005532|MESH:D006228|MESH:D019066 C05.330.495/C537766|C05.390.408/C537766|C05.660.585.512.380/C537766|C05.660.585.988.425/C537766|C16.131.621.585.512.500/C537766|C16.131.621.585.988.500/C537766|C23.550.291.812/C537766 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500|C23.550.291.812 Anonychia and absence-hypoplasia of distal phalanges|Cooks syndrome Congenital abnormality|Musculoskeletal disease|Pathology (process) Anonychia, Total, with Microcephaly MESH:C564606 MESH:D008831|MESH:D009264 C05.660.207.620/C564606|C10.500.507.400.500/C564606|C16.131.621.207.620/C564606|C16.131.666.507.400.500/C564606|C23.300.820/C564606 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C23.300.820 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Anonychia with Flexural Pigmentation MESH:C566278 MESH:D009264|MESH:D010859 C17.800.621/C566278|C23.300.820/C566278|C23.550.755/C566278 C17.800.621|C23.300.820|C23.550.755 Pathology (anatomical condition)|Pathology (process)|Skin disease Anophthalmia plus syndrome MESH:C537767 MESH:D000853 C11.250.080/C537767|C16.131.384.159/C537767 C11.250.080|C16.131.384.159 Anophthalmia-Plus Syndrome|Fryns anophthalmia syndrome|Fryns Microphthalmia Syndrome|Microphthalmia with Facial Clefting Congenital abnormality|Eye disease Anophthalmia with pulmonary hypoplasia MESH:C537768 DO:DOID:0111807|OMIM:601186 MESH:D000853|MESH:D008171|MESH:D008850 C08.381/C537768|C11.250.080/C537768|C11.250.566/C537768|C16.131.384.159/C537768|C16.131.384.666/C537768 C08.381|C11.250.080|C11.250.566|C16.131.384.159|C16.131.384.666 Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm|Anophthalmia-Microphthalmia And Pulmonary Hypoplasia|ANOPHTHALMIA/MICROPHTHALMIA AND PULMONARY HYPOPLASIA|Matthew Wood syndrome|Matthew-Wood syndrome|MCOPCB8, INCLUDED|MCOPS9|Microphthalmia, Syndromic 9|PDAC|Pulmonary agenesis, Microphthalmia, and Diaphragmatic defect|PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT;PMD MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, INCLUDED|PULMONARY HYPOPLASIA-DIAPHRAGMATIC HERNIA-ANOPHTHALMIA-CARDIAC DEFECT|Spear Syndrome Congenital abnormality|Eye disease|Respiratory tract disease Anophthalmos MESH:D000853 Congenital absence of the eye or eyes. MESH:D005124 C11.250.080|C16.131.384.159 C11.250|C16.131.384 Anophthalmia|Anophthalmias Congenital abnormality|Eye disease Anophthalmos with limb anomalies MESH:C537769 OMIM:206920 MESH:D014849 C16.131.077.938/C537769 C16.131.077.938 Anophthalmia-Syndactyly|Anophthalmia Waardenburg syndrome|Anophthalmos-syndactyly|Microphthalmia With Limb Anomalies|MLA|OAS|Ophthalmoacromelic syndrome|Waardenburg anophthalmia syndrome Congenital abnormality Anorchia MESH:C537770 MESH:D006061 C12.050.351.875.253.096.687/C537770|C12.050.351.875.253.309.388/C537770|C12.200.706.316.096.687/C537770|C12.200.706.316.309.388/C537770|C12.800.316.096.687/C537770|C12.800.316.309.388/C537770|C16.131.939.316.096.687/C537770|C16.131.939.316.309.388/C537770|C19.391.119.096.687/C537770|C19.391.119.309.388/C537770 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 Absence of testes|Anorchia, Familial|Congenital absence of testes|Empty scrotum|Testicular Regression, Embryonic|Testicular regression syndrome|Vanishing testes|Xy Gonadal Agenesis Syndrome|XY gonadal dysgenesis syndrome Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Anorectal Malformations MESH:D000071056 OMIM:107100 Congenital defects in the anus and the rectum often involving the urinary and genital tracts. MESH:D004065 C06.198.025|C16.131.314.047 C06.198|C16.131.314 Anomalies, Anorectal|Anomaly, Anorectal|Anorectal Anomalies|Anorectal Anomaly|Anorectal Atresia|Anorectal Atresias|Anorectal Malformation|Anorectal Stenoses|Anorectal Stenosis|Atresia, Anorectal|Atresias, Anorectal|Malformation, Anorectal|Malformations, Anorectal|Stenoses, Anorectal|Stenosis, Anorectal Congenital abnormality|Digestive system disease Anorexia MESH:D000855 The lack or loss of APPETITE accompanied by an aversion to food and the inability to eat. It is the defining characteristic of the disorder ANOREXIA NERVOSA. MESH:D012817 C23.888.821.108 C23.888.821 Anorexias Signs and symptoms Anorexia Nervosa MESH:D000856 DO:DOID:8689|OMIM:606788 An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994) MESH:D001068 F03.400.125 F03.400 AN ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1, INCLUDED|ANON|ANON1, INCLUDED|Anorexia Nervosas|ANOREXIA NERVOSA, SUSCEPTIBILITY TO|Nervosa, Anorexia|Nervosas, Anorexia Mental disorder Anosmia MESH:D000086582 Complete or severe loss of the subjective sense of smell. Loss of smell may be caused by many factors such as a cold, allergy, OLFACTORY NERVE DISEASES, viral RESPIRATORY TRACT INFECTIONS (e.g., COVID-19), aging and various neurological disorders (e.g., ALZHEIMER DISEASE). MESH:D000857 C10.597.751.600.500|C23.888.592.763.550.500 C10.597.751.600|C23.888.592.763.550 Hyposmia|Loss of Smell|Smell Loss Nervous system disease|Signs and symptoms Anovulation MESH:D000858 DO:DOID:3781 Suspension or cessation of OVULATION in animals or humans with follicle-containing ovaries (OVARIAN FOLLICLE). Depending on the etiology, OVULATION may be induced with appropriate therapy. MESH:D010049 C12.050.351.500.056.630.050|C12.100.250.056.630.050|C19.391.630.050 C12.050.351.500.056.630|C12.100.250.056.630|C19.391.630 Anovulations Endocrine system disease|Urogenital disease (female) Ansa pancreatica MESH:C000718907 MESH:D004065 C06.198/C000718907|C16.131.314/C000718907 C06.198|C16.131.314 Congenital abnormality|Digestive system disease Ansell Bywaters Elderking syndrome MESH:C537773 MESH:D001177|MESH:D008607|MESH:D014605 C05.550.186/C537773|C10.597.606.360/C537773|C11.941.879/C537773|C23.888.592.604.646/C537773|F03.625.539/C537773 C05.550.186|C10.597.606.360|C11.941.879|C23.888.592.604.646|F03.625.539 Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Anterior Capsular Rupture, Ocular MESH:D057971 A breach in the continuity of the ANTERIOR CHAMBER of the eyeball. MESH:D005131 C11.297.249 C11.297 Eye disease Anterior Compartment Syndrome MESH:D000868 DO:DOID:3933 Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION. MESH:D003161 C05.651.180.063|C14.907.303.063 C05.651.180|C14.907.303 Anterior Compartment Syndromes|Anterior Tibial Syndrome|Anterior Tibial Syndromes|Compartment Syndrome, Anterior|Compartment Syndromes, Anterior|Syndrome, Anterior Compartment|Syndrome, Anterior Tibial|Syndromes, Anterior Compartment|Syndromes, Anterior Tibial|Tibial Syndrome, Anterior|Tibial Syndromes, Anterior Cardiovascular disease|Musculoskeletal disease Anterior Cruciate Ligament Injuries MESH:D000070598 Sprain or tear injuries to the ANTERIOR CRUCIATE LIGAMENT of the knee. MESH:D007718 C26.558.554.213 C26.558.554 ACL Injuries|ACL Injury|ACL Tear|ACL Tears|Anterior Cruciate Ligament Injury|Anterior Cruciate Ligament Tear|Anterior Cruciate Ligament Tears|Injuries, ACL|Injury, ACL|Tear, ACL|Tears, ACL Wounds and injuries Anterior polar cataract 2 MESH:C537774 OMIM:601202 MESH:D002386 C11.510.245/C537774 C11.510.245 CATARACT 24|CATARACT 24, ANTERIOR POLAR|Cataract, anterior polar 2|Cataract, Anterior Polar, 2|CTAA2|CTRCT24 Eye disease Anterior segment mesenchymal dysgenesis MESH:C537775 OMIM:107250|OMIM:269400|OMIM:617315|OMIM:617319 MESH:D005124 C11.250/C537775|C16.131.384/C537775 C11.250|C16.131.384 ANTERIOR SEGMENT DYSGENESIS 1|ANTERIOR SEGMENT DYSGENESIS 6|ANTERIOR SEGMENT DYSGENESIS 7|ANTERIOR SEGMENT DYSGENESIS 8|ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS|Anterior segment ocular dysgenesis|ASGD1|ASGD6|ASGD7|ASGD8|ASMD|ASOD|COPOA|CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES|SCLEROCORNEA WITH OTHER OCULAR ANOMALIES Congenital abnormality|Eye disease Anterior spinal artery stroke MESH:C537776 MESH:D020760 C10.228.854.785.650/C537776|C14.907.790.550/C537776 C10.228.854.785.650|C14.907.790.550 Cardiovascular disease|Nervous system disease Anterior Spinal Artery Syndrome MESH:D020759 DO:DOID:6712 Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50) MESH:D020760 C10.228.854.785.650.100|C14.907.790.550.100 C10.228.854.785.650|C14.907.790.550 Anterior Spinal Artery Dissection|Dissection, Anterior Spinal Artery|Syndrome, Anterior Spinal Artery Cardiovascular disease|Nervous system disease Anterior Wall Myocardial Infarction MESH:D056988 DO:DOID:5845|DO:DOID:5855 MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction. MESH:D009203 C14.280.647.500.093|C14.907.585.500.093|C23.550.513.355.750.093|C23.550.717.489.750.093 C14.280.647.500|C14.907.585.500|C23.550.513.355.750|C23.550.717.489.750 Acute Anterior Wall Myocardial Infarction|Anterolateral Myocardial Infarction|Anterolateral Myocardial Infarctions|Anteroseptal Myocardial Infarction|Anteroseptal Myocardial Infarctions|Infarction, Anterolateral Myocardial|Infarction, Anteroseptal Myocardial|Infarctions, Anterolateral Myocardial|Infarctions, Anteroseptal Myocardial|Myocardial Infarction, Anterior Wall|Myocardial Infarction, Anterolateral|Myocardial Infarction, Anteroseptal|Myocardial Infarctions, Anterolateral|Myocardial Infarctions, Anteroseptal Cardiovascular disease|Pathology (process) Anthophobia MESH:C000719190 MESH:D010698 F03.080.725/C000719190 F03.080.725 Botanophobia|Fear of flowers|Fear of plants|Phobia, flowers|Phobia, plants Mental disorder Anthracosilicosis MESH:D000874 DO:DOID:10324 A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung. MESH:D012829|MESH:D055008 C08.381.483.581.062.500|C08.381.483.581.760.125|C08.381.520.702.062.500|C08.381.520.702.760.125|C24.800.834.201 C08.381.483.581.062|C08.381.483.581.760|C08.381.520.702.062|C08.381.520.702.760|C24.800.834 Anthracosilicoses Occupational disease|Respiratory tract disease Anthracosis MESH:D055008 DO:DOID:10327 A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers. MESH:D011009 C08.381.483.581.062|C08.381.520.702.062 C08.381.483.581|C08.381.520.702 Anthracoses|Black Lung|Black Lung Disease|Black Lung Diseases|Black Lungs|Coal Miner Lung|Coal Miner's Lung|Coal Miners Lung|Coal Miner's Lungs|Coalworker Pneumoconiosis|Coal Worker Pneumoconiosis|Coalworker's Pneumoconioses|Coal Worker's Pneumoconioses|Coalworker's Pneumoconiosis|Coalworkers Pneumoconiosis|Coal Worker's Pneumoconiosis|Coal Workers Pneumoconiosis|Lung, Black|Lungs, Black|Miner's Lung, Coal|Miner's Lungs, Coal|Pneumoconioses, Coalworker's|Pneumoconioses, Coal Worker's|Pneumoconiosis, Coal Worker|Pneumoconiosis, Coalworker's|Pneumoconiosis, Coal Worker's|Pneumoconiosis, Coal Workers Respiratory tract disease Anthrax MESH:D000881 DO:DOID:7427 An acute infection caused by the spore-forming bacteria BACILLUS ANTHRACIS. It commonly affects hoofed animals such as sheep and goats. Infection in humans often involves the skin (cutaneous anthrax), the lungs (inhalation anthrax), or the gastrointestinal tract. Anthrax is not contagious and can be treated with antibiotics. MESH:D016863 C01.150.252.410.090.072 C01.150.252.410.090 Bacillus anthracis Infection|Bacillus anthracis Infections Bacterial infection or mycosis Anthropophobia MESH:C000719191 MESH:D000072861 F03.080.725.500/C000719191 F03.080.725.500 Fear of people|Fear of people or society|Fear of society|Phobia, people|Phobia, society Mental disorder Antibody Deficiency due to Defect in CD19 MESH:C566275 MESH:D000081207 C16.320.798/C566275|C20.673.795/C566275 C16.320.798|C20.673.795 Genetic disease (inborn)|Immune system disease Anticholinergic Syndrome MESH:D064807 Adverse drug effects associated with CHOLINERGIC ANTAGONISTS. Clinical features include TACHYCARDIA; HYPERTHERMIA; MYDRIASIS, dry skin and dry mucous membranes, decreased bowel sounds and urinary retention in peripheral anticholinergic syndrome; and HALLUCINATIONS; PSYCHOSES; SEIZURES; and COMA in central anticholinergic syndrome. MESH:D064420 C25.100.311 C25.100 Anticholinergic Syndrome, Central|Anticholinergic Syndrome, Peripheral|Anticholinergic Syndromes|Anticholinergic Syndromes, Central|Anticholinergic Syndromes, Peripheral|Central Anticholinergic Syndrome|Central Anticholinergic Syndromes|Peripheral Anticholinergic Syndrome|Peripheral Anticholinergic Syndromes|Syndrome, Anticholinergic|Syndrome, Central Anticholinergic|Syndrome, Peripheral Anticholinergic|Syndromes, Anticholinergic|Syndromes, Central Anticholinergic|Syndromes, Peripheral Anticholinergic Anticipation, Genetic MESH:D020132 The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) MESH:D020022 C23.550.291.687.500.500 C23.550.291.687.500 Genetic Anticipation Pathology (process) Anti-Glomerular Basement Membrane Disease MESH:D019867 DO:DOID:9808 An autoimmune disease of the KIDNEY and the LUNG. It is characterized by the presence of circulating autoantibodies targeting the epitopes in the non-collagenous domains of COLLAGEN TYPE IV in the basement membranes of kidney glomeruli (KIDNEY GLOMERULUS) and lung alveoli (PULMONARY ALVEOLI), and the subsequent destruction of these basement membranes. Clinical features include pulmonary alveolar hemorrhage and glomerulonephritis. MESH:D001327|MESH:D005921|MESH:D017563 C08.381.483.156|C12.050.351.968.419.570.363.304|C12.200.777.419.570.363.304|C12.950.419.570.363.304|C20.111.190 C08.381.483|C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363|C20.111 Anti GBM Disease|Anti-GBM Disease|Anti Glomerular Basement Membrane Disease|Goodpasture's Syndrome|Goodpastures Syndrome|Goodpasture Syndrome|Lung Purpura with Nephritis|Syndrome, Goodpasture|Syndrome, Goodpasture's Immune system disease|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis MESH:D056648 Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. MESH:D001327|MESH:D017445|MESH:D056647 C14.907.940.897.249|C17.800.862.105|C20.111.193 C14.907.940.897|C17.800.862|C20.111 ANCA-Associated Vasculitide|ANCA Associated Vasculitides|ANCA-Associated Vasculitides|ANCA Associated Vasculitis|ANCA-Associated Vasculitis|Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis|Pauci-Immune Vasculitides|Pauci Immune Vasculitis|Pauci-Immune Vasculitis|Vasculitide, ANCA-Associated|Vasculitides, ANCA-Associated|Vasculitides, Pauci-Immune|Vasculitis, ANCA-Associated|Vasculitis, Pauci-Immune Cardiovascular disease|Immune system disease|Skin disease Anti-N-Methyl-D-Aspartate Receptor Encephalitis MESH:D060426 Disorder characterized by symptoms of CATATONIA; HYPOVENTILATION; DYSKINESIAS; ENCEPHALITIS; and SEIZURES followed by a reduced CONSCIOUSNESS. It is often followed by a viral-like prodrome. Many cases are self-limiting and respond well to IMMUNOMODULATORY THERAPIES against the NMDA RECEPTORS antibodies. MESH:D004660|MESH:D020274|MESH:D020361 C04.588.614.550.112|C04.730.856.112|C10.228.140.430.124|C10.574.781.249|C10.586.250.124|C20.111.258.124 C04.588.614.550|C04.730.856|C10.228.140.430|C10.574.781|C10.586.250|C20.111.258 Anti-NMDA Receptor Encephalitides|Anti NMDA Receptor Encephalitis|Anti-NMDA Receptor Encephalitis|Anti-NMDAR Encephalitides|Anti-NMDAR Encephalitides, Non-paraneoplastic|Anti-NMDAR Encephalitides, Paraneoplastic|Anti NMDAR Encephalitis|Anti-NMDAR Encephalitis|Anti-NMDAR Encephalitis, Non-paraneoplastic|Anti-NMDAR Encephalitis, Paraneoplastic|Anti-N-Methyl-D-Aspartate Receptor Encephalitides|Anti N Methyl D Aspartate Receptor Encephalitis|Encephalitides, Anti-NMDAR|Encephalitides, Anti-NMDA Receptor|Encephalitides, Anti-N-Methyl-D-Aspartate Receptor|Encephalitides, Non-paraneoplastic Anti-NMDAR|Encephalitides, Paraneoplastic Anti-NMDAR|Encephalitis, Anti-NMDAR|Encephalitis, Anti-NMDA Receptor|Encephalitis, Anti-N-Methyl-D-Aspartate Receptor|Encephalitis, Non-paraneoplastic Anti-NMDAR|Encephalitis, Paraneoplastic Anti-NMDAR|Non paraneoplastic Anti NMDA Receptor Encephalitis|Non-paraneoplastic Anti-NMDA Receptor Encephalitis|Non-paraneoplastic Anti-NMDAR Encephalitides|Non paraneoplastic Anti NMDAR Encephalitis|Non-paraneoplastic Anti-NMDAR Encephalitis|Non paraneoplastic Anti N Methyl D Aspartate Receptor Encephalitis|Non-paraneoplastic Anti-N-Methyl-D-Aspartate Receptor Encephalitis|Paraneoplastic Anti NMDA Receptor Encephalitis|Paraneoplastic Anti-NMDA Receptor Encephalitis|Paraneoplastic Anti-NMDAR Encephalitides|Paraneoplastic Anti NMDAR Encephalitis|Paraneoplastic Anti-NMDAR Encephalitis|Paraneoplastic Anti N Methyl D Aspartate Receptor Encephalitis|Paraneoplastic Anti-N-Methyl-D-Aspartate Receptor Encephalitis|Receptor Encephalitides, Anti-NMDA|Receptor Encephalitis, Anti-NMDA Cancer|Immune system disease|Nervous system disease Antiphospholipid Syndrome MESH:D016736 DO:DOID:2988 The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR). MESH:D001327 C20.111.197 C20.111 Antibody Syndrome, Antiphospholipid|Antibody Syndrome, Anti-Phospholipid|Antiphospholipid Antibody Syndrome|Anti Phospholipid Antibody Syndrome|Anti-Phospholipid Antibody Syndrome|Antiphospholipid Antibody Syndromes|Anti Phospholipid Syndrome|Anti-Phospholipid Syndrome|Hughes Syndrome|Syndrome, Antiphospholipid|Syndrome, Anti-Phospholipid|Syndrome, Antiphospholipid Antibody|Syndrome, Anti-Phospholipid Antibody|Syndrome, Hughes Immune system disease Anti-plasmin deficiency, congenital MESH:C537777 OMIM:262850 MESH:D006474 C15.378.463/C537777 C15.378.463 Alpha-2-plasmin inhibitor deficiency|Antiplasmin Deficiency|Antiplasmin deficiency, congenital|Plasmin Inhibitor Deficiency Blood disease Antisocial Personality Disorder MESH:D000987 DO:DOID:10939 A personality disorder whose essential feature is a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. The individual must be at least age 18 and must have a history of some symptoms of CONDUCT DISORDER before age 15. (From DSM-IV, 1994). MESH:D010554 F03.675.050 F03.675 Antisocial Behavior|Antisocial Behaviors|Antisocial Personalities|Antisocial Personality|Antisocial Personality Disorders|Behavior, Antisocial|Behavior, Dyssocial|Behaviors, Antisocial|Behaviors, Dyssocial|Disorder, Antisocial Personality|Disorders, Antisocial Personality|Dyssocial Behavior|Dyssocial Behaviors|Personalities, Antisocial|Personalities, Psychopathic|Personalities, Sociopathic|Personality, Antisocial|Personality Disorder, Antisocial|Personality Disorders, Antisocial|Personality, Psychopathic|Personality, Sociopathic|Psychopathic Personalities|Psychopathic Personality|Sociopathic Personalities|Sociopathic Personality Mental disorder Antisynthetase syndrome MESH:C537778 DO:DOID:0080744 MESH:D009220 C05.651.594/C537778|C10.668.491.562/C537778 C05.651.594|C10.668.491.562 Musculoskeletal disease|Nervous system disease Antithrombin deficiency type 2 MESH:C537779 MESH:D019851 C15.378.925/C537779 C15.378.925 Blood disease Antithrombin, Familial Hemorrhagic Diathesis due to MESH:C565947 MESH:D006474 C15.378.463/C565947 C15.378.463 Blood disease Antithrombin III Deficiency MESH:D020152 DO:DOID:3755|OMIM:613118 An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis. MESH:D001796|MESH:D019851|MESH:D025861 C15.378.100.100.075|C15.378.147.150|C15.378.925.075|C16.320.099.075 C15.378.100.100|C15.378.147|C15.378.925|C16.320.099 Antithrombin 3 Deficiencies|Antithrombin 3 Deficiency|Antithrombin III Deficiencies|AT3D|Congenital Antithrombin III Deficiency|Deficiencies, Antithrombin 3|Deficiencies, Antithrombin III|Deficiency, Antithrombin 3|Deficiency, Antithrombin III|Hereditary Antithrombin Deficiency|THPH7|THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY Blood disease|Genetic disease (inborn) Antley-Bixler Syndrome Phenotype MESH:D054882 OMIM:613571 An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2). MESH:D013580|MESH:D043202 C05.116.099.370.894.115|C05.660.906.181|C16.131.621.906.181|C16.320.565.925.324|C18.452.648.925.324 C05.116.099.370.894|C05.660.906|C16.131.621.906|C16.320.565.925|C18.452.648.925 Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency|Antley Bixler Syndrome|Antley-Bixler Syndrome|Antley Bixler Syndrome, Autosomal Dominant|Antley-Bixler Syndrome, Autosomal Dominant|Antley Bixler Syndrome, Autosomal Recessive|Antley-Bixler Syndrome, Autosomal Recessive|Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis|Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis|Antley Bixler Syndrome Phenotype|Antley Bixler Syndrome Type 1|Antley-Bixler Syndrome Type 1|Antley Bixler Syndrome Type 2|Antley-Bixler Syndrome Type 2|Antley Bixler Syndrome with Disordered Steroidogenesis|Antley-Bixler Syndrome with Disordered Steroidogenesis|Combined Partial Deficiency of 17 Hydroxylase and 21 Hydroxylase|Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase|Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency|Cytochrome P450 Oxidoreductase Deficiency|Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency|DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY|Multisynostotic Osteodysgenesis|Multisynostotic Osteodysgenesis With Long Bone Fractures|Osteodysgenesis, Multisynostotic|Osteodysgenesis, Multisynostotic, With Fractures|Phenotype, Antley-Bixler Syndrome|POR Deficiency|Syndrome, Antley-Bixler|Syndrome, Trapezoidocephaly-Synostosis|Trapezoidocephaly Synostosis Syndrome|Trapezoidocephaly-Synostosis Syndrome|Trapezoidocephaly-Synostosis Syndromes Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS OMIM:201750 DO:DOID:0050462 MESH:D014564|MESH:D054882 C05.116.099.370.894.115/201750|C05.660.906.181/201750|C12.050.351.875/201750|C12.200.706/201750|C12.800/201750|C16.131.621.906.181/201750|C16.131.939/201750|C16.320.565.925.324/201750|C18.452.648.925.324/201750 C05.116.099.370.894.115|C05.660.906.181|C12.050.351.875|C12.200.706|C12.800|C16.131.621.906.181|C16.131.939|C16.320.565.925.324|C18.452.648.925.324 ABS1 Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS OMIM:207410 DO:DOID:0081290 MESH:D054882 C05.116.099.370.894.115/207410|C05.660.906.181/207410|C16.131.621.906.181/207410|C16.320.565.925.324/207410|C18.452.648.925.324/207410 C05.116.099.370.894.115|C05.660.906.181|C16.131.621.906.181|C16.320.565.925.324|C18.452.648.925.324 ABS2|MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES|OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES|TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Anuria MESH:D001002 DO:DOID:2983 Absence of urine formation. It is usually associated with complete bilateral ureteral (URETER) obstruction, complete lower urinary tract obstruction, or unilateral ureteral obstruction when a solitary kidney is present. MESH:D007674|MESH:D014555 C12.050.351.968.419.078|C12.050.351.968.934.070|C12.200.777.419.078|C12.200.777.934.141|C12.950.419.078|C12.950.934.070 C12.050.351.968.419|C12.050.351.968.934|C12.200.777.419|C12.200.777.934|C12.950.419|C12.950.934 Anurias Urogenital disease (female)|Urogenital disease (male) Anus Diseases MESH:D001004 DO:DOID:3128 Diseases involving the ANUS. MESH:D012002 C06.405.469.860.101 C06.405.469.860 Anus Disease|Disease, Anus|Diseases, Anus Digestive system disease Anus, Imperforate MESH:D001006 DO:DOID:10488 A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME. MESH:D004065 C06.198.050|C16.131.314.094 C06.198|C16.131.314 Anal Atresia|Anal Atresias|Atresia, Anal|Atresias, Anal|Imperforate Anus Congenital abnormality|Digestive system disease Anus Neoplasms MESH:D001005 DO:DOID:4551|DO:DOID:4908 Tumors or cancer of the ANAL CANAL. MESH:D001004|MESH:D012004 C04.588.274.476.411.307.790.040|C06.301.371.411.307.790.040|C06.405.249.411.307.790.040|C06.405.469.491.307.790.040|C06.405.469.860.101.163|C06.405.469.860.180.500.040 C04.588.274.476.411.307.790|C06.301.371.411.307.790|C06.405.249.411.307.790|C06.405.469.491.307.790|C06.405.469.860.101|C06.405.469.860.180.500 Anal Cancer|Anal Cancers|Anal Neoplasm|Anal Neoplasms|Anus Cancer|Anus Cancers|Anus Neoplasm|Cancer, Anal|Cancer of Anus|Cancer of the Anus|Cancers, Anal|Neoplasm, Anal|Neoplasm, Anus|Neoplasms, Anal|Neoplasms, Anus Cancer|Digestive system disease Anxiety Disorders MESH:D001008 DO:DOID:2030|OMIM:607834 Persistent and disabling ANXIETY. MESH:D001523 F03.080 F03 ANXIETY|Anxiety Disorder|Anxiety Neuroses|Anxiety State, Neurotic|Anxiety States, Neurotic|Disorder, Anxiety|Disorders, Anxiety|HARM AVOIDANCE, INCLUDED|Neuroses, Anxiety|Neurotic Anxiety State|Neurotic Anxiety States|State, Neurotic Anxiety|States, Neurotic Anxiety Mental disorder Anxiety, Separation MESH:D001010 Anxiety experienced by an individual upon separation from a person or object of particular significance to the individual. MESH:D001008|MESH:D065886 F03.080.300|F03.625.047 F03.080|F03.625 Anxiety Disorder, Separation|Separation Anxiety|Separation Anxiety Disorder Mental disorder Aorta-pulmonary artery fistula MESH:C537782 MESH:D001159 C14.240.850.984.500/C537782|C14.907.933.110/C537782|C16.131.240.850.500/C537782|C23.300.575.950.150/C537782 C14.240.850.984.500|C14.907.933.110|C16.131.240.850.500|C23.300.575.950.150 Aorto-pulmonary artery fistula|Aortopulmonary fistula Cardiovascular disease|Congenital abnormality|Pathology (anatomical condition) Aortic Aneurysm MESH:D001014 DO:DOID:3627 An abnormal balloon- or sac-like dilatation in the wall of AORTA. MESH:D000783|MESH:D001018 C14.907.055.239|C14.907.109.139 C14.907.055|C14.907.109 Aneurysm, Aortic|Aneurysms, Aortic|Aortic Aneurysms Cardiovascular disease Aortic Aneurysm, Abdominal MESH:D017544 DO:DOID:7693 An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm. MESH:D001014 C14.907.055.239.075|C14.907.109.139.075 C14.907.055.239|C14.907.109.139 Abdominal Aorta Aneurysm|Abdominal Aorta Aneurysms|Abdominal Aortic Aneurysm|Abdominal Aortic Aneurysms|Aneurysm, Abdominal Aorta|Aneurysm, Abdominal Aortic|Aorta Aneurysm, Abdominal Cardiovascular disease Aortic Aneurysm, Familial Abdominal 1 MESH:C565230 OMIM:100070 MESH:D017544 C14.907.055.239.075/C565230|C14.907.109.139.075/C565230 C14.907.055.239.075|C14.907.109.139.075 AAA|AAA1|ABDOMINAL AORTIC ANEURYSM|ANEURYSM, ABDOMINAL AORTIC|AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1 Cardiovascular disease Aortic Aneurysm, Familial Abdominal 2 MESH:C565229 OMIM:609782 MESH:D017544 C14.907.055.239.075/C565229|C14.907.109.139.075/C565229 C14.907.055.239.075|C14.907.109.139.075 AAA2|AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 2 Cardiovascular disease Aortic Aneurysm, Familial Abdominal 3 MESH:C567501 OMIM:611891 MESH:D017544 C14.907.055.239.075/C567501|C14.907.109.139.075/C567501 C14.907.055.239.075|C14.907.109.139.075 Aaa3|AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 3 Cardiovascular disease Aortic Aneurysm, Familial Thoracic 1 MESH:C562834 OMIM:607086 MESH:D017545 C14.907.055.239.125/C562834|C14.907.109.139.125/C562834 C14.907.055.239.125|C14.907.109.139.125 AAT1|ANEURYSM, THORACIC AORTIC ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA, INCLUDED|Annuloaortic Ectasia|Aortic Aneurysm, Familial Thoracic|Aortic Dissection, Familial|FAA1|Familial Aortic Aneurysm|Familial Aortic Dissection|Familial Taad|Familial Thoracic Aortic Aneurysm|Familial Thoracic Aortic Aneurysm and Dissection Cardiovascular disease AORTIC ANEURYSM, FAMILIAL THORACIC 10 OMIM:617168 MESH:D017545 C14.907.055.239.125/617168|C14.907.109.139.125/617168 C14.907.055.239.125|C14.907.109.139.125 AAT10|AORTIC ANEURYSM, THORACIC, WITH OR WITHOUT AORTIC DISSECTION Cardiovascular disease AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO OMIM:617349 MESH:D017545 C14.907.055.239.125/617349|C14.907.109.139.125/617349 C14.907.055.239.125|C14.907.109.139.125 AAT11 Cardiovascular disease Aortic Aneurysm, Familial Thoracic 2 MESH:C564627 OMIM:607087 MESH:D017545 C14.907.055.239.125/C564627|C14.907.109.139.125/C564627 C14.907.055.239.125|C14.907.109.139.125 AAT2|FAA2 Cardiovascular disease Aortic aneurysm, familial thoracic 3 MESH:C537783 MESH:D017545|MESH:D055947 C05.660.207.532/C537783|C14.907.055.239.125/C537783|C14.907.055.239.587/C537783|C14.907.109.139.125/C537783|C14.907.109.139.587/C537783|C16.131.077.537/C537783|C16.320.510/C537783 C05.660.207.532|C14.907.055.239.125|C14.907.055.239.587|C14.907.109.139.125|C14.907.109.139.587|C16.131.077.537|C16.320.510 Loeys-Dietz Syndrome, Type 2b Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Aortic aneurysm, familial thoracic 4 MESH:C537784 OMIM:132900 MESH:D004374|MESH:D017545 C14.240.400.340/C537784|C14.280.400.340/C537784|C14.907.055.239.125/C537784|C14.907.109.139.125/C537784|C16.131.240.400.340/C537784 C14.240.400.340|C14.280.400.340|C14.907.055.239.125|C14.907.109.139.125|C16.131.240.400.340 AAT4|Aortic aneurysm-aortic dissection and patent ductus arteriosus|AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS|FAA4 Cardiovascular disease|Congenital abnormality Aortic Aneurysm, Familial Thoracic 6 MESH:C567085 OMIM:611788 MESH:D017545|MESH:D054068 C14.907.055.239.125/C567085|C14.907.109.139.125/C567085|C14.907.355.830.573.500/C567085|C14.907.617.625/C567085|C17.800.862.406.500/C567085|C23.888.885.437/C567085 C14.907.055.239.125|C14.907.109.139.125|C14.907.355.830.573.500|C14.907.617.625|C17.800.862.406.500|C23.888.885.437 Aat6|Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi Cardiovascular disease|Signs and symptoms|Skin disease AORTIC ANEURYSM, FAMILIAL THORACIC 7 OMIM:613780 DO:DOID:14004 MESH:D017545 C14.907.055.239.125/613780|C14.907.109.139.125/613780 C14.907.055.239.125|C14.907.109.139.125 AAT7|AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM Cardiovascular disease AORTIC ANEURYSM, FAMILIAL THORACIC 8 OMIM:615436 DO:DOID:14004 MESH:D017545 C14.907.055.239.125/615436|C14.907.109.139.125/615436 C14.907.055.239.125|C14.907.109.139.125 AAT8 Cardiovascular disease AORTIC ANEURYSM, FAMILIAL THORACIC 9 OMIM:616166 MESH:D017545 C14.907.055.239.125/616166|C14.907.109.139.125/616166 C14.907.055.239.125|C14.907.109.139.125 AAT9|AORTIC ANEURYSM, THORACIC, WITH OR WITHOUT AORTIC DISSECTION Cardiovascular disease Aortic Aneurysm, Giant Congenital MESH:C565758 MESH:D001014 C14.907.055.239/C565758|C14.907.109.139/C565758 C14.907.055.239|C14.907.109.139 Cardiovascular disease Aortic Aneurysm, Thoracic MESH:D017545 DO:DOID:14004 An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm. MESH:D001014 C14.907.055.239.125|C14.907.109.139.125 C14.907.055.239|C14.907.109.139 Aneurysm, Thoracic Aorta|Aneurysm, Thoracic Aortic|Aorta Aneurysm, Thoracic|Thoracic Aorta Aneurysm|Thoracic Aorta Aneurysms|Thoracic Aortic Aneurysm|Thoracic Aortic Aneurysms Cardiovascular disease Aortic Aneurysm, Thoracoabdominal MESH:D000094624 An abnormal balloon- or sac-like dilatation in the wall of ABDOMINAL AORTA at the aortic hiatus. MESH:D017544 C14.907.055.239.075.500|C14.907.109.139.075.500 C14.907.055.239.075|C14.907.109.139.075 Aneurysm, Thoracoabdominal Aortic|TAA Thoracoabdominal Aortic Aneurysm|Thoracoabdominal Aortic Aneurysm|Thoracoabdominal Aortic Aneurysms Cardiovascular disease Aortic arch anomaly with peculiar facies and mental retardation MESH:C537785 MESH:D008607|MESH:D019066 C10.597.606.360/C537785|C23.550.291.812/C537785|C23.888.592.604.646/C537785|F03.625.539/C537785 C10.597.606.360|C23.550.291.812|C23.888.592.604.646|F03.625.539 Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma MESH:C566271 MESH:D003103|MESH:D005158 C07.465.327/C566271|C10.597.622.214/C566271|C11.250.110/C566271|C11.270.147/C566271|C16.131.384.282/C566271|C23.888.592.636.214/C566271 C07.465.327|C10.597.622.214|C11.250.110|C11.270.147|C16.131.384.282|C23.888.592.636.214 Congenital abnormality|Eye disease|Mouth disease|Nervous system disease|Signs and symptoms Aortic Arch Syndromes MESH:D001015 DO:DOID:2508 Conditions resulting from abnormalities in the arteries branching from the ASCENDING AORTA, the curved portion of the aorta. These syndromes are results of occlusion or abnormal blood flow to the head-neck or arm region leading to neurological defects and weakness in an arm. These syndromes are associated with vascular malformations; ATHEROSCLEROSIS; TRAUMA; and blood clots. MESH:D001018 C14.907.109.239 C14.907.109 Aortic Arch Syndrome|Syndrome, Aortic Arch|Syndromes, Aortic Arch Cardiovascular disease Aortic Coarctation MESH:D001017 A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion. MESH:D006330 C14.240.400.090|C14.280.400.090|C16.131.240.400.090 C14.240.400|C14.280.400|C16.131.240.400 Aorta Coarctation|Aorta Coarctations|Aorta Dominant Coarctation|Aorta Dominant Coarctations|Aortic Coarctations|Coarctation, Aortic|Coarctation of Aorta|Coarctation of Aorta Dominant|Coarctation of the Aorta|Coarctations, Aortic Cardiovascular disease|Congenital abnormality Aortic Diseases MESH:D001018 DO:DOID:520 Pathological processes involving any part of the AORTA. MESH:D014652 C14.907.109 C14.907 Aortic Disease|Disease, Aortic|Diseases, Aortic Cardiovascular disease Aortic Dissection MESH:D000784 A tear in the inner layer of the AORTA leading to interstitial HEMORRHAGE, and splitting (dissecting) of the aortic TUNICA MEDIA layer. It typically begins with a tear in the TUNICA INTIMA layer. MESH:D000094665|MESH:D000094683 C14.907.055.448.250|C14.907.109.070.500 C14.907.055.448|C14.907.109.070 Aneurysm Aorta, Dissecting|Aneurysm, Aortic Dissecting|Aneurysm, Dissecting|Aorta, Dissecting Aneurysm|Aortic Dissecting Aneurysm|Aortic Dissecting Aneurysms|Aortic Dissections|Dissecting Aneurysm|Dissecting Aneurysm Aorta|Dissecting Aneurysm Aortas|Dissecting Aneurysm, Aortic|Dissecting Aneurysms|Dissection, Aortic Cardiovascular disease Aortic Intramural Hematoma MESH:D000094666 An atypical form of AORTIC DISSECTION in which subintimal dissection of the aortic TUNICA MEDIA without initial laceration of the aortic TUNICA INTIMA. It may begin from a rupture of the VASA VASORUM feeding aortic media. MESH:D000094683|MESH:D006406 C14.907.109.070.625|C23.550.414.838.175 C14.907.109.070|C23.550.414.838 Aortic Intramural Hematomas|Hematoma, Aortic Intramural|Intramural Hematoma Aorta|Intramural Hematoma Aortas|Intramural Hematoma, Aortic Cardiovascular disease|Pathology (process) Aortico-Ventricular Tunnel MESH:D000082903 Congenital anomaly characterized by an extra-cardiac channel connecting the AORTA either to the right or left HEART VENTRICLE. MESH:D006330 C14.240.400.118|C14.280.400.118|C16.131.240.400.118 C14.240.400|C14.280.400|C16.131.240.400 Aortic Left Ventricular Tunnel|Aortic-Left Ventricular Tunnel|Aortic-Left Ventricular Tunnels|Aortico Left Ventricular Tunnel|Aortico-Left Ventricular Tunnel|Aortico-Left Ventricular Tunnels|Aortico Right Ventricular Tunnel|Aortico-Right Ventricular Tunnel|Aortico-Right Ventricular Tunnels|Aorticoventricular Tunnel|Aortico Ventricular Tunnel|Aorticoventricular Tunnels|Aortico-Ventricular Tunnels|Aortic Right Ventricular Tunnel|Aortic-Right Ventricular Tunnel|Aortic-Right Ventricular Tunnels|Aortic Ventricular Tunnel|Aortic-Ventricular Tunnel|Aortic-Ventricular Tunnels|Aorto Left Ventricular Tunnel|Aorto-Left Ventricular Tunnel|Aorto-Left Ventricular Tunnels|Aorto Right Ventricular Tunnel|Aorto-Right Ventricular Tunnel|Aorto-Right Ventricular Tunnels|Aortoventricular Tunnel|Aorto Ventricular Tunnel|Aorto-Ventricular Tunnel|Aortoventricular Tunnels|Aorto-Ventricular Tunnels|Tunnel, Aorticoventricular|Ventricular Tunnel, Aortic-Left|Ventricular Tunnel, Aortic-Right|Ventricular Tunnels, Aortic-Left|Ventricular Tunnels, Aortic-Right Cardiovascular disease|Congenital abnormality Aortic Root Aneurysm MESH:D000094628 An abnormal balloon- or sac-like dilatation in the wall of the AORTIC ROOT. MESH:D017545 C14.907.055.239.125.375|C14.907.109.139.125.375 C14.907.055.239.125|C14.907.109.139.125 Aneurysm, Aortic Root|Aortic Root Aneurysms Cardiovascular disease Aortic Rupture MESH:D001019 DO:DOID:3627 The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA. MESH:D001014|MESH:D012421|MESH:D017542 C14.907.055.185.125|C14.907.055.239.175|C14.907.109.139.175|C26.761.125 C14.907.055.185|C14.907.055.239|C14.907.109.139|C26.761 Aneurysm, Ruptured Aortic|Aneurysms, Ruptured Aortic|Aortic Aneurysm, Ruptured|Aortic Aneurysms, Ruptured|Aortic Ruptures|Rupture, Aortic|Ruptured Aortic Aneurysm|Ruptured Aortic Aneurysms|Ruptures, Aortic Cardiovascular disease|Wounds and injuries Aortic Stenosis, Subvalvular MESH:D001020 DO:DOID:5805 A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. MESH:D001024 C14.280.484.048.750.070|C14.280.955.249.070 C14.280.484.048.750|C14.280.955.249 Aortic Stenoses, Subvalvular|Aortic Subvalvular Stenoses|Aortic Subvalvular Stenosis|Stenoses, Aortic Subvalvular|Stenoses, Subvalvular Aortic|Stenosis, Aortic Subvalvular|Stenosis, Subvalvular Aortic|Subvalvular Aortic Stenoses|Subvalvular Aortic Stenosis|Subvalvular Stenoses, Aortic|Subvalvular Stenosis, Aortic Cardiovascular disease Aortic Stenosis, Supravalvular MESH:D021921 DO:DOID:1929|OMIM:185500 A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. MESH:D001024 C14.280.484.048.750.535|C14.280.955.249.535 C14.280.484.048.750|C14.280.955.249 Aortic Supravalvular Stenoses|Aortic Supravalvular Stenosis|Stenoses, Aortic Supravalvular|Stenosis, Aortic Supravalvular|Stenosis, Supravalvular Aortic|Supravalvar Aortic Stenosis|SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE|Supravalvular Aortic Stenosis|Supravalvular Stenoses, Aortic|Supravalvular Stenosis, Aortic|SVAS Cardiovascular disease Aortic Valve, Calcification of MESH:C562942 MESH:D001024|MESH:D002114 C14.280.484.048.750/C562942|C14.280.955.249/C562942|C18.452.174.130/C562942 C14.280.484.048.750|C14.280.955.249|C18.452.174.130 Aortic Stenosis, Calcific Cardiovascular disease|Metabolic disease Aortic Valve Disease MESH:D000082862 DO:DOID:62 Diseases involving the AORTIC VALVE functionality. Aortic valve disease often results in a backward and/or regurgitated blood flow into the LEFT VENTRICLE or a decreased blood flow from the heart. It includes congenital (e.g., bicuspid aortic valve), syndromic, and acquired (e.g., age-related, infection-associated) conditions. MESH:D006349 C14.280.484.048 C14.280.484 Aortic Heart Disease|Aortic Heart Diseases|Aortic Valve Diseases|Aortic Valve Disorder|Aortic Valve Disorders|Aortic Valvular Heart Disease|Aortic Valvular Heart Disorder|Heart Disease, Aortic|Valve Disease, Aortic|Valve Disorder, Aortic Cardiovascular disease AORTIC VALVE DISEASE 1 OMIM:109730 DO:DOID:0080333 MESH:C562942|MESH:D000082882 C14.240.400.186/109730|C14.280.400.186/109730|C14.280.484.048.750/C562942/109730|C14.280.484.048.875/109730|C14.280.955.249/C562942/109730|C16.131.240.400.186/109730|C18.452.174.130/C562942/109730 C14.240.400.186|C14.280.400.186|C14.280.484.048.750/C562942|C14.280.484.048.875|C14.280.955.249/C562942|C16.131.240.400.186|C18.452.174.130/C562942 AORTIC STENOSIS, CALCIFIC|AORTIC VALVE, BICUSPID|AORTIC VALVE, CALCIFICATION OF|AORTIC VALVE DISEASE|AOVD|AOVD1|BAV|BICUSPID AORTIC VALVE Cardiovascular disease|Congenital abnormality|Metabolic disease AORTIC VALVE DISEASE 2 OMIM:614823 DO:DOID:0080334 MESH:D006349 C14.280.484/614823 C14.280.484 AORTIC VALVE STENOSIS|AOVD2|BICUSPID AORTIC VALVE Cardiovascular disease Aortic Valve Insufficiency MESH:D001022 DO:DOID:57 Pathological condition characterized by the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to regurgitation. It is caused by diseases of the AORTIC VALVE or its surrounding tissue (aortic root). MESH:D000082862 C14.280.484.048.500 C14.280.484.048 Aortic Incompetence|Aortic Regurgitation|Aortic Valve Incompetence|Incompetence, Aortic|Incompetence, Aortic Valve|Insufficiency, Aortic Valve|Regurgitation, Aortic|Regurgitation, Aortic Valve Cardiovascular disease Aortic Valve Prolapse MESH:D001023 DO:DOID:5232 The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation. MESH:D000082862|MESH:D016127 C14.280.484.048.625|C14.280.484.400.100 C14.280.484.048|C14.280.484.400 Aortic Valve Prolapses|Prolapse, Aortic Valve|Prolapses, Aortic Valve|Valve Prolapse, Aortic|Valve Prolapses, Aortic Cardiovascular disease Aortic Valve Stenosis MESH:D001024 DO:DOID:1712 A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. MESH:D000082862|MESH:D014694 C14.280.484.048.750|C14.280.955.249 C14.280.484.048|C14.280.955 Aortic Stenosis|Aortic Valve Stenoses|Stenoses, Aortic|Stenoses, Aortic Valve|Stenosis, Aortic|Stenosis, Aortic Valve|Valve Stenoses, Aortic|Valve Stenosis, Aortic Cardiovascular disease Aortitis MESH:D001025 DO:DOID:519 Inflammation of the wall of the AORTA. MESH:D001018|MESH:D014657 C14.907.109.320|C14.907.940.080 C14.907.109|C14.907.940 Aortitides Cardiovascular disease aorto-atrial tunnel MESH:C000655384 MESH:D006330 C14.240.400/C000655384|C14.280.400/C000655384|C16.131.240.400/C000655384 C14.240.400|C14.280.400|C16.131.240.400 aorta-atrial tunnel|aorta-left atrial tunnel|aorta-right atrial tunnel|aorto-left atrial tunnel|aorto-right atrial tunnel Cardiovascular disease|Congenital abnormality Aortopulmonary Septal Defect MESH:D001028 A developmental abnormality in which the spiral (aortopulmonary) septum failed to completely divide the TRUNCUS ARTERIOSUS into ASCENDING AORTA and PULMONARY ARTERY. This abnormal communication between the two major vessels usually lies above their respective valves (AORTIC VALVE; PULMONARY VALVE). MESH:D006343 C14.240.400.560.098|C14.280.400.560.098|C16.131.240.400.560.098 C14.240.400.560|C14.280.400.560|C16.131.240.400.560 Aorticopulmonary Septal Defect|Aorticopulmonary Septal Defects|Aortopulmonary Septal Defects|Septal Defect, Aorticopulmonary|Septal Defect, Aortopulmonary|Septal Defects, Aorticopulmonary|Septal Defects, Aortopulmonary Cardiovascular disease|Congenital abnormality Ape Diseases MESH:D018420 Diseases of chimpanzees, gorillas, and orangutans. MESH:D018419 C22.735.050 C22.735 Ape Disease|Disease, Ape|Disease, Pongidae|Diseases, Ape|Diseases, Pongidae|Pongidae Disease|Pongidae Diseases Animal disease Aphakia MESH:D001035 Absence of crystalline lens totally or partially from field of vision, from any cause except after cataract extraction. Aphakia is mainly congenital or as result of LENS DISLOCATION AND SUBLUXATION. MESH:D007905 C11.510.103 C11.510 Aphakias|Aphakic Eye|Aphakic Eye, Post traumatic|Aphakic Eye, Post-traumatic|Aphakic Eyes|Aphakic Eyes, Post-traumatic|Aphakic Eye, Traumatic|Eye, Aphakic|Eye, Traumatic Aphakic|Post-traumatic Aphakic Eye|Post-traumatic Aphakic Eyes|Traumatic Aphakic Eye|Traumatic Aphakic Eyes Eye disease Aphakia, congenital primary MESH:C537786 OMIM:610256 MESH:D001035 C11.510.103/C537786 C11.510.103 ANTERIOR SEGMENT DYSGENESIS 2|APHAKIA, CONGENITAL PRIMARY|ASGD2|Congenital primary aphakia|CPA|CPAK Eye disease Aphakia, Postcataract MESH:D001036 Absence of the crystalline lens resulting from cataract extraction. MESH:D001035 C11.510.103.110 C11.510.103 Aphakias, Postcataract|Aphakic Eye, Postcataract|Postcataract Aphakia|Postcataract Aphakias|Postcataract Aphakic Eye|Postcataract Aphakic Eyes Eye disease Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV MESH:C563942 MESH:D005532|MESH:D006228|MESH:D008607 C05.330.495/C563942|C05.390.408/C563942|C05.660.585.512.380/C563942|C05.660.585.988.425/C563942|C10.597.606.360/C563942|C16.131.621.585.512.500/C563942|C16.131.621.585.988.500/C563942|C23.888.592.604.646/C563942|F03.625.539/C563942 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C10.597.606.360|C16.131.621.585.512.500|C16.131.621.585.988.500|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Aphalangia syndactyly microcephaly MESH:C537787 MESH:D006130|MESH:D008831|MESH:D013576 C05.116.099.370.894.819/C537787|C05.660.207.620/C537787|C05.660.585.800/C537787|C05.660.906.819/C537787|C10.500.507.400.500/C537787|C16.131.621.207.620/C537787|C16.131.621.585.800/C537787|C16.131.621.906.819/C537787|C16.131.666.507.400.500/C537787|C23.550.393/C537787 C05.116.099.370.894.819|C05.660.207.620|C05.660.585.800|C05.660.906.819|C10.500.507.400.500|C16.131.621.207.620|C16.131.621.585.800|C16.131.621.906.819|C16.131.666.507.400.500|C23.550.393 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process) Aphasia MESH:D001037 DO:DOID:0060046 A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia. MESH:D013064 C10.597.606.150.500.800.100|C23.888.592.604.150.500.800.100 C10.597.606.150.500.800|C23.888.592.604.150.500.800 Acquired Aphasia|Ageusic Aphasia|Ageusic Aphasias|Alogia|Alogias|Anepia|Anepias|Aphasia, Acquired|Aphasia, Ageusic|Aphasia, Auditory Discriminatory|Aphasia, Commisural|Aphasia, Functional|Aphasia, Global|Aphasia, Graphomotor|Aphasia, Intellectual|Aphasia, Mixed|Aphasia, Post Ictal|Aphasia, Post-Ictal|Aphasia, Post Traumatic|Aphasia, Post-Traumatic|Aphasia, Progressive|Aphasias, Commisural|Aphasia, Semantic|Aphasia, Syntactical|Auditory Discriminatory Aphasia|Auditory Discriminatory Aphasias|Commisural Aphasia|Commisural Aphasias|Deafness, Word|Dejerine Lichtheim Phenomenon|Dejerine-Lichtheim Phenomenon|Discriminatory Aphasia, Auditory|Discriminatory Aphasias, Auditory|Dysphasia|Dysphasia, Global|Functional Aphasia|Functional Aphasias|Global Aphasia|Global Aphasias|Global Dysphasia|Global Dysphasias|Graphomotor Aphasia|Graphomotor Aphasias|Intellectual Aphasia|Intellectual Aphasias|Lichtheim Sign|Lichtheim's Sign|Lichtheims Sign|Logagnosia|Logagnosias|Logamnesia|Logamnesias|Logasthenia|Logasthenias|Mixed Aphasia|Mixed Aphasias|Phenomenon, Dejerine-Lichtheim|Post-Ictal Aphasia|Post-Ictal Aphasias|Post-Traumatic Aphasia|Post-Traumatic Aphasias|Progressive Aphasia|Progressive Aphasias|Semantic Aphasia|Semantic Aphasias|Sign, Lichtheim's|Syntactical Aphasia|Syntactical Aphasias|Word Deafness Nervous system disease|Signs and symptoms Aphasia, Broca MESH:D001039 An aphasia characterized by impairment of expressive LANGUAGE (speech, writing, signs) and relative preservation of receptive language abilities (i.e., comprehension). This condition is caused by lesions of the motor association cortex in the FRONTAL LOBE (BROCA AREA and adjacent cortical and white matter regions). MESH:D001037 C10.597.606.150.500.800.100.100|C23.888.592.604.150.500.800.100.100 C10.597.606.150.500.800.100|C23.888.592.604.150.500.800.100 Agrammatic Broca Aphasia|Agrammatic Broca Aphasias|Agrammatic Broca's Aphasia|Agrammatic Brocas Aphasia|Agrammatic Broca's Aphasias|Agrammatism|Anterior Aphasia|Anterior Aphasias|Aphasia, Agrammatic Broca|Aphasia, Agrammatic Broca's|Aphasia, Anterior|Aphasia, Ataxic|Aphasia, Expressive|Aphasia, Frontocortical|Aphasia, Motor|Aphasia, Nonfluent|Aphasias, Agrammatic Broca|Aphasias, Agrammatic Broca's|Aphasias, Anterior|Aphasias, Ataxic|Aphasias, Broca|Aphasias, Frontocortical|Aphasia Syndromes, Verbal|Aphasia Syndrome, Verbal|Ataxic Aphasia|Ataxic Aphasias|Broca Aphasia|Broca Aphasia, Agrammatic|Broca Aphasias|Broca Aphasias, Agrammatic|Broca Dysphasia|Broca's Aphasia, Agrammatic|Broca's Aphasias, Agrammatic|Broca's Dysphasia|Dysphasia, Broca|Dysphasia, Broca's|Dysphasia, Brocas|Expressive Aphasia|Frontocortical Aphasia|Frontocortical Aphasias|Motor Aphasia|Nonfluent Aphasia|Syndromes, Verbal Aphasia|Syndrome, Verbal Aphasia|Verbal Aphasia Syndrome|Verbal Aphasia Syndromes Nervous system disease|Signs and symptoms Aphasia, Conduction MESH:D018886 A type of fluent aphasia characterized by an impaired ability to repeat one and two word phrases, despite retained comprehension. This condition is associated with dominant hemisphere lesions involving the arcuate fasciculus (a white matter projection between Broca's and Wernicke's areas) and adjacent structures. Like patients with Wernicke aphasia (APHASIA, WERNICKE), patients with conduction aphasia are fluent but commit paraphasic errors during attempts at written and oral forms of communication. (From Adams et al., Principles of Neurology, 6th ed, p482; Brain & Bannister, Clinical Neurology, 7th ed, p142; Kandel et al., Principles of Neural Science, 3d ed, p848) MESH:D001037 C10.597.606.150.500.800.100.111|C23.888.592.604.150.500.800.100.111 C10.597.606.150.500.800.100|C23.888.592.604.150.500.800.100 Aphasia, Associative|Aphasias, Associative|Aphasias, Conduction|Associative Aphasia|Associative Aphasias|Associative Dysphasia|Associative Dysphasias|Conduction Aphasia|Conduction Aphasias|Conduction Dysphasia|Conduction Dysphasias|Dysphasia, Associative|Dysphasia, Conduction|Dysphasias, Associative|Dysphasias, Conduction Nervous system disease|Signs and symptoms Aphasia, Primary Progressive MESH:D018888 A progressive form of dementia characterized by the global loss of language abilities and initial preservation of other cognitive functions. Fluent and nonfluent subtypes have been described. Eventually a pattern of global cognitive dysfunction, similar to ALZHEIMER DISEASE, emerges. Pathologically, there are no Alzheimer or PICK DISEASE like changes, however, spongiform changes of cortical layers II and III are present in the TEMPORAL LOBE and FRONTAL LOBE. (From Brain 1998 Jan;121(Pt 1):115-26) MESH:D001037|MESH:D003704 C10.228.140.380.132|C10.597.606.150.500.800.100.155|C23.888.592.604.150.500.800.100.155|F03.615.400.125 C10.228.140.380|C10.597.606.150.500.800.100|C23.888.592.604.150.500.800.100|F03.615.400 Aphasias, Primary Progressive|Mesulam's Syndrome|Mesulam Syndrome|Primary Progressive Aphasia|Primary Progressive Aphasias|Progressive Aphasia, Primary|Progressive Aphasias, Primary|Syndrome, Mesulam|Syndrome, Mesulam's Mental disorder|Nervous system disease|Signs and symptoms Aphasia, Wernicke MESH:D001041 Impairment in the comprehension of speech and meaning of words, both spoken and written, and of the meanings conveyed by their grammatical relationships in sentences. It is caused by lesions that primarily affect Wernicke's area, which lies in the posterior perisylvian region of the temporal lobe of the dominant hemisphere. (From Brain & Bannister, Clinical Neurology, 7th ed, p141; Kandel et al., Principles of Neural Science, 3d ed, p846) MESH:D001037 C10.597.606.150.500.800.100.166|C23.888.592.604.150.500.800.100.166 C10.597.606.150.500.800.100|C23.888.592.604.150.500.800.100 Aphasia, Fluent|Aphasia, Jargon|Aphasia, Posterior|Aphasia, Psychosensory|Aphasia, Receptive|Aphasia, Sensory|Aphasias, Jargon|Aphasias, Posterior|Aphasias, Psychosensory|Aphasias, Wernicke|Aphasia, Wernicke's Fluent|Dysphasia, Fluent|Dysphasia, Receptive|Dysphasia, Sensory|Dysphasias, Fluent|Dysphasias, Receptive|Dysphasias, Sensory|Dysphasia, Wernicke|Dysphasia, Wernicke's|Dysphasia, Wernickes|Fluent Aphasia|Fluent Aphasia, Wernicke|Fluent Aphasia, Wernicke's|Fluent Aphasia, Wernickes|Fluent Dysphasia|Fluent Dysphasias|Jargon Aphasia|Jargon Aphasias|Posterior Aphasia|Posterior Aphasias|Psychosensory Aphasia|Psychosensory Aphasias|Receptive Aphasia|Receptive Dysphasia|Receptive Dysphasias|Sensory Aphasia|Sensory Dysphasia|Sensory Dysphasias|Wernicke Aphasia|Wernicke Aphasias|Wernicke Dysphasia|Wernicke's Dysphasia|Wernicke's Fluent Aphasia Nervous system disease|Signs and symptoms Aphonia MESH:D001044 Complete loss of phonation due to organic disease of the larynx or to nonorganic (i.e., psychogenic) causes. MESH:D014832 C08.360.940.160|C09.400.940.160|C10.597.975.100|C23.888.592.979.100 C08.360.940|C09.400.940|C10.597.975|C23.888.592.979 Absence of Voice|Aphonia, Functional|Aphonia, Nonorganic|Aphonia Paralytica|Aphonias, Functional|Aphonias, Nonorganic|Aphonia, Spastic|Aphonias, Spastic|Functional Aphonia|Functional Aphonias|Nonorganic Aphonia|Nonorganic Aphonias|Paralytica, Aphonia|Spastic Aphonia|Spastic Aphonias|Voice Absence|Voice Absences Ear-nose-throat disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Apical Hypertrophic Cardiomyopathy MESH:D000092183 A hypertrophic cardiomyopathy characterized by apical hypertrophy, typically LEFT VENTRICULAR HYPERTROPHY (described as 'ace of spades' sign), and deep T-wave inversions in EKG. Clinical symptoms include minor symptoms such as CHEST PAIN; DYSPNEA; and SYNCOPE to more complex symptoms such as ATRIAL FIBRILLATION; VENTRICULAR FIBRILLATION; MYOCARDIAL INFARCTION and CONGESTIVE HEART FAILURE. A transient left ventricular apical hypertrophy is sometimes associated with TAKOTSUBO CARDIOMYOPATHY. MESH:D002312|MESH:D017379 C14.280.195.400.500|C14.280.238.100.250 C14.280.195.400|C14.280.238.100 Apical Hypertrophic Cardiomyopathies|Apical Variant HCM|Apical-Variant HCM|Apical-Variant HCMs|Cardiomyopathy, Apical Hypertrophic|HCM, Apical-Variant|Hypertrophic Cardiomyopathy, Apical|Left Ventricular Apical Hypertrophic Cardiomyopathy Cardiovascular disease Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts MESH:C566997 MESH:D003560|MESH:D004476|MESH:D006330 C04.182/C566997|C14.240.400/C566997|C14.280.400/C566997|C16.131.077.350/C566997|C16.131.240.400/C566997|C16.131.831.350/C566997|C16.320.850.250/C566997|C17.800.804.350/C566997|C17.800.827.250/C566997|C23.300.306/C566997 C04.182|C14.240.400|C14.280.400|C16.131.077.350|C16.131.240.400|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.300.306 Cancer|Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction MESH:C563394 MESH:D004476|MESH:D009216|MESH:D014786|MESH:D020417 C10.292.562.675.300/C563394|C10.597.751.941/C563394|C11.590.400.300/C563394|C11.744.636/C563394|C11.966/C563394|C16.131.077.350/C563394|C16.131.831.350/C563394|C16.320.850.250/C563394|C16.614.643/C563394|C17.800.804.350/C563394|C17.800.827.250/C563394|C23.888.592.763.941/C563394 C10.292.562.675.300|C10.597.751.941|C11.590.400.300|C11.744.636|C11.966|C16.131.077.350|C16.131.831.350|C16.320.850.250|C16.614.643|C17.800.804.350|C17.800.827.250|C23.888.592.763.941 Congenital abnormality|Eye disease|Genetic disease (inborn)|Infant-newborn disease|Nervous system disease|Signs and symptoms|Skin disease Aplasia cutis congenita intestinal lymphangiectasia MESH:C537788 MESH:D004476|MESH:D008201 C15.604.360.500/C537788|C15.604.451.500/C537788|C16.131.077.350/C537788|C16.131.482.500/C537788|C16.131.831.350/C537788|C16.320.850.250/C537788|C17.800.804.350/C537788|C17.800.827.250/C537788 C15.604.360.500|C15.604.451.500|C16.131.077.350|C16.131.482.500|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 ACC with intestinal lymphangiectasia|Aplasia Cutis Congenita With Intestinal Lymphangiectasia Congenital abnormality|Genetic disease (inborn)|Lymphatic disease|Skin disease Aplasia cutis congenita of limbs recessive MESH:C536840 MESH:D002754|MESH:D004476 C08.460.171/C536840|C08.695.271/C536840|C09.603.171/C536840|C16.131.077.350/C536840|C16.131.740.271/C536840|C16.131.831.350/C536840|C16.320.850.250/C536840|C17.800.804.350/C536840|C17.800.827.250/C536840 C08.460.171|C08.695.271|C09.603.171|C16.131.077.350|C16.131.740.271|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Aplasia Cutis Congenita of Limbs, Recessive|Congenital absence of skin on the upper or lower limbs|Recessive aplasia cutis congenita of the limbs Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease|Skin disease Aplasia Cutis Congenita with Epibulbar Dermoids MESH:C563969 DO:DOID:0111705 MESH:D003884|MESH:D004476 C04.182.201/C563969|C04.557.465.910.250/C563969|C16.131.077.350/C563969|C16.131.831.350/C563969|C16.320.850.250/C563969|C17.800.804.350/C563969|C17.800.827.250/C563969 C04.182.201|C04.557.465.910.250|C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Oculoectodermal Syndrome Cancer|Congenital abnormality|Genetic disease (inborn)|Skin disease Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy MESH:C565945 MESH:D006228|MESH:D009135|MESH:D011115 C05.390.408/C565945|C05.651/C565945|C05.660.585.988.425/C565945|C10.668.491/C565945|C10.668.829.800/C565945|C16.131.621.585.988.500/C565945 C05.390.408|C05.651|C05.660.585.988.425|C10.668.491|C10.668.829.800|C16.131.621.585.988.500 Congenital abnormality|Musculoskeletal disease|Nervous system disease Aplasia of Lacrimal and Salivary Glands MESH:C562407 DO:DOID:0111549|OMIM:180920 MESH:D007766|MESH:D012466 C07.465.815/C562407|C11.496/C562407 C07.465.815|C11.496 ALSG|PAROTID APLASIA OR HYPOPLASIA, INCLUDED|Salivary Glands, Absence of|SALIVARY GLANDS, ABSENCE OF, INCLUDED Eye disease|Mouth disease Aplastic anemia, idiopathic MESH:C538494 MESH:D000741 C15.378.071.085/C538494|C15.378.190.223.250/C538494 C15.378.071.085|C15.378.190.223.250 Blood disease Apnea MESH:D001049 A transient absence of spontaneous respiration. MESH:D012120|MESH:D012818 C08.618.085|C23.888.852.130 C08.618|C23.888.852 Apneas Respiratory tract disease|Signs and symptoms Apolipoprotein C-III Deficiency MESH:C566270 DO:DOID:0111370|OMIM:614028 MESH:D006951 C18.452.584.500.500.644/C566270 C18.452.584.500.500.644 HALP2|HYPERALPHALIPOPROTEINEMIA 2 Metabolic disease Apolipoprotein E, Deficiency or Defect of MESH:C566260 MESH:D008052 C16.320.565.398/C566260|C18.452.584.563/C566260|C18.452.648.398/C566260 C16.320.565.398|C18.452.584.563|C18.452.648.398 Genetic disease (inborn)|Metabolic disease Apparent mineralocorticoid excess MESH:C537422 OMIM:218030 MESH:D043204 C16.320.565.925.500/C537422|C18.452.648.925.500/C537422 C16.320.565.925.500|C18.452.648.925.500 AME|AME1|Cortisol 11-beta-ketoreductase deficiency Genetic disease (inborn)|Metabolic disease Appendiceal Neoplasms MESH:D001063 DO:DOID:11239|DO:DOID:11240 Tumors or cancer of the APPENDIX. MESH:D002430 C04.588.274.476.411.184.290|C06.301.371.411.184.290|C06.405.249.411.184.290|C06.405.469.110.417.290|C06.405.469.491.184.290 C04.588.274.476.411.184|C06.301.371.411.184|C06.405.249.411.184|C06.405.469.110.417|C06.405.469.491.184 Appendiceal Cancer|Appendiceal Neoplasm|Appendix Cancer|Cancer, Appendiceal|Cancer, Appendix|Cancer of Appendix|Cancer of the Appendix|Neoplasm, Appendiceal|Neoplasms, Appendiceal Cancer|Digestive system disease Appendicitis MESH:D001064 DO:DOID:8337 Acute inflammation of the APPENDIX. Acute appendicitis is classified as simple, gangrenous, or perforated. MESH:D002429|MESH:D005759|MESH:D059413 C01.463.099|C06.405.205.099|C06.405.469.110.207 C01.463|C06.405.205|C06.405.469.110 Appendicitis, Perforated|Appendicitis, Ruptured|Perforated Appendicitis|Ruptured Appendicitis Digestive system disease Apraxia, Ideomotor MESH:D020240 DO:DOID:4627 A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57) MESH:D001072 C10.597.606.881.350.200|C23.888.592.604.882.350.200 C10.597.606.881.350|C23.888.592.604.882.350 Apraxia, Classic|Apraxia, Ideokinetic|Apraxia, Limb Kinetic|Apraxias, Classic|Apraxias, Ideokinetic|Apraxias, Ideomotor|Apraxias, Limb Kinetic|Apraxias, Transcortical|Apraxia, Transcortical|Classic Apraxia|Classic Apraxias|Dyspraxia, Ideomotor|Dyspraxias, Ideomotor|Ideokinetic Apraxia|Ideokinetic Apraxias|Ideomotor Apraxia|Ideomotor Apraxias|Ideomotor Dyspraxia|Ideomotor Dyspraxias|Kinetic Apraxia, Limb|Kinetic Apraxias, Limb|Limb Kinetic Apraxia|Limb Kinetic Apraxias|Transcortical Apraxia|Transcortical Apraxias Nervous system disease|Signs and symptoms Apraxia, oculomotor, Cogan type MESH:C537423 OMIM:257550 MESH:D001072|MESH:D055952 C10.292.910.299/C537423|C10.597.606.881.350/C537423|C11.180/C537423|C14.907.940.320/C537423|C23.888.592.604.882.350/C537423 C10.292.910.299|C10.597.606.881.350|C11.180|C14.907.940.320|C23.888.592.604.882.350 Cogan's syndrome, type 2|COMA|Congenital Oculomotor Apraxia|Ocular Motor Apraxia|Oculomotor Apraxia, Cogan Type|Saccade initiation failure, congenital Cardiovascular disease|Eye disease|Nervous system disease|Signs and symptoms Apraxias MESH:D001072 DO:DOID:0060135|OMIM:602081 A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7) MESH:D011596 C10.597.606.881.350|C23.888.592.604.882.350 C10.597.606.881|C23.888.592.604.882 1s, Speech-Language Disorder|Apraxia|Apraxia, Articulatory|Apraxia, Developmental Verbal|Apraxia, Dressing|Apraxia, Facial Oral|Apraxia, Facial-Oral|Apraxia, Gestural|Apraxia, Ideational|Apraxia, Motor|Apraxia of Phonation|Apraxia, Oral|Apraxias, Articulatory|Apraxias, Developmental Verbal|Apraxias, Dressing|Apraxias, Facial-Oral|Apraxias, Gestural|Apraxias, Ideational|Apraxias, Motor|Apraxias, Oral|Apraxias, Verbal|Apraxia, Verbal|Articulatory Apraxia|Articulatory Apraxias|Articulatory Dyspraxia|Articulatory Dyspraxias|CAS|CHILDHOOD APRAXIA OF SPEECH|Developmental Verbal Apraxia|Developmental Verbal Apraxias|Developmental Verbal Dyspraxia|Developmental Verbal Dyspraxias|Disorder 1, Speech-Language|Disorder 1s, Speech-Language|Dressing Apraxia|Dressing Apraxias|DVD|Dyspraxia|Dyspraxia, Articulatory|Dyspraxia, Developmental Verbal|Dyspraxia, Oral|Dyspraxias|Dyspraxias, Articulatory|Dyspraxias, Developmental Verbal|Dyspraxias, Oral|Dyspraxias, Verbal|Dyspraxia, Verbal|Facial-Oral Apraxia|Facial-Oral Apraxias|Gestural Apraxia|Gestural Apraxias|Ideational Apraxia|Ideational Apraxias|Motor Apraxia|Motor Apraxias|Oral Apraxia|Oral Apraxias|Oral Dyspraxia|Oral Dyspraxias|Phonation Apraxia|Phonation Apraxias|SPCH1|Speech And Language Disorder With Orofacial Dyspraxia|Speech Language Disorder 1|Speech-Language Disorder 1|Speech-Language Disorder 1s|Verbal Apraxia|Verbal Apraxia, Developmental|Verbal Apraxias|Verbal Apraxias, Developmental|Verbal Dyspraxia|Verbal Dyspraxia, Developmental|Verbal Dyspraxias|Verbal Dyspraxias, Developmental Nervous system disease|Signs and symptoms Aprosencephaly and Cerebellar Dysgenesis MESH:C563331 MESH:D000757 C10.500.680.196/C563331|C16.131.085.197/C563331|C16.131.666.680.196/C563331 C10.500.680.196|C16.131.085.197|C16.131.666.680.196 Congenital abnormality|Nervous system disease Apudoma MESH:D001079 A general term collectively applied to tumors associated with the APUD CELLS series, irrespective of their specific identification. MESH:D000236|MESH:D018358 C04.557.465.625.650.135|C04.557.470.035.250|C04.557.580.625.650.135 C04.557.465.625.650|C04.557.470.035|C04.557.580.625.650 Apudomas Cancer Arachnodactyly MESH:D054119 An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes. MESH:D017880 C05.660.585.174|C16.131.621.585.174 C05.660.585|C16.131.621.585 Arachnodactylies Congenital abnormality|Musculoskeletal disease Arachnodactyly ataxia cataract aminoaciduria mental retardation MESH:C537424 MESH:D002386|MESH:D008607|MESH:D054119 C05.660.585.174/C537424|C10.597.606.360/C537424|C11.510.245/C537424|C16.131.621.585.174/C537424|C23.888.592.604.646/C537424|F03.625.539/C537424 C05.660.585.174|C10.597.606.360|C11.510.245|C16.131.621.585.174|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Arachnoid Cysts MESH:D016080 Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115) MESH:D003560|MESH:D020863 C04.182.044|C04.588.614.250.387.100|C10.500.142.100|C10.551.240.375.100|C16.131.666.142.100 C04.182|C04.588.614.250.387|C10.500.142|C10.551.240.375|C16.131.666.142 Arachnoid Cyst, Intracranial|Arachnoid Cysts, Intracranial|Arachnoid Diverticula|Arachnoid Diverticulas|Cyst, Arachnoid|Cyst, Intracranial Arachnoid|Cyst, Leptomeningeal|Cysts, Arachnoid|Cysts, Intracranial Arachnoid|Cysts, Leptomeningeal|Diverticula, Arachnoid|Diverticulas, Arachnoid|Intracranial Arachnoid Cyst|Intracranial Arachnoid Cysts|Leptomeningeal Cyst|Leptomeningeal Cysts Cancer|Congenital abnormality|Nervous system disease Arachnoiditis MESH:D001100 DO:DOID:12156 Acute or chronic inflammation of the arachnoid membrane of the meninges most often involving the spinal cord or base of the brain. This term generally refers to a persistent inflammatory process characterized by thickening of the ARACHNOID membrane and dural adhesions. Associated conditions include prior surgery, infections, trauma, SUBARACHNOID HEMORRHAGE, and chemical irritation. Clinical features vary with the site of inflammation, but include cranial neuropathies, radiculopathies, and myelopathies. (From Joynt, Clinical Neurology, 1997, Ch48, p25) MESH:D008581 C10.586.625.097 C10.586.625 Arachnoiditides|Arachnoid Membrane Inflammation|Arachnoid Membrane Inflammations|Inflammation, Arachnoid Membrane|Inflammations, Arachnoid Membrane Nervous system disease Arachnophobia MESH:C000719193 MESH:D010698 F03.080.725/C000719193 F03.080.725 Fear of spiders|Phobia, spiders Mental disorder Arakawa syndrome 2 MESH:C537426 MESH:D000592 C16.320.565.100/C537426|C18.452.648.100/C537426 C16.320.565.100|C18.452.648.100 Arakawa's syndrome 2|Methionine synthase deficiency|N5-methylhomocysteine transferase deficiency|Tetrahydrofolate-methyltransferase deficiency syndrome Genetic disease (inborn)|Metabolic disease ARBOLEDA-THAM SYNDROME OMIM:616268 DO:DOID:0070062 MESH:D006330|MESH:D007805|MESH:D008607|MESH:D008831 C05.660.207.620/616268|C10.500.507.400.500/616268|C10.597.606.150.500.550/616268|C10.597.606.360/616268|C14.240.400/616268|C14.280.400/616268|C16.131.240.400/616268|C16.131.621.207.620/616268|C16.131.666.507.400.500/616268|C23.888.592.604.150.500.550/616268|C23.888.592.604.646/616268|F03.625.539/616268 C05.660.207.620|C10.500.507.400.500|C10.597.606.150.500.550|C10.597.606.360|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.604.150.500.550|C23.888.592.604.646|F03.625.539 ARTHS|KAT6A SYNDROME|MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, FORMERLY|MRD32, FORMERLY Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Arbovirus Infections MESH:D001102 DO:DOID:934 Infections caused by arthropod-borne viruses, general or unspecified. MESH:D000079426|MESH:D014777 C01.920.500|C01.925.081 C01.920|C01.925 Arbovirus Infection|Infection, Arbovirus|Infections, Arbovirus Viral disease Arcus Senilis MESH:D001112 DO:DOID:11342 A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera. MESH:D003318 C11.204.299.070 C11.204.299 Arcus Corneae|Arcus, Corneal|Corneal Arcus Eye disease AREDYLD Syndrome MESH:C537427 MESH:D003923|MESH:D004476|MESH:D014071 C07.650.800/C537427|C07.793.700/C537427|C16.131.077.350/C537427|C16.131.831.350/C537427|C16.131.850.800/C537427|C16.320.850.250/C537427|C17.800.804.350/C537427|C17.800.827.250/C537427|C18.452.394.750.149.500/C537427|C19.246.300.500/C537427 C07.650.800|C07.793.700|C16.131.077.350|C16.131.831.350|C16.131.850.800|C16.320.850.250|C17.800.804.350|C17.800.827.250|C18.452.394.750.149.500|C19.246.300.500 Acral renal ectodermal dysplasia lipoatrophic diabetes|Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes|AREDYLD Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Mouth disease|Skin disease Arena syndrome MESH:C537428 MESH:D015419|MESH:D038901 C10.500.300.820/C537428|C10.574.500.495.820/C537428|C10.597.606.360.455/C537428|C10.668.829.800.300.820/C537428|C16.131.666.300.820/C537428|C16.320.322.500/C537428|C16.320.400.375.820/C537428|C16.320.400.525/C537428 C10.500.300.820|C10.574.500.495.820|C10.597.606.360.455|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.322.500|C16.320.400.375.820|C16.320.400.525 Spastic paraplegia with iron deposits in basal ganglia Congenital abnormality|Genetic disease (inborn)|Nervous system disease Arenaviridae Infections MESH:D001117 Virus diseases caused by the ARENAVIRIDAE. MESH:D012327 C01.925.782.082 C01.925.782 Arenaviridae Infection|Arenavirus Infection|Arenavirus Infections|Infection, Arenaviridae|Infection, Arenavirus|Infections, Arenaviridae|Infections, Arenavirus Viral disease Arene Oxide Detoxification Defect MESH:C565043 MESH:D008661 C16.320.565/C565043|C18.452.648/C565043 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Arginine-Glycine Amidinotransferase Deficiency MESH:C567192 OMIM:612718 MESH:D000592|MESH:D002658|MESH:D008607|MESH:D013064 C10.597.606.150.500.800/C567192|C10.597.606.360/C567192|C16.320.565.100/C567192|C18.452.648.100/C567192|C23.888.592.604.150.500.800/C567192|C23.888.592.604.646/C567192|F03.625.421/C567192|F03.625.539/C567192 C10.597.606.150.500.800|C10.597.606.360|C16.320.565.100|C18.452.648.100|C23.888.592.604.150.500.800|C23.888.592.604.646|F03.625.421|F03.625.539 AGAT Deficiency|Arginine:Glycine Amidinotransferase Deficiency|CCDS3|CEREBRAL CREATINE DEFICIENCY SYNDROME 3|Creatine Deficiency Syndrome due to AGAT Deficiency|GATM Deficiency|L-Arginine:Glycine Aminidotransferase Deficiency Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Argininosuccinic Aciduria MESH:D056807 DO:DOID:14755|OMIM:207900 Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder. MESH:D056806 C10.228.140.163.100.937.124|C16.320.565.100.940.124|C16.320.565.189.937.124|C18.452.132.100.937.124|C18.452.648.100.940.124|C18.452.648.189.937.124 C10.228.140.163.100.937|C16.320.565.100.940|C16.320.565.189.937|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937 Acidemia, Argininosuccinate|Acidemias, Argininosuccinate|Aciduria, Argininosuccinic|Acidurias, Argininosuccinic|Arginino Succinase Deficiencies|Argininosuccinase Deficiency|Arginino Succinase Deficiency|Argininosuccinate Acidemia|Argininosuccinate Acidemias|Argininosuccinate Lyase Deficiencies|Argininosuccinate Lyase Deficiency|Argininosuccinic Acidemia|Argininosuccinic Acid Lyase Deficiency|Argininosuccinicaciduria|Argininosuccinicacidurias|Argininosuccinic Acidurias|Argininosuccinyl-Coa Lyase Deficiency|Arginosuccinase Deficiency|ASA Deficiencies|ASA Deficiency|Asauria|ASL Deficiencies|ASL Deficiency|Deficiencies, Arginino Succinase|Deficiencies, Argininosuccinate Lyase|Deficiencies, ASA|Deficiencies, ASL|Deficiency, Arginino Succinase|Deficiency, Argininosuccinate Lyase|Deficiency, ASA|Deficiency, ASL|Inborn Error of Urea Synthesis, Arginino Succinic Type|Urea Cycle Disorder, Arginino Succinase Type Genetic disease (inborn)|Metabolic disease|Nervous system disease Argyria MESH:D001129 A permanent ashen-gray discoloration of the skin, conjunctiva, and internal organs resulting from long-continued use of silver salts. (Dorland, 27th ed) MESH:D000075322|MESH:D010859 C17.800.621.166|C25.723.522.313 C17.800.621|C25.723.522 Argyrias Skin disease Arhinia, choanal atresia, and microphthalmia MESH:C537429 OMIM:603457 MESH:D002754|MESH:D008850 C08.460.171/C537429|C08.695.271/C537429|C09.603.171/C537429|C11.250.566/C537429|C16.131.384.666/C537429|C16.131.740.271/C537429 C08.460.171|C08.695.271|C09.603.171|C11.250.566|C16.131.384.666|C16.131.740.271 ARHINIA, CHOANAL ATRESIA, MICROPHTHALMIA, AND HYPOGONADOTROPIC HYPOGONADISM|BAMS|Bosma arhinia microphthalmia syndrome Congenital abnormality|Ear-nose-throat disease|Eye disease|Respiratory tract disease Arima syndrome MESH:C537430 MESH:D002526|MESH:D003103|MESH:D007690 C10.228.140.252/C537430|C11.250.110/C537430|C11.270.147/C537430|C12.050.351.968.419.403.875/C537430|C12.200.777.419.403.875/C537430|C12.950.419.403.875/C537430|C16.131.077.717/C537430|C16.131.384.282/C537430|C16.320.184.625/C537430 C10.228.140.252|C11.250.110|C11.270.147|C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.717|C16.131.384.282|C16.320.184.625 Cerebro-oculo-hepato-renal syndrome|Chorioretinal coloboma with cerebellar vermis aplasia|Coloboma, Chorioretinal, With Cerebellar Vermis Aplasia|Dekaban Arima syndrome|Dekaban-Arima Syndrome|Joubert syndrome with bilateral chorioretinal coloboma Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Armfield X-Linked Mental Retardation Syndrome MESH:C564551 OMIM:300261 MESH:D038901 C10.597.606.360.455/C564551|C16.320.322.500/C564551|C16.320.400.525/C564551 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE|Mental Retardation, X-Linked, Armfield Type|MRXSA Genetic disease (inborn)|Nervous system disease Arm Injuries MESH:D001134 General or unspecified injuries involving the UPPER ARM and the FOREARM. MESH:D014947 C26.088 C26 Arm Injury|Injuries, Arm|Injury, Arm Wounds and injuries Arms, Malformation of MESH:C566258 MESH:D017880 C05.660.585/C566258|C16.131.621.585/C566258 C05.660.585|C16.131.621.585 Congenital abnormality|Musculoskeletal disease Arnold-Chiari Malformation MESH:D001139 A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46) MESH:D009436 C10.500.680.291|C16.131.666.680.291 C10.500.680|C16.131.666.680 Arnold Chiari Deformity|Arnold-Chiari Deformity|Arnold Chiari Malformation|Arnold Chiari Malformation, Type 1|Arnold-Chiari Malformation, Type 1|Arnold Chiari Malformation, Type 2|Arnold-Chiari Malformation, Type 2|Arnold Chiari Malformation, Type 3|Arnold-Chiari Malformation, Type 3|Arnold Chiari Malformation, Type 4|Arnold-Chiari Malformation, Type 4|Arnold Chiari Malformation, Type I|Arnold-Chiari Malformation, Type I|Arnold Chiari Malformation, Type II|Arnold-Chiari Malformation, Type II|Arnold Chiari Malformation, Type III|Arnold-Chiari Malformation, Type III|Arnold Chiari Malformation, Type IV|Arnold-Chiari Malformation, Type IV|Arnold Chiari Syndrome|Arnold-Chiari Syndrome|Chiari Malformation Type 2|Chiari Malformation Type I|Chiari Malformation Type II|Deformity, Arnold-Chiari|Malformation, Arnold Chiari|Malformation, Arnold-Chiari|Syndrome, Arnold-Chiari|Type I Arnold Chiari Malformation|Type I Arnold-Chiari Malformation|Type II Arnold Chiari Malformation|Type II Arnold-Chiari Malformation|Type III Arnold Chiari Malformation|Type III Arnold-Chiari Malformation|Type IV Arnold Chiari Malformation|Type IV Arnold-Chiari Malformation Congenital abnormality|Nervous system disease Arnold Stickler Bourne syndrome MESH:C537431 MESH:D003316|MESH:D007674|MESH:D009133 C10.597.613.612/C537431|C11.204/C537431|C12.050.351.968.419/C537431|C12.200.777.419/C537431|C12.950.419/C537431|C23.300.070.500/C537431|C23.888.592.608.612/C537431 C10.597.613.612|C11.204|C12.050.351.968.419|C12.200.777.419|C12.950.419|C23.300.070.500|C23.888.592.608.612 Corneal crystals myopathy and nephropathy Eye disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Aromatase deficiency MESH:C537436 OMIM:139300|OMIM:613546 MESH:D006177|MESH:D007248|MESH:D008661|MESH:D058489 C12.050.351.875.253.064/C537436|C12.100.500.430/C537436|C12.100.750.700/C537436|C12.200.294.430/C537436|C12.200.706.316.064/C537436|C12.800.316.064/C537436|C16.131.939.316.064/C537436|C16.320.565/C537436|C17.800.090.875/C537436|C18.452.648/C537436|C19.391.119.064/C537436 C12.050.351.875.253.064|C12.100.500.430|C12.100.750.700|C12.200.294.430|C12.200.706.316.064|C12.800.316.064|C16.131.939.316.064|C16.320.565|C17.800.090.875|C18.452.648|C19.391.119.064 AEXS|AROMATASE ACTIVITY, INCREASED GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY, INCLUDED|AROMATASE EXCESS SYNDROME|GYNECOMASTIA, HEREDITARY, INCLUDED|Pseudohermaphroditism, female, due to placental aromatase deficiency Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) Aromatic amino acid decarboxylase deficiency MESH:C537437 DO:DOID:0090123|OMIM:608643 MESH:D000592 C16.320.565.100/C537437|C18.452.648.100/C537437 C16.320.565.100|C18.452.648.100 AADCD|AADC DEFICIENCY|AADC deficiency Aromatic L-amino acid decarboxylase deficiency|Aromatic L-amino acid decarboxylase deficiency|DDC deficiency|Dopa decarboxylase deficiency Genetic disease (inborn)|Metabolic disease Arrest of spermatogenesis MESH:C536875 MESH:D053713 C12.100.500.430.380/C536875|C12.100.750.700.380/C536875|C12.200.294.430.380/C536875 C12.100.500.430.380|C12.100.750.700.380|C12.200.294.430.380 Azoospermia Due To Perturbations Of Meiosis|Azoospermia With Maturation Arrest|Spermatogenesis arrest|Spermatogenic failure 4|SPGF4 Urogenital disease (male) Arrhenoblastoma--Thyroid Adenoma MESH:C566256 MESH:D006044|MESH:D018310 C04.557.475.750.847/C566256|C04.588.322.455.648/C566256|C04.588.322.762.500/C566256|C04.588.945.440.915.500/C566256|C12.050.351.500.056.630.705.648/C566256|C12.050.351.937.418.685.648/C566256|C12.100.250.056.630.705.648/C566256|C12.100.500.260.937.500/C566256|C12.200.294.260.937.500/C566256|C12.200.758.409.937.500/C566256|C12.900.418.685.648/C566256|C12.900.619.937.500/C566256|C19.344.410.648/C566256|C19.344.762.500/C566256|C19.391.630.705.648/C566256|C19.391.829.782.500/C566256|C19.874.283.501/C566256 C04.557.475.750.847|C04.588.322.455.648|C04.588.322.762.500|C04.588.945.440.915.500|C12.050.351.500.056.630.705.648|C12.050.351.937.418.685.648|C12.100.250.056.630.705.648|C12.100.500.260.937.500|C12.200.294.260.937.500|C12.200.758.409.937.500|C12.900.418.685.648|C12.900.619.937.500|C19.344.410.648|C19.344.762.500|C19.391.630.705.648|C19.391.829.782.500|C19.874.283.501 Cancer|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Arrhinia MESH:C537438 MESH:D000013 C16.131/C537438 C16.131 Congenital absence of the nose|Nose agenesia Congenital abnormality Arrhythmias, Cardiac MESH:D001145 OMIM:115000 Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction. MESH:D006331|MESH:D010335 C14.280.067|C23.550.073 C14.280|C23.550 Arrhythmia|Arrhythmia, Cardiac|Arrythmia|Cardiac Arrhythmia|Cardiac Arrhythmias|Cardiac Dysrhythmia|Dysrhythmia, Cardiac|RYR2 CALCIUM RELEASE DEFICIENCY SYNDROME|VACRDS|VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME Cardiovascular disease|Pathology (process) Arrhythmia, Sinus MESH:D001146 Irregular HEART RATE caused by abnormal function of the SINOATRIAL NODE. It is characterized by a greater than 10% change between the maximum and the minimum sinus cycle length or 120 milliseconds. MESH:D001145 C14.280.067.093|C23.550.073.093 C14.280.067|C23.550.073 Arrhythmia, Sinoatrial|Arrhythmias, Sinoatrial|Arrhythmias, Sinus|Sinoatrial Arrhythmia|Sinoatrial Arrhythmias|Sinus Arrhythmia|Sinus Arrhythmias Cardiovascular disease|Pathology (process) Arrhythmogenic Right Ventricular Dysplasia MESH:D019571 DO:DOID:0050431 A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias. MESH:D006330|MESH:D009202 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 C14.240.400|C14.280.238|C14.280.400|C16.131.240.400 Arrhythmogenic Right Ventricular Cardiomyopathy|Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia|Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia|Arrhythmogenic Right Ventricular Dysplasia-Cardiomyopathy|ARVD-C|Right Ventricular Dysplasia, Arrhythmogenic|Ventricular Dysplasia, Right, Arrhythmogenic Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 MESH:C566254 OMIM:107970 MESH:D019571 C14.240.400.145/C566254|C14.280.238.028/C566254|C14.280.400.145/C566254|C16.131.240.400.145/C566254 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 1|ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1;ARVC1 UHL ANOMALY, INCLUDED|ARVD1|CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED, INCLUDED Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 MESH:C565707 OMIM:610193 MESH:D019571 C14.240.400.145/C565707|C14.280.238.028/C565707|C14.280.400.145/C565707|C16.131.240.400.145/C565707 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 10|ARVC10|ARVD10 Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 MESH:C566471 OMIM:610476 MESH:D019571 C14.240.400.145/C566471|C14.280.238.028/C566471|C14.280.400.145/C566471|C16.131.240.400.145/C566471 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 11|ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11;ARVC11 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR, INCLUDED|ARVD11 Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 MESH:C566925 OMIM:611528 MESH:D019571 C14.240.400.145/C566925|C14.280.238.028/C566925|C14.280.400.145/C566925|C16.131.240.400.145/C566925 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 12|ARVC12|ARVD12 Cardiovascular disease|Congenital abnormality ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 OMIM:615616 DO:DOID:0110084 MESH:D019571 C14.240.400.145/615616|C14.280.238.028/615616|C14.280.400.145/615616|C16.131.240.400.145/615616 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13|ARVC13|ARVD13 Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 MESH:C563409 MESH:D019571 C14.240.400.145/C563409|C14.280.238.028/C563409|C14.280.400.145/C563409|C16.131.240.400.145/C563409 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 2 Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 MESH:C566584 OMIM:602086 MESH:D019571 C14.240.400.145/C566584|C14.280.238.028/C566584|C14.280.400.145/C566584|C16.131.240.400.145/C566584 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 3|ARVC3|ARVD3 Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 MESH:C566583 OMIM:602087 MESH:D019571 C14.240.400.145/C566583|C14.280.238.028/C566583|C14.280.400.145/C566583|C16.131.240.400.145/C566583 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 4|ARVC4|ARVD4 Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 MESH:C565776 OMIM:604400 MESH:D019571 C14.240.400.145/C565776|C14.280.238.028/C565776|C14.280.400.145/C565776|C16.131.240.400.145/C565776 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 5|ARVC5|ARVD5 Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 MESH:C565775 OMIM:604401 MESH:D019571 C14.240.400.145/C565775|C14.280.238.028/C565775|C14.280.400.145/C565775|C16.131.240.400.145/C565775 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 6|ARVC6|ARVD6 Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 MESH:C563784 MESH:D019571 C14.240.400.145/C563784|C14.280.238.028/C563784|C14.280.400.145/C563784|C16.131.240.400.145/C563784 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 7|Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy|Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy|Myopathy, Desmin-Related, with Arrhythmogenic Right Ventricular Cardiomyopathy Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 MESH:C564400 OMIM:607450 MESH:D019571 C14.240.400.145/C564400|C14.280.238.028/C564400|C14.280.400.145/C564400|C16.131.240.400.145/C564400 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 8|ARVC8|ARVD8 Cardiovascular disease|Congenital abnormality Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 MESH:C563808 OMIM:609040 MESH:D019571 C14.240.400.145/C563808|C14.280.238.028/C563808|C14.280.400.145/C563808|C16.131.240.400.145/C563808 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145 Arrhythmogenic Right Ventricular Cardiomyopathy 9|ARVC9|ARVD9 Cardiovascular disease|Congenital abnormality Arroyo Garcia Cimadevilla syndrome MESH:C537439 MESH:D000853|MESH:D003456|MESH:D004933 C06.198.330/C537439|C06.405.117.260/C537439|C11.250.080/C537439|C12.100.500.829.258/C537439|C12.200.294.829.258/C537439|C12.200.706.258/C537439|C12.800.258/C537439|C16.131.314.330/C537439|C16.131.384.159/C537439|C16.131.939.258/C537439|C19.391.829.258/C537439 C06.198.330|C06.405.117.260|C11.250.080|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C16.131.314.330|C16.131.384.159|C16.131.939.258|C19.391.829.258 Bilateral anophthalmia, esophageal atresia, and right cryptorchidism Congenital abnormality|Digestive system disease|Endocrine system disease|Eye disease|Urogenital disease (male) Arsenic Poisoning MESH:D020261 Disorders associated with acute or chronic exposure to compounds containing ARSENIC (ARSENICALS) which may be fatal. Acute oral ingestion is associated with gastrointestinal symptoms and an encephalopathy which may manifest as SEIZURES, mental status changes, and COMA. Chronic exposure is associated with mucosal irritation, desquamating rash, myalgias, peripheral neuropathy, and white transverse (Mees) lines in the fingernails. (Adams et al., Principles of Neurology, 6th ed, p1212) MESH:D011041|MESH:D020260 C10.720.475.150|C25.723.098 C10.720.475|C25.723 Arsenical Neurotoxicity Syndrome|Arsenical Neurotoxicity Syndromes|Arsenic Encephalopathies|Arsenic Encephalopathy|Arsenic-Induced Polyneuropathies|Arsenic Induced Polyneuropathy|Arsenic-Induced Polyneuropathy|Arsenic Poisoning, Inorganic|Arsenic Poisoning, Nervous System|Arsenic Poisoning, Organic|Arsenic Poisonings|Arsenic Poisonings, Inorganic|Arsenic Poisonings, Organic|Encephalopathies, Arsenic|Encephalopathy, Arsenic|Inorganic Arsenic Poisoning|Inorganic Arsenic Poisonings|Nervous System, Organic Arsenic Poisoning|Nervous System Poisoning, Arsenic|Neurotoxicity Syndrome, Arsenical|Neurotoxicity Syndromes, Arsenical|Organic Arsenic Poisoning|Organic Arsenic Poisoning, Nervous System|Organic Arsenic Poisonings|Poisoning, Arsenic|Poisoning, Arsenic, Nervous System|Poisoning, Inorganic Arsenic|Poisoning, Organic Arsenic|Poisonings, Arsenic|Poisonings, Inorganic Arsenic|Poisonings, Organic Arsenic|Polyneuropathy, Arsenic Induced|Polyneuropathy, Arsenic-Induced|Syndrome, Arsenical Neurotoxicity|Syndromes, Arsenical Neurotoxicity Nervous system disease Arterial calcification of infancy MESH:C537440 DO:DOID:0050644|OMIM:208000|OMIM:614473 MESH:D061205 C18.452.174.130.780/C537440 C18.452.174.130.780 Arterial Calcification, Generalized, Of Infancy|ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1|ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2|Arterial Calcification, Idiopathic Infantile|Arteriopathy, Occlusive Infantile|ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED|GACI|GACI1|GACI2|Generalized arterial calcification in infancy|Idiopathic infantile arterial calcification|IIAC|Occlusive infantile arteriopathy Metabolic disease Arterial Dissection with Lentiginosis MESH:C563937 MESH:D007911|MESH:D014652 C14.907/C563937|C17.800.621.430.530.550/C563937 C14.907|C17.800.621.430.530.550 Cardiovascular disease|Skin disease Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly MESH:C566529 OMIM:602531 MESH:D001157|MESH:D006330|MESH:D006973|MESH:D013576|MESH:D059327 C05.116.099.370.894.819/C566529|C05.660.585.262/C566529|C05.660.585.800/C566529|C05.660.906.819/C566529|C14.240.400/C566529|C14.280.400/C566529|C14.907.137/C566529|C14.907.489/C566529|C16.131.240.400/C566529|C16.131.621.585.262/C566529|C16.131.621.585.800/C566529|C16.131.621.906.819/C566529 C05.116.099.370.894.819|C05.660.585.262|C05.660.585.800|C05.660.906.819|C14.240.400|C14.280.400|C14.907.137|C14.907.489|C16.131.240.400|C16.131.621.585.262|C16.131.621.585.800|C16.131.621.906.819 ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY|Grange Occlusive Arterial Syndrome|GRANGE SYNDROME|GRNG Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Arterial Occlusive Diseases MESH:D001157 DO:DOID:341 Pathological processes which result in the partial or complete obstruction of ARTERIES. They are characterized by greatly reduced or absence of blood flow through these vessels. They are also known as arterial insufficiency. MESH:D014652 C14.907.137 C14.907 Arterial Obstructive Disease|Arterial Obstructive Diseases|Arterial Occlusion|Arterial Occlusions|Arterial Occlusive Disease|Disease, Arterial Obstructive|Disease, Arterial Occlusive|Obstructive Disease, Arterial|Occlusion, Arterial|Occlusive Disease, Arterial Cardiovascular disease Arterial Tortuosity Syndrome MESH:C565942 DO:DOID:0050645|OMIM:208050 MESH:D007593|MESH:D012873|MESH:D054079 C05.550.521/C565942|C14.240.850/C565942|C16.131.240.850/C565942|C16.320.850/C565942|C17.800.827/C565942 C05.550.521|C14.240.850|C16.131.240.850|C16.320.850|C17.800.827 Arterial Tortuosity|ATORS|ATS Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Arterio-Arterial Fistula MESH:D001159 Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality. MESH:D016157|MESH:D054079 C14.240.850.984.500|C14.907.933.110|C16.131.240.850.500|C23.300.575.950.150 C14.240.850.984|C14.907.933|C16.131.240.850|C23.300.575.950 Arterio Arterial Fistula|Arterio-Arterial Fistulas|Fistula, Arterio-Arterial|Fistulas, Arterio-Arterial Cardiovascular disease|Congenital abnormality|Pathology (anatomical condition) Arteriolosclerosis MESH:D050379 DO:DOID:5162 Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition. MESH:D001161 C14.907.137.126.056 C14.907.137.126 Arterioloscleroses Cardiovascular disease Arteriosclerosis MESH:D001161 DO:DOID:2349 Thickening and loss of elasticity of the walls of ARTERIES of all sizes. There are many forms classified by the types of lesions and arteries involved, such as ATHEROSCLEROSIS with fatty lesions in the ARTERIAL INTIMA of medium and large muscular arteries. MESH:D001157 C14.907.137.126 C14.907.137 Arterioscleroses Cardiovascular disease Arteriosclerosis Obliterans MESH:D001162 DO:DOID:5160 Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION. MESH:D001161 C14.907.137.126.114 C14.907.137.126 Obliterans, Arteriosclerosis Cardiovascular disease Arteriosclerosis, Severe Juvenile MESH:C565941 MESH:D001161 C14.907.137.126/C565941 C14.907.137.126 Cardiovascular disease Arteriovenous Fistula MESH:D001164 An abnormal direct communication between an artery and a vein without passing through the CAPILLARIES. An A-V fistula usually leads to the formation of a dilated sac-like connection, arteriovenous aneurysm. The locations and size of the shunts determine the degree of effects on the cardiovascular functions such as BLOOD PRESSURE and HEART RATE. MESH:D001165|MESH:D016157 C14.240.850.750.147|C14.240.850.984.750|C14.907.150.125|C14.907.933.555|C16.131.240.850.750.125|C23.300.575.950.250 C14.240.850.750|C14.240.850.984|C14.907.150|C14.907.933|C16.131.240.850.750|C23.300.575.950 Aneurysm, Arteriovenous|Arteriovenous Aneurysm|Arteriovenous Fistulas|Fistula, Arteriovenous|Fistulas, Arteriovenous Cardiovascular disease|Congenital abnormality|Pathology (anatomical condition) Arteriovenous Malformations MESH:D001165 Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas. MESH:D014652|MESH:D054079 C14.240.850.750|C14.907.150|C16.131.240.850.750 C14.240.850|C14.907|C16.131.240.850 Arteriovenous Malformation|Malformation, Arteriovenous|Malformations, Arteriovenous Cardiovascular disease|Congenital abnormality Arteritis MESH:D001167 INFLAMMATION of any ARTERIES. MESH:D014657 C14.907.940.090 C14.907.940 Arterial Inflammation|Arteritides|Inflammation, Arterial Cardiovascular disease Arteritis, Familial Granulomatous, with Juvenile Polyarthritis MESH:C566253 MESH:D001171|MESH:D020293 C05.550.114.122/C566253|C05.799.056/C566253|C10.114.875/C566253|C10.228.140.300.850/C566253|C14.907.253.946/C566253|C14.907.940.907/C566253|C17.300.775.049/C566253|C20.111.198/C566253|C20.111.258.962/C566253 C05.550.114.122|C05.799.056|C10.114.875|C10.228.140.300.850|C14.907.253.946|C14.907.940.907|C17.300.775.049|C20.111.198|C20.111.258.962 Cardiovascular disease|Connective tissue disease|Immune system disease|Musculoskeletal disease|Nervous system disease Arterivirus Infections MESH:D018174 Infections caused by viruses of the genus ARTERIVIRUS. MESH:D030341 C01.925.782.600.100 C01.925.782.600 Arterivirus Infection|Infection, Arterivirus|Infections, Arterivirus Viral disease Arthralgia MESH:D018771 Pain in the joint. MESH:D007592|MESH:D010146 C05.550.091|C23.888.592.612.094 C05.550|C23.888.592.612 Arthralgias|Joint Pain|Joint Pains|Pain, Joint|Pains, Joint|Polyarthralgia|Polyarthralgias Musculoskeletal disease|Signs and symptoms Arthritis MESH:D001168 DO:DOID:848 Acute or chronic inflammation of JOINTS. MESH:D007592 C05.550.114 C05.550 Arthritides|Oligoarthritides|Oligoarthritis|Polyarthritides|Polyarthritis Musculoskeletal disease Arthritis, Experimental MESH:D001169 ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN. MESH:D001168 C05.550.114.015 C05.550.114 Adjuvant Arthritis|Arthritides, Collagen|Arthritis, Adjuvant|Arthritis, Adjuvant-Induced|Arthritis, Collagen|Arthritis, Collagen-Induced|Collagen Arthritides|Collagen Arthritis|Collagen-Induced Arthritides|Collagen-Induced Arthritis Musculoskeletal disease Arthritis, Gouty MESH:D015210 DO:DOID:13189 Arthritis, especially of the great toe, as a result of gout. Acute gouty arthritis often is precipitated by trauma, infection, surgery, etc. The initial attacks are usually monoarticular but later attacks are often polyarticular. Acute and chronic gouty arthritis are associated with accumulation of MONOSODIUM URATE in and around affected joints. MESH:D006073 C05.550.114.423.410|C05.550.354.500.500|C05.799.414.410|C16.320.565.798.368.410|C18.452.648.798.368.410 C05.550.114.423|C05.550.354.500|C05.799.414|C16.320.565.798.368|C18.452.648.798.368 Arthritides, Gouty|Gouty Arthritides|Gouty Arthritis Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Arthritis, Infectious MESH:D001170 DO:DOID:813 Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES. MESH:D001168|MESH:D007239 C01.100|C05.550.114.099 C01|C05.550.114 Arthritides, Bacterial|Arthritis, Bacterial|Arthritis, Septic|Arthritis, Suppurative|Arthritis, Viral|Bacterial Arthritides|Bacterial Arthritis|Infectious Arthritis|Septic Arthritis|Suppurative Arthritis|Viral Arthritis Musculoskeletal disease Arthritis, Juvenile MESH:D001171 Arthritis in children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent. MESH:D001168|MESH:D001327|MESH:D012216 C05.550.114.122|C05.799.056|C17.300.775.049|C20.111.198 C05.550.114|C05.799|C17.300.775|C20.111 Arthritides, Childhood|Arthritis, Childhood|Arthritis, Juvenile Chronic|Arthritis, Juvenile Enthesitis-Related|Arthritis, Juvenile Idiopathic|Arthritis, Juvenile Psoriatic|Arthritis, Juvenile Rheumatoid|Arthritis, Juvenile Systemic|Childhood Arthritides|Childhood Arthritis|Chronic Arthritis, Juvenile|Enthesitis Related Arthritis, Juvenile|Enthesitis-Related Arthritis, Juvenile|Idiopathic Arthritis, Juvenile|Juvenile Arthritis|Juvenile Chronic Arthritis|Juvenile Enthesitis-Related Arthritis|Juvenile Idiopathic Arthritis|Juvenile Oligoarthritis|Juvenile Onset Still Disease|Juvenile-Onset Still Disease|Juvenile Onset Stills Disease|Juvenile-Onset Still's Disease|Juvenile-Onset Stills Disease|Juvenile Psoriatic Arthritis|Juvenile Rheumatoid Arthritis|Juvenile Systemic Arthritis|Oligoarthritis, Juvenile|PCJIA|PJIA Polyarticular Juvenile Idiopathic Arthritis|Polyarthritis, Juvenile, Rheumatoid Factor Negative|Polyarthritis, Juvenile, Rheumatoid Factor Positive|Polyarticular-Course Juvenile Idiopathic Arthritis|Polyarticular Juvenile Idiopathic Arthritis|Psoriatic Arthritis, Juvenile|Rheumatoid Arthritis, Juvenile|Still Disease, Juvenile Onset|Still Disease, Juvenile-Onset|Still's Disease, Juvenile Onset|Still's Disease, Juvenile-Onset|Stills Disease, Juvenile-Onset|Systemic Arthritis, Juvenile Connective tissue disease|Immune system disease|Musculoskeletal disease Arthritis, Psoriatic MESH:D015535 DO:DOID:9008|OMIM:607507 A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor. MESH:D001168|MESH:D011565|MESH:D025242 C05.116.900.853.625.800.424|C05.550.114.145|C05.550.114.865.800.424|C17.800.859.675.175 C05.116.900.853.625.800|C05.550.114|C05.550.114.865.800|C17.800.859.675 Arthritic Psoriasis|Arthropathies, Psoriatic|Arthropathy, Psoriatic|PSORAS1,|PSORAS1, INCLUDED|Psoriasis, Arthritic|Psoriasis Arthropathica|Psoriatic Arthritis|PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO|PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1, INCLUDED|Psoriatic Arthropathies|Psoriatic Arthropathy Musculoskeletal disease|Skin disease Arthritis, Reactive MESH:D016918 DO:DOID:6196 An aseptic, inflammatory arthritis developing secondary to a primary extra-articular infection, most typically of the GASTROINTESTINAL TRACT or UROGENITAL SYSTEM. The initiating trigger pathogens are usually SHIGELLA; SALMONELLA; YERSINIA; CAMPYLOBACTER; or CHLAMYDIA TRACHOMATIS. Reactive arthritis is strongly associated with HLA-B27 ANTIGEN. MESH:D000094025|MESH:D001170|MESH:D025242 C01.100.500|C05.116.900.853.625.800.637|C05.550.114.099.500|C05.550.114.865.800.637|C23.550.291.500.829.125 C01.100|C05.116.900.853.625.800|C05.550.114.099|C05.550.114.865.800|C23.550.291.500.829 Arthritis, Postinfectious|Arthritis, Post Infectious|Arthritis, Post-Infectious|Postinfectious Arthritides|Post-Infectious Arthritides|Postinfectious Arthritis|Post Infectious Arthritis|Post-Infectious Arthritis|Reactive Arthritides|Reactive Arthritis|Reiter Disease|Reiter's Disease|Reiters Disease|Reiter's Syndrome|Reiters Syndrome|Reiter Syndrome Musculoskeletal disease|Pathology (process) Arthritis, Rheumatoid MESH:D001172 DO:DOID:7148|OMIM:180300 A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated. MESH:D001168|MESH:D001327|MESH:D012216 C05.550.114.154|C05.799.114|C17.300.775.099|C20.111.199 C05.550.114|C05.799|C17.300.775|C20.111 RA|Rheumatoid Arthritis|RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO Connective tissue disease|Immune system disease|Musculoskeletal disease Arthritis, Sacroiliac MESH:C563037 MESH:D001168 C05.550.114/C563037 C05.550.114 Sacroiliac arthritis Musculoskeletal disease Arthrogryposis MESH:D001176 Persistent flexure or contracture of a joint. MESH:D007592|MESH:D009135|MESH:D009139 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 C05.550|C05.651|C05.660|C16.131.621 Amyoplasia Congenita|Arthrogryposes|Arthrogryposes, Congenital Multiple|Arthrogryposis, Congenital Multiple|Arthrogryposis Multiplex Congenita|Arthrogryposis Multiplex Congenita (AMC)|Arthrogryposis Multiplex Congenitas|Arthrogryposis Multiplex Congenitas (AMC)|Arthromyodysplasia, Congenital|Arthromyodysplasias, Congenital|Congenita, Arthrogryposis Multiplex|Congenita, Arthrogryposis Multiplex (AMC)|Congenital Arthromyodysplasia|Congenital Arthromyodysplasias|Congenital Multiple Arthrogryposes|Congenital Multiple Arthrogryposis|Congenitas, Arthrogryposis Multiplex|Congenitas, Arthrogryposis Multiplex (AMC)|Fibrous Ankylosis of Multiple Joints|Guerin Stern Syndrome|Guerin-Stern Syndrome|Guérin Stern Syndrome|Guérin-Stern Syndrome|Multiple Arthrogryposes, Congenital|Multiple Arthrogryposis, Congenital|Multiplex Congenita, Arthrogryposis|Multiplex Congenita, Arthrogryposis (AMC)|Multiplex Congenitas, Arthrogryposis|Multiplex Congenitas, Arthrogryposis (AMC)|Myodystrophia Fetalis Deformans|Otto Syndrome|Rocher Sheldon Syndrome|Rocher-Sheldon Syndrome|Rossi Syndrome|Syndrome, Guerin-Stern|Syndrome, Guérin-Stern|Syndrome, Otto|Syndrome, Rocher-Sheldon|Syndrome, Rossi Congenital abnormality|Musculoskeletal disease Arthrogryposis and ectodermal dysplasia MESH:C537441 MESH:D001176|MESH:D004476 C05.550.150/C537441|C05.651.102/C537441|C05.660.077/C537441|C16.131.077.350/C537441|C16.131.621.077/C537441|C16.131.831.350/C537441|C16.320.850.250/C537441|C17.800.804.350/C537441|C17.800.827.250/C537441 C05.550.150|C05.651.102|C05.660.077|C16.131.077.350|C16.131.621.077|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Alves syndrome|Arthrogryposis ectodermal dysplasia other anomalies|Cote Adamopoulos Pantelakis syndrome|TODV syndrome|Trichooculodermovertebral syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED OMIM:300158 MESH:D001176 C05.550.150/300158|C05.651.102/300158|C05.660.077/300158|C16.131.621.077/300158 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 ACLLX|AMCX5, FORMERLY|ARTHROGRYPOSIS, X-LINKED, TYPE V, FORMERLY Congenital abnormality|Musculoskeletal disease Arthrogryposis, Distal, Type 10 MESH:C566069 DO:DOID:0111593 MESH:D001176 C05.550.150/C566069|C05.651.102/C566069|C05.660.077/C566069|C16.131.621.077/C566069 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Tendo Calcaneus, Short Congenital abnormality|Musculoskeletal disease ARTHROGRYPOSIS, DISTAL, TYPE 1A OMIM:108120 DO:DOID:0111597 MESH:D001176 C05.550.150/108120|C05.651.102/108120|C05.660.077/108120|C16.131.621.077/108120 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 ARTHROGRYPOSIS, DISTAL, TYPE 1|ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I;AMCD1 ARTHROGRYPOSIS, DISTAL, TYPE 2B4, INCLUDED|DA1|DA1A|DA2B4, INCLUDED Congenital abnormality|Musculoskeletal disease ARTHROGRYPOSIS, DISTAL, TYPE 1B OMIM:614335 DO:DOID:0111598 MESH:D001176 C05.550.150/614335|C05.651.102/614335|C05.660.077/614335|C16.131.621.077/614335 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 DA1B Congenital abnormality|Musculoskeletal disease Arthrogryposis, distal, type 2E MESH:C535384 MESH:D001176 C05.550.150/C535384|C05.651.102/C535384|C05.660.077/C535384|C16.131.621.077/C535384 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Contractures of fingers and jaw Congenital abnormality|Musculoskeletal disease ARTHROGRYPOSIS, DISTAL, TYPE 3 OMIM:114300 DO:DOID:0111607 MESH:D001176 C05.550.150/114300|C05.651.102/114300|C05.660.077/114300|C16.131.621.077/114300 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA|CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT|DA3|GORDON SYNDROME Congenital abnormality|Musculoskeletal disease Arthrogryposis, Distal, Type 4 MESH:C563791 DO:DOID:0111610|OMIM:609128 MESH:D001176 C05.550.150/C563791|C05.651.102/C563791|C05.660.077/C563791|C16.131.621.077/C563791 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Arthrogryposis, Distal, Type Iid|Arthrogryposis With Severe Scoliosis|DA4|DAIID Congenital abnormality|Musculoskeletal disease ARTHROGRYPOSIS, DISTAL, TYPE 5 OMIM:108145 DO:DOID:0111608 MESH:D001176 C05.550.150/108145|C05.651.102/108145|C05.660.077/108145|C16.131.621.077/108145 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 ARTHROGRYPOSIS, DISTAL, TYPE IIB|ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES|DA5|DAIIB|OCULOMELIC AMYOPLASIA Congenital abnormality|Musculoskeletal disease ARTHROGRYPOSIS, DISTAL, TYPE 5D OMIM:615065 DO:DOID:0111594 MESH:D001176 C05.550.150/615065|C05.651.102/615065|C05.660.077/615065|C16.131.621.077/615065 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 DA5D Congenital abnormality|Musculoskeletal disease Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies MESH:C535385 MESH:D001176|MESH:D007018|MESH:D008607|MESH:D019465 C05.550.150/C535385|C05.651.102/C535385|C05.660.077/C535385|C05.660.207/C535385|C10.228.140.617.738.300/C535385|C10.597.606.360/C535385|C16.131.621.077/C535385|C16.131.621.207/C535385|C19.700.482/C535385|C23.888.592.604.646/C535385|F03.625.539/C535385 C05.550.150|C05.651.102|C05.660.077|C05.660.207|C10.228.140.617.738.300|C10.597.606.360|C16.131.621.077|C16.131.621.207|C19.700.482|C23.888.592.604.646|F03.625.539 Congenital abnormality|Endocrine system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH OMIM:617146 MESH:D001176|MESH:D020886 C05.550.150/617146|C05.651.102/617146|C05.660.077/617146|C10.597.751.791/617146|C16.131.621.077/617146|C23.888.592.763.770/617146 C05.550.150|C05.651.102|C05.660.077|C10.597.751.791|C16.131.621.077|C23.888.592.763.770 DAIPT Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies MESH:C565940 MESH:D001176|MESH:D008607|MESH:D019066 C05.550.150/C565940|C05.651.102/C565940|C05.660.077/C565940|C10.597.606.360/C565940|C16.131.621.077/C565940|C23.550.291.812/C565940|C23.888.592.604.646/C565940|F03.625.539/C565940 C05.550.150|C05.651.102|C05.660.077|C10.597.606.360|C16.131.621.077|C23.550.291.812|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Arthrogryposis epileptic seizures migrational brain disorder MESH:C537442 MESH:D000015|MESH:D001176|MESH:D004827 C05.550.150/C537442|C05.651.102/C537442|C05.660.077/C537442|C10.228.140.490/C537442|C16.131.077/C537442|C16.131.621.077/C537442 C05.550.150|C05.651.102|C05.660.077|C10.228.140.490|C16.131.077|C16.131.621.077 Arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder Congenital abnormality|Musculoskeletal disease|Nervous system disease ARTHROGRYPOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES OMIM:615553 MESH:D001176|MESH:D008607|MESH:D012640 C05.550.150/615553|C05.651.102/615553|C05.660.077/615553|C10.597.606.360/615553|C10.597.742/615553|C16.131.621.077/615553|C23.888.592.604.646/615553|C23.888.592.742/615553|F03.625.539/615553 C05.550.150|C05.651.102|C05.660.077|C10.597.606.360|C10.597.742|C16.131.621.077|C23.888.592.604.646|C23.888.592.742|F03.625.539 AMRS|ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Arthrogryposis-like hand anomaly and sensorineural deafness MESH:C535386 DO:DOID:0111609 MESH:D001176|MESH:D006319|MESH:D019465 C05.550.150/C535386|C05.651.102/C535386|C05.660.077/C535386|C05.660.207/C535386|C09.218.458.341.887/C535386|C10.597.751.418.341.887/C535386|C16.131.621.077/C535386|C16.131.621.207/C535386|C23.888.592.763.393.341.887/C535386 C05.550.150|C05.651.102|C05.660.077|C05.660.207|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.621.077|C16.131.621.207|C23.888.592.763.393.341.887 Arthrogryposis, distal, type 6|Familial hand abnormality and sensori-neural deafness Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT OMIM:617468 DO:DOID:0080978 MESH:C536614 C05.550.150/C536614/617468|C05.651.102/C536614/617468|C05.660.077/C536614/617468|C16.131.621.077/C536614/617468 C05.550.150/C536614|C05.651.102/C536614|C05.660.077/C536614|C16.131.621.077/C536614 AMC1|AMCNMY|ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT Congenital abnormality|Musculoskeletal disease Arthrogryposis multiplex congenita, distal type 1 MESH:C535378 DO:DOID:0111597 MESH:D001176 C05.550.150/C535378|C05.651.102/C535378|C05.660.077/C535378|C16.131.621.077/C535378 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 AMCD1|Arthrogryposis, distal, type 1|Arthrogryposis Multiplex Congenita, Distal, Type I|Distal arthrogryposis, type 1|Distal Arthrogryposis Type 1 Congenital abnormality|Musculoskeletal disease Arthrogryposis multiplex congenita, distal type 2 MESH:C535379 MESH:D001176 C05.550.150/C535379|C05.651.102/C535379|C05.660.077/C535379|C16.131.621.077/C535379 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Congenital contractures with major involvement of the hands and feet|Distal arthrogryposis, type 2 Congenital abnormality|Musculoskeletal disease Arthrogryposis multiplex congenita, distal, X-linked MESH:C535380 DO:DOID:0111827|OMIM:301830 MESH:D001176|MESH:D040181 C05.550.150/C535380|C05.651.102/C535380|C05.660.077/C535380|C16.131.621.077/C535380|C16.320.322/C535380 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077|C16.320.322 AMC, distal, X-linked|Amcx1|ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED|Arthrogryposis, X-Linked, Type I|Smax2|Spinal Muscular Atrophy, Infantile X-Linked|Spinal Muscular Atrophy, X-Linked 2|Spinal Muscular Atrophy, X-Linked Lethal Infantile|Xlsma Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Arthrogryposis multiplex congenita neurogenic type MESH:C536614 DO:DOID:0090124|OMIM:208100 MESH:D001176 C05.550.150/C536614|C05.651.102/C536614|C05.660.077/C536614|C16.131.621.077/C536614 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 AMC2|AMCN|AMC, neurogenic type|ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE|Arthrogryposis Multiplex Congenita, Neurogenic Type|Neurogenic type of AMC Congenital abnormality|Musculoskeletal disease Arthrogryposis multiplex congenita whistling face MESH:C538401 MESH:D001176|MESH:D019465 C05.550.150/C538401|C05.651.102/C538401|C05.660.077/C538401|C05.660.207/C538401|C16.131.621.077/C538401|C16.131.621.207/C538401 C05.550.150|C05.651.102|C05.660.077|C05.660.207|C16.131.621.077|C16.131.621.207 Arthrogryposis Multiplex Congenita With Whistling Face|Illium syndrome|Illum Syndrome|Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system Congenital abnormality|Musculoskeletal disease Arthrogryposis multiplex with deafness, inguinal hernias, and early death MESH:C535381 MESH:D001176|MESH:D003638|MESH:D006552 C05.550.150/C535381|C05.651.102/C535381|C05.660.077/C535381|C09.218.458.341.186/C535381|C10.597.751.418.341.186/C535381|C16.131.621.077/C535381|C23.300.707.374.875/C535381|C23.888.592.763.393.341.186/C535381 C05.550.150|C05.651.102|C05.660.077|C09.218.458.341.186|C10.597.751.418.341.186|C16.131.621.077|C23.300.707.374.875|C23.888.592.763.393.341.186 Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY OMIM:614262 MESH:D001176|MESH:D009886|MESH:D010020 C05.116.852/614262|C05.550.150/614262|C05.651.102/614262|C05.660.077/614262|C10.292.562.750/614262|C10.597.622.447/614262|C11.590.472/614262|C16.131.621.077/614262|C23.550.717.732/614262|C23.888.592.636.447/614262 C05.116.852|C05.550.150|C05.651.102|C05.660.077|C10.292.562.750|C10.597.622.447|C11.590.472|C16.131.621.077|C23.550.717.732|C23.888.592.636.447 APUG Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Arthrogryposis renal dysfunction cholestasis syndrome MESH:C535382 OMIM:208085|OMIM:613404 MESH:D001176|MESH:D002779|MESH:D051437 C05.550.150/C535382|C05.651.102/C535382|C05.660.077/C535382|C06.130.120.135/C535382|C12.050.351.968.419.780/C535382|C12.200.777.419.780/C535382|C12.950.419.780/C535382|C16.131.621.077/C535382 C05.550.150|C05.651.102|C05.660.077|C06.130.120.135|C12.050.351.968.419.780|C12.200.777.419.780|C12.950.419.780|C16.131.621.077 ARCS|ARCS1|ARCS2|ARC syndrome|Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis|Arthrogryposis, Renal Dysfunction, And Cholestasis|Arthrogryposis, renal dysfunction, and cholestasis 1|ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 Congenital abnormality|Digestive system disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Arthrogryposis, X-Linked, Type V MESH:C564574 MESH:D001176|MESH:D040181 C05.550.150/C564574|C05.651.102/C564574|C05.660.077/C564574|C16.131.621.077/C564574|C16.320.322/C564574 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077|C16.320.322 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Arthropathy, Erosive MESH:C565273 MESH:D003286|MESH:D012868|MESH:D019465 C05.550.323/C565273|C05.651.197/C565273|C05.660.207/C565273|C16.131.621.207/C565273|C16.131.831/C565273|C17.800.804/C565273 C05.550.323|C05.651.197|C05.660.207|C16.131.621.207|C16.131.831|C17.800.804 Congenital abnormality|Musculoskeletal disease|Skin disease Arthropathy, Neurogenic MESH:D001177 DO:DOID:14286 Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed) MESH:D007592 C05.550.186 C05.550 Arthropathies, Neurogenic|Charcot Joint|Charcot's Joint|Charcots Joint|Joint, Charcot's|Neurogenic Arthropathies|Neurogenic Arthropathy Musculoskeletal disease Arthropathy, progressive pseudorheumatoid, of childhood MESH:C535387 OMIM:208230 MESH:D007592 C05.550/C535387 C05.550 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD|PPAC|PPD|PPRD|Progressive pseudorheumatoid arthropathy of childhood|Progressive pseudorheumatoid dysplasia|SEDT-PA|Spondyloepiphyseal dysplasia tarda with progressive arthropathy Musculoskeletal disease Arthus Reaction MESH:D001183 DO:DOID:1556 A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis. MESH:D007105 C20.543.520.175 C20.543.520 Arthus Phenomenon|Phenomenon, Arthus|Reaction, Arthus Immune system disease Articulation Disorders MESH:D001184 DO:DOID:4186 Disorders of the quality of speech characterized by the substitution, omission, distortion, and addition of phonemes. MESH:D013064 C10.597.606.150.500.800.150|C23.888.592.604.150.500.800.150 C10.597.606.150.500.800|C23.888.592.604.150.500.800 Articulation Disorder|Articulation Disorder, Developmental|Articulation Disorders, Developmental|Articulation Disorder, Speech|Articulation Disorders, Speech|Articulations, Unintelligible|Articulation, Unintelligible|Developmental Articulation Disorder|Developmental Articulation Disorders|Disarticulation Disorder|Disarticulation Disorders|Disorder, Disarticulation|Disorders, Disarticulation|Impairment, Phonological|Impairment, Phonology|Impairments, Phonological|Impairments, Phonology|Misarticulation|Phonological Impairment|Phonological Impairments|Phonology Impairment|Phonology Impairments|Speech Articulation Disorder|Speech Articulation Disorders|Unintelligible Articulation|Unintelligible Articulations Nervous system disease|Signs and symptoms Artificial Lens Implant Migration MESH:D060437 The shifting and or tilting of implanted artificial lens resulting in impaired vision. MESH:D005548|MESH:D007905 C11.510.174|C26.392.500.249 C11.510|C26.392.500 Artificial Intra ocular Implant Dislocation|Artificial Intra-ocular Implant Dislocation|Artificial Lens Implant Dislocation Eye disease|Wounds and injuries Arts syndrome MESH:C535388 DO:DOID:0050647|OMIM:301835 MESH:D001259|MESH:D040181|MESH:D054062 C09.218.458.341.186.500/C535388|C10.597.350.090/C535388|C10.597.751.418.341.186.500/C535388|C10.597.751.941.162.625/C535388|C11.966.075.375/C535388|C16.131.077.299/C535388|C16.320.322/C535388|C23.888.592.350.090/C535388|C23.888.592.763.393.341.186.500/C535388|C23.888.592.763.941.162.625/C535388 C09.218.458.341.186.500|C10.597.350.090|C10.597.751.418.341.186.500|C10.597.751.941.162.625|C11.966.075.375|C16.131.077.299|C16.320.322|C23.888.592.350.090|C23.888.592.763.393.341.186.500|C23.888.592.763.941.162.625 ARTS|Ataxia-Deafness-Optic Atrophy, Lethal|Ataxia, Fatal X-Linked, with Deafness and Loss of Vision|MENTAL RETARDATION, X-LINKED, SYNDROMIC 18|MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE|MRXS18|MRXSARTS|X-linked fatal ataxia with deafness and loss of vision Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Aryl Hydrocarbon Hydroxylase Inducibility MESH:C566250 MESH:D008661 C16.320.565/C566250|C18.452.648/C566250 C16.320.565|C18.452.648 AHH Inducibility Genetic disease (inborn)|Metabolic disease Asbestosis MESH:D001195 DO:DOID:10320 A form of pneumoconiosis caused by inhalation of asbestos fibers which elicit potent inflammatory responses in the parenchyma of the lung. The disease is characterized by interstitial fibrosis of the lung, varying from scattered sites to extensive scarring of the alveolar interstitium. MESH:D011009 C08.381.483.581.125|C08.381.520.702.125|C24.800.127 C08.381.483.581|C08.381.520.702|C24.800 Asbestoses|Idiopathic Interstitial Pneumonitis - from Asbestos Exposure|Pulmonary Fibrosis - from Asbestos Exposure Occupational disease|Respiratory tract disease Ascariasis MESH:D001196 DO:DOID:456 Infection by nematodes of the genus ASCARIS. Ingestion of infective eggs causes diarrhea and pneumonitis. Its distribution is more prevalent in areas of poor sanitation and where human feces are used for fertilizer. MESH:D017191 C01.610.335.508.700.100.070 C01.610.335.508.700.100 Ascariases|Ascaris Infection|Ascaris Infections|Infection, Ascaris|Infections, Ascaris Parasitic disease Ascaridiasis MESH:D001198 DO:DOID:3108 Infection with nematodes of the genus ASCARIDIA. This condition usually occurs in fowl, often manifesting diarrhea. MESH:D017191 C01.610.335.508.700.100.080 C01.610.335.508.700.100 Ascaridiases Parasitic disease Ascaridida Infections MESH:D017191 Infections with nematodes of the order ASCARIDIDA. MESH:D017190 C01.610.335.508.700.100 C01.610.335.508.700 Ascaridida Infection|Baylisascaris Infection|Baylisascaris Infections|Baylisascaris procyonis Infection|Baylisascaris procyonis Infections|Encephalitis, Raccoon Roundworm|Infection, Ascaridida|Infection, Baylisascaris|Infection, Baylisascaris procyonis|Infection, Raccoon Roundworm|Infections, Ascaridida|Infections, Baylisascaris|Infections, Baylisascaris procyonis|Raccoon Roundworm Encephalitides|Raccoon Roundworm Encephalitis|Raccoon Roundworm Infection|Raccoon Roundworm Infections|Roundworm Encephalitides, Raccoon|Roundworm Encephalitis, Raccoon|Roundworm Infection, Raccoon|Roundworm Infections, Raccoon Parasitic disease Ascending aortic aneurysm, hypertelorism, bifid uvula, cleft palate, and arterial tortuosity MESH:C531732 MESH:D055947 C05.660.207.532/C531732|C14.907.055.239.587/C531732|C14.907.109.139.587/C531732|C16.131.077.537/C531732|C16.320.510/C531732 C05.660.207.532|C14.907.055.239.587|C14.907.109.139.587|C16.131.077.537|C16.320.510 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Ascites MESH:D001201 Accumulation or retention of free fluid within the peritoneal cavity. MESH:D010335 C23.550.081 C23.550 Pathology (process) Ascorbic Acid Deficiency MESH:D001206 A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177) MESH:D001361 C18.654.521.500.133.115 C18.654.521.500.133 Ascorbic Acid Deficiencies|Deficiencies, Ascorbic Acid|Deficiencies, Vitamin C|Deficiency, Ascorbic Acid|Deficiency, Vitamin C|Vitamin C Deficiencies|Vitamin C Deficiency Nutrition disorder Askin Tumor MESH:C563168 DO:DOID:3369 MESH:D001859|MESH:D012512 C04.557.450.565.575.650.800/C563168|C04.557.450.795.620.800/C563168|C04.588.149/C563168|C05.116.231/C563168 C04.557.450.565.575.650.800|C04.557.450.795.620.800|C04.588.149|C05.116.231 Cancer|Musculoskeletal disease ASPARAGINE SYNTHETASE DEFICIENCY OMIM:615574 MESH:D008831|MESH:D011596|MESH:D020739 C05.660.207.620/615574|C10.228.140.163.100/615574|C10.500.507.400.500/615574|C10.597.606.881/615574|C16.131.621.207.620/615574|C16.131.666.507.400.500/615574|C16.320.565.189/615574|C18.452.132.100/615574|C18.452.648.189/615574|C23.888.592.604.882/615574 C05.660.207.620|C10.228.140.163.100|C10.500.507.400.500|C10.597.606.881|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.565.189|C18.452.132.100|C18.452.648.189|C23.888.592.604.882 ASNSD|ASNS DEFICIENCY Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Aspartylglucosamidase (AGA) deficiency MESH:C538402 MESH:D054880 C16.320.565.595.100/C538402|C18.452.648.595.100/C538402 C16.320.565.595.100|C18.452.648.595.100 Aspartylglucosaminidase Deficiency|Glycosylasparaginase deficiency Genetic disease (inborn)|Metabolic disease Aspartylglucosaminuria MESH:D054880 DO:DOID:0050461|OMIM:208400 A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES. MESH:D016464 C16.320.565.595.100|C18.452.648.595.100 C16.320.565.595|C18.452.648.595 AGA Deficiencies|AGA Deficiency|AGU|Aspartylglucosamidase Deficiencies|Aspartylglucosamidase Deficiency|ASPARTYLGLUCOSAMINIDASE DEFICIENCY|Aspartylglucosaminurias|Aspartylglycosaminuria|Aspartylglycosaminurias|Deficiencies, AGA|Deficiencies, Aspartylglucosamidase|Deficiencies, Glycoasparaginase|Deficiency, AGA|Deficiency, Aspartylglucosamidase|Deficiency, Glycoasparaginase|GLYCOASPARAGINASE|Glycoasparaginase Deficiencies|Glycoasparaginase Deficiency|GLYCOSYLASPARAGINASE DEFICIENCY Genetic disease (inborn)|Metabolic disease Asperger Syndrome MESH:D020817 DO:DOID:0050432|OMIM:608631|OMIM:608638|OMIM:608781|OMIM:609954 A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5) MESH:D000067877 F03.625.164.113.250 F03.625.164.113 Asperger Disease|Asperger Diseases|Asperger Disorder|Asperger Disorders|Asperger's Disease|Aspergers Disease|Asperger's Diseases|Asperger's Disorder|Aspergers Disorder|Asperger's Syndrome|Aspergers Syndrome|ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1|ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2|ASPERGER SYNDROME, SUSCEPTIBILITY TO, 3|ASPERGER SYNDROME, SUSCEPTIBILITY TO, 4|ASPG1|ASPG2|ASPG3|ASPG4|Disease, Asperger|Disease, Asperger's|Diseases, Asperger|Diseases, Asperger's|Disorder, Asperger|Disorder, Asperger's|Disorders, Asperger|Syndrome, Asperger|Syndrome, Asperger's Mental disorder Aspergillosis MESH:D001228 DO:DOID:13564|OMIM:614079 Infections with fungi of the genus ASPERGILLUS. MESH:D009181 C01.150.703.080 C01.150.703 Aspergilloses|ASPERGILLOSIS, SUSCEPTIBILITY TO|Aspergillus Infection|Aspergillus Infections|Infection, Aspergillus|Infections, Aspergillus Bacterial infection or mycosis Aspergillosis, Allergic Bronchopulmonary MESH:D001229 DO:DOID:13166 Hypersensitivity reaction (ALLERGIC REACTION) to fungus ASPERGILLUS in an individual with long-standing BRONCHIAL ASTHMA. It is characterized by pulmonary infiltrates, EOSINOPHILIA, elevated serum IMMUNOGLOBULIN E, and skin reactivity to Aspergillus antigen. MESH:D008172|MESH:D012130|MESH:D055732 C01.150.703.080.768.500|C01.150.703.534.850.500|C01.748.435.090|C08.381.472.850.500|C08.674.060|C08.730.435.090|C20.543.480.680.085 C01.150.703.080.768|C01.150.703.534.850|C01.748.435|C08.381.472.850|C08.674|C08.730.435|C20.543.480.680 Allergic Aspergilloses, Bronchopulmonary|Allergic Aspergillosis, Bronchopulmonary|Allergic Bronchopulmonary Aspergilloses|Allergic Bronchopulmonary Aspergillosis|Aspergilloses, Allergic Bronchopulmonary|Aspergilloses, Bronchopulmonary Allergic|Aspergillosis, Bronchopulmonary Allergic|Bronchopulmonary Allergic Aspergilloses|Bronchopulmonary Allergic Aspergillosis|Bronchopulmonary Aspergilloses, Allergic|Bronchopulmonary Aspergillosis, Allergic Bacterial infection or mycosis|Immune system disease|Respiratory tract disease Aspergillus meningitis MESH:C000656964 MESH:D001228|MESH:D016921 C01.150.703.080/C000656964|C01.150.703.181.500/C000656964|C01.207.198.500/C000656964|C10.228.228.198.500/C000656964|C10.586.625.300/C000656964 C01.150.703.080|C01.150.703.181.500|C01.207.198.500|C10.228.228.198.500|C10.586.625.300 Aspergillus fumigatus meningitis Bacterial infection or mycosis|Nervous system disease Aspergillus niger infection MESH:C535390 MESH:D001228|MESH:D008172 C01.150.703.080/C535390|C01.150.703.534/C535390|C01.748.435/C535390|C08.381.472/C535390|C08.730.435/C535390 C01.150.703.080|C01.150.703.534|C01.748.435|C08.381.472|C08.730.435 Aspergillus niger infection, pulmonary Bacterial infection or mycosis|Respiratory tract disease Aspermia MESH:D053714 A condition characterized by the complete absence of SEMEN. This disorder should be differentiated from AZOOSPERMIA, absence of sperm in the semen. MESH:D007248 C12.100.500.430.126|C12.100.750.700.126|C12.200.294.430.126 C12.100.500.430|C12.100.750.700|C12.200.294.430 Urogenital disease (male) Asphyxia MESH:D001237 A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life. MESH:D003643|MESH:D014947 C23.550.260.095|C26.103 C23.550.260|C26 Asphyxias|Suffocation|Suffocations Pathology (process)|Wounds and injuries Asphyxia Neonatorum MESH:D001238 DO:DOID:11088 Respiratory failure in the newborn. (Dorland, 27th ed) MESH:D007232 C16.614.092 C16.614 Infant-newborn disease Asphyxiating Thoracic Dystrophy 2 MESH:C566982 DO:DOID:0110086|OMIM:611263 MESH:D004613 C05.116.099.708.327/C566982|C16.131.077.350.398/C566982|C16.131.831.350.398/C566982|C16.320.850.250.398/C566982|C17.800.804.350.398/C566982|C17.800.827.250.398/C566982 C05.116.099.708.327|C16.131.077.350.398|C16.131.831.350.398|C16.320.850.250.398|C17.800.804.350.398|C17.800.827.250.398 ASPHYXIATING THORACIC DYSTROPHY 2|ATD2|SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY|SRTD2 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease ASPLENIA, ISOLATED CONGENITAL OMIM:271400 MESH:C563028 C16.320.798/C563028/271400|C20.673.795/C563028/271400 C16.320.798/C563028|C20.673.795/C563028 ASPLENIA, FAMILIAL|HYPOSPLENIA, ISOLATED CONGENITAL|ICAS|SPLENIC HYPOPLASIA Genetic disease (inborn)|Immune system disease Asrar Facharzt Haque syndrome MESH:C535391 MESH:D006685|MESH:D007818|MESH:D015618 C08.360.940.490/C535391|C08.360/C535391|C08.618.490/C535391|C09.400.940.490/C535391|C09.400/C535391|C10.597.975.550/C535391|C15.604.250.410.450/C535391|C23.888.592.979.550/C535391|C23.888.852.490/C535391 C08.360|C08.360.940.490|C08.618.490|C09.400|C09.400.940.490|C10.597.975.550|C15.604.250.410.450|C23.888.592.979.550|C23.888.852.490 Ear-nose-throat disease|Lymphatic disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Asthenia MESH:D001247 Clinical sign or symptom manifested as debility, or lack or loss of strength and energy. MESH:D012816 C23.888.089 C23.888 Signs and symptoms Asthenopia MESH:D001248 Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches. MESH:D005128 C11.093 C11 Eye Fatigue|Eyestrain|Fatigue, Eye|Fatigue, Visual|Visual Fatigue Eye disease Asthenozoospermia MESH:D053627 A condition in which the percentage of motile sperm is abnormally low. MESH:D007248 C12.100.500.430.253|C12.100.750.700.253|C12.200.294.430.253 C12.100.500.430|C12.100.750.700|C12.200.294.430 Asthenoteratozoospermia|Astheno Teratozoospermia|Asthenoteratozoospermias|Astheno Teratozoospermias|Teratozoospermia, Astheno|Teratozoospermias, Astheno Urogenital disease (male) Asthma MESH:D001249 DO:DOID:2841|OMIM:600807 A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL). MESH:D001982|MESH:D008173|MESH:D012130 C08.127.108|C08.381.495.108|C08.674.095|C20.543.480.680.095 C08.127|C08.381.495|C08.674|C20.543.480.680 Asthma, Bronchial|ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN, INCLUDED|ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO ASTHMA, PROTECTION AGAINST, INCLUDED|Asthmas|ASTHMA, SUSCEPTIBILITY TO|Bronchial Asthma Immune system disease|Respiratory tract disease Asthma and Nasal Polyps MESH:C565739 MESH:D001249|MESH:D009298 C08.127.108/C565739|C08.381.495.108/C565739|C08.460.572/C565739|C08.674.095/C565739|C09.603.557/C565739|C20.543.480.680.095/C565739|C23.300.825.557/C565739 C08.127.108|C08.381.495.108|C08.460.572|C08.674.095|C09.603.557|C20.543.480.680.095|C23.300.825.557 Ear-nose-throat disease|Immune system disease|Pathology (anatomical condition)|Respiratory tract disease Asthma, Aspirin-Induced MESH:D055963 Asthmatic adverse reaction (e.g., BRONCHOCONSTRICTION) to conventional NSAIDS including aspirin use. MESH:D001249|MESH:D004342|MESH:D006969 C08.127.108.054|C08.674.095.054|C20.543.480.149|C25.100.468.189 C08.127.108|C08.674.095|C20.543.480|C25.100.468 Aspirin Induced Asthma|Aspirin-Induced Asthma|Aspirin Induced Asthmas|Aspirin-Induced Asthmas|Aspirin Induced Asthma Syndrome|Aspirin-Induced Asthma Syndrome|Aspirin-Induced Asthma Syndromes|Asthma, Aspirin Induced|Asthma, NSAID induced|Asthma, NSAID-induced|Asthmas, Aspirin Induced|Asthmas, Aspirin-Induced|Asthmas, NSAID-induced|Asthma Syndrome, Aspirin-Induced|Asthma Syndromes, Aspirin-Induced|Induced Asthma, Aspirin|Induced Asthmas, Aspirin|NSAID-induced Asthma|NSAID-induced Asthmas|Syndrome, Aspirin-Induced Asthma|Syndromes, Aspirin-Induced Asthma Immune system disease|Respiratory tract disease Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome MESH:D000080445 Syndrome with clinical features of both ASTHMA and COPD. MESH:D001249|MESH:D006967|MESH:D029424 C08.127.108.688|C08.381.495.108.500|C08.381.495.389.250|C08.674.095.688|C20.543.103|C23.550.291.500.875.500 C08.127.108|C08.381.495.108|C08.381.495.389|C08.674.095|C20.543|C23.550.291.500.875 Asthma Chronic Obstructive Pulmonary Disease Overlap Syndrome|Asthma COPD Overlap Syndrome|Asthma-COPD Overlap Syndrome|Asthma-COPD Overlap Syndromes|Overlap Syndrome, Asthma-COPD Immune system disease|Pathology (process)|Respiratory tract disease Asthma, Exercise-Induced MESH:D001250 Asthma attacks following a period of exercise. Usually the induced attack is short-lived and regresses spontaneously. The magnitude of postexertional airway obstruction is strongly influenced by the environment in which exercise is performed (i.e. inhalation of cold air during physical exertion markedly augments the severity of the airway obstruction; conversely, warm humid air blunts or abolishes it). MESH:D000092202|MESH:D001249 C08.127.108.110|C08.674.095.110|C20.543.480.363.500|C20.543.480.680.095.110 C08.127.108|C08.674.095|C20.543.480.363|C20.543.480.680.095 Asthma, Exercise Induced|Bronchospasm, Exercise Induced|Bronchospasm, Exercise-Induced|Exercise Induced Asthma|Exercise-Induced Asthma|Exercise-Induced Asthmas|Exercise Induced Bronchospasm|Exercise-Induced Bronchospasm|Exercise-Induced Bronchospasms Immune system disease|Respiratory tract disease Asthma, Nasal Polyps, And Aspirin Intolerance MESH:C565935 DO:DOID:0111579|OMIM:208550 MESH:D009298|MESH:D055963 C08.127.108.054/C565935|C08.460.572/C565935|C08.674.095.054/C565935|C09.603.557/C565935|C20.543.480.149/C565935|C23.300.825.557/C565935|C25.100.468.189/C565935 C08.127.108.054|C08.460.572|C08.674.095.054|C09.603.557|C20.543.480.149|C23.300.825.557|C25.100.468.189 ASA Triad|ASA TRIAD ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO, INCLUDED|ASTHMA AND NASAL POLYPS, INCLUDED Ear-nose-throat disease|Immune system disease|Pathology (anatomical condition)|Respiratory tract disease Asthma, Occupational MESH:D059366 Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE. MESH:D001249|MESH:D009784 C08.127.108.495|C08.674.095.495|C20.543.480.680.095.495|C24.102 C08.127.108|C08.674.095|C20.543.480.680.095|C24 Asthmas, Occupational|Occupational Asthma|Occupational Asthmas Immune system disease|Occupational disease|Respiratory tract disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 OMIM:607277 MESH:D001249 C08.127.108/607277|C08.381.495.108/607277|C08.674.095/607277|C20.543.480.680.095/607277 C08.127.108|C08.381.495.108|C08.674.095|C20.543.480.680.095 AS1|ASRT1 Immune system disease|Respiratory tract disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 OMIM:608584 MESH:D001249 C08.127.108/608584|C08.381.495.108/608584|C08.674.095/608584|C20.543.480.680.095/608584 C08.127.108|C08.381.495.108|C08.674.095|C20.543.480.680.095 ASRT2 Immune system disease|Respiratory tract disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3 OMIM:609958 MESH:D001249 C08.127.108/609958|C08.381.495.108/609958|C08.674.095/609958|C20.543.480.680.095/609958 C08.127.108|C08.381.495.108|C08.674.095|C20.543.480.680.095 ASRT3 Immune system disease|Respiratory tract disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4 OMIM:610906 MESH:D001249 C08.127.108/610906|C08.381.495.108/610906|C08.674.095/610906|C20.543.480.680.095/610906 C08.127.108|C08.381.495.108|C08.674.095|C20.543.480.680.095 ASRT4|ASTHMA AND ALLERGIC RHINITIS, SUSCEPTIBILITY TO Immune system disease|Respiratory tract disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 OMIM:611064 MESH:D001249 C08.127.108/611064|C08.381.495.108/611064|C08.674.095/611064|C20.543.480.680.095/611064 C08.127.108|C08.381.495.108|C08.674.095|C20.543.480.680.095 ASRT5 Immune system disease|Respiratory tract disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6 OMIM:611403 MESH:D001249 C08.127.108/611403|C08.381.495.108/611403|C08.674.095/611403|C20.543.480.680.095/611403 C08.127.108|C08.381.495.108|C08.674.095|C20.543.480.680.095 ASRT6 Immune system disease|Respiratory tract disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7 OMIM:611960 MESH:D001249 C08.127.108/611960|C08.381.495.108/611960|C08.674.095/611960|C20.543.480.680.095/611960 C08.127.108|C08.381.495.108|C08.674.095|C20.543.480.680.095 ASRT7 Immune system disease|Respiratory tract disease ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8 OMIM:613207 MESH:D001249 C08.127.108/613207|C08.381.495.108/613207|C08.674.095/613207|C20.543.480.680.095/613207 C08.127.108|C08.381.495.108|C08.674.095|C20.543.480.680.095 ASRT8|RHINOCONJUNCTIVITIS, SUSCEPTIBILITY TO, INCLUDED Immune system disease|Respiratory tract disease Asthma, Short Stature, and Elevated IgA MESH:C565934 MESH:D001249 C08.127.108/C565934|C08.381.495.108/C565934|C08.674.095/C565934|C20.543.480.680.095/C565934 C08.127.108|C08.381.495.108|C08.674.095|C20.543.480.680.095 Immune system disease|Respiratory tract disease Astigmatism MESH:D001251 DO:DOID:11782 Unequal or irregular curvature of the CORNEA (Corneal astigmatism) and/or the EYE LENS (Lenticular astigmatism) resulting in REFRACTIVE ERROR. MESH:D012030 C11.744.212 C11.744 Astigmatism, Corneal|Astigmatism, Hyperopic|Astigmatism, Lenticular|Astigmatism, Mixed|Astigmatism, Myopic|Astigmatism, Oblique|Corneal Astigmatism|Hyperopic Astigmatism|Hyperopic Astigmatisms|Lenticular Astigmatism|Mixed Astigmatism|Mixed Astigmatisms|Myopic Astigmatism|Myopic Astigmatisms|Oblique Astigmatism|Oblique Astigmatisms Eye disease Astley-Kendall syndrome MESH:C535392 MESH:D002806|MESH:D004392|MESH:D010013 C05.116.099.343/C535392|C05.116.099.708.195/C535392|C05.116.099.708.685/C535392|C16.320.240/C535392|C16.320.737/C535392|C17.300.200.540/C535392|C19.297/C535392 C05.116.099.343|C05.116.099.708.195|C05.116.099.708.685|C16.320.240|C16.320.737|C17.300.200.540|C19.297 Astley-Kendall dysplasia|Short limbed dwarfism with extensive stippling Connective tissue disease|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Astrocytoma MESH:D001254 DO:DOID:3069|DO:DOID:3078|DO:DOID:4851|DO:DOID:5077|DO:DOID:6726|DO:DOID:6811|DO:DOID:7005|DO:DOID:7007|DO:DOID:7008 Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) MESH:D005910 C04.557.465.625.600.380.080|C04.557.470.670.380.080|C04.557.580.625.600.380.080 C04.557.465.625.600.380|C04.557.470.670.380|C04.557.580.625.600.380 Anaplastic Astrocytoma|Anaplastic Astrocytomas|Astrocytic Glioma|Astrocytic Gliomas|Astrocytoma, Anaplastic|Astrocytoma, Cerebral|Astrocytoma, Childhood Cerebral|Astrocytoma, Fibrillary|Astrocytoma, Gemistocytic|Astrocytoma, Grade I|Astrocytoma, Grade II|Astrocytoma, Grade III|Astrocytoma, Intracranial|Astrocytoma, Juvenile Pilocytic|Astrocytoma, Pilocytic|Astrocytoma, Protoplasmic|Astrocytomas|Astrocytomas, Grade III|Astrocytoma, Subependymal Giant Cell|Astroglioma|Astrogliomas|Cerebral Astrocytoma|Cerebral Astrocytoma, Childhood|Cerebral Astrocytomas|Childhood Cerebral Astrocytoma|Childhood Cerebral Astrocytomas|Fibrillary Astrocytoma|Fibrillary Astrocytomas|Gemistocytic Astrocytoma|Gemistocytic Astrocytomas|Glioma, Astrocytic|Gliomas, Astrocytic|Grade I Astrocytoma|Grade I Astrocytomas|Grade II Astrocytoma|Grade II Astrocytomas|Grade III Astrocytoma|Grade III Astrocytomas|Intracranial Astrocytoma|Intracranial Astrocytomas|Juvenile Pilocytic Astrocytoma|Juvenile Pilocytic Astrocytomas|Mixed Oligoastrocytoma|Mixed Oligoastrocytomas|Oligoastrocytoma, Mixed|Pilocytic Astrocytoma|Pilocytic Astrocytoma, Juvenile|Pilocytic Astrocytomas|Pleomorphic Xanthoastrocytoma|Pleomorphic Xanthoastrocytomas|Protoplasmic Astrocytoma|Protoplasmic Astrocytomas|Subependymal Giant Cell Astrocytoma|Xanthoastrocytoma, Pleomorphic Cancer Astroviridae Infections MESH:D019350 Infections with ASTROVIRIDAE, causing gastroenteritis in human infants, calves, lambs, and piglets. MESH:D012327 C01.925.782.105 C01.925.782 Astroviridae Infection|Infection, Astroviridae|Infections, Astroviridae Viral disease Asymmetric Short Stature Syndrome MESH:C566248 MESH:D004392|MESH:D005124|MESH:D019465 C05.116.099.343/C566248|C05.660.207/C566248|C11.250/C566248|C16.131.384/C566248|C16.131.621.207/C566248|C16.320.240/C566248|C19.297/C566248 C05.116.099.343|C05.660.207|C11.250|C16.131.384|C16.131.621.207|C16.320.240|C19.297 Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease Asymptomatic Diseases MESH:D058070 Diseases that do not exhibit symptoms. MESH:D020969 C23.550.291.187 C23.550.291 Asymptomatic Condition|Asymptomatic Conditions|Asymptomatic Disease|Asymptomatic State|Asymptomatic States|Condition, Asymptomatic|Disease, Asymptomatic|Disease, Presymptomatic|Disease, Pre-Symptomatic|Presymptomatic Disease|Pre-Symptomatic Disease|Presymptomatic Diseases|Pre-Symptomatic Diseases Pathology (process) Asymptomatic Infections MESH:D058345 Infections that do not exhibit symptoms. MESH:D007239|MESH:D058070 C01.125|C23.550.291.187.500 C01|C23.550.291.187 Asymptomatic Colonization|Asymptomatic Colonizations|Asymptomatic Infection|Colonization, Asymptomatic|Inapparent Infection|Inapparent Infections|Infection, Asymptomatic|Infection, Inapparent|Infection, Presymptomatic|Infection, Subclinical|Presymptomatic Infection|Presymptomatic Infections|Subclinical Infection|Subclinical Infections Pathology (process) Ataxia MESH:D001259 Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions. MESH:D020820 C10.597.350.090|C23.888.592.350.090 C10.597.350|C23.888.592.350 Appendicular Ataxia|Appendicular Ataxias|Ataxia, Appendicular|Ataxia, Limb|Ataxia, Motor|Ataxias|Ataxias, Appendicular|Ataxia, Sensory|Ataxias, Limb|Ataxias, Motor|Ataxias, Sensory|Ataxias, Truncal|Ataxia, Truncal|Ataxy|Coordination Impairment|Coordination Impairments|Coordination Lack|Dyscoordination|Dyssynergia|Impairment, Coordination|Impairments, Coordination|Incoordination|Incoordinations|Lack of Coordination|Limb Ataxia|Limb Ataxias|Motor Ataxia|Motor Ataxias|Rubral Tremor|Rubral Tremors|Sensory Ataxia|Sensory Ataxias|Tremor, Rubral|Tremors, Rubral|Truncal Ataxia|Truncal Ataxias Nervous system disease|Signs and symptoms Ataxia and Polyneuropathy, Adult-Onset MESH:C564020 MESH:D001259|MESH:D011115|MESH:D028361 C10.597.350.090/C564020|C10.668.829.800/C564020|C18.452.660/C564020|C23.888.592.350.090/C564020 C10.597.350.090|C10.668.829.800|C18.452.660|C23.888.592.350.090 Metabolic disease|Nervous system disease|Signs and symptoms ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS OMIM:616192 MESH:D002524|MESH:D003920|MESH:D034381 C09.218.458.341/616192|C10.228.140.252.190/616192|C10.597.350.090.500/616192|C10.597.751.418.341/616192|C18.452.394.750/616192|C19.246/616192|C23.888.592.350.090.200/616192|C23.888.592.763.393.341/616192 C09.218.458.341|C10.228.140.252.190|C10.597.350.090.500|C10.597.751.418.341|C18.452.394.750|C19.246|C23.888.592.350.090.200|C23.888.592.763.393.341 ACPHD Ear-nose-throat disease|Endocrine system disease|Metabolic disease|Nervous system disease|Signs and symptoms Ataxia, Deafness, and Cardiomyopathy MESH:C565932 MESH:D001259|MESH:D006319|MESH:D009202 C09.218.458.341.887/C565932|C10.597.350.090/C565932|C10.597.751.418.341.887/C565932|C14.280.238/C565932|C23.888.592.350.090/C565932|C23.888.592.763.393.341.887/C565932 C09.218.458.341.887|C10.597.350.090|C10.597.751.418.341.887|C14.280.238|C23.888.592.350.090|C23.888.592.763.393.341.887 Cardiovascular disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Ataxia-Microcephaly-Cataract Syndrome MESH:C563086 MESH:D001259|MESH:D002386|MESH:D008831|MESH:D015785 C05.660.207.620/C563086|C10.500.507.400.500/C563086|C10.597.350.090/C563086|C11.270/C563086|C11.510.245/C563086|C16.131.621.207.620/C563086|C16.131.666.507.400.500/C563086|C16.320.290/C563086|C23.888.592.350.090/C563086 C05.660.207.620|C10.500.507.400.500|C10.597.350.090|C11.270|C11.510.245|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.290|C23.888.592.350.090 AMC Syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Ataxia Neuropathy Spectrum MESH:C579922 MESH:D028361 C18.452.660/C579922 C18.452.660 MIRAS|Mitochondrial Recessive Ataxia Syndrome|SANDO|Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia Metabolic disease ATAXIA-OCULOMOTOR APRAXIA 3 OMIM:615217 DO:DOID:0060557 MESH:D001072|MESH:D001259|MESH:D015785 C10.597.350.090/615217|C10.597.606.881.350/615217|C11.270/615217|C16.320.290/615217|C23.888.592.350.090/615217|C23.888.592.604.882.350/615217 C10.597.350.090|C10.597.606.881.350|C11.270|C16.320.290|C23.888.592.350.090|C23.888.592.604.882.350 AOA3 Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms ATAXIA-OCULOMOTOR APRAXIA 4 OMIM:616267 MESH:D001072|MESH:D001259|MESH:D015785 C10.597.350.090/616267|C10.597.606.881.350/616267|C11.270/616267|C16.320.290/616267|C23.888.592.350.090/616267|C23.888.592.604.882.350/616267 C10.597.350.090|C10.597.606.881.350|C11.270|C16.320.290|C23.888.592.350.090|C23.888.592.604.882.350 AOA4 Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT OMIM:608984 DO:DOID:0111170 MESH:D001259 C10.597.350.090/608984|C23.888.592.350.090/608984 C10.597.350.090|C23.888.592.350.090 ADSA|SNAX1 Nervous system disease|Signs and symptoms Ataxia, Sensory, Autosomal Dominant MESH:C563818 MESH:D001259 C10.597.350.090/C563818|C23.888.592.350.090/C563818 C10.597.350.090|C23.888.592.350.090 Nervous system disease|Signs and symptoms Ataxia, Spastic, 1, Autosomal Dominant MESH:C566993 OMIM:108600 MESH:D002524|MESH:D015419 C10.228.140.252.190/C566993|C10.500.300.820/C566993|C10.574.500.495.820/C566993|C10.597.350.090.500/C566993|C10.668.829.800.300.820/C566993|C16.131.666.300.820/C566993|C16.320.400.375.820/C566993|C23.888.592.350.090.200/C566993 C10.228.140.252.190|C10.500.300.820|C10.574.500.495.820|C10.597.350.090.500|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.350.090.200 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT|SPAX1 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Ataxia, Spastic, 2, Autosomal Recessive MESH:C566969 OMIM:611302 MESH:D002524|MESH:D015419 C10.228.140.252.190/C566969|C10.500.300.820/C566969|C10.574.500.495.820/C566969|C10.597.350.090.500/C566969|C10.668.829.800.300.820/C566969|C16.131.666.300.820/C566969|C16.320.400.375.820/C566969|C23.888.592.350.090.200/C566969 C10.228.140.252.190|C10.500.300.820|C10.574.500.495.820|C10.597.350.090.500|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.350.090.200 SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE|SPAX2 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Ataxia, Spastic, 3, Autosomal Recessive MESH:C566956 OMIM:611390 MESH:D002524|MESH:D015419|MESH:D056784 C10.228.140.252.190/C566956|C10.228.140.695/C566956|C10.500.300.820/C566956|C10.574.500.495.820/C566956|C10.597.350.090.500/C566956|C10.668.829.800.300.820/C566956|C16.131.666.300.820/C566956|C16.320.400.375.820/C566956|C23.888.592.350.090.200/C566956 C10.228.140.252.190|C10.228.140.695|C10.500.300.820|C10.574.500.495.820|C10.597.350.090.500|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.350.090.200 ARSAL|Autosomal Recessive Spastic Ataxia With Leukoencephalopathy|SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE|SPAX3 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Ataxia, Spastic, with Congenital Miosis MESH:C566247 MESH:D001259|MESH:D009128|MESH:D015877 C05.651.512/C566247|C10.597.350.090/C566247|C10.597.613.550.550/C566247|C10.597.690.362/C566247|C11.710.528/C566247|C23.888.592.350.090/C566247|C23.888.592.608.550.550/C566247|C23.888.592.708.362/C566247 C05.651.512|C10.597.350.090|C10.597.613.550.550|C10.597.690.362|C11.710.528|C23.888.592.350.090|C23.888.592.608.550.550|C23.888.592.708.362 Miosis, Congenital, with Spastic Ataxia Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Ataxia Telangiectasia MESH:D001260 DO:DOID:12704|OMIM:208900 An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23). MESH:D000081207|MESH:D013684|MESH:D020752|MESH:D020754|MESH:D030342|MESH:D049914 C10.228.140.252.190.530.060|C10.562.100|C10.597.350.090.500.530.060|C14.907.823.213|C16.320.080|C16.320.798.250|C18.452.284.060|C20.673.795.250 C10.228.140.252.190.530|C10.562|C10.597.350.090.500.530|C14.907.823|C16.320|C16.320.798|C18.452.284|C20.673.795 AT|AT1|ATA, INCLUDED|Ataxia-Telangiectasia|Ataxia Telangiectasia Syndrome|ATAXIA-TELANGIECTASIA VARIANT, INCLUDED|ATC, INCLUDED|AT, COMPLEMENTATION GROUP C, INCLUDED|AT, COMPLEMENTATION GROUP D, INCLUDED|AT, COMPLEMENTATION GROUP E, INCLUDED|ATD, INCLUDED|ATE, INCLUDED|Louis Bar Syndrome|Louis-Bar Syndrome|LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A, INCLUDED|Syndrome, Ataxia Telangiectasia|Syndrome, Louis-Bar|Telangiectasia, Cerebello-Oculocutaneous Cardiovascular disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Nervous system disease Ataxia Telangiectasia Like Disorder MESH:C565779 OMIM:604391|OMIM:615919 MESH:D001260 C10.228.140.252.190.530.060/C565779|C10.562.100/C565779|C10.597.350.090.500.530.060/C565779|C14.907.823.213/C565779|C16.320.080/C565779|C16.320.798.250/C565779|C18.452.284.060/C565779|C20.673.795.250/C565779 C10.228.140.252.190.530.060|C10.562.100|C10.597.350.090.500.530.060|C14.907.823.213|C16.320.080|C16.320.798.250|C18.452.284.060|C20.673.795.250 ATAXIA-TELANGIECTASIA-LIKE DISORDER 1|ATAXIA-TELANGIECTASIA-LIKE DISORDER 2|ATLD|ATLD1|ATLD2 Cardiovascular disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Nervous system disease Ataxia-Telangiectasia Variant MESH:C566865 MESH:D001260 C10.228.140.252.190.530.060/C566865|C10.562.100/C566865|C10.597.350.090.500.530.060/C566865|C14.907.823.213/C566865|C16.320.080/C566865|C16.320.798.250/C566865|C18.452.284.060/C566865|C20.673.795.250/C566865 C10.228.140.252.190.530.060|C10.562.100|C10.597.350.090.500.530.060|C14.907.823.213|C16.320.080|C16.320.798.250|C18.452.284.060|C20.673.795.250 Cardiovascular disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Nervous system disease Ataxia-Telangiectasia Variant V2 MESH:C565380 MESH:D001260 C10.228.140.252.190.530.060/C565380|C10.562.100/C565380|C10.597.350.090.500.530.060/C565380|C14.907.823.213/C565380|C16.320.080/C565380|C16.320.798.250/C565380|C18.452.284.060/C565380|C20.673.795.250/C565380 C10.228.140.252.190.530.060|C10.562.100|C10.597.350.090.500.530.060|C14.907.823.213|C16.320.080|C16.320.798.250|C18.452.284.060|C20.673.795.250 Cardiovascular disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Nervous system disease Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death MESH:C565930 MESH:D001260|MESH:D017495 C10.228.140.252.190.530.060/C565930|C10.562.100/C565930|C10.597.350.090.500.530.060/C565930|C14.907.823.213/C565930|C16.320.080/C565930|C16.320.798.250/C565930|C17.800.621.430/C565930|C18.452.284.060/C565930|C20.673.795.250/C565930 C10.228.140.252.190.530.060|C10.562.100|C10.597.350.090.500.530.060|C14.907.823.213|C16.320.080|C16.320.798.250|C17.800.621.430|C18.452.284.060|C20.673.795.250 Cardiovascular disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Nervous system disease|Skin disease Ataxia with Fasciculations MESH:C566246 MESH:D001259|MESH:D005207 C10.597.350.090/C566246|C10.597.613.250/C566246|C23.888.592.350.090/C566246|C23.888.592.608.250/C566246 C10.597.350.090|C10.597.613.250|C23.888.592.350.090|C23.888.592.608.250 Nervous system disease|Signs and symptoms Ataxia with Myoclonic Epilepsy and Presenile Dementia MESH:C565933 MESH:D001259|MESH:D003704|MESH:D004831 C10.228.140.380/C565933|C10.228.140.490.375.130/C565933|C10.228.140.490.493.063/C565933|C10.597.350.090/C565933|C23.888.592.350.090/C565933|F03.615.400/C565933 C10.228.140.380|C10.228.140.490.375.130|C10.228.140.490.493.063|C10.597.350.090|C23.888.592.350.090|F03.615.400 Mental disorder|Nervous system disease|Signs and symptoms Ataxia with vitamin E deficiency MESH:C535393 DO:DOID:0090028|OMIM:277460 MESH:D001259|MESH:D014811 C10.597.350.090/C535393|C18.654.521.500.133.841/C535393|C23.888.592.350.090/C535393 C10.597.350.090|C18.654.521.500.133.841|C23.888.592.350.090 Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency|Ataxia with isolated vitamin E deficiency|AVED|Familial isolated deficiency of vitamin E|Familial Isolated Vitamin E Deficiency|Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency|Friedreich-Like Ataxia|Friedreich-like ataxia with selective vitamin E deficiency|VED|VITAMIN E DEFICIENCY, FAMILIAL ISOLATED|Vitamin E, Familial Isolated Deficiency of Nervous system disease|Nutrition disorder|Signs and symptoms Atelosteogenesis, type 1 MESH:C535396 OMIM:108720 MESH:D010009 C05.116.099.708/C535396|C16.320.728/C535396 C05.116.099.708|C16.320.728 AO1|AOI|Atelosteogenesis Type 1|Atelosteogenesis Type I|Atelosteogenesis, Type I|Giant cell chondrodysplasia|Spondylohumerofemoral hypoplasia Genetic disease (inborn)|Musculoskeletal disease Atelosteogenesis type 2 MESH:C535395 OMIM:256050 MESH:D010009 C05.116.099.708/C535395|C16.320.728/C535395 C05.116.099.708|C16.320.728 AO2|AOII|Atelosteogenesis De La Chapelle Type|Atelosteogenesis, Type 2|Atelosteogenesis, Type II|De La Chapelle Dysplasia|DLCD, INCLUDED|McAlister Dysplasia|Neonatal osseous dysplasia 1|Neonatal Osseous Dysplasia I|NEONATAL OSSEOUS DYSPLASIA I DE LA CHAPELLE DYSPLASIA, INCLUDED Genetic disease (inborn)|Musculoskeletal disease Atelosteogenesis Type 3 MESH:C579928 MESH:D010009 C05.116.099.708/C579928|C16.320.728/C579928 C05.116.099.708|C16.320.728 Aoiii|Atelosteogenesis Type Iii Genetic disease (inborn)|Musculoskeletal disease ATELOSTEOGENESIS, TYPE III OMIM:108721 DO:DOID:0050648 MESH:D004392|MESH:D010009|MESH:D017880 C05.116.099.343/108721|C05.116.099.708/108721|C05.660.585/108721|C16.131.621.585/108721|C16.320.240/108721|C16.320.728/108721|C19.297/108721 C05.116.099.343|C05.116.099.708|C05.660.585|C16.131.621.585|C16.320.240|C16.320.728|C19.297 AO3|AOIII Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Athabaskan brainstem dysgenesis MESH:C535397 OMIM:601536 MESH:D006319|MESH:D009421|MESH:D015835 C09.218.458.341.887/C535397|C10.228.758/C535397|C10.292.562/C535397|C10.500/C535397|C10.597.751.418.341.887/C535397|C11.590/C535397|C16.131.666/C535397|C23.888.592.763.393.341.887/C535397 C09.218.458.341.887|C10.228.758|C10.292.562|C10.500|C10.597.751.418.341.887|C11.590|C16.131.666|C23.888.592.763.393.341.887 ABDS|Athabaskan Brainstem Dysgenesis Syndrome|Bosley-Salih-Alorainy Syndrome|BSAS, INCLUDED|Navajo brainstem syndrome|NAVAJO BRAINSTEM SYNDROME BOSLEY-SALIH-ALORAINY SYNDROME, INCLUDED Congenital abnormality|Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms Athabaskan severe combined immunodeficiency MESH:C536786 MESH:D016511 C16.320.798.750/C536786|C16.614.815/C536786|C18.452.284.800/C536786|C20.673.795.750/C536786 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Atherosclerosis MESH:D050197 DO:DOID:1936|DO:DOID:2348|OMIM:108725 A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. MESH:D001161 C14.907.137.126.307 C14.907.137.126 ALP|Atherogeneses|Atherogenesis|ATHEROGENIC LIPOPROTEIN PHENOTYPE|Atheroscleroses|ATHEROSCLEROSIS SUSCEPTIBILITY|ATHS Cardiovascular disease Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease MESH:C565928 MESH:D003920|MESH:D006319|MESH:D007674|MESH:D020271|MESH:D020937|MESH:D050197 C09.218.458.341.887/C565928|C10.228.140.490.360.275/C565928|C10.574.500/C565928|C10.597.751.418.341.887/C565928|C12.050.351.968.419/C565928|C12.200.777.419/C565928|C12.950.419/C565928|C14.907.137.126.307/C565928|C16.320.400/C565928|C18.452.394.750/C565928|C19.246/C565928|C23.888.592.763.393.341.887/C565928 C09.218.458.341.887|C10.228.140.490.360.275|C10.574.500|C10.597.751.418.341.887|C12.050.351.968.419|C12.200.777.419|C12.950.419|C14.907.137.126.307|C16.320.400|C18.452.394.750|C19.246|C23.888.592.763.393.341.887 Cardiovascular disease|Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Athetosis MESH:D001264 A dyskinesia characterized by an inability to maintain the fingers, toes, tongue, or other body parts in a stable position, resulting in continuous slow, sinusoidal, and flowing involuntary movements. This condition is frequently accompanied by CHOREA, where it is referred to as choreoathetosis. Athetosis may occur as a manifestation of BASAL GANGLIA DISEASES or DRUG TOXICITY. (From Adams et al., Principles of Neurology, 6th ed, p76) MESH:D020820 C10.597.350.110|C23.888.592.350.110 C10.597.350|C23.888.592.350 Athetoid Movement|Athetoid Movements|Athetoses|Disease, Hammond|Disease, Hammond's|Diseases, Hammond|Diseases, Hammond's|Hammond Disease|Hammond Diseases|Hammond's Disease|Hammonds Disease|Hammond's Diseases|Movement, Athetoid|Movements, Athetoid Nervous system disease|Signs and symptoms Athletic Injuries MESH:D001265 Injuries incurred during participation in competitive or non-competitive sports. MESH:D014947 C26.115 C26 Athletic Injury|Injuries, Athletic|Injuries, Sports|Injury, Athletic|Injury, Sports|Sports Injuries|Sports Injury Wounds and injuries Athrombia, Essential MESH:C565927 MESH:D025861 C15.378.100.100/C565927|C16.320.099/C565927 C15.378.100.100|C16.320.099 Blood disease|Genetic disease (inborn) Atkin syndrome MESH:C538195 MESH:D038901 C10.597.606.360.455/C538195|C16.320.322.500/C538195|C16.320.400.525/C538195 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Atkin Flaitz Patil Smith syndrome|Atkin-Flaitz syndrome|Mental retardation, X-linked, 21|Mental Retardation, X-Linked 21|Mental retardation X-linked Atkin type|Mental retardation X-linked, Atkin type|Mental retardation, X-linked, nonspecific|Mental retardation, X-linked nonspecific, type 1|MRX21|X-linked mental retardation syndrome, Atkin type Genetic disease (inborn)|Nervous system disease Atlanto-Axial Fusion MESH:C538196 MESH:D000013 C16.131/C538196 C16.131 Atlantoaxial Fusion|Atlantoaxial joint fusion Congenital abnormality Atonic-Astatic Syndrome of Foerster MESH:C565926 MESH:D001259|MESH:D009123|MESH:D013064 C10.597.350.090/C565926|C10.597.606.150.500.800/C565926|C10.597.613.575/C565926|C23.888.592.350.090/C565926|C23.888.592.604.150.500.800/C565926|C23.888.592.608.575/C565926 C10.597.350.090|C10.597.606.150.500.800|C10.597.613.575|C23.888.592.350.090|C23.888.592.604.150.500.800|C23.888.592.608.575 Nervous system disease|Signs and symptoms Atresia of small intestine MESH:C538260 MESH:D007409 C06.198.719/C538260|C06.405.469.445/C538260|C16.131.314.466/C538260 C06.198.719|C06.405.469.445|C16.131.314.466 Congenital atresia of the small intestine|Small intestine atresia Congenital abnormality|Digestive system disease Atrial Fibrillation MESH:D001281 DO:DOID:0060224 Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation. MESH:D001145 C14.280.067.198|C23.550.073.198 C14.280.067|C23.550.073 Atrial Fibrillation, Familial|Atrial Fibrillation, Paroxysmal|Atrial Fibrillation, Persistent|Atrial Fibrillations|Atrial Fibrillations, Familial|Atrial Fibrillations, Paroxysmal|Atrial Fibrillations, Persistent|Auricular Fibrillation|Auricular Fibrillations|Familial Atrial Fibrillation|Familial Atrial Fibrillations|Fibrillation, Atrial|Fibrillation, Auricular|Fibrillation, Familial Atrial|Fibrillation, Paroxysmal Atrial|Fibrillation, Persistent Atrial|Fibrillations, Atrial|Fibrillations, Auricular|Fibrillations, Familial Atrial|Fibrillations, Paroxysmal Atrial|Fibrillations, Persistent Atrial|Paroxysmal Atrial Fibrillation|Paroxysmal Atrial Fibrillations|Persistent Atrial Fibrillation|Persistent Atrial Fibrillations Cardiovascular disease|Pathology (process) Atrial fibrillation, familial 1 MESH:C538261 OMIM:608583 MESH:D001281 C14.280.067.198/C538261|C23.550.073.198/C538261 C14.280.067.198|C23.550.073.198 Atfb1|Atrial fibrillation, autosomal dominant|Atrial Fibrillation, Familial, 1|Autosomal dominant atrial fibrillation Cardiovascular disease|Pathology (process) ATRIAL FIBRILLATION, FAMILIAL, 10 OMIM:614022 DO:DOID:0050650 MESH:D001281 C14.280.067.198/614022|C23.550.073.198/614022 C14.280.067.198|C23.550.073.198 ATFB10 Cardiovascular disease|Pathology (process) ATRIAL FIBRILLATION, FAMILIAL, 11 OMIM:614049 DO:DOID:0050650 MESH:D001281 C14.280.067.198/614049|C23.550.073.198/614049 C14.280.067.198|C23.550.073.198 ATFB11 Cardiovascular disease|Pathology (process) ATRIAL FIBRILLATION, FAMILIAL, 12 OMIM:614050 DO:DOID:0050650 MESH:D001281 C14.280.067.198/614050|C23.550.073.198/614050 C14.280.067.198|C23.550.073.198 ATFB12 Cardiovascular disease|Pathology (process) ATRIAL FIBRILLATION, FAMILIAL, 13 OMIM:615377 DO:DOID:0050650 MESH:D001281 C14.280.067.198/615377|C23.550.073.198/615377 C14.280.067.198|C23.550.073.198 ATFB13 Cardiovascular disease|Pathology (process) ATRIAL FIBRILLATION, FAMILIAL, 14 OMIM:615378 DO:DOID:0050650 MESH:D001281 C14.280.067.198/615378|C23.550.073.198/615378 C14.280.067.198|C23.550.073.198 ATFB14 Cardiovascular disease|Pathology (process) ATRIAL FIBRILLATION, FAMILIAL, 15 OMIM:615770 DO:DOID:0050650 MESH:D001281 C14.280.067.198/615770|C23.550.073.198/615770 C14.280.067.198|C23.550.073.198 ATFB15 Cardiovascular disease|Pathology (process) ATRIAL FIBRILLATION, FAMILIAL, 18 OMIM:617280 MESH:D001281 C14.280.067.198/617280|C23.550.073.198/617280 C14.280.067.198|C23.550.073.198 ATFB18 Cardiovascular disease|Pathology (process) Atrial Fibrillation, Familial, 2 MESH:C563903 OMIM:608988 MESH:D001281 C14.280.067.198/C563903|C23.550.073.198/C563903 C14.280.067.198|C23.550.073.198 ATFB2 Cardiovascular disease|Pathology (process) Atrial Fibrillation, Familial, 3 MESH:C563817 OMIM:607554 MESH:D001281 C14.280.067.198/C563817|C23.550.073.198/C563817 C14.280.067.198|C23.550.073.198 ATFB3 Cardiovascular disease|Pathology (process) Atrial Fibrillation, Familial, 4 MESH:C566244 OMIM:611493 MESH:D001281 C14.280.067.198/C566244|C23.550.073.198/C566244 C14.280.067.198|C23.550.073.198 ATFB4 Cardiovascular disease|Pathology (process) Atrial Fibrillation, Familial, 5 MESH:C566932 OMIM:611494 MESH:D001281 C14.280.067.198/C566932|C23.550.073.198/C566932 C14.280.067.198|C23.550.073.198 ATFB5 Cardiovascular disease|Pathology (process) Atrial Fibrillation, Familial, 6 MESH:C567400 OMIM:612201 MESH:D001281 C14.280.067.198/C567400|C23.550.073.198/C567400 C14.280.067.198|C23.550.073.198 ATFB6 Cardiovascular disease|Pathology (process) Atrial Fibrillation, Familial, 7 MESH:C567389 OMIM:612240 MESH:D001281 C14.280.067.198/C567389|C23.550.073.198/C567389 C14.280.067.198|C23.550.073.198 ATFB7 Cardiovascular disease|Pathology (process) Atrial Fibrillation, Familial, 8 MESH:C567802 OMIM:613055 MESH:D001281 C14.280.067.198/C567802|C23.550.073.198/C567802 C14.280.067.198|C23.550.073.198 ATFB8 Cardiovascular disease|Pathology (process) ATRIAL FIBRILLATION, FAMILIAL, 9 OMIM:613980 DO:DOID:0050650 MESH:D001281 C14.280.067.198/613980|C23.550.073.198/613980 C14.280.067.198|C23.550.073.198 ATFB9 Cardiovascular disease|Pathology (process) Atrial Flutter MESH:D001282 Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES). MESH:D001145 C14.280.067.248|C23.550.073.248 C14.280.067|C23.550.073 Atrial Flutters|Auricular Flutter|Auricular Flutters|Flutter, Atrial|Flutter, Auricular|Flutters, Atrial|Flutters, Auricular Cardiovascular disease|Pathology (process) Atrial myxoma, familial MESH:C538262 OMIM:255960 MESH:D006338|MESH:D009232 C04.557.450.565.550/C538262|C04.588.894.309/C538262|C14.280.459/C538262 C04.557.450.565.550|C04.588.894.309|C14.280.459 ATRIAL MYXOMA, FAMILIAL|Intracardiac myxoma|Myxoma, Intracardiac Cancer|Cardiovascular disease Atrial Premature Complexes MESH:D018880 A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. The ectopic signals may or may not conduct to the HEART VENTRICLES. Atrial premature complexes are characterized by premature P waves on ECG which are different in configuration from the P waves generated by the normal pacemaker complex in the SINOATRIAL NODE. MESH:D005117 C14.280.067.325.250|C14.280.123.375.250|C23.550.073.325.050 C14.280.067.325|C14.280.123.375|C23.550.073.325 Atrial Beat, Premature|Atrial Beats, Premature|Atrial Complex, Premature|Atrial Complices, Premature|Atrial Contraction, Premature|Atrial Contractions, Premature|Atrial Ectopic Beat|Atrial Ectopic Beats|Atrial Extrasystole|Atrial Extrasystoles|Atrial Premature Complex|Atrial Premature Complices|Ectopic Beat, Atrial|Ectopic Beats, Atrial|Extrasystole, Atrial|Extrasystoles, Atrial|Premature Atrial Beat|Premature Atrial Beats|Premature Atrial Complex|Premature Atrial Complices|Premature Atrial Contraction|Premature Atrial Contractions|Premature Complex, Atrial|Premature Complexes, Atrial|Premature Complices, Atrial|Premature Supraventricular Beat|Premature Supraventricular Beats|Supraventricular Beat, Premature|Supraventricular Beats, Premature Cardiovascular disease|Pathology (process) Atrial Remodeling MESH:D064752 Long-term changes in the electrophysiological parameters and/or anatomical structures of the HEART ATRIA that result from prolonged changes in atrial rate, often associated with ATRIAL FIBRILLATION or long periods of intense EXERCISE. MESH:D010335|MESH:D020763 C23.300.052|C23.550.113 C23.300|C23.550 Atrium Remodeling|Cardiac Remodeling, Atrial|Electrical Remodeling|Myocardial Remodeling, Atrial|Remodeling, Atrial|Remodeling, Atrial Cardiac|Remodeling, Atrial Myocardial|Remodeling, Atrium|Remodeling, Electrical Pathology (anatomical condition)|Pathology (process) Atrial Septal Defect 1 MESH:C566239 OMIM:108800 MESH:D006344 C14.240.400.560.375/C566239|C14.280.400.560.375/C566239|C16.131.240.400.560.375/C566239 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 ASD1|ASD ATRIAL SEPTAL DEFECT, PRIMUM TYPE, INCLUDED|ASD II, INCLUDED|ASD I, INCLUDED|ATRIAL SEPTAL DEFECT, SECUNDUM TYPE, INCLUDED Cardiovascular disease|Congenital abnormality Atrial septal defect 2 MESH:C538263 OMIM:607941 MESH:D006344 C14.240.400.560.375/C538263|C14.280.400.560.375/C538263|C16.131.240.400.560.375/C538263 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 ASD2 Cardiovascular disease|Congenital abnormality Atrial Septal Defect 3 MESH:C563540 OMIM:614089 MESH:D006344 C14.240.400.560.375/C563540|C14.280.400.560.375/C563540|C16.131.240.400.560.375/C563540 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 ASD3 Cardiovascular disease|Congenital abnormality Atrial Septal Defect 4 MESH:C566963 OMIM:611363 MESH:D006344 C14.240.400.560.375/C566963|C14.280.400.560.375/C566963|C16.131.240.400.560.375/C566963 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 ASD4 Cardiovascular disease|Congenital abnormality Atrial Septal Defect 5 MESH:C567561 OMIM:612794 MESH:D006344 C14.240.400.560.375/C567561|C14.280.400.560.375/C567561|C16.131.240.400.560.375/C567561 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 ASD5 Cardiovascular disease|Congenital abnormality Atrial Septal Defect 6 MESH:C567764 OMIM:613087 MESH:D006344 C14.240.400.560.375/C567764|C14.280.400.560.375/C567764|C16.131.240.400.560.375/C567764 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 ASD6 Cardiovascular disease|Congenital abnormality ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS OMIM:108900 DO:DOID:0110112 MESH:C566238|MESH:D054537 C14.240.400.560.375/C566238/108900|C14.280.067.558.230/108900|C14.280.067.558/C566238/108900|C14.280.123.500.230/108900|C14.280.123.500/C566238/108900|C14.280.400.560.375/C566238/108900|C16.131.240.400.560.375/C566238/108900|C23.550.073.425.062/108900|C23.550.073.425/C566238/108900 C14.240.400.560.375/C566238|C14.280.067.558.230|C14.280.067.558/C566238|C14.280.123.500.230|C14.280.123.500/C566238|C14.280.400.560.375/C566238|C16.131.240.400.560.375/C566238|C23.550.073.425.062|C23.550.073.425/C566238 ASD7|ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Cardiovascular disease|Congenital abnormality|Pathology (process) ATRIAL SEPTAL DEFECT 8 OMIM:614433 DO:DOID:0110113 MESH:D006344 C14.240.400.560.375/614433|C14.280.400.560.375/614433|C16.131.240.400.560.375/614433 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 ASD8 Cardiovascular disease|Congenital abnormality ATRIAL SEPTAL DEFECT 9 OMIM:614475 DO:DOID:0110114 MESH:D006344 C14.240.400.560.375/614475|C14.280.400.560.375/614475|C16.131.240.400.560.375/614475 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 ASD9 Cardiovascular disease|Congenital abnormality Atrial Septal Defect, Secundum Type MESH:C566241 MESH:D006344 C14.240.400.560.375/C566241|C14.280.400.560.375/C566241|C16.131.240.400.560.375/C566241 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 Cardiovascular disease|Congenital abnormality Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects MESH:C566351 MESH:D001145|MESH:D002971|MESH:D005660|MESH:D006344|MESH:D006972 C05.116.099.370.231.480/C566351|C05.116.099.386/C566351|C05.660.207.231.480/C566351|C05.660.386/C566351|C07.465.409.225/C566351|C07.465.525.164/C566351|C07.650.525.164/C566351|C14.240.400.560.375/C566351|C14.280.067/C566351|C14.280.400.560.375/C566351|C16.131.240.400.560.375/C566351|C16.131.621.207.231.480/C566351|C16.131.621.386/C566351|C16.131.850.525.164/C566351|C23.550.073/C566351 C05.116.099.370.231.480|C05.116.099.386|C05.660.207.231.480|C05.660.386|C07.465.409.225|C07.465.525.164|C07.650.525.164|C14.240.400.560.375|C14.280.067|C14.280.400.560.375|C16.131.240.400.560.375|C16.131.621.207.231.480|C16.131.621.386|C16.131.850.525.164|C23.550.073 Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process) Atrial Septal Defect Sinus Venosus MESH:C548009 MESH:D006344 C14.240.400.560.375/C548009|C14.280.400.560.375/C548009|C16.131.240.400.560.375/C548009 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 Cardiovascular disease|Congenital abnormality Atrial Septal Defect with Atrioventricular Conduction Defects MESH:C566238 MESH:D006327|MESH:D006344 C14.240.400.560.375/C566238|C14.280.067.558/C566238|C14.280.123.500/C566238|C14.280.400.560.375/C566238|C16.131.240.400.560.375/C566238|C23.550.073.425/C566238 C14.240.400.560.375|C14.280.067.558|C14.280.123.500|C14.280.400.560.375|C16.131.240.400.560.375|C23.550.073.425 ASD with Atrioventricular Conduction Defects Cardiovascular disease|Congenital abnormality|Pathology (process) Atrial Standstill MESH:C563984 OMIM:108770|OMIM:615745 MESH:D006327|MESH:D009202|MESH:D030342 C14.280.067.558/C563984|C14.280.123.500/C563984|C14.280.238/C563984|C16.320/C563984|C23.550.073.425/C563984 C14.280.067.558|C14.280.123.500|C14.280.238|C16.320|C23.550.073.425 Atrial Cardiomyopathy with Heart Block|ATRIAL DILATION AND STANDSTILL|ATRIAL STANDSTILL 1|ATRIAL STANDSTILL 2|ATRST1|ATRST2|CARDIOMYOPATHY, ATRIAL DILATED, WITH ATRIAL STANDSTILL|Cardiomyopathy, Familial, with Conduction Disturbance Cardiovascular disease|Genetic disease (inborn)|Pathology (process) Atrial Tachyarrhythmia with Short PR Interval MESH:C566237 MESH:D013610 C14.280.067.845/C566237|C14.280.123.875/C566237|C23.550.073.845/C566237 C14.280.067.845|C14.280.123.875|C23.550.073.845 Cardiovascular disease|Pathology (process) Atrichia with Papular Lesions MESH:C565924 DO:DOID:0060689|OMIM:209500 MESH:D000505|MESH:D012872 C17.800.329.937.122/C565924|C17.800.865/C565924|C23.300.035/C565924 C17.800.329.937.122|C17.800.865|C23.300.035 APL|Papular Atrichia Pathology (anatomical condition)|Skin disease Atrioventricular Block MESH:D054537 DO:DOID:0050820 Impaired impulse conduction from HEART ATRIA to HEART VENTRICLES. AV block can mean delayed or completely blocked impulse conduction. MESH:D006327 C14.280.067.558.230|C14.280.123.500.230|C23.550.073.425.062 C14.280.067.558|C14.280.123.500|C23.550.073.425 Atrioventricular Blocks|Atrioventricular Conduction Block|Atrioventricular Conduction Blocks|AV Block|AV Blocks|Block, AV|Blocks, AV|Conduction Block, Atrioventricular|Conduction Blocks, Atrioventricular Cardiovascular disease|Pathology (process) Atrioventricular Septal Defect MESH:C562831 OMIM:606215|OMIM:614430|OMIM:614474 MESH:D006343 C14.240.400.560/C562831|C14.280.400.560/C562831|C16.131.240.400.560/C562831 C14.240.400.560|C14.280.400.560|C16.131.240.400.560 Atrioventricular Canal Defect|ATRIOVENTRICULAR SEPTAL DEFECT 4|ATRIOVENTRICULAR SEPTAL DEFECT 5|AVCD|AVC Defect|AVSD|AVSD1, INCLUDED|AVSD4|AVSD5|ENDOCARDIAL CUSHION DEFECT;ECD ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1, INCLUDED Cardiovascular disease|Congenital abnormality Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome MESH:C565249 OMIM:606217 MESH:D006343|MESH:D059446 C14.240.400.560/C565249|C14.240.400.592/C565249|C14.280.400.560/C565249|C14.280.400.592/C565249|C15.604.744.146/C565249|C16.131.077.401/C565249|C16.131.240.400.560/C565249|C16.131.240.400.592/C565249 C14.240.400.560|C14.240.400.592|C14.280.400.560|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.560|C16.131.240.400.592 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2;AVSD2 ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME,|INCLUDED Cardiovascular disease|Congenital abnormality|Lymphatic disease Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects MESH:C563994 MESH:D006343|MESH:D014564|MESH:D016569 C11.250.090/C563994|C11.338.190/C563994|C12.050.351.875/C563994|C12.200.706/C563994|C12.800/C563994|C14.240.400.560/C563994|C14.280.400.560/C563994|C16.131.240.400.560/C563994|C16.131.384.190/C563994|C16.131.939/C563994 C11.250.090|C11.338.190|C12.050.351.875|C12.200.706|C12.800|C14.240.400.560|C14.280.400.560|C16.131.240.400.560|C16.131.384.190|C16.131.939 Cardiovascular disease|Congenital abnormality|Eye disease|Urogenital disease (female)|Urogenital disease (male) Atrophia Maculosa Varioliformis Cutis, Familial MESH:C563349 MESH:D012873 C16.320.850/C563349|C17.800.827/C563349 C16.320.850|C17.800.827 Varioliform Macular Atrophy of the Skin Genetic disease (inborn)|Skin disease Atrophic Vaginitis MESH:D059268 Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at MENOPAUSE. MESH:D014627 C12.050.351.500.894.906.316|C12.100.250.894.906.316 C12.050.351.500.894.906|C12.100.250.894.906 Atrophic Vaginitides|Vaginitides, Atrophic|Vaginitis, Atrophic Urogenital disease (female) Atrophy MESH:D001284 Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. MESH:D020763 C23.300.070 C23.300 Atrophies Pathology (anatomical condition) ATR-X syndrome MESH:C538258 OMIM:301040 MESH:D017085|MESH:D038901 C10.597.606.360.455/C538258|C15.378.071.141.150.875.100/C538258|C15.378.420.826.100/C538258|C16.320.070.875.100/C538258|C16.320.322.500/C538258|C16.320.365.826.100/C538258|C16.320.400.525/C538258 C10.597.606.360.455|C15.378.071.141.150.875.100|C15.378.420.826.100|C16.320.070.875.100|C16.320.322.500|C16.320.365.826.100|C16.320.400.525 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED|Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type|ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE|Alpha thalassemia mental retardation syndrome, non deletion type, X-linked|Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type, X-Linked|ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED|Alpha Thalassemia-Mental Retardation, X-Linked|Alpha Thalassemia X-Linked Intellectual Disability Syndrome|Alpha-thalassemia X-linked mental retardation syndrome|Alpha Thalassemia X-Linked Mental Retardation Syndrome|ATR non deletion type|ATR, Nondeletion Type|ATRX|ATRX Syndrome|ATR-X SYNDROME|X-linked alpha thalassemia mental retardation syndrome|X-Linked Alpha-Thalassemia Mental Retardation Syndrome|XLMR-Hypotonic Face Syndrome Blood disease|Genetic disease (inborn)|Nervous system disease Attention Deficit and Disruptive Behavior Disorders MESH:D019958 Includes two similar disorders: oppositional defiant disorder and CONDUCT DISORDERS. Symptoms occurring in children with these disorders include: defiance of authority figures, angry outbursts, and other antisocial behaviors. MESH:D065886 F03.625.094 F03.625 Attention Deficit and Disruptive Behavioral Disorders|Behavioral Disorder, Disruptive|Behavior Disorder, Disruptive|Defiant Disorder, Oppositional|Disorder, Disruptive Behavioral|Disruptive Behavioral Disorder|Disruptive Behavioral Disorders|Disruptive Behavior Disorder|Oppositional Defiant Disorder Mental disorder Attention Deficit Disorder with Hyperactivity MESH:D001289 DO:DOID:1094|OMIM:143465|OMIM:608903|OMIM:608904|OMIM:608905|OMIM:608906|OMIM:612311|OMIM:612312|OMIM:613003 A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V) MESH:D019958 F03.625.094.150 F03.625.094 ADDH|ADHD|ADHD1|ADHD2|ADHD3|ADHD4|ADHD5|ADHD6|ADHD7|Attention Deficit Disorder|Attention Deficit Disorders|Attention Deficit Disorders with Hyperactivity|Attention Deficit Hyperactivity Disorder|Attention Deficit-Hyperactivity Disorder|Attention Deficit Hyperactivity Disorders|Attention Deficit-Hyperactivity Disorders|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 1|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 2|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 3|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 4|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 5|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 6|ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7|Brain Dysfunction, Minimal|Deficit Disorder, Attention|Deficit Disorders, Attention|Deficit-Hyperactivity Disorder, Attention|Deficit-Hyperactivity Disorders, Attention|DIGIT SPAN QUANTITATIVE TRAIT LOCUS|Disorder, Attention Deficit|Disorder, Attention Deficit-Hyperactivity|Disorders, Attention Deficit|Disorders, Attention Deficit-Hyperactivity|Dysfunction, Minimal Brain|HYPERACTIVITY OF CHILDHOOD|Hyperkinetic Syndrome|Minimal Brain Dysfunction|MOTOR TIMING QUANTITATIVE TRAIT LOCUS|Syndromes, Hyperkinetic Mental disorder Attenuated familial adenomatous polyposis MESH:C538265 MESH:D011125 C04.557.470.035.215.100/C538265|C04.588.274.476.411.307.089/C538265|C04.700.100/C538265|C06.301.371.411.307.090/C538265|C06.405.249.411.307.090/C538265|C06.405.469.158.356.090/C538265|C06.405.469.491.307.090/C538265|C06.405.469.578.249/C538265|C16.320.700.100/C538265 C04.557.470.035.215.100|C04.588.274.476.411.307.089|C04.700.100|C06.301.371.411.307.090|C06.405.249.411.307.090|C06.405.469.158.356.090|C06.405.469.491.307.090|C06.405.469.578.249|C16.320.700.100 Familial Adenomatous Polyposis, Attenuated Cancer|Digestive system disease|Genetic disease (inborn) Atypical Hemolytic Uremic Syndrome MESH:D065766 DO:DOID:0080301|OMIM:235400|OMIM:612922|OMIM:612923|OMIM:612924|OMIM:612925|OMIM:612926 An hereditary hemolytic uremic syndrome associated with variations in the gene that encodes COMPLEMENT FACTOR H, or the related proteins CFHR1 and CFHR3. Disease often progresses to CHRONIC KIDNEY FAILURE without the prodromal symptoms of ENTEROCOLITIS and DIARRHEA that characterize typical hemolytic uremic syndrome. MESH:D006463 C12.050.351.968.419.936.463.500|C12.200.777.419.936.463.500|C12.950.419.936.463.500|C15.378.071.141.610.500|C15.378.140.855.925.500.500 C12.050.351.968.419.936.463|C12.200.777.419.936.463|C12.950.419.936.463|C15.378.071.141.610|C15.378.140.855.925.500 AHUS1|AHUS2|AHUS3|AHUS4|AHUS5|AHUS6|AHUS, SUSCEPTIBILITY TO, 1 HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED|AHUS, SUSCEPTIBILITY TO, 2|AHUS, SUSCEPTIBILITY TO, 3|AHUS, SUSCEPTIBILITY TO, 4|AHUS, SUSCEPTIBILITY TO, 5|AHUS, SUSCEPTIBILITY TO, 6|Atypical Hemolytic-Uremic Syndrome|Atypical Hemolytic-Uremic Syndromes|Hemolytic Uremic Syndrome, Atypical|Hemolytic-Uremic Syndrome, Atypical|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5|HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6|Hemolytic-Uremic Syndromes, Atypical|HUS, Nonenteropathic|HUS, Non-Shiga-Like Toxin-Associated|HUSs, Nonenteropathic|HUSs, Non-Shiga-Like Toxin-Associated|Nonenteropathic HUS|Nonenteropathic HUSs|Non Shiga Like Toxin Associated HUS|Non-Shiga-Like Toxin-Associated HUS|Non-Shiga-Like Toxin-Associated HUSs|Non Stx Hus|Non-Stx-Hus|Syndrome, Atypical Hemolytic-Uremic|Syndromes, Atypical Hemolytic-Uremic|Toxin-Associated HUS, Non-Shiga-Like|Toxin-Associated HUSs, Non-Shiga-Like Blood disease|Urogenital disease (female)|Urogenital disease (male) Atypical Mycobacteriosis, Familial, X-Linked 2 MESH:C567068 DO:DOID:0112000|OMIM:300645 MESH:D009165|MESH:D040181 C01.150.252.410.040.552.475/C567068|C16.320.322/C567068 C01.150.252.410.040.552.475|C16.320.322 AMCBX2|Atypical Mycobacterial Infection, Disseminated, X-Linked 2|Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 2|ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2|IMD34|IMMUNODEFICIENCY 34|IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED Bacterial infection or mycosis|Genetic disease (inborn) Atypical Squamous Cells of the Cervix MESH:D065309 Morphological abnormalities of the cervical EPITHELIUM, usually revealed in PAP SMEAR, which do not meet the criteria for squamous CERVICAL INTRAEPITHELIAL NEOPLASIA or SQUAMOUS CELL CARCINOMAS of the CERVIX . It may be a sign of infection with certain types of human papillomavirus (HPV).or sign of a benign (not cancer) growth, such as a cyst or polyp or, in menopausal women, of low hormone levels. More testing, such as HPV test, may be needed. MESH:D002578|MESH:D065308 C04.834.818.249|C12.050.351.500.852.593.074.249|C12.100.250.852.593.074.249|C23.149.500 C04.834.818|C12.050.351.500.852.593.074|C12.100.250.852.593.074|C23.149 ASC Atypical Squamous Cells|ASC H Atypical Squamous Cells, Cannot Rule Out High Grade Squamous Intra epithelial Lesion|ASC-H Atypical Squamous Cells, Cannot Rule Out High-Grade Squamous Intra-epithelial Lesion|ASC-US|ASCUS|Atypical Cervical Squamous Cells|Atypical Squamous Cell|Atypical Squamous Cells|Atypical Squamous Cells, Cannot Rule Out High Grade Squamous Intra Epithelial Lesion|Atypical Squamous Cells, Cannot Rule Out High-Grade Squamous Intra-Epithelial Lesion|Atypical Squamous Cells of Undetermined Significance|Cell, Atypical Squamous|Cells, Atypical Squamous|Squamous Cell, Atypical|Squamous Cells, Atypical Cancer|Urogenital disease (female) Auditory Diseases, Central MESH:D001304 Disorders of hearing or auditory perception due to pathological processes of the AUDITORY PATHWAYS in the CENTRAL NERVOUS SYSTEM. These include CENTRAL HEARING LOSS and AUDITORY PERCEPTUAL DISORDERS. MESH:D001927|MESH:D012181 C09.218.807.186|C10.228.140.068 C09.218.807|C10.228.140 Auditory Cortex Disorder|Auditory Cortex Disorders|Auditory Disease, Central|Auditory Dysfunction, Central|Auditory Pathway Disorders, Central|Central Auditory Disease|Central Auditory Diseases|Central Auditory Dysfunction|Central Auditory Pathway Disorders|Cortex Disorder, Auditory|Cortex Disorders, Auditory|Dysfunction, Central Auditory|Dysfunctions, Central Auditory Ear-nose-throat disease|Nervous system disease Auditory neuropathy MESH:C538268 MESH:D006313 C09.218.458.341.887.432/C538268|C09.218.807.186.432/C538268|C10.228.140.068.432/C538268|C10.597.751.418.341.887.432/C538268|C23.888.592.763.393.341.887.432/C538268 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C23.888.592.763.393.341.887.432 Auditory dys-synchrony|Familial auditory neuropathy|Progressive auditory neuropathy Ear-nose-throat disease|Nervous system disease|Signs and symptoms Auditory Neuropathy, Autosomal Dominant, 1 MESH:C563790 OMIM:609129 MESH:D006313 C09.218.458.341.887.432/C563790|C09.218.807.186.432/C563790|C10.228.140.068.432/C563790|C10.597.751.418.341.887.432/C563790|C23.888.592.763.393.341.887.432/C563790 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C23.888.592.763.393.341.887.432 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 1|Auditory Neuropathy, Nonsyndromic Dominant|AUNA1|NSDAN Ear-nose-throat disease|Nervous system disease|Signs and symptoms Auditory Neuropathy, Nonsyndromic Recessive MESH:C563398 MESH:D006319 C09.218.458.341.887/C563398|C10.597.751.418.341.887/C563398|C23.888.592.763.393.341.887/C563398 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Auditory Perceptual Disorders MESH:D001308 Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech. MESH:D001304|MESH:D003072|MESH:D010468 C09.218.807.186.094|C10.228.140.068.094|C10.597.606.762.200|C23.888.592.604.764.200|F03.615.250.100 C09.218.807.186|C10.228.140.068|C10.597.606.762|C23.888.592.604.764|F03.615.250 Acoustic Perceptual Disorder|Acoustic Perceptual Disorders|Auditory Comprehension Disorder|Auditory Comprehension Disorders|Auditory Inattention|Auditory Inattentions|Auditory Perceptual Disorder|Auditory Processing Disorder|Auditory Processing Disorders|Comprehension Disorder, Auditory|Comprehension Disorders, Auditory|Disorder, Acoustic Perceptual|Disorder, Auditory Comprehension|Disorder, Auditory Processing|Disorder, Psychoacoustical|Disorders, Acoustic Perceptual|Disorders, Auditory Comprehension|Disorders, Auditory Processing|Disorders, Psychoacoustical|Inattention, Auditory|Inattentions, Auditory|Perceptual Disorder, Acoustic|Perceptual Disorder, Auditory|Perceptual Disorders, Acoustic|Perceptual Disorders, Auditory|Processing Disorder, Auditory|Processing Disorders, Auditory|Psychoacoustical Disorder|Psychoacoustical Disorders Ear-nose-throat disease|Mental disorder|Nervous system disease|Signs and symptoms Auditory perceptual impairment MESH:C538436 MESH:D004401 C10.597.606.150.500.800.150.200/C538436|C23.888.592.604.150.500.800.150.200/C538436 C10.597.606.150.500.800.150.200|C23.888.592.604.150.500.800.150.200 Nervous system disease|Signs and symptoms Aughton syndrome MESH:C538269 MESH:D000015|MESH:D002972|MESH:D003914|MESH:D008607|MESH:D008850 C05.500.460.185/C538269|C05.660.207.540.460.185/C538269|C07.320.440.185/C538269|C07.465.525.185/C538269|C07.650.500.460.185/C538269|C07.650.525.185/C538269|C10.597.606.360/C538269|C11.250.566/C538269|C14.240.400.280/C538269|C14.280.400.280/C538269|C16.131.077/C538269|C16.131.240.400.280/C538269|C16.131.384.666/C538269|C16.131.621.207.540.460.185/C538269|C16.131.810.250/C538269|C16.131.850.500.460.185/C538269|C16.131.850.525.185/C538269|C23.888.592.604.646/C538269|F03.625.539/C538269 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.597.606.360|C11.250.566|C14.240.400.280|C14.280.400.280|C16.131.077|C16.131.240.400.280|C16.131.384.666|C16.131.621.207.540.460.185|C16.131.810.250|C16.131.850.500.460.185|C16.131.850.525.185|C23.888.592.604.646|F03.625.539 Dextrocardia, microphthalmia, cleft palate, and mental retardation|Dextrocardia with unusual facies and microphthalmia Cardiovascular disease|Congenital abnormality|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms AU-KLINE SYNDROME OMIM:616580 MESH:D001848|MESH:D003240|MESH:D008607|MESH:D019465 C05.116.099/616580|C05.660.207/616580|C10.597.606.360/616580|C16.131.621.207/616580|C17.300/616580|C23.888.592.604.646/616580|F03.625.539/616580 C05.116.099|C05.660.207|C10.597.606.360|C16.131.621.207|C17.300|C23.888.592.604.646|F03.625.539 AU-KLINE-OKAMOTO SYNDROME|AUKS|HYDRONEPHROSIS, CONGENITAL, WITH CLEFT PALATE, CHARACTERISTIC FACIES, HYPOTONIA, AND MENTAL RETARDATION|OKAMOTO SYNDROME Congenital abnormality|Connective tissue disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Aural Atresia, Congenital MESH:C564321 OMIM:607842 MESH:D000013 C16.131/C564321 C16.131 AURAL ATRESIA, CONGENITAL, WITH HYPOSMIA|CAA Congenital abnormality Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation MESH:C565923 MESH:D000015|MESH:D008607 C10.597.606.360/C565923|C16.131.077/C565923|C23.888.592.604.646/C565923|F03.625.539/C565923 C10.597.606.360|C16.131.077|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms Auriculo-condylar syndrome MESH:C538270 OMIM:602483|OMIM:612798|OMIM:614669|OMIM:615706 MESH:D004427 C09.218/C538270 C09.218 ARCND1|ARCND2A|ARCND3|AURICULAR CLEFT, CONGENITAL|Auriculocondylar syndrome|Auriculocondylar syndrome 1|AURICULOCONDYLAR SYNDROME 2A|AURICULOCONDYLAR SYNDROME 3|COSMAN DEFORMITY OF THE AURICLE|Cosman ear|Ears prominent and constricted|EARS, PROMINENT AND CONSTRICTED|QME|Question mark ear|QUESTION MARK EARS, ISOLATED|Question Mark Ears Syndrome|Question-Mark Ear Syndrome Ear-nose-throat disease Auriculoosteodysplasia MESH:C538271 MESH:D006130|MESH:D010009 C05.116.099.708/C538271|C16.320.728/C538271|C23.550.393/C538271 C05.116.099.708|C16.320.728|C23.550.393 Auriculo-osteodysplasia|Multiple osseous dysplasia, characteristic ear shape, and short stature Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Aurocephalosyndactyly MESH:C566235 MESH:D003398|MESH:D013576 C05.116.099.370.894.232/C566235|C05.116.099.370.894.819/C566235|C05.660.207.240/C566235|C05.660.585.800/C566235|C05.660.906.364/C566235|C05.660.906.819/C566235|C16.131.621.207.240/C566235|C16.131.621.585.800/C566235|C16.131.621.906.364/C566235|C16.131.621.906.819/C566235 C05.116.099.370.894.232|C05.116.099.370.894.819|C05.660.207.240|C05.660.585.800|C05.660.906.364|C05.660.906.819|C16.131.621.207.240|C16.131.621.585.800|C16.131.621.906.364|C16.131.621.906.819 Auralcephalosyndactyly Congenital abnormality|Musculoskeletal disease Ausems Wittebol-Post Hennekam syndrome MESH:C538272 MESH:D002971|MESH:D012164 C07.465.409.225/C538272|C07.465.525.164/C538272|C07.650.525.164/C538272|C11.768/C538272|C16.131.850.525.164/C538272 C07.465.409.225|C07.465.525.164|C07.650.525.164|C11.768|C16.131.850.525.164 Cleft lip with progressive retinopathy Congenital abnormality|Eye disease|Mouth disease Autism Spectrum Disorder MESH:D000067877 DO:DOID:0060041 Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (from DSM-V) MESH:D002659 F03.625.164.113 F03.625.164 Autism Spectrum Disorders|Autistic Spectrum Disorder|Autistic Spectrum Disorders|Disorder, Autistic Spectrum Mental disorder AUTISM, SUSCEPTIBILITY TO, X-LINKED 1;AUTSX1 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1, FORMERLY, OMIM:300425 MESH:D001321|MESH:D020817 F03.625.164.113.250/300425|F03.625.164.113.500/300425 F03.625.164.113.250|F03.625.164.113.500 INCLUDED;ASPGX1, FORMERLY, INCLUDED Mental disorder AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 OMIM:300495 MESH:D001321|MESH:D020817 F03.625.164.113.250/300495|F03.625.164.113.500/300495 F03.625.164.113.250|F03.625.164.113.500 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2, FORMERLY, INCLUDED;ASPGX2, FORMERLY, INCLUDED|AUTSX2|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, INCLUDED Mental disorder Autistic Disorder MESH:D001321 DO:DOID:12849|OMIM:209850|OMIM:300496|OMIM:300830|OMIM:300847|OMIM:300872|OMIM:606053|OMIM:607373|OMIM:608049|OMIM:608636|OMIM:609378|OMIM:610676|OMIM:610836|OMIM:610838|OMIM:610908|OMIM:611015|OMIM:611016|OMIM:611913|OMIM:612100|OMIM:613410|OMIM:613436|OMIM:615032|OMIM:615091 A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V) MESH:D000067877 F03.625.164.113.500 F03.625.164.113 ASD, INCLUDED|Autism|Autism, Early Infantile|Autism, Infantile|AUTISM-RELATED SPEECH DELAY|AUTISM SPECTRUM DISORDER, INCLUDED|AUTISM, SUSCEPTIBILITY TO, 10|AUTISM, SUSCEPTIBILITY TO, 11|AUTISM, SUSCEPTIBILITY TO, 12|AUTISM, SUSCEPTIBILITY TO, 13|AUTISM, SUSCEPTIBILITY TO, 14A, INCLUDED|AUTISM, SUSCEPTIBILITY TO, 15|AUTISM, SUSCEPTIBILITY TO, 16|AUTISM, SUSCEPTIBILITY TO, 17|AUTISM, SUSCEPTIBILITY TO, 18, FORMERLY|AUTISM, SUSCEPTIBILITY TO, 19|AUTISM, SUSCEPTIBILITY TO, 3|AUTISM, SUSCEPTIBILITY TO, 5, FORMERLY|AUTISM, SUSCEPTIBILITY TO, 6|AUTISM, SUSCEPTIBILITY TO, 7|AUTISM, SUSCEPTIBILITY TO, 8|AUTISM, SUSCEPTIBILITY TO, 9|AUTISM, SUSCEPTIBILITY TO, X-LINKED 3|AUTISM, SUSCEPTIBILITY TO, X-LINKED 4|AUTISM, SUSCEPTIBILITY TO, X-LINKED 5|AUTISM, SUSCEPTIBILITY TO, X-LINKED 6|AUTISM WITH OR WITHOUT SEIZURES|AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1, INCLUDED|AUTS10|AUTS11|AUTS12|AUTS13|AUTS14A, INCLUDED|AUTS15|AUTS16|AUTS17|AUTS18, FORMERLY|AUTS19|AUTS1, INCLUDED|AUTS2, FORMERLY|AUTS3|AUTS4, INCLUDED|AUTS5, FORMERLY|AUTS6|AUTS7|AUTS8|AUTS9|AUTSX3|AUTSX4|AUTSX5|AUTSX6|CHROMOSOME 15q11.2 DUPLICATION SYNDROME, INCLUDED|CHROMOSOME 15q11-q13 DUPLICATION SYNDROME|CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB|CHROMOSOME Xp22 DELETION SYNDROME|Disorder, Autistic|Disorders, Autistic|DUPLICATION 15q11-q13 SYNDROME AUTISM, SUSCEPTIBILITY TO, 4, INCLUDED|Early Infantile Autism|EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY|IDDAM|IDDAS|Infantile Autism|Infantile Autism, Early|INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY|INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY|Kanner's Syndrome|Kanners Syndrome|Kanner Syndrome|PHRASE SPEECH DELAY, AUTISM-RELATED|TMLHED Mental disorder AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 OMIM:615952 MESH:D001327 C20.111/615952 C20.111 ADMIO1 Immune system disease AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 OMIM:617006 MESH:D001327 C20.111/617006 C20.111 ADMIO2 Immune system disease AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM OMIM:613385 MESH:D001327|MESH:D019465 C05.660.207/613385|C16.131.621.207/613385|C20.111/613385 C05.660.207|C16.131.621.207|C20.111 ADMFD Congenital abnormality|Immune system disease|Musculoskeletal disease Autoimmune Diseases MESH:D001327 OMIM:109100|OMIM:613551 Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides. MESH:D007154 C20.111 C20 AIS6|Autoimmune Disease|AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6|Disease, Autoimmune|Diseases, Autoimmune Immune system disease Autoimmune Diseases of the Nervous System MESH:D020274 DO:DOID:438 Disorders caused by cellular or humoral immune responses primarily directed towards nervous system autoantigens. The immune response may be directed towards specific tissue components (e.g., myelin) and may be limited to the central nervous system (e.g., MULTIPLE SCLEROSIS) or the peripheral nervous system (e.g., GUILLAIN-BARRE SYNDROME). MESH:D001327|MESH:D009422 C10.114|C20.111.258 C10|C20.111 Antibody-Mediated Encephalitides|Antibody Mediated Encephalitis|Antibody-Mediated Encephalitis|Autoimmune Disease, Neurologic|Autoimmune Diseases, Nervous System|Autoimmune Diseases, Neurologic|Autoimmune Disorders, Nervous System|Autoimmune Disorders of the Nervous System|Autoimmune Encephalitides|Autoimmune Encephalitis|Autoimmune Nervous System Diseases|Encephalitis, Antibody-Mediated|Encephalitis, Autoimmune|Immune Diseases, Nervous System|Immune Disorders, Nervous System|Nervous System Autoimmune Diseases|Nervous System Immune Diseases|Nervous System Immune Disorders|Neurologic Autoimmune Disease|Neurologic Autoimmune Diseases Immune system disease|Nervous system disease AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 OMIM:607836 MESH:D001327|MESH:D014820 C17.800.621.440.895/607836|C20.111/607836 C17.800.621.440.895|C20.111 AIS1|AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED|VAMAS2|VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 2 Immune system disease|Skin disease AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2 OMIM:608391 MESH:D001327|MESH:D014820 C17.800.621.440.895/608391|C20.111/608391 C17.800.621.440.895|C20.111 AIS2|AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 7-RELATED|VAMAS3|VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 3 Immune system disease|Skin disease AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3 OMIM:608392 MESH:D001327|MESH:D014820 C17.800.621.440.895/608392|C20.111/608392 C17.800.621.440.895|C20.111 AIS3|AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 8-RELATED|VAMAS4|VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 4 Immune system disease|Skin disease AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4 OMIM:609400 MESH:D001327|MESH:D014820 C17.800.621.440.895/609400|C20.111/609400 C17.800.621.440.895|C20.111 AIS4|AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 4-RELATED|VAMAS5|VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 5 Immune system disease|Skin disease Autoimmune enteropathy MESH:C538273 MESH:D016884 C19.787/C538273|C20.111.750/C538273 C19.787|C20.111.750 Endocrine system disease|Immune system disease Autoimmune Hypophysitis MESH:D000069281 Immune-mediated inflammation of the PITUITARY GLAND often associated with other autoimmune diseases (e.g., HASHIMOTO DISEASE; GRAVES DISEASE; and ADDISON DISEASE). MESH:D000072659|MESH:D001327 C10.228.140.617.738.275.500|C19.700.419.500|C20.111.273 C10.228.140.617.738.275|C19.700.419|C20.111 Adenohypophysitides, Lymphocytic|Adenohypophysitis, Lymphocytic|Antibody Syndrome, Anti-PIT-1|Antibody Syndromes, Anti-PIT-1|Anti PIT 1 Antibody Syndrome|Anti-PIT-1 Antibody Syndrome|Anti-PIT-1 Antibody Syndromes|Autoimmune Hypophysitides|Granulomatous Hypophysitides, Idiopathic|Granulomatous Hypophysitis, Idiopathic|Hypophysitides, Autoimmune|Hypophysitides, Idiopathic Granulomatous|Hypophysitides, IgG4-Related|Hypophysitides, Lymphocytic|Hypophysitides, Lymphoid|Hypophysitis, Autoimmune|Hypophysitis, Idiopathic Granulomatous|Hypophysitis, IgG4-Related|Hypophysitis, Lymphocytic|Hypophysitis, Lymphoid|Idiopathic Granulomatous Hypophysitides|Idiopathic Granulomatous Hypophysitis|IgG4-Related Hypophysitides|IgG4 Related Hypophysitis|IgG4-Related Hypophysitis|Infundibuloneurohypophysitides, Lymphocytic|Infundibuloneurohypophysitis, Lymphocytic|Lymphocytic Adenohypophysitides|Lymphocytic Adenohypophysitis|Lymphocytic Hypophysitides|Lymphocytic Hypophysitis|Lymphocytic Infundibuloneurohypophysitides|Lymphocytic Infundibuloneurohypophysitis|Lymphocytic Panhypophysitides|Lymphocytic Panhypophysitis|Lymphoid Hypophysitides|Lymphoid Hypophysitis|Panhypophysitides, Lymphocytic|Panhypophysitis, Lymphocytic|Syndrome, Anti-PIT-1 Antibody|Syndromes, Anti-PIT-1 Antibody Endocrine system disease|Immune system disease|Nervous system disease AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE OMIM:616414 DO:DOID:0081242 MESH:D001168|MESH:D001327|MESH:D007674|MESH:D017563 C05.550.114/616414|C08.381.483/616414|C12.050.351.968.419/616414|C12.200.777.419/616414|C12.950.419/616414|C20.111/616414 C05.550.114|C08.381.483|C12.050.351.968.419|C12.200.777.419|C12.950.419|C20.111 AILJK Immune system disease|Musculoskeletal disease|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Autoimmune limbic encephalitis MESH:C531729 MESH:D001327|MESH:D020363 C01.207.245.700/C531729|C04.588.614.550.450/C531729|C04.730.856.437/C531729|C10.228.140.430.525/C531729|C10.228.228.245.700/C531729|C10.574.781.550/C531729|C10.586.250.525/C531729|C20.111/C531729 C01.207.245.700|C04.588.614.550.450|C04.730.856.437|C10.228.140.430.525|C10.228.228.245.700|C10.574.781.550|C10.586.250.525|C20.111 Cancer|Immune system disease|Nervous system disease Autoimmune Lymphoproliferative Syndrome MESH:D056735 DO:DOID:6688|OMIM:601859|OMIM:607271 Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY. MESH:D001327|MESH:D008232|MESH:D030342 C15.604.515.138|C16.320.089|C20.111.288|C20.683.515.124 C15.604.515|C16.320|C20.111|C20.683.515 ALPS|ALPS1A, INCLUDED|ALPS1B, INCLUDED|ALPS2B|Autoimmune Lymphoproliferative Syndromes|Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant|Autoimmune Lymphoproliferative Syndrome Type 2B|Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B)|Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant|AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, INCLUDED|AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE, INCLUDED|AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, INCLUDED|Autoimmune Lymphoproliferative Syndrome, Type IIb|Canale Smith Syndrome|Canale-Smith Syndrome|Canale-Smith Syndromes|Caspase 8 Deficiencies|Caspase-8 Deficiencies|Caspase 8 Deficiency|Caspase-8 Deficiency|CEDS|Deficiencies, Caspase 8|Deficiencies, Caspase-8|Deficiency, Caspase 8|Deficiency, Caspase-8|Lymphoproliferative Syndrome, Autoimmune|Lymphoproliferative Syndromes, Autoimmune|Syndrome, Autoimmune Lymphoproliferative|Syndrome, Canale Smith|Syndrome, Canale-Smith|Syndromes, Autoimmune Lymphoproliferative|Syndromes, Canale-Smith Genetic disease (inborn)|Immune system disease|Lymphatic disease Autoimmune Lymphoproliferative Syndrome, Type IA MESH:C566613 MESH:D056735 C15.604.515.138/C566613|C16.320.089/C566613|C20.111.288/C566613|C20.683.515.124/C566613 C15.604.515.138|C16.320.089|C20.111.288|C20.683.515.124 ALPS1A Genetic disease (inborn)|Immune system disease|Lymphatic disease Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive MESH:C566615 MESH:D056735 C15.604.515.138/C566615|C16.320.089/C566615|C20.111.288/C566615|C20.683.515.124/C566615 C15.604.515.138|C16.320.089|C20.111.288|C20.683.515.124 Genetic disease (inborn)|Immune system disease|Lymphatic disease Autoimmune Lymphoproliferative Syndrome, Type IB MESH:C566614 MESH:D056735 C15.604.515.138/C566614|C16.320.089/C566614|C20.111.288/C566614|C20.683.515.124/C566614 C15.604.515.138|C16.320.089|C20.111.288|C20.683.515.124 ALPS1B Genetic disease (inborn)|Immune system disease|Lymphatic disease Autoimmune Lymphoproliferative Syndrome, Type IIA MESH:C565833 DO:DOID:0110115|OMIM:603909 MESH:D056735 C15.604.515.138/C565833|C16.320.089/C565833|C20.111.288/C565833|C20.683.515.124/C565833 C15.604.515.138|C16.320.089|C20.111.288|C20.683.515.124 ALPS2|ALPS2A|AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II Genetic disease (inborn)|Immune system disease|Lymphatic disease AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III OMIM:615559 DO:DOID:0110119 MESH:D056735 C15.604.515.138/615559|C16.320.089/615559|C20.111.288/615559|C20.683.515.124/615559 C15.604.515.138|C16.320.089|C20.111.288|C20.683.515.124 ALPS3|CVID9, FORMERLY|IMMUNODEFICIENCY, COMMON VARIABLE, 9, FORMERLY Genetic disease (inborn)|Immune system disease|Lymphatic disease Autoimmune oophoritis MESH:C538274 MESH:D009869|MESH:D016884 C12.050.351.500.056.630.450/C538274|C12.050.351.500.056.750.500/C538274|C12.100.250.056.630.450/C538274|C12.100.250.056.750.500/C538274|C19.391.630.450/C538274|C19.787/C538274|C20.111.750/C538274 C12.050.351.500.056.630.450|C12.050.351.500.056.750.500|C12.100.250.056.630.450|C12.100.250.056.750.500|C19.391.630.450|C19.787|C20.111.750 Endocrine system disease|Immune system disease|Urogenital disease (female) Autoimmune Pancreatitis MESH:D000081012 DO:DOID:0040091 Chronic pancreatitis associated with autoimmune diseases. MESH:D001327|MESH:D050500 C06.689.750.830.500|C20.111.296|C23.550.291.500.750.500 C06.689.750.830|C20.111|C23.550.291.500.750 Autoimmune Pancreatitides|Duct-centric Pancreatitis, Idiopathic|Idiopathic Duct-centric Pancreatitides|Idiopathic Duct centric Pancreatitis|Idiopathic Duct-centric Pancreatitis|IgG4-related Pancreatitides|IgG4 related Pancreatitis|IgG4-related Pancreatitis|Pancreatitis, Autoimmune|Pancreatitis, Idiopathic Duct-centric|Pancreatitis, IgG4-related|Type 1 AIP|Type 1 Autoimmune Pancreatitis|Type 2 AIP|Type 2 Autoimmune Pancreatitis Digestive system disease|Immune system disease|Pathology (process) Autoimmune polyendocrinopathy syndrome, type 1 MESH:C538275 OMIM:240300 MESH:D016884 C19.787/C538275|C20.111.750/C538275 C19.787|C20.111.750 APECED|APS1|APS I|Autoimmune polyendocrine syndrome, type 1|AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA|AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY|Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)|Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant|Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia|AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE I|Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis|HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT, INCLUDED|PGA I|POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I|Polyglandular Deficiency Syndrome, Persian-Jewish Type|POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE, INCLUDED Endocrine system disease|Immune system disease Autoimmune progesterone dermatitis MESH:C535299 MESH:D001327|MESH:D003872 C17.800.174/C535299|C20.111/C535299 C17.800.174|C20.111 Immune system disease|Skin disease AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION OMIM:614878 MESH:D007153|MESH:D007249|MESH:D056587 C16.320.382.500/614878|C17.800.827.368.500/614878|C17.800.862.945.533.500.500/614878|C20.543.480.904.533.500.500/614878|C20.673/614878|C23.550.291.500.360.500.500/614878|C23.550.470/614878 C16.320.382.500|C17.800.827.368.500|C17.800.862.945.533.500.500|C20.543.480.904.533.500.500|C20.673|C23.550.291.500.360.500.500|C23.550.470 APLAID|AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED Genetic disease (inborn)|Immune system disease|Pathology (process)|Skin disease AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME OMIM:617099 DO:DOID:0080163 MESH:D007249|MESH:D012871|MESH:D015434|MESH:D056660 C16.320.382/617099|C17.300.710/617099|C17.800.566/617099|C17.800/617099|C17.800.827.368/617099|C23.550.470/617099 C16.320.382|C17.300.710|C17.800|C17.800.566|C17.800.827.368|C23.550.470 AIPDS|ORAS|OTULIN-RELATED AUTOINFLAMMATORY SYNDROME|OTULIPENIA Connective tissue disease|Genetic disease (inborn)|Pathology (process)|Skin disease AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS OMIM:617388 MESH:D001168|MESH:D007249|MESH:D012868|MESH:D056660 C05.550.114/617388|C16.131.831/617388|C16.320.382/617388|C17.800.804/617388|C17.800.827.368/617388|C23.550.470/617388 C05.550.114|C16.131.831|C16.320.382|C17.800.804|C17.800.827.368|C23.550.470 AIADK Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Skin disease AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS OMIM:616050 MESH:D004760|MESH:D007249|MESH:D056660 C06.405.205.596/616050|C06.405.469.363/616050|C16.320.382/616050|C17.800.827.368/616050|C23.550.470/616050 C06.405.205.596|C06.405.469.363|C16.320.382|C17.800.827.368|C23.550.470 AIFEC Digestive system disease|Genetic disease (inborn)|Pathology (process)|Skin disease AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 1 OMIM:616744 DO:DOID:0080944 MESH:D001528|MESH:D007249 C07.465.075/616744|C11.941.879.780.880.200/616744|C14.907.940.100/616744|C16.320.382.250/616744|C17.800.827.368.250/616744|C17.800.862.150/616744|C23.550.470/616744 C07.465.075|C11.941.879.780.880.200|C14.907.940.100|C16.320.382.250|C17.800.827.368.250|C17.800.862.150|C23.550.470 AIFBL|AIFBL1 Cardiovascular disease|Eye disease|Genetic disease (inborn)|Mouth disease|Pathology (process)|Skin disease Autolysis MESH:D001329 The spontaneous disintegration of tissues or cells by the action of their own autogenous enzymes. MESH:D011180 C23.550.260.224.617.236 C23.550.260.224.617 Autolyses Pathology (process) Autonomic Dysreflexia MESH:D020211 A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60) MESH:D001342|MESH:D013119 C10.177.090|C10.900.850.250 C10.177|C10.900.850 Autonomic Dysreflexias|Autonomic Dysreflexia, Spinal|Autonomic Dysreflexias, Spinal|Autonomic Hyperreflexia|Autonomic Hyperreflexias|Dysreflexia, Autonomic|Dysreflexias, Autonomic|Dysreflexia, Spinal Autonomic|Dysreflexias, Spinal Autonomic|Hyperreflexia, Autonomic|Hyperreflexias, Autonomic|Spinal Autonomic Dysreflexia|Spinal Autonomic Dysreflexias Nervous system disease Autonomic Nervous System Diseases MESH:D001342 Diseases of the parasympathetic or sympathetic divisions of the AUTONOMIC NERVOUS SYSTEM; which has components located in the CENTRAL NERVOUS SYSTEM and PERIPHERAL NERVOUS SYSTEM. Autonomic dysfunction may be associated with HYPOTHALAMIC DISEASES; BRAIN STEM disorders; SPINAL CORD DISEASES; and PERIPHERAL NERVOUS SYSTEM DISEASES. Manifestations include impairments of vegetative functions including the maintenance of BLOOD PRESSURE; HEART RATE; pupil function; SWEATING; REPRODUCTIVE AND URINARY PHYSIOLOGY; and DIGESTION. MESH:D009422 C10.177 C10 ANS (Autonomic Nervous System) Diseases|ANS Disease|ANS Diseases|Autonomic Central Nervous System Diseases|Autonomic Disease|Autonomic Diseases|Autonomic Dysfunction, Segmental|Autonomic Dysfunctions, Segmental|Autonomic Nervous System Disorders|Autonomic Peripheral Nervous System Diseases|Central Autonomic Nervous System Diseases|Disorders of the Autonomic Nervous System|Nervous System Diseases, Autonomic|Nervous System Diseases, Parasympathetic|Nervous System Diseases, Sympathetic|Parasympathetic Nervous System Diseases|Peripheral Autonomic Nervous System Diseases|Segmental Autonomic Dysfunction|Segmental Autonomic Dysfunctions|Sympathetic Nervous System Diseases Nervous system disease Autosomal dominant compelling helio ophthalmic outburst syndrome MESH:C535300 MESH:D012912 C23.888.852.889/C535300 C23.888.852.889 Autosomal Dominant Compelling Helioophthalmic Outburst Syndrome|Peroutka sneeze|Photic sneeze reflex Signs and symptoms Autosomal dominant diffuse Lewy body disease MESH:C538637 MESH:D020961 C10.228.140.079.862.400/C538637|C10.228.140.380.422/C538637|C10.228.662.600.200/C538637|C10.574.928.500/C538637|F03.615.400.512/C538637 C10.228.140.079.862.400|C10.228.140.380.422|C10.228.662.600.200|C10.574.928.500|F03.615.400.512 Mental disorder|Nervous system disease Autosomal Dominant Lateral Temporal Lobe Epilepsy MESH:C537297 MESH:D012893|MESH:D017034 C10.228.140.490.360.270/C537297|C10.228.140.490.493.188/C537297|C10.886/C537297|C23.888.592.796/C537297|F03.870/C537297 C10.228.140.490.360.270|C10.228.140.490.493.188|C10.886|C23.888.592.796|F03.870 Autosomal dominant partial epilepsy with auditory features|Epilepsy, Lateral Temporal Lobe, Autosomal Dominant|Epilepsy, Partial, With Auditory Features Mental disorder|Nervous system disease|Signs and symptoms Autosomal Dominant Nocturnal Frontal Lobe Epilepsy MESH:C579932 DO:DOID:0060681 MESH:D017034 C10.228.140.490.360.270/C579932|C10.228.140.490.493.188/C579932 C10.228.140.490.360.270|C10.228.140.490.493.188 Adnfle Nervous system disease Autosomal Emery-Dreifuss Muscular Dystrophy MESH:D000083144 Emery-Dreifuss muscular dystrophy associated with mutations on LAMINS (LMNA gene). MESH:D000083083|MESH:D020389 C05.651.534.500.350.250|C10.668.491.175.500.350.250|C16.320.488.500|C16.320.577.350.250 C05.651.534.500.350|C10.668.491.175.500.350|C16.320.488|C16.320.577.350 Autosomal Dominant Emery Dreifuss Muscular Dystrophy|Autosomal Dominant Emery-Dreifuss Muscular Dystrophy|Autosomal Emery Dreifuss Muscular Dystrophy|Emery Dreifuss Muscular Dystrophy 2|Emery-Dreifuss Muscular Dystrophy 2|Emery Dreifuss Muscular Dystrophy, Autosomal Dominant|Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant|Hauptmann Thannhauser Muscular Dystrophy|Hauptmann-Thannhauser Muscular Dystrophy|Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant|Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant|Scapuloilioperoneal Atrophy with Cardiopathy Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Autosomal Recessive Cerebellar Ataxia Type 1 MESH:C579934 MESH:D002524 C10.228.140.252.190/C579934|C10.597.350.090.500/C579934|C23.888.592.350.090.200/C579934 C10.228.140.252.190|C10.597.350.090.500|C23.888.592.350.090.200 Arca1|Autosomal Recessive Spinocerebellar Ataxia 8|Recessive Ataxia of Beauce Nervous system disease|Signs and symptoms Autosomal recessive nonsyndromic congenital nuclear cataract MESH:C537298 MESH:D002386 C11.510.245/C537298 C11.510.245 Congenital nuclear cataract, autosomal recessive Eye disease Autosomal Recessive Primary Microcephaly MESH:C579935 MESH:D008831 C05.660.207.620/C579935|C10.500.507.400.500/C579935|C16.131.621.207.620/C579935|C16.131.666.507.400.500/C579935 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 Microcephaly Primary Hereditary|Primary Autosomal Recessive Microcephaly|True Microcephaly Congenital abnormality|Musculoskeletal disease|Nervous system disease Avian Leukosis MESH:D001353 A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere. MESH:D001715|MESH:D007942|MESH:D012192|MESH:D014412 C01.925.782.815.096|C01.925.928.120|C04.557.337.372.216|C04.619.531.216|C22.131.094 C01.925.782.815|C01.925.928|C04.557.337.372|C04.619.531|C22.131 Avian Leukoses|Leukoses, Avian|Leukosis, Avian Animal disease|Cancer|Viral disease avian vacuolar myelinopathy MESH:C000715927 MESH:D001715|MESH:D003711 C10.314/C000715927|C22.131/C000715927 C10.314|C22.131 vacuolar myelinopathy Animal disease|Nervous system disease Avitaminosis MESH:D001361 A condition due to a deficiency of one or more essential vitamins. (Dorland, 27th ed) MESH:D003677 C18.654.521.500.133 C18.654.521.500 Avitaminoses|Deficiencies, Vitamin|Deficiency, Vitamin|Vitamin Deficiencies|Vitamin Deficiency Nutrition disorder Avoidant Restrictive Food Intake Disorder MESH:D000080146 An eating or feeding disturbance (e.g., apparent lack of interest in eating or food; avoidance based on the sensory characteristics of food; concern about aversive consequences of eating) as manifested by persistent failure to meet appropriate nutritional and/or energy needs associated with one (or more) of the following: significant weight loss (or failure to achieve expected weight gain or faltering growth in children); significant nutritional deficiency; dependence on enteral feeding or oral nutritional supplements; or marked interference with psychosocial functioning. (from DSM-V) MESH:D001068 F03.400.157 F03.400 ARFID|Food Neophobia|Food Neophobias|Neophobia, Food Mental disorder Avulavirus Infections MESH:D045463 Infections with viruses of the genus AVULAVIRUS, family PARAMYXOVIRIDAE. This includes NEWCASTLE DISEASE and other infections of domestic fowl. MESH:D018184 C01.925.782.580.600.080 C01.925.782.580.600 Avulavirus Infection|Infection, Avulavirus|Infections, Avulavirus Viral disease Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss MESH:C537789 MESH:D000015|MESH:D005124|MESH:D006319|MESH:D006344 C09.218.458.341.887/C537789|C10.597.751.418.341.887/C537789|C11.250/C537789|C14.240.400.560.375/C537789|C14.280.400.560.375/C537789|C16.131.077/C537789|C16.131.240.400.560.375/C537789|C16.131.384/C537789|C23.888.592.763.393.341.887/C537789 C09.218.458.341.887|C10.597.751.418.341.887|C11.250|C14.240.400.560.375|C14.280.400.560.375|C16.131.077|C16.131.240.400.560.375|C16.131.384|C23.888.592.763.393.341.887 Axenfeld-Rieger anomaly with atrial septal defect and sensorineural hearing loss Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities MESH:C566234 MESH:D005124|MESH:D006319|MESH:D006849|MESH:D006972|MESH:D007593|MESH:D009123|MESH:D019066 C05.116.099.370.231.480/C566234|C05.550.521/C566234|C05.660.207.231.480/C566234|C09.218.458.341.887/C566234|C10.228.140.602/C566234|C10.597.613.575/C566234|C10.597.751.418.341.887/C566234|C11.250/C566234|C16.131.384/C566234|C16.131.621.207.231.480/C566234|C23.550.291.812/C566234|C23.888.592.608.575/C566234|C23.888.592.763.393.341.887/C566234 C05.116.099.370.231.480|C05.550.521|C05.660.207.231.480|C09.218.458.341.887|C10.228.140.602|C10.597.613.575|C10.597.751.418.341.887|C11.250|C16.131.384|C16.131.621.207.231.480|C23.550.291.812|C23.888.592.608.575|C23.888.592.763.393.341.887 De Hauwere Syndrome|Iris Dysplasia with Ocular Hypertelorism, Psychomotor Retardation, and Sensorineural Deafness Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Axenfeld-Rieger syndrome MESH:C535679 DO:DOID:14686 MESH:D005124|MESH:D015785 C11.250/C535679|C11.270/C535679|C16.131.384/C535679|C16.320.290/C535679 C11.250|C11.270|C16.131.384|C16.320.290 Anterior Chamber Cleavage Syndrome|Axenfeld Anomaly|Axenfeld-Rieger Anomaly|Axenfeld-Rieger Anomaly with or without Cardiac Defects and-or Sensorineural Hearing Loss|Axenfeld-Rieger Syndrome, Type 1|Axenfeld-Rieger Syndrome, Type 3|Axenfeld Syndrome|Iridogoniodysgenesis with somatic anomalies|Rieger syndrome|Rieger Syndrome, Type 1|Rieger Syndrome, Type 3 Congenital abnormality|Eye disease|Genetic disease (inborn) AXENFELD-RIEGER SYNDROME, TYPE 1 OMIM:180500 DO:DOID:0110120 MESH:C535679|MESH:D000848|MESH:D001004|MESH:D003318|MESH:D006554|MESH:D009223|MESH:D019066|MESH:D019465 C05.651.534.500.500/180500|C05.651.662.750/180500|C05.660.207/180500|C06.405.469.860.101/180500|C07.650.800.100/180500|C07.793.700.100/180500|C10.574.500.547/180500|C10.668.491.175.500.500/180500|C10.668.491.606.750/180500|C11.204.299/180500|C11.250/C535679/180500|C11.270/C535679/180500|C16.131.384/C535679/180500|C16.131.621.207/180500|C16.131.850.800.100/180500|C16.320.290/C535679/180500|C16.320.400.542/180500|C16.320.577.500/180500|C16.614.378/180500|C23.300.707.374.937.500/180500|C23.550.291.812/180500 C05.651.534.500.500|C05.651.662.750|C05.660.207|C06.405.469.860.101|C07.650.800.100|C07.793.700.100|C10.574.500.547|C10.668.491.175.500.500|C10.668.491.606.750|C11.204.299|C11.250/C535679|C11.270/C535679|C16.131.384/C535679|C16.131.621.207|C16.131.850.800.100|C16.320.290/C535679|C16.320.400.542|C16.320.577.500|C16.614.378|C23.300.707.374.937.500|C23.550.291.812 RGS|RIEG|RIEG1|RIEGER SYNDROME, TYPE 1 Congenital abnormality|Digestive system disease|Eye disease|Genetic disease (inborn)|Infant-newborn disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process) AXENFELD-RIEGER SYNDROME, TYPE 2 OMIM:601499 DO:DOID:0110121 MESH:C535679|MESH:D000848|MESH:D008439 C05.500.693/601499|C07.320.660/601499|C07.650.800.100/601499|C07.793.700.100/601499|C11.250/C535679/601499|C11.270/C535679/601499|C16.131.384/C535679/601499|C16.131.850.800.100/601499|C16.320.290/C535679/601499 C05.500.693|C07.320.660|C07.650.800.100|C07.793.700.100|C11.250/C535679|C11.270/C535679|C16.131.384/C535679|C16.131.850.800.100|C16.320.290/C535679 RIEG2|RIEGER SYNDROME, TYPE 2 Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease AXENFELD-RIEGER SYNDROME, TYPE 3 OMIM:602482 DO:DOID:0110122 MESH:C535679 C11.250/C535679/602482|C11.270/C535679/602482|C16.131.384/C535679/602482|C16.320.290/C535679/602482 C11.250/C535679|C11.270/C535679|C16.131.384/C535679|C16.320.290/C535679 ANTERIOR CHAMBER CLEAVAGE SYNDROME|AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS|RIEG3|RIEGER SYNDROME, TYPE 3 Congenital abnormality|Eye disease|Genetic disease (inborn) Axial mesodermal dysplasia spectrum MESH:C537790 MESH:D000015|MESH:D001006|MESH:D003286|MESH:D006053 C05.116.099.370.231.576.410/C537790|C05.550.323/C537790|C05.651.197/C537790|C05.660.207.231.576.410/C537790|C06.198.050/C537790|C16.131.077/C537790|C16.131.314.094/C537790|C16.131.621.207.231.576.410/C537790 C05.116.099.370.231.576.410|C05.550.323|C05.651.197|C05.660.207.231.576.410|C06.198.050|C16.131.077|C16.131.314.094|C16.131.621.207.231.576.410 Russell Weaver Bull syndrome Congenital abnormality|Digestive system disease|Musculoskeletal disease Axial osteomalacia MESH:C537791 DO:DOID:0080039 MESH:D010018 C05.116.198.816.640/C537791|C18.452.104.816.640/C537791|C18.452.174.845.640/C537791|C18.654.521.500.133.770.734.640/C537791 C05.116.198.816.640|C18.452.104.816.640|C18.452.174.845.640|C18.654.521.500.133.770.734.640 Atypical osteomalacia involving the axial skeleton Metabolic disease|Musculoskeletal disease|Nutrition disorder Axial osteosclerosis MESH:C537792 MESH:D010026 C05.116.099.708.702/C537792 C05.116.099.708.702 Osteomesopyknosis Musculoskeletal disease Axial Spondyloarthritis MESH:D000089183 A spectrum of chronic inflammatory conditions affecting the axial joints (e.g., SPINE), characterized by pain, stiffness of joints (ANKYLOSIS), reduced mobility and inflammation. When joint inflammation and damage are visible on regular X-rays it is called ANKYLOSING SPONDYLITIS; otherwise it is referred to as NON-RADIOGRAPHIC AXIAL SPONDYLOARTHRITIS. HLA-B27 ANTIGEN is a biomarker and IL-23/IL-17 pathway a potential therapeutic target for axial and other related spondyloarthritis. MESH:D000844|MESH:D025242 C05.116.900.853.625.800.744|C05.550.069.340|C05.550.114.865.800.744 C05.116.900.853.625.800|C05.550.069|C05.550.114.865.800 Axial Spondyloarthritides|AxSpA|Spondyloarthritides, Axial|Spondyloarthritis, Axial Musculoskeletal disease Ayazi syndrome MESH:C537793 MESH:D003638|MESH:D009765|MESH:D015794 C09.218.458.341.186/C537793|C10.597.751.418.341.186/C537793|C11.270.142/C537793|C11.941.160.300/C537793|C16.320.290.142/C537793|C16.320.322.092/C537793|C18.654.726.750.500/C537793|C23.888.144.699.500/C537793|C23.888.592.763.393.341.186/C537793 C09.218.458.341.186|C10.597.751.418.341.186|C11.270.142|C11.941.160.300|C16.320.290.142|C16.320.322.092|C18.654.726.750.500|C23.888.144.699.500|C23.888.592.763.393.341.186 Choroideremia deafness obesity|Choroideremia, obesity, and congenital deafness|Choroideremia with Deafness and Obesity Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Nutrition disorder|Signs and symptoms Azoospermia MESH:D053713 DO:DOID:14227 A condition of having no sperm present in the ejaculate (SEMEN). MESH:D007248 C12.100.500.430.380|C12.100.750.700.380|C12.200.294.430.380 C12.100.500.430|C12.100.750.700|C12.200.294.430 Urogenital disease (male) Azoospermia, Nonobstructive MESH:C564665 OMIM:606766 MESH:D053713 C12.100.500.430.380/C564665|C12.100.750.700.380/C564665|C12.200.294.430.380/C564665 C12.100.500.430.380|C12.100.750.700.380|C12.200.294.430.380 SPERMATOGENIC FAILURE 3|SPGF3 Urogenital disease (male) Azotemia MESH:D053099 A biochemical abnormality referring to an elevation of BLOOD UREA NITROGEN and CREATININE. Azotemia can be produced by KIDNEY DISEASES or other extrarenal disorders. When azotemia becomes associated with a constellation of clinical signs, it is termed UREMIA. MESH:D010335|MESH:D014511 C12.050.351.968.419.936.231|C12.200.777.419.936.231|C12.950.419.936.231|C23.550.145 C12.050.351.968.419.936|C12.200.777.419.936|C12.950.419.936|C23.550 Azotaemia Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Azotemia, Familial MESH:C566233 MESH:D015499 C12.050.351.968.419.815/C566233|C12.200.777.419.815/C566233|C12.950.419.815/C566233|C16.320.565.893/C566233|C16.320.831/C566233|C18.452.648.893/C566233 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.565.893|C16.320.831|C18.452.648.893 Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Babesiosis MESH:D001404 DO:DOID:9643 A group of tick-borne diseases of mammals including ZOONOSES in humans. They are caused by protozoa of the genus BABESIA, which parasitize erythrocytes, producing hemolysis. In the U.S., the organism's natural host is mice and transmission is by the deer tick IXODES SCAPULARIS. MESH:D011528|MESH:D011529|MESH:D017282 C01.610.701.688.122|C01.610.752.075|C01.610.752.625.122|C01.920.930.182|C22.674.710.122 C01.610.701.688|C01.610.752|C01.610.752.625|C01.920.930|C22.674.710 Babesia Infection|Babesia Infections|Babesia Parasite Infection|Babesia Parasite Infections|Babesiases|Babesiasis|Babesioses|Babesioses, Human|Babesiosis, Human|Human Babesioses|Human Babesiosis|Infection, Babesia|Infection, Babesia Parasite|Infections, Babesia|Infections, Babesia Parasite|Piroplasmoses|Piroplasmosis Animal disease|Parasitic disease Baby rattle pelvic dysplasia MESH:C537794 MESH:D000130 C05.116.099.343.110/C537794|C05.116.099.708.017/C537794|C16.320.240.500/C537794 C05.116.099.343.110|C05.116.099.708.017|C16.320.240.500 Genetic disease (inborn)|Musculoskeletal disease Baby Rattle Pelvis Dysplasia MESH:C565282 MESH:D001848 C05.116.099/C565282 C05.116.099 Musculoskeletal disease Bacillaceae Infections MESH:D016863 Infections with bacteria of the family BACILLACEAE. MESH:D016908 C01.150.252.410.090 C01.150.252.410 Bacillaceae Infection|Infection, Bacillaceae|Infections, Bacillaceae Bacterial infection or mycosis Back Injuries MESH:D019567 General or unspecified injuries to the posterior part of the trunk. It includes injuries to the muscles of the back. MESH:D014947 C26.117 C26 Back Injury|Injuries, Back|Injury, Back Wounds and injuries Back Pain MESH:D001416 Acute or chronic pain located in the posterior regions of the THORAX; LUMBOSACRAL REGION; or the adjacent regions. MESH:D010146 C23.888.592.612.107 C23.888.592.612 Ache, Back|Aches, Back|Backache|Back Ache|Backaches|Back Aches|Back Pains|Back Pain without Radiation|Back Pain with Radiation|Pain, Back|Pains, Back|Pain Syndromes, Vertebrogenic|Pain Syndrome, Vertebrogenic|Syndromes, Vertebrogenic Pain|Syndrome, Vertebrogenic Pain|Vertebrogenic Pain Syndrome|Vertebrogenic Pain Syndromes Signs and symptoms Bacteremia MESH:D016470 OMIM:614382|OMIM:614383 The presence of viable bacteria circulating in the blood. Fever, chills, tachycardia, and tachypnea are common acute manifestations of bacteremia. The majority of cases are seen in already hospitalized patients, most of whom have underlying diseases or procedures which render their bloodstreams susceptible to invasion. MESH:D001424|MESH:D018805 C01.150.252.100|C01.757.100|C23.550.470.790.500.100 C01.150.252|C01.757|C23.550.470.790.500 BACTEREMIA, RESISTANCE TO, INCLUDED|Bacteremias|BACTEREMIA, SUSCEPTIBILITY TO, 1|BACTEREMIA, SUSCEPTIBILITY TO, 2|BACTS1|BACTS2 Bacterial infection or mycosis|Pathology (process) Bacterial Infections MESH:D001424 DO:DOID:104 Infections by bacteria, general or unspecified. MESH:D001423 C01.150.252 C01.150 Bacterial Disease|Bacterial Diseases|Bacterial Infection|Infection, Bacterial|Infections, Bacterial Bacterial infection or mycosis Bacterial Infections and Mycoses MESH:D001423 Infections caused by bacteria and fungi, general, specified, or unspecified. MESH:D007239 C01.150 C01 Bacterial infection or mycosis Bacterial Zoonoses MESH:D000086966 Bacterial infections that may be transmitted between non-human animals and HUMANS. MESH:D001424|MESH:D015047 C01.150.252.162|C01.973.250|C22.969.250 C01.150.252|C01.973|C22.969 Bacterial Diseases, Zoonotic|Bacterial Disease, Zoonotic|Bacterial Infections, Zoonotic|Bacterial Infection, Zoonotic|Bacterial Zoonose|Bacterial Zoonosis|Bacterial Zoonotic Disease|Bacterial Zoonotic Diseases|Bacterial Zoonotic Infection|Bacterial Zoonotic Infections|Bacterial Zoonotic Spillover|Bacterial Zoonotic Spillovers|Disease, Bacterial Zoonotic|Diseases, Bacterial Zoonotic|Diseases, Zoonotic Bacterial|Disease, Zoonotic Bacterial|Infection, Bacterial Zoonotic|Infections, Bacterial Zoonotic|Infections, Zoonotic Bacterial|Infection, Zoonotic Bacterial|Zoonose, Bacterial|Zoonoses, Bacterial|Zoonosis, Bacterial|Zoonotic Bacterial Disease|Zoonotic Bacterial Diseases|Zoonotic Bacterial Infection|Zoonotic Bacterial Infections|Zoonotic Disease, Bacterial|Zoonotic Diseases, Bacterial|Zoonotic Infection, Bacterial|Zoonotic Infections, Bacterial|Zoonotic Spillover, Bacterial|Zoonotic Spillovers, Bacterial Animal disease|Bacterial infection or mycosis Bacteriuria MESH:D001437 DO:DOID:1412 The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the URINARY TRACT and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection. MESH:D014552 C01.915.219|C12.050.351.968.892.219|C12.200.777.892.219|C12.950.892.219 C01.915|C12.050.351.968.892|C12.200.777.892|C12.950.892 Bacteriurias Urogenital disease (female)|Urogenital disease (male) Bacteroidaceae Infections MESH:D016866 Infections with bacteria of the family BACTEROIDACEAE. MESH:D016905 C01.150.252.400.110 C01.150.252.400 Bacteroidaceae Infection|Infection, Bacteroidaceae|Infections, Bacteroidaceae Bacterial infection or mycosis Bacteroides Infections MESH:D001442 Infections with bacteria of the genus BACTEROIDES. MESH:D016866 C01.150.252.400.110.109 C01.150.252.400.110 Bacteroides Infection|Infection, Bacteroides|Infections, Bacteroides Bacterial infection or mycosis BADS Syndrome MESH:C562663 MESH:D006319|MESH:D010859 C09.218.458.341.887/C562663|C10.597.751.418.341.887/C562663|C17.800.621/C562663|C23.550.755/C562663|C23.888.592.763.393.341.887/C562663 C09.218.458.341.887|C10.597.751.418.341.887|C17.800.621|C23.550.755|C23.888.592.763.393.341.887 Black Locks with Albinism and Deafness Syndrome Ear-nose-throat disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Baetz-Greenwalt syndrome MESH:C537795 MESH:D002972|MESH:D006330|MESH:D008831|MESH:D008844 C05.500.460.185/C537795|C05.500.460.457/C537795|C05.660.207.540.460.185/C537795|C05.660.207.540.460.457/C537795|C05.660.207.620/C537795|C07.320.440.185/C537795|C07.320.440.457/C537795|C07.465.525.185/C537795|C07.650.500.460.185/C537795|C07.650.500.460.457/C537795|C07.650.525.185/C537795|C10.500.507.400.500/C537795|C14.240.400/C537795|C14.280.400/C537795|C16.131.240.400/C537795|C16.131.621.207.540.460.185/C537795|C16.131.621.207.540.460.457/C537795|C16.131.621.207.620/C537795|C16.131.666.507.400.500/C537795|C16.131.850.500.460.185/C537795|C16.131.850.500.460.457/C537795|C16.131.850.525.185/C537795 C05.500.460.185|C05.500.460.457|C05.660.207.540.460.185|C05.660.207.540.460.457|C05.660.207.620|C07.320.440.185|C07.320.440.457|C07.465.525.185|C07.650.500.460.185|C07.650.500.460.457|C07.650.525.185|C10.500.507.400.500|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.540.460.185|C16.131.621.207.540.460.457|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.850.500.460.185|C16.131.850.500.460.457|C16.131.850.525.185 Hypoplastic right-sided heart complex Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease Bagatelle Cassidy syndrome MESH:C537796 MESH:D002658|MESH:D006312|MESH:D006972|MESH:D017880|MESH:D058627 C05.116.099.370.231.480/C537796|C05.660.207.231.480/C537796|C05.660.207.536/C537796|C05.660.585/C537796|C09.218.458.341.374/C537796|C10.500.507.400.249/C537796|C10.597.751.418.341.374/C537796|C16.131.621.207.231.480/C537796|C16.131.621.207.532/C537796|C16.131.621.585/C537796|C16.131.666.507.400.249/C537796|C23.888.592.763.393.341.374/C537796|F03.625.421/C537796 C05.116.099.370.231.480|C05.660.207.231.480|C05.660.207.536|C05.660.585|C09.218.458.341.374|C10.500.507.400.249|C10.597.751.418.341.374|C16.131.621.207.231.480|C16.131.621.207.532|C16.131.621.585|C16.131.666.507.400.249|C23.888.592.763.393.341.374|F03.625.421 Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay|Macrocephaly short limbs deafness Congenital abnormality|Ear-nose-throat disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Bahemuka Brown syndrome MESH:C537797 MESH:D003872|MESH:D004401|MESH:D012021|MESH:D015419 C10.500.300.820/C537797|C10.574.500.495.820/C537797|C10.597.606.150.500.800.150.200/C537797|C10.597.704/C537797|C10.668.829.800.300.820/C537797|C16.131.666.300.820/C537797|C16.320.400.375.820/C537797|C17.800.174/C537797|C23.888.592.604.150.500.800.150.200/C537797|C23.888.592.717/C537797 C10.500.300.820|C10.574.500.495.820|C10.597.606.150.500.800.150.200|C10.597.704|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C17.800.174|C23.888.592.604.150.500.800.150.200|C23.888.592.717 Spastic paraplegia facial cutaneous lesions Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease Bainbridge-Ropers syndrome MESH:C000726367 MESH:D000015|MESH:D019066|MESH:D065886 C16.131.077/C000726367|C23.550.291.812/C000726367|F03.625/C000726367 C16.131.077|C23.550.291.812|F03.625 ASXL3 deficiency syndrome|ASXL3-related disorder Congenital abnormality|Mental disorder|Pathology (process) BAINBRIDGE-ROPERS SYNDROME OMIM:615485 DO:DOID:0080893 MESH:D002658|MESH:D011596 C10.597.606.881/615485|C23.888.592.604.882/615485|F03.625.421/615485 C10.597.606.881|C23.888.592.604.882|F03.625.421 BRPS Mental disorder|Nervous system disease|Signs and symptoms Baker Vinters syndrome MESH:C537899 MESH:D006849|MESH:D019465 C05.660.207/C537899|C10.228.140.602/C537899|C16.131.621.207/C537899 C05.660.207|C10.228.140.602|C16.131.621.207 Hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies Congenital abnormality|Musculoskeletal disease|Nervous system disease Baker-Winegrad disease MESH:C537900 MESH:D015319 C16.320.565.202.251.221/C537900|C18.452.648.202.251.221/C537900 C16.320.565.202.251.221|C18.452.648.202.251.221 Autosomal recessive fructose 1, 6-diphosphatase deficiency Genetic disease (inborn)|Metabolic disease Balanitis MESH:D001446 DO:DOID:13033 Inflammation of the head of the PENIS, glans penis. MESH:D010409 C12.100.500.494.136|C12.200.294.494.136 C12.100.500.494|C12.200.294.494 Balanitides Urogenital disease (male) Balanitis Xerotica Obliterans MESH:D052798 DO:DOID:8738 An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice. MESH:D001446 C12.100.500.494.136.500|C12.200.294.494.136.500 C12.100.500.494.136|C12.200.294.494.136 Kraurosis Penis Urogenital disease (male) Balantidiasis MESH:D001447 DO:DOID:12386 Infection by parasites of the genus BALANTIDIUM. The presence of Balantidium in the LARGE INTESTINE leads to DIARRHEA; DYSENTERY; and occasionally ULCER. MESH:D007411|MESH:D016770 C01.610.432.146|C01.610.752.200.146|C06.405.469.452.146 C01.610.432|C01.610.752.200|C06.405.469.452 Balantidiases|Balantidium coli Infection|Balantidium coli Infections|Balantidium Infection|Balantidium Infections|B. coli Infection|B. coli Infections|Infection, B. coli Digestive system disease|Parasitic disease Balkan Nephropathy MESH:D001449 DO:DOID:3052 A form of chronic interstitial nephritis that is endemic to limited areas of BULGARIA, the former YUGOSLAVIA, and ROMANIA. It is characterized by a progressive shrinking of the KIDNEYS that is often associated with uroepithelial tumors. MESH:D009395 C12.050.351.968.419.570.643.150|C12.200.777.419.570.643.150|C12.950.419.570.643.150 C12.050.351.968.419.570.643|C12.200.777.419.570.643|C12.950.419.570.643 Balkan Endemic Nephropathy|Danubian Endemic Familial Nephropathy|Endemic Nephropathy, Balkan|Nephropathy, Balkan|Nephropathy, Balkan Endemic Urogenital disease (female)|Urogenital disease (male) Bamforth syndrome MESH:C537901 OMIM:241850 MESH:D000015|MESH:D002972|MESH:D006201|MESH:D007037 C05.500.460.185/C537901|C05.660.207.540.460.185/C537901|C07.320.440.185/C537901|C07.465.525.185/C537901|C07.650.500.460.185/C537901|C07.650.525.185/C537901|C16.131.077/C537901|C16.131.621.207.540.460.185/C537901|C16.131.850.500.460.185/C537901|C16.131.850.525.185/C537901|C17.800.329/C537901|C19.874.482/C537901 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.077|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C17.800.329|C19.874.482 Bamforth-Lazarus syndrome|BAMFORTH SYNDROME|BAMLAZ|Hypothyroidism, athyroidal, with spiky hair and cleft palate|Hypothyroidism cleft palate|HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE|Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate Congenital abnormality|Endocrine system disease|Mouth disease|Musculoskeletal disease|Skin disease Band Heterotopia of Brain MESH:C563950 OMIM:600348 MESH:D054221 C10.500.507.450.230/C563950|C10.500.507.450.499.230/C563950|C16.131.666.507.450.230/C563950|C16.131.666.507.450.499.230/C563950|C16.320.322.500.186/C563950 C10.500.507.450.230|C10.500.507.450.499.230|C16.131.666.507.450.230|C16.131.666.507.450.499.230|C16.320.322.500.186 BAND HETEROTOPIA|BH Congenital abnormality|Genetic disease (inborn)|Nervous system disease Bangstad syndrome MESH:C537902 MESH:D001259|MESH:D003922|MESH:D004392|MESH:D006042 C05.116.099.343/C537902|C10.597.350.090/C537902|C16.320.240/C537902|C18.452.394.750.124/C537902|C19.246.267/C537902|C19.297/C537902|C19.874.283/C537902|C20.111.327/C537902|C23.888.592.350.090/C537902 C05.116.099.343|C10.597.350.090|C16.320.240|C18.452.394.750.124|C19.246.267|C19.297|C19.874.283|C20.111.327|C23.888.592.350.090 Endocrine system disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Bankart Lesions MESH:D000070896 An anterior capsulolabral injury associated with a tear of the anteroinferior GLENOID LABRUM. MESH:D012784 C26.404.625.500|C26.803.250.500 C26.404.625|C26.803.250 Bankart Fractures|Bankart Lesion|Bankart Lesion, Bony|Bankart Lesion, Osseous|Bankart Lesions, Bony|Bankart Lesions, Osseous|Bankart Tears|Bony Bankart Lesion|Bony Bankart Lesions|Fractures, Bankart|Hill Sachs Lesion|Hill-Sachs Lesion|Hill Sachs Lesions|Hill-Sachs Lesions|Lesion, Bankart|Lesion, Bony Bankart|Lesion, Hill-Sachs|Lesion, Osseous Bankart|Lesions, Bankart|Lesions, Bony Bankart|Lesions, Hill-Sachs|Lesions, Osseous Bankart|Osseous Bankart Lesion|Osseous Bankart Lesions|Tears, Bankart Wounds and injuries Banki Syndrome MESH:C566228 MESH:D006228|MESH:D013580 C05.116.099.370.894/C566228|C05.390.408/C566228|C05.660.585.988.425/C566228|C05.660.906/C566228|C16.131.621.585.988.500/C566228|C16.131.621.906/C566228 C05.116.099.370.894|C05.390.408|C05.660.585.988.425|C05.660.906|C16.131.621.585.988.500|C16.131.621.906 Congenital abnormality|Musculoskeletal disease Bantu siderosis MESH:C537904 MESH:D000756 C15.378.071.419/C537904|C15.378.190.625.070/C537904 C15.378.071.419|C15.378.190.625.070 African iron overload|Hereditary iron overload and African Americans|Iron overload in Africa Blood disease Baraitser Brett Piesowicz syndrome MESH:C537905 MESH:D001927|MESH:D002114|MESH:D008831 C05.660.207.620/C537905|C10.228.140/C537905|C10.500.507.400.500/C537905|C16.131.621.207.620/C537905|C16.131.666.507.400.500/C537905|C18.452.174.130/C537905 C05.660.207.620|C10.228.140|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C18.452.174.130 Microcephaly intracranial calcification Congenital abnormality|Metabolic disease|Musculoskeletal disease|Nervous system disease Baraitser Rodeck Garner syndrome MESH:C537906 MESH:D002971|MESH:D002972|MESH:D003103|MESH:D003398|MESH:D008607|MESH:D012640|MESH:D052177 C05.116.099.370.894.232/C537906|C05.500.460.185/C537906|C05.660.207.240/C537906|C05.660.207.540.460.185/C537906|C05.660.906.364/C537906|C07.320.440.185/C537906|C07.465.409.225/C537906|C07.465.525.164/C537906|C07.465.525.185/C537906|C07.650.500.460.185/C537906|C07.650.525.164/C537906|C07.650.525.185/C537906|C10.597.606.360/C537906|C10.597.742/C537906|C11.250.110/C537906|C11.270.147/C537906|C12.050.351.968.419.403/C537906|C12.200.777.419.403/C537906|C12.950.419.403/C537906|C16.131.384.282/C537906|C16.131.621.207.240/C537906|C16.131.621.207.540.460.185/C537906|C16.131.621.906.364/C537906|C16.131.850.500.460.185/C537906|C16.131.850.525.164/C537906|C16.131.850.525.185/C537906|C23.888.592.604.646/C537906|C23.888.592.742/C537906|F03.625.539/C537906 C05.116.099.370.894.232|C05.500.460.185|C05.660.207.240|C05.660.207.540.460.185|C05.660.906.364|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C10.597.606.360|C10.597.742|C11.250.110|C11.270.147|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.384.282|C16.131.621.207.240|C16.131.621.207.540.460.185|C16.131.621.906.364|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C23.888.592.604.646|C23.888.592.742|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) BARAITSER-WINTER SYNDROME 1 OMIM:243310 DO:DOID:0081112 MESH:C565258 C05.660.207/C565258/243310|C10.228.140.490/C565258/243310|C10.500.507.450.499/C565258/243310|C10.597.606.360/C565258/243310|C16.131.621.207/C565258/243310|C16.131.666.507.450.499/C565258/243310|C23.550.291.812/C565258/243310|C23.888.592.604.646/C565258/243310|F03.625.539/C565258/243310 C05.660.207/C565258|C10.228.140.490/C565258|C10.500.507.450.499/C565258|C10.597.606.360/C565258|C16.131.621.207/C565258|C16.131.666.507.450.499/C565258|C23.550.291.812/C565258|C23.888.592.604.646/C565258|F03.625.539/C565258 BRWS1|CEREBROFRONTOFACIAL SYNDROME|CEREBROOCULOFACIAL LYMPHATIC SYNDROME|CHROMOSOME 7p22 DELETION SYNDROME|COFLS|FRYNS-AFTIMOS SYNDROME|IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION|MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES|PACHYGYRIA, MENTAL RETARDATION, EPILEPSY, AND CHARACTERISTIC FACIES Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms BARAITSER-WINTER SYNDROME 2 OMIM:614583 DO:DOID:0081113 MESH:C565258 C05.660.207/C565258/614583|C10.228.140.490/C565258/614583|C10.500.507.450.499/C565258/614583|C10.597.606.360/C565258/614583|C16.131.621.207/C565258/614583|C16.131.666.507.450.499/C565258/614583|C23.550.291.812/C565258/614583|C23.888.592.604.646/C565258/614583|F03.625.539/C565258/614583 C05.660.207/C565258|C10.228.140.490/C565258|C10.500.507.450.499/C565258|C10.597.606.360/C565258|C16.131.621.207/C565258|C16.131.666.507.450.499/C565258|C23.550.291.812/C565258|C23.888.592.604.646/C565258|F03.625.539/C565258 BRWS2 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Barakat syndrome MESH:C537907 DO:DOID:0060878|OMIM:146255 MESH:D006319|MESH:D007011|MESH:D009401 C09.218.458.341.887/C537907|C10.597.751.418.341.887/C537907|C12.050.351.968.419.630/C537907|C12.200.777.419.630/C537907|C12.950.419.630/C537907|C19.642.482/C537907|C23.888.592.763.393.341.887/C537907 C09.218.458.341.887|C10.597.751.418.341.887|C12.050.351.968.419.630|C12.200.777.419.630|C12.950.419.630|C19.642.482|C23.888.592.763.393.341.887 BARAKAT SYNDROME|HDR|HDRS|HDR syndrome|Hypoparathyroidism, Sensorineural Deafness, And Renal Disease|HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME|Nephrosis, nerve deafness, and hypoparathyroidism Ear-nose-throat disease|Endocrine system disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Barber Say syndrome MESH:C537908 DO:DOID:0060549|OMIM:209885 MESH:D005141|MESH:D006628|MESH:D006972|MESH:D006983|MESH:D008265|MESH:D012868 C05.116.099.370.231.480/C537908|C05.660.207.231.480/C537908|C07.465.525.480/C537908|C07.650.525.480/C537908|C11.338/C537908|C16.131.621.207.231.480/C537908|C16.131.831/C537908|C16.131.850.525.480/C537908|C17.800.329.750/C537908|C17.800.329.875/C537908|C17.800.804/C537908|C23.888.971.468/C537908 C05.116.099.370.231.480|C05.660.207.231.480|C07.465.525.480|C07.650.525.480|C11.338|C16.131.621.207.231.480|C16.131.831|C16.131.850.525.480|C17.800.329.750|C17.800.329.875|C17.800.804|C23.888.971.468 Barber-Say Syndrome|BBRSAY|BSS|Hypertrichosis, atrophic skin, ectropion, and macrostomia Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Signs and symptoms|Skin disease Bardet-Biedl Syndrome MESH:D020788 DO:DOID:1935 An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8) MESH:D000072661|MESH:D007027|MESH:D012174 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 C10.228.140.617|C11.270.684|C16.131.077.245|C16.320.184 Bardet Biedl Syndrome|Laurence Moon Bardet Biedl Syndrome|Laurence-Moon-Bardet-Biedl Syndrome|Syndrome, Bardet-Biedl|Syndrome, Laurence-Moon-Bardet-Biedl Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl syndrome 1 MESH:C537909 DO:DOID:0110123|OMIM:209900 MESH:D020788 C10.228.140.617.200/C537909|C11.270.684.624/C537909|C16.131.077.245.125/C537909|C16.320.184.125/C537909 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS1 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl Syndrome 10 MESH:C565919 DO:DOID:0110132|OMIM:615987 MESH:D020788 C10.228.140.617.200/C565919|C11.270.684.624/C565919|C16.131.077.245.125/C565919|C16.320.184.125/C565919 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS10 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl Syndrome 11 MESH:C565920 DO:DOID:0110133|OMIM:615988 MESH:D020788 C10.228.140.617.200/C565920|C11.270.684.624/C565920|C16.131.077.245.125/C565920|C16.320.184.125/C565920 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS11 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl Syndrome 12 MESH:C565921 DO:DOID:0110134|OMIM:615989 MESH:D020788 C10.228.140.617.200/C565921|C11.270.684.624/C565921|C16.131.077.245.125/C565921|C16.320.184.125/C565921 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS12 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl Syndrome 13 MESH:C567140 DO:DOID:0110135|OMIM:615990 MESH:D020788 C10.228.140.617.200/C567140|C11.270.684.624/C567140|C16.131.077.245.125/C567140|C16.320.184.125/C567140 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS13 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl Syndrome 14 MESH:C567141 DO:DOID:0110136|OMIM:615991 MESH:D020788 C10.228.140.617.200/C567141|C11.270.684.624/C567141|C16.131.077.245.125/C567141|C16.320.184.125/C567141 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS14 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease BARDET-BIEDL SYNDROME 15 OMIM:615992 DO:DOID:0110137 MESH:D020788 C10.228.140.617.200/615992|C11.270.684.624/615992|C16.131.077.245.125/615992|C16.320.184.125/615992 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS15 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease BARDET-BIEDL SYNDROME 16 OMIM:615993 DO:DOID:0110138 MESH:D020788 C10.228.140.617.200/615993|C11.270.684.624/615993|C16.131.077.245.125/615993|C16.320.184.125/615993 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS16 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease BARDET-BIEDL SYNDROME 17 OMIM:615994 DO:DOID:0110139 MESH:D020788 C10.228.140.617.200/615994|C11.270.684.624/615994|C16.131.077.245.125/615994|C16.320.184.125/615994 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS17 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease BARDET-BIEDL SYNDROME 18 OMIM:615995 DO:DOID:0110140 MESH:D020788 C10.228.140.617.200/615995|C11.270.684.624/615995|C16.131.077.245.125/615995|C16.320.184.125/615995 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS18 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease BARDET-BIEDL SYNDROME 19 OMIM:615996 DO:DOID:0110141 MESH:D020788 C10.228.140.617.200/615996|C11.270.684.624/615996|C16.131.077.245.125/615996|C16.320.184.125/615996 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS19 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl syndrome 2 MESH:C537910 DO:DOID:0110124|OMIM:615981 MESH:D020788 C10.228.140.617.200/C537910|C11.270.684.624/C537910|C16.131.077.245.125/C537910|C16.320.184.125/C537910 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS2 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease BARDET-BIEDL SYNDROME 21 OMIM:617406 DO:DOID:0081010 MESH:D020788 C10.228.140.617.200/617406|C11.270.684.624/617406|C16.131.077.245.125/617406|C16.320.184.125/617406 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS21 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease BARDET-BIEDL SYNDROME 22 OMIM:617119 DO:DOID:0081011 MESH:D020788 C10.228.140.617.200/617119|C11.270.684.624/617119|C16.131.077.245.125/617119|C16.320.184.125/617119 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BARDET-BIEDL SYNDROME 20, FORMERLY|BBS20, FORMERLY|BBS22 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl syndrome 3 MESH:C537911 DO:DOID:0110125|OMIM:600151 MESH:D020788 C10.228.140.617.200/C537911|C11.270.684.624/C537911|C16.131.077.245.125/C537911|C16.320.184.125/C537911 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS3 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl syndrome 4 MESH:C537912 DO:DOID:0110126|OMIM:615982 MESH:D020788 C10.228.140.617.200/C537912|C11.270.684.624/C537912|C16.131.077.245.125/C537912|C16.320.184.125/C537912 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS4 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease BARDET-BIEDL SYNDROME 5 OMIM:615983 DO:DOID:0110127 MESH:D020788 C10.228.140.617.200/615983|C11.270.684.624/615983|C16.131.077.245.125/615983|C16.320.184.125/615983 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS5 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl Syndrome 6 MESH:C565738 DO:DOID:0110128|OMIM:605231 MESH:D020788 C10.228.140.617.200/C565738|C11.270.684.624/C565738|C16.131.077.245.125/C565738|C16.320.184.125/C565738 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS6 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl Syndrome 7 MESH:C565916 DO:DOID:0110129|OMIM:615984 MESH:D020788 C10.228.140.617.200/C565916|C11.270.684.624/C565916|C16.131.077.245.125/C565916|C16.320.184.125/C565916 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS7 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl Syndrome 8 MESH:C565917 DO:DOID:0110130|OMIM:615985 MESH:D020788 C10.228.140.617.200/C565917|C11.270.684.624/C565917|C16.131.077.245.125/C565917|C16.320.184.125/C565917 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS8 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bardet-Biedl Syndrome 9 MESH:C565918 DO:DOID:0110131|OMIM:615986 MESH:D020788 C10.228.140.617.200/C565918|C11.270.684.624/C565918|C16.131.077.245.125/C565918|C16.320.184.125/C565918 C10.228.140.617.200|C11.270.684.624|C16.131.077.245.125|C16.320.184.125 BBS9 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Bare lymphocyte syndrome 2 MESH:C537079 OMIM:209920 MESH:D016511 C16.320.798.750/C537079|C16.614.815/C537079|C18.452.284.800/C537079|C20.673.795.750/C537079 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 BARE LYMPHOCYTE SYNDROME|Bare lymphocyte syndrome type 2|Bare Lymphocyte Syndrome, Type II|BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B, INCLUDED|BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C, INCLUDED|BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D, INCLUDED|BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E, INCLUDED|BLS|BLS Type II|BLS, TYPE II|SCID, HLA Class 2-Negative|SCID, HLA Class II-Negative|SCID, HLA CLASS II-NEGATIVE BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A, INCLUDED|Severe combined immunodeficiency, HLA class ii-negative Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Bare Lymphocyte Syndrome, Type I MESH:C565759 OMIM:604571 MESH:D016511 C16.320.798.750/C565759|C16.614.815/C565759|C18.452.284.800/C565759|C20.673.795.750/C565759 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 BLS, Type I|HLA Class I Deficiency Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Bare Lymphocyte Syndrome, Type II, Complementation Group A MESH:C565910 MESH:D016511 C16.320.798.750/C565910|C16.614.815/C565910|C18.452.284.800/C565910|C20.673.795.750/C565910 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 Bare Lymphocyte Syndrome, Type II, Complementation Group B|Bare Lymphocyte Syndrome, Type II, Complementation Group C|Bare Lymphocyte Syndrome, Type II, Complementation Group D|Bare Lymphocyte Syndrome, Type II, Complementation Group E Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Baritosis MESH:C537080 DO:DOID:10321 MESH:D011009 C08.381.483.581/C537080|C08.381.520.702/C537080|C24.800/C537080 C08.381.483.581|C08.381.520.702|C24.800 Deposition of barium in the lungs|Inhalation of barytes Occupational disease|Respiratory tract disease Barlow syndrome MESH:C537478 MESH:D008945 C14.280.484.400.500/C537478 C14.280.484.400.500 Mitral regurgitation, familial|Mitral valve prolapse, familial, X-linked|Myxomatous valvular disease, familial Cardiovascular disease Barophobia MESH:C000719194 MESH:D010698 F03.080.725/C000719194 F03.080.725 Fear of gravity|Phobia, gravity Mental disorder Barotrauma MESH:D001469 Injury following pressure changes; includes injury to the eustachian tube, ear drum, lung and stomach. MESH:D014947 C26.120 C26 Barotraumas Wounds and injuries Barrett Esophagus MESH:D001471 DO:DOID:9206|OMIM:614266 A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus. MESH:D004935|MESH:D011230 C04.834.154|C06.405.117.102 C04.834|C06.405.117 Barrett Epithelium|Barrett Metaplasia|BARRETT METAPLASIA ADENOCARCINOMA OF ESOPHAGUS, INCLUDED|Barrett Metaplasias|Barrett's Esophagus|Barretts Esophagus|Barrett's Syndrome|Barretts Syndrome|Barrett Syndrome|Epithelium, Barrett|Esophagus, Barrett|Esophagus, Barrett's|Metaplasia, Barrett|Metaplasias, Barrett Cancer|Digestive system disease Barth Syndrome MESH:D056889 DO:DOID:0050476|OMIM:302060 Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist. MESH:D000015|MESH:D006330|MESH:D008052|MESH:D040181 C14.240.400.172|C14.280.400.172|C16.131.077.121|C16.131.240.400.172|C16.320.322.068|C16.320.565.398.224|C18.452.584.563.224|C18.452.648.398.224 C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.320.322|C16.320.565.398|C18.452.584.563|C18.452.648.398 3 Methylglutaconicaciduria Type 2|3-Methylglutaconicaciduria Type 2|3-Methylglutaconicaciduria Type 2s|3-Methylglutaconicaciduria Type II|3 Methylglutaconic Aciduria, Type II|3-Methylglutaconic Aciduria, Type II|3-Methylglutaconicaciduria Type IIs|BTHS|Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria|MGA2|MGA Type 2|MGA Type 2s|MGA Type II|MGA, TYPE II|MGA Type IIs|MGCA2|Syndrome, Barth|Type 2, 3-Methylglutaconicaciduria|Type 2, MGA|Type 2s, MGA|Type II, MGA|Type IIs, MGA Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Metabolic disease Bartonellaceae Infections MESH:D001476 Infections with bacteria of the family BARTONELLACEAE. MESH:D016905 C01.150.252.400.126 C01.150.252.400 Bartonellaceae Infection|Infection, Bartonellaceae|Infections, Bartonellaceae Bacterial infection or mycosis Bartonella Infections MESH:D001474 DO:DOID:11102 Infections by the genus BARTONELLA. Bartonella bacilliformis can cause acute febrile anemia, designated Oroya fever, and a benign skin eruption, called verruga peruana. BARTONELLA QUINTANA causes TRENCH FEVER, while BARTONELLA HENSELAE is the etiologic agent of bacillary angiomatosis (ANGIOMATOSIS, BACILLARY) and is also one of the causes of CAT-SCRATCH DISEASE. MESH:D001476 C01.150.252.400.126.100 C01.150.252.400.126 Bartonella bacilliformis Infection|Bartonella bacilliformis Infections|Bartonella Infection|Bartonelloses|Bartonellosis|Carrion Disease|Carrion's Disease|Disease, Carrion|Disease, Carrion's|Fever, Oroya|Infection, Bartonella|Infection, Bartonella bacilliformis|Infection, Rochalimaea|Infections, Bartonella|Infections, Rochalimaea|Oroya Fever|Rochalimaea Infection|Rochalimaea Infections|Verruga Peruana Bacterial infection or mycosis Bartter Syndrome MESH:D001477 DO:DOID:445 A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS. MESH:D006929|MESH:D015499 C12.050.351.968.419.815.279|C12.200.777.419.815.279|C12.950.419.815.279|C19.053.800.604.249 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C19.053.800.604 Aldosteronism with Hyperplasia of the Adrenal Cortex|Bartter Disease|Bartter's Disease|Bartters Disease|Bartter's Syndrome|Bartters Syndrome|Juxtaglomerular Hyperplasia with Secondary Aldosteronism|Syndrome, Bartter|Syndrome, Bartter's Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Bartter syndrome, antenatal type 1 MESH:C537652 OMIM:601678 MESH:D001477 C12.050.351.968.419.815.279/C537652|C12.200.777.419.815.279/C537652|C12.950.419.815.279/C537652|C19.053.800.604.249/C537652 C12.050.351.968.419.815.279|C12.200.777.419.815.279|C12.950.419.815.279|C19.053.800.604.249 Antenatal Bartter syndrome type 1|BARTS1|Bartter Syndrome, Antenatal, Type 1|BARTTER SYNDROME, TYPE 1, ANTENATAL|Hyperprostaglandin E syndrome 1|HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL|Hypokalemic alkalosis with hypercalciuria, antenatal|Hypokalemic Alkalosis With Hypercalciuria, Antenatal, 1 Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Bartter syndrome, antenatal , type 2 MESH:C537651 OMIM:241200 MESH:D001477 C12.050.351.968.419.815.279/C537651|C12.200.777.419.815.279/C537651|C12.950.419.815.279/C537651|C19.053.800.604.249/C537651 C12.050.351.968.419.815.279|C12.200.777.419.815.279|C12.950.419.815.279|C19.053.800.604.249 BARTS2|Bartter Syndrome, Antenatal, Type 2|BARTTER SYNDROME, TYPE 2, ANTENATAL|Hyperprostaglandin E syndrome 2|HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL|Hypokalemic alkalosis with hypercalciuria, antenatal 2|Hypokalemic Alkalosis With Hypercalciuria, Antenatal, 2 Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Bartter syndrome, type 3 MESH:C537653 OMIM:607364 MESH:D001477 C12.050.351.968.419.815.279/C537653|C12.200.777.419.815.279/C537653|C12.950.419.815.279/C537653|C19.053.800.604.249/C537653 C12.050.351.968.419.815.279|C12.200.777.419.815.279|C12.950.419.815.279|C19.053.800.604.249 BARTS3|Bartter syndrome, classic|BARTTER SYNDROME, CLASSIC BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Bartter Syndrome, Type 3, with Hypocalciuria MESH:C564578 MESH:D001477 C12.050.351.968.419.815.279/C564578|C12.200.777.419.815.279/C564578|C12.950.419.815.279/C564578|C19.053.800.604.249/C564578 C12.050.351.968.419.815.279|C12.200.777.419.815.279|C12.950.419.815.279|C19.053.800.604.249 Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Bartter Syndrome, Type 4A MESH:C566530 OMIM:602522 MESH:D001477|MESH:D006319 C09.218.458.341.887/C566530|C10.597.751.418.341.887/C566530|C12.050.351.968.419.815.279/C566530|C12.200.777.419.815.279/C566530|C12.950.419.815.279/C566530|C19.053.800.604.249/C566530|C23.888.592.763.393.341.887/C566530 C09.218.458.341.887|C10.597.751.418.341.887|C12.050.351.968.419.815.279|C12.200.777.419.815.279|C12.950.419.815.279|C19.053.800.604.249|C23.888.592.763.393.341.887 BARTS4A|BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS;BSND SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, INCLUDED|BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS Ear-nose-throat disease|Endocrine system disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Bartter Syndrome, Type 4b MESH:C567762 OMIM:613090 MESH:D001477|MESH:D006319 C09.218.458.341.887/C567762|C10.597.751.418.341.887/C567762|C12.050.351.968.419.815.279/C567762|C12.200.777.419.815.279/C567762|C12.950.419.815.279/C567762|C19.053.800.604.249/C567762|C23.888.592.763.393.341.887/C567762 C09.218.458.341.887|C10.597.751.418.341.887|C12.050.351.968.419.815.279|C12.200.777.419.815.279|C12.950.419.815.279|C19.053.800.604.249|C23.888.592.763.393.341.887 BARTS4B|Bartter Syndrome, Infantile, with Sensorineural Deafness|BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS Ear-nose-throat disease|Endocrine system disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT OMIM:300971 DO:DOID:0110147 MESH:D001477 C12.050.351.968.419.815.279/300971|C12.200.777.419.815.279/300971|C12.950.419.815.279/300971|C19.053.800.604.249/300971 C12.050.351.968.419.815.279|C12.200.777.419.815.279|C12.950.419.815.279|C19.053.800.604.249 BARTS5 Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Basal cell carcinoma, infundibulocystic MESH:C537655 MESH:D002280 C04.557.470.200.165/C537655|C04.557.470.565.165/C537655 C04.557.470.200.165|C04.557.470.565.165 Basal cell carcinoma with follicular differentiation|Infundibulocystic basal cell carcinoma Cancer Basal cell carcinoma, multiple MESH:C537656 MESH:D002280|MESH:D006223 C04.445.435/C537656|C04.557.470.200.165/C537656|C04.557.470.565.165/C537656|C04.651.435/C537656|C04.700.435/C537656|C16.320.700.435/C537656 C04.445.435|C04.557.470.200.165|C04.557.470.565.165|C04.651.435|C04.700.435|C16.320.700.435 Multiple basal cell carcinoma Cancer|Genetic disease (inborn) Basal Cell Carcinoma, Nonsyndromic MESH:C567789 MESH:D002280 C04.557.470.200.165/C567789|C04.557.470.565.165/C567789 C04.557.470.200.165|C04.557.470.565.165 Cancer Basal Cell Nevus Syndrome MESH:D001478 DO:DOID:2512|OMIM:109400 Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant. MESH:D000015|MESH:D001848|MESH:D002280|MESH:D009386|MESH:D009807 C04.182.089.530.690.150|C04.557.470.200.165.150|C04.557.470.565.165.150|C04.700.175|C05.116.099.105|C05.500.470.690.150|C07.320.450.670.130|C16.131.077.130|C16.320.700.175 C04.182.089.530.690|C04.557.470.200.165|C04.557.470.565.165|C04.700|C05.116.099|C05.500.470.690|C07.320.450.670|C16.131.077|C16.320.700 BASAL CELL NEVUS SYNDROME|BASAL CELL NEVUS SYNDROME 1|BCNS|BCNS1|Fifth Phacomatoses|Fifth Phacomatosis|Gorlin Goltz Syndrome|Gorlin-Goltz Syndrome|Gorlin Syndrome|Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies|NBCCS|Nevoid Basal Cell Carcinoma Syndrome|Nevus Syndrome, Basal Cell|Syndrome, Gorlin|Syndrome, Gorlin-Goltz Cancer|Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Basal ganglia calcification, idiopathic 2 MESH:C537657 MESH:D001480|MESH:D002114 C10.228.140.079/C537657|C18.452.174.130/C537657 C10.228.140.079|C18.452.174.130 Basal Ganglia Calcification, Idiopathic, 2 Metabolic disease|Nervous system disease BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 OMIM:615007 DO:DOID:0060230 MESH:D001480|MESH:D002114 C10.228.140.079/615007|C18.452.174.130/615007 C10.228.140.079|C18.452.174.130 IBGC4 Metabolic disease|Nervous system disease BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 OMIM:615483 DO:DOID:0060230 MESH:D001480|MESH:D002114 C10.228.140.079/615483|C18.452.174.130/615483 C10.228.140.079|C18.452.174.130 IBGC5 Metabolic disease|Nervous system disease BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 OMIM:616413 MESH:D001480|MESH:D002114 C10.228.140.079/616413|C18.452.174.130/616413 C10.228.140.079|C18.452.174.130 IBGC6 Metabolic disease|Nervous system disease Basal Ganglia Cerebrovascular Disease MESH:D020144 DO:DOID:10991 A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA), such as INFARCTION; HEMORRHAGE; or ISCHEMIA in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (DYSKINESIAS) and muscle weakness (HEMIPARESIS). MESH:D001480|MESH:D002561 C10.228.140.079.127|C10.228.140.300.100|C14.907.253.061 C10.228.140.079|C10.228.140.300|C14.907.253 Basal Ganglia Vascular Disease|Cerebrovascular Disease, Basal Ganglia|Lenticulostriate Diseases, Vascular|Lenticulostriate Vascular Disease|Lenticulostriate Vascular Diseases|Lenticulostriate Vasculopathies|Lenticulostriate Vasculopathy|Vascular Disease, Basal Ganglia|Vascular Disease, Lenticulostriate|Vascular Diseases, Basal Ganglia|Vascular Diseases, Lenticulostriate|Vascular Lenticulostriate Diseases|Vasculopathies, Lenticulostriate|Vasculopathy, Lenticulostriate Cardiovascular disease|Nervous system disease Basal ganglia disease, biotin-responsive MESH:C537658 DO:DOID:0050659|OMIM:607483 MESH:D001480 C10.228.140.079/C537658 C10.228.140.079 BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE|BBGD|Biotin-responsive basal ganglia disease|BTBGD|ENCEPHALOPATHY, THIAMINE-RESPONSIVE|THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE)|THMD2 Nervous system disease Basal Ganglia Diseases MESH:D001480 DO:DOID:679 Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA. MESH:D001927 C10.228.140.079 C10.228.140 Basal Ganglia Disease|Basal Ganglia Disorder|Basal Ganglia Disorders|Extrapyramidal Disorder|Extrapyramidal Disorders|Lenticulostriate Disorder|Lenticulostriate Disorders Nervous system disease Basal Ganglia Hemorrhage MESH:D020145 Bleeding within the subcortical regions of cerebral hemispheres (BASAL GANGLIA). It is often associated with HYPERTENSION or ARTERIOVENOUS MALFORMATIONS. Clinical manifestations may include HEADACHE; DYSKINESIAS; and HEMIPARESIS. MESH:D002543|MESH:D020144 C10.228.140.079.127.500|C10.228.140.300.100.200|C10.228.140.300.535.200.150|C14.907.253.061.200|C14.907.253.573.200.150|C23.550.414.913.100.200 C10.228.140.079.127|C10.228.140.300.100|C10.228.140.300.535.200|C14.907.253.061|C14.907.253.573.200|C23.550.414.913.100 Basal Ganglionic Hemorrhage|Ganglionic Hemorrhage, Basal|Hematoma, Basal Ganglia|Hemorrhage, Basal Ganglia|Hemorrhage, Basal Ganglionic Cardiovascular disease|Nervous system disease|Pathology (process) Basal Laminar Drusen MESH:C563034 DO:DOID:0060746|OMIM:126700 MESH:D015593|MESH:D015785 C11.270/C563034|C11.768.585.585/C563034|C16.320.290/C563034 C11.270|C11.768.585.585|C16.320.290 Drusen, Cuticular|Drusen, Early Adult-Onset, Grouped|Drusen of Bruch Membrane Eye disease|Genetic disease (inborn) Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant MESH:C565284 MESH:D006222|MESH:D012873 C04.445/C565284|C16.320.850/C565284|C17.800.827/C565284 C04.445|C16.320.850|C17.800.827 Cancer|Genetic disease (inborn)|Skin disease Basan syndrome MESH:C537659 DO:DOID:0080725|OMIM:129200 MESH:D004476|MESH:D009264 C16.131.077.350/C537659|C16.131.831.350/C537659|C16.320.850.250/C537659|C17.800.804.350/C537659|C17.800.827.250/C537659|C23.300.820/C537659 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.300.820 ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITAL CONTRACTURES, AND NAIL ABNORMALITIES|ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE|Ectodermal dysplasia absent dermatoglyphics Congenital abnormality|Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease Basaran Yilmaz syndrome MESH:C537660 OMIM:104100 MESH:D007039|MESH:D007645|MESH:D009260|MESH:D010859 C16.320.850.475/C537660|C17.800.329.937/C537660|C17.800.428.435/C537660|C17.800.529/C537660|C17.800.621/C537660|C17.800.827.475/C537660|C23.550.755/C537660 C16.320.850.475|C17.800.329.937|C17.800.428.435|C17.800.529|C17.800.621|C17.800.827.475|C23.550.755 Keratoderma, hypotrichosis and leukonychia totalis|KERATODERMA-HYPOTRICHOSIS-LEUKONYCHIA TOTALIS SYNDROME|PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1|PPKCA1|PPKCA, STEVANOVIC TYPE Genetic disease (inborn)|Pathology (process)|Skin disease BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME OMIM:616449 MESH:D002972|MESH:D003394|MESH:D005124|MESH:D008607|MESH:D008831|MESH:D011596 C05.116.099.370.231/616449|C05.500.460.185/616449|C05.660.207.231/616449|C05.660.207.540.460.185/616449|C05.660.207.620/616449|C07.320.440.185/616449|C07.465.525.185/616449|C07.650.500.460.185/616449|C07.650.525.185/616449|C10.500.507.400.500/616449|C10.597.606.360/616449|C10.597.606.881/616449|C11.250/616449|C16.131.384/616449|C16.131.621.207.231/616449|C16.131.621.207.540.460.185/616449|C16.131.621.207.620/616449|C16.131.666.507.400.500/616449|C16.131.850.500.460.185/616449|C16.131.850.525.185/616449|C23.888.592.604.646/616449|C23.888.592.604.882/616449|F03.625.539/616449 C05.116.099.370.231|C05.500.460.185|C05.660.207.231|C05.660.207.540.460.185|C05.660.207.620|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.500.507.400.500|C10.597.606.360|C10.597.606.881|C11.250|C16.131.384|C16.131.621.207.231|C16.131.621.207.540.460.185|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.850.500.460.185|C16.131.850.525.185|C23.888.592.604.646|C23.888.592.604.882|F03.625.539 BVSYS Congenital abnormality|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Basilar Impression, Primary MESH:C566226 MESH:D010985 C05.116.099.742/C566226|C05.116.900.540/C566226|C05.660.207.720/C566226|C16.131.621.207.720/C566226 C05.116.099.742|C05.116.900.540|C05.660.207.720|C16.131.621.207.720 Congenital abnormality|Musculoskeletal disease Bassoe syndrome MESH:C537661 MESH:D002386|MESH:D007006|MESH:D009136 C05.651.534.500/C537661|C10.668.491.175.500/C537661|C11.510.245/C537661|C16.320.577/C537661|C19.391.482/C537661 C05.651.534.500|C10.668.491.175.500|C11.510.245|C16.320.577|C19.391.482 Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Battaglia Neri syndrome MESH:C537662 MESH:D001848|MESH:D004827|MESH:D008607|MESH:D008831 C05.116.099/C537662|C05.660.207.620/C537662|C10.228.140.490/C537662|C10.500.507.400.500/C537662|C10.597.606.360/C537662|C16.131.621.207.620/C537662|C16.131.666.507.400.500/C537662|C23.888.592.604.646/C537662|F03.625.539/C537662 C05.116.099|C05.660.207.620|C10.228.140.490|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Battered Child Syndrome MESH:D001497 A clinical condition resulting from repeated physical and psychological injuries inflicted on a child by the parents or caregivers. MESH:D040921 F03.950.750.124 F03.950.750 Battered Child Syndromes|Child Syndrome, Battered|Child Syndromes, Battered|Nonaccidental Trauma in Children|Syndrome, Battered Child|Syndromes, Battered Child Mental disorder Bazex-Dupre-Christol syndrome MESH:C537663 OMIM:301845 MESH:D002280|MESH:D007039|MESH:D012878 C04.557.470.200.165/C537663|C04.557.470.565.165/C537663|C04.588.805/C537663|C17.800.329.937/C537663|C17.800.882/C537663 C04.557.470.200.165|C04.557.470.565.165|C04.588.805|C17.800.329.937|C17.800.882 Bazex syndrome|BDCS|BZX|Follicular atrophoderma and basal cell carcinomas|Follicular atrophoderma-basal cell carcinoma syndrome|Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome Cancer|Skin disease Bazopoulou Kyrkanidou syndrome MESH:C537664 MESH:D001848|MESH:D003394|MESH:D005884 C05.116.099.370.231/C537664|C05.116.099/C537664|C05.660.207.231/C537664|C07.465.625.446/C537664|C07.465.714.258.250/C537664|C16.131.621.207.231/C537664|C23.550.414.922.500/C537664 C05.116.099|C05.116.099.370.231|C05.660.207.231|C07.465.625.446|C07.465.714.258.250|C16.131.621.207.231|C23.550.414.922.500 Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process) B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY OMIM:616452 MESH:C564707 C15.378.553.475.604/C564707/616452 C15.378.553.475.604/C564707 BENTA Blood disease B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations MESH:C563745 MESH:D000081207|MESH:D014564|MESH:D017880|MESH:D019465 C05.660.207/C563745|C05.660.585/C563745|C12.050.351.875/C563745|C12.200.706/C563745|C12.800/C563745|C16.131.621.207/C563745|C16.131.621.585/C563745|C16.131.939/C563745|C16.320.798/C563745|C20.673.795/C563745 C05.660.207|C05.660.585|C12.050.351.875|C12.200.706|C12.800|C16.131.621.207|C16.131.621.585|C16.131.939|C16.320.798|C20.673.795 BILU Syndrome Congenital abnormality|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) BCG and Salmonella Infection, Disseminated MESH:C565908 MESH:D009165 C01.150.252.410.040.552.475/C565908 C01.150.252.410.040.552.475 Bacterial infection or mycosis BCG Infection, Generalized Familial MESH:C565907 MESH:D009165 C01.150.252.410.040.552.475/C565907 C01.150.252.410.040.552.475 Bacterial infection or mycosis BCG Infection, Generalized Familial Semibenign, Autosomal Dominant MESH:C565909 MESH:D009165 C01.150.252.410.040.552.475/C565909 C01.150.252.410.040.552.475 Bacterial infection or mycosis Beardwell syndrome MESH:C537665 MESH:D004057|MESH:D015776 C05.116.540.410/C537665|C05.116.900.815.651/C537665|C16.320.850.475.440/C537665|C17.800.428.435.440/C537665|C17.800.827.475.440/C537665 C05.116.540.410|C05.116.900.815.651|C16.320.850.475.440|C17.800.428.435.440|C17.800.827.475.440 Familial ankylosing vertebral hyperostosis with tylosis Genetic disease (inborn)|Musculoskeletal disease|Skin disease BEAULIEU-BOYCOTT-INNES SYNDROME OMIM:613680 MESH:D002658|MESH:D006330|MESH:D008607|MESH:D008831|MESH:D014564|MESH:D019066 C05.660.207.620/613680|C10.500.507.400.500/613680|C10.597.606.360/613680|C12.050.351.875/613680|C12.200.706/613680|C12.800/613680|C14.240.400/613680|C14.280.400/613680|C16.131.240.400/613680|C16.131.621.207.620/613680|C16.131.666.507.400.500/613680|C16.131.939/613680|C23.550.291.812/613680|C23.888.592.604.646/613680|F03.625.421/613680|F03.625.539/613680 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C12.050.351.875|C12.200.706|C12.800|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.939|C23.550.291.812|C23.888.592.604.646|F03.625.421|F03.625.539 BBIS|MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Becker Nevus Syndrome MESH:C565735 MESH:D009506|MESH:D012878 C04.557.665.560/C565735|C04.588.805/C565735|C17.800.882/C565735 C04.557.665.560|C04.588.805|C17.800.882 Cancer|Skin disease Beckwith-Wiedemann Syndrome MESH:D001506 DO:DOID:5572|OMIM:130650 A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. MESH:D000015|MESH:D025063 C16.131.077.133|C16.131.260.080|C16.320.180.080 C16.131.077|C16.131.260|C16.320.180 Beckwith Wiedemann Syndrome|BWCR, INCLUDED|BWS|EMG Syndrome|EMG Syndromes|Exomphalos Macroglossia Gigantism Syndrome|Exomphalos-Macroglossia-Gigantism Syndrome|Exomphalos-Macroglossia-Gigantism Syndromes|Syndrome, Beckwith-Wiedemann|Syndrome, EMG|Syndrome, Exomphalos-Macroglossia-Gigantism|Syndrome, Wiedemann|Syndrome, Wiedemann-Beckwith|Syndrome, Wiedemann-Beckwith (WBS)|Wiedemann Beckwith Syndrome|Wiedemann-Beckwith Syndrome|Wiedemann-Beckwith Syndromes (WBS)|Wiedemann Beckwith Syndrome (WBS)|Wiedemann-Beckwith Syndrome (WBS)|WIEDEMANN-BECKWITH SYNDROME;WBS BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED|Wiedemann Syndrome|Wiedemann Syndromes Congenital abnormality|Genetic disease (inborn) Beemer Ertbruggen syndrome MESH:C537668 MESH:D006330|MESH:D006849|MESH:D019066 C10.228.140.602/C537668|C14.240.400/C537668|C14.280.400/C537668|C16.131.240.400/C537668|C23.550.291.812/C537668 C10.228.140.602|C14.240.400|C14.280.400|C16.131.240.400|C23.550.291.812 Beemer lethal malformation syndrome Cardiovascular disease|Congenital abnormality|Nervous system disease|Pathology (process) Behcet Syndrome MESH:D001528 DO:DOID:13241|OMIM:109650 Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well. MESH:D009059|MESH:D014606|MESH:D014657|MESH:D017445|MESH:D056660 C07.465.075|C11.941.879.780.880.200|C14.907.940.100|C16.320.382.250|C17.800.827.368.250|C17.800.862.150 C07.465|C11.941.879.780.880|C14.907.940|C16.320.382|C17.800.827.368|C17.800.862 Adamantiades Behcet Disease|Adamantiades-Behcet Disease|Adamantiades-Behcet Diseases|BD|Behcet Disease|Behçet Disease|Behçet Diseases|Behcet's Disease|Behcet's Syndrome|Behcet Triple Symptom Complex|Old Silk Route Disease|Symptom Complex, Triple|Triple Symptom Complex|Triple-Symptom Complex|Triple Symptom Complices Cardiovascular disease|Eye disease|Genetic disease (inborn)|Mouth disease|Skin disease Behrens Baumann Dust syndrome MESH:C537670 MESH:D002526|MESH:D008850 C10.228.140.252/C537670|C11.250.566/C537670|C16.131.384.666/C537670 C10.228.140.252|C11.250.566|C16.131.384.666 Oculo-cerebral dysplasia Congenital abnormality|Eye disease|Nervous system disease Behr syndrome MESH:C537669 DO:DOID:0111580|OMIM:210000 MESH:D001259|MESH:D008607|MESH:D009896|MESH:D013035|MESH:D034381 C09.218.458.341/C537669|C10.292.700.225/C537669|C10.597.350.090/C537669|C10.597.606.360/C537669|C10.597.613.750/C537669|C10.597.751.418.341/C537669|C11.640.451/C537669|C23.888.592.350.090/C537669|C23.888.592.604.646/C537669|C23.888.592.608.750/C537669|C23.888.592.763.393.341/C537669|F03.625.539/C537669 C09.218.458.341|C10.292.700.225|C10.597.350.090|C10.597.606.360|C10.597.613.750|C10.597.751.418.341|C11.640.451|C23.888.592.350.090|C23.888.592.604.646|C23.888.592.608.750|C23.888.592.763.393.341|F03.625.539 BEHRS|Optic atrophy, infantile hereditary, Behr complicated form of|Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Bellini Chiumello Rimoldi syndrome MESH:C535652 MESH:D001848|MESH:D006130|MESH:D008607 C05.116.099/C535652|C10.597.606.360/C535652|C23.550.393/C535652|C23.888.592.604.646/C535652|F03.625.539/C535652 C05.116.099|C10.597.606.360|C23.550.393|C23.888.592.604.646|F03.625.539 Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Bell Palsy MESH:D020330 DO:DOID:12506 A syndrome characterized by the acute onset of unilateral FACIAL PARALYSIS which progresses over a 2-5 day period. Weakness of the orbicularis oculi muscle and resulting incomplete eye closure may be associated with corneal injury. Pain behind the ear often precedes the onset of paralysis. This condition may be associated with HERPESVIRUS 1, HUMAN infection of the facial nerve. (Adams et al., Principles of Neurology, 6th ed, p1376) MESH:D005155|MESH:D006566|MESH:D009059 C01.925.256.466.087|C07.465.094|C07.465.299.250|C10.292.319.250 C01.925.256.466|C07.465|C07.465.299|C10.292.319 Acute Idiopathic Facial Neuropathy|Acute Inflammatory Facial Neuropathy|Bell Palsies|Bell's Palsies|Bell's Palsy|Bells Palsy|Facial Neuropathy, Idiopathic Acute|Facial Neuropathy, Inflammatory, Acute|Facial Paralyses, Herpetic|Facial Paralyses, Idiopathic|Facial Paralysis, Herpetic|Facial Paralysis, Idiopathic|Herpetic Facial Paralyses|Herpetic Facial Paralysis|Idiopathic Acute Facial Neuropathy|Idiopathic Facial Paralyses|Idiopathic Facial Paralysis|Inflammatory Facial Neuropathy, Acute|Palsies, Bell|Palsies, Bell's|Palsy, Bell|Palsy, Bell's|Paralyses, Herpetic Facial|Paralyses, Idiopathic Facial|Paralysis, Herpetic Facial|Paralysis, Idiopathic Facial Mouth disease|Nervous system disease|Viral disease Belonephobia MESH:C000719195 MESH:D010698 F03.080.725/C000719195 F03.080.725 Aichmophobia|Fear of injections|Fear of needles|Fear of needles or injections|Fear of needles or pointed objects|Phobia, injections|Phobia, needles|Phobia, pointed objects|Trypanophobia Mental disorder Ben Ari Shuper Mimouni syndrome MESH:C535427 MESH:D000015|MESH:D061085 C10.500.034/C535427|C16.131.077/C535427|C16.131.666.034/C535427|C23.300.008/C535427 C10.500.034|C16.131.077|C16.131.666.034|C23.300.008 Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Benign essential blepharospasm MESH:C535428 OMIM:606798 MESH:D001764 C11.338.250/C535428 C11.338.250 Blepharospasm, Benign Essential|BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO|Essential Blepharospasm|Eyelid Twitching|Primary Blepharospasm|Spasm of Eyelids Eye disease Benign non-infected urachal cyst MESH:C531841 MESH:D014496 C04.182.946/C531841 C04.182.946 Giant urachal cyst|Infected urachal cyst|Inflamed urachal cyst Cancer Benign Paroxysmal Positional Vertigo MESH:D065635 DO:DOID:13941|OMIM:193007 Idiopathic recurrent VERTIGO associated with POSITIONAL NYSTAGMUS. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in LABYRINTHITIS and VESTIBULAR NEURONITIS, inflammation in the ear is not observed. MESH:D014717 C09.218.568.900.883.500|C10.597.951.500|C23.888.592.958.500 C09.218.568.900.883|C10.597.951|C23.888.592.958 Benign Recurrent Vertigo|Benign Recurrent Vertigos|BPPV|BRV|BRV1, INCLUDED|Familial Benign Recurrent Vertigo|Familial Vestibulopathies|Familial Vestibulopathy|Recurrent Vertigo, Benign|Recurrent Vertigos, Benign|Vertigo, Benign Paroxysmal Positional|Vertigo, Benign Recurrent|Vestibulopathies, Familial|Vestibulopathy, Familial|VESTIBULOPATHY, FAMILIAL VERTIGO, BENIGN RECURRENT, 1, INCLUDED Ear-nose-throat disease|Nervous system disease|Signs and symptoms Benign Pseudohypertrophic Muscular Dystrophy MESH:C570377 MESH:D020388 C05.651.534.500.300/C570377|C10.668.491.175.500.300/C570377|C16.320.322.562/C570377|C16.320.577.300/C570377 C05.651.534.500.300|C10.668.491.175.500.300|C16.320.322.562|C16.320.577.300 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease BENT BONE DYSPLASIA SYNDROME 1 OMIM:614592 DO:DOID:10591 MESH:D001848 C05.116.099/614592 C05.116.099 BBDS|BBDS1 Musculoskeletal disease Beriberi MESH:D001602 DO:DOID:13725 A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed) MESH:D013832 C18.654.521.500.133.699.827.223 C18.654.521.500.133.699.827 Nutrition disorder Berk-Tabatznik syndrome MESH:C535432 MESH:D006130|MESH:D015418|MESH:D059327 C05.660.585.262/C535432|C10.292.700.225.500/C535432|C10.574.500.662/C535432|C11.270.564/C535432|C11.640.451.451/C535432|C16.131.621.585.262/C535432|C16.320.290.564/C535432|C16.320.400.630/C535432|C23.550.393/C535432 C05.660.585.262|C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.131.621.585.262|C16.320.290.564|C16.320.400.630|C23.550.393 Berk Tabatznik syndrome|Cleft nare, brachydactyly, short stature-dwarfism|Congenital optic atrophy and brachytelephalangy|Kyphosis brachyphalangy optic atrophy Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process) Bernard-Soulier Syndrome MESH:D001606 DO:DOID:2217|OMIM:231200 A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption. MESH:D001791|MESH:D006474|MESH:D025861 C15.378.100.100.080|C15.378.140.120|C15.378.463.080|C16.320.099.080 C15.378.100.100|C15.378.140|C15.378.463|C16.320.099 BDPLT1|Bernard Soulier Syndrome|BERNARD-SOULIER SYNDROME, TYPE B, INCLUDED|BERNARD-SOULIER SYNDROME, TYPE C, INCLUDED|BLEEDING DISORDER, PLATELET-TYPE, 1|BSS|Deficiency of Platelet Glycoprotein 1b|Giant Platelet Syndrome|Glycoprotein Ib, Platelet, Deficiency Of|Platelet Glycoprotein 1b, Deficiency of|Platelet Glycoprotein Ib Deficiency|Platelet Syndromes, Giant|Syndrome, Bernard-Soulier|Syndrome, Giant Platelet|Syndromes, Giant Platelet|Von Willebrand Factor Receptor Deficiency|VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY BERNARD-SOULIER SYNDROME, TYPE A1, INCLUDED Blood disease|Genetic disease (inborn) Bernard-Soulier Syndrome, Autosomal Dominant MESH:C567696 MESH:D001606 C15.378.100.100.080/C567696|C15.378.140.120/C567696|C15.378.463.080/C567696|C16.320.099.080/C567696 C15.378.100.100.080|C15.378.140.120|C15.378.463.080|C16.320.099.080 Blood disease|Genetic disease (inborn) Bernard-Soulier Syndrome, Type A MESH:C565548 MESH:D001606 C15.378.100.100.080/C565548|C15.378.140.120/C565548|C15.378.463.080/C565548|C16.320.099.080/C565548 C15.378.100.100.080|C15.378.140.120|C15.378.463.080|C16.320.099.080 Blood disease|Genetic disease (inborn) BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT OMIM:153670 DO:DOID:0111059 MESH:D001606 C15.378.100.100.080/153670|C15.378.140.120/153670|C15.378.463.080/153670|C16.320.099.080/153670 C15.378.100.100.080|C15.378.140.120|C15.378.463.080|C16.320.099.080 BSSA2 Blood disease|Genetic disease (inborn) Bernard-Soulier Syndrome, Type B MESH:C565549 MESH:D001606 C15.378.100.100.080/C565549|C15.378.140.120/C565549|C15.378.463.080/C565549|C16.320.099.080/C565549 C15.378.100.100.080|C15.378.140.120|C15.378.463.080|C16.320.099.080 Blood disease|Genetic disease (inborn) Bernard-Soulier Syndrome, Type C MESH:C565550 MESH:D001606 C15.378.100.100.080/C565550|C15.378.140.120/C565550|C15.378.463.080/C565550|C16.320.099.080/C565550 C15.378.100.100.080|C15.378.140.120|C15.378.463.080|C16.320.099.080 Blood disease|Genetic disease (inborn) Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification MESH:C565905 MESH:D002114|MESH:D002532|MESH:D011656 C08.381.495.389.750/C565905|C10.228.140.300.510.600/C565905|C14.907.055.635/C565905|C14.907.253.560.300/C565905|C18.452.174.130/C565905|C23.550.291.500.875.875/C565905 C08.381.495.389.750|C10.228.140.300.510.600|C14.907.055.635|C14.907.253.560.300|C18.452.174.130|C23.550.291.500.875.875 Cerebral Aneurysm-Cirrhosis Syndrome Cardiovascular disease|Metabolic disease|Nervous system disease|Pathology (process)|Respiratory tract disease Berylliosis MESH:D001607 DO:DOID:10322 A form of pneumoconiosis caused by inhaled rare metal BERYLLIUM or its soluble salts which are used in a wide variety of industry including alloys, ceramics, radiographic equipment, and vacuum tubes. Berylliosis is characterized by an acute inflammatory reaction in the upper airway leading to BRONCHIOLITIS; PULMONARY EDEMA; and pneumonia. MESH:D011009 C08.381.483.581.225|C08.381.520.702.225|C24.800.225 C08.381.483.581|C08.381.520.702|C24.800 Beryllioses|Beryllium Disease Occupational disease|Respiratory tract disease Bestrophinopathy MESH:C567518 DO:DOID:0050662 MESH:D012164|MESH:D015785 C11.270/C567518|C11.768/C567518|C16.320.290/C567518 C11.270|C11.768|C16.320.290 Eye disease|Genetic disease (inborn) BESTROPHINOPATHY, AUTOSOMAL RECESSIVE OMIM:611809 DO:DOID:0050662 MESH:D012164 C11.768/611809 C11.768 ARB Eye disease Best Vitelliform Macular Dystrophy, Multifocal MESH:C567187 MESH:D057826 C11.768.585.439.433/C567187|C16.320.290.763/C567187 C11.768.585.439.433|C16.320.290.763 Eye disease|Genetic disease (inborn) BETA-AMINO ACIDS, RENAL TRANSPORT OF OMIM:109660 MESH:D004314|MESH:D004827 C10.228.140.490/109660|C10.597.606.360.220/109660|C16.131.077.327/109660|C16.131.260.260/109660|C16.320.180.260/109660 C10.228.140.490|C10.597.606.360.220|C16.131.077.327|C16.131.260.260|C16.320.180.260 AABT|TAURINE RENAL REABSORPTION Congenital abnormality|Genetic disease (inborn)|Nervous system disease Beta-Aminoisobutyric Acid, Urinary Excretion of MESH:C565904 MESH:D000592 C16.320.565.100/C565904|C18.452.648.100/C565904 C16.320.565.100|C18.452.648.100 BAIB Urinary Excretion|Hyper-Beta-Aminoisobutyric Aciduria Genetic disease (inborn)|Metabolic disease Beta-Hydroxyisobutyryl CoA Deacylase Deficiency MESH:C562803 OMIM:250620 MESH:D000015|MESH:D000592 C16.131.077/C562803|C16.320.565.100/C562803|C18.452.648.100/C562803 C16.131.077|C16.320.565.100|C18.452.648.100 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency|BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY|HIBCHD|HIBCH Deficiency|Methacrylic Acid Toxicity|Methacrylic Aciduria|Valine Metabolic Defect Congenital abnormality|Genetic disease (inborn)|Metabolic disease Beta ketothiolase deficiency MESH:C535434 OMIM:203750 MESH:D000592 C16.320.565.100/C535434|C18.452.648.100/C535434 C16.320.565.100|C18.452.648.100 2-Alpha-Methyl-3-Hydroxybutyricacidemia|2-methyl-3-hydroxybutyricacidemia|2-Methyl-3-Hydroxybutyric Acidemia|3-Alpha-Ketothiolase Deficiency|3-Alpha-Ktd Deficiency|3-Alpha-Oxothiolase Deficiency|3-ketothiolase deficiency|3-KTD DEFICIENCY|3-Methylhydroxybutyric Acidemia|3-oxothiolase deficiency|Alpha-methylacetoaceticaciduria|Alpha-Methylacetoacetic Aciduria|Beta-Ketothiolase Deficiency|B-Ketothiolase Deficiency|MAT DEFICIENCY|Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated|Mitochondrial Acetoacetyl-CoA Thiolase deficiency|T2 Deficiency Genetic disease (inborn)|Metabolic disease beta-Mannosidosis MESH:D044905 DO:DOID:3633|OMIM:248510 An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation. MESH:D044904 C16.320.565.202.607.750|C16.320.565.595.577.750|C18.452.648.202.607.750|C18.452.648.595.577.750 C16.320.565.202.607|C16.320.565.595.577|C18.452.648.202.607|C18.452.648.595.577 beta-Mannosidase Deficiencies|beta Mannosidase Deficiency|beta-Mannosidase Deficiency|beta-Mannosidoses|beta Mannosidosis|BETA-MANNOSIDOSIS|Lysosomal beta A Mannosidosis|Lysosomal beta-Mannosidase Deficiencies|Lysosomal beta Mannosidase Deficiency|Lysosomal beta-Mannosidase Deficiency|Mannosidosis, beta A, Lysosomal|MANSB Genetic disease (inborn)|Metabolic disease Beta-sarcoglycanopathy MESH:C535435 MESH:D049288 C05.651.534.500.280/C535435|C10.668.491.175.500.149/C535435|C16.320.577.280/C535435 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease beta-Thalassemia MESH:D017086 DO:DOID:12241|OMIM:613985 A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent. MESH:D013789 C15.378.071.141.150.875.150|C15.378.420.826.150|C16.320.070.875.150|C16.320.365.826.150 C15.378.071.141.150.875|C15.378.420.826|C16.320.070.875|C16.320.365.826 Anemia, Cooley|Anemia, Cooley's|Anemia, Cooleys|Anemia, Erythroblastic|Anemia, Mediterranean|Anemias, Erythroblastic|Anemias, Mediterranean|beta Thalassemia|beta Thalassemias|beta Type Microcytemia|beta Type Microcytemias|beta Type Thalassemia|beta Type Thalassemias|Cooley's Anemia|Disease, Hemoglobin F|Erythroblastic Anemia|Hemoglobin F Disease|Intermedias, Thalassemia|Intermedia, Thalassemia|Majors, Thalassemia (beta-Thalassemia Major)|Major, Thalassemia (beta-Thalassemia Major)|Mediterranean Anemia|Mediterranean Anemias|Microcytemia, beta Type|Microcytemias, beta Type|Minors, Thalassemia (beta-Thalassemia Minor)|Minor, Thalassemia (beta-Thalassemia Minor)|Thalassemia, beta|Thalassemia, beta Type|Thalassemia Intermedia|Thalassemia Intermedias|Thalassemia Major|Thalassemia Major (beta Thalassemia Major)|Thalassemia Major (beta-Thalassemia Major)|Thalassemia Majors (beta-Thalassemia Major)|Thalassemia Minor|Thalassemia Minor (beta Thalassemia Minor)|Thalassemia Minor (beta-Thalassemia Minor)|Thalassemia Minors (beta-Thalassemia Minor)|Thalassemias, beta|Thalassemias, beta Type|Type Microcytemia, beta|Type Microcytemias, beta|Type Thalassemia, beta|Type Thalassemias, beta Blood disease|Genetic disease (inborn) Beta Thalassemia, Dominant Inclusion Body Type MESH:C565834 OMIM:603902 MESH:D017086 C15.378.071.141.150.875.150/C565834|C15.378.420.826.150/C565834|C16.320.070.875.150/C565834|C16.320.365.826.150/C565834 C15.378.071.141.150.875.150|C15.378.420.826.150|C16.320.070.875.150|C16.320.365.826.150 BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE|Dyserythropoietic Anemia, Congenital, Irish or Weatherall Type Blood disease|Genetic disease (inborn) Beta-Ureidopropionase Deficiency MESH:C563210 OMIM:613161 MESH:D000015|MESH:D001927|MESH:D009069|MESH:D011686 C10.228.140/C563210|C10.228.662/C563210|C16.131.077/C563210|C16.320.565.798/C563210|C18.452.648.798/C563210 C10.228.140|C10.228.662|C16.131.077|C16.320.565.798|C18.452.648.798 UPB1D Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease Bethlem myopathy MESH:C535436 DO:DOID:0050663|OMIM:158810|OMIM:616471 MESH:D003286|MESH:D009136 C05.550.323/C535436|C05.651.197/C535436|C05.651.534.500/C535436|C10.668.491.175.500/C535436|C16.320.577/C535436 C05.550.323|C05.651.197|C05.651.534.500|C10.668.491.175.500|C16.320.577 Benign Congenital Muscular Dystrophy|Benign Congenital Myopathy with Contractures|BETHLEM MYOPATHY|BETHLEM MYOPATHY 1|BETHLEM MYOPATHY 2|BTHLM1|BTHLM2|EDS, MYOPATHIC TYPE|EDSMYP|EHLERS-DANLOS SYNDROME, MYOPATHIC TYPE|LGMDD5|Muscular dystrophy, benign congenital|MUSCULAR DYSTROPHY, BENIGN CONGENITAL MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 5|Myopathy, benign congenital, with contractures Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Bezoars MESH:D001630 Concretions of swallowed hair, fruit or vegetable fibers, or similar substances found in the alimentary canal. MESH:D005547 C26.392.183 C26.392 Ball, Hair|Balls, Hair|Bezoar|Hair Ball|Hair Balls|Trichobezoar|Trichobezoars Wounds and injuries Bhaskar Jagannathan syndrome MESH:C535437 MESH:D001259|MESH:D002386|MESH:D006130|MESH:D054119 C05.660.585.174/C535437|C10.597.350.090/C535437|C11.510.245/C535437|C16.131.621.585.174/C535437|C23.550.393/C535437|C23.888.592.350.090/C535437 C05.660.585.174|C10.597.350.090|C11.510.245|C16.131.621.585.174|C23.550.393|C23.888.592.350.090 Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Bicornuate Uterus MESH:D000093663 A congenital uterine anomaly in which the UTERUS is divided into two uterine horns with a significant cleft at the uterine fundus due to partial fusion of the MULLERIAN DUCTS. Bicornuate uterus is sometimes associated with a longitudinal vaginal septum and abnormal development of renal tracts. MESH:D000093662 C12.050.351.500.852.667.250 C12.050.351.500.852.667 Bicolli, Bicornuate|Bicollis, Bicornuate|Bicollis Uterus, Bicornuate|Bicornuate Bicolli|Bicornuate Bicollis|Bicornuate Bicollis Uterus|Bicornuate Unicollis|Bicornuate Unicollis Uterus|Double Uterus and Longitudinal Vaginal Septum|Unicollis, Bicornuate|Unicollis Uterus, Bicornuate|Uterus, Bicornuate Bicollis|Uterus, Bicornuate Unicollis Urogenital disease (female) Bicuspid Aortic Valve Disease MESH:D000082882 DO:DOID:0080332 Congenital heart valve defects where the AORTIC VALVE has two instead of normal three cusps. It is often associated with AORTIC REGURGITATION and AORTIC INSUFFICIENCY. MESH:D000082862|MESH:D006330 C14.240.400.186|C14.280.400.186|C14.280.484.048.875|C16.131.240.400.186 C14.240.400|C14.280.400|C14.280.484.048|C16.131.240.400 Aortic Valve, Bicuspid|Aortic Valve Disease 1|Bicuspid Aortic Valve|Bicuspid Aortic Valves|Bicuspid Aortic Valve, Single Raphe|Bicuspid Aortic Valve, Two Raphe|Bicuspid Aortic Valve, Two-Raphe|Double Raphe Bicuspid Aortic Valve|Purely Bicuspid Aortic Valve|Single Raphe Bicuspid Aortic Valve|Two Raphe Bicuspid Aortic Valve|Two-Raphe Bicuspid Aortic Valve|Valve, Bicuspid Aortic Cardiovascular disease|Congenital abnormality Bidirectional tachycardia MESH:C535438 MESH:D013610 C14.280.067.845/C535438|C14.280.123.875/C535438|C23.550.073.845/C535438 C14.280.067.845|C14.280.123.875|C23.550.073.845 Bidirectional ventricular tachycardia Cardiovascular disease|Pathology (process) Biemond syndrome II MESH:C565902 MESH:D003103|MESH:D007006|MESH:D008607|MESH:D009765|MESH:D017689 C05.660.585.600/C565902|C10.597.606.360/C565902|C11.250.110/C565902|C11.270.147/C565902|C16.131.384.282/C565902|C16.131.621.585.600/C565902|C18.654.726.750.500/C565902|C19.391.482/C565902|C23.888.144.699.500/C565902|C23.888.592.604.646/C565902|F03.625.539/C565902 C05.660.585.600|C10.597.606.360|C11.250.110|C11.270.147|C16.131.384.282|C16.131.621.585.600|C18.654.726.750.500|C19.391.482|C23.888.144.699.500|C23.888.592.604.646|F03.625.539 Biemond syndrome type 2 Congenital abnormality|Endocrine system disease|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Nutrition disorder|Signs and symptoms Bietti Crystalline Dystrophy MESH:C535440 OMIM:210370 MESH:D003317|MESH:D012164 C11.204.236/C535440|C11.270.162/C535440|C11.768/C535440|C16.320.290.162/C535440 C11.204.236|C11.270.162|C11.768|C16.320.290.162 BCD|Bietti Crystalline Corneoretinal Dystrophy|BIETTI CRYSTALLINE DYSTROPHY|Bietti Crystalline Retinopathy|Bietti's crystalline corneoretinal dystrophy|Bietti's crystalline dystrophy|Bietti tapetoretinal degeneration with marginal corneal dystrophy Eye disease|Genetic disease (inborn) Bifid nose MESH:C535441 MESH:D009668 C08.460/C535441|C09.603/C535441 C08.460|C09.603 Bifid Nose, Autosomal Dominant|Bifid Nose, Autosomal Recessive|Median fissure of nose|Nose, median cleft of Ear-nose-throat disease|Respiratory tract disease Bifid Nose With Or Without Anorectal And Renal Anomalies MESH:C567672 OMIM:608980 MESH:D007674|MESH:D012002 C06.405.469.860/C567672|C12.050.351.968.419/C567672|C12.200.777.419/C567672|C12.950.419/C567672 C06.405.469.860|C12.050.351.968.419|C12.200.777.419|C12.950.419 BNAR Digestive system disease|Urogenital disease (female)|Urogenital disease (male) Bifidobacteriales Infections MESH:D039941 Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae. MESH:D016908 C01.150.252.410.110 C01.150.252.410 Bifidobacteriales Infection|Infection, Bifidobacteriales|Infections, Bifidobacteriales Bacterial infection or mycosis Bilateral Kienbock's disease MESH:C538558 MESH:D010020 C05.116.852/C538558|C23.550.717.732/C538558 C05.116.852|C23.550.717.732 Musculoskeletal disease|Pathology (process) Bilateral Optic Nerve Meningioma MESH:C000608854 DO:DOID:6335 MESH:D008579|MESH:D019574 C04.557.580.520/C000608854|C04.557.645.520/C000608854|C04.588.614.250.580.500/C000608854|C04.588.614.300.600/C000608854|C04.588.614.596.240.240/C000608854|C10.292.225.800/C000608854|C10.292.700.500/C000608854|C10.551.240.500.500/C000608854|C10.551.360.500/C000608854|C10.551.775.250.500/C000608854|C11.640.544/C000608854 C04.557.580.520|C04.557.645.520|C04.588.614.250.580.500|C04.588.614.300.600|C04.588.614.596.240.240|C10.292.225.800|C10.292.700.500|C10.551.240.500.500|C10.551.360.500|C10.551.775.250.500|C11.640.544 Bilateral Meningioma of the Optic Nerve Cancer|Eye disease|Nervous system disease Bilateral temporal lobe disorder MESH:C538521 MESH:D020232 C10.228.140.380.326/C538521|F03.615.400.431/C538521 C10.228.140.380.326|F03.615.400.431 Memory loss, extreme sexual behavior, placidity, and visual distractibility|Post-encephalitic Kluver Bucy syndrome|Post-traumatic Kluver Bucy syndrome Mental disorder|Nervous system disease Bilateral Vestibulopathy MESH:D000071699 Impairment of the vestibular function of both inner ears which can cause difficulties with balance, gait, VERTIGO, and visual blurring. MESH:D009461|MESH:D015837 C09.218.568.900.442|C10.597.057|C23.888.592.057 C09.218.568.900|C10.597|C23.888.592 Bilateral Vestibular Deficiency|Bilateral Vestibular Insufficiency|Bilateral Vestibular Loss|Vestibular Areflexia|Vestibular Deficiency, Bilateral|Vestibular Insufficiency, Bilateral|Vestibular Loss, Bilateral|Vestibulopathy, Bilateral Ear-nose-throat disease|Nervous system disease|Signs and symptoms Bile Acid Malabsorption, Primary MESH:C567652 OMIM:613291 MESH:D003967|MESH:D045602 C06.405.469.637.887/C567652|C18.452.603.887/C567652|C23.888.821.214/C567652 C06.405.469.637.887|C18.452.603.887|C23.888.821.214 BILE ACID MALABSORPTION, PRIMARY, 1|PBAM|PBAM1 Digestive system disease|Metabolic disease|Signs and symptoms Bile acid synthesis defect, congenital, 1 MESH:C535442 DO:DOID:0111071|OMIM:607765 MESH:D002779|MESH:D043202 C06.130.120.135/C535442|C16.320.565.925/C535442|C18.452.648.925/C535442 C06.130.120.135|C16.320.565.925|C18.452.648.925 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency|3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of|CBAS1|Cholestasis, progressive familial intrahepatic 4|Congenital Bile Acid Synthesis Defect Type 1 (CBAS1)|PFIC4 Progressive familial intrahepatic cholestasis type 4|Progressive familial intrahepatic cholestasis 4 Digestive system disease|Genetic disease (inborn)|Metabolic disease Bile acid synthesis defect, congenital, 2 MESH:C535443 DO:DOID:0111069|OMIM:235555 MESH:D002779|MESH:D043202 C06.130.120.135/C535443|C16.320.565.925/C535443|C18.452.648.925/C535443 C06.130.120.135|C16.320.565.925|C18.452.648.925 CBAS2|Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|Congenital Bile Acid Synthesis Defect Type 2 (CBAS2) Digestive system disease|Genetic disease (inborn)|Metabolic disease Bile Acid Synthesis Defect, Congenital, 3 MESH:C566340 DO:DOID:0111070|OMIM:613812 MESH:D002779|MESH:D043202 C06.130.120.135/C566340|C16.320.565.925/C566340|C18.452.648.925/C566340 C06.130.120.135|C16.320.565.925|C18.452.648.925 CBAS3|Congenital Bile Acid Synthesis Defect Type 3 (CBAS3) Digestive system disease|Genetic disease (inborn)|Metabolic disease Bile acid synthesis defect, congenital, 4 MESH:C535444 DO:DOID:0111068|OMIM:214950 MESH:D002780|MESH:D018901 C06.130.120.135.250/C535444|C06.552.150/C535444|C16.320.565.663/C535444|C18.452.648.663/C535444 C06.130.120.135.250|C06.552.150|C16.320.565.663|C18.452.648.663 Cbas4|Cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid|Trihydroxycoprostanic acid in bile Digestive system disease|Genetic disease (inborn)|Metabolic disease BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 OMIM:616278 DO:DOID:0111066 MESH:D043202 C16.320.565.925/616278|C18.452.648.925/616278 C16.320.565.925|C18.452.648.925 CBAS5 Genetic disease (inborn)|Metabolic disease BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 OMIM:617308 DO:DOID:0111067 MESH:D043202 C16.320.565.925/617308|C18.452.648.925/617308 C16.320.565.925|C18.452.648.925 CBAS6 Genetic disease (inborn)|Metabolic disease Bile and Pancreatic Ducts, Complete Absence of MESH:C564298 MESH:D000013 C16.131/C564298 C16.131 Congenital abnormality Bile Duct Diseases MESH:D001649 DO:DOID:4138 Diseases in any part of the ductal system of the BILIARY TRACT from the smallest BILE CANALICULI to the largest COMMON BILE DUCT. MESH:D001660 C06.130.120 C06.130 Bile Duct Disease|Disease, Bile Duct|Diseases, Bile Duct|Duct Disease, Bile|Duct Diseases, Bile Digestive system disease Bile Duct Neoplasms MESH:D001650 DO:DOID:4606|DO:DOID:4897 Tumors or cancer of the BILE DUCTS. MESH:D001649|MESH:D001661 C04.588.274.120.250|C06.130.120.120|C06.130.320.120|C06.301.120.250 C04.588.274.120|C06.130.120|C06.130.320|C06.301.120 Bile Duct Cancer|Bile Duct Cancers|Bile Duct Neoplasm|Cancer, Bile Duct|Cancer of Bile Duct|Cancer of the Bile Duct|Cancers, Bile Duct|Neoplasm, Bile Duct|Neoplasms, Bile Duct Cancer|Digestive system disease Bile Reflux MESH:D001655 DO:DOID:12237 Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS. MESH:D001660|MESH:D004383 C06.130.140|C06.405.748.240.140 C06.130|C06.405.748.240 Reflux, Bile Digestive system disease Biliary Atresia MESH:D001656 DO:DOID:13608 Progressive destruction or the absence of all or part of the extrahepatic BILE DUCTS, resulting in the complete obstruction of BILE flow. Usually, biliary atresia is found in infants and accounts for one third of the neonatal cholestatic JAUNDICE. MESH:D001649|MESH:D004065 C06.130.120.123|C06.198.125|C16.131.314.125 C06.130.120|C06.198|C16.131.314 Atresia, Biliary|Atresia, Extrahepatic Biliary|Atresia, Intrahepatic Biliary|Biliary Atresia, Extrahepatic|Biliary Atresia, Intrahepatic|Extrahepatic Biliary Atresia|Familial Extrahepatic Biliary Atresia|Idiopathic Extrahepatic Biliary Atresia|Intrahepatic Biliary Atresia Congenital abnormality|Digestive system disease Biliary Cirrhosis, Primary, 2 MESH:C567817 OMIM:613007 MESH:D008105 C06.130.120.135.250.250/C567817|C06.552.150.250/C567817|C06.552.630.400/C567817|C23.550.355.412.400/C567817 C06.130.120.135.250.250|C06.552.150.250|C06.552.630.400|C23.550.355.412.400 PBC2 Digestive system disease|Pathology (process) Biliary Cirrhosis, Primary, 3 MESH:C567816 OMIM:613008 MESH:D008105 C06.130.120.135.250.250/C567816|C06.552.150.250/C567816|C06.552.630.400/C567816|C23.550.355.412.400/C567816 C06.130.120.135.250.250|C06.552.150.250|C06.552.630.400|C23.550.355.412.400 PBC3 Digestive system disease|Pathology (process) Biliary Dyskinesia MESH:D001657 DO:DOID:4140 A motility disorder characterized by biliary COLIC, absence of GALLSTONES, and an abnormal GALLBLADDER ejection fraction. It is caused by gallbladder dyskinesia and/or SPHINCTER OF ODDI DYSFUNCTION. MESH:D003137 C06.130.120.250.098 C06.130.120.250 Biliary Dyskinesias|Dyskinesia, Biliary|Dyskinesia, Gallbladder|Dyskinesias, Biliary|Dyskinesias, Gallbladder|Gallbladder Dyskinesia|Gallbladder Dyskinesias Digestive system disease Biliary Fistula MESH:D001658 Abnormal passage in any organ of the biliary tract or between biliary organs and other organs. MESH:D016154 C06.267.150|C23.300.575.185.150 C06.267|C23.300.575.185 Biliary Fistulas|Fistula, Biliary|Fistulas, Biliary Digestive system disease|Pathology (anatomical condition) Biliary Tract Diseases MESH:D001660 DO:DOID:9741 Diseases in any part of the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER. MESH:D004066 C06.130 C06 Biliary Tract Disease|Disease, Biliary Tract|Diseases, Biliary Tract|Tract Disease, Biliary|Tract Diseases, Biliary Digestive system disease Biliary Tract Neoplasms MESH:D001661 DO:DOID:4607 Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER. MESH:D001660|MESH:D004067 C04.588.274.120|C06.130.320|C06.301.120 C04.588.274|C06.130|C06.301 Biliary Tract Cancer|Biliary Tract Cancers|Biliary Tract Neoplasm|Cancer, Biliary Tract|Cancer of Biliary Tract|Cancer of the Biliary Tract|Cancers, Biliary Tract|Neoplasm, Biliary Tract|Neoplasms, Biliary Tract Cancer|Digestive system disease Binge Drinking MESH:D063425 Drinking an excessive amount of ALCOHOLIC BEVERAGES in a short period of time. MESH:D019973 C25.775.100.437|F03.900.100.550 C25.775.100|F03.900.100 Alcohol Consumption, Binge|Binge Alcohol Consumption|Drinking, Binge Mental disorder|Substance-related disorder Binge-Eating Disorder MESH:D056912 A disorder associated with three or more of the following: eating until feeling uncomfortably full; eating large amounts of food when not physically hungry; eating much more rapidly than normal; eating alone due to embarrassment; feeling of disgust, DEPRESSION, or guilt after overeating. Criteria includes occurrence on average, at least 2 days a week for 6 months. The binge eating is not associated with the regular use of inappropriate compensatory behavior (i.e. purging, excessive exercise, etc.) and does not co-occur exclusively with BULIMIA NERVOSA or ANOREXIA NERVOSA. (From DSM-IV, 1994) MESH:D001068 F03.400.188 F03.400 Binge Eating Disorder|Binge-Eating Disorders|Disorder, Binge-Eating|Disorders, Binge-Eating Mental disorder Biotin deficiency MESH:C531633 DO:DOID:0050810 MESH:D028921 C16.320.565.100.620.100/C531633|C16.320.565.202.720.100/C531633|C18.452.648.100.620.100/C531633|C18.452.648.202.720.100/C531633 C16.320.565.100.620.100|C16.320.565.202.720.100|C18.452.648.100.620.100|C18.452.648.202.720.100 Genetic disease (inborn)|Metabolic disease Biotinidase Deficiency MESH:D028921 DO:DOID:856|OMIM:253260 The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN. MESH:D009100 C16.320.565.100.620.100|C16.320.565.202.720.100|C18.452.648.100.620.100|C18.452.648.202.720.100 C16.320.565.100.620|C16.320.565.202.720|C18.452.648.100.620|C18.452.648.202.720 Biotinidase Deficiencies|BTD Deficiencies|BTD Deficiency|Carboxylase Deficiency, Multiple, Late-Onset|Deficiencies, Biotinidase|Deficiencies, BTD|Deficiency, Biotinidase|Deficiency, BTD|Deficiency, Multiple Carboxylase, Late-Onset|Late Onset Biotin Responsive Multiple Carboxylase Deficiency|Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency|Late Onset Multiple Carboxylase Deficiency|Late-Onset Multiple Carboxylase Deficiency|MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET|Multiple Carboxylase Deficiency, Late Onset|Multiple Carboxylase Deficiency, Late-Onset Genetic disease (inborn)|Metabolic disease bipartite patella MESH:C000721292 MESH:D001848 C05.116.099/C000721292 C05.116.099 bifid patella|double-layered patella Musculoskeletal disease Bipolar and Related Disorders MESH:D000068105 These disorders are related to both SCHIZOPHRENIA SPECTRUM AND OTHER PSYCHOTIC DISORDERS and DEPRESSIVE DISORDER in terms of symptomatology, family history, and genetics. (DSM-5). MESH:D019964 F03.600.150 F03.600 Mental disorder Bipolar Disorder MESH:D001714 DO:DOID:3312 A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. MESH:D000068105 F03.600.150.500 F03.600.150 Affective Psychosis, Bipolar|Bipolar Affective Psychosis|Bipolar Depression|Bipolar Disorders|Bipolar Disorder Type 1|Bipolar Disorder Type 2|Bipolar Mood Disorder|Bipolar Mood Disorders|Depression, Bipolar|Depression, Manic|Depressions, Manic|Disorder, Bipolar|Disorder, Bipolar Mood|Disorder, Manic|Manic Depression|Manic Depressive Psychosis|Manic-Depressive Psychosis|Manic Disorder|Manic Disorders|Mood Disorder, Bipolar|Psychoses, Bipolar Affective|Psychoses, Manic Depressive|Psychoses, Manic-Depressive|Psychosis, Bipolar Affective|Psychosis, Manic Depressive|Psychosis, Manic-Depressive|Type 1 Bipolar Disorder|Type 2 Bipolar Disorder Mental disorder Bird Diseases MESH:D001715 Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from POULTRY DISEASES which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc. MESH:D000820 C22.131 C22 Avian Disease|Avian Diseases|Bird Disease|Disease, Avian|Disease, Bird|Diseases, Avian|Diseases, Bird Animal disease Bird Fancier's Lung MESH:D001716 DO:DOID:13891 A form of alveolitis or pneumonitis due to an acquired hypersensitivity to inhaled avian antigens, usually proteins in the dust of bird feathers and droppings. MESH:D000542|MESH:D009784 C08.381.483.125.125|C08.674.055.125|C20.543.480.680.075.125|C24.125 C08.381.483.125|C08.674.055|C20.543.480.680.075|C24 Avian Hypersensitivity Pneumonitides|Avian Hypersensitivity Pneumonitis|Bird Fancier Lung|Bird Fanciers Lung|Bird Fancier's Lungs|Budgerigar Fancier Lung|Budgerigar Fancier's Lung|Budgerigar Fanciers Lung|Budgerigar Fancier's Lungs|Hypersensitivity Pneumonitides, Avian|Hypersensitivity Pneumonitis, Avian|Lung, Bird Fancier's|Lung, Budgerigar Fancier's|Lung, Pigeon Breeder's|Lungs, Bird Fancier's|Lungs, Budgerigar Fancier's|Lungs, Pigeon Breeder's|Pigeon Breeder Lung|Pigeon Breeder's Lung|Pigeon Breeders Lung|Pigeon Breeder's Lungs|Pneumonitides, Avian Hypersensitivity|Pneumonitis, Avian Hypersensitivity|Pneumonitis, Hypersensitivity, Avian Immune system disease|Occupational disease|Respiratory tract disease Bird headed dwarfism Montreal type MESH:C535448 MESH:D004392|MESH:D006201|MESH:D008844|MESH:D009667|MESH:D011371 C05.116.099.343/C535448|C05.500.460.457/C535448|C05.660.207.540.460.457/C535448|C07.320.440.457/C535448|C07.650.500.460.457/C535448|C08.460.619/C535448|C09.603.619/C535448|C16.131.621.207.540.460.457/C535448|C16.131.850.500.460.457/C535448|C16.320.240/C535448|C16.320.488.875/C535448|C16.320.565.753/C535448|C17.800.329/C535448|C18.452.648.753/C535448|C19.297/C535448 C05.116.099.343|C05.500.460.457|C05.660.207.540.460.457|C07.320.440.457|C07.650.500.460.457|C08.460.619|C09.603.619|C16.131.621.207.540.460.457|C16.131.850.500.460.457|C16.320.240|C16.320.488.875|C16.320.565.753|C17.800.329|C18.452.648.753|C19.297 Bird-Headed Dwarfism, Montreal Type|Bird-headed dwarfism with features of premature senility Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Mouth disease|Musculoskeletal disease|Respiratory tract disease|Skin disease Birdshot Chorioretinopathy MESH:D000080365 DO:DOID:0111079 A form of chorioretinitis characterized by multiple small, cream-colored LESIONS, symmetrically scattered mainly around the OPTIC DISK. These lesions are the most distinctive sign and often appear at the level of the RETINAL PIGMENT EPITHELIUM but, on occasion, suggest an even deeper infiltration and may ultimately lead to visual loss. An association with HLA-A29 antigen (see HLA-A ANTIGENS) has been observed in nearly all patients. MESH:D000080363|MESH:D001327|MESH:D002825 C11.768.773.348.500|C11.941.160.478.400.500|C11.941.879.780.900.300.318.500|C11.941.879.780.900.650.250|C20.111.303 C11.768.773.348|C11.941.160.478.400|C11.941.879.780.900.300.318|C11.941.879.780.900.650|C20.111 Birdshot Chorioretinitis|Birdshot Chorioretinopathies|Birdshot Retinochoroiditides|Birdshot Retinochoroiditis|Birdshot Retinochoroidopathies|Birdshot Retinochoroidopathy|Chorioretinitis, Birdshot|Chorioretinopathy, Birdshot|Retinochoroiditis, Birdshot|Retinochoroidopathy, Birdshot Eye disease|Immune system disease Birk-Barel Mental Retardation Dysmorphism Syndrome MESH:C567357 DO:DOID:0050675|OMIM:612292 MESH:D008607|MESH:D009123|MESH:D019465 C05.660.207/C567357|C10.597.606.360/C567357|C10.597.613.575/C567357|C16.131.621.207/C567357|C23.888.592.604.646/C567357|C23.888.592.608.575/C567357|F03.625.539/C567357 C05.660.207|C10.597.606.360|C10.597.613.575|C16.131.621.207|C23.888.592.604.646|C23.888.592.608.575|F03.625.539 BIBARS|Birk-Barel intellectual disability syndrome|BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME|Birk-Barel Syndrome|KCNK9 imprinting syndrome|Mental Retardation with Hypotonia and Facial Dysmorphism Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Birnaviridae Infections MESH:D018175 Virus diseases caused by the BIRNAVIRIDAE. MESH:D012327 C01.925.782.123 C01.925.782 Birnaviridae Infection|Infection, Birnaviridae|Infections, Birnaviridae Viral disease Birth Injuries MESH:D001720 Mechanical or anoxic trauma incurred by the infant during labor or delivery. MESH:D007232|MESH:D014947 C16.614.131|C26.141 C16.614|C26 Birth Injury|Injuries, Birth|Injury, Birth Infant-newborn disease|Wounds and injuries Birt-Hogg-Dube Syndrome MESH:D058249 DO:DOID:0050676|OMIM:135150 Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein). MESH:D009386 C04.700.212|C16.320.700.212 C04.700|C16.320.700 BHD|BHD1|Birt Hogg Dube Syndrome|Birt-Hogg-Dubé Syndrome|BIRT-HOGG-DUBE SYNDROME 1|Fibrofolliculomas with Trichodiscomas and Acrochordons|Hornstein-Birt-Hogg-Dubé Syndrome|Hornstein-Knickenberg Syndrome Cancer|Genetic disease (inborn) Birth Weight MESH:D001724 The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms. MESH:D001835 C23.888.144.186 C23.888.144 Birthweight|Birthweights|Birth Weights|Weight, Birth|Weights, Birth Signs and symptoms Bisphosphonate-Associated Osteonecrosis of the Jaw MESH:D059266 Necrotic jaws or other maxillofacial skeleton necrosis associated with bisphosphonate use (see BISPHOSPHONATES). Injury, dental procedures, and trauma can trigger the necrotic process. MESH:D007571|MESH:D010020 C05.116.852.087|C05.500.086|C07.320.086|C23.550.717.732.183 C05.116.852|C05.500|C07.320|C23.550.717.732 Bisphosphonate-Associated Osteonecroses|Bisphosphonate Associated Osteonecrosis|Bisphosphonate-Associated Osteonecrosis|Bisphosphonate Associated Osteonecrosis of the Jaw|Bisphosphonate Associated Osteonecrosis of the Jaws|Bisphosphonate-Associated Osteonecrosis of the Jaws|Bisphosphonate Induced Osteonecrosis of the Jaw|Bisphosphonate-Induced Osteonecrosis of the Jaw|Bisphosphonate Induced Osteonecrosis of the Jaws|Bisphosphonate-Induced Osteonecrosis of the Jaws|Bisphosphonate Osteonecroses|Bisphosphonate Osteonecrosis|Bisphosphonate Related Osteonecrosis of the Jaw|Bisphosphonate-Related Osteonecrosis of the Jaw|Osteonecroses, Bisphosphonate|Osteonecroses, Bisphosphonate-Associated|Osteonecrosis, Bisphosphonate|Osteonecrosis, Bisphosphonate-Associated|Osteonecrosis of the Jaw, Bisphosphonate Associated|Osteonecrosis of the Jaw, Bisphosphonate-Associated|Osteonecrosis of the Jaw, Bisphosphonate Induced|Osteonecrosis of the Jaw, Bisphosphonate-Induced|Osteonecrosis of the Jaw, Bisphosphonate Related|Osteonecrosis of the Jaw, Bisphosphonate-Related|Osteonecrosis of the Jaws, Bisphosphonate Associated|Osteonecrosis of the Jaws, Bisphosphonate-Associated|Osteonecrosis of the Jaws, Bisphosphonate Induced|Osteonecrosis of the Jaws, Bisphosphonate-Induced|Osteonecrosis of the Jaws, Bisphosphonate Related|Osteonecrosis of the Jaws, Bisphosphonate-Related Mouth disease|Musculoskeletal disease|Pathology (process) Bites and Stings MESH:D001733 Injuries inflicted by the TEETH or poisoning caused by VENOMS of animals. MESH:D011041|MESH:D014947 C25.723.127|C26.176 C25.723|C26 Bite|Bites|Sting|Stings|Stings and Bites Wounds and injuries Bites, Human MESH:D001734 Bites inflicted by humans. MESH:D001733 C26.176.071 C26.176 Bite, Human|Human Bite|Human Bites Wounds and injuries Bixler Christian Gorlin syndrome MESH:C537632 DO:DOID:14670 MESH:D002971|MESH:D002972|MESH:D006330|MESH:D008831|MESH:D065817 C05.500.460.185/C537632|C05.660.207.540.460.185/C537632|C05.660.207.620/C537632|C07.320.440.185/C537632|C07.465.409.225/C537632|C07.465.525.164/C537632|C07.465.525.185/C537632|C07.650.500.460.185/C537632|C07.650.525.164/C537632|C07.650.525.185/C537632|C09.218.235/C537632|C10.500.507.400.500/C537632|C14.240.400/C537632|C14.280.400/C537632|C16.131.240.400/C537632|C16.131.287/C537632|C16.131.621.207.540.460.185/C537632|C16.131.621.207.620/C537632|C16.131.666.507.400.500/C537632|C16.131.850.500.460.185/C537632|C16.131.850.525.164/C537632|C16.131.850.525.185/C537632 C05.500.460.185|C05.660.207.540.460.185|C05.660.207.620|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C09.218.235|C10.500.507.400.500|C14.240.400|C14.280.400|C16.131.240.400|C16.131.287|C16.131.621.207.540.460.185|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 HMC Syndrome|Hypertelorism microtia facial clefting syndrome|Hypertelorism, Microtia, Facial Clefting Syndrome Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease|Nervous system disease Bjornstad syndrome MESH:C537633 DO:DOID:0050677|OMIM:262000 MESH:D006201|MESH:D006319|MESH:D028361 C09.218.458.341.887/C537633|C10.597.751.418.341.887/C537633|C17.800.329/C537633|C18.452.660/C537633|C23.888.592.763.393.341.887/C537633 C09.218.458.341.887|C10.597.751.418.341.887|C17.800.329|C18.452.660|C23.888.592.763.393.341.887 BJS|Deafness and pili torti, Bjornstad type|Pili torti and nerve deafness|Pili torti-sensorineural hearing loss|PTD Ear-nose-throat disease|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease Black hairy tongue MESH:C538420 MESH:D014064 C07.465.910.791/C538420 C07.465.910.791 Black tongue|Lingua Nigra|Lingua Villosa Nigra Mouth disease Blackwater Fever MESH:D001742 DO:DOID:14068 A complication of MALARIA, FALCIPARUM characterized by the passage of dark red to black urine. MESH:D016778 C01.610.752.530.650.228|C01.920.875.650.228 C01.610.752.530.650|C01.920.875.650 Black Water Fever|Blackwater Fevers|Black Water Fevers|Fever, Blackwater|Fever, Black Water|Fevers, Blackwater|Fevers, Black Water|Hemolytic Malaria|Hemolytic Malarias|Malaria, Hemolytic|Malarias, Hemolytic Parasitic disease Bladder Diverticulum MESH:C562406 DO:DOID:11353 MESH:D004240 C06.405.205.282.750/C562406|C23.300.415/C562406 C06.405.205.282.750|C23.300.415 Digestive system disease|Pathology (anatomical condition) Bladder Exstrophy MESH:D001746 DO:DOID:0080174 A birth defect in which the URINARY BLADDER is malformed and exposed, inside out, and protruded through the ABDOMINAL WALL. It is caused by closure defects involving the top front surface of the bladder, as well as the lower abdominal wall; SKIN; MUSCLES; and the pubic bone. MESH:D001745|MESH:D014564 C12.050.351.875.132|C12.050.351.968.829.132|C12.200.706.132|C12.200.777.829.132|C12.800.132|C12.950.829.132|C16.131.939.132 C12.050.351.875|C12.050.351.968.829|C12.200.706|C12.200.777.829|C12.800|C12.950.829|C16.131.939 Bladder Exstrophies|Bladder Extrophies|Bladder Extrophy|Exstrophies, Bladder|Exstrophies, Urinary Bladder|Exstrophy, Bladder|Exstrophy Of Bladder|Exstrophy of the Bladder|Exstrophy, Urinary Bladder|Extrophies, Bladder|Extrophy, Bladder|Urinary Bladder Exstrophies|Urinary Bladder Exstrophy Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Bladder Exstrophy and Epispadias Complex MESH:C564009 MESH:D001746|MESH:D004842 C12.050.351.875.132/C564009|C12.050.351.875.374/C564009|C12.050.351.968.767.374/C564009|C12.050.351.968.829.132/C564009|C12.200.706.132/C564009|C12.200.706.374/C564009|C12.200.777.767.374/C564009|C12.200.777.829.132/C564009|C12.800.132/C564009|C12.800.374/C564009|C12.950.767.374/C564009|C12.950.829.132/C564009|C16.131.939.132/C564009|C16.131.939.374/C564009 C12.050.351.875.132|C12.050.351.875.374|C12.050.351.968.767.374|C12.050.351.968.829.132|C12.200.706.132|C12.200.706.374|C12.200.777.767.374|C12.200.777.829.132|C12.800.132|C12.800.374|C12.950.767.374|C12.950.829.132|C16.131.939.132|C16.131.939.374 Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Bland White Garland Syndrome MESH:D063748 DO:DOID:0060562 A congenital coronary vessel anomaly in which the left main CORONARY ARTERY originates from the PULMONARY ARTERY instead of from AORTA. The congenital heart defect typically results in coronary artery FISTULA; LEFT-SIDED HEART FAILURE and MITRAL VALVE INSUFFICIENCY during the first months of life. MESH:D001159|MESH:D003330 C14.240.400.210.249|C14.240.850.984.500.500|C14.280.400.210.249|C14.907.933.110.500|C16.131.240.400.210.249|C16.131.240.850.500.500|C23.300.575.950.150.500 C14.240.400.210|C14.240.850.984.500|C14.280.400.210|C14.907.933.110|C16.131.240.400.210|C16.131.240.850.500|C23.300.575.950.150 ALCAPA|ALCAPA Syndrome|ALCAPA Syndromes|Bland-White-Garland Syndrome|Syndrome, ALCAPA|Syndrome, Bland-White-Garland Cardiovascular disease|Congenital abnormality|Pathology (anatomical condition) Blast Crisis MESH:D001752 An advanced phase of chronic myelogenous leukemia, characterized by a rapid increase in the proportion of immature white blood cells (blasts) in the blood and bone marrow to greater than 30%. MESH:D002471|MESH:D015464 C04.557.337.539.250.100|C04.697.098.500.110|C15.378.190.636.370.100|C23.550.291.500.485.100|C23.550.727.098.500.110 C04.557.337.539.250|C04.697.098.500|C15.378.190.636.370|C23.550.291.500.485|C23.550.727.098.500 Blast Crises|Blast Phase|Blast Phases|Crises, Blast|Crisis, Blast|Phase, Blast|Phases, Blast Blood disease|Cancer|Pathology (process) Blast Injuries MESH:D001753 Injuries resulting when a person is struck by particles impelled with violent force from an explosion. Blast causes pulmonary concussion and hemorrhage, laceration of other thoracic and abdominal viscera, ruptured ear drums, and minor effects in the central nervous system. (From Dorland, 27th ed) MESH:D001469 C26.120.126 C26.120 Blast Injury|Injuries, Blast|Injury, Blast Wounds and injuries Blastocystis Infections MESH:D016776 Infections with organisms of the genus BLASTOCYSTIS. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in AIDS patients and other immunosuppressed patients (IMMUNOCOMPROMISED HOST). Symptoms include ABDOMINAL PAIN; DIARRHEA; CONSTIPATION; VOMITING; and FATIGUE. MESH:D000562|MESH:D007411 C01.610.432.250|C01.610.752.049.250|C06.405.469.452.250 C01.610.432|C01.610.752.049|C06.405.469.452 Blastocystis hominis Infection|Blastocystis hominis Infections|Blastocystis Infection|Infection, Blastocystis|Infection, Blastocystis hominis|Infections, Blastocystis|Infections, Blastocystis hominis Digestive system disease|Parasitic disease Blastomycosis MESH:D001759 DO:DOID:12663 A fungal infection that may appear in two forms: 1, a primary lesion characterized by the formation of a small cutaneous nodule and small nodules along the lymphatics that may heal within several months; and 2, chronic granulomatous lesions characterized by thick crusts, warty growths, and unusual vascularity and infection in the middle or upper lobes of the lung. MESH:D003881|MESH:D008172 C01.150.703.302.055|C01.150.703.534.350|C01.748.435.395|C01.800.200.055|C08.381.472.350|C08.730.435.395|C17.800.838.208.055 C01.150.703.302|C01.150.703.534|C01.748.435|C01.800.200|C08.381.472|C08.730.435|C17.800.838.208 Blastomycoses|Blastomycosis, North American|Gilchrist Disease|Gilchrist's Disease|Gilchrists Disease|North American Blastomycosis Bacterial infection or mycosis|Respiratory tract disease|Skin disease Blau syndrome MESH:C538157 DO:DOID:0050678|OMIM:186580 MESH:D001168|MESH:D012507|MESH:D013585|MESH:D014605 C05.550.114/C538157|C05.550.870/C538157|C11.941.879/C538157|C15.604.515.827/C538157|C20.543.418.575/C538157 C05.550.114|C05.550.870|C11.941.879|C15.604.515.827|C20.543.418.575 ACUG|Arthrocutaneouveal granulomatosis|BLAUS|Early-Onset Sarcoidosis|EOS|Familial Granulomatosis, Blau Type|Familial Juvenile Systemic Granulomatosis|Granulomatosis, familial, Blau type|Granulomatosis, familial juvenile systemic|Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|Jabs syndrome|Pediatric Granulomatous Arthritis|Sarcoidosis, Early-Onset|Synovitis granulomatous with uveitis and cranial neuropathies|Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies Eye disease|Immune system disease|Lymphatic disease|Musculoskeletal disease Bleeding Disorder due to Defective Thromboxane A2 Receptor MESH:C566055 OMIM:614009 MESH:D001778 C15.378.100/C566055 C15.378.100 BDPLT13|BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO|BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR Blood disease Bleeding Disorder Due To P2rx1 Defect MESH:C576084 MESH:D006470 C23.550.414/C576084 C23.550.414 Pathology (process) Bleeding Disorder Due To P2RY12 Defect MESH:C565220 MESH:D025861 C15.378.100.100/C565220|C16.320.099/C565220 C15.378.100.100|C16.320.099 Blood disease|Genetic disease (inborn) Bleeding Disorder, East Texas Type MESH:C565275 OMIM:605913 MESH:D001778 C15.378.100/C565275 C15.378.100 BDET Blood disease BLEEDING DISORDER, PLATELET-TYPE, 11 OMIM:614201 DO:DOID:0111057 MESH:D001791|MESH:D006470 C15.378.140/614201|C23.550.414/614201 C15.378.140|C23.550.414 BDPLT11|GLYCOPROTEIN VI DEFICIENCY|GP VI DEFICIENCY Blood disease|Pathology (process) BLEEDING DISORDER, PLATELET-TYPE, 15 OMIM:615193 DO:DOID:0111053 MESH:D013921 C15.378.140.855/615193 C15.378.140.855 BDPLT15|MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED Blood disease BLEEDING DISORDER, PLATELET-TYPE, 18 OMIM:615888 DO:DOID:0111051 MESH:D001791|MESH:D006470 C15.378.140/615888|C23.550.414/615888 C15.378.140|C23.550.414 BDPLT18 Blood disease|Pathology (process) BLEEDING DISORDER, PLATELET-TYPE, 19 OMIM:616176 DO:DOID:0111048 MESH:D001791|MESH:D006470 C15.378.140/616176|C23.550.414/616176 C15.378.140|C23.550.414 BDPLT19 Blood disease|Pathology (process) BLEEDING DISORDER, PLATELET-TYPE, 20 OMIM:616913 DO:DOID:0111055 MESH:D001791|MESH:D006470 C15.378.140/616913|C23.550.414/616913 C15.378.140|C23.550.414 BDPLT20 Blood disease|Pathology (process) BLEEDING DISORDER, PLATELET-TYPE, 21 OMIM:617443 MESH:D001791|MESH:D006470 C15.378.140/617443|C23.550.414/617443 C15.378.140|C23.550.414 BDPLT21 Blood disease|Pathology (process) BLEEDING DISORDER, PLATELET-TYPE, 8 OMIM:609821 DO:DOID:0060692 MESH:D001791|MESH:D006470 C15.378.140/609821|C23.550.414/609821 C15.378.140|C23.550.414 BDPLT8|BLEEDING DISORDER DUE TO P2RY12 DEFECT Blood disease|Pathology (process) BLEEDING DISORDER, PLATELET-TYPE, 9 OMIM:614200 DO:DOID:0111045 MESH:D001791|MESH:D006470 C15.378.140/614200|C23.550.414/614200 C15.378.140|C23.550.414 BDPLT9|COLLAGEN PLATELET RECEPTOR DEFICIENCY|GLYCOPROTEIN Ia DEFICIENCY|GP Ia DEFICIENCY Blood disease|Pathology (process) Blepharitis MESH:D001762 DO:DOID:9423 Inflammation of the eyelids. MESH:D005141 C11.338.133 C11.338 Blepharitides Eye disease Blepharochalasis And Double Lip MESH:C562742 MESH:D019465 C05.660.207/C562742|C16.131.621.207/C562742 C05.660.207|C16.131.621.207 Ascher Syndrome Congenital abnormality|Musculoskeletal disease Blepharochalasis, Superior MESH:C566223 MESH:D005141 C11.338/C566223 C11.338 Eye disease Blepharo-cheilo-dontic syndrome MESH:C536188 DO:DOID:0080344 MESH:D002971|MESH:D002972|MESH:D004483|MESH:D014071 C05.500.460.185/C536188|C05.660.207.540.460.185/C536188|C07.320.440.185/C536188|C07.465.409.225/C536188|C07.465.525.164/C536188|C07.465.525.185/C536188|C07.650.500.460.185/C536188|C07.650.525.164/C536188|C07.650.525.185/C536188|C07.650.800/C536188|C07.793.700/C536188|C11.338.362/C536188|C16.131.621.207.540.460.185/C536188|C16.131.850.500.460.185/C536188|C16.131.850.525.164/C536188|C16.131.850.525.185/C536188|C16.131.850.800/C536188 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C07.650.800|C07.793.700|C11.338.362|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.131.850.800 Blepharocheilodontic syndrome|Clefting, ectropion, and conical teeth|Elschnig syndrome|Lagophthalmia with bilateral cleft lip and palate Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Blepharophimosis MESH:D016569 DO:DOID:10348 The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed) MESH:D005124|MESH:D005141 C11.250.090|C11.338.190|C16.131.384.190 C11.250|C11.338|C16.131.384 Blepharophimoses Congenital abnormality|Eye disease Blepharophimosis, Ptosis, and Epicanthus Inversus MESH:C562419 DO:DOID:14778|OMIM:110100 MESH:D012868|MESH:D014564|MESH:D016569 C11.250.090/C562419|C11.338.190/C562419|C12.050.351.875/C562419|C12.200.706/C562419|C12.800/C562419|C16.131.384.190/C562419|C16.131.831/C562419|C16.131.939/C562419|C17.800.804/C562419 C11.250.090|C11.338.190|C12.050.351.875|C12.200.706|C12.800|C16.131.384.190|C16.131.831|C16.131.939|C17.800.804 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome|Blepharophimosis, Ptosis, and Epicanthus Inversus Type I|Blepharophimosis, Ptosis, and Epicanthus Inversus Type II|Blepharophimosis Syndrome|BPES|BPES, TYPE II, INCLUDED|BPES, TYPE I, INCLUDED|BPES WITH DUANE RETRACTION SYNDROME, INCLUDED|BPES WITHOUT OVARIAN FAILURE, INCLUDED|BPES WITH OVARIAN FAILURE, INCLUDED Congenital abnormality|Eye disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) Blepharophimosis syndrome Ohdo type MESH:C536232 DO:DOID:0060289|OMIM:300895 MESH:D000015|MESH:D001763|MESH:D006330|MESH:D008607|MESH:D016569 C10.597.606.360/C536232|C11.250.090/C536232|C11.338.190/C536232|C11.338.204/C536232|C14.240.400/C536232|C14.280.400/C536232|C16.131.077/C536232|C16.131.240.400/C536232|C16.131.384.190/C536232|C23.888.592.604.646/C536232|F03.625.539/C536232 C10.597.606.360|C11.250.090|C11.338.190|C11.338.204|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.384.190|C23.888.592.604.646|F03.625.539 BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE|Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth|Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth|Ohdo Blepharophimosis syndrome|Ohdo Madokoro Sonoda syndrome|OHDO SYNDROME, X-LINKED|OHDOX Cardiovascular disease|Congenital abnormality|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Blepharophimosis syndrome type 1 MESH:C536233 MESH:D008594|MESH:D012868|MESH:D016569 C11.250.090/C536233|C11.338.190/C536233|C12.050.351.500.056.630.250/C536233|C12.100.250.056.630.250/C536233|C16.131.384.190/C536233|C16.131.831/C536233|C17.800.804/C536233 C11.250.090|C11.338.190|C12.050.351.500.056.630.250|C12.100.250.056.630.250|C16.131.384.190|C16.131.831|C17.800.804 Blepharophimosis, ptosis, epicanthus inversus type 1|Blepharophimosis, ptosis, epicanthus inversus with ovarian failure Congenital abnormality|Eye disease|Skin disease|Urogenital disease (female) Blepharophimosis syndrome type 2 MESH:C536234 MESH:D012868|MESH:D016569 C11.250.090/C536234|C11.338.190/C536234|C16.131.384.190/C536234|C16.131.831/C536234|C17.800.804/C536234 C11.250.090|C11.338.190|C16.131.384.190|C16.131.831|C17.800.804 Blepharophimosis, ptosis, and epicanthus inversus type 2|Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure Congenital abnormality|Eye disease|Skin disease Blepharophimosis with Facial and Genital Anomalies and Mental Retardation MESH:C565797 MESH:D008607|MESH:D016569|MESH:D019465 C05.660.207/C565797|C10.597.606.360/C565797|C11.250.090/C565797|C11.338.190/C565797|C16.131.384.190/C565797|C16.131.621.207/C565797|C23.888.592.604.646/C565797|F03.625.539/C565797 C05.660.207|C10.597.606.360|C11.250.090|C11.338.190|C16.131.384.190|C16.131.621.207|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Blepharophimosis with ptosis, syndactyly, and short stature MESH:C536235 MESH:D006130|MESH:D012868|MESH:D013576|MESH:D016569 C05.116.099.370.894.819/C536235|C05.660.585.800/C536235|C05.660.906.819/C536235|C11.250.090/C536235|C11.338.190/C536235|C16.131.384.190/C536235|C16.131.621.585.800/C536235|C16.131.621.906.819/C536235|C16.131.831/C536235|C17.800.804/C536235|C23.550.393/C536235 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C11.250.090|C11.338.190|C16.131.384.190|C16.131.621.585.800|C16.131.621.906.819|C16.131.831|C17.800.804|C23.550.393 Congenital abnormality|Eye disease|Musculoskeletal disease|Pathology (process)|Skin disease Blepharoptosis MESH:D001763 DO:DOID:0060260 Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle. MESH:D005141 C11.338.204 C11.338 Blepharoptoses|Eyelid Ptoses|Eyelid Ptosis|Ptoses, Eyelid|Ptosis, Eyelid Eye disease Blepharoptosis myopia ectopia lentis MESH:C536236 MESH:D001763|MESH:D004479|MESH:D009216 C11.250.300/C536236|C11.338.204/C536236|C11.510.598.373/C536236|C11.744.636/C536236|C16.131.384.405/C536236 C11.250.300|C11.338.204|C11.510.598.373|C11.744.636|C16.131.384.405 Blepharoptosis, Myopia, and Ectopia Lentis|Dominantly inherited blepharoptosis, high myopia, and ectopia lentis Congenital abnormality|Eye disease Blepharospasm MESH:D001764 DO:DOID:529 Excessive winking; tonic or clonic spasm of the orbicularis oculi muscle. MESH:D005141 C11.338.250 C11.338 Blepharospasms Eye disease Blind Loop Syndrome MESH:D001765 DO:DOID:10606 A malabsorption syndrome that is associated with a blind loop in the upper SMALL INTESTINE that is characterized by the lack of peristaltic movement, stasis of INTESTINAL CONTENTS, and the overgrowth of BACTERIA. Such bacterial overgrowth interferes with BILE SALTS action, FATTY ACIDS processing, MICROVILLI integrity, and the ABSORPTION of nutrients such as VITAMIN B12 and FOLIC ACID. MESH:D008286 C06.405.469.637.145|C18.452.603.145 C06.405.469.637|C18.452.603 Bacterial Overgrowth Syndrome|Loop Syndromes, Stagnant|Loop Syndrome, Stagnant|Stagnant Loop Syndrome|Stagnant Loop Syndromes|Syndrome, Bacterial Overgrowth|Syndrome, Blind Loop|Syndromes, Stagnant Loop|Syndrome, Stagnant Loop Digestive system disease|Metabolic disease Blindness MESH:D001766 The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE. MESH:D014786 C10.597.751.941.162|C11.966.075|C23.888.592.763.941.162 C10.597.751.941|C11.966|C23.888.592.763.941 Acquired Blindness|Amauroses|Amaurosis|Bilateral Blindness|Bilateral Blindnesses|Blindness, Acquired|Blindness, Bilateral|Blindness, Complete|Blindness, Hysterical|Blindness, Legal|Blindness, Monocular|Blindness, Transient|Blindness, Unilateral|Complete Blindness|Hysterical Blindness|Legal Blindness|Monocular Blindness|Sudden Visual Loss|Sudden Visual Losses|Transient Blindness|Unilateral Blindness|Visual Loss, Sudden Eye disease|Nervous system disease|Signs and symptoms Blindness, Cortical MESH:D019575 DO:DOID:11831 Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460) MESH:D001766 C10.597.751.941.162.250|C11.966.075.250|C23.888.592.763.941.162.250 C10.597.751.941.162|C11.966.075|C23.888.592.763.941.162 Anton Babinski Syndrome|Anton-Babinski Syndrome|Anton's Syndrome|Antons Syndrome|Anton's Syndrome, Transient|Anton Syndrome|Blindness, Cortical, Post-Ictal|Blindness, Cortical, Transient|Blindnesses, Reversible Cortical|Blindness, Reversible Cortical|Cortical Blindness|Cortical Blindnesses, Reversible|Cortical Blindness, Reversible|Psychic Denial of Blindness|Reversible Cortical Blindness|Reversible Cortical Blindnesses|Syndrome, Anton|Syndrome, Anton-Babinski|Syndrome, Anton's|Syndrome, Transient Anton's|Transient Anton's Syndrome|Transient Antons Syndrome|Transient Anton Syndrome Eye disease|Nervous system disease|Signs and symptoms Blister MESH:D001768 Visible accumulations of fluid within or beneath the epidermis. MESH:D012872|MESH:D020763 C17.800.865.187|C23.300.122 C17.800.865|C23.300 Bleb|Blebs|Blisters|Bulla|Bullae|Bullous Lesion|Bullous Lesions|Lesion, Bullous|Lesions, Bullous|Vesication|Vesications Pathology (anatomical condition)|Skin disease Blood-Borne Infections MESH:D000086982 Diseases due to or propagated by body fluids from hosts whose BLOOD has been contaminated with pathogens. MESH:D003141 C01.221.250|C23.550.291.531.500 C01.221|C23.550.291.531 Blood Borne Disease|Blood Borne Diseases|Blood Borne Infection|Blood-Borne Infection|Blood Borne Infections|Disease, Blood Borne|Infection, Blood Borne|Infection, Blood-Borne Pathology (process) Blood Coagulation Disorders MESH:D001778 DO:DOID:1247 Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions. MESH:D006402 C15.378.100 C15.378 Blood Coagulation Disorder|Coagulation Disorder, Blood|Coagulation Disorders, Blood|Disorder, Blood Coagulation|Disorders, Blood Coagulation Blood disease Blood Coagulation Disorders, Inherited MESH:D025861 Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. MESH:D001778|MESH:D030342 C15.378.100.100|C16.320.099 C15.378.100|C16.320 Coagulation Disorder, Hereditary|Coagulation Disorder, Inherited|Coagulation Disorders, Hereditary|Coagulation Disorders, Inherited|Hereditary Blood Coagulation Disorders|Hereditary Coagulation Disorder|Hereditary Coagulation Disorders|Inherited Blood Coagulation Disorders|Inherited Coagulation Disorder|Inherited Coagulation Disorders Blood disease|Genetic disease (inborn) Blood Loss, Surgical MESH:D016063 Loss of blood during a surgical procedure. MESH:D006470|MESH:D007431 C23.550.414.300|C23.550.505.300 C23.550.414|C23.550.505 Hemorrhage, Surgical|Surgical Blood Loss|Surgical Blood Losses|Surgical Hemorrhage|Surgical Hemorrhages Pathology (process) Blood Platelet Disorders MESH:D001791 DO:DOID:2218 Disorders caused by abnormalities in platelet count or function. MESH:D006402 C15.378.140 C15.378 Blood Platelet Disorder|Disorder, Blood Platelet|Disorders, Blood Platelet|Platelet Disorder, Blood|Platelet Disorders, Blood|Thrombocytopathies|Thrombocytopathy Blood disease Blood Protein Disorders MESH:D001796 DO:DOID:620 Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS. MESH:D006402 C15.378.147 C15.378 Blood Protein Disorder|Disorder, Blood Protein|Disorders, Blood Protein|Protein Disorder, Blood|Protein Disorders, Blood Blood disease Bloom Syndrome MESH:D001816 DO:DOID:2717|OMIM:210900 An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. MESH:D000015|MESH:D000081207|MESH:D049914 C16.131.077.137|C16.320.798.313|C18.452.284.100|C20.673.795.313 C16.131.077|C16.320.798|C18.452.284|C20.673.795 BLM|Bloom's Syndrome|Bloom's Syndromes|Bloom Torre Machacek Syndrome|Bloom-Torre-Machacek Syndrome|BLS|BS|Congenital Telangiectatic Erythema|Congenital Telangiectatic Erythemas|Erythema, Congenital Telangiectatic|MGRISCE1|MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1|Telangiectatic Erythema, Congenital Congenital abnormality|Genetic disease (inborn)|Immune system disease|Metabolic disease Blount disease MESH:C536237 MESH:D001848|MESH:D055034 C05.116.099/C536237|C05.116.821/C536237 C05.116.099|C05.116.821 Osteochondrosis Deformans Tibiae|Osteochondrosis deformans tibiae, familial infantile type|Tibia vara Musculoskeletal disease Blue cone monochromatism MESH:C536238 OMIM:303700 MESH:D003117 C10.597.751.941.256/C536238|C11.270.151.500/C536238|C11.966.256/C536238|C23.888.592.763.941.256/C536238 C10.597.751.941.256|C11.270.151.500|C11.966.256|C23.888.592.763.941.256 BCM|Blue cone monochromacy|BLUE CONE MONOCHROMATISM|COD5, INCLUDED|Color blindness blue mono cone monochromatic type|Colorblindness, Blue-Mono-Cone-Monochromatic Type|COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE;CBBM CONE DYSTROPHY 5, X-LINKED, INCLUDED Eye disease|Nervous system disease|Signs and symptoms Blue diaper syndrome MESH:C536239 MESH:D000592|MESH:D005124|MESH:D006934|MESH:D007674 C11.250/C536239|C12.050.351.968.419/C536239|C12.200.777.419/C536239|C12.950.419/C536239|C16.131.384/C536239|C16.320.565.100/C536239|C18.452.174.451/C536239|C18.452.648.100/C536239|C18.452.950.340/C536239 C11.250|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.384|C16.320.565.100|C18.452.174.451|C18.452.648.100|C18.452.950.340 Hypercalcemia, familial, with nephrocalcinosis and indicanuria Congenital abnormality|Eye disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Blue Nevi, Familial Multiple MESH:C566346 MESH:D018329 C04.557.665.560.615.550/C566346 C04.557.665.560.615.550 Cancer Blue rubber bleb nevus syndrome MESH:C536240 MESH:D005770|MESH:D012878|MESH:D018329 C04.557.665.560.615.550/C536240|C04.588.274.476/C536240|C04.588.805/C536240|C06.301.371/C536240|C06.405.249/C536240|C17.800.882/C536240 C04.557.665.560.615.550|C04.588.274.476|C04.588.805|C06.301.371|C06.405.249|C17.800.882 Bean syndrome|Blue rubber bleb nevus Cancer|Digestive system disease|Skin disease Blue Toe Syndrome MESH:D018438 DO:DOID:14121 A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without AMPUTATION, SURGICAL. MESH:D016491|MESH:D017700 C14.907.355.350.454.500.200|C14.907.617.249 C14.907.355.350.454.500|C14.907.617 Syndrome, Blue Toe Cardiovascular disease Bluetongue MESH:D001819 A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet. MESH:D001102|MESH:D012088|MESH:D012757 C01.920.500.125|C01.925.081.125|C01.925.782.791.315|C22.836.120 C01.920.500|C01.925.081|C01.925.782.791|C22.836 Blue Tongue|Tongue, Blue Animal disease|Viral disease Bobble-head doll syndrome MESH:C536241 MESH:D016080|MESH:D020820 C04.182.044/C536241|C04.588.614.250.387.100/C536241|C10.228.662.262/C536241|C10.500.142.100/C536241|C10.551.240.375.100/C536241|C10.597.350/C536241|C16.131.666.142.100/C536241|C23.888.592.350/C536241 C04.182.044|C04.588.614.250.387.100|C10.228.662.262|C10.500.142.100|C10.551.240.375.100|C10.597.350|C16.131.666.142.100|C23.888.592.350 Bobble head doll syndrome Cancer|Congenital abnormality|Nervous system disease|Signs and symptoms Body Dysmorphic Disorders MESH:D057215 Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning. MESH:D013001 F03.875.149 F03.875 Body Dysmorphic Disorder|Body Image Disfunction|Body Image Disfunctions|Body Image Disorder|Body Image Disorders|Disfunction, Body Image|Disfunctions, Body Image|Disorder, Body Dysmorphic|Disorders, Body Dysmorphic|Disorders, Body Image|Dysmorphic Disorder, Body|Dysmorphic Disorders, Body|Image Disfunction, Body|Image Disfunctions, Body|Image Disorders, Body Mental disorder Body Integrity Identity Disorder MESH:D000081042 Condition in which individuals desire the amputation of one or more healthy limbs or who desire a paralysis. MESH:D013001 F03.875.225 F03.875 Amputee Identity Disorder|Amputee Identity Disorders|Apotemnophilia|Apotemnophilias|BIID|Body Integrity Disorder|Body Integrity Disorders|Disorder, Body Integrity|Disorders, Amputee Identity|Disorders, Body Integrity|Foreign Limb Syndrome|Foreign Limb Syndromes|Integrity Disorder, Body|Integrity Disorders, Body|Limb Syndrome, Foreign|Limb Syndromes, Foreign|Xenomelia|Xenomelias Mental disorder BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 OMIM:607514 MESH:D009765 C18.654.726.750.500/607514|C23.888.144.699.500/607514 C18.654.726.750.500|C23.888.144.699.500 BMIQ10|OBESITY, SUSCEPTIBILITY TO Nutrition disorder|Signs and symptoms BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 OMIM:300306 MESH:D009765 C18.654.726.750.500/300306|C23.888.144.699.500/300306 C18.654.726.750.500|C23.888.144.699.500 BMIQ11|OBESITY, SUSCEPTIBILITY TO Nutrition disorder|Signs and symptoms BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 OMIM:612362 MESH:D009765 C18.654.726.750.500/612362|C23.888.144.699.500/612362 C18.654.726.750.500|C23.888.144.699.500 BMIQ12|OBESITY, SUSCEPTIBILITY TO Nutrition disorder|Signs and symptoms BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 OMIM:612459 MESH:D009765 C18.654.726.750.500/612459|C23.888.144.699.500/612459 C18.654.726.750.500|C23.888.144.699.500 BMIQ13 Nutrition disorder|Signs and symptoms BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 OMIM:612460 MESH:D009765 C18.654.726.750.500/612460|C23.888.144.699.500/612460 C18.654.726.750.500|C23.888.144.699.500 BMIQ14|OBESITY, SUSCEPTIBILITY TO Nutrition disorder|Signs and symptoms BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18 OMIM:615457 MESH:D009765 C18.654.726.750.500/615457|C23.888.144.699.500/615457 C18.654.726.750.500|C23.888.144.699.500 BMIQ18|OBESITY, SUSCEPTIBILITY TO Nutrition disorder|Signs and symptoms BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 OMIM:607447 MESH:D009765 C18.654.726.750.500/607447|C23.888.144.699.500/607447 C18.654.726.750.500|C23.888.144.699.500 BMIQ4|OBESITY, SUSCEPTIBILITY TO Nutrition disorder|Signs and symptoms BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 OMIM:608410 MESH:D009765 C18.654.726.750.500/608410|C23.888.144.699.500/608410 C18.654.726.750.500|C23.888.144.699.500 BMIQ7|OBESITY, SUSCEPTIBILITY TO Nutrition disorder|Signs and symptoms BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 OMIM:603188 MESH:D009765 C18.654.726.750.500/603188|C23.888.144.699.500/603188 C18.654.726.750.500|C23.888.144.699.500 BMIQ8|OBESITY, SUSCEPTIBILITY TO Nutrition disorder|Signs and symptoms BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 OMIM:602025 MESH:D009765 C18.654.726.750.500/602025|C23.888.144.699.500/602025 C18.654.726.750.500|C23.888.144.699.500 BMIQ9|OBESITY, SUSCEPTIBILITY TO Nutrition disorder|Signs and symptoms Body Odor MESH:D000089083 Strong or unusual odor related to the body. Occasional abnormal body odor may be a temporary effect of a metabolic change. MESH:D012816 C23.888.104 C23.888 Body Odors|Bromhidroses|Bromhidrosis|Odors, Body Signs and symptoms Body Remains MESH:D000071298 The physical entity of a deceased human or animal. MESH:D003643 C23.550.260.127 C23.550.260 Animal Remains|Human Remains|Remains, Animal|Remains, Body|Remains, Human|Remains, Skeletal|Skeletal Remains Pathology (process) Body Temperature Changes MESH:D001832 Significant alterations in temperature of the human body, above or below 98.6 degrees F. or 37 degrees C. when taken orally. MESH:D012816 C23.888.119 C23.888 Body Temperature Change|Change, Body Temperature|Changes, Body Temperature|Temperature Change, Body|Temperature Changes, Body Signs and symptoms Body Weight MESH:D001835 The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. MESH:D012816 C23.888.144 C23.888 Body Weights|Weight, Body|Weights, Body Signs and symptoms Body Weight Changes MESH:D001836 A clinical manifestation consisting of alterations in an individual's weight from his or her norm. MESH:D001835 C23.888.144.243 C23.888.144 Body Weight Change|Change, Body Weight|Changes, Body Weight|Weight Change, Body|Weight Changes, Body Signs and symptoms Body-Weight Trajectory MESH:D000077962 A general pattern of body weight gain or loss over many years. Weight change trajectory is influenced by several determinants in children and adults. MESH:D001836 C23.888.144.243.463 C23.888.144.243 Body-Weight Trajectories|Body Weight Trajectory|Change Trajectories, Weight|Change Trajectory, Weight|Gain Trajectories, Weight|Gain Trajectory, Weight|Loss Trajectories, Weight|Loss Trajectory, Weight|Trajectories, Body-Weight|Trajectories, Weight|Trajectories, Weight Change|Trajectories, Weight Gain|Trajectories, Weight Loss|Trajectory, Body-Weight|Trajectory, Weight|Trajectory, Weight Change|Trajectory, Weight Gain|Trajectory, Weight Loss|Weight Change Trajectories|Weight Change Trajectory|Weight Gain Trajectories|Weight Gain Trajectory|Weight Loss Trajectories|Weight Loss Trajectory|Weight Trajectories|Weight Trajectory Signs and symptoms Boerhaave syndrome MESH:C536571 MESH:D004939|MESH:D008477 C06.405.117.468/C536571|C08.846.187/C536571|C26.348/C536571 C06.405.117.468|C08.846.187|C26.348 Boerhaave's syndrome|Boerhave syndrome Digestive system disease|Respiratory tract disease|Wounds and injuries Bohring syndrome MESH:C537419 OMIM:605039 MESH:D003398|MESH:D008607 C05.116.099.370.894.232/C537419|C05.660.207.240/C537419|C05.660.906.364/C537419|C10.597.606.360/C537419|C16.131.621.207.240/C537419|C16.131.621.906.364/C537419|C23.888.592.604.646/C537419|F03.625.539/C537419 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C10.597.606.360|C16.131.621.207.240|C16.131.621.906.364|C23.888.592.604.646|F03.625.539 Bohring-Opitz syndrome|BOHRING SYNDROME|BOPS|BOS|C-like syndrome|Opitz trigonocephaly-like syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Bone Anteversion MESH:D060750 Malalignment of a bone in which its head and neck is rotated excessively forward or inward. MESH:D014102|MESH:D017760 C05.116.214.500|C23.300.970.249 C05.116.214|C23.300.970 Antetorsion, Bone|Antetorsions, Bone|Anteversion, Bone|Anteversions, Bone|Bone Antetorsion|Bone Antetorsions|Bone Anteversions Musculoskeletal disease|Pathology (anatomical condition) Bone Cysts MESH:D001845 Benign unilocular lytic areas in the proximal end of a long bone with well defined and narrow endosteal margins. The cysts contain fluid and the cyst walls may contain some giant cells. Bone cysts usually occur in males between the ages 3-15 years. MESH:D001847|MESH:D003560 C04.182.089|C05.116.070 C04.182|C05.116 Bone Cyst|Cyst, Bone|Cysts, Bone|Cyst, Solitary|Cysts, Solitary|Cysts, Subchondral|Cyst, Subchondral|Ganglia, Intraosseous|Ganglia, Intra Osseous|Ganglia, Intra-Osseous|Ganglias, Intraosseous|Ganglias, Intra-Osseous|Ganglion, Intraosseous|Ganglion, Intra Osseous|Ganglion, Intra-Osseous|Ganglions, Intra-Osseous|Intraosseous Ganglia|Intra Osseous Ganglia|Intra-Osseous Ganglia|Intraosseous Ganglias|Intra-Osseous Ganglias|Intraosseous Ganglion|Intra Osseous Ganglion|Intra-Osseous Ganglion|Intraosseous Ganglions|Intra-Osseous Ganglions|Solitary Cyst|Solitary Cysts|Subchondral Cyst|Subchondral Cysts Cancer|Musculoskeletal disease Bone Cysts, Aneurysmal MESH:D017824 OMIM:606179 Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures. MESH:D001845 C04.182.089.265|C05.116.070.265 C04.182.089|C05.116.070 Aneurysmal Bone Cysts|Bone Cyst, Aneurysmal|Cyst, Aneurysmal Bone|Cysts, Aneurysmal Bone Cancer|Musculoskeletal disease Bone Demineralization, Pathologic MESH:D018488 Decrease, loss, or removal of the mineral constituents of bones. Temporary loss of bone mineral content is especially associated with space flight, weightlessness, and extended immobilization. OSTEOPOROSIS is permanent, includes reduction of total bone mass, and is associated with increased rate of fractures. CALCIFICATION, PHYSIOLOGIC is the process of bone remineralizing. (From Dorland, 27th ed; Stedman, 25th ed; Nicogossian, Space Physiology and Medicine, 2d ed, pp327-33) MESH:D001851 C05.116.198.247|C18.452.104.247 C05.116.198|C18.452.104 Pathologic Bone Demineralization Metabolic disease|Musculoskeletal disease Bone Diseases MESH:D001847 DO:DOID:0080001 Diseases of BONES. MESH:D009140 C05.116 C05 Bone Disease|Disease, Bone|Diseases, Bone Musculoskeletal disease Bone Diseases, Developmental MESH:D001848 Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. MESH:D001847 C05.116.099 C05.116 Bone Disease, Developmental|Bone Dysplasia|Bone Dysplasias|Developmental Bone Disease|Developmental Bone Diseases|Dysplasia, Bone|Dysplasias, Bone Musculoskeletal disease Bone Diseases, Endocrine MESH:D001849 Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands. MESH:D001847|MESH:D004700 C05.116.132|C19.149 C05.116|C19 Bone Disease, Endocrine|Disease, Endocrine Bone|Diseases, Endocrine Bone|Endocrine Bone Disease|Endocrine Bone Diseases Endocrine system disease|Musculoskeletal disease Bone Diseases, Infectious MESH:D001850 Bone diseases caused by pathogenic microorganisms. MESH:D001847|MESH:D007239 C01.160|C05.116.165 C01|C05.116 Bone Disease, Infectious|Disease, Infectious Bone|Diseases, Infectious Bone|Infectious Bone Disease|Infectious Bone Diseases Musculoskeletal disease Bone Diseases, Metabolic MESH:D001851 Diseases that affect the METABOLIC PROCESSES of BONE TISSUE. MESH:D001847|MESH:D008659 C05.116.198|C18.452.104 C05.116|C18.452 Bone Density, Low|Bone Disease, Metabolic|Low Bone Densities|Low Bone Density|Low Bone Mineral Density|Metabolic Bone Disease|Metabolic Bone Diseases|Osteopenia|Osteopenias Metabolic disease|Musculoskeletal disease Bone Dysplasia, Lethal, Holmgren Type MESH:C565896 MESH:D001848 C05.116.099/C565896 C05.116.099 Musculoskeletal disease Bone Fragility with Contractures, Arterial Rupture, and Deafness MESH:C567320 OMIM:612394 MESH:D003240|MESH:D003286|MESH:D012422 C05.550.323/C567320|C05.651.197/C567320|C17.300/C567320|C23.300.909/C567320 C05.550.323|C05.651.197|C17.300|C23.300.909 BCARD|LH3 Deficiency|Lysyl Hydroxylase 3 Deficiency Connective tissue disease|Musculoskeletal disease|Pathology (anatomical condition) Bone Malalignment MESH:D017760 Displacement of bones out of line in relation to joints. It may be congenital or traumatic in origin. MESH:D001847 C05.116.214 C05.116 Bone Malalignments|Bone Malposition|Bone Malpositions|Bone Misalignment|Bone Misalignments|Malalignment, Bone|Malposition, Bone|Misalignment, Bone Musculoskeletal disease Bone Marrow Diseases MESH:D001855 DO:DOID:4961 Diseases involving the BONE MARROW. MESH:D006402 C15.378.190 C15.378 Bone Marrow Disease|Disease, Bone Marrow|Diseases, Bone Marrow|Marrow Disease, Bone|Marrow Diseases, Bone Blood disease Bone Marrow Failure Disorders MESH:D000080983 Inherited or acquired diseases characterized by insufficient and/or dysplastic blood cells. MESH:D001855 C15.378.190.223 C15.378.190 Bone Marrow Failure|Bone Marrow Failure Syndrome|Bone Marrow Failure Syndromes|Failure, Bone Marrow Blood disease Bone Marrow Neoplasms MESH:D019046 Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic. MESH:D001855|MESH:D019337 C04.588.448.200|C15.378.190.250|C15.378.400.200 C04.588.448|C15.378.190|C15.378.400 Bone Marrow Neoplasm|Neoplasm, Bone Marrow|Neoplasms, Bone Marrow Blood disease|Cancer BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12 OMIM:612560 MESH:D010024|MESH:D058866 C05.116.198.579/612560|C18.452.104.579/612560|C26.404.545/612560 C05.116.198.579|C18.452.104.579|C26.404.545 BMND12 Metabolic disease|Musculoskeletal disease|Wounds and injuries BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 OMIM:613418 MESH:D010024|MESH:D050815 C05.116.198.579/613418|C18.452.104.579/613418|C26.404.195/613418 C05.116.198.579|C18.452.104.579|C26.404.195 BMND15|COMPRESSION FRACTURE, SUSCEPTIBILITY TO|METAPHYSEAL FRACTURE, SUSCEPTIBILITY TO|OSTEOPOROSIS, SUSCEPTIBILITY TO Metabolic disease|Musculoskeletal disease|Wounds and injuries BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 OMIM:615311 MESH:D010024|MESH:D058866 C05.116.198.579/615311|C18.452.104.579/615311|C26.404.545/615311 C05.116.198.579|C18.452.104.579|C26.404.545 BMND17|BONE MINERAL DENSITY, LOW, SUSCEPTIBILITY TO Metabolic disease|Musculoskeletal disease|Wounds and injuries BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18 OMIM:300910 MESH:D010024|MESH:D058866 C05.116.198.579/300910|C18.452.104.579/300910|C26.404.545/300910 C05.116.198.579|C18.452.104.579|C26.404.545 BMND18|OSTEOPOROSIS AND OSTEOPOROTIC FRACTURES, SUSCEPTIBILITY TO Metabolic disease|Musculoskeletal disease|Wounds and injuries Bone Neoplasms MESH:D001859 DO:DOID:184 Tumors or cancer located in bone tissue or specific BONES. MESH:D001847|MESH:D009371 C04.588.149|C05.116.231 C04.588|C05.116 Bone Cancer|Bone Neoplasm|Cancer of Bone|Cancer of the Bone|Neoplasm, Bone|Neoplasms, Bone Cancer|Musculoskeletal disease Bone Resorption MESH:D001862 DO:DOID:0080011 Bone loss due to osteoclastic activity. MESH:D001847 C05.116.264 C05.116 Bone Losses, Osteoclastic|Bone Loss, Osteoclastic|Bone Resorptions|Losses, Osteoclastic Bone|Loss, Osteoclastic Bone|Osteoclastic Bone Loss|Osteoclastic Bone Losses|Resorption, Bone|Resorptions, Bone Musculoskeletal disease Bone Retroversion MESH:D060751 Attachment of a bone in which its head and neck is rotated excessively backward. MESH:D014102|MESH:D017760 C05.116.214.750|C23.300.970.374 C05.116.214|C23.300.970 Bone Retrotorsion|Bone Retrotorsions|Bone Retroversions|Retrotorsion, Bone|Retrotorsions, Bone|Retroversion, Bone|Retroversions, Bone Musculoskeletal disease|Pathology (anatomical condition) Bonneau Syndrome MESH:C564875 MESH:D006330|MESH:D013576 C05.116.099.370.894.819/C564875|C05.660.585.800/C564875|C05.660.906.819/C564875|C14.240.400/C564875|C14.280.400/C564875|C16.131.240.400/C564875|C16.131.621.585.800/C564875|C16.131.621.906.819/C564875 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.585.800|C16.131.621.906.819 Polysyndactyly with Cardiac Malformation Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Book Syndrome MESH:C562993 MESH:D006945|MESH:D012868|MESH:D014071 C07.650.800/C562993|C07.793.700/C562993|C16.131.831/C562993|C16.131.850.800/C562993|C17.800.804/C562993|C17.800.946.350/C562993 C07.650.800|C07.793.700|C16.131.831|C16.131.850.800|C17.800.804|C17.800.946.350 PHC Syndrome Congenital abnormality|Mouth disease|Skin disease Boomerang dysplasia MESH:C536573 DO:DOID:0050680|OMIM:112310 MESH:D004392|MESH:D010009|MESH:D019066 C05.116.099.343/C536573|C05.116.099.708/C536573|C16.320.240/C536573|C16.320.728/C536573|C19.297/C536573|C23.550.291.812/C536573 C05.116.099.343|C05.116.099.708|C16.320.240|C16.320.728|C19.297|C23.550.291.812 BOOMD|Boomerang-like skeletal dysplasia|Dwarfism with short, bowed, rigid limbs and characteristic facies|Piepkorn Dysplasia Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Border Disease MESH:D001882 Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus. MESH:D012757|MESH:D018182 C01.925.782.350.675.100|C22.836.160 C01.925.782.350.675|C22.836 Border Diseases Animal disease|Viral disease Borderline Personality Disorder MESH:D001883 DO:DOID:10930 A personality disorder marked by a pattern of instability of interpersonal relationships, self-image, and affects, and marked impulsivity beginning by early adulthood and present in a variety of contexts. (DSM-IV) MESH:D010554 F03.675.100 F03.675 Borderline Personality Disorders|Disorder, Borderline Personality|Disorders, Borderline Personality|Personality Disorder, Borderline|Personality Disorders, Borderline Mental disorder Bordetella Infections MESH:D001885 DO:DOID:1116 Infections with bacteria of the genus BORDETELLA. MESH:D016905 C01.150.252.400.143 C01.150.252.400 Bordetella Infection|Infection, Bordetella|Infections, Bordetella Bacterial infection or mycosis Bor-Duane hydrocephalus contiguous gene syndrome MESH:C536574 MESH:D004370|MESH:D006849|MESH:D019280 C10.228.140.602/C536574|C10.292.562.700.375.500/C536574|C11.270.235/C536574|C11.590.436.400.500/C536574|C16.131.077.208/C536574|C16.131.260.090/C536574|C16.320.180.090/C536574|C16.320.290.235/C536574 C10.228.140.602|C10.292.562.700.375.500|C11.270.235|C11.590.436.400.500|C16.131.077.208|C16.131.260.090|C16.320.180.090|C16.320.290.235 Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Borjeson-Forssman-Lehmann syndrome MESH:C536575 DO:DOID:0050681|OMIM:301900 MESH:D004827|MESH:D006130|MESH:D007006|MESH:D009765|MESH:D038901 C10.228.140.490/C536575|C10.597.606.360.455/C536575|C16.320.322.500/C536575|C16.320.400.525/C536575|C18.654.726.750.500/C536575|C19.391.482/C536575|C23.550.393/C536575|C23.888.144.699.500/C536575 C10.228.140.490|C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C18.654.726.750.500|C19.391.482|C23.550.393|C23.888.144.699.500 BFLS|BORJ|Borjeson Syndrome|Mental deficiency, epilepsy and endocrine disorders|Mental Deficiency, Epilepsy, And Endocrine Disorders|MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS|MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE|MRXSBFL Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Nutrition disorder|Pathology (process)|Signs and symptoms Bork Stender Schmidt syndrome MESH:C536576 MESH:D012174|MESH:D014076|MESH:D059327 C05.660.585.262/C536576|C07.793/C536576|C11.270.684/C536576|C11.768.585.658.500/C536576|C16.131.621.585.262/C536576|C16.320.290.684/C536576 C05.660.585.262|C07.793|C11.270.684|C11.768.585.658.500|C16.131.621.585.262|C16.320.290.684 Bork syndrome|Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Borna Disease MESH:D001890 DO:DOID:5154 An encephalomyelitis of horses, sheep and cattle caused by BORNA DISEASE VIRUS. MESH:D000820|MESH:D018701 C01.925.782.580.124|C22.152 C01.925.782.580|C22 Animal disease|Viral disease Bornholm Eye Disease MESH:C564092 OMIM:300843 MESH:D009216|MESH:D040181 C11.744.636/C564092|C16.320.322/C564092 C11.744.636|C16.320.322 BED|MYOPIA, HIGH, WITH NONPROGRESSIVE CONE DYSFUNCTION Eye disease|Genetic disease (inborn) Borrelia Infections MESH:D001899 Infections with bacteria of the genus BORRELIA. MESH:D013145 C01.150.252.400.794.352 C01.150.252.400.794 Borrelia Infection|Infection, Borrelia|Infections, Borrelia Bacterial infection or mycosis BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME OMIM:615722 DO:DOID:0112226 MESH:D002658|MESH:D008607|MESH:D009896 C10.292.700.225/615722|C10.597.606.360/615722|C11.640.451/615722|C23.888.592.604.646/615722|F03.625.421/615722|F03.625.539/615722 C10.292.700.225|C10.597.606.360|C11.640.451|C23.888.592.604.646|F03.625.421|F03.625.539 BBSOAS Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Bothnia Retinal Dystrophy MESH:C564392 DO:DOID:0050683|OMIM:607475 MESH:D012164|MESH:D015785 C11.270/C564392|C11.768/C564392|C16.320.290/C564392 C11.270|C11.768|C16.320.290 Vasterbotten Dystrophy Eye disease|Genetic disease (inborn) Botulism MESH:D001906 DO:DOID:11976 A disease caused by potent protein NEUROTOXINS produced by CLOSTRIDIUM BOTULINUM which interfere with the presynaptic release of ACETYLCHOLINE at the NEUROMUSCULAR JUNCTION. Clinical features include abdominal pain, vomiting, acute PARALYSIS (including respiratory paralysis), blurred vision, and DIPLOPIA. Botulism may be classified into several subtypes (e.g., food-borne, infant, wound, and others). (From Adams et al., Principles of Neurology, 6th ed, p1208) MESH:D003015|MESH:D005517|MESH:D020258|MESH:D020511 C01.150.252.410.222.151|C10.668.758.200|C10.720.150|C25.723.415.151 C01.150.252.410.222|C10.668.758|C10.720|C25.723.415 Botulism, Foodborne|Botulism, Infant|Botulism, Infantile|Botulism, Toxico Infectious|Botulism, Toxico-Infectious|Botulism, Wound|Clostridium botulinum Infection|Clostridium botulinum Infections|Foodborne Botulism|Foodborne Botulisms|Infant Botulism|Infant Botulisms|Infantile Botulism|Infection, Clostridium botulinum|Toxico Infectious Botulism|Toxico-Infectious Botulism|Wound Botulism|Wound Botulisms Bacterial infection or mycosis|Nervous system disease Boudhina Yedes Khiari syndrome MESH:C537939 MESH:D004827|MESH:D006130|MESH:D006319|MESH:D008607|MESH:D008831|MESH:D012871 C05.660.207.620/C537939|C09.218.458.341.887/C537939|C10.228.140.490/C537939|C10.500.507.400.500/C537939|C10.597.606.360/C537939|C10.597.751.418.341.887/C537939|C16.131.621.207.620/C537939|C16.131.666.507.400.500/C537939|C17.800/C537939|C23.550.393/C537939|C23.888.592.604.646/C537939|C23.888.592.763.393.341.887/C537939|F03.625.539/C537939 C05.660.207.620|C09.218.458.341.887|C10.228.140.490|C10.500.507.400.500|C10.597.606.360|C10.597.751.418.341.887|C16.131.621.207.620|C16.131.666.507.400.500|C17.800|C23.550.393|C23.888.592.604.646|C23.888.592.763.393.341.887|F03.625.539 Congenital abnormality|Ear-nose-throat disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Boutonneuse Fever MESH:D001907 DO:DOID:14095 A febrile disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with RICKETTSIA CONORII. MESH:D000073605 C01.150.252.400.789.725.400.250|C01.920.930.887.250 C01.150.252.400.789.725.400|C01.920.930.887 Boutonneuse Fevers|Fever, Boutonneuse|Fevers, Boutonneuse|Infection, Rickettsia conorii|Infections, Rickettsia conorii|Mediterranean Spotted Fever|Rickettsia conorii Infection|Rickettsia conorii Infections|Spotted Fever, Mediterranean Bacterial infection or mycosis Bovine Respiratory Disease Complex MESH:D048090 A multifactorial disease of CATTLE resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the IMMUNE SYSTEM and other host defenses and enhancing transmission of infecting agents. MESH:D002418|MESH:D012141 C01.748.085|C08.730.085|C22.196.090 C01.748|C08.730|C22.196 Animal disease|Respiratory tract disease Bovine Virus Diarrhea-Mucosal Disease MESH:D001912 Acute disease of cattle caused by the bovine viral diarrhea viruses (DIARRHEA VIRUSES, BOVINE VIRAL). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality. MESH:D002418|MESH:D018182 C01.925.782.350.675.106|C22.196.106 C01.925.782.350.675|C22.196 Bovine Virus Diarrhea Mucosal Disease|Mucosal Disease, Bovine Viral Diarrhea Animal disease|Viral disease Bowen-Conradi syndrome MESH:C537081 DO:DOID:0050684|OMIM:211180 MESH:D005317|MESH:D011596 C10.597.606.881/C537081|C12.050.703.277.370/C537081|C16.300.390/C537081|C23.550.393.450/C537081|C23.888.592.604.882/C537081 C10.597.606.881|C12.050.703.277.370|C16.300.390|C23.550.393.450|C23.888.592.604.882 Bowen-Conradi Hutterite syndrome|BOWEN HUTTERITE SYNDROME, FORMERLY|BWCNS Fetal disease|Nervous system disease|Pathology (process)|Pregnancy complication|Signs and symptoms Bowen's Disease MESH:D001913 A persistent progressive non-elevated red scaly or crusted plaque which is due to an intradermal carcinoma and is potentially malignant. Atypical squamous cells proliferate through the whole thickness of the epidermis. The lesions may occur anywhere on the skin surface or on mucosal surfaces. The cause most frequently found is trivalent arsenic compounds. Freezing, cauterization or diathermy coagulation is often effective. (From Rook et al., Textbook of Dermatology, 4th ed, pp2428-9) MESH:D002294 C04.557.470.200.400.130|C04.557.470.700.400.130 C04.557.470.200.400|C04.557.470.700.400 Bowen Disease|Bowens Disease|Disease, Bowen|Disease, Bowen's Cancer Bowen syndrome MESH:C538164 MESH:D000015|MESH:D003286|MESH:D005901|MESH:D019066 C05.550.323/C538164|C05.651.197/C538164|C11.525.381/C538164|C16.131.077/C538164|C23.550.291.812/C538164 C05.550.323|C05.651.197|C11.525.381|C16.131.077|C23.550.291.812 Bowen syndrome of multiple malformations Congenital abnormality|Eye disease|Musculoskeletal disease|Pathology (process) Boylan Dew Greco syndrome MESH:C537083 MESH:D001176|MESH:D003711 C05.550.150/C537083|C05.651.102/C537083|C05.660.077/C537083|C10.314/C537083|C16.131.621.077/C537083 C05.550.150|C05.651.102|C05.660.077|C10.314|C16.131.621.077 Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita Congenital abnormality|Musculoskeletal disease|Nervous system disease Bpes With Duane Retraction Syndrome MESH:C566222 MESH:D004370|MESH:D016569 C10.292.562.700.375.500/C566222|C11.250.090/C566222|C11.270.235/C566222|C11.338.190/C566222|C11.590.436.400.500/C566222|C16.131.384.190/C566222|C16.320.290.235/C566222 C10.292.562.700.375.500|C11.250.090|C11.270.235|C11.338.190|C11.590.436.400.500|C16.131.384.190|C16.320.290.235 Bpes, Type I, Autosomal Recessive|Bpes Without Ovarian Failure|Bpes With Ovarian Failure Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Brachial Palsy, Familial Congenital MESH:C563901 MESH:D020516 C10.668.829.100/C563901 C10.668.829.100 Nervous system disease Brachial Plexus Neuritis MESH:D020968 DO:DOID:10383|DO:DOID:3689|OMIM:162100 A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6) MESH:D009443|MESH:D020516 C10.668.829.100.500|C10.668.829.650.250 C10.668.829.100|C10.668.829.650 Amyotrophic Neuralgia|Amyotrophic Neuralgias|Amyotrophies, Hereditary Neuralgic|Amyotrophies, Neuralgic|Amyotrophy, Hereditary Neuralgic|Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus|Amyotrophy, Neuralgic|Brachial Neuralgia|Brachial Neuralgias|Brachial Neuritides|Brachial Neuritis|Brachial Plexus Neuritides|Brachial Plexus Neuropathy, Hereditary|Cervicobrachial Neuralgia|Cervico Brachial Neuralgia|Cervico-Brachial Neuralgia|Cervicobrachial Neuralgias|Cervico-Brachial Neuralgias|Familial Brachial Plexus Neuritis|Girdle Neuropathies, Shoulder|Girdle Neuropathy, Shoulder|Hereditary Brachial Plexus Neuropathy|Hereditary Neuralgic Amyotrophies|Hereditary Neuralgic Amyotrophy|Heredofamilial Neuritis with Brachial Plexus Predilection|HNA|NAPB|Neuralgia, Amyotrophic|Neuralgia, Brachial|Neuralgia, Cervicobrachial|Neuralgia, Cervico-Brachial|Neuralgias, Amyotrophic|Neuralgias, Brachial|Neuralgias, Cervicobrachial|Neuralgias, Cervico-Brachial|Neuralgic Amyotrophies|Neuralgic Amyotrophies, Hereditary|Neuralgic Amyotrophy|Neuralgic Amyotrophy, Hereditary|Neuritides, Brachial|Neuritides, Brachial Plexus|Neuritis, Brachial|Neuritis, Brachial Plexus|Neuritis With Brachial Predilection|Neuropathies, Shoulder Girdle|Neuropathies, Shoulder-Girdle|Neuropathy, Shoulder Girdle|Neuropathy, Shoulder-Girdle|Parsonage Aldren Turner Syndrome|Parsonage-Aldren-Turner Syndrome|Parsonage Turner Syndrome|Parsonage-Turner Syndrome|Shoulder Girdle Neuropathies|Shoulder-Girdle Neuropathies|Shoulder Girdle Neuropathy|Shoulder-Girdle Neuropathy|Syndrome, Parsonage-Aldren-Turner|Syndrome, Parsonage-Turner Nervous system disease Brachial Plexus Neuropathies MESH:D020516 DO:DOID:3690 Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2) MESH:D010523 C10.668.829.100 C10.668.829 Brachial Plexopathy|Brachial Plexus Disease|Brachial Plexus Diseases|Brachial Plexus Disorder|Brachial Plexus Disorders|Brachial Plexus Neuropathy|Dejerine Klumpke Palsy|Dejerine-Klumpke Palsy|Erb-Duchenne Paralyses|Erb Duchenne Paralysis|Erb-Duchenne Paralysis|Erb Palsy|Erb Paralyses|Erb Paralysis|Erb's Palsies|Erb's Palsy|Erbs Palsy|Klumpke Palsy|Klumpke Paralysis|Klumpke's Palsy|Klumpkes Palsy|Lower Brachial Plexus Neuropathy|Lower Brachial Plexus Palsy|Middle Brachial Plexus Neuropathy|Neuropathies, Brachial Plexus|Neuropathy, Brachial Plexus|Palsies, Erb's|Palsy, Dejerine-Klumpke|Palsy, Erb's|Palsy, Klumpke's|Paralyses, Erb|Paralyses, Erb-Duchenne|Paralysis, Erb|Paralysis, Erb-Duchenne|Paralysis, Klumpke|Paralysis of the Lower Brachial Plexus|Plexopathies, Brachial|Plexopathy, Brachial|Plexus Disease, Brachial|Plexus Diseases, Brachial|Plexus Disorder, Brachial|Plexus Disorders, Brachial|Plexus Neuropathies, Brachial|Plexus Neuropathy, Brachial|Upper Brachial Plexus Neuropathy Nervous system disease Brachioskeletogenital syndrome MESH:C537084 MESH:D001848 C05.116.099/C537084 C05.116.099 Musculoskeletal disease Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay MESH:C566206 MESH:D003635 C10.597.606.360.210/C566206|C16.131.077.272/C566206|C16.131.260.210/C566206|C16.320.180.210/C566206 C10.597.606.360.210|C16.131.077.272|C16.131.260.210|C16.320.180.210 Congenital abnormality|Genetic disease (inborn)|Nervous system disease BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY OMIM:617412 DO:DOID:0070415 MESH:D002658|MESH:D003398|MESH:D006201 C05.116.099.370.894.232/617412|C05.660.207.240/617412|C05.660.906.364/617412|C16.131.621.207.240/617412|C16.131.621.906.364/617412|C17.800.329/617412|F03.625.421/617412 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364|C17.800.329|F03.625.421 BTDD|MACINNES SYNDROME|MCINS Congenital abnormality|Mental disorder|Musculoskeletal disease|Skin disease Brachydactylous dwarfism Mseleni type MESH:C537086 MESH:D004392|MESH:D007592|MESH:D010003 C05.116.099.343/C537086|C05.550.114.606/C537086|C05.550/C537086|C05.799.613/C537086|C16.320.240/C537086|C19.297/C537086 C05.116.099.343|C05.550|C05.550.114.606|C05.799.613|C16.320.240|C19.297 Brachydactylous dwarfs of Mseleni Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Brachydactyly MESH:D059327 DO:DOID:0050581 Congenital anomaly of abnormally short fingers or toes. MESH:D017880 C05.660.585.262|C16.131.621.585.262 C05.660.585|C16.131.621.585 Brachydactylia|Brachydactylias|Brachydactylies|Brachydactylism|Brachydactylisms Congenital abnormality|Musculoskeletal disease Brachydactyly, Coloboma, And Anterior Segment Dysgenesis MESH:C566484 MESH:D003103|MESH:D059327 C05.660.585.262/C566484|C11.250.110/C566484|C11.270.147/C566484|C16.131.384.282/C566484|C16.131.621.585.262/C566484 C05.660.585.262|C11.250.110|C11.270.147|C16.131.384.282|C16.131.621.585.262 Congenital abnormality|Eye disease|Musculoskeletal disease Brachydactyly, Intraventricular Septal Defect, And Deafness MESH:C566521 MESH:D000015|MESH:D006319|MESH:D006345|MESH:D059327 C05.660.585.262/C566521|C09.218.458.341.887/C566521|C10.597.751.418.341.887/C566521|C14.240.400.560.540/C566521|C14.280.400.560.540/C566521|C16.131.077/C566521|C16.131.240.400.560.540/C566521|C16.131.621.585.262/C566521|C23.888.592.763.393.341.887/C566521 C05.660.585.262|C09.218.458.341.887|C10.597.751.418.341.887|C14.240.400.560.540|C14.280.400.560.540|C16.131.077|C16.131.240.400.560.540|C16.131.621.585.262|C23.888.592.763.393.341.887 Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Brachydactyly, Long-Thumb Type MESH:C566204 MESH:D059327 C05.660.585.262/C566204|C16.131.621.585.262/C566204 C05.660.585.262|C16.131.621.585.262 Congenital abnormality|Musculoskeletal disease Brachydactyly-Nystagmus-Cerebellar Ataxia MESH:C566192 MESH:D002524|MESH:D020417|MESH:D059327 C05.660.585.262/C566192|C10.228.140.252.190/C566192|C10.292.562.675.300/C566192|C10.597.350.090.500/C566192|C11.590.400.300/C566192|C16.131.621.585.262/C566192|C16.614.643/C566192|C23.888.592.350.090.200/C566192 C05.660.585.262|C10.228.140.252.190|C10.292.562.675.300|C10.597.350.090.500|C11.590.400.300|C16.131.621.585.262|C16.614.643|C23.888.592.350.090.200 Congenital abnormality|Eye disease|Infant-newborn disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Brachydactyly preaxial with hallux varus and thumb abduction MESH:C537087 MESH:D050488|MESH:D059327 C05.330.612/C537087|C05.660.585.262/C537087|C16.131.621.585.262/C537087 C05.330.612|C05.660.585.262|C16.131.621.585.262 Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction|Christian Brachydactyly|Dominant preaxial brachydactyly with hallux varus and thumb abduction Congenital abnormality|Musculoskeletal disease Brachydactyly-Syndactyly Syndrome MESH:C565193 DO:DOID:0050689|OMIM:610713 MESH:D013576|MESH:D059327 C05.116.099.370.894.819/C565193|C05.660.585.262/C565193|C05.660.585.800/C565193|C05.660.906.819/C565193|C16.131.621.585.262/C565193|C16.131.621.585.800/C565193|C16.131.621.906.819/C565193 C05.116.099.370.894.819|C05.660.585.262|C05.660.585.800|C05.660.906.819|C16.131.621.585.262|C16.131.621.585.800|C16.131.621.906.819 BDSD|BDSDO,|BDSDO, INCLUDED|BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME, INCLUDED Congenital abnormality|Musculoskeletal disease Brachydactyly type A1 MESH:C537088 DO:DOID:0110964|OMIM:112500 MESH:D059327 C05.660.585.262/C537088|C16.131.621.585.262/C537088 C05.660.585.262|C16.131.621.585.262 BDA1|Brachydactyly, Farabee type|Brachydactyly, Type A1|Farabee-Type Brachydactyly Congenital abnormality|Musculoskeletal disease Brachydactyly, Type A1, B MESH:C564635 OMIM:607004 MESH:D059327 C05.660.585.262/C564635|C16.131.621.585.262/C564635 C05.660.585.262|C16.131.621.585.262 BDA1B Congenital abnormality|Musculoskeletal disease BRACHYDACTYLY, TYPE A1, C OMIM:615072 DO:DOID:0110977 MESH:D059327 C05.660.585.262/615072|C16.131.621.585.262/615072 C05.660.585.262|C16.131.621.585.262 BDA1C Congenital abnormality|Musculoskeletal disease BRACHYDACTYLY, TYPE A1, D OMIM:616849 DO:DOID:0110978 MESH:D059327 C05.660.585.262/616849|C16.131.621.585.262/616849 C05.660.585.262|C16.131.621.585.262 BDA1D Congenital abnormality|Musculoskeletal disease Brachydactyly type A2 MESH:C537089 DO:DOID:0110965|OMIM:112600 MESH:D059327 C05.660.585.262/C537089|C16.131.621.585.262/C537089 C05.660.585.262|C16.131.621.585.262 BDA2|Brachydactyly, Type A2|Brachymesophalangy 2|Brachymesophalangy Ii|Mohr-Wriedt type brachydactyly Congenital abnormality|Musculoskeletal disease Brachydactyly, Type A2, With Microcephaly MESH:C565894 MESH:D008831|MESH:D059327 C05.660.207.620/C565894|C05.660.585.262/C565894|C10.500.507.400.500/C565894|C16.131.621.207.620/C565894|C16.131.621.585.262/C565894|C16.131.666.507.400.500/C565894 C05.660.207.620|C05.660.585.262|C10.500.507.400.500|C16.131.621.207.620|C16.131.621.585.262|C16.131.666.507.400.500 Congenital abnormality|Musculoskeletal disease|Nervous system disease Brachydactyly type A3 MESH:C537090 DO:DOID:0110966 MESH:D059327 C05.660.585.262/C537090|C16.131.621.585.262/C537090 C05.660.585.262|C16.131.621.585.262 Brachydactyly-clinodactyly|Brachydactyly, Type A3|Brachymesophalangy 5|Brachymesophalangy V Congenital abnormality|Musculoskeletal disease Brachydactyly type A5 nail dysplasia MESH:C537091 MESH:D009260|MESH:D059327 C05.660.585.262/C537091|C16.131.621.585.262/C537091|C17.800.529/C537091 C05.660.585.262|C16.131.621.585.262|C17.800.529 Absent middle phalanges of digits 2-5 with nail dysplasia|Brachydactyly, Type A5, With Nail Dysplasia Congenital abnormality|Musculoskeletal disease|Skin disease Brachydactyly type A6 MESH:C537092 DO:DOID:0110968 MESH:D059327 C05.660.585.262/C537092|C16.131.621.585.262/C537092 C05.660.585.262|C16.131.621.585.262 Brachydactyly, Type A6|Osebold-Remondini syndrome Congenital abnormality|Musculoskeletal disease Brachydactyly, Type B1 MESH:C566196 OMIM:113000 MESH:D059327 C05.660.585.262/C566196|C16.131.621.585.262/C566196 C05.660.585.262|C16.131.621.585.262 BDB|BDB1|Brachydactyly, Type B Congenital abnormality|Musculoskeletal disease BRACHYDACTYLY, TYPE B2 OMIM:611377 DO:DOID:0110975 MESH:D059327 C05.660.585.262/611377|C16.131.621.585.262/611377 C05.660.585.262|C16.131.621.585.262 BDB2 Congenital abnormality|Musculoskeletal disease Brachydactyly type C MESH:C537093 DO:DOID:0110970|OMIM:113100 MESH:D059327 C05.660.585.262/C537093|C16.131.621.585.262/C537093 C05.660.585.262|C16.131.621.585.262 BDC|Brachydactyly Haws type|Brachydactyly, Haws Type|Brachydactyly, Type C Congenital abnormality|Musculoskeletal disease Brachydactyly, Type D MESH:C562420 OMIM:113200 MESH:D059327 C05.660.585.262/C562420|C16.131.621.585.262/C562420 C05.660.585.262|C16.131.621.585.262 BDD|Stub Thumb Congenital abnormality|Musculoskeletal disease Brachydactyly, Type E MESH:C566194 MESH:D059327 C05.660.585.262/C566194|C16.131.621.585.262/C566194 C05.660.585.262|C16.131.621.585.262 Congenital abnormality|Musculoskeletal disease BRACHYDACTYLY, TYPE E1 OMIM:113300 DO:DOID:0110972 MESH:C566194|MESH:D005532|MESH:D006228 C05.330.495/113300|C05.390.408/113300|C05.660.585.262/C566194/113300|C05.660.585.512.380/113300|C05.660.585.988.425/113300|C16.131.621.585.262/C566194/113300|C16.131.621.585.512.500/113300|C16.131.621.585.988.500/113300 C05.330.495|C05.390.408|C05.660.585.262/C566194|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.262/C566194|C16.131.621.585.512.500|C16.131.621.585.988.500 BDE|BDE1|BRACHYDACTYLY, TYPE E Congenital abnormality|Musculoskeletal disease BRACHYDACTYLY, TYPE E2 OMIM:613382 DO:DOID:0110976 MESH:D005532|MESH:D006130|MESH:D006228 C05.330.495/613382|C05.390.408/613382|C05.660.585.512.380/613382|C05.660.585.988.425/613382|C16.131.621.585.512.500/613382|C16.131.621.585.988.500/613382|C23.550.393/613382 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500|C23.550.393 BDE2 Congenital abnormality|Musculoskeletal disease|Pathology (process) Brachydactyly, Type E, with Atrial Septal Defect, Type II MESH:C566193 MESH:D059327 C05.660.585.262/C566193|C16.131.621.585.262/C566193 C05.660.585.262|C16.131.621.585.262 Congenital abnormality|Musculoskeletal disease Brachydactyly types B and E combined MESH:C537094 MESH:D059327 C05.660.585.262/C537094|C16.131.621.585.262/C537094 C05.660.585.262|C16.131.621.585.262 Brachydactyly Ballard type|Brachydactyly, Ballard Type|Brachydactyly, combined B and E types|Pitt Williams brachydactyly|Pitt-Williams Brachydactyly Congenital abnormality|Musculoskeletal disease Brachydactyly with hypertension MESH:C537095 DO:DOID:0111247|OMIM:112410 MESH:D006973|MESH:D059327 C05.660.585.262/C537095|C14.907.489/C537095|C16.131.621.585.262/C537095 C05.660.585.262|C14.907.489|C16.131.621.585.262 Bilginturan syndrome|Brachydactyly type E with short stature and hypertension|Brachydactyly, Type E, With Short Stature And Hypertension|BRACHYDACTYLY WITH HYPERTENSION|HTNB|HYPERTENSION AND BRACHYDACTYLY SYNDROME|Hypertension With Brachydactyly Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Brachymesomelia renal syndrome MESH:C537096 MESH:D000015|MESH:D001848|MESH:D003317|MESH:D019465|MESH:D052177 C05.116.099/C537096|C05.660.207/C537096|C11.204.236/C537096|C11.270.162/C537096|C12.050.351.968.419.403/C537096|C12.200.777.419.403/C537096|C12.950.419.403/C537096|C16.131.077/C537096|C16.131.621.207/C537096|C16.320.290.162/C537096 C05.116.099|C05.660.207|C11.204.236|C11.270.162|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.077|C16.131.621.207|C16.320.290.162 Brachymesomelia-renal syndrome|Langer Nishino Yamaguchi syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Brachymesophalangy 2 and 5 MESH:C537097 MESH:D059327 C05.660.585.262/C537097|C16.131.621.585.262/C537097 C05.660.585.262|C16.131.621.585.262 Brachydactyly Temtamy type|Brachydactyly, type A4|Brachymesophalangy II And V|Temtamy type brachydactyly Congenital abnormality|Musculoskeletal disease Brachymetapody-Anodontia-Hypotrichosis-Albinoidism MESH:C565893 MESH:D000417|MESH:D000848|MESH:D004392|MESH:D005124|MESH:D007039 C05.116.099.343/C565893|C07.650.800.100/C565893|C07.793.700.100/C565893|C11.250/C565893|C11.270.040/C565893|C16.131.384/C565893|C16.131.850.800.100/C565893|C16.320.240/C565893|C16.320.290.040/C565893|C16.320.565.100.102/C565893|C16.320.850.080/C565893|C17.800.329.937/C565893|C17.800.621.440.102/C565893|C17.800.827.080/C565893|C18.452.648.100.102/C565893|C19.297/C565893 C05.116.099.343|C07.650.800.100|C07.793.700.100|C11.250|C11.270.040|C16.131.384|C16.131.850.800.100|C16.320.240|C16.320.290.040|C16.320.565.100.102|C16.320.850.080|C17.800.329.937|C17.800.621.440.102|C17.800.827.080|C18.452.648.100.102|C19.297 Anodontia-Hypotrichosis Syndrome|Oculoosteocutaneous Syndrome Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Mouth disease|Musculoskeletal disease|Skin disease Brachymorphism-onychodysplasia-dysphalangism syndrome MESH:C536242 MESH:D009264|MESH:D017880 C05.660.585/C536242|C16.131.621.585/C536242|C23.300.820/C536242 C05.660.585|C16.131.621.585|C23.300.820 Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition) Brachyolmia MESH:C537098 DO:DOID:0050690 MESH:D010009 C05.116.099.708/C537098|C16.320.728/C537098 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Brachyolmia, recessive Hobaek type MESH:C537099 MESH:D010009|MESH:D017880 C05.116.099.708/C537099|C05.660.585/C537099|C16.131.621.585/C537099|C16.320.728/C537099 C05.116.099.708|C05.660.585|C16.131.621.585|C16.320.728 Brachyolmia, Recessive Type Of Hobaek|Brachyolmia Type 1, Hobaek Type|Spondylodysplasia with pure brachyolmia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Brachyolmia Type 2 MESH:C563218 MESH:D010009 C05.116.099.708/C563218|C16.320.728/C563218 C05.116.099.708|C16.320.728 Brachyolmia, Maroteaux Type|Spondyloepiphyseal Dysplasia, Maroteaux Type Genetic disease (inborn)|Musculoskeletal disease Brachyolmia Type 3 MESH:C562963 OMIM:113500 MESH:D010009 C05.116.099.708/C562963|C16.320.728/C562963 C05.116.099.708|C16.320.728 BCYM3|Brachyolmia, Autosomal Dominant|Brachyrachia Genetic disease (inborn)|Musculoskeletal disease Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia MESH:C537100 MESH:D005532|MESH:D017689|MESH:D019465 C05.330.495/C537100|C05.660.207/C537100|C05.660.585.512.380/C537100|C05.660.585.600/C537100|C16.131.621.207/C537100|C16.131.621.585.512.500/C537100|C16.131.621.585.600/C537100 C05.330.495|C05.660.207|C05.660.585.512.380|C05.660.585.600|C16.131.621.207|C16.131.621.585.512.500|C16.131.621.585.600 Brachyphalangy, polydactyly and absent tibiae Congenital abnormality|Musculoskeletal disease Brachytelephalangic Chondrodysplasia Punctata MESH:C000705207 MESH:D002806 C05.116.099.708.195/C000705207 C05.116.099.708.195 Chondrodysplasia punctata, brachytelephalangic Musculoskeletal disease Brachytelephalangy characteristic facies Kallmann MESH:C537101 MESH:D017436|MESH:D019066|MESH:D019465 C05.660.207/C537101|C12.050.351.875.253.096.750/C537101|C12.200.706.316.096.750/C537101|C12.800.316.096.750/C537101|C16.131.621.207/C537101|C16.131.939.316.096.750/C537101|C16.320.467/C537101|C19.391.119.096.750/C537101|C19.391.482.600/C537101|C23.550.291.812/C537101 C05.660.207|C12.050.351.875.253.096.750|C12.200.706.316.096.750|C12.800.316.096.750|C16.131.621.207|C16.131.939.316.096.750|C16.320.467|C19.391.119.096.750|C19.391.482.600|C23.550.291.812 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome|Characteristic craniofacial appearance and brachytelephalangy Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Bradycardia MESH:D001919 Cardiac arrhythmias that are characterized by excessively slow HEART RATE, usually below 50 beats per minute in human adults. They can be classified broadly into SINOATRIAL NODE dysfunction and ATRIOVENTRICULAR BLOCK. MESH:D001145 C14.280.067.319|C23.550.073.300 C14.280.067|C23.550.073 Bradyarrhythmia|Bradyarrhythmias|Bradycardias Cardiovascular disease|Pathology (process) Brain Abscess MESH:D001922 A circumscribed collection of purulent exudate in the brain, due to bacterial and other infections. The majority are caused by spread of infected material from a focus of suppuration elsewhere in the body, notably the PARANASAL SINUSES, middle ear (see EAR, MIDDLE); HEART (see also ENDOCARDITIS, BACTERIAL), and LUNG. Penetrating CRANIOCEREBRAL TRAUMA and NEUROSURGICAL PROCEDURES may also be associated with this condition. Clinical manifestations include HEADACHE; SEIZURES; focal neurologic deficits; and alterations of consciousness. (Adams et al., Principles of Neurology, 6th ed, pp712-6) MESH:D000038|MESH:D001927|MESH:D002494 C01.207.090|C01.830.025.160|C10.228.140.116|C10.228.228.090 C01.207|C01.830.025|C10.228.140|C10.228.228 Abscess, Brain|Abscess, Cerebral|Abscess, Child Brain|Abscesses, Cerebral|Abscesses, Multiple Brain|Abscess, Multiple Brain|Abscess, Pyogenic Brain|Brain Abscess, Child|Brain Abscesses|Brain Abscesses, Multiple|Brain Abscesses, Pyogenic|Brain Abscesses, Sterile|Brain Abscess, Multiple|Brain Abscess, Pyogenic|Brain Abscess, Sterile|Cerebral Abscess|Cerebral Abscesses|Child Brain Abscess|Multiple Brain Abscess|Multiple Brain Abscesses|Pyogenic Brain Abscess|Pyogenic Brain Abscesses|Sterile Brain Abscess|Sterile Brain Abscesses Nervous system disease Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia MESH:C564519 MESH:D000013|MESH:D004476|MESH:D006627|MESH:D008607|MESH:D040181 C06.198.439/C564519|C06.405.469.158.701.439/C564519|C10.597.606.360/C564519|C16.131.077.350/C564519|C16.131.314.439/C564519|C16.131.831.350/C564519|C16.131/C564519|C16.320.322/C564519|C16.320.850.250/C564519|C17.800.804.350/C564519|C17.800.827.250/C564519|C23.888.592.604.646/C564519|F03.625.539/C564519 C06.198.439|C06.405.469.158.701.439|C10.597.606.360|C16.131|C16.131.077.350|C16.131.314.439|C16.131.831.350|C16.320.322|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.888.592.604.646|F03.625.539 Bresek Syndrome|Bresheck Syndrome Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Brain Concussion MESH:D001924 A nonspecific term used to describe transient alterations or loss of consciousness following closed head injuries. The duration of UNCONSCIOUSNESS generally lasts a few seconds, but may persist for several hours. Concussions may be classified as mild, intermediate, and severe. Prolonged periods of unconsciousness (often defined as greater than 6 hours in duration) may be referred to as post-traumatic coma (COMA, POST-HEAD INJURY). (From Rowland, Merritt's Textbook of Neurology, 9th ed, p418) MESH:D000070642|MESH:D016489 C10.228.140.199.444.250|C10.900.300.087.235.250|C10.900.300.350.300|C26.915.300.200.194.250|C26.915.300.450.500|C26.974.382.200 C10.228.140.199.444|C10.900.300.087.235|C10.900.300.350|C26.915.300.200.194|C26.915.300.450|C26.974.382 Brain Concussions|Cerebral Concussion|Cerebral Concussions|Commotio Cerebri|Concussion, Brain|Concussion, Cerebral|Concussion, Intermediate|Concussion, Mild|Concussion, Severe|Intermediate Concussion|Intermediate Concussions|Mild Concussion|Mild Concussions|Mild Traumatic Brain Injury|Severe Concussion|Severe Concussions Nervous system disease|Wounds and injuries Brain Contusion MESH:D000070624 A bruise of the brain from an impact of the skull. MESH:D000070642|MESH:D003288 C10.228.140.199.444.375|C10.900.300.087.235.375|C26.915.300.200.194.375|C26.974.250.500 C10.228.140.199.444|C10.900.300.087.235|C26.915.300.200.194|C26.974.250 Brain Contusions|Cerebellar Contusion|Cerebellar Contusions|Cerebral Contusion|Cerebral Contusions|Contusio Cerebri|Contusion, Brain|Contusion, Cerebellar|Contusion, Cerebral|Contusion, Cortical|Contusions, Brain|Contusions, Cerebellar|Contusions, Cerebral|Contusions, Cortical|Cortical Contusion|Cortical Contusions Nervous system disease|Wounds and injuries Brain Damage, Chronic MESH:D001925 A condition characterized by long-standing brain dysfunction or damage, usually of three months duration or longer. Potential etiologies include BRAIN INFARCTION; certain NEURODEGENERATIVE DISORDERS; CRANIOCEREBRAL TRAUMA; ANOXIA, BRAIN; ENCEPHALITIS; certain NEUROTOXICITY SYNDROMES; metabolic disorders (see BRAIN DISEASES, METABOLIC); and other conditions. MESH:D001927|MESH:D002908 C10.228.140.140|C23.550.291.500.063 C10.228.140|C23.550.291.500 Chronic Brain Damage|Chronic Encephalopathy|Encephalopathy, Chronic Nervous system disease|Pathology (process) Brain Death MESH:D001926 A state of prolonged irreversible cessation of all brain activity, including lower brain stem function with the complete absence of voluntary movements, responses to stimuli, brain stem reflexes, and spontaneous respirations. Reversible conditions which mimic this clinical state (e.g., sedative overdose, hypothermia, etc.) are excluded prior to making the determination of brain death. (From Adams et al., Principles of Neurology, 6th ed, pp348-9) MESH:D001927|MESH:D003128|MESH:D003643 C10.228.140.151|C10.597.606.358.800.200.100|C23.550.260.159 C10.228.140|C10.597.606.358.800.200|C23.550.260 Brain Dead|Brain Deads|Coma Depasse|Coma, Irreversible|Death, Brain|Irreversible Coma Nervous system disease|Pathology (process) Brain Diseases MESH:D001927 DO:DOID:936 Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM. MESH:D002493 C10.228.140 C10.228 Brain Disease|Brain Disorder|Brain Disorders|Central Nervous System Disorders, Intracranial|Central Nervous System Intracranial Disorders|CNS Disorder, Intracranial|CNS Disorders, Intracranial|Encephalon Disease|Encephalon Diseases|Encephalopathies|Encephalopathy|Intracranial Central Nervous System Disorders|Intracranial CNS Disorder|Intracranial CNS Disorders Nervous system disease Brain Diseases, Metabolic MESH:D001928 Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function. MESH:D001927|MESH:D008659 C10.228.140.163|C18.452.132 C10.228.140|C18.452 Acquired Metabolic Diseases, Brain|Acquired Metabolic Diseases, Nervous System|Acquired Metabolic Encephalopathies|Acquired Metabolic Encephalopathy|Brain Disease, Metabolic|Brain Diseases, Metabolic, Acquired|Brain Disorder, Metabolic|Brain Disorders, Metabolic|Brain Disorders, Metabolic, Acquired|Brain Metabolic Disorder|Brain Metabolic Disorders|Brain Syndrome, Metabolic|Brain Syndrome, Metabolic, Acquired|Central Nervous System Metabolic Disorders|CNS Metabolic Disorder|CNS Metabolic Disorders|CNS Metabolic Disorders, Acquired|Encephalopathies, Acquired Metabolic|Encephalopathies, Metabolic|Encephalopathy, Acquired Metabolic|Encephalopathy, Metabolic|Encephalopathy, Metabolic, Acquired|Metabolic Brain Disease|Metabolic Brain Diseases|Metabolic Brain Diseases, Acquired|Metabolic Brain Disorder|Metabolic Brain Disorders|Metabolic Brain Syndrome|Metabolic Brain Syndrome, Acquired|Metabolic Brain Syndromes|Metabolic Brain Syndromes, Acquired|Metabolic Diseases, Acquired, Nervous System|Metabolic Disorder, Brain|Metabolic Disorder, Central Nervous System, Acquired|Metabolic Disorder, CNS|Metabolic Disorders, Brain|Metabolic Disorders, Central Nervous System|Metabolic Disorders, CNS|Metabolic Disorders, CNS, Acquired|Metabolic Encephalopathies|Metabolic Encephalopathies, Acquired|Metabolic Encephalopathy|Metabolic Encephalopathy, Acquired|Nervous System Acquired Metabolic Diseases Metabolic disease|Nervous system disease Brain Diseases, Metabolic, Inborn MESH:D020739 Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. MESH:D001928|MESH:D008661 C10.228.140.163.100|C16.320.565.189|C18.452.132.100|C18.452.648.189 C10.228.140.163|C16.320.565|C18.452.132|C18.452.648 Brain Diseases, Metabolic, Familial|Brain Diseases, Metabolic, Inherited|Brain Syndrome, Metabolic, Inborn|Central Nervous System Inborn Metabolic Diseases|Central Nervous System Inborn Metabolic Disorders|CNS Metabolic Disorders, Inborn|Encephalopathies, Metabolic, Inborn|Familial Metabolic Brain Diseases|Familial Metabolic Disorders, Brain|Inborn Errors of Metabolism, Brain|Inborn Metabolic Brain Diseases|Inborn Metabolic Brain Disorders|Inborn Metabolic Disorders, Brain|Inherited Metabolic Brain Diseases|Inherited Metabolic Disorders, Brain|Metabolic Brain Diseases, Familial|Metabolic Brain Diseases, Inborn|Metabolic Brain Diseases, Inherited|Metabolic Brain Syndrome, Inborn|Metabolic Diseases, Inborn, Brain|Metabolic Diseases, Inborn, Central Nervous System|Metabolic Disorders, Brain, Inherited|Metabolic Disorders, CNS, Inborn|Metabolic Disorders, Familial, Brain Genetic disease (inborn)|Metabolic disease|Nervous system disease Brain Edema MESH:D001929 DO:DOID:4724 Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6) MESH:D001927 C10.228.140.187 C10.228.140 Brain Edema, Cytotoxic|Brain Edema, Vasogenic|Brain Swelling|Brain Swellings|Cerebral Edema|Cerebral Edema, Cytotoxic|Cerebral Edemas, Vasogenic|Cerebral Edema, Vasogenic|Cytotoxic Brain Edema|Cytotoxic Cerebral Edema|Edema, Brain|Edema, Cerebral|Edema, Cytotoxic Brain|Edema, Cytotoxic Cerebral|Edema, Intracranial|Edema, Vasogenic Brain|Edema, Vasogenic Cerebral|Intracranial Edema|Swelling, Brain|Vasogenic Brain Edema|Vasogenic Cerebral Edema Nervous system disease brain fag MESH:C000711647 MESH:D005222|MESH:D013001 C23.888.369.500/C000711647|F03.875/C000711647 C23.888.369.500|F03.875 Mental disorder|Signs and symptoms Brain Hemorrhage, Traumatic MESH:D020201 Bleeding within the brain as a result of penetrating and nonpenetrating CRANIOCEREBRAL TRAUMA. Traumatically induced hemorrhages may occur in any area of the brain, including the CEREBRUM; BRAIN STEM (see BRAIN STEM HEMORRHAGE, TRAUMATIC); and CEREBELLUM. MESH:D001930|MESH:D020198 C10.228.140.199.275|C10.228.140.300.535.450.200|C10.900.300.087.187|C10.900.300.837.150|C14.907.253.573.400.150|C26.915.300.200.175|C26.915.300.490.150 C10.228.140.199|C10.228.140.300.535.450|C10.900.300.087|C10.900.300.837|C14.907.253.573.400|C26.915.300.200|C26.915.300.490 Brain Hemorrhages, Traumatic|Cerebellar Hemorrhages, Traumatic|Cerebellar Hemorrhage, Traumatic|Hemorrhages, Traumatic Cerebellar|Hemorrhage, Traumatic Brain|Hemorrhage, Traumatic Cerebellar|Traumatic Brain Hemorrhage|Traumatic Brain Hemorrhages|Traumatic Cerebellar Hemorrhage|Traumatic Cerebellar Hemorrhages Cardiovascular disease|Nervous system disease|Wounds and injuries Brain Infarction MESH:D020520 DO:DOID:3454 Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis. MESH:D002545|MESH:D007238|MESH:D020521 C10.228.140.300.150.477|C10.228.140.300.775.200|C14.907.253.092.477|C14.907.253.855.200|C23.550.513.355.250|C23.550.717.489.250 C10.228.140.300.150|C10.228.140.300.775|C14.907.253.092|C14.907.253.855|C23.550.513.355|C23.550.717.489 Anterior Cerebral Circulation Infarction|Anterior Circulation Brain Infarction|Anterior Circulation Infarction, Brain|Brain Infarct|Brain Infarction, Anterior Circulation|Brain Infarction, Posterior Circulation|Brain Infarctions|Brain Infarctions, Venous|Brain Infarction, Venous|Brain Infarcts|Brain Venous Infarction|Brain Venous Infarctions|Infarct, Brain|Infarction, Anterior Cerebral Circulation|Infarction, Anterior Circulation, Brain|Infarction, Brain|Infarction, Brain, Anterior Circulation|Infarction, Brain, Posterior Circulation|Infarction, Brain Venous|Infarction, Posterior Circulation, Brain|Infarctions, Brain|Infarctions, Brain Venous|Infarctions, Venous Brain|Infarction, Venous Brain|Infarcts, Brain|Posterior Circulation Brain Infarction|Posterior Circulation Infarction, Brain|Venous Brain Infarction|Venous Brain Infarctions|Venous Infarction, Brain|Venous Infarctions, Brain Cardiovascular disease|Nervous system disease|Pathology (process) Brain Injuries MESH:D001930 Acute and chronic (see also BRAIN INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and BRAIN STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits. MESH:D001927|MESH:D006259 C10.228.140.199|C10.900.300.087|C26.915.300.200 C10.228.140|C10.900.300|C26.915.300 Acute Brain Injuries|Acute Brain Injury|Brain Injuries, Acute|Brain Injuries, Focal|Brain Injury|Brain Injury, Acute|Brain Injury, Focal|Brain Laceration|Brain Lacerations|Focal Brain Injuries|Focal Brain Injury|Injuries, Acute Brain|Injuries, Brain|Injuries, Focal Brain|Injury, Acute Brain|Injury, Brain|Injury, Focal Brain|Laceration, Brain|Lacerations, Brain Nervous system disease|Wounds and injuries Brain Injuries, Diffuse MESH:D000070625 Brain injuries occurring over a wide area instead of specific focal area. MESH:D001930 C10.228.140.199.388|C10.900.300.087.219|C26.915.300.200.188 C10.228.140.199|C10.900.300.087|C26.915.300.200 Brain Injury, Diffuse|Cerebral Injuries, Diffuse|Cerebral Injury, Diffuse|Diffuse Axonal Brain Injury|Diffuse Brain Injuries|Diffuse Brain Injury|Diffuse Cerebral Injuries|Diffuse Cerebral Injury Nervous system disease|Wounds and injuries Brain Injuries, Traumatic MESH:D000070642 A form of acquired brain injury which occurs when a sudden trauma causes damage to the brain. MESH:D001930 C10.228.140.199.444|C10.900.300.087.235|C26.915.300.200.194 C10.228.140.199|C10.900.300.087|C26.915.300.200 Brain Injury, Traumatic|Brain Trauma|Brain Traumas|Encephalopathies, Traumatic|Encephalopathy, Traumatic|Injury, Brain, Traumatic|TBIs (Traumatic Brain Injuries)|TBI (Traumatic Brain Injuries)|TBI (Traumatic Brain Injury)|Trauma, Brain|Traumas, Brain|Traumatic Brain Injuries|Traumatic Brain Injury|Traumatic Encephalopathies|Traumatic Encephalopathy Nervous system disease|Wounds and injuries Brain Injury, Chronic MESH:D020208 Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from DIFFUSE AXONAL INJURY; INTRACRANIAL HEMORRHAGES; BRAIN EDEMA; and other conditions. Clinical features may include DEMENTIA; focal neurologic deficits; PERSISTENT VEGETATIVE STATE; AKINETIC MUTISM; or COMA. MESH:D001925|MESH:D001930 C10.228.140.140.127|C10.228.140.199.500|C10.900.300.087.250|C23.550.291.500.063.500|C26.915.300.200.200 C10.228.140.140|C10.228.140.199|C10.900.300.087|C23.550.291.500.063|C26.915.300.200 Brain Injuries, Chronic|Chronic Brain Injuries|Chronic Brain Injury Nervous system disease|Pathology (process)|Wounds and injuries Brain Ischemia MESH:D002545 DO:DOID:2316 Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION. MESH:D002561 C10.228.140.300.150|C14.907.253.092 C10.228.140.300|C14.907.253 Brain Ischemias|Cerebral Ischemia|Cerebral Ischemias|Encephalopathy, Ischemic|Ischemia, Brain|Ischemia, Cerebral|Ischemias, Cerebral|Ischemic Encephalopathies|Ischemic Encephalopathy Cardiovascular disease|Nervous system disease BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS OMIM:613735 DO:DOID:0060409 MESH:D001927|MESH:D002872|MESH:D009421|MESH:D014564 C10.228.140/613735|C10.500/613735|C12.050.351.875/613735|C12.200.706/613735|C12.800/613735|C16.131.666/613735|C16.131.939/613735|C23.550.210.050.500.500/613735 C10.228.140|C10.500|C12.050.351.875|C12.200.706|C12.800|C16.131.666|C16.131.939|C23.550.210.050.500.500 BRMUTD|CHROMOSOME 1p32-p31 DELETION SYNDROME, INCLUDED Congenital abnormality|Nervous system disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Brain Neoplasms MESH:D001932 DO:DOID:1319 Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain. MESH:D001927|MESH:D016543 C04.588.614.250.195|C10.228.140.211|C10.551.240.250 C04.588.614.250|C10.228.140|C10.551.240 Benign Brain Neoplasm|Benign Brain Neoplasms|Benign Neoplasm, Brain|Benign Neoplasms, Brain|Brain Benign Neoplasm|Brain Benign Neoplasms|Brain Cancer|Brain Cancers|Brain Malignant Neoplasm|Brain Malignant Neoplasms|Brain Metastase|Brain Metastases|Brain Neoplasm|Brain Neoplasm, Benign|Brain Neoplasm, Malignant|Brain Neoplasm, Primary|Brain Neoplasms, Benign|Brain Neoplasms, Malignant|Brain Neoplasms, Malignant, Primary|Brain Neoplasms, Primary|Brain Neoplasms, Primary Malignant|Brain Tumor|Brain Tumor, Primary|Brain Tumor, Recurrent|Brain Tumors|Brain Tumors, Recurrent|Cancer, Brain|Cancer of Brain|Cancer of the Brain|Intracranial Neoplasm|Intracranial Neoplasms|Malignant Brain Neoplasm|Malignant Brain Neoplasms|Malignant Neoplasm, Brain|Malignant Neoplasms, Brain|Malignant Primary Brain Neoplasms|Malignant Primary Brain Tumors|Neoplasm, Brain|Neoplasm, Intracranial|Neoplasms, Brain|Neoplasms, Brain, Benign|Neoplasms, Brain, Malignant|Neoplasms, Brain, Primary|Neoplasms, Intracranial|Primary Brain Neoplasm|Primary Brain Neoplasms|Primary Brain Tumor|Primary Brain Tumors|Primary Malignant Brain Neoplasms|Primary Malignant Brain Tumors|Recurrent Brain Tumor|Recurrent Brain Tumors|Tumor, Brain Cancer|Nervous system disease BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES OMIM:175780 DO:DOID:0090125 MESH:D056784|MESH:D059345|MESH:D065708 C05.660.207.620.500/175780|C10.228.140.300.275/175780|C10.228.140.695/175780|C10.500.507.500.625/175780|C14.907.253.329/175780|C16.131.621.207.620.500/175780|C16.131.666.507.500.625/175780 C05.660.207.620.500|C10.228.140.300.275|C10.228.140.695|C10.500.507.500.625|C14.907.253.329|C16.131.621.207.620.500|C16.131.666.507.500.625 ADT1P, FORMERLY|BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY|BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE|BSVD1|GOULD SYNDROME 1|HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY|LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY|POREN1, FORMERLY|PORENCEPHALY 1, FORMERLY|PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT, FORMERLY|PORENCEPHALY, TYPE 1, FORMERLY|RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT|T1P, FORMERLY Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease Brain Stem Hemorrhage, Traumatic MESH:D020203 Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA. MESH:D020201 C10.228.140.199.275.200|C10.228.140.300.535.450.200.500|C10.900.300.087.187.200|C10.900.300.837.150.300|C14.907.253.573.400.150.200|C26.915.300.200.175.200|C26.915.300.490.150.200 C10.228.140.199.275|C10.228.140.300.535.450.200|C10.900.300.087.187|C10.900.300.837.150|C14.907.253.573.400.150|C26.915.300.200.175|C26.915.300.490.150 Brainstem Hematomas, Traumatic|Brainstem Hematoma, Traumatic|Brain Stem Hematoma, Traumatic|Brainstem Hemorrhage, Post-Traumatic|Brain Stem Hemorrhage, Post Traumatic|Brain Stem Hemorrhage, Post-Traumatic|Brainstem Hemorrhage, Traumatic|Bulbar Hemorrhage, Traumatic|Hemorrhage, Brain Stem, Traumatic|Hemorrhage, Post-Traumatic Brainstem|Hemorrhage, Traumatic Bulbar|Hemorrhage, Traumatic Medullary|Medullary Hemorrhage, Traumatic|Midbrain Hemorrhage, Traumatic|Pontine Hemorrhage, Traumatic|Post Traumatic Brainstem Hemorrhage|Post-Traumatic Brainstem Hemorrhage|Post Traumatic Brain Stem Hemorrhage|Post-Traumatic Brain Stem Hemorrhage|Traumatic Brainstem Hematoma|Traumatic Brain Stem Hematoma|Traumatic Brainstem Hematomas|Traumatic Brainstem Hemorrhage|Traumatic Brain Stem Hemorrhage|Traumatic Bulbar Hemorrhage|Traumatic Medullary Hemorrhage|Traumatic Midbrain Hemorrhage|Traumatic Pontine Hemorrhage Cardiovascular disease|Nervous system disease|Wounds and injuries Brain Stem Infarctions MESH:D020526 DO:DOID:3523 Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury. MESH:D020520 C10.228.140.300.150.477.100|C10.228.140.300.775.200.100|C14.907.253.092.477.100|C14.907.253.855.200.100|C23.550.513.355.250.100|C23.550.717.489.250.100 C10.228.140.300.150.477|C10.228.140.300.775.200|C14.907.253.092.477|C14.907.253.855.200|C23.550.513.355.250|C23.550.717.489.250 Benedict Syndrome|Brain Stem Infarct|Brainstem Infarction|Brain Stem Infarction|Brainstem Infarctions|Brain Stem Infarcts|Brainstem Stroke|Claude Syndrome|Foville Syndrome|Infarct, Brain Stem|Infarction, Brainstem|Infarction, Brain Stem|Infarctions, Brainstem|Infarctions, Brain Stem|Infarcts, Brain Stem|Millard Gublar Syndrome|Millard-Gublar Syndrome|Stem Infarct, Brain|Stem Infarcts, Brain|Stroke, Brainstem|Syndrome, Millard-Gublar|Top of the Basilar Syndrome|Weber Syndrome Cardiovascular disease|Nervous system disease|Pathology (process) Brain Stem Neoplasms MESH:D020295 DO:DOID:4203 Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA. MESH:D015192 C04.588.614.250.195.411.100|C10.228.140.211.500.100|C10.551.240.250.400.200 C04.588.614.250.195.411|C10.228.140.211.500|C10.551.240.250.400 Brainstem Neoplasm|Brain Stem Neoplasm|Brainstem Neoplasm, Primary|Brainstem Neoplasms|Brainstem Neoplasms, Primary|Brain Stem Neoplasms, Primary|Brainstem Tumor|Brain Stem Tumor|Brainstem Tumors|Brain Stem Tumors|Medullary Neoplasm|Medullary Neoplasms|Medullary Tumor|Medullary Tumors|Mesencephalic Neoplasm|Mesencephalic Neoplasms|Midbrain Neoplasm|Midbrain Neoplasms|Midbrain Tumor|Midbrain Tumors|Neoplasm, Brainstem|Neoplasm, Brain Stem|Neoplasm, Medullary|Neoplasm, Mesencephalic|Neoplasm, Midbrain|Neoplasm, Pontine|Neoplasm, Primary Brainstem|Neoplasms, Brainstem|Neoplasms, Brain Stem|Neoplasms, Brainstem, Primary|Neoplasms, Medullary|Neoplasms, Mesencephalic|Neoplasms, Midbrain|Neoplasms, Pontine|Neoplasms, Primary Brainstem|Pontine Neoplasm|Pontine Neoplasms|Pontine Tumor|Pontine Tumors|Primary Brainstem Neoplasm|Primary Brainstem Neoplasms|Primary Brain Stem Neoplasms|Tumor, Brain Stem|Tumor, Medullary|Tumor, Midbrain|Tumor, Pontine|Tumors, Medullary|Tumors, Midbrain|Tumors, Pontine Cancer|Nervous system disease BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY OMIM:614923 DO:DOID:0090126 MESH:D001321|MESH:D004827|MESH:D008607|MESH:D020739 C10.228.140.163.100/614923|C10.228.140.490/614923|C10.597.606.360/614923|C16.320.565.189/614923|C18.452.132.100/614923|C18.452.648.189/614923|C23.888.592.604.646/614923|F03.625.164.113.500/614923|F03.625.539/614923 C10.228.140.163.100|C10.228.140.490|C10.597.606.360|C16.320.565.189|C18.452.132.100|C18.452.648.189|C23.888.592.604.646|F03.625.164.113.500|F03.625.539 BCKDKD|BCKDK DEFICIENCY Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Branchial arch syndrome X-linked MESH:C537102 MESH:D008342|MESH:D008831|MESH:D034381|MESH:D040181 C05.116.099.370.231.576/C537102|C05.660.207.231.576/C537102|C05.660.207.620/C537102|C09.218.458.341/C537102|C10.500.507.400.500/C537102|C10.597.751.418.341/C537102|C11.270.147.750/C537102|C16.131.621.207.231.576/C537102|C16.131.621.207.620/C537102|C16.131.666.507.400.500/C537102|C16.320.322/C537102|C23.888.592.763.393.341/C537102 C05.116.099.370.231.576|C05.660.207.231.576|C05.660.207.620|C09.218.458.341|C10.500.507.400.500|C10.597.751.418.341|C11.270.147.750|C16.131.621.207.231.576|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.322|C23.888.592.763.393.341 Branchial Arch Syndrome, X-Linked|Mandibulofacial Dysostosis, Toriello Type Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Branchial Cleft Anomalies MESH:C562384 MESH:D010608|MESH:D019465 C05.660.207/C562384|C07.550/C562384|C09.775/C562384|C16.131.621.207/C562384 C05.660.207|C07.550|C09.775|C16.131.621.207 Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia MESH:C566188 MESH:D002524|MESH:D009207|MESH:D020336 C10.228.140.252.190/C566188|C10.597.350.090.500/C566188|C10.597.350.500/C566188|C10.597.636.500.500/C566188|C23.888.592.350.090.200/C566188|C23.888.592.350.500/C566188|C23.888.592.643.500.500/C566188 C10.228.140.252.190|C10.597.350.090.500|C10.597.350.500|C10.597.636.500.500|C23.888.592.350.090.200|C23.888.592.350.500|C23.888.592.643.500.500 Nervous system disease|Signs and symptoms Branchiogenic-Deafness Syndrome MESH:C563780 MESH:D000015|MESH:D003638 C09.218.458.341.186/C563780|C10.597.751.418.341.186/C563780|C16.131.077/C563780|C23.888.592.763.393.341.186/C563780 C09.218.458.341.186|C10.597.751.418.341.186|C16.131.077|C23.888.592.763.393.341.186 Congenital abnormality|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Branchioma MESH:D001935 A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed) MESH:D003560 C04.182.117 C04.182 Branchial Cleft Cyst|Branchial Cleft Cysts|Branchial Cyst|Branchial Cysts|Branchiomas|Cleft Cyst, Branchial|Cleft Cysts, Branchial|Cyst, Branchial|Cyst, Branchial Cleft|Cysts, Branchial|Cysts, Branchial Cleft Cancer Branchiootic syndrome MESH:C537104 DO:DOID:0060232|OMIM:602588 MESH:D019280 C16.131.077.208/C537104|C16.131.260.090/C537104|C16.320.180.090/C537104 C16.131.077.208|C16.131.260.090|C16.320.180.090 Bos1|BO syndrome 1|Branchiootic dysplasia|BRANCHIOOTIC DYSPLASIA ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT, INCLUDED|Branchiootic Syndrome 1 Congenital abnormality|Genetic disease (inborn) Branchiootic Syndrome 2 MESH:C565171 OMIM:120502 MESH:D019280 C16.131.077.208/C565171|C16.131.260.090/C565171|C16.320.180.090/C565171 C16.131.077.208|C16.131.260.090|C16.320.180.090 BOS2|BO Syndrome 2 Congenital abnormality|Genetic disease (inborn) Branchiootic Syndrome 3 MESH:C564248 OMIM:608389 MESH:D019280 C16.131.077.208/C564248|C16.131.260.090/C564248|C16.320.180.090/C564248 C16.131.077.208|C16.131.260.090|C16.320.180.090 BOS3|BO Syndrome 3 Congenital abnormality|Genetic disease (inborn) Branchio-Oto-Renal Syndrome MESH:D019280 DO:DOID:14702|OMIM:113620|OMIM:113650|OMIM:610896 An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) MESH:D000015|MESH:D025063 C16.131.077.208|C16.131.260.090|C16.320.180.090 C16.131.077|C16.131.260|C16.320.180 BOFS|BOF Syndrome|BOR1|BOR2|BOR Syndrome|Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging|Branchiooculofacial Syndrome|Branchio Oculo Facial Syndrome|Branchio-Oculo-Facial Syndrome|Branchiootorenal Dysplasia|Branchio-Otorenal Dysplasia|Branchio-Otorenal Syndrome|Branchio Oto Renal Syndrome|Branchiootorenal Syndrome 1|Branchiootorenal Syndrome 2|Dysplasia, Branchiootorenal|Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome|Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome|Lee Root Fenske Syndrome|Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome|Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome|Melnick Fraser Syndrome|Melnick-Fraser Syndrome|Syndrome, BOF Congenital abnormality|Genetic disease (inborn) Breakthrough Infections MESH:D000093742 Infections by the same infectious agent (e.g., virus, fungus) occurring during exposure to prophylaxis, vaccine and treatment. MESH:D007239|MESH:D020969 C01.175|C23.550.291.219 C01|C23.550.291 Breakthrough Infection|Breakthrough Infection, Vaccine|Emergent Infections, Treatment|Infection, Treatment Emergent|Treatment Emergent Infection|Treatment Emergent Infections|Vaccine Breakthrough Infection|Vaccine Breakthrough Infections Pathology (process) Breakthrough Pain MESH:D059390 Acute pain that comes on rapidly despite the use of pain medication. MESH:D010146 C23.888.592.612.191 C23.888.592.612 Breakthrough Pains|Pain, Breakthrough|Pains, Breakthrough Signs and symptoms Breast Cancer 3 MESH:C565336 MESH:D001943 C04.588.180/C565336|C17.800.090.500/C565336 C04.588.180|C17.800.090.500 Cancer|Skin disease Breast Cancer, Familial MESH:C562840 MESH:D001943 C04.588.180/C562840|C17.800.090.500/C562840 C04.588.180|C17.800.090.500 Cancer|Skin disease Breast Cancer, Familial Male MESH:C566178 MESH:D018567 C04.588.180.260/C566178|C17.800.090.500.260/C566178 C04.588.180.260|C17.800.090.500.260 Cancer|Skin disease Breast Cancer Lymphedema MESH:D000072656 Abnormal accumulation of lymph in the arm, shoulder and breast area associated with surgical treatment (e.g., MASTECTOMY) or radiation treatment of breast cancer. MESH:D008209|MESH:D011183 C15.604.496.160|C23.550.767.082 C15.604.496|C23.550.767 Breast Cancer Lymphedemas|Breast Cancer Related Arm Lymphedema|Breast Cancer-Related Arm Lymphedema|Breast Cancer Related Lymphedema|Breast Cancer Treatment Related Lymphedema|Breast Cancer Treatment-Related Lymphedema|Lymphedema, Breast Cancer|Lymphedema, Post-mastectomy|Lymphedema, Postmastectomy|Lymphedemas, Postmastectomy|Post mastectomy Lymphedema|Post-mastectomy Lymphedema|Postmastectomy Lymphedema|Post-mastectomy Lymphedemas|Postmastectomy Lymphedemas Lymphatic disease|Pathology (process) Breast Carcinoma In Situ MESH:D000071960 DO:DOID:8791 A condition in which abnormal cells have not spread outside the duct, lobule, or nipple to other tissues of the breast. There are 3 types of breast carcinoma in situ: DUCTAL CARCINOMA IN SITU; LOBULAR CARCINOMA IN SITU; and PAGET DISEASE OF THE NIPPLE. MESH:D001943|MESH:D002278 C04.557.470.200.240.187|C04.588.180.130|C17.800.090.500.130 C04.557.470.200.240|C04.588.180|C17.800.090.500 LCIS, Lobular Carcinoma In Situ|Lobular Carcinoma In Situ Cancer|Skin disease Breast Cyst MESH:D047688 DO:DOID:10350 A fluid-filled closed cavity or sac that is lined by an EPITHELIUM and found in the BREAST. It may appear as a single large cyst in one breast, multifocal, or bilateral in FIBROCYSTIC BREAST DISEASE. MESH:D001941|MESH:D003560 C04.182.156|C17.800.090.249 C04.182|C17.800.090 Breast Cysts|Cyst, Breast|Cysts, Breast Cancer|Skin disease Breast Diseases MESH:D001941 DO:DOID:3463 Pathological processes of the BREAST. MESH:D012871 C17.800.090 C17.800 Breast Disease|Breast Disease, Endocrine|Breast Diseases, Endocrine|Disease, Breast|Disease, Endocrine Breast|Diseases, Breast|Diseases, Endocrine Breast|Endocrine Breast Disease|Endocrine Breast Diseases Skin disease Breastfeeding Jaundice MESH:C565501 MESH:D007567 C16.614.451.500/C565501|C23.550.429.249.500/C565501 C16.614.451.500|C23.550.429.249.500 Infant-newborn disease|Pathology (process) Breast Neoplasms MESH:D001943 DO:DOID:1612|DO:DOID:3459|OMIM:114480 Tumors or cancer of the human BREAST. MESH:D001941|MESH:D009371 C04.588.180|C17.800.090.500 C04.588|C17.800.090 Breast Cancer|BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED|Breast Carcinoma|Breast Carcinomas|Breast Malignant Neoplasm|Breast Malignant Neoplasms|Breast Malignant Tumor|Breast Malignant Tumors|Breast Neoplasm|Breast Tumor|Breast Tumors|Cancer, Breast|Cancer, Mammary|Cancer of Breast|Cancer of the Breast|Cancers, Mammary|Carcinoma, Breast|Carcinoma, Human Mammary|Carcinomas, Breast|Carcinomas, Human Mammary|Human Mammary Carcinoma|Human Mammary Carcinomas|Human Mammary Neoplasm|Human Mammary Neoplasms|Malignant Neoplasm of Breast|Malignant Tumor of Breast|Mammary Cancer|Mammary Cancers|Mammary Carcinoma, Human|Mammary Carcinomas, Human|Mammary Neoplasm, Human|Mammary Neoplasms, Human|Neoplasm, Breast|Neoplasm, Human Mammary|Neoplasms, Breast|Neoplasms, Human Mammary|Tumor, Breast|Tumors, Breast Cancer|Skin disease Breast Neoplasms, Male MESH:D018567 DO:DOID:1614 Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females. MESH:D001943 C04.588.180.260|C17.800.090.500.260 C04.588.180|C17.800.090.500 Breast Cancer, Male|Breast Carcinoma, Male|Breast Neoplasm, Male|Breast Tumor, Male|Breast Tumors, Male|Cancer, Male Breast|Carcinoma, Male Breast|Male Breast Cancer|Male Breast Carcinoma|Male Breast Neoplasm|Male Breast Neoplasms|Male Breast Tumor|Male Breast Tumors|Neoplasm, Male Breast|Neoplasms, Breast, Male|Neoplasms, Male Breast|Tumor, Male Breast|Tumors, Breast, Male|Tumors, Male Breast Cancer|Skin disease BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 OMIM:604370 MESH:D001943|MESH:D010051 C04.588.180/604370|C04.588.322.455/604370|C12.050.351.500.056.630.705/604370|C12.050.351.937.418.685/604370|C12.100.250.056.630.705/604370|C12.900.418.685/604370|C17.800.090.500/604370|C19.344.410/604370|C19.391.630.705/604370 C04.588.180|C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C17.800.090.500|C19.344.410|C19.391.630.705 BROVCA1|HBOC1 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED|OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED Cancer|Endocrine system disease|Skin disease|Urogenital disease (female) BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 OMIM:612555 MESH:D001943|MESH:D010051 C04.588.180/612555|C04.588.322.455/612555|C12.050.351.500.056.630.705/612555|C12.050.351.937.418.685/612555|C12.100.250.056.630.705/612555|C12.900.418.685/612555|C17.800.090.500/612555|C19.344.410/612555|C19.391.630.705/612555 C04.588.180|C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C17.800.090.500|C19.344.410|C19.391.630.705 BROVCA2|HBOC2 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, INCLUDED|OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, INCLUDED Cancer|Endocrine system disease|Skin disease|Urogenital disease (female) BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 OMIM:613399 MESH:D001943|MESH:D010051 C04.588.180/613399|C04.588.322.455/613399|C12.050.351.500.056.630.705/613399|C12.050.351.937.418.685/613399|C12.100.250.056.630.705/613399|C12.900.418.685/613399|C17.800.090.500/613399|C19.344.410/613399|C19.391.630.705/613399 C04.588.180|C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C17.800.090.500|C19.344.410|C19.391.630.705 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3, INCLUDED|BROVCA3|OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3, INCLUDED Cancer|Endocrine system disease|Skin disease|Urogenital disease (female) BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 OMIM:614291 MESH:D001943|MESH:D010051 C04.588.180/614291|C04.588.322.455/614291|C12.050.351.500.056.630.705/614291|C12.050.351.937.418.685/614291|C12.100.250.056.630.705/614291|C12.900.418.685/614291|C17.800.090.500/614291|C19.344.410/614291|C19.391.630.705/614291 C04.588.180|C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C17.800.090.500|C19.344.410|C19.391.630.705 BROVCA4 Cancer|Endocrine system disease|Skin disease|Urogenital disease (female) BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 OMIM:616001 MESH:C562989 C17.800.090/C562989/616001 C17.800.090/C562989 BNAH2 Skin disease Breech Presentation MESH:D001946 A malpresentation of the FETUS at near term or during OBSTETRIC LABOR with the fetal cephalic pole in the fundus of the UTERUS. There are three types of breech: the complete breech with flexed hips and knees; the incomplete breech with one or both hips partially or fully extended; the frank breech with flexed hips and extended knees. MESH:D007744 C12.050.703.420.183 C12.050.703.420 Breech, Complete|Breech Fetal Presentation|Breech, Incomplete|Breech Labor Presentation|Breech Presentation, Frank|Complete Breech|Fetal Presentation, Breech|Frank Breech Presentation|Incomplete Breech|Labor Presentation, Breech|Presentation, Breech|Presentation, Breech Fetal|Presentation, Breech Labor|Presentation, Frank Breech Pregnancy complication Brenner Tumor MESH:D001948 DO:DOID:2636|DO:DOID:4217 A smooth, solid or cystic fibroepithelial (FIBROEPITHELIAL NEOPLASMS) tumor, usually found in the OVARIES but can also be found in the adnexal region and the KIDNEYS. It consists of a fibrous stroma with nests of epithelial cells that sometimes resemble the transitional cells lining the urinary bladder. Brenner tumors generally are benign and asymptomatic. Malignant Brenner tumors have been reported. MESH:D010051|MESH:D018225 C04.557.450.565.590.595.150|C04.557.470.625.150|C12.050.351.500.056.630.705.265|C12.050.351.937.418.685.265|C12.100.250.056.630.705.265|C12.900.418.685.265|C19.391.630.705.265 C04.557.450.565.590.595|C04.557.470.625|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C19.391.630.705 Benign Brenner Tumor|Brenner Tumor, Benign|Brenner Tumor, Malignant|Brenner Tumor of Ovary|Brenner Tumor, Proliferative|Malignant Brenner Tumor|Ovarian Brenner Tumor|Ovary Brenner Tumor|Proliferative Brenner Tumor Cancer|Endocrine system disease|Urogenital disease (female) Brief, Resolved, Unexplained Event MESH:D057768 An event experienced by an infant or a child that is characterized by some combination of apnea, color change, change in muscle tone, choking, and gagging. MESH:D003490|MESH:D012131|MESH:D012818 C08.618.846.600|C23.888.248.500|C23.888.852.700 C08.618.846|C23.888.248|C23.888.852 ALTE Apparent Life Threatening Event|ALTE Apparent Life-Threatening Event|Apparent Life Threatening Event|Apparent Life-Threatening Event|Apparent Life-Threatening Events|BRUE Brief, Resolved, Unexplained Event|Idiopathic Apparent Life Threatening Event|Idiopathic Apparent Life-Threatening Event|Infantile Apparent Life Threatening Event|Infantile Apparent Life-Threatening Event|Life-Threatening Event, Apparent|Life-Threatening Events, Apparent Respiratory tract disease|Signs and symptoms Brittle Bone Disorder MESH:C565842 MESH:D001848 C05.116.099/C565842 C05.116.099 Musculoskeletal disease Brittle cornea syndrome 1 MESH:C536192 OMIM:229200 MESH:D005124|MESH:D007593|MESH:D012868 C05.550.521/C536192|C11.250/C536192|C16.131.384/C536192|C16.131.831/C536192|C17.800.804/C536192 C05.550.521|C11.250|C16.131.384|C16.131.831|C17.800.804 BCS1|Brittle cornea syndrome|Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|Dysgenesis Mesodermalis Corneae et Sclerae|EDS6B, FORMERLY|Ehlers-Danlos syndrome 6B|Ehlers-Danlos Syndrome, Type VIB|EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY|Fragilitas oculi with joint hyperextensibility Congenital abnormality|Eye disease|Musculoskeletal disease|Skin disease BRITTLE CORNEA SYNDROME 2 OMIM:614170 DO:DOID:0080729 MESH:D003240|MESH:D003316|MESH:D007593|MESH:D015422 C05.550.521/614170|C11.204/614170|C11.790/614170|C17.300/614170 C05.550.521|C11.204|C11.790|C17.300 BCS2 Connective tissue disease|Eye disease|Musculoskeletal disease Broad-Betalipoproteinemia MESH:C566264 MESH:D050171 C18.452.584.500/C566264 C18.452.584.500 Metabolic disease Broad Terminal Phalanges, Familial MESH:C566588 MESH:D000015 C16.131.077/C566588 C16.131.077 Congenital abnormality Brody myopathy MESH:C536607 DO:DOID:0050692|OMIM:601003 MESH:D009224 C05.651.662.500/C536607|C10.574.500.545/C536607|C10.668.491.606.500/C536607|C16.320.400.540/C536607 C05.651.662.500|C10.574.500.545|C10.668.491.606.500|C16.320.400.540 Autosomal recessive Brody myopathy|BROD|Brody Disease|BRODY MYOPATHY Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Bronchial Diseases MESH:D001982 DO:DOID:1176 Diseases involving the BRONCHI. MESH:D012140 C08.127 C08 Bronchial Disease|Disease, Bronchial|Diseases, Bronchial Respiratory tract disease Bronchial Fistula MESH:D001983 An abnormal passage or communication between a bronchus and another part of the body. MESH:D001982|MESH:D016156 C08.127.196|C08.702.196|C23.300.575.687.225 C08.127|C08.702|C23.300.575.687 Bronchial Fistulas|Fistula, Bronchial|Fistulas, Bronchial Pathology (anatomical condition)|Respiratory tract disease Bronchial Hyperreactivity MESH:D016535 Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory. MESH:D001982 C08.127.210 C08.127 Bronchial Hyperreactivities|Hyperreactivities, Bronchial|Hyperreactivity, Bronchial Respiratory tract disease Bronchial Neoplasms MESH:D001984 DO:DOID:3906 Tumors or cancer of the BRONCHI. MESH:D001982|MESH:D008175 C04.588.894.797.520.109|C08.127.265|C08.785.520.100 C04.588.894.797.520|C08.127|C08.785.520 Bronchial Neoplasm|Neoplasm, Bronchial|Neoplasms, Bronchial Cancer|Respiratory tract disease Bronchial Spasm MESH:D001986 Spasmodic contraction of the smooth muscle of the bronchi. MESH:D001982 C08.127.321 C08.127 Bronchial Spasms|Bronchospasm|Bronchospasms|Spasm, Bronchial|Spasms, Bronchial Respiratory tract disease Bronchiectasis MESH:D001987 DO:DOID:9563 Persistent abnormal dilatation of the bronchi. MESH:D001982 C08.127.384 C08.127 Bronchiectases|Bronchiectasis, Cylindrical|Bronchiectasis, Cystic|Bronchiectasis, Saccular|Bronchiectasis, Varicose|Cylindrical Bronchiectases|Cylindrical Bronchiectasis|Cystic Bronchiectases|Cystic Bronchiectasis|Saccular Bronchiectases|Saccular Bronchiectasis|Varicose Bronchiectases|Varicose Bronchiectasis Respiratory tract disease Bronchiectasis With Or Without Elevated Sweat Chloride 1 MESH:C567618 OMIM:211400 MESH:D001987 C08.127.384/C567618 C08.127.384 BESC1|CYSTIC FIBROSIS-LIKE SYNDROME Respiratory tract disease Bronchiectasis With Or Without Elevated Sweat Chloride 2 MESH:C567813 OMIM:613021 MESH:D001987 C08.127.384/C567813 C08.127.384 BESC2|CYSTIC FIBROSIS-LIKE SYNDROME Respiratory tract disease Bronchiectasis With Or Without Elevated Sweat Chloride 3 MESH:C567772 OMIM:613071 MESH:D001987 C08.127.384/C567772 C08.127.384 Besc3|CYSTIC FIBROSIS-LIKE SYNDROME Respiratory tract disease Bronchiolitis MESH:D001988 DO:DOID:2942 Inflammation of the BRONCHIOLES. MESH:D001991 C01.748.099.135|C08.127.446.135|C08.381.495.146.135|C08.730.099.135 C01.748.099|C08.127.446|C08.381.495.146|C08.730.099 Bronchiolitides Respiratory tract disease Bronchiolitis Obliterans MESH:D001989 DO:DOID:2799 Inflammation of the BRONCHIOLES leading to an obstructive lung disease. Bronchioles are characterized by fibrous granulation tissue with bronchial exudates in the lumens. Clinical features include a nonproductive cough and DYSPNEA. MESH:D001988 C08.127.446.135.140|C08.381.495.146.135.140 C08.127.446.135|C08.381.495.146.135 Bronchiolitides, Constrictive|Bronchiolitides, Exudative|Bronchiolitides, Proliferative|Bronchiolitis, Constrictive|Bronchiolitis, Exudative|Bronchiolitis, Proliferative|Constrictive Bronchiolitides|Constrictive Bronchiolitis|Exudative Bronchiolitides|Exudative Bronchiolitis|Proliferative Bronchiolitides|Proliferative Bronchiolitis Respiratory tract disease Bronchiolitis Obliterans Syndrome MESH:D000092122 Bronchiolitis obliterans complication from allogenic HEMATOPOIETIC STEM CELL TRANSPLANTATION and LUNG TRANSPLANTATION. MESH:D000092124|MESH:D006086 C08.127.446.135.140.600.500|C08.381.495.146.135.140.600.500|C20.452.500 C08.127.446.135.140.600|C08.381.495.146.135.140.600|C20.452 BOS Bronchiolitis Obliterans Syndrome|Bronchiolitis Obliterans Syndromes|Chronic Graft Versus Host Disease|Chronic Graft-Versus-Host Disease|Chronic Graft-Versus-Host Diseases|CLAD, Obstructive|Disease, Chronic Graft-Versus-Host|Graft-Versus-Host Disease, Chronic|Graft-Versus-Host Diseases, Chronic|Obstructive Chronic Lung Allograft Dysfunction|Obstructive CLAD|Obstructive CLADs|Syndrome, Bronchiolitis Obliterans Immune system disease|Respiratory tract disease Bronchiolitis, Viral MESH:D001990 An acute inflammatory disease of the lower RESPIRATORY TRACT, caused by paramyxoviruses, occurring primarily in infants and young children; the viruses most commonly implicated are PARAINFLUENZA VIRUS TYPE 3; RESPIRATORY SYNCYTIAL VIRUS, HUMAN; and METAPNEUMOVIRUS. MESH:D001988|MESH:D014777 C01.748.099.135.321|C01.925.109|C08.127.446.135.321|C08.381.495.146.135.321|C08.730.099.135.321 C01.748.099.135|C01.925|C08.127.446.135|C08.381.495.146.135|C08.730.099.135 Bronchiolitides, Viral|Viral Bronchiolitides|Viral Bronchiolitis Respiratory tract disease|Viral disease Bronchitis MESH:D001991 DO:DOID:6132 Inflammation of the large airways in the lung including any part of the BRONCHI, from the PRIMARY BRONCHI to the TERTIARY BRONCHI. MESH:D001982|MESH:D008173|MESH:D012141 C01.748.099|C08.127.446|C08.381.495.146|C08.730.099 C01.748|C08.127|C08.381.495|C08.730 Bronchitides Respiratory tract disease Bronchitis, Chronic MESH:D029481 DO:DOID:6132 A subcategory of CHRONIC OBSTRUCTIVE PULMONARY DISEASE. The disease is characterized by hypersecretion of mucus accompanied by a chronic (more than 3 months in 2 consecutive years) productive cough. Infectious agents are a major cause of chronic bronchitis. MESH:D001991|MESH:D029424 C01.748.099.567|C08.127.446.567|C08.381.495.146.567|C08.381.495.389.500|C08.730.099.567|C23.550.291.500.875.750 C01.748.099|C08.127.446|C08.381.495.146|C08.381.495.389|C08.730.099|C23.550.291.500.875 Chronic Bronchitis Pathology (process)|Respiratory tract disease Bronchogenic Cyst MESH:D001994 A usually spherical cyst, arising as an embryonic out-pouching of the foregut or trachea. It is generally found in the mediastinum or lung and is usually asymptomatic unless it becomes infected. MESH:D001982|MESH:D003560|MESH:D015619 C04.182.195|C08.127.480|C08.695.195|C16.131.740.195 C04.182|C08.127|C08.695|C16.131.740 Bronchial Cyst|Bronchial Cysts|Bronchogenic Cysts|Cyst, Bronchial|Cyst, Bronchogenic|Cysts, Bronchial|Cysts, Bronchogenic Cancer|Congenital abnormality|Respiratory tract disease Bronchomalacia MESH:D055091 A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the BRONCHI. This results in a floppy bronchial wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing. MESH:D055089 C05.182.895.249|C08.127.719.500|C16.131.621.953.249|C17.300.182.895.249 C05.182.895|C08.127.719|C16.131.621.953|C17.300.182.895 Bronchi Chondromalacia|Bronchi Chondromalacias|Bronchomalacias|Chondromalacia of Bronchi Congenital abnormality|Connective tissue disease|Musculoskeletal disease|Respiratory tract disease Bronchopneumonia MESH:D001996 DO:DOID:12375 Inflammation of the lung parenchyma that is associated with BRONCHITIS, usually involving lobular areas from TERMINAL BRONCHIOLES to the PULMONARY ALVEOLI. The affected areas become filled with exudate that forms consolidated patches. MESH:D001982|MESH:D011014 C01.748.610.127|C08.127.509|C08.381.677.127|C08.730.610.127 C01.748.610|C08.127|C08.381.677|C08.730.610 Bronchial Pneumonia|Bronchial Pneumonias|Bronchopneumonias|Pneumonia, Bronchial|Pneumonias, Bronchial Respiratory tract disease Bronchopulmonary Dysplasia MESH:D001997 DO:DOID:11650 A chronic lung disease developed after OXYGEN INHALATION THERAPY or mechanical ventilation (VENTILATION, MECHANICAL) usually occurring in certain premature infants (INFANT, PREMATURE) or newborn infants with respiratory distress syndrome (RESPIRATORY DISTRESS SYNDROME, NEWBORN). Histologically, it is characterized by the unusual abnormalities of the bronchioles, such as METAPLASIA, decrease in alveolar number, and formation of CYSTS. MESH:D007235|MESH:D055397 C08.381.520.750.500|C16.614.521.125 C08.381.520.750|C16.614.521 Dysplasia, Bronchopulmonary Infant-newborn disease|Respiratory tract disease Bronchopulmonary Sequestration MESH:D001998 A developmental anomaly in which a mass of nonfunctioning lung tissue lacks normal connection with the tracheobroncheal tree and receives an anomalous blood supply originating from the descending thoracic or abdominal aorta. The mass may be extralobar, i.e., completely separated from normally connected lung, or intralobar, i.e., partly surrounded by normal lung. MESH:D015619 C08.695.214|C16.131.740.214 C08.695|C16.131.740 Bronchopulmonary Sequestrations|Pulmonary Sequestration|Pulmonary Sequestrations|Sequestration, Bronchopulmonary|Sequestration, Pulmonary|Sequestrations, Bronchopulmonary|Sequestrations, Pulmonary Congenital abnormality|Respiratory tract disease Brown Oculocutaneous Albinism MESH:C562662 MESH:D016115 C11.270.040.545/C562662|C16.320.290.040.100/C562662|C16.320.565.100.102.100/C562662|C16.320.850.080.100/C562662|C17.800.621.440.102.100/C562662|C17.800.827.080.100/C562662|C18.452.648.100.102.100/C562662 C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100 Albinism, Brown Oculocutaneous Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Brown-Sequard Syndrome MESH:D018437 DO:DOID:606 A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162). MESH:D010264 C10.597.622.669.300|C23.888.592.636.637.300 C10.597.622.669|C23.888.592.636.637 Brown Sequard Disease|Brown-Sequard Disease|Brown-Sequard Paralysis|Brown Sequard's Disease|Brown-Sequard's Disease|Brown-Sequards Disease|Brown Sequard's Paralysis|Brown-Sequard's Paralysis|Brown-Sequards Paralysis|Brown Sequard's Syndrome|Brown-Sequard's Syndrome|Brown-Sequards Syndrome|Brown Sequard Syndrome|Hemicord Syndrome|Hemicord Syndromes|Hemiparaplegic Syndrome|Hemiparaplegic Syndromes|Hemispinal Cord Syndrome|Hemispinal Cord Syndromes|Paralysis, Brown-Sequard's|Spastic Spinal Monoplegia Syndrome|Syndrome, Brown-Sequard|Syndrome, Brown-Sequard's|Syndrome, Hemicord|Syndrome, Hemiparaplegic|Syndrome, Hemispinal Cord|Syndromes, Hemicord|Syndromes, Hemiparaplegic|Syndromes, Hemispinal Cord Nervous system disease|Signs and symptoms Brown-Vialetto-Van Laere syndrome MESH:C537111 DO:DOID:0050694|OMIM:211530|OMIM:614707 MESH:D006319|MESH:D010244 C09.218.458.341.887/C537111|C10.574.562.300/C537111|C10.597.751.418.341.887/C537111|C10.668.467.300/C537111|C23.888.592.763.393.341.887/C537111 C09.218.458.341.887|C10.574.562.300|C10.597.751.418.341.887|C10.668.467.300|C23.888.592.763.393.341.887 BROWN-VIALETTO-VAN LAERE SYNDROME 1|BROWN-VIALETTO-VAN LAERE SYNDROME 2|Bulbar Palsy, Progressive, With Sensorineural Deafness|BVVLS1|BVVLS2|Pontobulbar palsy and neurosensory deafness|Pontobulbar Palsy With Deafness|Progressive Bulbar Palsy with Sensorineural Deafness|RIBOFLAVIN TRANSPORTER DEFICIENCY, TYPE 2|RTD2 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Brucellosis MESH:D002006 DO:DOID:11077 Infection caused by bacteria of the genus BRUCELLA mainly involving the MONONUCLEAR PHAGOCYTE SYSTEM. This condition is characterized by fever, weakness, malaise, and weight loss. MESH:D016905 C01.150.252.400.167 C01.150.252.400 Brucella Infection|Brucella Infections|Brucelloses|Brucelloses, Pulmonary|Brucellosis, Pulmonary|Cyprus Fever|Fever, Cyprus|Fever, Gibraltar|Fever, Malta|Fever, Rock|Fever, Undulant|Gibraltar Fever|Infection, Brucella|Malta Fever|Pulmonary Brucelloses|Pulmonary Brucellosis|Rock Fever|Undulant Fever Bacterial infection or mycosis Brucellosis, Bovine MESH:D002007 DO:DOID:14457 A disease of cattle caused by bacteria of the genus BRUCELLA leading to abortion in late pregnancy. BRUCELLA ABORTUS is the primary infective agent. MESH:D000034|MESH:D002006|MESH:D002418 C01.150.252.400.167.322|C22.021.322|C22.196.148 C01.150.252.400.167|C22.021|C22.196 Bang Disease|Bang's Disease|Bangs Disease|Bovine Brucelloses|Bovine Brucellosis|Brucelloses, Bovine|Disease, Bang|Disease, Bang's Animal disease|Bacterial infection or mycosis Bruck syndrome 1 MESH:C537406 OMIM:259450 MESH:D001176|MESH:D010013 C05.116.099.708.685/C537406|C05.550.150/C537406|C05.651.102/C537406|C05.660.077/C537406|C16.131.621.077/C537406|C16.320.737/C537406|C17.300.200.540/C537406 C05.116.099.708.685|C05.550.150|C05.651.102|C05.660.077|C16.131.621.077|C16.320.737|C17.300.200.540 ARTHROGRYPOSIS-LIKE DISORDER|BRKS1|KUSKOKWIM DISEASE|Osteogenesis imperfecta with congenital joint contractures Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Bruck syndrome 2 MESH:C537407 OMIM:609220 MESH:D001176|MESH:D010013 C05.116.099.708.685/C537407|C05.550.150/C537407|C05.651.102/C537407|C05.660.077/C537407|C16.131.621.077/C537407|C16.320.737/C537407|C17.300.200.540/C537407 C05.116.099.708.685|C05.550.150|C05.651.102|C05.660.077|C16.131.621.077|C16.320.737|C17.300.200.540 BRKS2|Bruck syndrome, 2|OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Brugada Syndrome MESH:D053840 DO:DOID:0050451|OMIM:601144 An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit. MESH:D000075224|MESH:D001145|MESH:D030342 C14.280.067.322|C14.280.123.250|C16.320.100 C14.280.067|C14.280.123|C16.320 BRGDA1|Brugada ECG Pattern|Brugada Syndrome 1|Brugada Type ECG Pattern|ECG Pattern, Brugada|Right Bundle Branch Block, ST Segment Elevation, and Sudden Death Syndrome|Sudden Unexplained Death Syndrome|Sudden Unexplained Nocturnal Death Syndrome|Sudden Unexplained Nocturnal Death Syndrome (SUNDS)|SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME;SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED Cardiovascular disease|Genetic disease (inborn) Brugada Syndrome 2 MESH:C567087 DO:DOID:0110219|OMIM:611777 MESH:D053840 C14.280.067.322/C567087|C14.280.123.250/C567087|C16.320.100/C567087 C14.280.067.322|C14.280.123.250|C16.320.100 BRGDA2 Cardiovascular disease|Genetic disease (inborn) Brugada Syndrome 3 MESH:C567509 DO:DOID:0110220|OMIM:611875 MESH:D053840 C14.280.067.322/C567509|C14.280.123.250/C567509|C16.320.100/C567509 C14.280.067.322|C14.280.123.250|C16.320.100 BRGDA3 Cardiovascular disease|Genetic disease (inborn) Brugada Syndrome 4 MESH:C567508 DO:DOID:0110221|OMIM:611876 MESH:D053840 C14.280.067.322/C567508|C14.280.123.250/C567508|C16.320.100/C567508 C14.280.067.322|C14.280.123.250|C16.320.100 BRGDA4 Cardiovascular disease|Genetic disease (inborn) Brugada Syndrome 5 MESH:C567556 DO:DOID:0110222|OMIM:612838 MESH:D053840 C14.280.067.322/C567556|C14.280.123.250/C567556|C16.320.100/C567556 C14.280.067.322|C14.280.123.250|C16.320.100 BRGDA5|CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED Cardiovascular disease|Genetic disease (inborn) Brugada Syndrome 6 MESH:C567735 DO:DOID:0110223|OMIM:613119 MESH:D053840 C14.280.067.322/C567735|C14.280.123.250/C567735|C16.320.100/C567735 C14.280.067.322|C14.280.123.250|C16.320.100 BRGDA6 Cardiovascular disease|Genetic disease (inborn) Brugada Syndrome 7 MESH:C567734 DO:DOID:0110224|OMIM:613120 MESH:D053840 C14.280.067.322/C567734|C14.280.123.250/C567734|C16.320.100/C567734 C14.280.067.322|C14.280.123.250|C16.320.100 ATFB16, INCLUDED|ATRIAL FIBRILLATION, FAMILIAL, 16, INCLUDED|BRGDA7 Cardiovascular disease|Genetic disease (inborn) Brugada Syndrome 8 MESH:C567732 DO:DOID:0110225|OMIM:613123 MESH:D053840 C14.280.067.322/C567732|C14.280.123.250/C567732|C16.320.100/C567732 C14.280.067.322|C14.280.123.250|C16.320.100 BRGDA8 Cardiovascular disease|Genetic disease (inborn) BRUGADA SYNDROME 9 OMIM:616399 DO:DOID:0110226 MESH:D053840 C14.280.067.322/616399|C14.280.123.250/616399|C16.320.100/616399 C14.280.067.322|C14.280.123.250|C16.320.100 BRGDA9 Cardiovascular disease|Genetic disease (inborn) Brunner Syndrome MESH:C563156 DO:DOID:0060693|OMIM:300615 MESH:D007174|MESH:D008607|MESH:D040181 C10.597.606.360/C563156|C16.320.322/C563156|C23.888.592.604.646/C563156|F03.250/C563156|F03.625.539/C563156 C10.597.606.360|C16.320.322|C23.888.592.604.646|F03.250|F03.625.539 ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO, INCLUDED|BRNRS Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Brunoni syndrome MESH:C537408 MESH:D004392|MESH:D004476|MESH:D019066 C05.116.099.343/C537408|C16.131.077.350/C537408|C16.131.831.350/C537408|C16.320.240/C537408|C16.320.850.250/C537408|C17.800.804.350/C537408|C17.800.827.250/C537408|C19.297/C537408|C23.550.291.812/C537408 C05.116.099.343|C16.131.077.350|C16.131.831.350|C16.320.240|C16.320.850.250|C17.800.804.350|C17.800.827.250|C19.297|C23.550.291.812 Mesomelia, radial hypoplasia bifid thumb unusual facies|Mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Skin disease Bruton type agammaglobulinemia MESH:C537409 DO:DOID:14179|OMIM:300755 MESH:D000361|MESH:D040181 C15.378.147.142/C537409|C15.604.515.032/C537409|C16.320.322/C537409|C20.673.088/C537409 C15.378.147.142|C15.604.515.032|C16.320.322|C20.673.088 Agammaglobulinemia, Bruton tyrosine kinase|Agammaglobulinemia, BTK|Agammaglobulinemia, X-Linked|AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1|Agammaglobulinemia, X-Linked, Type I|AGMX1|Bruton's Agammaglobulinemia|Bruton-Type Agammaglobulinemia|Bruton-type (congenital X-linked) agammaglobulinemia|Congenital Agammaglobulinemia|Immunodeficiency 1|IMMUNODEFICIENCY 1;IMD1 HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED|XLA|X-linked agammaglobulinemia Blood disease|Genetic disease (inborn)|Immune system disease|Lymphatic disease Bruxism MESH:D002012 DO:DOID:2846 A disorder characterized by grinding and clenching of the teeth. MESH:D014076 C07.793.099 C07.793 Bruxomania|Disorder, Teeth Grinding|Grinding Disorder, Teeth|Teeth Grinding Disorder|Teeth Grinding Disorders Mouth disease Budd-Chiari Syndrome MESH:D006502 DO:DOID:11512|OMIM:600880 A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon. MESH:D008107|MESH:D020246 C06.552.347|C14.907.355.830.925.275 C06.552|C14.907.355.830.925 BDCHS|Budd Chiari Syndrome|Chiari's Syndrome|Chiaris Syndrome|Chiari Syndrome|Hepatic Vein Thromboses|Hepatic Vein Thrombosis|Hepatic Venous Outflow Obstruction|MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED|MOVC,|MOVC, INCLUDED|Thromboses, Hepatic Vein|Thrombosis, Hepatic Vein|Vein Thromboses, Hepatic|Vein Thrombosis, Hepatic Cardiovascular disease|Digestive system disease Bulbar Palsy, Progressive MESH:D010244 DO:DOID:681|OMIM:211500 A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900) MESH:D016472 C10.574.562.300|C10.668.467.300 C10.574.562|C10.668.467 Bulbar Palsies|Bulbar Palsies, Progressive|Bulbar Palsy|Bulbar Palsy, Progressive, Of Childhood|Bulbar Paralyses|Bulbar Paralysis|Childhood Progressive Bulbar Palsy|Disease, Fazio-Londe|Disease, Fazio-Londe's|Fazio Londe Disease|Fazio-Londe Disease|Fazio Londe's Disease|Fazio-Londe's Disease|Fazio Londe's Syndrome|Fazio-Londe's Syndrome|Fazio Londe Syndrome|Fazio-Londe Syndrome|Palsies, Bulbar|Palsies, Progressive Bulbar|Palsy, Bulbar|Palsy, Progressive Bulbar|Paralysis, Bulbar|Progressive Bulbar Palsies|Progressive Bulbar Palsy of Childhood|Syndrome, Fazio-Londe|Syndrome, Fazio-Londe's Nervous system disease Bulbo-Spinal Atrophy, X-Linked MESH:D055534 DO:DOID:0060161 An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR. MESH:D009134|MESH:D020271|MESH:D040181 C10.228.854.468.399|C10.574.500.175|C10.574.562.500.374|C10.668.467.500.186|C16.320.322.076|C16.320.400.100 C10.228.854.468|C10.574.500|C10.574.562.500|C10.668.467.500|C16.320.322|C16.320.400 Atrophies, X-Linked Bulbo-Spinal|Atrophy, Muscular, Spinobulbar|Atrophy, Spinobulbar Muscular|Atrophy, X-Linked Bulbo-Spinal|Bulbo-Spinal Atrophies, X-Linked|Bulbo Spinal Atrophy, X Linked|Bulbospinal Muscular Atrophy, X linked|Bulbospinal Muscular Atrophy, X-linked|Kennedy Disease|Kennedy's Disease|Kennedy Spinal and Bulbar Muscular Atrophy|Kennedy Syndrome|Muscular Atrophy, Spinobulbar|Spinal and Bulbar Muscular Atrophy|Spinal And Bulbar Muscular Atrophy, X Linked 1|Spinal And Bulbar Muscular Atrophy, X-Linked 1|Spinobulbar Muscular Atrophies|Spinobulbar Muscular Atrophy|X-Linked Bulbo-Spinal Atrophies|X Linked Bulbo Spinal Atrophy|X-Linked Bulbo-Spinal Atrophy|X linked Bulbospinal Muscular Atrophy|X-linked Bulbospinal Muscular Atrophy|X Linked Spinal and Bulbar Muscular Atrophy|X-Linked Spinal and Bulbar Muscular Atrophy Genetic disease (inborn)|Nervous system disease Bulbospinal neuronopathy, X-linked recessive MESH:C537017 OMIM:313200 MESH:D055534 C10.228.854.468.399/C537017|C10.574.500.175/C537017|C10.574.562.500.374/C537017|C10.668.467.500.186/C537017|C16.320.322.076/C537017|C16.320.400.100/C537017 C10.228.854.468.399|C10.574.500.175|C10.574.562.500.374|C10.668.467.500.186|C16.320.322.076|C16.320.400.100 BULBOSPINAL MUSCULAR ATROPHY, X-LINKED|BULBOSPINAL NEURONOPATHY, X-LINKED RECESSIVE|KD|KENNEDY DISEASE|KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY|SBMA|SMAX1|SPINAL AND BULBAR MUSCULAR ATROPHY|SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1|XBSN Genetic disease (inborn)|Nervous system disease Bulimia MESH:D002032 DO:DOID:12129 Eating an excess amount of food in a short period of time, as seen in the disorder of BULIMIA NERVOSA. It is caused by an abnormal craving for food, or insatiable hunger also known as 'ox hunger'. MESH:D006963 C23.888.821.645.500 C23.888.821.645 Binge Eating|Bulimias|Eating, Binge Signs and symptoms Bulimia Nervosa MESH:D052018 OMIM:607499 An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING. MESH:D001068 F03.400.250 F03.400 BN BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1, INCLUDED|BULIMIA NERVOSA, SUSCEPTIBILITY TO|BULN|BULN1, INCLUDED|Nervosa, Bulimia Mental disorder Bullous Dystrophy, Hereditary Macular Type MESH:C563065 OMIM:302000 MESH:D000505|MESH:D004392|MESH:D004820|MESH:D008607|MESH:D008831|MESH:D010859|MESH:D040181 C05.116.099.343/C563065|C05.660.207.620/C563065|C10.500.507.400.500/C563065|C10.597.606.360/C563065|C16.131.621.207.620/C563065|C16.131.666.507.400.500/C563065|C16.131.831.493/C563065|C16.320.240/C563065|C16.320.322/C563065|C16.320.850.275/C563065|C17.800.329.937.122/C563065|C17.800.621/C563065|C17.800.804.493/C563065|C17.800.827.275/C563065|C17.800.865.410/C563065|C19.297/C563065|C23.300.035/C563065|C23.550.755/C563065|C23.888.592.604.646/C563065|F03.625.539/C563065 C05.116.099.343|C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.831.493|C16.320.240|C16.320.322|C16.320.850.275|C17.800.329.937.122|C17.800.621|C17.800.804.493|C17.800.827.275|C17.800.865.410|C19.297|C23.300.035|C23.550.755|C23.888.592.604.646|F03.625.539 EBM|Epidermolysis Bullosa, Macular Type|HBDM Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms|Skin disease Bundle-Branch Block MESH:D002037 A form of heart block in which the electrical stimulation of HEART VENTRICLES is interrupted at either one of the branches of BUNDLE OF HIS thus preventing the simultaneous depolarization of the two ventricles. MESH:D006327 C14.280.067.558.323|C14.280.123.500.323|C23.550.073.425.100 C14.280.067.558|C14.280.123.500|C23.550.073.425 Anterior Fascicular Block|Anterior Fascicular Blocks|Block, Anterior Fascicular|Block, Bundle Branch|Block, Bundle-Branch|Block, Fascicular|Block, Left Bundle-Branch|Block, Posterior Fascicular|Block, Right Bundle-Branch|Blocks, Anterior Fascicular|Blocks, Bundle Branch|Blocks, Bundle-Branch|Blocks, Fascicular|Blocks, Left Bundle-Branch|Blocks, Posterior Fascicular|Blocks, Right Bundle-Branch|Branch Block, Bundle|Branch Blocks, Bundle|Bundle Branch Block|Bundle-Branch Block, Left|Bundle-Branch Block, Right|Bundle Branch Blocks|Bundle-Branch Blocks|Bundle-Branch Blocks, Left|Bundle-Branch Blocks, Right|Fascicular Block|Fascicular Block, Anterior|Fascicular Block, Posterior|Fascicular Blocks|Fascicular Blocks, Anterior|Fascicular Blocks, Posterior|Left Bundle Branch Block|Left Bundle-Branch Block|Left Bundle-Branch Blocks|Posterior Fascicular Block|Posterior Fascicular Blocks|Right Bundle Branch Block|Right Bundle-Branch Block|Right Bundle-Branch Blocks Cardiovascular disease|Pathology (process) Bundle Branch Block, Familial Isolated Complete Right MESH:C562759 MESH:D002037 C14.280.067.558.323/C562759|C14.280.123.500.323/C562759|C23.550.073.425.100/C562759 C14.280.067.558.323|C14.280.123.500.323|C23.550.073.425.100 Cardiovascular disease|Pathology (process) Bunion MESH:D000071378 Abnormal swelling of the inner aspect of the first metatarsal head affecting the first METATARSOPHALANGEAL JOINT. MESH:D005531 C05.330.488.050 C05.330.488 Bunions Musculoskeletal disease Bunion, Tailor's MESH:D050489 Abnormal swelling of the outer aspect of the fifth metatarsal head affecting the fifth METATARSOPHALANGEAL JOINT. MESH:D000071378 C05.330.488.050.500 C05.330.488.050 Bunionette|Bunionettes|Bunions, Tailor's|Bunion, Tailors|Tailor's Bunion|Tailors Bunion|Tailor's Bunions Musculoskeletal disease Bunyaviridae Infections MESH:D002044 Virus diseases caused by the BUNYAVIRIDAE. MESH:D012327 C01.925.782.147 C01.925.782 Bunyaviridae Infection|Bunyavirus Infection|Bunyavirus Infections|Infections, Bunyaviridae|Infections, Bunyavirus|Oropouche Fever|Oropouche Fevers|Oropouche Infection|Oropouche Orthobunyavirus Infection|Oropouche Virus Infection|Orthobunyavirus Infection|Orthobunyavirus Infection, Oropouche|Orthobunyavirus Infections|Virus Infection, Oropouche Viral disease Burkholderia Infections MESH:D019121 Infections with bacteria of the genus BURKHOLDERIA. MESH:D016905 C01.150.252.400.170 C01.150.252.400 B cepacia Infection|B. cepacia Infection|B cepacia Infections|B. cepacia Infections|Burkholderia cepacia Infection|Burkholderia cepacia Infections|Burkholderia cepacia Sepses|Burkholderia cepacia Sepsis|Burkholderia Infection|Infection, B cepacia|Infection, B. cepacia|Infection, Burkholderia|Infection, Burkholderia cepacia|Infections, B cepacia|Infections, Burkholderia|Sepses, Burkholderia cepacia|Sepsis, Burkholderia cepacia Bacterial infection or mycosis Burkitt Lymphoma MESH:D002051 DO:DOID:8584|OMIM:113970 A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative. MESH:D016393|MESH:D020031 C01.925.256.466.313.165|C01.925.928.313.165|C04.557.386.480.150.165|C15.604.515.569.480.150.165|C20.683.515.761.480.150.165 C01.925.256.466.313|C01.925.928.313|C04.557.386.480.150|C15.604.515.569.480.150|C20.683.515.761.480.150 African Lymphoma|BL|Burkitt Cell Leukemia|Burkitt Leukemia|Burkitt's Leukemia|Burkitts Leukemia|Burkitt's Lymphoma|Burkitts Lymphoma|Burkitt's Tumor|Burkitts Tumor|Burkitt Tumor|L3 Lymphocytic Leukemia|L3 Lymphocytic Leukemias|Leukemia, Burkitt|Leukemia, Burkitt Cell|Leukemia, Burkitt's|Leukemia, L3 Lymphocytic|Leukemia, Lymphoblastic, Burkitt-Type|Leukemia, Lymphocytic, L3|Lymphocytic Leukemia, L3|Lymphoma, African|Lymphoma, Burkitt|Lymphoma, Burkitt's|Tumor, Burkitt|Tumor, Burkitt's Cancer|Immune system disease|Lymphatic disease|Viral disease Burnett Schwartz Berberian syndrome MESH:C537412 MESH:D000015|MESH:D007644 C16.131.077/C537412|C16.320.850.190/C537412|C17.800.428.275/C537412|C17.800.827.190/C537412 C16.131.077|C16.320.850.190|C17.800.428.275|C17.800.827.190 Amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2|Atrophodermia reticulata|Atrophodermia Reticulata Symmetrica Faciei|Atrophodermia vermiculata|Folliculitis ulerythematosa|Folliculitis ulerythematosa reticulata|Honeycomb atrophy|Keratosis pilaris|Keratosis Pilaris Atrophicans Facies|Ulerythema ophryogenes|Ulerythema ophryogenesis|Ulerythema ophryogenes with multiple congenital anomalies Congenital abnormality|Genetic disease (inborn)|Skin disease Burning Mouth Syndrome MESH:D002054 DO:DOID:4331 A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders. MESH:D009059 C07.465.114 C07.465 Burning Mouth Syndromes|Mouth Syndrome, Burning|Mouth Syndromes, Burning|Syndrome, Burning Mouth|Syndromes, Burning Mouth Mouth disease Burning mouth syndrome- Type 3 MESH:C537413 MESH:D002054 C07.465.114/C537413 C07.465.114 Type 3 burning mouth syndrome Mouth disease Burn-Mckeown syndrome MESH:C537411 DO:DOID:0080695|OMIM:608572 MESH:D002754|MESH:D003638|MESH:D006330|MESH:D019066 C08.460.171/C537411|C08.695.271/C537411|C09.218.458.341.186/C537411|C09.603.171/C537411|C10.597.751.418.341.186/C537411|C14.240.400/C537411|C14.280.400/C537411|C16.131.240.400/C537411|C16.131.740.271/C537411|C23.550.291.812/C537411|C23.888.592.763.393.341.186/C537411 C08.460.171|C08.695.271|C09.218.458.341.186|C09.603.171|C10.597.751.418.341.186|C14.240.400|C14.280.400|C16.131.240.400|C16.131.740.271|C23.550.291.812|C23.888.592.763.393.341.186 Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance|BMKS|OCULOOTOFACIAL DYSPLASIA|OOFD Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Nervous system disease|Pathology (process)|Respiratory tract disease|Signs and symptoms Burnout, Professional MESH:D002055 An excessive stress reaction to one's occupational or professional environment. It may be characterized by feelings of emotional and physical exhaustion, coupled with a sense of frustration and failure. MESH:D000073397 C24.580.500 C24.580 Burnout, Career|Burnout, Occupational|Career Burnout|Occupational Burnout|Professional Burnout Occupational disease Burns MESH:D002056 Injuries to tissues caused by contact with heat, steam, chemicals (BURNS, CHEMICAL), electricity (BURNS, ELECTRIC), or the like. MESH:D014947 C26.200 C26 Burn Wounds and injuries Burns, Chemical MESH:D002057 Burns caused by contact with or exposure to CAUSTICS or strong ACIDS. MESH:D002056 C26.200.156 C26.200 Burn, Chemical|Chemical Burn|Chemical Burns Wounds and injuries Burns, Electric MESH:D002058 Burns produced by contact with electric current or from a sudden discharge of electricity. MESH:D002056|MESH:D004556 C26.200.239|C26.324.323 C26.200|C26.324 Burn, Electric|Electric Burn|Electric Burns Wounds and injuries Burns, Inhalation MESH:D002059 Burns of the respiratory tract caused by heat or inhaled chemicals. MESH:D002056 C26.200.322 C26.200 Burn, Inhalation|Inhalation Burn|Inhalation Burns Wounds and injuries Bursitis MESH:D002062 DO:DOID:14188|DO:DOID:2965 Inflammation or irritation of a SYNOVIAL BURSA, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. MESH:D007592 C05.550.251 C05.550 Adhesive Capsulitides|Adhesive Capsulitides, Shoulder|Adhesive Capsulitis|Adhesive Capsulitis of the Shoulder|Adhesive Capsulitis, Shoulder|Bursitides|Bursitides, Pes Anserine|Bursitis, Pes Anserine|Capsulitides|Capsulitides, Adhesive|Capsulitides, Shoulder Adhesive|Capsulitis|Capsulitis, Adhesive|Capsulitis, Shoulder Adhesive|Frozen Shoulder|Frozen Shoulders|Pes Anserine Bursitides|Pes Anserine Bursitis|Shoulder Adhesive Capsulitides|Shoulder Adhesive Capsulitis|Shoulder, Frozen Musculoskeletal disease Buruli Ulcer MESH:D054312 DO:DOID:0050456|OMIM:610446 A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa. MESH:D009165|MESH:D012883 C01.150.252.410.040.552.475.247|C17.800.893.295 C01.150.252.410.040.552.475|C17.800.893 Buruli Ulcer Disease|Buruli Ulcer Diseases|BURULI ULCER, SUSCEPTIBILITY TO|Disease, Buruli Ulcer|Diseases, Buruli Ulcer|Infection, Mycobacterium ulcerans|Infections, Mycobacterium ulcerans|Mycobacterium ulcerans Infection|Mycobacterium ulcerans Infections|MYCOBACTERIUM ULCERANS, SUSCEPTIBILITY TO|Ulcer, Buruli|Ulcer Disease, Buruli|Ulcer Diseases, Buruli Bacterial infection or mycosis|Skin disease Buschke-Lowenstein Tumor MESH:D062688 Exophytic tumor of the anogenital region associated with HPV infections. It becomes a large cauliflower-like, hyperkeratotic, verrucous mass that is locally destructive with little atypical cells. Histologically, tumor cells are broad rete peg structures that tend to invade deeper than CONDYLOMATA ACUMINATA. MESH:D003218|MESH:D018289 C01.221.812.640.220.500|C01.778.640.220.500|C01.925.256.650.810.217.500|C01.925.813.220.500|C01.925.825.810.110.500|C01.925.928.914.217.500|C04.557.470.200.450.500|C04.557.470.700.450.500|C12.100.937.640.220.500|C17.800.838.790.810.110.500 C01.221.812.640.220|C01.778.640.220|C01.925.256.650.810.217|C01.925.813.220|C01.925.825.810.110|C01.925.928.914.217|C04.557.470.200.450|C04.557.470.700.450|C12.100.937.640.220|C17.800.838.790.810.110 Anogenital Type Verrucous Carcinoma|Buschke Lowenstein Tumor|Buschke Löwenstein Tumor|Buschke-Löwenstein Tumor|Condyloma Acuminatum, Giant|Condyloma Acuminatums, Giant|Giant Condyloma Acuminatum|Giant Condyloma Acuminatums|Giant Condyloma of Buschke and Lowenstein|Giant Condyloma of Buschke and Löwenstein|Lowenstein Tumor, Buschke|Löwenstein Tumor, Buschke|Tumor, Buschke Lowenstein|Tumor, Buschke-Lowenstein|Tumor, Buschke Löwenstein|Tumor, Buschke-Löwenstein Cancer|Skin disease|Viral disease Buschke-Ollendorff syndrome MESH:C537415 DO:DOID:0111536|OMIM:166700 MESH:D010023|MESH:D012873 C05.116.099.708.702.685/C537415|C16.320.850/C537415|C17.300.705/C537415|C17.800.827/C537415 C05.116.099.708.702.685|C16.320.850|C17.300.705|C17.800.827 BOS|Buschke Ollendorff syndrome|Dermatofibrosis, disseminated, with osteopoikilosis|DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED, INCLUDED|Dermatofibrosis lenticularis disseminata with osteopoikilosis|Dermatoosteopoikilosis|Osteopathia condensans disseminata|OSTEOPATHIA CONDENSANS DISSEMINATA OSTEOPOIKILOSIS, ISOLATED, INCLUDED|OSTEOPOIKILOSIS WITH MELORHEOSTOSIS, INCLUDED Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Butyrylcholinesterase deficiency MESH:C537417 MESH:D001049|MESH:D008661 C08.618.085/C537417|C16.320.565/C537417|C18.452.648/C537417|C23.888.852.130/C537417 C08.618.085|C16.320.565|C18.452.648|C23.888.852.130 Acylcholine acylhydrolase deficiency|Apnea, Postanesthetic|Cholinesterase 2 Deficiency|Pseudocholinesterase deficiency|Pseudocholinesterase E1 deficiency|Succinylcholine Sensitivity|Suxamethonium Sensitivity Genetic disease (inborn)|Metabolic disease|Respiratory tract disease|Signs and symptoms Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type MESH:C566751 MESH:D008661 C16.320.565/C566751|C18.452.648/C566751 C16.320.565|C18.452.648 Hypocholinesterasemia, Fluoride-Resistant, Japanese Type Genetic disease (inborn)|Metabolic disease Byssinosis MESH:D002095 DO:DOID:10323 A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest. MESH:D011009 C08.381.483.581.275|C08.381.520.702.275|C24.800.323 C08.381.483.581|C08.381.520.702|C24.800 Brown Lung|Brown Lung Disease|Brown Lung Diseases|Brown Lungs|Byssinoses Occupational disease|Respiratory tract disease C1q DEFICIENCY 1 OMIM:613652 MESH:D005921|MESH:D007153|MESH:D008180|MESH:D012868 C12.050.351.968.419.570.363/613652|C12.200.777.419.570.363/613652|C12.950.419.570.363/613652|C16.131.831/613652|C17.300.480/613652|C17.800.804/613652|C20.111.590/613652|C20.673/613652 C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363|C16.131.831|C17.300.480|C17.800.804|C20.111.590|C20.673 C1QD|C1QD1|C1q DEFICIENCY Congenital abnormality|Connective tissue disease|Immune system disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) C3 GLOMERULOPATHY 3 OMIM:614809 MESH:D015432 C12.050.351.968.419.570.363.615/614809|C12.200.777.419.570.363.615/614809|C12.950.419.570.363.615/614809|C20.425/614809 C12.050.351.968.419.570.363.615|C12.200.777.419.570.363.615|C12.950.419.570.363.615|C20.425 C3G3|CFHR5 NEPHROPATHY Immune system disease|Urogenital disease (female)|Urogenital disease (male) C6 Deficiency, Subtotal MESH:C567308 MESH:D000081208 C16.320.798.500/C567308|C20.673.795.500/C567308 C16.320.798.500|C20.673.795.500 Complement Component 6 Deficiency, Subtotal Genetic disease (inborn)|Immune system disease C9 Deficiency MESH:C565165 OMIM:613825 MESH:D000081208 C16.320.798.500/C565165|C20.673.795.500/C565165 C16.320.798.500|C20.673.795.500 C9D|C9 DEFICIENCY|Complement Component 9 Deficiency Genetic disease (inborn)|Immune system disease C9 Deficiency with Dermatomyositis MESH:C565166 MESH:D000081208|MESH:D003882 C05.651.594.819.500/C565166|C10.668.491.562.575.500/C565166|C16.320.798.500/C565166|C17.300.250/C565166|C17.800.185/C565166|C20.673.795.500/C565166 C05.651.594.819.500|C10.668.491.562.575.500|C16.320.798.500|C17.300.250|C17.800.185|C20.673.795.500 Connective tissue disease|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease|Nervous system disease|Skin disease Cachexia MESH:D002100 General ill health, malnutrition, and weight loss, usually associated with chronic disease. MESH:D013851|MESH:D015431 C23.888.144.243.963.250|C23.888.144.828.250 C23.888.144.243.963|C23.888.144.828 Signs and symptoms CADASIL MESH:D046589 DO:DOID:13945|OMIM:125310|OMIM:616779 A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146) MESH:D002539|MESH:D002544|MESH:D015140|MESH:D030342|MESH:D059345 C10.228.140.300.150.477.200.100|C10.228.140.300.275.249|C10.228.140.300.400.203|C10.228.140.300.510.200.175|C10.228.140.300.775.200.200.100|C10.228.140.380.230.124|C14.907.253.092.477.200.100|C14.907.253.329.249|C14.907.253.560.200.175|C14.907.253.855.200.200.100|C16.320.129|C23.550.513.355.250.200.100|C23.550.717.489.250.200.100 C10.228.140.300.150.477.200|C10.228.140.300.275|C10.228.140.300.400|C10.228.140.300.510.200|C10.228.140.300.775.200.200|C10.228.140.380.230|C14.907.253.092.477.200|C14.907.253.329|C14.907.253.560.200|C14.907.253.855.200.200|C16.320|C23.550.513.355.250.200|C23.550.717.489.250.200 CADASIL1|CADASIL2|CADASILM|CASIL|CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1|CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2|Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy|Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy|Dementia, Hereditary Multi Infarct Type|Dementia, Hereditary Multi-Infarct Type|DEMENTIA, HEREDITARY MULTIINFARCT TYPE Cardiovascular disease|Genetic disease (inborn)|Nervous system disease|Pathology (process) Cadaver MESH:D002102 A dead body, usually a human body. MESH:D003643 C23.550.260.224 C23.550.260 Cadavers|Corpse|Corpses Pathology (process) Cadmium Poisoning MESH:D002105 Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis. MESH:D000075322 C25.723.522.625 C25.723.522 Cadmium Poisonings|Itai Itai|Itai-Itai|Poisoning, Cadmium|Poisonings, Cadmium Cafe-au-Lait Spots MESH:D019080 Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC). MESH:D010859|MESH:D012877 C17.800.621.250|C23.888.885.250 C17.800.621|C23.888.885 Cafe-au-Lait Spot|Cafe au Lait Spots|Spot, Cafe-au-Lait|Spots, Cafe-au-Lait Signs and symptoms|Skin disease Cafe au lait spots, multiple MESH:C537421 OMIM:114030 MESH:D019080 C17.800.621.250/C537421|C23.888.885.250/C537421 C17.800.621.250|C23.888.885.250 Cafe-au-Lait Spots, Multiple|Multiple cafe-au-lait spots Signs and symptoms|Skin disease CAHMR syndrome MESH:C537959 MESH:D002386|MESH:D006983|MESH:D008607 C10.597.606.360/C537959|C11.510.245/C537959|C17.800.329.875/C537959|C23.888.592.604.646/C537959|F03.625.539/C537959 C10.597.606.360|C11.510.245|C17.800.329.875|C23.888.592.604.646|F03.625.539 Cataract, Hypertrichosis, Mental Retardation syndrome Eye disease|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Cakut MESH:C566906 DO:DOID:0080205 MESH:D014564|MESH:D014718 C12.050.351.875/C566906|C12.050.351.968.829.920/C566906|C12.200.706/C566906|C12.200.777.829.920/C566906|C12.800/C566906|C12.950.829.920/C566906|C16.131.939/C566906 C12.050.351.875|C12.050.351.968.829.920|C12.200.706|C12.200.777.829.920|C12.800|C12.950.829.920|C16.131.939 Congenital Anomalies Of Kidney And Urinary Tract Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Calabro syndrome MESH:C537960 MESH:D003251|MESH:D003398|MESH:D007714|MESH:D009056|MESH:D014564|MESH:D017880 C05.116.099.370.535/C537960|C05.116.099.370.894.232/C537960|C05.660.207.240/C537960|C05.660.551/C537960|C05.660.585/C537960|C05.660.906.364/C537960|C07.465.525/C537960|C07.650.525/C537960|C12.050.351.875/C537960|C12.200.706/C537960|C12.800/C537960|C16.131.621.207.240/C537960|C16.131.621.551/C537960|C16.131.621.585/C537960|C16.131.621.906.364/C537960|C16.131.850.525/C537960|C16.131.939/C537960|C23.300.287/C537960 C05.116.099.370.535|C05.116.099.370.894.232|C05.660.207.240|C05.660.551|C05.660.585|C05.660.906.364|C07.465.525|C07.650.525|C12.050.351.875|C12.200.706|C12.800|C16.131.621.207.240|C16.131.621.551|C16.131.621.585|C16.131.621.906.364|C16.131.850.525|C16.131.939|C23.300.287 Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Calcific Aortic Disease with Immunologic Abnormalities, Familial MESH:C566182 MESH:D001018|MESH:D002114 C14.907.109/C566182|C18.452.174.130/C566182 C14.907.109|C18.452.174.130 Cardiovascular disease|Metabolic disease Calcification of Joints and Arteries MESH:C565891 OMIM:211800 MESH:D002114|MESH:D007592|MESH:D014652 C05.550/C565891|C14.907/C565891|C18.452.174.130/C565891 C05.550|C14.907|C18.452.174.130 ACDC|ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73|CALJA Cardiovascular disease|Metabolic disease|Musculoskeletal disease calcifying aponeurotic fibroma MESH:C000625499 MESH:D012983|MESH:D018214 C04.557.450.565.575.400/C000625499|C04.557.450.565.590.340.360/C000625499|C04.588.839/C000625499 C04.557.450.565.575.400|C04.557.450.565.590.340.360|C04.588.839 Cancer Calcifying Epithelial Odontogenic Tumor MESH:C537961 MESH:D009808|MESH:D012878 C04.557.695/C537961|C04.588.805/C537961|C17.800.882/C537961 C04.557.695|C04.588.805|C17.800.882 Pindborg tumor Cancer|Skin disease Calcinosis MESH:D002114 DO:DOID:182 Pathologic deposition of calcium salts in tissues. MESH:D002128 C18.452.174.130 C18.452.174 Calcification, Pathologic|Calcinoses|Calcinoses, Tumoral|Calcinosis, Tumoral|Microcalcification|Microcalcifications|Microcalcinoses|Microcalcinosis|Pathologic Calcification|Tumoral Calcinoses|Tumoral Calcinosis Metabolic disease Calcinosis Cutis MESH:D000092182 Pathological deposition of calcium in the skin and subcutaneous tissue. Excessive calcification of the skin may be associated with underlying diseases that cause tissue damage (e.g., EHLERS-DANLOS SYNDROME; PSEUDOXANTHOMA ELASTICUM; ROTHMUND-THOMSON SYNDROME; and WERNER SYNDROME) or that cause abnormal calcium and phosphate metabolism (e.g., CALCIPHYLAXIS; CHRONIC KIDNEY FAILURE; HYPERPARATHYROIDISM; and SARCOIDOSIS). MESH:D002114|MESH:D012871 C17.800.113|C18.452.174.130.093 C17.800|C18.452.174.130 Calcification, Cutaneous|Calcinosis Cutis, Dystrophic|Calcinosis Cutis, Iatrogenic|Calcinosis Cutis, Idiopathic|Calcinosis Cutis, Metastatic|Cutaneous Calcification|Cutaneous Calcifications|Dystrophic Calcinosis Cutis|Iatrogenic Calcinosis Cutis|Idiopathic Calcinosis Cutis|Metastatic Calcinosis Cutis Metabolic disease|Skin disease Calciphylaxis MESH:D002115 DO:DOID:4734 Condition of induced systemic hypersensitivity in which tissues respond to appropriate challenging agents with a sudden local calcification. MESH:D002114 C18.452.174.130.186 C18.452.174.130 Arteriolopathy, Calcific Uraemic|Calcific Uraemic Arteriolopathies|Calcific Uraemic Arteriolopathy|Calciphylaxes|Calciphylaxis, Idiopathic|Idiopathic Calciphylaxis|Uraemic Arteriolopathy, Calcific Metabolic disease Calcium Metabolism Disorders MESH:D002128 DO:DOID:10575 Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. MESH:D008659 C18.452.174 C18.452 Calcium Metabolism Disorder|Disorder, Calcium Metabolism|Disorders, Calcium Metabolism Metabolic disease Calculi MESH:D002137 An abnormal concretion occurring mostly in the urinary and biliary tracts, usually composed of mineral salts. Also called stones. MESH:D020763 C23.300.175 C23.300 Biliary or Urinary Stones|Calculus Pathology (anatomical condition) Caliciviridae Infections MESH:D017250 Virus diseases caused by CALICIVIRIDAE. They include HEPATITIS E; VESICULAR EXANTHEMA OF SWINE; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans. MESH:D012327 C01.925.782.160 C01.925.782 Caliciviridae Infection|Calicivirus Infection|Calicivirus Infections|Infection, Caliciviridae|Infection, Calicivirus|Infection, Norovirus|Infections, Caliciviridae|Infections, Calicivirus|Infections, Norovirus|Norovirus Infection|Norovirus Infections Viral disease Callosities MESH:D002145 Localized hyperplasia of the horny layer of the epidermis due to pressure or friction. (Dorland, 27th ed) MESH:D007642 C17.800.428.200 C17.800.428 Callosity|Corns Skin disease Callosities, Hereditary Painful MESH:C566180 MESH:D002145 C17.800.428.200/C566180 C17.800.428.200 Callosities, Painful Plantar Skin disease Calloso-genital dysplasia MESH:C537962 MESH:D000568|MESH:D003103|MESH:D061085 C10.500.034/C537962|C11.250.110/C537962|C11.270.147/C537962|C16.131.384.282/C537962|C16.131.666.034/C537962|C23.300.008/C537962|C23.550.568.500/C537962 C10.500.034|C11.250.110|C11.270.147|C16.131.384.282|C16.131.666.034|C23.300.008|C23.550.568.500 Primary amenorrhoea with coloboma and total agenesis of the corpus callosum Congenital abnormality|Eye disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process) Calvarial hyperostosis MESH:C537963 MESH:D015576|MESH:D019465 C05.116.540/C537963|C05.660.207/C537963|C16.131.621.207/C537963 C05.116.540|C05.660.207|C16.131.621.207 Isolated hyperostosis of the calvarium Congenital abnormality|Musculoskeletal disease Camera Marugo Cohen syndrome MESH:C537964 MESH:D008141|MESH:D008607|MESH:D009765|MESH:D018908 C05.116.900.800.750/C537964|C05.651.515/C537964|C10.597.606.360/C537964|C10.597.613.593/C537964|C18.654.726.750.500/C537964|C23.550.695/C537964|C23.888.144.699.500/C537964|C23.888.592.604.646/C537964|C23.888.592.608.593/C537964|F03.625.539/C537964 C05.116.900.800.750|C05.651.515|C10.597.606.360|C10.597.613.593|C18.654.726.750.500|C23.550.695|C23.888.144.699.500|C23.888.592.604.646|C23.888.592.608.593|F03.625.539 Camera-Marugo-Cohen Syndrome Mental disorder|Musculoskeletal disease|Nervous system disease|Nutrition disorder|Pathology (process)|Signs and symptoms CAMFAK syndrome MESH:C537965 MESH:D002386|MESH:D003711|MESH:D008831|MESH:D061085 C05.660.207.620/C537965|C10.314/C537965|C10.500.034/C537965|C10.500.507.400.500/C537965|C11.510.245/C537965|C16.131.621.207.620/C537965|C16.131.666.034/C537965|C16.131.666.507.400.500/C537965|C23.300.008/C537965 C05.660.207.620|C10.314|C10.500.034|C10.500.507.400.500|C11.510.245|C16.131.621.207.620|C16.131.666.034|C16.131.666.507.400.500|C23.300.008 Cataract-microcephaly-failure to thrive-kyphoscoliosis|Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Campomelia Cumming type MESH:C537966 MESH:D008210|MESH:D021782|MESH:D055036 C04.182.430/C537966|C05.660.142/C537966|C12.050.351.875.558/C537966|C12.050.351.968.419.403.750/C537966|C12.200.706.629/C537966|C12.200.777.419.403.750/C537966|C12.800.629/C537966|C12.950.419.403.750/C537966|C15.604.510/C537966|C16.131.621.142/C537966|C16.131.939.629/C537966 C04.182.430|C05.660.142|C12.050.351.875.558|C12.050.351.968.419.403.750|C12.200.706.629|C12.200.777.419.403.750|C12.800.629|C12.950.419.403.750|C15.604.510|C16.131.621.142|C16.131.939.629 Campomelia, Cumming Type|Cervical lymphocele with bowed long bones|Cumming syndrome Cancer|Congenital abnormality|Lymphatic disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Campomelic Dysplasia MESH:D055036 DO:DOID:0050463|OMIM:114290 A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene. MESH:D009139 C05.660.142|C16.131.621.142 C05.660|C16.131.621 Acampomelic Campomelic Dysplasia|ACAMPOMELIC CAMPOMELIC DYSPLASIA, INCLUDED|Acampomelic Campomelic Dysplasias|ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED|Campomelic Dwarfism|Campomelic Dwarfisms|Campomelic Dysplasia, Acampomelic|Campomelic Dysplasias|Campomelic Dysplasias, Acampomelic|Campomelic Syndrome|Campomelic Syndromes|Camptomelic Dysplasia|CAMPTOMELIC DYSPLASIA, INCLUDED|Camptomelic Dysplasias|CMD1|CMPD|CMPD1|Cmpd1 Sra1|CMPD1/SRA1 CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED|Cmpd1 Sra1s|Dwarfism, Campomelic|Dwarfisms, Campomelic|Dysplasia, Acampomelic Campomelic|Dysplasia, Campomelic|Dysplasia, Camptomelic|Dysplasias, Acampomelic Campomelic|Dysplasias, Campomelic|Dysplasias, Camptomelic|Sra1, Cmpd1|Sra1s, Cmpd1|Syndrome, Campomelic|Syndromes, Campomelic Congenital abnormality|Musculoskeletal disease Campomelic Dysplasia with Autosomal Sex Reversal MESH:C564282 MESH:D012734|MESH:D055036 C05.660.142/C564282|C12.050.351.875.253/C564282|C12.200.706.316/C564282|C12.800.316/C564282|C16.131.621.142/C564282|C16.131.939.316/C564282|C19.391.119/C564282 C05.660.142|C12.050.351.875.253|C12.200.706.316|C12.800.316|C16.131.621.142|C16.131.939.316|C19.391.119 Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Camptobrachydactyly MESH:C537967 MESH:D017880 C05.660.585/C537967|C16.131.621.585/C537967 C05.660.585|C16.131.621.585 Short foot-brachydactyly of toes, camptodactyly , brachydactyly Congenital abnormality|Musculoskeletal disease Camptocormia MESH:C537968 MESH:D009134|MESH:D013121 C05.116.900.800/C537968|C10.228.854.468/C537968|C10.574.562.500/C537968|C10.668.467.500/C537968 C05.116.900.800|C10.228.854.468|C10.574.562.500|C10.668.467.500 Bent spine|Bent Spine Syndrome|Camptocormism Musculoskeletal disease|Nervous system disease Camptodactyly 1 MESH:C567780 OMIM:114200 MESH:D006228 C05.390.408/C567780|C05.660.585.988.425/C567780|C16.131.621.585.988.500/C567780 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 CAMPD1|Camptodactyly And Knuckle Pads|CAMPTODACTYLY AND KNUCKLE PADS STREBLODACTYLY, INCLUDED Congenital abnormality|Musculoskeletal disease Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia MESH:C537974 MESH:D001848|MESH:D005357|MESH:D006228|MESH:D009135 C05.116.099.708.375/C537974|C05.116.099/C537974|C05.390.408/C537974|C05.651/C537974|C05.660.585.988.425/C537974|C10.668.491/C537974|C16.131.621.585.988.500/C537974 C05.116.099|C05.116.099.708.375|C05.390.408|C05.651|C05.660.585.988.425|C10.668.491|C16.131.621.585.988.500 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia Congenital abnormality|Musculoskeletal disease|Nervous system disease Camptodactyly-ichthyosis syndrome MESH:C537976 MESH:D001176|MESH:D006228|MESH:D007057 C05.390.408/C537976|C05.550.150/C537976|C05.651.102/C537976|C05.660.077/C537976|C05.660.585.988.425/C537976|C16.131.621.077/C537976|C16.131.621.585.988.500/C537976|C16.131.831.512/C537976|C16.614.492/C537976|C17.800.428.333/C537976|C17.800.804.512/C537976 C05.390.408|C05.550.150|C05.651.102|C05.660.077|C05.660.585.988.425|C16.131.621.077|C16.131.621.585.988.500|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 Camptodactyly ichthyosis syndrome Congenital abnormality|Infant-newborn disease|Musculoskeletal disease|Skin disease Camptodactyly joint contractures and facial skeletal dysplasia MESH:C537969 MESH:D003025|MESH:D003286|MESH:D004413|MESH:D006228 C05.116.099.370/C537969|C05.330.488.655.063/C537969|C05.330.495.681.063/C537969|C05.390.408/C537969|C05.550.323/C537969|C05.651.197/C537969|C05.660.585.512.380.813.063/C537969|C05.660.585.988.425/C537969|C16.131.621.585.512.500.681.063/C537969|C16.131.621.585.988.500/C537969 C05.116.099.370|C05.330.488.655.063|C05.330.495.681.063|C05.390.408|C05.550.323|C05.651.197|C05.660.585.512.380.813.063|C05.660.585.988.425|C16.131.621.585.512.500.681.063|C16.131.621.585.988.500 Congenital abnormality|Musculoskeletal disease Camptodactyly syndrome Guadalajara type 1 MESH:C537970 MESH:D006228 C05.390.408/C537970|C05.660.585.988.425/C537970|C16.131.621.585.988.500/C537970 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Camptodactyly Syndrome, Guadalajara, Type I|Facio-thoraco-skeletal syndrome|Faciothoracoskeletal Syndrome|Guadalajara camptodactyly syndrome|Guadalajara camptodactyly syndrome type 1 Congenital abnormality|Musculoskeletal disease Camptodactyly syndrome Guadalajara type 2 MESH:C537971 MESH:D005317|MESH:D006228|MESH:D006618|MESH:D019465 C05.390.408/C537971|C05.660.207/C537971|C05.660.297.500/C537971|C05.660.585.988.425/C537971|C12.050.703.277.370/C537971|C16.131.621.207/C537971|C16.131.621.297.500/C537971|C16.131.621.449/C537971|C16.131.621.585.988.500/C537971|C16.300.390/C537971|C23.550.393.450/C537971 C05.390.408|C05.660.207|C05.660.297.500|C05.660.585.988.425|C12.050.703.277.370|C16.131.621.207|C16.131.621.297.500|C16.131.621.449|C16.131.621.585.988.500|C16.300.390|C23.550.393.450 Camptodactyly Syndrome, Guadalajara, Type II|Guadalajara camptodactyly syndrome type 2 Congenital abnormality|Fetal disease|Musculoskeletal disease|Pathology (process)|Pregnancy complication Camptodactyly Syndrome, Guadalajara, Type III MESH:C567455 MESH:D006972|MESH:D016135 C05.116.099.370.231.480/C567455|C05.660.207.231.480/C567455|C10.500.680.800/C567455|C16.131.621.207.231.480/C567455|C16.131.666.680.800/C567455 C05.116.099.370.231.480|C05.660.207.231.480|C10.500.680.800|C16.131.621.207.231.480|C16.131.666.680.800 Congenital abnormality|Musculoskeletal disease|Nervous system disease Camptodactyly taurinuria MESH:C537972 MESH:D000592|MESH:D006228 C05.390.408/C537972|C05.660.585.988.425/C537972|C16.131.621.585.988.500/C537972|C16.320.565.100/C537972|C18.452.648.100/C537972 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500|C16.320.565.100|C18.452.648.100 Camptodactyly with Taurinuria Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Camptodactyly vertebral fusion MESH:C537973 MESH:D006228 C05.390.408/C537973|C05.660.585.988.425/C537973|C16.131.621.585.988.500/C537973 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Camptodactyly and sacral vertebral fusion Congenital abnormality|Musculoskeletal disease Camptomelic syndrome long limb type MESH:C537977 MESH:D055036 C05.660.142/C537977|C16.131.621.142/C537977 C05.660.142|C16.131.621.142 Campomelic syndrome long limb type|Campomelic Syndrome, Long-Limb Type|Camptomelic Syndrome, Long-Limb Type Congenital abnormality|Musculoskeletal disease Camptosynpolydactyly, Complex MESH:C564383 OMIM:607539 MESH:D005532|MESH:D006228 C05.330.495/C564383|C05.390.408/C564383|C05.660.585.512.380/C564383|C05.660.585.988.425/C564383|C16.131.621.585.512.500/C564383|C16.131.621.585.988.500/C564383 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500 Camptopolydactyly, Disorganization Type|CCSPD Congenital abnormality|Musculoskeletal disease Campylobacter Infections MESH:D002169 DO:DOID:13622 Infections with bacteria of the genus CAMPYLOBACTER. MESH:D016905 C01.150.252.400.177 C01.150.252.400 Campylobacter Infection|Campylobacterioses|Campylobacteriosis|Infection, Campylobacter|Infections, Campylobacter Bacterial infection or mycosis Camurati Engelmann disease, type 2 MESH:C537978 MESH:D003966 C05.116.099.708.180/C537978|C16.320.144/C537978 C05.116.099.708.180|C16.320.144 Progressive diaphyseal dysplasia with striations of the bones Genetic disease (inborn)|Musculoskeletal disease Camurati-Engelmann Disease, Type II MESH:C564689 MESH:D003966 C05.116.099.708.180/C564689|C16.320.144/C564689 C05.116.099.708.180|C16.320.144 Genetic disease (inborn)|Musculoskeletal disease Camurati-Engelmann Syndrome MESH:D003966 DO:DOID:4997|OMIM:131300 An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder. MESH:D010009|MESH:D030342 C05.116.099.708.180|C16.320.144 C05.116.099.708|C16.320 CAEND|Camurati Engelmann Disease|Camurati-Engelmann Disease|Camurati Engelmann Syndrome|CED|Diaphyseal Dysplasia 1, Progressive|Diaphyseal Dysplasia, Progressive|Diaphyseal Dysplasias, Progressive|Diaphyseal Hyperostoses|Diaphyseal Hyperostosis|DPD1|Dysplasia, Progressive Diaphyseal|Dysplasias, Progressive Diaphyseal|Engelmann Disease|Engelmann's Disease|Hyperostoses, Diaphyseal|Hyperostosis, Diaphyseal|PDD|Progressive Diaphyseal Dysplasia Genetic disease (inborn)|Musculoskeletal disease Canaliculitis MESH:D000069282 Inflammation and infection of the lacrimal canaliculus area in the LACRIMAL APPARATUS. MESH:D003607 C11.496.221.500 C11.496.221 Canaliculitides|Canaliculitides, Lacrimal|Canaliculitis, Lacrimal|Lacrimal Canaliculitides|Lacrimal Canaliculitis Eye disease Canavan Disease MESH:D017825 DO:DOID:3613|OMIM:271900 A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71) MESH:D020271|MESH:D020279 C10.228.140.163.100.362.375|C10.228.140.695.625.375|C10.314.400.375|C10.574.500.300|C16.320.400.150|C16.320.565.189.362.375|C18.452.132.100.362.375|C18.452.648.189.362.375 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500|C16.320.400|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 ACY2 Deficiency|Aminoacylase 2 Deficiency|ASPA Deficiency|Aspartoacylase Deficiency|ASP Deficiency|Canavan Disease, Familial Form|Canavan Disease, Infantile|Canavan Disease, Juvenile|Canavan Disease, Neonatal|Canavan Disease, Sporadic Form|Canavan Disease, Type I|Canavan Disease, Type II|Canavan Disease, Type III|Canavan van Bogaert Bertrand Disease|Canavan-van Bogaert-Bertrand Disease|Deficiency Disease, Aspartoacylase|Disease, Canavan|Disease, Canavan-van Bogaert-Bertrand|Disease, Von Bogaert-Bertrand|Familial Form of Canavan Disease|Infantile Canavan Disease|Juvenile Canavan Disease|Leukodystrophy, Spongiform|Neonatal Canavan Disease|Spongiform Leukodystrophy|Spongy Degeneration Of Central Nervous System|Spongy Degeneration of Infancy|Spongy Degeneration of the Brain|Spongy Degeneration of the Central Nervous System|Spongy Degeneration of White Matter In Infancy|Spongy Disease of Central Nervous System|Spongy Disease of White Matter|Sporadic Form of Canavan Disease|Syndrome, Van Bogaert-Bertrand|Type I Canavan Disease|Type II Canavan Disease|Type III Canavan Disease|Van Bogaert Bertrand Syndrome|Van Bogaert-Bertrand Syndrome|Von Bogaert Bertrand Disease|Von Bogaert-Bertrand Disease Genetic disease (inborn)|Metabolic disease|Nervous system disease Cancer, Familial, with In Vitro Radioresistance MESH:C566179 OMIM:114450 MESH:D009386 C04.700/C566179|C16.320.700/C566179 C04.700|C16.320.700 Cancer|Genetic disease (inborn) Cancer of the oviduct MESH:C538511 MESH:D005185 C04.588.945.418.365/C538511|C12.050.351.500.056.390.390/C538511|C12.050.351.937.418.365/C538511|C12.100.250.056.390.390/C538511|C12.900.418.365/C538511 C04.588.945.418.365|C12.050.351.500.056.390.390|C12.050.351.937.418.365|C12.100.250.056.390.390|C12.900.418.365 Cancer|Urogenital disease (female) Cancer Pain MESH:D000072716 Pain that may be caused by or related to cellular, tissue, and systemic changes that occur during NEOPLASM growth, tissue invasion, and METASTASIS. MESH:D010146 C23.888.592.612.212 C23.888.592.612 Cancer Associated Pain|Cancer-Associated Pain|Cancer-Associated Pains|Cancer Pains|Cancer Related Pain|Cancer-Related Pain|Cancer-Related Pains|Neoplasm Associated Pain|Neoplasm-Associated Pain|Neoplasm-Associated Pains|Neoplasm Related Pain|Neoplasm-Related Pain|Neoplasm-Related Pains|Oncological Pain|Oncological Pains|Oncology Pain|Oncology Pains|Pain, Cancer|Pain, Cancer-Associated|Pain, Cancer-Related|Pain, Neoplasm-Associated|Pain, Neoplasm-Related|Pain, Oncological|Pain, Oncology|Pains, Cancer|Pains, Cancer-Associated|Pains, Cancer-Related|Pains, Neoplasm-Associated|Pains, Neoplasm-Related|Pains, Oncological|Pains, Oncology|Pains, Tumor-Associated|Pains, Tumor-Related|Pain, Tumor-Associated|Pain, Tumor-Related|Tumor Associated Pain|Tumor-Associated Pain|Tumor-Associated Pains|Tumor Related Pain|Tumor-Related Pain|Tumor-Related Pains Signs and symptoms Candida auris infection MESH:C000656864 MESH:D058365 C01.150.703.160.175/C000656864|C01.150.703.492.500/C000656864 C01.150.703.160.175|C01.150.703.492.500 C auris infection|C. auris infection Bacterial infection or mycosis Candidemia MESH:D058387 A form of invasive candidiasis where species of CANDIDA are present in the blood. MESH:D016469|MESH:D058365 C01.150.703.160.175.500|C01.150.703.492.500.500|C01.757.360.150|C23.550.470.790.500.360.150 C01.150.703.160.175|C01.150.703.492.500|C01.757.360|C23.550.470.790.500.360 Bacterial infection or mycosis|Pathology (process) Candidiasis MESH:D002177 DO:DOID:1508 Infection with a fungus of the genus CANDIDA. It is usually a superficial infection of the moist areas of the body and is generally caused by CANDIDA ALBICANS. (Dorland, 27th ed) MESH:D009181 C01.150.703.160 C01.150.703 Candida Infection|Candida Infections|Candidiases|Infection, Candida|Moniliases|Moniliasis Bacterial infection or mycosis Candidiasis, Chronic Mucocutaneous MESH:D002178 DO:DOID:2058 A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy. MESH:D002177|MESH:D002908|MESH:D003881 C01.150.703.160.088|C01.150.703.302.100|C01.800.200.100|C17.800.838.208.165|C23.550.291.500.250 C01.150.703.160|C01.150.703.302|C01.800.200|C17.800.838.208|C23.550.291.500 Candidiases, Chronic Mucocutaneous|Chronic Mucocutaneous Candidiases|Chronic Mucocutaneous Candidiasis|Mucocutaneous Candidiases, Chronic|Mucocutaneous Candidiasis, Chronic Bacterial infection or mycosis|Pathology (process)|Skin disease Candidiasis, Cutaneous MESH:D002179 DO:DOID:0080161 Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed) MESH:D002177|MESH:D003881 C01.150.703.160.132|C01.150.703.302.105|C01.800.200.105|C17.800.838.208.170 C01.150.703.160|C01.150.703.302|C01.800.200|C17.800.838.208 Moniliasis, Cutaneous Bacterial infection or mycosis|Skin disease Candidiasis, Familial, 1 MESH:C567779 OMIM:114580 MESH:D002178 C01.150.703.160.088/C567779|C01.150.703.302.100/C567779|C01.800.200.100/C567779|C17.800.838.208.165/C567779|C23.550.291.500.250/C567779 C01.150.703.160.088|C01.150.703.302.100|C01.800.200.100|C17.800.838.208.165|C23.550.291.500.250 CANDF1|Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant, With Or Without Thyroid Disease|CMCT Bacterial infection or mycosis|Pathology (process)|Skin disease Candidiasis, Familial, 3 MESH:C564361 OMIM:607644 MESH:D002178|MESH:D009260 C01.150.703.160.088/C564361|C01.150.703.302.100/C564361|C01.800.200.100/C564361|C17.800.529/C564361|C17.800.838.208.165/C564361|C23.550.291.500.250/C564361 C01.150.703.160.088|C01.150.703.302.100|C01.800.200.100|C17.800.529|C17.800.838.208.165|C23.550.291.500.250 CANDF3|Candidiasis, Familial Chronic Nail, With ICAM1 Deficiency|CANDN1|FCNC Bacterial infection or mycosis|Pathology (process)|Skin disease CANDIDIASIS, FAMILIAL, 6 OMIM:613956 DO:DOID:2058 MESH:D002178 C01.150.703.160.088/613956|C01.150.703.302.100/613956|C01.800.200.100/613956|C17.800.838.208.165/613956|C23.550.291.500.250/613956 C01.150.703.160.088|C01.150.703.302.100|C01.800.200.100|C17.800.838.208.165|C23.550.291.500.250 CANDF6|CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT Bacterial infection or mycosis|Pathology (process)|Skin disease CANDIDIASIS, FAMILIAL, 8 OMIM:615527 DO:DOID:2058 MESH:D002178 C01.150.703.160.088/615527|C01.150.703.302.100/615527|C01.800.200.100/615527|C17.800.838.208.165/615527|C23.550.291.500.250/615527 C01.150.703.160.088|C01.150.703.302.100|C01.800.200.100|C17.800.838.208.165|C23.550.291.500.250 CANDF8|CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE Bacterial infection or mycosis|Pathology (process)|Skin disease CANDIDIASIS, FAMILIAL, 9 OMIM:616445 DO:DOID:2058 MESH:D002178 C01.150.703.160.088/616445|C01.150.703.302.100/616445|C01.800.200.100/616445|C17.800.838.208.165/616445|C23.550.291.500.250/616445 C01.150.703.160.088|C01.150.703.302.100|C01.800.200.100|C17.800.838.208.165|C23.550.291.500.250 CANDF9 Bacterial infection or mycosis|Pathology (process)|Skin disease Candidiasis familial chronic mucocutaneous, autosomal recessive MESH:C537979 OMIM:613108 MESH:D002178 C01.150.703.160.088/C537979|C01.150.703.302.100/C537979|C01.800.200.100/C537979|C17.800.838.208.165/C537979|C23.550.291.500.250/C537979 C01.150.703.160.088|C01.150.703.302.100|C01.800.200.100|C17.800.838.208.165|C23.550.291.500.250 CANDF2|CANDF4|Candidiasis, Familial, 2|CANDIDIASIS, FAMILIAL, 4|Candidiasis, Familial Chronic Mucocutaneous|Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive|Candidiasis, Familial, Type 4|CARD9 deficiency|CARD9 immunodeficiency|Familial chronic mucocutaneous candidiasis Bacterial infection or mycosis|Pathology (process)|Skin disease Candidiasis, Invasive MESH:D058365 An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement. MESH:D000072742|MESH:D002177 C01.150.703.160.175|C01.150.703.492.500 C01.150.703.160|C01.150.703.492 Candidiases, Invasive|Invasive Candidiases|Invasive Candidiasis Bacterial infection or mycosis Candidiasis, Oral MESH:D002180 DO:DOID:14262 Infection of the mucous membranes of the mouth by a fungus of the genus CANDIDA. (Dorland, 27th ed) MESH:D002177|MESH:D009059 C01.150.703.160.180|C07.465.130 C01.150.703.160|C07.465 Candidiases, Oral|Moniliases, Oral|Moniliasis, Oral|Oral Candidiases|Oral Candidiasis|Oral Moniliases|Oral Moniliasis|Thrush Bacterial infection or mycosis|Mouth disease Candidiasis, Vulvovaginal MESH:D002181 DO:DOID:2272 Infection of the VULVA and VAGINA with a fungus of the genus CANDIDA. MESH:D002177|MESH:D014848 C01.150.703.160.190|C12.050.351.500.894.906.820.500|C12.050.351.500.944.902.737.500|C12.100.250.894.906.820.500|C12.100.250.944.902.737.500 C01.150.703.160|C12.050.351.500.894.906.820|C12.050.351.500.944.902.737|C12.100.250.894.906.820|C12.100.250.944.902.737 Candidiasis, Genital|Candidiasis, Genital Vulvovaginal|Genital Candidiasis|Genital Vulvovaginal Candidiasis|Infections, Vaginal Yeast|Infection, Vaginal Yeast|Monilial Vaginitis|Moniliasis, Vulvovaginal|Vaginal Yeast Infection|Vaginal Yeast Infections|Vaginitis, Monilial|Vulvovaginal Candidiasis|Vulvovaginal Candidiasis, Genital|Vulvovaginal Moniliasis|Yeast Infections, Vaginal|Yeast Infection, Vaginal Bacterial infection or mycosis|Urogenital disease (female) CANOMAD syndrome MESH:C537980 MESH:D000744|MESH:D001259|MESH:D009886 C10.292.562.750/C537980|C10.597.350.090/C537980|C10.597.622.447/C537980|C11.590.472/C537980|C15.378.071.141.125/C537980|C20.111.175/C537980|C23.888.592.350.090/C537980|C23.888.592.636.447/C537980 C10.292.562.750|C10.597.350.090|C10.597.622.447|C11.590.472|C15.378.071.141.125|C20.111.175|C23.888.592.350.090|C23.888.592.636.447 Blood disease|Eye disease|Immune system disease|Nervous system disease|Signs and symptoms Cantalamessa Baldini Ambrosi syndrome MESH:C537981 MESH:D006130|MESH:D007006|MESH:D008607|MESH:D008945 C10.597.606.360/C537981|C14.280.484.400.500/C537981|C19.391.482/C537981|C23.550.393/C537981|C23.888.592.604.646/C537981|F03.625.539/C537981 C10.597.606.360|C14.280.484.400.500|C19.391.482|C23.550.393|C23.888.592.604.646|F03.625.539 Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation Cardiovascular disease|Endocrine system disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Cantu Sanchez-Corona Fragoso syndrome MESH:C535571 MESH:D004392|MESH:D006130|MESH:D008607|MESH:D011628 C05.116.099.343/C535571|C10.597.606.360/C535571|C16.320.240/C535571|C19.297/C535571|C19.391.690/C535571|C23.550.393/C535571|C23.888.592.604.646/C535571|F03.625.539/C535571 C05.116.099.343|C10.597.606.360|C16.320.240|C19.297|C19.391.690|C23.550.393|C23.888.592.604.646|F03.625.539 Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Cantu syndrome MESH:C535572 DO:DOID:0060569|OMIM:239850 MESH:D006332|MESH:D006983|MESH:D010009 C05.116.099.708/C535572|C14.280.195/C535572|C16.320.728/C535572|C17.800.329.875/C535572|C23.300.775.250/C535572 C05.116.099.708|C14.280.195|C16.320.728|C17.800.329.875|C23.300.775.250 Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome|Hypertrichotic osteochondrodysplasia Cardiovascular disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (anatomical condition)|Skin disease CANVAS syndrome MESH:C000726747 MESH:D002524|MESH:D010523|MESH:D015837 C09.218.568.900/C000726747|C10.228.140.252.190/C000726747|C10.597.350.090.500/C000726747|C10.668.829/C000726747|C23.888.592.350.090.200/C000726747 C09.218.568.900|C10.228.140.252.190|C10.597.350.090.500|C10.668.829|C23.888.592.350.090.200 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome Ear-nose-throat disease|Nervous system disease|Signs and symptoms Capgras Syndrome MESH:D002194 DO:DOID:6680 A psychotic disorder characterized by the patient's belief that acquaintances or closely related persons have been replaced by doubles or imposters. MESH:D019967 F03.700.300 F03.700 Syndrome, Capgras Mental disorder Capillary Leak Syndrome MESH:D019559 DO:DOID:14400 A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE. MESH:D014652 C14.907.218 C14.907 Capillary Leak Syndromes|Clarkson Disease|Clinical Capillary Leak Syndrome|Systemic Capillary Leak Syndrome Cardiovascular disease Capillary leak syndrome with monoclonal gammopathy MESH:C535573 MESH:D006942|MESH:D019559 C14.907.218/C535573|C15.378.147.542/C535573|C20.683.460/C535573|C23.888.512/C535573 C14.907.218|C15.378.147.542|C20.683.460|C23.888.512 Periodic systemic capillary leak syndrome Blood disease|Cardiovascular disease|Immune system disease|Signs and symptoms Capillary Malformation-Arteriovenous Malformation MESH:C564254 OMIM:608354 MESH:D001165|MESH:D019339 C14.240.850.750/C564254|C14.907.150/C564254|C16.131.240.850.750/C564254|C16.131.831.675/C564254|C17.800.804.675/C564254 C14.240.850.750|C14.907.150|C16.131.240.850.750|C16.131.831.675|C17.800.804.675 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION|CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1|Capillary Malformation-Arteriovenous Malformation Syndrome|Capillary Malformation Without Arteriovenous Malformation|Cm-Avm|CMAVM|CMAVM1|Cmavm Capillary malformation arteriovenous malformation syndrome|Cm-Avm Capillary malformation-arteriovenous malformation syndrome Cardiovascular disease|Congenital abnormality|Skin disease CAPILLARY MALFORMATIONS, CONGENITAL OMIM:163000 DO:DOID:0111529 MESH:C562760|MESH:D019339 C14.240.850/C562760/163000|C16.131.240.850/C562760/163000|C16.131.831.675/163000|C17.800.804.675/163000 C14.240.850/C562760|C16.131.240.850/C562760|C16.131.831.675|C17.800.804.675 CAPILLARY MALFORMATIONS|CMAL|CMC|NEVI FLAMMEI, FAMILIAL MULTIPLE|PORT-WINE STAIN Cardiovascular disease|Congenital abnormality|Skin disease Capillary Malformations, Congenital, 1 MESH:C562760 MESH:D054079 C14.240.850/C562760|C16.131.240.850/C562760 C14.240.850|C16.131.240.850 Capillary Malformations Cardiovascular disease|Congenital abnormality Caplan Syndrome MESH:D002205 DO:DOID:10326 A condition characterized by the presence of RHEUMATOID ARTHRITIS associated with a specific form of pneumoconiosis, often in coal miners and asbestos workers. MESH:D001172|MESH:D011009 C05.550.114.154.219|C05.799.114.219|C08.381.483.581.300|C08.381.520.702.300|C17.300.775.099.219|C24.800.340 C05.550.114.154|C05.799.114|C08.381.483.581|C08.381.520.702|C17.300.775.099|C24.800 Caplan's Syndrome|Caplans Syndrome|Caplan Syndromes Connective tissue disease|Musculoskeletal disease|Occupational disease|Respiratory tract disease Cap Myopathy MESH:C579969 MESH:D020914 C05.651.575/C579969|C10.668.491.550/C579969 C05.651.575|C10.668.491.550 Cap Disease|Congenital Myopathy with Caps Musculoskeletal disease|Nervous system disease CAPOS syndrome MESH:C535351 OMIM:601338 MESH:D002524|MESH:D005532|MESH:D006319|MESH:D009896|MESH:D012021 C05.330.495/C535351|C05.660.585.512.380/C535351|C09.218.458.341.887/C535351|C10.228.140.252.190/C535351|C10.292.700.225/C535351|C10.597.350.090.500/C535351|C10.597.704/C535351|C10.597.751.418.341.887/C535351|C11.640.451/C535351|C16.131.621.585.512.500/C535351|C23.888.592.350.090.200/C535351|C23.888.592.717/C535351|C23.888.592.763.393.341.887/C535351 C05.330.495|C05.660.585.512.380|C09.218.458.341.887|C10.228.140.252.190|C10.292.700.225|C10.597.350.090.500|C10.597.704|C10.597.751.418.341.887|C11.640.451|C16.131.621.585.512.500|C23.888.592.350.090.200|C23.888.592.717|C23.888.592.763.393.341.887 CAPOS|CAPOS SYNDROME|Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss|Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss|Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Capsule Opacification MESH:D058442 Clouding or loss of transparency of the posterior lens capsule, usually following CATARACT extraction. MESH:D002386 C11.510.245.500 C11.510.245 Capsule Opacifications|Cataract, Secondary|Cataracts, Secondary|Opacification, Capsule|Opacifications, Capsule|Secondary Cataract|Secondary Cataracts Eye disease Carabelli Anomaly of Maxillary Molar Teeth MESH:C566175 MESH:D014071 C07.650.800/C566175|C07.793.700/C566175|C16.131.850.800/C566175 C07.650.800|C07.793.700|C16.131.850.800 Congenital abnormality|Mouth disease Carbamoyl-Phosphate Synthase I Deficiency Disease MESH:D020165 DO:DOID:9280|OMIM:237300 A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1) MESH:D028361|MESH:D056806 C10.228.140.163.100.937.249|C16.320.565.100.940.249|C16.320.565.189.937.249|C18.452.132.100.937.249|C18.452.648.100.940.249|C18.452.648.189.937.249|C18.452.660.097 C10.228.140.163.100.937|C16.320.565.100.940|C16.320.565.189.937|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937|C18.452.660 Carbamoyl Phosphate Synthase 1 Deficiency|Carbamoyl Phosphate Synthase 1 Deficiency Disease|Carbamoyl-Phosphate Synthase 1 Deficiency Disease|Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)|Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)|Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease|Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)|Carbamoylphosphate Synthetase 1 Deficiency Disease|Carbamoylphosphate Synthetase 1 Deficiency Disease -|Carbamoyl Phosphate Synthetase I Deficiency|Carbamoylphosphate Synthetase I Deficiency Disease|Carbamoyl Phosphate Synthetase I Deficiency Disease|Carbamoyl-Phosphate Synthetase I Deficiency Disease|Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To|Carbamyl Phosphate Synthetase 1 Deficiency Disease|Carbamyl-Phosphate Synthetase 1 Deficiency Disease|Carbamyl Phosphate Synthetase (CPS) Deficiency|Carbamyl Phosphate Synthetase Deficiency Disease|Carbamyl Phosphate Synthetase I Deficiency Disease|Carbamyl-Phosphate Synthetase I Deficiency Disease|CPS 1 Deficiencies|CPS 1 Deficiency|CPS I Deficiencies|CPS I Deficiency|Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease Carbohydrate Metabolism, Inborn Errors MESH:D002239 DO:DOID:2978 Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero. MESH:D008661 C16.320.565.202|C18.452.648.202 C16.320.565|C18.452.648 Carbohydrate Metabolism, Inborn Error Genetic disease (inborn)|Metabolic disease CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO OMIM:615751 MESH:D008661|MESH:D022124 C16.320.565/615751|C18.452.648/615751|C23.550.421/615751 C16.320.565|C18.452.648|C23.550.421 CA5AD Genetic disease (inborn)|Metabolic disease|Pathology (process) Carbon Monoxide Poisoning MESH:D002249 Toxic asphyxiation due to the displacement of oxygen from oxyhemoglobin by carbon monoxide. MESH:D005739 C25.723.455.245 C25.723.455 Carbon Monoxide Poisonings|Gas Poisoning, Illuminating|Gas Poisonings, Illuminating|Illuminating Gas Poisoning|Illuminating Gas Poisonings|Monoxide Poisoning, Carbon|Monoxide Poisonings, Carbon|Poisoning, Carbon Monoxide|Poisoning, Illuminating Gas|Poisonings, Carbon Monoxide|Poisonings, Illuminating Gas Carbon Tetrachloride Poisoning MESH:D002252 Poisoning that results from ingestion, injection, inhalation, or skin absorption of CARBON TETRACHLORIDE. MESH:D011041 C25.723.177 C25.723 Carbon Tetrachloride Poisonings|CCl4 Poisoning|CCl4 Poisonings|Poisoning, Carbon Tetrachloride|Poisoning, CCl4|Poisonings, Carbon Tetrachloride Carboxypeptidase N Deficiency MESH:C562876 DO:DOID:0111583|OMIM:212070 MESH:D000592 C16.320.565.100/C562876|C18.452.648.100/C562876 C16.320.565.100|C18.452.648.100 Genetic disease (inborn)|Metabolic disease Carbuncle MESH:D002270 An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is STAPHYLOCOCCUS AUREUS. Carbuncles produce fever, leukocytosis, extreme pain, and prostration. MESH:D005667 C01.150.252.410.868.951.270.200|C01.150.252.819.770.270.200|C01.800.720.770.270.200|C17.800.838.765.770.270.200 C01.150.252.410.868.951.270|C01.150.252.819.770.270|C01.800.720.770.270|C17.800.838.765.770.270 Carbuncles Bacterial infection or mycosis|Skin disease Carcinogenesis MESH:D063646 The origin, production or development of cancer through genotypic and phenotypic changes which upset the normal balance between cell proliferation and cell death. Carcinogenesis generally requires a constellation of steps, which may occur quickly or over a period of many years. MESH:D009385 C04.697.098|C23.550.727.098 C04.697|C23.550.727 Carcinogeneses|Oncogeneses|Oncogenesis|Tumorigeneses|Tumorigenesis Cancer|Pathology (process) Carcinoid Heart Disease MESH:D002275 Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation. MESH:D006331|MESH:D008303 C04.557.465.625.650.200.500.205|C04.557.470.200.025.200.500.205|C04.557.580.625.650.200.500.205|C14.280.104 C04.557.465.625.650.200.500|C04.557.470.200.025.200.500|C04.557.580.625.650.200.500|C14.280 Carcinoid Heart Diseases|Heart Disease, Carcinoid|Heart Diseases, Carcinoid Cancer|Cardiovascular disease Carcinoid Tumor MESH:D002276 A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182) MESH:D000230|MESH:D018358 C04.557.465.625.650.200|C04.557.470.200.025.200|C04.557.580.625.650.200 C04.557.465.625.650|C04.557.470.200.025|C04.557.580.625.650 Argentaffinoma|Argentaffinomas|Carcinoid|Carcinoid, Goblet Cell|Carcinoids|Carcinoids, Goblet Cell|Carcinoid Tumors|Goblet Cell Carcinoid|Goblet Cell Carcinoids|Tumor, Carcinoid|Tumors, Carcinoid Cancer Carcinoid Tumors, Intestinal MESH:C562842 OMIM:114900 MESH:D002276|MESH:D007414 C04.557.465.625.650.200/C562842|C04.557.470.200.025.200/C562842|C04.557.580.625.650.200/C562842|C04.588.274.476.411/C562842|C06.301.371.411/C562842|C06.405.249.411/C562842|C06.405.469.491/C562842 C04.557.465.625.650.200|C04.557.470.200.025.200|C04.557.580.625.650.200|C04.588.274.476.411|C06.301.371.411|C06.405.249.411|C06.405.469.491 Cancer|Digestive system disease Carcinoma MESH:D002277 DO:DOID:305|DO:DOID:4015 A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm and not a synonym for 'cancer.' MESH:D009375 C04.557.470.200 C04.557.470 Anaplastic Carcinoma|Anaplastic Carcinomas|Carcinoma, Anaplastic|Carcinomas|Carcinoma, Spindle Cell|Carcinoma, Spindle-Cell|Carcinomatoses|Carcinomatosis|Carcinoma, Undifferentiated|Epithelial Neoplasm, Malignant|Epithelial Neoplasms, Malignant|Epithelial Tumor, Malignant|Epithelial Tumors, Malignant|Epithelioma|Epitheliomas|Malignant Epithelial Neoplasm|Malignant Epithelial Neoplasms|Malignant Epithelial Tumor|Malignant Epithelial Tumors|Neoplasm, Malignant Epithelial|Neoplasms, Malignant Epithelial|Spindle-Cell Carcinoma|Spindle-Cell Carcinomas|Tumor, Malignant Epithelial|Undifferentiated Carcinoma|Undifferentiated Carcinomas Cancer Carcinoma 256, Walker MESH:D002279 A transplantable carcinoma of the rat that originally appeared spontaneously in the mammary gland of a pregnant albino rat, and which now resembles a carcinoma in young transplants and a sarcoma in older transplants. (Stedman, 25th ed) MESH:D002296|MESH:D009374 C04.557.435.290.210|C04.557.450.795.290.210|C04.619.045 C04.557.435.290|C04.557.450.795.290|C04.619 Carcinosarcoma 256, Walker|Walker Carcinoma 256|Walker Carcinosarcoma 256 Cancer Carcinoma, Acinar Cell MESH:D018267 DO:DOID:3025 A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575) MESH:D000230 C04.557.470.200.025.215 C04.557.470.200.025 Acinar Carcinoma|Acinar Carcinomas|Acinar Cell Adenocarcinoma|Acinar Cell Adenocarcinomas|Acinar Cell Carcinoma|Acinar Cell Carcinomas|Acinic Cell Adenocarcinoma|Acinic Cell Adenocarcinomas|Acinic Cell Carcinoma|Acinic Cell Carcinomas|Acinic Cell Tumor|Acinic Cell Tumors|Adenocarcinoma, Acinar Cell|Adenocarcinoma, Acinic Cell|Adenocarcinomas, Acinar Cell|Adenocarcinomas, Acinic Cell|Carcinoma, Acinar|Carcinoma, Acinic Cell|Carcinomas, Acinar|Carcinomas, Acinar Cell|Carcinomas, Acinic Cell|Serous Acinar Adenoma|Tumor, Acinic Cell|Tumors, Acinic Cell Cancer Carcinoma, Adenoid Cystic MESH:D003528 DO:DOID:0080202|DO:DOID:4866 Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed) MESH:D000230 C04.557.470.200.025.220 C04.557.470.200.025 Adenocystic Carcinoma|Adenocystic Carcinomas|Adenoid Cystic Carcinoma|Adenoid Cystic Carcinomas|Carcinoma, Adenocystic|Carcinomas, Adenocystic|Carcinomas, Adenoid Cystic|Cylindroma|Cylindromas|Cystic Carcinoma, Adenoid|Cystic Carcinomas, Adenoid Cancer Carcinoma, Adenosquamous MESH:D018196 DO:DOID:4830 A mixed adenocarcinoma and squamous cell or epidermoid carcinoma. MESH:D002277|MESH:D018193 C04.557.435.250|C04.557.470.200.150 C04.557.435|C04.557.470.200 Adenosquamous Carcinoma|Adenosquamous Carcinomas|Carcinomas, Adenosquamous Cancer Carcinoma, Basal Cell MESH:D002280 OMIM:605462|OMIM:613058|OMIM:613059|OMIM:613061|OMIM:613062|OMIM:613063|OMIM:614740 A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471) MESH:D002277|MESH:D018295 C04.557.470.200.165|C04.557.470.565.165 C04.557.470.200|C04.557.470.565 Basal Cell Carcinoma|BASAL CELL CARCINOMA, MULTIPLE, INCLUDED|BASAL CELL CARCINOMA, NONSYNDROMIC, INCLUDED|Basal Cell Carcinomas|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 2|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 3|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 4|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 5|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 6|BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7|Basal Cell Epithelioma|Basal Cell Epitheliomas|BCC1|BCC2|BCC3|BCC4|BCC5|BCC6|BCC7|Carcinoma, Basal Cell, Pigmented|Carcinomas, Basal Cell|Epithelioma, Basal Cell|Epitheliomas, Basal Cell|Rodent Ulcer|Rodent Ulcers|Ulcer, Rodent|Ulcers, Rodent Cancer Carcinoma, Basosquamous MESH:D002281 DO:DOID:5063 A skin carcinoma that histologically exhibits both basal and squamous elements. (From Dorland, 27th ed) MESH:D002277|MESH:D018295 C04.557.470.200.170|C04.557.470.565.170 C04.557.470.200|C04.557.470.565 Basosquamous Carcinoma|Basosquamous Carcinomas|Carcinomas, Basosquamous Cancer Carcinoma, Bronchogenic MESH:D002283 DO:DOID:3904 Malignant neoplasm arising from the epithelium of the BRONCHI. It represents a large group of epithelial lung malignancies which can be divided into two clinical groups: SMALL CELL LUNG CANCER and NON-SMALL-CELL LUNG CARCINOMA. MESH:D001984|MESH:D008175 C04.588.894.797.520.109.220|C08.381.540.140|C08.785.520.100.220 C04.588.894.797.520.109|C08.381.540|C08.785.520.100 Bronchial Carcinoma|Bronchial Carcinomas|Bronchogenic Carcinoma|Bronchogenic Carcinomas|Carcinoma, Bronchial|Carcinomas, Bronchial|Carcinomas, Bronchogenic Cancer|Respiratory tract disease Carcinoma, Brown-Pearce MESH:D002284 A transplantable EPITHELIAL CELL neoplasm of rabbits. MESH:D009374 C04.619.124 C04.619 Brown-Pearce Carcinoma|Brown-Pearce Epithelioma|Carcinoma, Brown Pearce|Epithelioma, Brown Pearce|Epithelioma, Brown-Pearce Cancer Carcinoma, Ductal MESH:D044584 DO:DOID:3007 Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND. MESH:D000230|MESH:D018299 C04.557.470.200.025.232|C04.557.470.615.132 C04.557.470.200.025|C04.557.470.615 Carcinomas, Ductal|Ductal Carcinoma|Ductal Carcinomas Cancer Carcinoma, Ductal, Breast MESH:D018270 DO:DOID:3008 An invasive (infiltrating) CARCINOMA of the mammary ductal system (MAMMARY GLANDS) in the human BREAST. MESH:D001943|MESH:D044584 C04.557.470.200.025.232.500|C04.557.470.615.132.500|C04.588.180.390|C17.800.090.500.390 C04.557.470.200.025.232|C04.557.470.615.132|C04.588.180|C17.800.090.500 Carcinoma, Infiltrating Duct|Carcinoma, Invasive Ductal, Breast|Carcinoma, Mammary Ductal|Carcinomas, Infiltrating Duct|Carcinomas, Mammary Ductal|Invasive Ductal Carcinoma, Breast|Mammary Ductal Carcinoma|Mammary Ductal Carcinomas Cancer|Skin disease Carcinoma, Ehrlich Tumor MESH:D002286 DO:DOID:5050 A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms. MESH:D002277|MESH:D009374 C04.557.470.200.200|C04.619.169 C04.557.470.200|C04.619 Ascites Tumor, Ehrlich|Ehrlich Ascites Tumor|Ehrlich Tumor Carcinoma|Tumor, Ehrlich Ascites Cancer Carcinoma, Embryonal MESH:D018236 DO:DOID:3308 A highly malignant, primitive form of carcinoma, probably of germinal cell or teratomatous derivation, usually arising in a gonad and rarely in other sites. It is rare in the female ovary, but in the male it accounts for 20% of all testicular tumors. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, p1595) MESH:D009373 C04.557.465.200 C04.557.465 Carcinomas, Embryonal|Embryonal Carcinoma|Embryonal Carcinomas Cancer Carcinoma, Endometrioid MESH:D018269 DO:DOID:2871 An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues. MESH:D000230|MESH:D010051|MESH:D016889 C04.557.470.200.025.240|C04.588.945.418.948.585.124|C12.050.351.500.056.630.705.331|C12.050.351.937.418.685.331|C12.050.351.937.418.875.200.124|C12.100.250.056.630.705.331|C12.900.418.685.331|C12.900.418.875.200.124|C19.391.630.705.331 C04.557.470.200.025|C04.588.945.418.948.585|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.050.351.937.418.875.200|C12.100.250.056.630.705|C12.900.418.685|C12.900.418.875.200|C19.391.630.705 Adenocarcinoma, Endometrioid|Adenocarcinomas, Endometrioid|Carcinomas, Endometrioid|Endometrioid Adenocarcinoma|Endometrioid Adenocarcinomas|Endometrioid Carcinoma|Endometrioid Carcinomas Cancer|Endocrine system disease|Urogenital disease (female) Carcinoma, Giant Cell MESH:D018286 DO:DOID:5583 An epithelial neoplasm characterized by unusually large anaplastic cells. It is highly malignant with fulminant clinical course, bizarre histologic appearance and poor prognosis. It is most common in the lung and thyroid. (From Stedman, 25th ed & Segen, Dictionary of Modern Medicine, 1992) MESH:D002277 C04.557.470.200.220 C04.557.470.200 Carcinomas, Giant Cell|Cell Carcinoma, Giant|Cell Carcinomas, Giant|Giant Cell Carcinoma|Giant Cell Carcinomas Cancer Carcinoma, Hepatocellular MESH:D006528 DO:DOID:684|OMIM:114550 A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested. MESH:D000230|MESH:D008113 C04.557.470.200.025.255|C04.588.274.623.160|C06.301.623.160|C06.552.697.160 C04.557.470.200.025|C04.588.274.623|C06.301.623|C06.552.697 Adult Liver Cancer|Adult Liver Cancers|Cancer, Adult Liver|CANCER, HEPATOCELLULAR|Cancers, Adult Liver|Carcinoma, Liver Cell|Carcinomas, Hepatocellular|Carcinomas, Liver Cell|Cell Carcinoma, Liver|Cell Carcinomas, Liver|HCC|HEPATOBLASTOMA CAUSED BY SOMATIC MUTATION, INCLUDED|Hepatocellular Carcinoma|Hepatocellular Carcinomas|Hepatoma|HEPATOMA HEPATOBLASTOMA, INCLUDED|Hepatomas|LCC|LIVER CANCER|Liver Cancer, Adult|Liver Cancers, Adult|Liver Cell Carcinoma|Liver Cell Carcinoma, Adult|Liver Cell Carcinomas Cancer|Digestive system disease Carcinoma in Situ MESH:D002278 DO:DOID:8719 A lesion with cytological characteristics associated with invasive carcinoma but the tumor cells are confined to the epithelium of origin, without invasion of the basement membrane. MESH:D002277 C04.557.470.200.240 C04.557.470.200 Carcinoma, Intraepithelial|Carcinoma, Preinvasive|Intraepithelial Carcinoma|Intraepithelial Neoplasm|Intraepithelial Neoplasms|Neoplasm, Intraepithelial|Neoplasms, Intraepithelial|Preinvasive Carcinoma Cancer Carcinoma, Intraductal, Noninfiltrating MESH:D002285 A noninvasive (noninfiltrating) carcinoma of the breast characterized by a proliferation of malignant epithelial cells confined to the mammary ducts or lobules, without light-microscopy evidence of invasion through the basement membrane into the surrounding stroma. MESH:D000071960|MESH:D000230|MESH:D018299 C04.557.470.200.025.275|C04.557.470.200.240.187.250|C04.557.470.615.275 C04.557.470.200.025|C04.557.470.200.240.187|C04.557.470.615 Atypical Ductal Hyperplasia|Atypical Ductal Hyperplasias|Carcinoma, Intraductal|Carcinoma, Noninfiltrating Intraductal|Carcinomas, Intraductal|Carcinomas, Noninfiltrating Intraductal|DCIS|Ductal Carcinoma In Situ|Ductal Hyperplasia, Atypical|Ductal Hyperplasias, Atypical|Hyperplasia, Atypical Ductal|Hyperplasias, Atypical Ductal|Intraductal Carcinoma|Intraductal Carcinoma, Noninfiltrating|Intraductal Carcinomas|Intraductal Carcinomas, Noninfiltrating|Noninfiltrating Intraductal Carcinoma|Noninfiltrating Intraductal Carcinomas Cancer Carcinoma, Islet Cell MESH:D018273 DO:DOID:1798 A primary malignant neoplasm of the pancreatic ISLET CELLS. Usually it involves the non-INSULIN-producing cell types, the PANCREATIC ALPHA CELLS and the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS) in GLUCAGONOMA and SOMATOSTATINOMA, respectively. MESH:D000230|MESH:D010190 C04.557.470.200.025.290|C04.588.274.761.500|C04.588.322.475.500|C06.301.761.500|C06.689.667.500|C19.344.421.500 C04.557.470.200.025|C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Carcinomas, Islet Cell|Islet Cell Carcinoma|Islet Cell Carcinomas|Islet Cell Tumor, Malignant Cancer|Digestive system disease|Endocrine system disease Carcinoma, Krebs 2 MESH:D002287 A transplantable neoplasm of mice. MESH:D002277|MESH:D009374 C04.557.470.200.255|C04.619.214 C04.557.470.200|C04.619 Krebs 2 Carcinoma Cancer Carcinoma, Large Cell MESH:D018287 DO:DOID:4552 A tumor of undifferentiated (anaplastic) cells of large size. It is usually bronchogenic. (From Dorland, 27th ed) MESH:D002277 C04.557.470.200.260 C04.557.470.200 Carcinomas, Large Cell|Cell Carcinoma, Large|Cell Carcinomas, Large|Large Cell Carcinoma|Large Cell Carcinomas Cancer Carcinoma, Lewis Lung MESH:D018827 A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy. MESH:D002277|MESH:D009374 C04.557.470.200.280|C04.619.230 C04.557.470.200|C04.619 Lewis Lung Carcinoma|Lung Carcinoma, Lewis Cancer Carcinoma, Lobular MESH:D018275 DO:DOID:3457 A type of BREAST CANCER where the abnormal malignant cells form in the lobules, or milk-producing glands, of the breast. MESH:D000230|MESH:D001943|MESH:D018299 C04.557.470.200.025.305|C04.557.470.615.305|C04.588.180.437|C17.800.090.500.437 C04.557.470.200.025|C04.557.470.615|C04.588.180|C17.800.090.500 Carcinomas, Lobular|Lobular Carcinoma|Lobular Carcinomas Cancer|Skin disease Carcinoma, Medullary MESH:D018276 A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992) MESH:D018278|MESH:D018299 C04.557.465.625.650.240.315|C04.557.470.200.025.370.315|C04.557.470.615.315|C04.557.580.625.650.240.315 C04.557.465.625.650.240|C04.557.470.200.025.370|C04.557.470.615|C04.557.580.625.650.240 Carcinomas, Medullary|Medullary Carcinoma|Medullary Carcinomas Cancer Carcinoma, Merkel Cell MESH:D015266 A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245) MESH:D014412|MESH:D018278|MESH:D027601 C01.925.256.721.150|C01.925.928.216|C04.557.465.625.650.240.325|C04.557.470.200.025.370.325|C04.557.580.625.650.240.325 C01.925.256.721|C01.925.928|C04.557.465.625.650.240|C04.557.470.200.025.370|C04.557.580.625.650.240 Cancer, Merkel Cell|Cell Cancer, Merkel|Merkel Cell Cancer|Merkel Cell Carcinoma|Merkel Cell Tumor|Merkle Tumors|Tumor, Merkel Cell|Tumors, Merkle Cancer|Viral disease Carcinoma, Mucoepidermoid MESH:D018277 DO:DOID:4531 A tumor of both low- and high-grade malignancy. The low-grade grow slowly, appear in any age group, and are readily cured by excision. The high-grade behave aggressively, widely infiltrate the salivary gland and produce lymph node and distant metastases. Mucoepidermoid carcinomas account for about 21% of the malignant tumors of the parotid gland and 10% of the sublingual gland. They are the most common malignant tumor of the parotid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575; Holland et al., Cancer Medicine, 3d ed, p1240) MESH:D000230|MESH:D018297 C04.557.470.200.025.340|C04.557.470.590.340 C04.557.470.200.025|C04.557.470.590 Carcinomas, Mucoepidermoid|Mucoepidermoid Carcinoma|Mucoepidermoid Carcinomas Cancer Carcinoma, Neuroendocrine MESH:D018278 DO:DOID:1800 A group of carcinomas which share a characteristic morphology, often being composed of clusters and trabecular sheets of round 'blue cells', granular chromatin, and an attenuated rim of poorly demarcated cytoplasm. Neuroendocrine tumors include carcinoids, small ('oat') cell carcinomas, medullary carcinoma of the thyroid, Merkel cell tumor, cutaneous neuroendocrine carcinoma, pancreatic islet cell tumors, and pheochromocytoma. Neurosecretory granules are found within the tumor cells. (Segen, Dictionary of Modern Medicine, 1992) MESH:D000230|MESH:D018358 C04.557.465.625.650.240|C04.557.470.200.025.370|C04.557.580.625.650.240 C04.557.465.625.650|C04.557.470.200.025|C04.557.580.625.650 Carcinomas, Neuroendocrine|Neuroendocrine Carcinoma|Neuroendocrine Carcinomas Cancer Carcinoma, Non-Small-Cell Lung MESH:D002289 DO:DOID:3908 A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy. MESH:D002283 C04.588.894.797.520.109.220.249|C08.381.540.140.500|C08.785.520.100.220.500 C04.588.894.797.520.109.220|C08.381.540.140|C08.785.520.100.220 Carcinoma, Non Small Cell Lung|Carcinoma, Non-Small Cell Lung|Carcinomas, Non-Small-Cell Lung|Lung Carcinoma, Non-Small-Cell|Lung Carcinomas, Non-Small-Cell|Nonsmall Cell Lung Cancer|Non-Small Cell Lung Cancer|Non Small Cell Lung Carcinoma|Non-Small Cell Lung Carcinoma|Non-Small-Cell Lung Carcinoma|Non-Small-Cell Lung Carcinomas Cancer|Respiratory tract disease Carcinoma, Ovarian Epithelial MESH:D000077216 A malignant neoplasm that originates in cells on the surface EPITHELIUM of the ovary and is the most common form of ovarian cancer. There are five histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Mutations in BRCA1, OPCML, PRKN, PIK3CA, AKT1, CTNNB1, RRAS2, and CDH1 genes are associated with this cancer. MESH:D002277|MESH:D010051 C04.557.470.200.295|C04.588.322.455.199|C12.050.351.500.056.630.705.350|C12.050.351.937.418.685.350|C12.100.250.056.630.705.350|C12.900.418.685.350|C19.344.410.199|C19.391.630.705.350 C04.557.470.200|C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C19.344.410|C19.391.630.705 Cancer, Epithelial Ovarian|Cancer, Ovarian Epithelial|Carcinoma, Epithelial Ovarian|Epithelial Cancer, Ovarian|Epithelial Carcinoma, Ovarian|Epithelial Ovarian Cancer|Epithelial Ovarian Cancers|Epithelial Ovarian Carcinoma|Epithelial Ovarian Carcinomas|Ovarian Cancer, Epithelial|Ovarian Carcinoma, Epithelial|Ovarian Epithelial Cancer|Ovarian Epithelial Cancers|Ovarian Epithelial Carcinoma|Ovarian Epithelial Carcinomas Cancer|Endocrine system disease|Urogenital disease (female) Carcinoma, Pancreatic Ductal MESH:D021441 DO:DOID:3587 Carcinoma that arises from the PANCREATIC DUCTS. It accounts for the majority of cancers derived from the PANCREAS. MESH:D010190|MESH:D044584 C04.557.470.200.025.232.750|C04.557.470.615.132.750|C04.588.274.761.750|C04.588.322.475.750|C06.301.761.750|C06.689.667.625|C19.344.421.750 C04.557.470.200.025.232|C04.557.470.615.132|C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Carcinoma, Ductal, Pancreatic|Carcinoma, Pancreas Duct-Cell|Carcinomas, Pancreas Duct-Cell|Carcinomas, Pancreatic Ductal|Ductal Carcinoma of the Pancreas|Ductal Carcinoma, Pancreatic|Ductal Carcinomas, Pancreatic|Duct Cell Carcinoma of the Pancreas|Duct-Cell Carcinoma of the Pancreas|Duct Cell Carcinoma, Pancreas|Duct-Cell Carcinoma, Pancreas|Duct-Cell Carcinomas, Pancreas|Pancreas Duct-Cell Carcinoma|Pancreas Duct-Cell Carcinomas|Pancreatic Ductal Carcinoma|Pancreatic Ductal Carcinomas|Pancreatic Duct Cell Carcinoma Cancer|Digestive system disease|Endocrine system disease Carcinoma, Papillary MESH:D002291 DO:DOID:3113 A malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. (Stedman, 25th ed) MESH:D002277|MESH:D018307 C04.557.470.200.360|C04.557.470.700.360 C04.557.470.200|C04.557.470.700 Carcinomas, Papillary|Papillary Carcinoma|Papillary Carcinomas Cancer Carcinoma, Papillary, Follicular MESH:D018265 DO:DOID:3968 A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271) MESH:D000231|MESH:D018263 C04.557.470.200.025.060.225|C04.557.470.200.025.085.225 C04.557.470.200.025.060|C04.557.470.200.025.085 Cancer Carcinoma, Renal Cell MESH:D002292 DO:DOID:4450|DO:DOID:4464|DO:DOID:4465|DO:DOID:4467|DO:DOID:4471|DO:DOID:4473|OMIM:144700|OMIM:300854|OMIM:605074 A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. MESH:D000230|MESH:D007680 C04.557.470.200.025.390|C04.588.945.947.535.160|C12.050.351.937.820.535.160|C12.050.351.968.419.473.160|C12.200.758.820.750.160|C12.200.777.419.473.160|C12.900.820.535.160|C12.950.419.473.160|C12.950.983.535.160 C04.557.470.200.025|C04.588.945.947.535|C12.050.351.937.820.535|C12.050.351.968.419.473|C12.200.758.820.750|C12.200.777.419.473|C12.900.820.535|C12.950.419.473|C12.950.983.535 Adenocarcinoma Of Kidney|ADENOCARCINOMA OF KIDNEY NONPAPILLARY RENAL CARCINOMA 1 LOCUS, INCLUDED|Adenocarcinoma Of Kidneys|Adenocarcinoma, Renal|Adenocarcinoma, Renal Cell|Adenocarcinomas, Renal Cell|Cancer, Renal Cell|Carcinoma, Collecting Duct|Carcinoma, Collecting Duct (Kidney)|Carcinoma, Hypernephroid|Carcinoma, Nephroid|Carcinoma, Renal|Carcinomas, Collecting Duct|Carcinomas, Collecting Duct (Kidney)|Carcinomas, Renal Cell|Chromophil Renal Cell Carcinoma|Chromophobe Renal Cell Carcinoma|Clear Cell Renal Carcinoma|Clear Cell Renal Cell Carcinoma|Collecting Duct Carcinoma|Collecting Duct Carcinoma (Kidney)|Collecting Duct Carcinoma of the Kidney|Collecting Duct Carcinomas|Collecting Duct Carcinomas (Kidney)|Grawitz Tumor|Hypernephroid Carcinoma|Hypernephroid Carcinomas|Hypernephroma|Hypernephromas|Kidney, Adenocarcinoma Of|Nephroid Carcinoma|Nephroid Carcinomas|NRC1, INCLUDED|Papillary Renal Cell Carcinoma|RCC|RCCP1|RCCX1|Renal Adenocarcinoma|Renal Adenocarcinomas|Renal Carcinoma|Renal Carcinomas|Renal Cell Adenocarcinoma|Renal Cell Adenocarcinomas|Renal Cell Cancer|Renal Cell Cancers|Renal Cell Carcinoma|RENAL CELL CARCINOMA, NONPAPILLARY|Renal Cell Carcinoma, Papillary|RENAL CELL CARCINOMA, PAPILLARY, 1|Renal Cell Carcinomas|RENAL CELL CARCINOMA, Xp11-ASSOCIATED|Renal Collecting Duct Carcinoma|Sarcomatoid Renal Cell Carcinoma|Tumor, Grawitz Cancer|Urogenital disease (female)|Urogenital disease (male) Carcinoma, Signet Ring Cell MESH:D018279 DO:DOID:3493 A poorly differentiated adenocarcinoma in which the nucleus is pressed to one side by a cytoplasmic droplet of mucus. It usually arises in the gastrointestinal system. MESH:D000230|MESH:D018297 C04.557.470.200.025.415|C04.557.470.590.415 C04.557.470.200.025|C04.557.470.590 Signet Ring Cell Carcinoma Cancer Carcinoma, Skin Appendage MESH:D018280 A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed) MESH:D000230|MESH:D018294 C04.557.470.200.025.420|C04.557.470.550.420 C04.557.470.200.025|C04.557.470.550 Appendage Carcinoma, Skin|Appendage Carcinomas, Skin|Carcinomas, Skin Appendage|Skin Appendage Carcinoma|Skin Appendage Carcinomas Cancer Carcinoma, Small Cell MESH:D018288 DO:DOID:5411|OMIM:182280 An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7) MESH:D002277 C04.557.470.200.380 C04.557.470.200 Carcinoma, Oat Cell|Carcinomas, Oat Cell|Carcinomas, Small Cell|Oat Cell Carcinoma|Oat Cell Carcinomas|SCCL|SCLC|SCLC1|SMALL CELL CANCER OF THE LUNG|Small Cell Carcinoma|Small Cell Carcinomas Cancer Carcinoma, Squamous Cell MESH:D002294 DO:DOID:1749 A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed) MESH:D002277|MESH:D018307 C04.557.470.200.400|C04.557.470.700.400 C04.557.470.200|C04.557.470.700 Carcinoma, Epidermoid|Carcinoma, Planocellular|Carcinomas, Epidermoid|Carcinomas, Planocellular|Carcinoma, Squamous|Carcinomas, Squamous|Carcinomas, Squamous Cell|Epidermoid Carcinoma|Epidermoid Carcinomas|Planocellular Carcinoma|Planocellular Carcinomas|Squamous Carcinoma|Squamous Carcinomas|Squamous Cell Carcinoma|Squamous Cell Carcinomas Cancer Carcinoma, Transitional Cell MESH:D002295 DO:DOID:2671 A malignant neoplasm derived from TRANSITIONAL EPITHELIAL CELLS, occurring chiefly in the URINARY BLADDER; URETERS; or RENAL PELVIS. MESH:D002277 C04.557.470.200.430 C04.557.470.200 Carcinomas, Transitional Cell|Cell Carcinomas, Transitional|Cell Carcinoma, Transitional|Transitional Cell Carcinoma|Transitional Cell Carcinomas Cancer Carcinoma, Verrucous MESH:D018289 DO:DOID:3737 A variant of well-differentiated epidermoid carcinoma that is most common in the oral cavity, but also occurs in the larynx, nasal cavity, esophagus, penis, anorectal region, vulva, vagina, uterine cervix, and skin, especially on the sole of the foot. Most intraoral cases occur in elderly male abusers of smokeless tobacco. The treatment is surgical resection. Radiotherapy is not indicated, as up to 30% treated with radiation become highly aggressive within six months. (Segen, Dictionary of Modern Medicine, 1992) MESH:D002277|MESH:D018307 C04.557.470.200.450|C04.557.470.700.450 C04.557.470.200|C04.557.470.700 Carcinomas, Verrucous|Verrucous Carcinoma|Verrucous Carcinomas Cancer Carcinosarcoma MESH:D002296 DO:DOID:4236 A malignant neoplasm that contains elements of carcinoma and sarcoma so extensively intermixed as to indicate neoplasia of epithelial and mesenchymal tissue. (Stedman, 25th ed) MESH:D012509|MESH:D018193 C04.557.435.290|C04.557.450.795.290 C04.557.435|C04.557.450.795 Carcinosarcomas Cancer Cardiac Arrhythmia, Ankyrin-B-Related MESH:C566996 OMIM:600919 MESH:D001145 C14.280.067/C566996|C23.550.073/C566996 C14.280.067|C23.550.073 Ankyrin-B Syndrome|ANKYRIN-B SYNDROME LONG QT SYNDROME 4, INCLUDED|LQT4, INCLUDED Cardiovascular disease|Pathology (process) CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS OMIM:615441 DO:DOID:0060679 MESH:C536334|MESH:D018908 C05.651.515/615441|C10.597.613.593/615441|C14.280.067.845.940/C536334/615441|C14.280.123.875.940/C536334/615441|C23.550.073.845.940/C536334/615441|C23.550.695/615441|C23.888.592.608.593/615441 C05.651.515|C10.597.613.593|C14.280.067.845.940/C536334|C14.280.123.875.940/C536334|C23.550.073.845.940/C536334|C23.550.695|C23.888.592.608.593 CARDAR|CPVT5|TRIADEN KNOCKOUT SYNDROME|VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS Cardiovascular disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Cardiac Complexes, Premature MESH:D005117 A group of cardiac arrhythmias in which the cardiac contractions are not initiated at the SINOATRIAL NODE. They include both atrial and ventricular premature beats, and are also known as extra or ectopic heartbeats. Their frequency is increased in heart diseases. MESH:D000075224|MESH:D001145 C14.280.067.325|C14.280.123.375|C23.550.073.325 C14.280.067|C14.280.123|C23.550.073 Beat, Premature|Beats, Premature|Cardiac Complex, Premature|Complexes, Premature Cardiac|Ectopic Heartbeat|Ectopic Heartbeats|Extrasystole|Extrasystoles|Heartbeat, Ectopic|Heartbeats, Ectopic|Premature Beat|Premature Beats|Premature Cardiac Complex|Premature Cardiac Complexes|Premature Cardiac Complices Cardiovascular disease|Pathology (process) CARDIAC CONDUCTION DEFECT OMIM:115080 MESH:D000075224|MESH:D016757 C14.280.123/115080|C14.280.383.220/115080|C23.550.260.322.250/115080 C14.280.123|C14.280.383.220|C23.550.260.322.250 FAMILIAL SUDDEN DEATH, INCLUDED|SCD, INCLUDED|SUDDEN CARDIAC DEATH, INCLUDED Cardiovascular disease|Pathology (process) Cardiac Conduction Defect, Nonprogressive MESH:C566186 MESH:D000075224|MESH:D001145 C14.280.067/C566186|C14.280.123/C566186|C23.550.073/C566186 C14.280.067|C14.280.123|C23.550.073 Cardiovascular disease|Pathology (process) Cardiac Conduction Defect, Nonspecific MESH:C567557 MESH:D000075224|MESH:D053840 C14.280.067.322/C567557|C14.280.123.250/C567557|C14.280.123/C567557|C16.320.100/C567557 C14.280.067.322|C14.280.123|C14.280.123.250|C16.320.100 Cardiovascular disease|Genetic disease (inborn) CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY OMIM:616117 MESH:D000075224|MESH:D002311 C14.280.123/616117|C14.280.195.160/616117|C14.280.238.070/616117|C16.320.488.750/616117 C14.280.123|C14.280.195.160|C14.280.238.070|C16.320.488.750 CCDD Cardiovascular disease|Genetic disease (inborn) Cardiac Conduction System Disease MESH:D000075224 Diseases characterized by pathological irregularities in the HEART CONDUCTION SYSTEM. They may be associated with other heart diseases and syndromes (e.g., BRUGADA SYNDROME; NEUROMUSCULAR DISEASE, HEART BLOCKS), isolated or may result from injuries. You can have a conduction disorder without having an arrhythmia, but some arrhythmias arise from conduction disorders. OMIM: 601144. MESH:D006331 C14.280.123 C14.280 Cardiac Conduction Defect|Cardiac Conduction Defects|Cardiac Conduction System Diseases|Conduction Defect, Cardiac|Defect, Cardiac Conduction Cardiovascular disease Cardiac form of generalized glycogenosis MESH:C536839 MESH:D006009 C10.228.140.163.100.435.340/C536839|C16.320.565.189.435.340/C536839|C16.320.565.202.449.500/C536839|C16.320.565.595.554.340/C536839|C18.452.132.100.435.340/C536839|C18.452.648.189.435.340/C536839|C18.452.648.202.449.500/C536839|C18.452.648.595.554.340/C536839 C10.228.140.163.100.435.340|C16.320.565.189.435.340|C16.320.565.202.449.500|C16.320.565.595.554.340|C18.452.132.100.435.340|C18.452.648.189.435.340|C18.452.648.202.449.500|C18.452.648.595.554.340 Cardiomegalia glycogenica diffusa|Glycogenosis, Generalized, Cardiac Form Genetic disease (inborn)|Metabolic disease|Nervous system disease Cardiac Lipidosis, Familial MESH:C565884 MESH:D008064|MESH:D009202 C14.280.238/C565884|C16.320.565.398.641/C565884|C18.452.584.563.641/C565884|C18.452.648.398.641/C565884 C14.280.238|C16.320.565.398.641|C18.452.584.563.641|C18.452.648.398.641 Cardiovascular disease|Genetic disease (inborn)|Metabolic disease Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies MESH:C563414 DO:DOID:0111697|OMIM:600987 MESH:D002971|MESH:D002972|MESH:D006330|MESH:D008831 C05.500.460.185/C563414|C05.660.207.540.460.185/C563414|C05.660.207.620/C563414|C07.320.440.185/C563414|C07.465.409.225/C563414|C07.465.525.164/C563414|C07.465.525.185/C563414|C07.650.500.460.185/C563414|C07.650.525.164/C563414|C07.650.525.185/C563414|C10.500.507.400.500/C563414|C14.240.400/C563414|C14.280.400/C563414|C16.131.240.400/C563414|C16.131.621.207.540.460.185/C563414|C16.131.621.207.620/C563414|C16.131.666.507.400.500/C563414|C16.131.850.500.460.185/C563414|C16.131.850.525.164/C563414|C16.131.850.525.185/C563414 C05.500.460.185|C05.660.207.540.460.185|C05.660.207.620|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C10.500.507.400.500|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.540.460.185|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY, AND DIGITAL ANOMALIES|CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT|CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION|CPCMR Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease Cardiac Output, High MESH:D016534 A state of elevated cardiac output due to conditions of either increased hemodynamic demand or reduced cardiac oxygen output. These conditions may include ANEMIA; ARTERIOVENOUS FISTULA; THYROTOXICOSIS; PREGNANCY; EXERCISE; FEVER; and HYPOXIA. In time, compensatory changes of the heart can lead to pathological form of high cardiac output and eventual HEART FAILURE. MESH:D006331|MESH:D012816 C14.280.142|C23.888.176 C14.280|C23.888 Cardiac Outputs, High|High Cardiac Output|High Cardiac Outputs Cardiovascular disease|Signs and symptoms Cardiac Output, Low MESH:D002303 A state of subnormal or depressed cardiac output at rest or during stress. It is a characteristic of CARDIOVASCULAR DISEASES, including congenital, valvular, rheumatic, hypertensive, coronary, and cardiomyopathic. The serious form of low cardiac output is characterized by marked reduction in STROKE VOLUME, and systemic vasoconstriction resulting in cold, pale, and sometimes cyanotic extremities. MESH:D006331|MESH:D012816 C14.280.148|C23.888.192 C14.280|C23.888 Low Cardiac Output|Low Cardiac Output Syndrome|Output, Low Cardiac Cardiovascular disease|Signs and symptoms Cardiac Papillary Fibroelastoma MESH:D000084122 Primary tumors, predominantly of the CARDIAC VALVES, characterized by multiple papillary frond structures. Although histologically benign, they may result in complications (e.g., valve dysfunction, EMBOLISM; STROKE; and SUDDEN DEATH). MESH:D006338 C04.588.894.309.250|C14.280.459.250 C04.588.894.309|C14.280.459 Cardiac Papillary Fibroelastomas|Fibroelastoma, Cardiac Papillary|Fibroelastoma, Papillary|Papillary Fibroelastoma|Papillary Fibroelastoma, Cardiac|Papillary Fibroelastomas Cancer|Cardiovascular disease Cardiac Septal Defects with Coarctation of the Aorta MESH:C565883 MESH:D001017|MESH:D006343 C14.240.400.090/C565883|C14.240.400.560/C565883|C14.280.400.090/C565883|C14.280.400.560/C565883|C16.131.240.400.090/C565883|C16.131.240.400.560/C565883 C14.240.400.090|C14.240.400.560|C14.280.400.090|C14.280.400.560|C16.131.240.400.090|C16.131.240.400.560 Cardiovascular disease|Congenital abnormality Cardiac Tamponade MESH:D002305 DO:DOID:115 Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse. MESH:D006331 C14.280.155 C14.280 Cardiac Tamponades|Pericardial Tamponade|Pericardial Tamponades|Tamponade, Cardiac|Tamponade, Pericardial|Tamponades, Cardiac|Tamponades, Pericardial Cardiovascular disease Cardiac Valvular Defect, Developmental MESH:C565882 MESH:D006330|MESH:D006349 C14.240.400/C565882|C14.280.400/C565882|C14.280.484/C565882|C16.131.240.400/C565882 C14.240.400|C14.280.400|C14.280.484|C16.131.240.400 Cardiovascular disease|Congenital abnormality Cardiac valvular dysplasia, X-linked MESH:C535576 OMIM:314400 MESH:D006330|MESH:D008945|MESH:D009232|MESH:D040181 C04.557.450.565.550/C535576|C14.240.400/C535576|C14.280.400/C535576|C14.280.484.400.500/C535576|C16.131.240.400/C535576|C16.320.322/C535576 C04.557.450.565.550|C14.240.400|C14.280.400|C14.280.484.400.500|C16.131.240.400|C16.320.322 CVDPX|EDS5, FORMERLY|EHLERS-DANLOS SYNDROME, TYPE V, FORMERLY|Myxomatous valvular dystrophy, X-linked|Valvular heart disease, congenital|XMVD Cancer|Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) Cardioauditory syndrome of Sanchez Cascos MESH:C535577 MESH:D003638|MESH:D006330 C09.218.458.341.186/C535577|C10.597.751.418.341.186/C535577|C14.240.400/C535577|C14.280.400/C535577|C16.131.240.400/C535577|C23.888.592.763.393.341.186/C535577 C09.218.458.341.186|C10.597.751.418.341.186|C14.240.400|C14.280.400|C16.131.240.400|C23.888.592.763.393.341.186 Sanchez Cascos cardioauditory syndrome Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Cardiocranial syndrome MESH:C535578 MESH:D000168|MESH:D006330 C05.116.099.370.894.232.015/C535578|C05.116.099.370.894.819.100/C535578|C05.660.207.240.100/C535578|C05.660.585.800.100/C535578|C05.660.906.364.100/C535578|C05.660.906.819.100/C535578|C14.240.400/C535578|C14.280.400/C535578|C16.131.240.400/C535578|C16.131.621.207.240.100/C535578|C16.131.621.585.800.100/C535578|C16.131.621.906.364.100/C535578|C16.131.621.906.819.100/C535578 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.660.207.240.100|C05.660.585.800.100|C05.660.906.364.100|C05.660.906.819.100|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.240.100|C16.131.621.585.800.100|C16.131.621.906.364.100|C16.131.621.906.819.100 Pfeiffer cardiocranial syndrome|Pfeiffer Singer Zschiesche syndrome|Pfeiffer syndrome 2|Pfeiffer-type cardiocranial syndrome Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency MESH:C565784 OMIM:604377|OMIM:615119|OMIM:616500|OMIM:616501 MESH:D002312|MESH:D017237|MESH:D030401 C05.651.460.620/C565784|C10.228.140.163.540/C565784|C10.668.491.500.500/C565784|C14.280.238.100/C565784|C14.280.484.048.750.070.160/C565784|C16.320.565.240/C565784|C18.452.132.540/C565784|C18.452.660.195/C565784|C18.452.660.560.620/C565784 C05.651.460.620|C10.228.140.163.540|C10.668.491.500.500|C14.280.238.100|C14.280.484.048.750.070.160|C16.320.565.240|C18.452.132.540|C18.452.660.195|C18.452.660.560.620 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1|CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2|CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3|CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4|CEMCOX1|CEMCOX2|CEMCOX3|CEMCOX4|Cytochrome C Oxidase Deficiency, Fatal Infantile, with Cardioencephalomyopathy|MC4DN13|MC4DN2|MC4DN6|MC4DN9|MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13|MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2|MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6|MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9 Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Cardiofaciocutaneous syndrome MESH:C535579 DO:DOID:0060233|OMIM:115150|OMIM:615278|OMIM:615279|OMIM:615280 MESH:D004476|MESH:D005183|MESH:D006330|MESH:D019066 C14.240.400/C535579|C14.280.400/C535579|C16.131.077.350/C535579|C16.131.240.400/C535579|C16.131.831.350/C535579|C16.320.850.250/C535579|C17.800.804.350/C535579|C17.800.827.250/C535579|C23.550.291.812/C535579|C23.888.338/C535579 C14.240.400|C14.280.400|C16.131.077.350|C16.131.240.400|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.550.291.812|C23.888.338 Cardio-Facio-Cutaneous Syndrome|CARDIOFACIOCUTANEOUS SYNDROME 1|CARDIOFACIOCUTANEOUS SYNDROME 2|CARDIOFACIOCUTANEOUS SYNDROME 3|CARDIOFACIOCUTANEOUS SYNDROME 4|CFC1|CFC2|CFC3|CFC4|CFCS|CFC SYNDROME Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Pathology (process)|Signs and symptoms|Skin disease Cardiomegaly MESH:D006332 Enlargement of the HEART, usually indicated by a cardiothoracic ratio above 0.50. Heart enlargement may involve the right, the left, or both HEART VENTRICLES or HEART ATRIA. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (HEART FAILURE) or several forms of CARDIOMYOPATHIES. MESH:D006331|MESH:D006984 C14.280.195|C23.300.775.250 C14.280|C23.300.775 Cardiac Hypertrophies|Cardiac Hypertrophy|Enlarged Heart|Enlargement, Heart|Heart, Enlarged|Heart Enlargement|Heart Hypertrophies|Heart Hypertrophy|Hypertrophies, Cardiac|Hypertrophies, Heart|Hypertrophy, Cardiac|Hypertrophy, Heart Cardiovascular disease|Pathology (anatomical condition) Cardiomyopathies MESH:D009202 DO:DOID:0050700 A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS). MESH:D006331 C14.280.238 C14.280 Cardiomyopathies, Primary|Cardiomyopathies, Secondary|Cardiomyopathy|Cardiomyopathy, Primary|Cardiomyopathy, Secondary|Disease, Myocardial|Disease, Primary Myocardial|Disease, Secondary Myocardial|Diseases, Myocardial|Diseases, Primary Myocardial|Diseases, Secondary Myocardial|Myocardial Disease|Myocardial Disease, Primary|Myocardial Diseases|Myocardial Disease, Secondary|Myocardial Diseases, Primary|Myocardial Diseases, Secondary|Myocardiopathies|Myocardiopathy|Primary Cardiomyopathies|Primary Cardiomyopathy|Primary Myocardial Disease|Primary Myocardial Diseases|Secondary Cardiomyopathies|Secondary Cardiomyopathy|Secondary Myocardial Disease|Secondary Myocardial Diseases Cardiovascular disease Cardiomyopathy, Alcoholic MESH:D002310 DO:DOID:12935 Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE). MESH:D009202|MESH:D020751 C14.280.238.057|C25.775.100.087.250 C14.280.238|C25.775.100.087 Alcoholic Cardiomyopathy Cardiovascular disease|Substance-related disorder Cardiomyopathy Associated With Myopathy And Sudden Death MESH:C565881 MESH:D003645|MESH:D009202 C14.280.238/C565881|C23.550.260.322/C565881 C14.280.238|C23.550.260.322 Cardiovascular disease|Pathology (process) Cardiomyopathy, Dilated MESH:D002311 DO:DOID:12930|OMIM:115200|OMIM:613424|OMIM:613642 A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein. MESH:D000083083|MESH:D006332|MESH:D009202 C14.280.195.160|C14.280.238.070|C16.320.488.750 C14.280.195|C14.280.238|C16.320.488 Cardiomyopathies, Congestive|Cardiomyopathies, Dilated|Cardiomyopathies, Familial Idiopathic|Cardiomyopathies, Idiopathic Dilated|Cardiomyopathy, Congestive|Cardiomyopathy, Dilated, 1a|CARDIOMYOPATHY, DILATED, 1GG|CARDIOMYOPATHY, DILATED, 1R|Cardiomyopathy, Dilated, Autosomal Recessive|Cardiomyopathy, Dilated, CMD1A|Cardiomyopathy, Dilated, LMNA|Cardiomyopathy, Dilated, With Conduction Defect 1|Cardiomyopathy, Dilated, with Conduction Deffect1|Cardiomyopathy, Familial Idiopathic|Cardiomyopathy, Idiopathic Dilated|CDCD1|CMD1A|CMD1GG|CMD1R|Congestive Cardiomyopathies|Congestive Cardiomyopathy|Dilated Cardiomyopathies|Dilated Cardiomyopathies, Idiopathic|Dilated Cardiomyopathy|Dilated Cardiomyopathy, Idiopathic|Familial Idiopathic Cardiomyopathies|Familial Idiopathic Cardiomyopathy|Idiopathic Cardiomyopathies, Familial|Idiopathic Cardiomyopathy, Familial|Idiopathic Dilated Cardiomyopathies|Idiopathic Dilated Cardiomyopathy|LEFT VENTRICULAR NONCOMPACTION 4, INCLUDED|LVNC4, INCLUDED Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1AA MESH:C567407 OMIM:612158 MESH:D002311 C14.280.195.160/C567407|C14.280.238.070/C567407|C16.320.488.750/C567407 C14.280.195.160|C14.280.238.070|C16.320.488.750 CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION;CMD1AA CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR|CMD1AA|CMH23, INCLUDED|NONCOMPACTION, INCLUDED Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1BB MESH:C567877 OMIM:612877 MESH:D002311 C14.280.195.160/C567877|C14.280.238.070/C567877|C16.320.488.750/C567877 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1BB Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1C MESH:C563307 OMIM:601493 MESH:D002311 C14.280.195.160/C563307|C14.280.238.070/C563307|C16.320.488.750/C563307 C14.280.195.160|C14.280.238.070|C16.320.488.750 CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION|CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24, INCLUDED|CMD1C|CMH24, INCLUDED|LEFT VENTRICULAR NONCOMPACTION 3, INCLUDED|LVNC3, INCLUDED Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1CC MESH:C567733 OMIM:613122 MESH:D002311 C14.280.195.160/C567733|C14.280.238.070/C567733|C16.320.488.750/C567733 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1CC Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1D MESH:C563306 OMIM:601494 MESH:D002311 C14.280.195.160/C563306|C14.280.238.070/C563306|C16.320.488.750/C563306 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1D|LEFT VENTRICULAR NONCOMPACTION 6, INCLUDED|LVNC6, INCLUDED Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1DD MESH:C567725 OMIM:613172 MESH:D002311 C14.280.195.160/C567725|C14.280.238.070/C567725|C16.320.488.750/C567725 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1DD Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1E MESH:C563384 OMIM:601154 MESH:D002311 C14.280.195.160/C563384|C14.280.238.070/C563384|C16.320.488.750/C563384 C14.280.195.160|C14.280.238.070|C16.320.488.750 Cardiomyopathy, Dilated, with Conduction Defect 2|Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia|CDCD2|CMD1E Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1EE MESH:C567683 OMIM:613252 MESH:D002311 C14.280.195.160/C567683|C14.280.238.070/C567683|C16.320.488.750/C567683 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1EE Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1FF MESH:C567654 OMIM:613286 MESH:D002311 C14.280.195.160/C567654|C14.280.238.070/C567654|C16.320.488.750/C567654 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1FF Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1g MESH:C565824 OMIM:604145 MESH:D002311 C14.280.195.160/C565824|C14.280.238.070/C565824|C16.320.488.750/C565824 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1G Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, DILATED, 1HH OMIM:613881 DO:DOID:0110448 MESH:D002311 C14.280.195.160/613881|C14.280.238.070/613881|C16.320.488.750/613881 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1HH Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1i MESH:C565752 OMIM:604765 MESH:D002311 C14.280.195.160/C565752|C14.280.238.070/C565752|C16.320.488.750/C565752 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1I Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, DILATED, 1II OMIM:615184 DO:DOID:0110450 MESH:D002311 C14.280.195.160/615184|C14.280.238.070/615184|C16.320.488.750/615184 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1II Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1J MESH:C565337 OMIM:605362 MESH:D002311|MESH:D006319 C09.218.458.341.887/C565337|C10.597.751.418.341.887/C565337|C14.280.195.160/C565337|C14.280.238.070/C565337|C16.320.488.750/C565337|C23.888.592.763.393.341.887/C565337 C09.218.458.341.887|C10.597.751.418.341.887|C14.280.195.160|C14.280.238.070|C16.320.488.750|C23.888.592.763.393.341.887 Cardiomyopathy, Dilated, with Sensorineural Hearing Loss, Autosomal Dominant|CMD1J Cardiovascular disease|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms CARDIOMYOPATHY, DILATED, 1JJ OMIM:615235 DO:DOID:0110438 MESH:D002311 C14.280.195.160/615235|C14.280.238.070/615235|C16.320.488.750/615235 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1JJ Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1K MESH:C565320 OMIM:605582 MESH:D002311 C14.280.195.160/C565320|C14.280.238.070/C565320|C16.320.488.750/C565320 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1K Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, DILATED, 1KK OMIM:615248 DO:DOID:0110445 MESH:D002311 C14.280.195.160/615248|C14.280.238.070/615248|C16.320.488.750/615248 C14.280.195.160|C14.280.238.070|C16.320.488.750 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED|CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, INCLUDED|CMD1KK|CMH22,|CMH22, INCLUDED|RCM4, INCLUDED Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1l MESH:C564679 OMIM:606685 MESH:D002311 C14.280.195.160/C564679|C14.280.238.070/C564679|C16.320.488.750/C564679 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1L Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1M MESH:C564390 OMIM:607482 MESH:D002311 C14.280.195.160/C564390|C14.280.238.070/C564390|C16.320.488.750/C564390 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1M Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1N MESH:C564388 OMIM:607487 MESH:D002311 C14.280.195.160/C564388|C14.280.238.070/C564388|C16.320.488.750/C564388 C14.280.195.160|C14.280.238.070|C16.320.488.750 CARDIOMYOPATHY, DILATED, 1N, FORMERLY, INCLUDED|CARDIOMYOPATHY, DILATED, 1N, FORMERLY, INCLUDED;CMD1N, FORMERLY, INCLUDED|CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25|CMD1N, FORMERLY,|CMH25 Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, DILATED, 1NN OMIM:615916 DO:DOID:0110432 MESH:D002311 C14.280.195.160/615916|C14.280.238.070/615916|C16.320.488.750/615916 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1NN Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1o MESH:C563906 OMIM:608569 MESH:D002311 C14.280.195.160/C563906|C14.280.238.070/C563906|C16.320.488.750/C563906 C14.280.195.160|C14.280.238.070|C16.320.488.750 Cardiomyopathy, Dilated, with Ventricular Tachycardia|CMD1O Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1p MESH:C563690 OMIM:609909 MESH:D002311 C14.280.195.160/C563690|C14.280.238.070/C563690|C16.320.488.750/C563690 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1P Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1q MESH:C563688 OMIM:609915 MESH:D002311 C14.280.195.160/C563688|C14.280.238.070/C563688|C16.320.488.750/C563688 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1Q Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1s MESH:C563538 OMIM:613426 MESH:D002311 C14.280.195.160/C563538|C14.280.238.070/C563538|C16.320.488.750/C563538 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1S|LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED|LVNC5, INCLUDED Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1t MESH:C566052 MESH:D002311 C14.280.195.160/C566052|C14.280.238.070/C566052|C16.320.488.750/C566052 C14.280.195.160|C14.280.238.070|C16.320.488.750 Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1u MESH:C566296 OMIM:613694 MESH:D002311 C14.280.195.160/C566296|C14.280.238.070/C566296|C16.320.488.750/C566296 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1U Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1V MESH:C566856 OMIM:613697 MESH:D002311 C14.280.195.160/C566856|C14.280.238.070/C566856|C16.320.488.750/C566856 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1V Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1w MESH:C566954 OMIM:611407 MESH:D002311 C14.280.195.160/C566954|C14.280.238.070/C566954|C16.320.488.750/C566954 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1W Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1x MESH:C566907 OMIM:611615 MESH:D002311 C14.280.195.160/C566907|C14.280.238.070/C566907|C16.320.488.750/C566907 C14.280.195.160|C14.280.238.070|C16.320.488.750 Cardiomyopathy, Dilated, With Mild or No Proximal Muscle Weakness|CMD1X Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1y MESH:C567507 OMIM:611878 MESH:D002311 C14.280.195.160/C567507|C14.280.238.070/C567507|C16.320.488.750/C567507 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1Y|LEFT VENTRICULAR NONCOMPACTION 9, INCLUDED|LVNC9, INCLUDED Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 1z MESH:C567506 OMIM:611879 MESH:D002311 C14.280.195.160/C567506|C14.280.238.070/C567506|C16.320.488.750/C567506 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD1Z Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 2a MESH:C567505 OMIM:611880 MESH:D002311 C14.280.195.160/C567505|C14.280.238.070/C567505|C16.320.488.750/C567505 C14.280.195.160|C14.280.238.070|C16.320.488.750 CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE|CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE|CMD2A Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, DILATED, 2B OMIM:614672 DO:DOID:0110441 MESH:D002311 C14.280.195.160/614672|C14.280.238.070/614672|C16.320.488.750/614672 C14.280.195.160|C14.280.238.070|C16.320.488.750 CMD2B Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Dilated, 3A MESH:C564721 MESH:D002311|MESH:D040181 C14.280.195.160/C564721|C14.280.238.070/C564721|C16.320.322/C564721|C16.320.488.750/C564721 C14.280.195.160|C14.280.238.070|C16.320.322|C16.320.488.750 Cardiomyopathy, Dilated, X-Linked Fatal Infantile Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, DILATED, 3B OMIM:302045 DO:DOID:0081164|DO:DOID:0110461 MESH:D002311 C14.280.195.160/302045|C14.280.238.070/302045|C16.320.488.750/302045 C14.280.195.160|C14.280.238.070|C16.320.488.750 CARDIOMYOPATHY, DILATED, X-LINKED|CMD3B|XLCM Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM OMIM:212112 DO:DOID:0111584 MESH:D002311|MESH:D007006 C14.280.195.160/212112|C14.280.238.070/212112|C16.320.488.750/212112|C19.391.482/212112 C14.280.195.160|C14.280.238.070|C16.320.488.750|C19.391.482 CARDIOGENITAL SYNDROME|CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM|CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE|CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE|GENITAL ANOMALY WITH CARDIOMYOPATHY|MALOUF SYNDROME|NAJJAR SYNDROME Cardiovascular disease|Endocrine system disease|Genetic disease (inborn) Cardiomyopathy, Dilated, with Left Ventricular Noncompaction MESH:C565277 MESH:D002311|MESH:D056830 C14.240.400.660/C565277|C14.280.195.160/C565277|C14.280.238.070/C565277|C14.280.238.281.500/C565277|C14.280.400.660/C565277|C16.131.077.477/C565277|C16.131.240.400.655/C565277|C16.320.322.370/C565277|C16.320.488.750/C565277 C14.240.400.660|C14.280.195.160|C14.280.238.070|C14.280.238.281.500|C14.280.400.660|C16.131.077.477|C16.131.240.400.655|C16.320.322.370|C16.320.488.750 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) Cardiomyopathy dilated with woolly hair and keratoderma MESH:C535581 DO:DOID:0090128|OMIM:605676 MESH:D002311|MESH:D006201|MESH:D007645 C14.280.195.160/C535581|C14.280.238.070/C535581|C16.320.488.750/C535581|C16.320.850.475/C535581|C17.800.329/C535581|C17.800.428.435/C535581|C17.800.827.475/C535581 C14.280.195.160|C14.280.238.070|C16.320.488.750|C16.320.850.475|C17.800.329|C17.800.428.435|C17.800.827.475 Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma|Carvajal syndrome|DCWHK|Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy|Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair Cardiovascular disease|Genetic disease (inborn)|Skin disease CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS OMIM:615821 MESH:D000848|MESH:D002311|MESH:D006201|MESH:D007645 C07.650.800.100/615821|C07.793.700.100/615821|C14.280.195.160/615821|C14.280.238.070/615821|C16.131.850.800.100/615821|C16.320.488.750/615821|C16.320.850.475/615821|C17.800.329/615821|C17.800.428.435/615821|C17.800.827.475/615821 C07.650.800.100|C07.793.700.100|C14.280.195.160|C14.280.238.070|C16.131.850.800.100|C16.320.488.750|C16.320.850.475|C17.800.329|C17.800.428.435|C17.800.827.475 DCWHKTA Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Mouth disease|Skin disease Cardiomyopathy, Familial Hypertrophic, 1 MESH:C566005 OMIM:192600 MESH:D024741 C14.280.238.100.500/C566005|C14.280.484.048.750.070.160.500/C566005|C16.320.160/C566005 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 ASH|ASYMMETRIC SEPTAL HYPERTROPHY|CMH|CMH1|HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC|VENTRICULAR HYPERTROPHY, HEREDITARY Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Hypertrophic, 10 MESH:C563865 OMIM:608758 MESH:D024741 C14.280.238.100.500/C563865|C14.280.484.048.750.070.160.500/C563865|C16.320.160/C563865 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2|CMH10 Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Hypertrophic, 11 MESH:C567419 OMIM:612098 MESH:D024741 C14.280.238.100.500/C567419|C14.280.484.048.750.070.160.500/C567419|C16.320.160/C567419 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH11 Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 OMIM:612124 DO:DOID:0110318 MESH:D024741 C14.280.238.100.500/612124|C14.280.484.048.750.070.160.500/612124|C16.320.160/612124 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH12 Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Hypertrophic, 13 MESH:C567686 OMIM:613243 MESH:D024741 C14.280.238.100.500/C567686|C14.280.484.048.750.070.160.500/C567686|C16.320.160/C567686 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH13 Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Hypertrophic, 14 MESH:C567684 OMIM:613251 MESH:D024741 C14.280.238.100.500/C567684|C14.280.484.048.750.070.160.500/C567684|C16.320.160/C567684 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH14 Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Hypertrophic, 15 MESH:C567681 OMIM:613255 MESH:D024741 C14.280.238.100.500/C567681|C14.280.484.048.750.070.160.500/C567681|C16.320.160/C567681 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH15 Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 OMIM:613838 DO:DOID:0110322 MESH:D024741 C14.280.238.100.500/613838|C14.280.484.048.750.070.160.500/613838|C16.320.160/613838 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH16 Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 OMIM:613873 DO:DOID:0110323 MESH:D024741 C14.280.238.100.500/613873|C14.280.484.048.750.070.160.500/613873|C16.320.160/613873 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH17 Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 OMIM:613874 DO:DOID:0110324 MESH:D024741 C14.280.238.100.500/613874|C14.280.484.048.750.070.160.500/613874|C16.320.160/613874 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH18 Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Hypertrophic, 2 MESH:C566171 OMIM:115195 MESH:D024741 C14.280.238.100.500/C566171|C14.280.484.048.750.070.160.500/C566171|C16.320.160/C566171 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH2 Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 OMIM:613876 DO:DOID:0110326 MESH:D024741 C14.280.238.100.500/613876|C14.280.484.048.750.070.160.500/613876|C16.320.160/613876 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH20 Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 OMIM:617047 DO:DOID:0110327 MESH:D024741 C14.280.238.100.500/617047|C14.280.484.048.750.070.160.500/617047|C16.320.160/617047 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 15, INCLUDED|ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 15, INCLUDED|ARVC15, INCLUDED|ARVD15, INCLUDED|CARDIOMYOPATHY, DILATED, 1PP, INCLUDED|CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5, INCLUDED|CMD1PP, INCLUDED|CMH26|RCM5, INCLUDED Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Hypertrophic, 3 MESH:C566170 OMIM:115196 MESH:D024741 C14.280.238.100.500/C566170|C14.280.484.048.750.070.160.500/C566170|C16.320.160/C566170 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH3 Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Hypertrophic, 4 MESH:C566169 OMIM:115197 MESH:D024741 C14.280.238.100.500/C566169|C14.280.484.048.750.070.160.500/C566169|C16.320.160/C566169 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4;CMH4 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO,|INCLUDED Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Hypertrophic, 6 MESH:C563436 OMIM:600858 MESH:D024741 C14.280.238.100.500/C563436|C14.280.484.048.750.070.160.500/C563436|C16.320.160/C563436 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH6 Cardiovascular disease|Genetic disease (inborn) CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 OMIM:613690 DO:DOID:0110313 MESH:D024741 C14.280.238.100.500/613690|C14.280.484.048.750.070.160.500/613690|C16.320.160/613690 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH7 Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Hypertrophic, 8 MESH:C563866 OMIM:608751 MESH:D024741 C14.280.238.100.500/C563866|C14.280.484.048.750.070.160.500/C563866|C16.320.160/C563866 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1|CMH8 Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Hypertrophic, 9 MESH:C566044 OMIM:613765 MESH:D024741 C14.280.238.100.500/C566044|C14.280.484.048.750.070.160.500/C566044|C16.320.160/C566044 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 CMH9 Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy, Familial Restrictive, 1 MESH:C566168 OMIM:115210 MESH:D002313 C14.280.238.160/C566168 C14.280.238.160 RCM|RCM1 Cardiovascular disease Cardiomyopathy, Familial Restrictive, 2 MESH:C566512 OMIM:609578 MESH:D002313 C14.280.238.160/C566512 C14.280.238.160 RCM2 Cardiovascular disease Cardiomyopathy, Familial Restrictive, 3 MESH:C567316 OMIM:612422 MESH:D002313 C14.280.238.160/C567316 C14.280.238.160 Rcm3 Cardiovascular disease Cardiomyopathy, fatal fetal, due to myocardial calcification MESH:C543241 MESH:D002114|MESH:D005313|MESH:D009202 C12.050.703.223/C543241|C14.280.238/C543241|C18.452.174.130/C543241|C23.550.260.585/C543241 C12.050.703.223|C14.280.238|C18.452.174.130|C23.550.260.585 Myocardial calcifications resulting in intrauterine fetal death Cardiovascular disease|Metabolic disease|Pathology (process)|Pregnancy complication Cardiomyopathy, Hypertrophic MESH:D002312 DO:DOID:11984 A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY). MESH:D001020|MESH:D009202 C14.280.238.100|C14.280.484.048.750.070.160 C14.280.238|C14.280.484.048.750.070 Cardiomyopathies, Hypertrophic|Cardiomyopathies, Hypertrophic Obstructive|Cardiomyopathy, Hypertrophic Obstructive|Hypertrophic Cardiomyopathies|Hypertrophic Cardiomyopathy|Hypertrophic Obstructive Cardiomyopathies|Hypertrophic Obstructive Cardiomyopathy|Obstructive Cardiomyopathies, Hypertrophic|Obstructive Cardiomyopathy, Hypertrophic Cardiovascular disease Cardiomyopathy, Hypertrophic, Familial MESH:D024741 DO:DOID:0080326 An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN. MESH:D002312|MESH:D030342 C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160 C14.280.238.100|C14.280.484.048.750.070.160|C16.320 Asymmetric Septal Hypertrophy, Familial|Cardiomyopathies, Familial Hypertrophic|Cardiomyopathy, Familial Hypertrophic|Familial Hypertrophic Cardiomyopathies|Familial Hypertrophic Cardiomyopathy|Familial Ventricular Hypertrophies|Familial Ventricular Hypertrophy|Hereditary Ventricular Hypertrophies|Hereditary Ventricular Hypertrophy|Hypertrophic Cardiomyopathies, Familial|Hypertrophic Cardiomyopathy, Familial|Hypertrophic Subaortic Stenosis, Idiopathic|Hypertrophies, Hereditary Ventricular|Hypertrophy, Familial Ventricular|Hypertrophy, Hereditary Ventricular|Obstructive Asymmetric Septal Hypertrophy|Ventricular Hypertrophies, Familial|Ventricular Hypertrophies, Hereditary|Ventricular Hypertrophy, Familial|Ventricular Hypertrophy, Hereditary Cardiovascular disease|Genetic disease (inborn) Cardiomyopathy hypogonadism collagenoma syndrome MESH:C535582 MESH:D003095|MESH:D007006|MESH:D009202|MESH:D012878 C04.588.805/C535582|C14.280.238/C535582|C17.300.200/C535582|C17.800.882/C535582|C19.391.482/C535582 C04.588.805|C14.280.238|C17.300.200|C17.800.882|C19.391.482 Cardiomyopathy-Hypogonadism-Collagenoma Syndrome Cancer|Cardiovascular disease|Connective tissue disease|Endocrine system disease|Skin disease Cardiomyopathy, infantile histiocytoid MESH:C535584 MESH:D009202 C14.280.238/C535584 C14.280.238 Cardiomyopathy, Focal Lipid|Cardiomyopathy, Infantile Xanthomatous|Cardiomyopathy, Oncocytic|Foamy myocardial transformation of infancy|Focal lipid cardiomyopathy|Infantile xanthomatous cardiomyopathy|Oncocytic cardiomyopathy Cardiovascular disease Cardiomyopathy, Restrictive MESH:D002313 DO:DOID:397 A form of CARDIAC MUSCLE disease in which the ventricular walls are excessively rigid, impeding ventricular filling. It is marked by reduced diastolic volume of either or both ventricles but normal or nearly normal systolic function. It may be idiopathic or associated with other diseases (ENDOMYOCARDIAL FIBROSIS or AMYLOIDOSIS) causing interstitial fibrosis. MESH:D009202 C14.280.238.160 C14.280.238 Cardiomyopathies, Restrictive|Familial Restrictive Cardiomyopathy|Restrictive Cardiomyopathies|Restrictive Cardiomyopathy Cardiovascular disease Cardiomyopathy, Right Ventricular Dilated MESH:C566255 MESH:D002311 C14.280.195.160/C566255|C14.280.238.070/C566255|C16.320.488.750/C566255 C14.280.195.160|C14.280.238.070|C16.320.488.750 Cardiovascular disease|Genetic disease (inborn) Cardioneuromyopathy with Hyaline Masses and Nemaline Rods MESH:C564655 MESH:D009202|MESH:D015417|MESH:D017696 C05.651.575.290/C564655|C10.500.300/C564655|C10.574.500.495/C564655|C10.668.491.550.290/C564655|C10.668.829.800.300/C564655|C14.280.238/C564655|C16.131.666.300/C564655|C16.320.400.375/C564655 C05.651.575.290|C10.500.300|C10.574.500.495|C10.668.491.550.290|C10.668.829.800.300|C14.280.238|C16.131.666.300|C16.320.400.375 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Cardio-Renal Syndrome MESH:D059347 Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY). MESH:D006333|MESH:D051437 C12.050.351.968.419.780.400|C12.200.777.419.780.400|C12.950.419.780.400|C14.280.434.156 C12.050.351.968.419.780|C12.200.777.419.780|C12.950.419.780|C14.280.434 Cardiorenal Syndrome|Cardio Renal Syndrome|Cardiorenal Syndromes|Cardio-Renal Syndromes|Renocardiac Syndrome|Reno Cardiac Syndrome|Reno-Cardiac Syndrome|Renocardiac Syndromes|Reno-Cardiac Syndromes|Syndrome, Cardiorenal|Syndrome, Cardio-Renal|Syndrome, Renocardiac|Syndrome, Reno-Cardiac|Syndromes, Cardiorenal|Syndromes, Cardio-Renal|Syndromes, Renocardiac|Syndromes, Reno-Cardiac Cardiovascular disease|Urogenital disease (female)|Urogenital disease (male) Cardiotoxicity MESH:D066126 Damage to the HEART or its function secondary to exposure to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION. MESH:D006331|MESH:D010335|MESH:D011832|MESH:D064420 C14.280.260|C23.550.161|C25.100.389|C26.733.266 C14.280|C23.550|C25.100|C26.733 Cardiac Toxicities|Cardiac Toxicity|Cardiotoxicities|Toxicity, Cardiac Cardiovascular disease|Pathology (process)|Wounds and injuries Cardiovascular Abnormalities MESH:D018376 Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS. MESH:D000013|MESH:D002318 C14.240|C16.131.240 C14|C16.131 Abnormalities, Cardiovascular|Abnormality, Cardiovascular|Cardiovascular Abnormality Cardiovascular disease|Congenital abnormality Cardiovascular Diseases MESH:D002318 DO:DOID:1287 Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM. MESH:C C14 C Adverse Cardiac Event|Adverse Cardiac Events|Cardiac Event|Cardiac Event, Adverse|Cardiac Events|Cardiac Events, Adverse|Cardiovascular Disease|Disease, Cardiovascular|Event, Cardiac|Major Adverse Cardiac Events Cardiovascular disease Cardiovascular Infections MESH:D053821 Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infections. MESH:D002318|MESH:D007239 C01.190|C14.260 C01|C14 Cardiovascular Infection|Infection, Cardiovascular|Infections, Cardiovascular Cardiovascular disease Cardiovirus Infections MESH:D018188 Infections caused by viruses of the genus CARDIOVIRUS, family PICORNAVIRIDAE. MESH:D010850 C01.925.782.687.150 C01.925.782.687 Cardiovirus Infection|Infection, Cardiovirus|Infections, Cardiovirus Viral disease Car Factor Deficiency MESH:C566176 MESH:D001778 C15.378.100/C566176 C15.378.100 Car. Factor Deficiency Blood disease Carnevale Hernandez Castillo syndrome MESH:C535585 MESH:D006228 C05.390.408/C535585|C05.660.585.988.425/C535585|C16.131.621.585.988.500/C535585 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Triphalyngeal thumbs and brachyectrodactyly Congenital abnormality|Musculoskeletal disease Carnevale syndrome MESH:C535586 OMIM:265050 MESH:D001763|MESH:D003456|MESH:D006618|MESH:D013285 C05.660.297.500/C535586|C10.292.562.887/C535586|C11.338.204/C535586|C11.590.810/C535586|C12.100.500.829.258/C535586|C12.200.294.829.258/C535586|C12.200.706.258/C535586|C12.800.258/C535586|C16.131.621.297.500/C535586|C16.131.621.449/C535586|C16.131.939.258/C535586|C19.391.829.258/C535586 C05.660.297.500|C10.292.562.887|C11.338.204|C11.590.810|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C16.131.621.297.500|C16.131.621.449|C16.131.939.258|C19.391.829.258 3MC2|3MC SYNDROME 2|Carnevale Krajewska Fischetto syndrome|CARNEVALE SYNDROME, FORMERLY|Oculo-skeletal-abdominal syndrome|OSA SYNDROME|Ptosis of eyelids with diastasis recti and hip dysplasia Congenital abnormality|Endocrine system disease|Eye disease|Musculoskeletal disease|Nervous system disease|Urogenital disease (male) Carney Complex MESH:D056733 DO:DOID:0050471|OMIM:160980|OMIM:605244 Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pigmentation of the skin), and endocrinopathy and its associated endocrine tumors. The cardiac myxomas may lead to SUDDEN CARDIAC DEATH and other complications in Carney complex patients. The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). A second locus is at chromosome 2p16 (type 2). MESH:D000015|MESH:D006338|MESH:D009232|MESH:D012868 C04.557.450.565.550.312|C04.588.894.309.500|C14.280.459.500|C16.131.077.229|C16.131.831.108 C04.557.450.565.550|C04.588.894.309|C14.280.459|C16.131.077|C16.131.831 CAR|Carney Complex, Type 1|Carney Complex, Type 2|Carney Complex, Type I|Carney Complex, Type II|Carney Myxoma Endocrine Complex|Carney Myxoma-Endocrine Complex|CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2|Carney Myxoma Endocrine Complex, Type II|Carney Myxoma-Endocrine Complex, Type II|Carney Syndrome|CNC1|CNC2|Complex, Carney|Complex, Carney Myxoma-Endocrine|LAMB - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome|LAMB Syndrome|LAMB Syndromes|Myxoma-Endocrine Complex, Carney|Myxoma, Spotty Pigmentation, and Endocrine Overactivity|NAME Syndrome|NAME Syndromes|Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome|Syndrome, Carney|Syndrome, LAMB|Syndromes, LAMB Cancer|Cardiovascular disease|Congenital abnormality Carney Complex Variant MESH:C563845 OMIM:608837 MESH:D056733 C04.557.450.565.550.312/C563845|C04.588.894.309.500/C563845|C14.280.459.500/C563845|C16.131.077.229/C563845|C16.131.831.108/C563845 C04.557.450.565.550.312|C04.588.894.309.500|C14.280.459.500|C16.131.077.229|C16.131.831.108 Cancer|Cardiovascular disease|Congenital abnormality Carney-Stratakis Syndrome MESH:C564650 DO:DOID:0080533|OMIM:606864 MESH:D010235|MESH:D046152 C04.557.450.565.370/C564650|C04.557.465.625.650.700/C564650|C04.557.580.625.650.700/C564650|C06.301.371.308/C564650|C06.405.249.308/C564650 C04.557.450.565.370|C04.557.465.625.650.700|C04.557.580.625.650.700|C06.301.371.308|C06.405.249.308 CARNEY-STRATAKIS SYNDROME|Paraganglioma and Gastric Stromal Sarcoma|Paraganglioma and Gastrointestinal Stromal Tumor Cancer|Digestive system disease Carney Triad MESH:C565803 MESH:D002812|MESH:D007890|MESH:D008175|MESH:D010236|MESH:D013274 C04.557.450.565.265/C565803|C04.557.450.590.455/C565803|C04.557.450.795.455/C565803|C04.557.465.625.650.700.705/C565803|C04.557.580.625.650.700.705/C565803|C04.588.274.476.767/C565803|C04.588.894.797.520/C565803|C06.301.371.767/C565803|C06.405.249.767/C565803|C06.405.748.789/C565803|C08.381.540/C565803|C08.785.520/C565803 C04.557.450.565.265|C04.557.450.590.455|C04.557.450.795.455|C04.557.465.625.650.700.705|C04.557.580.625.650.700.705|C04.588.274.476.767|C04.588.894.797.520|C06.301.371.767|C06.405.249.767|C06.405.748.789|C08.381.540|C08.785.520 Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma Cancer|Digestive system disease|Respiratory tract disease Carnitine Acetyltransferase Deficiency MESH:C563249 MESH:D001259|MESH:D003221|MESH:D008661|MESH:D009123|MESH:D015840 C10.292.562.700/C563249|C10.597.350.090/C563249|C10.597.606.337/C563249|C10.597.613.575/C563249|C11.590.436/C563249|C16.320.565/C563249|C18.452.648/C563249|C23.888.592.350.090/C563249|C23.888.592.604.339/C563249|C23.888.592.608.575/C563249 C10.292.562.700|C10.597.350.090|C10.597.606.337|C10.597.613.575|C11.590.436|C16.320.565|C18.452.648|C23.888.592.350.090|C23.888.592.604.339|C23.888.592.608.575 Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Carnitine-Acylcarnitine Translocase Deficiency MESH:C562812 DO:DOID:0111585|OMIM:212138 MESH:D008052 C16.320.565.398/C562812|C18.452.584.563/C562812|C18.452.648.398/C562812 C16.320.565.398|C18.452.584.563|C18.452.648.398 CACTD|CACT Deficiency|Carnitine-Acylcarnitine Carrier Deficiency|Carnitine Acylcarnitine Translocase Deficiency Genetic disease (inborn)|Metabolic disease Carnitine palmitoyl transferase 1A deficiency MESH:C535588 OMIM:255120 MESH:D007003|MESH:D008052 C16.320.565.398/C535588|C18.452.394.984/C535588|C18.452.584.563/C535588|C18.452.648.398/C535588 C16.320.565.398|C18.452.394.984|C18.452.584.563|C18.452.648.398 Carnitine palmitoyltransferase 1 deficiency|Carnitine Palmitoyltransferase IA Deficiency|Carnitine Palmitoyltransferase I Deficiency|CPT 1A Deficiency|CPT Deficiency, Hepatic, Type I|CPT I Deficiency|Hepatic carnitine palmitoyltransferase 1 deficiency|Liver Form of Carnitine Palmitoyltransferase Deficiency Genetic disease (inborn)|Metabolic disease Carnitine palmitoyl transferase 2 deficiency MESH:C535589 DO:DOID:0060235 MESH:D008661 C16.320.565/C535589|C18.452.648/C535589 C16.320.565|C18.452.648 Carnitine Palmitoyltransferase 2 Deficiency|Carnitine palmitoyltransferase deficiency type 2|Carnitine Palmitoyltransferase Ii Deficiency|Cpt2 Deficiency|Cpt Ii Deficiency|Muscle form of carnitine palmitoyltransferase deficiency Genetic disease (inborn)|Metabolic disease Carnitine Palmitoyltransferase II Deficiency, Infantile MESH:C563462 OMIM:600649 MESH:D007003|MESH:D008052|MESH:D008107 C06.552/C563462|C16.320.565.398/C563462|C18.452.394.984/C563462|C18.452.584.563/C563462|C18.452.648.398/C563462 C06.552|C16.320.565.398|C18.452.394.984|C18.452.584.563|C18.452.648.398 Carnitine Palmitoyltransferase II Deficiency, Hepatocardiomuscular|Carnitine Palmitoyltransferase II Deficiency with Hypoketotic Hypoglycemia|CPT2 Deficiency, Infantile|CPT II Deficiency, Hepatic Digestive system disease|Genetic disease (inborn)|Metabolic disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset MESH:C563461 OMIM:255110 MESH:D008052|MESH:D009135|MESH:D028361 C05.651/C563461|C10.668.491/C563461|C16.320.565.398/C563461|C18.452.584.563/C563461|C18.452.648.398/C563461|C18.452.660/C563461 C05.651|C10.668.491|C16.320.565.398|C18.452.584.563|C18.452.648.398|C18.452.660 Carnitine Palmitoyltransferase II Deficiency, Adult-Onset|Carnitine Palmitoyltransferase II Deficiency, Myopathic|CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED|CPT2 Deficiency, Late-Onset|CPT II Deficiency, Myopathic Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal MESH:C563463 OMIM:608836 MESH:D007232|MESH:D028361 C16.614/C563463|C18.452.660/C563463 C16.614|C18.452.660 Carnitine Palmitoyltransferase II Deficiency, Antenatal|Carnitine Palmitoyltransferase II Deficiency, Neonatal|CPT2 Deficiency, Lethal Neonatal|CPT II Deficiency, Lethal Neonatal Infant-newborn disease|Metabolic disease Caroli Disease MESH:D016767 DO:DOID:0050876 Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease. MESH:D000072661|MESH:D015529 C06.130.120.127.500|C06.198.184.500|C16.131.077.245.250|C16.131.314.184.500|C16.320.184.250 C06.130.120.127|C06.198.184|C16.131.077.245|C16.131.314.184|C16.320.184 Caroli's Disease|Carolis Disease|Caroli's Syndrome|Carolis Syndrome|Caroli Syndrome|Disease, Caroli|Disease, Caroli's|Syndrome, Caroli's Congenital abnormality|Digestive system disease|Genetic disease (inborn) Caroli disease isolated MESH:C531647 MESH:D016767 C06.130.120.127.500/C531647|C06.198.184.500/C531647|C16.131.077.245.250/C531647|C16.131.314.184.500/C531647|C16.320.184.250/C531647 C06.130.120.127.500|C06.198.184.500|C16.131.077.245.250|C16.131.314.184.500|C16.320.184.250 Caroli Disease, Isolated|Congenital polycystic dilatation of intrahepatic bile ducts|Cystic dilatation of the intrahepatic biliary tree Congenital abnormality|Digestive system disease|Genetic disease (inborn) Carotid Artery Diseases MESH:D002340 DO:DOID:3407 Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology. MESH:D002561 C10.228.140.300.200|C14.907.253.123 C10.228.140.300|C14.907.253 Arterial Disease, Carotid|Arterial Diseases, Carotid|Arterial Diseases, Common Carotid|Arterial Diseases, External Carotid|Arterial Diseases, Internal Carotid|Artery Disease, Carotid|Artery Diseases, Carotid|Artery Disorder, Carotid|Artery Disorders, Carotid|Atherosclerotic Disease, Carotid|Atherosclerotic Diseases, Carotid|Carotid Arterial Disease|Carotid Arterial Diseases|Carotid Artery Disease|Carotid Artery Disorder|Carotid Artery Disorders|Carotid Atheroscleroses|Carotid Atherosclerosis|Carotid Atherosclerotic Disease|Carotid Atherosclerotic Diseases|Common Carotid Artery Disease|Common Carotid Artery Diseases|Disorders, Carotid Artery|External Carotid Artery Diseases|Internal Carotid Artery Disease|Internal Carotid Artery Diseases Cardiovascular disease|Nervous system disease Carotid Artery Injuries MESH:D020212 Damages to the CAROTID ARTERIES caused either by blunt force or penetrating trauma, such as CRANIOCEREBRAL TRAUMA; THORACIC INJURIES; and NECK INJURIES. Damaged carotid arteries can lead to CAROTID ARTERY THROMBOSIS; CAROTID-CAVERNOUS SINUS FISTULA; pseudoaneurysm formation; and INTERNAL CAROTID ARTERY DISSECTION. (From Am J Forensic Med Pathol 1997, 18:251; J Trauma 1994, 37:473) MESH:D002340|MESH:D020214 C10.228.140.300.200.345|C10.228.140.300.350.500|C10.900.250.300|C14.907.253.123.345|C14.907.253.535.500|C26.915.200.200 C10.228.140.300.200|C10.228.140.300.350|C10.900.250|C14.907.253.123|C14.907.253.535|C26.915.200 Artery Injuries, Carotid|Artery Injury, Carotid|Artery Trauma, Carotid|Carotid Arteriopathies, Traumatic|Carotid Arteriopathy, Traumatic|Carotid Artery Injury|Carotid Artery Trauma|Carotid False Aneurysm|Carotid False Aneurysms|Carotid Pseudoaneurysm|False Aneurysm, Carotid|Injuries, Carotid Artery|Injury, Carotid Artery|Pseudoaneurysm, Carotid|Trauma, Carotid Artery|Traumatic Carotid Arteriopathy Cardiovascular disease|Nervous system disease|Wounds and injuries Carotid Artery, Internal, Dissection MESH:D020215 The splitting of the vessel wall in one or both (left and right) internal carotid arteries (CAROTID ARTERY, INTERNAL). Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation. MESH:D000094665|MESH:D020212 C10.228.140.300.200.345.300|C10.228.140.300.350.500.300|C10.900.250.300.300|C14.907.055.448.500|C14.907.253.123.345.300|C14.907.253.535.500.300|C26.915.200.200.500 C10.228.140.300.200.345|C10.228.140.300.350.500|C10.900.250.300|C14.907.055.448|C14.907.253.123.345|C14.907.253.535.500|C26.915.200.200 Carotid Artery Dissection, Internal|Dissection, Internal Carotid Artery|Internal Carotid Artery Dissection Cardiovascular disease|Nervous system disease|Wounds and injuries Carotid Artery Thrombosis MESH:D002341 DO:DOID:3410 Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX. MESH:D002340|MESH:D002542 C10.228.140.300.200.355|C14.907.253.123.355|C14.907.253.566.206|C14.907.355.590.213.206 C10.228.140.300.200|C14.907.253.123|C14.907.253.566|C14.907.355.590.213 Carotid Artery Thromboses|Carotid Thrombosis|Common Carotid Artery Thrombosis|External Carotid Artery Thrombosis|Internal Carotid Artery Thrombosis|Thrombosis, Carotid|Thrombosis, Carotid Artery|Thrombosis, Common Carotid Artery|Thrombosis, External Carotid Artery|Thrombosis, Internal Carotid Artery Cardiovascular disease|Nervous system disease Carotid Body Tumor MESH:D002345 Benign paraganglioma at the bifurcation of the COMMON CAROTID ARTERIES. It can encroach on the parapharyngeal space and produce dysphagia, pain, and cranial nerve palsies. MESH:D010236 C04.557.465.625.650.700.705.220|C04.557.580.625.650.700.705.220 C04.557.465.625.650.700.705|C04.557.580.625.650.700.705 Carotid Body Paraganglioma|Carotid Body Paragangliomas|Carotid Body Tumors|Paraganglioma, Carotid Body|Paragangliomas, Carotid Body|Tumor, Carotid Body|Tumors, Carotid Body Cancer Carotid-Cavernous Sinus Fistula MESH:D020216 An acquired or spontaneous abnormality in which there is communication between CAVERNOUS SINUS, a venous structure, and the CAROTID ARTERIES. It is often associated with HEAD TRAUMA, specifically basilar skull fractures (SKULL FRACTURE, BASILAR). Clinical signs often include VISION DISORDERS and INTRACRANIAL HYPERTENSION. MESH:D001164|MESH:D002340|MESH:D020212 C10.228.140.300.200.480|C10.228.140.300.350.500.350|C10.900.250.300.400|C14.240.850.750.147.500|C14.240.850.984.750.500|C14.907.150.125.500|C14.907.253.123.357|C14.907.253.535.500.350|C14.907.933.555.500|C16.131.240.850.750.125.500|C23.300.575.950.250.500|C26.915.200.200.550 C10.228.140.300.200|C10.228.140.300.350.500|C10.900.250.300|C14.240.850.750.147|C14.240.850.984.750|C14.907.150.125|C14.907.253.123|C14.907.253.535.500|C14.907.933.555|C16.131.240.850.750.125|C23.300.575.950.250|C26.915.200.200 Carotid Artery Cavernous Sinus Fistula|Carotid Artery-Cavernous Sinus Fistula|Carotid Cavernous Fistula|Carotid Cavernous Fistulas|Carotid Cavernous Sinus Fistula|Carotid-Cavernous Sinus Fistulas|Cavernous Fistula, Carotid|C-C Fistula|C-C Fistulas|Fistula, Carotid Artery Cavernous Sinus|Fistula, Carotid Artery-Cavernous Sinus|Fistula, Carotid Cavernous|Fistula, Carotid-Cavernous Sinus|Fistula, C-C|Traumatic Carotid Cavernous Sinus Fistula|Traumatic Carotid-Cavernous Sinus Fistula Cardiovascular disease|Congenital abnormality|Nervous system disease|Pathology (anatomical condition)|Wounds and injuries Carotid Intimal Medial Thickness 1 MESH:C563733 OMIM:609338 MESH:D050197 C14.907.137.126.307/C563733 C14.907.137.126.307 CIMT1|Intimal Medial Thickness of Internal Carotid Artery Cardiovascular disease CAROTID INTIMAL MEDIAL THICKNESS 2 OMIM:608447 MESH:D014652 C14.907/608447 C14.907 CAROTID INTIMAL MEDIAL THICKNESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 12|CIMT2 Cardiovascular disease Carotid Stenosis MESH:D016893 DO:DOID:13001 Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3) MESH:D001157|MESH:D002340 C10.228.140.300.200.360|C14.907.137.230|C14.907.253.123.360 C10.228.140.300.200|C14.907.137|C14.907.253.123 Artery Narrowing, Carotid|Artery Narrowings, Carotid|Artery Plaque, Carotid|Artery Plaques, Carotid|Artery Stenoses, Carotid|Artery Stenosis, Carotid|Carotid Artery Narrowing|Carotid Artery Narrowings|Carotid Artery Plaque|Carotid Artery Plaques|Carotid Artery Stenoses|Carotid Artery Stenosis|Carotid Artery Ulcerating Plaque|Carotid Stenoses|Carotid Ulcer|Carotid Ulcers|Common Carotid Artery Stenosis|External Carotid Artery Stenosis|Internal Carotid Artery Stenosis|Narrowing, Carotid Artery|Narrowings, Carotid Artery|Plaque, Carotid Artery|Plaques, Carotid Artery|Plaque, Ulcerating, Carotid Artery|Stenoses, Carotid|Stenoses, Carotid Artery|Stenosis, Carotid|Stenosis, Carotid Artery|Stenosis, Common Carotid Artery|Stenosis, External Carotid Artery|Ulcerating Plaque, Carotid Artery|Ulcer, Carotid|Ulcers, Carotid Cardiovascular disease|Nervous system disease Carpal Tunnel Syndrome MESH:D002349 DO:DOID:12169|OMIM:115430 Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45) MESH:D009408|MESH:D012090|MESH:D020423 C10.668.829.500.500.200|C10.668.829.550.200|C26.844.150.206 C10.668.829.500.500|C10.668.829.550|C26.844.150 Amyotrophy, Thenar, Of Carpal Origin|AMYOTROPHY, THENAR, OF CARPAL ORIGIN, INCLUDED|CARPAL TUNNEL SYNDROME 1|CARPAL TUNNEL SYNDROME, INCLUDED|Carpal Tunnel Syndromes|Compression Neuropathy, Carpal Tunnel|CTS1|CTS, INCLUDED|Entrapment Neuropathy, Carpal Tunnel|Median Neuropathy, Carpal Tunnel|Syndrome, Carpal Tunnel|Syndromes, Carpal Tunnel Nervous system disease|Wounds and injuries Carrington syndrome MESH:C535590 MESH:D011657 C08.381.750/C535590|C15.378.553.231.549.750/C535590 C08.381.750|C15.378.553.231.549.750 Carrington's Disease|Carrington's pulmonary eosinophilia|Chronic eosinophilic pneumonia (CEP)|Chronic idiopathic eosinophilic pneumonia|Eosinophilic idiopathic chronic pneumopathy Blood disease|Respiratory tract disease Cartilage Diseases MESH:D002357 DO:DOID:1222|DO:DOID:2557 Pathological processes involving the chondral tissue (CARTILAGE). MESH:D003240|MESH:D009140 C05.182|C17.300.182 C05|C17.300 Cartilage Disease|Chondromalacia|Chondromalacias Connective tissue disease|Musculoskeletal disease Cartilage-hair hypoplasia MESH:C535916 DO:DOID:14773|OMIM:250250 MESH:D000081207|MESH:D006627|MESH:D010009 C05.116.099.708/C535916|C06.198.439/C535916|C06.405.469.158.701.439/C535916|C16.131.314.439/C535916|C16.320.728/C535916|C16.320.798/C535916|C20.673.795/C535916 C05.116.099.708|C06.198.439|C06.405.469.158.701.439|C16.131.314.439|C16.320.728|C16.320.798|C20.673.795 Cartilage Hair Syndrome|CHH|McKusick Metaphyseal Chondrodysplasia Syndrome|Metaphyseal chondrodysplasia, McKusick type|Metaphyseal Chondrodysplasia, Recessive Type Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease Cartilage hair hypoplasia like syndrome MESH:C535915 MESH:D000081207|MESH:D006627|MESH:D010009 C05.116.099.708/C535915|C06.198.439/C535915|C06.405.469.158.701.439/C535915|C16.131.314.439/C535915|C16.320.728/C535915|C16.320.798/C535915|C20.673.795/C535915 C05.116.099.708|C06.198.439|C06.405.469.158.701.439|C16.131.314.439|C16.320.728|C16.320.798|C20.673.795 Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease Cartwright Nelson Fryns syndrome MESH:C535917 MESH:D005317|MESH:D008607|MESH:D009264|MESH:D017880 C05.660.585/C535917|C10.597.606.360/C535917|C12.050.703.277.370/C535917|C16.131.621.585/C535917|C16.300.390/C535917|C23.300.820/C535917|C23.550.393.450/C535917|C23.888.592.604.646/C535917|F03.625.539/C535917 C05.660.585|C10.597.606.360|C12.050.703.277.370|C16.131.621.585|C16.300.390|C23.300.820|C23.550.393.450|C23.888.592.604.646|F03.625.539 Congenital abnormality|Fetal disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Pregnancy complication|Signs and symptoms Castleman Disease MESH:D005871 DO:DOID:0111157 Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A. MESH:D008232 C15.604.515.245|C20.683.515.250 C15.604.515|C20.683.515 Angiofollicular Lymph Hyperplasia|Angiofollicular Lymph Hyperplasias|Angiofollicular Lymph Node Hyperplasia|Angiofollicular Lymphoid Hyperplasia|Angiofollicular Lymphoid Hyperplasias|Castleman's Disease|Castlemans Disease|Castleman's Tumor|Castlemans Tumor|Castleman Tumor|Disease, Castlemans|Giant Lymph Node Hyperplasia|Hyperplasia, Angiofollicular Lymph|Hyperplasia, Angiofollicular Lymphoid|Hyperplasia, Giant Lymph Node|Lymph Hyperplasia, Angiofollicular|Lymph Node Hyperplasia, Giant|Lymphoid Hyperplasia, Angiofollicular|Tumor, Castleman's Immune system disease|Lymphatic disease Catalepsy MESH:D002375 A condition characterized by inactivity, decreased responsiveness to stimuli, and a tendency to maintain an immobile posture. The limbs tend to remain in whatever position they are placed (waxy flexibility). Catalepsy may be associated with PSYCHOTIC DISORDERS (e.g., SCHIZOPHRENIA, CATATONIC), nervous system drug toxicity, and other conditions. MESH:D020820 C10.597.350.200|C23.888.592.350.200 C10.597.350|C23.888.592.350 Anochlesia|Anochlesias|Catalepsies|Cerea Flexibilitas|Flexibilitas, Cerea|Flexibilities, Waxy|Flexibility, Waxy|Waxy Flexibilities|Waxy Flexibility Nervous system disease|Signs and symptoms Catamenial pneumothorax MESH:C538279 MESH:D011030 C08.528.778/C538279 C08.528.778 Respiratory tract disease Cataplexy MESH:D002385 A condition characterized by transient weakness or paralysis of somatic musculature triggered by an emotional stimulus or physical exertion. Cataplexy is frequently associated with NARCOLEPSY. During a cataplectic attack, there is a marked reduction in muscle tone similar to the normal physiologic hypotonia that accompanies rapid eye movement sleep (SLEEP, REM). (From Adams et al., Principles of Neurology, 6th ed, p396) MESH:D009290 C10.886.425.800.200.750.500|F03.870.400.800.200.750.500 C10.886.425.800.200.750|F03.870.400.800.200.750 Attack, Cataleptic|Attacks, Cataleptic|Cataleptic Attack|Cataleptic Attacks|Henneberg Syndrome|Status Cataplexicus|Syndrome, Henneberg|Syndromes, Tonelessness|Syndrome, Tonelessness|Tonelessness Syndrome|Tonelessness Syndromes Mental disorder|Nervous system disease Cataract MESH:D002386 Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) MESH:D007905 C11.510.245 C11.510 Cataract, Membranous|Cataracts|Cataracts, Membranous|Lens Opacities|Lens Opacity|Membranous Cataract|Membranous Cataracts|Opacities, Lens|Opacity, Lens|Pseudoaphakia|Pseudoaphakias Eye disease CATARACT 13 WITH ADULT i PHENOTYPE OMIM:116700 DO:DOID:0110242 MESH:D002386 C11.510.245/116700 C11.510.245 CTRCT13 Eye disease CATARACT 15, MULTIPLE TYPES OMIM:615274 DO:DOID:0110251 MESH:D002386 C11.510.245/615274 C11.510.245 CTRCT15 Eye disease CATARACT 16, MULTIPLE TYPES OMIM:613763 DO:DOID:0110250 MESH:D002386 C11.510.245/613763 C11.510.245 CATARACT, CONGENITAL LAMELLAR|CATARACT, POSTERIOR POLAR, 2|CTPP2|CTRCT16 Eye disease CATARACT 19, MULTIPLE TYPES OMIM:615277 DO:DOID:0110263 MESH:D002386 C11.510.245/615277 C11.510.245 CTRCT19 Eye disease CATARACT 20, MULTIPLE TYPES OMIM:116100 DO:DOID:0110240 MESH:D002386 C11.510.245/116100 C11.510.245 CTRCT20 Eye disease CATARACT 23, MULTIPLE TYPES OMIM:610425 DO:DOID:0110271 MESH:D002386 C11.510.245/610425 C11.510.245 CATARACT 23, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|CTRCT23 Eye disease CATARACT 32, MULTIPLE TYPES OMIM:115650 DO:DOID:0110227 MESH:D002386 C11.510.245/115650 C11.510.245 CAP|CATARACT, ANTERIOR POLAR|CATARACT, ANTERIOR POLAR, 1|CATARACT, POSTERIOR POLAR, 5|CTAA1|CTPP5|CTRCT32 Eye disease CATARACT 36 OMIM:613887 DO:DOID:0110247 MESH:D002386 C11.510.245/613887 C11.510.245 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 4|CATC4|CTRCT36 Eye disease CATARACT 38 OMIM:614691 DO:DOID:0110245 MESH:D002386 C11.510.245/614691 C11.510.245 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5|CATC5|CTRCT38 Eye disease CATARACT 39, MULTIPLE TYPES OMIM:615188 DO:DOID:0110236 MESH:D002386 C11.510.245/615188 C11.510.245 CTRCT39 Eye disease CATARACT 3, MULTIPLE TYPES OMIM:601547 DO:DOID:0110269 MESH:D002386 C11.510.245/601547 C11.510.245 CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|CATARACT, CONGENITAL, CERULEAN TYPE, 2|CCA2|CTRCT3 Eye disease CATARACT 41 OMIM:116400 DO:DOID:0110241 MESH:D002386 C11.510.245/116400 C11.510.245 CATARACT 41, CONGENITAL NUCLEAR TYPE|CTRCT41 Eye disease CATARACT 42 OMIM:115900 DO:DOID:0110237 MESH:D002386 C11.510.245/115900 C11.510.245 CTRCT42 Eye disease CATARACT 43 OMIM:616279 DO:DOID:0110259 MESH:D002386 C11.510.245/616279 C11.510.245 CTRCT43 Eye disease CATARACT 44 OMIM:616509 DO:DOID:0110267 MESH:D002386 C11.510.245/616509 C11.510.245 CATARACT 44 AND HYPOTRICHOSIS|CTRCT44 Eye disease CATARACT 45 OMIM:616851 DO:DOID:0110262 MESH:D002386 C11.510.245/616851 C11.510.245 CTRCT45 Eye disease CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY OMIM:212500 DO:DOID:0110243 MESH:D001145|MESH:D002386|MESH:D009202 C11.510.245/212500|C14.280.067/212500|C14.280.238/212500|C23.550.073/212500 C11.510.245|C14.280.067|C14.280.238|C23.550.073 CATARACT, JUVENILE, HUTTERITE TYPE|CTRCT46 Cardiovascular disease|Eye disease|Pathology (process) CATARACT 4, MULTIPLE TYPES OMIM:115700 DO:DOID:0110234 MESH:D002386 C11.510.245/115700 C11.510.245 CACA|CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|CATARACT, CONGENITAL, CERULEAN TYPE, 3|CATARACT, CRYSTALLINE ACULEIFORM|CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL|CATARACT, PUNCTATE, PROGRESSIVE JUVENILE-ONSET|CCA3|CTRCT4|PCC Eye disease CATARACT 6, MULTIPLE TYPES OMIM:116600 DO:DOID:0110229 MESH:D002386 C11.510.245/116600 C11.510.245 ARCC2|CATARACT, AGE-RELATED CORTICAL, 2|CATARACT, POSTERIOR POLAR, 1|CTPP1|CTRCT6 Eye disease Cataract, Age-Related Cortical, 1 MESH:C563812 OMIM:609026 MESH:D002386 C11.510.245/C563812 C11.510.245 ARCC1|CATARACT 28|CATARACT, AGE-RELATED CORTICAL, 1|CTRCT28 Eye disease Cataract, Age-Related Nuclear MESH:C563333 MESH:D002386 C11.510.245/C563333 C11.510.245 Nuclear Sclerosis of the Lens Eye disease Cataract, alopecia, sclerodactyly MESH:C535336 DO:DOID:0111245 MESH:D000505|MESH:D002386|MESH:D012594 C11.510.245/C535336|C17.300.787/C535336|C17.800.329.937.122/C535336|C17.800.767/C535336|C23.300.035/C535336 C11.510.245|C17.300.787|C17.800.329.937.122|C17.800.767|C23.300.035 Cataract, alopecia, sclerodactyly syndrome|Cataract-Alopecia-Sclerodactyly Syndrome Connective tissue disease|Eye disease|Pathology (anatomical condition)|Skin disease Cataract and cardiomyopathy MESH:C538280 DO:DOID:0080132|OMIM:212350 MESH:D002386|MESH:D009202 C11.510.245/C538280|C14.280.238/C538280 C11.510.245|C14.280.238 Cardiomyopathy and cataract|MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE)|MTDPS10|Sengers syndrome Cardiovascular disease|Eye disease Cataract and congenital ichthyosis MESH:C538281 MESH:D002386|MESH:D007057 C11.510.245/C538281|C16.131.831.512/C538281|C16.614.492/C538281|C17.800.428.333/C538281|C17.800.804.512/C538281 C11.510.245|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 Syndromic cataract and congenital ichthyosis Congenital abnormality|Eye disease|Infant-newborn disease|Skin disease Cataract anterior polar dominant MESH:C538282 MESH:D002386 C11.510.245/C538282 C11.510.245 Anterior polar cataracts 1|Cataract anterior polar|Cataract, Anterior Polar|Cataract, Anterior Polar, 1 Eye disease Cataract ataxia deafness MESH:C538283 MESH:D001259|MESH:D002386|MESH:D006319|MESH:D010523 C09.218.458.341.887/C538283|C10.597.350.090/C538283|C10.597.751.418.341.887/C538283|C10.668.829/C538283|C11.510.245/C538283|C23.888.592.350.090/C538283|C23.888.592.763.393.341.887/C538283 C09.218.458.341.887|C10.597.350.090|C10.597.751.418.341.887|C10.668.829|C11.510.245|C23.888.592.350.090|C23.888.592.763.393.341.887 Begeer syndrome|Cataract-ataxia-deafness-retardation syndrome|Cataract ataxia deafness syndrome|Polyneuropathy, cataract, deafness syndrome|Polyneuropathy-Cataract-Deafness Syndrome Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms Cataract, Autosomal Dominant MESH:C565815 OMIM:604219 MESH:D002386 C11.510.245/C565815 C11.510.245 Cataract 9, Multiple Types|Cataract 9, multiple types, with or without microcornea|CATARACT, AUTOSOMAL DOMINANT|CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1|CATC1|CTRCT9 Eye disease Cataract, Autosomal Dominant, Multiple Types 1 MESH:C566909 OMIM:611597 MESH:D002386 C11.510.245/C566909 C11.510.245 CATARACT 12, MULTIPLE TYPES|CTRCT12 Eye disease Cataract, Autosomal Dominant Nuclear MESH:C565137 MESH:D002386 C11.510.245/C565137 C11.510.245 Eye disease Cataract, Autosomal Recessive Congenital 1 MESH:C565136 MESH:D002386 C11.510.245/C565136 C11.510.245 Eye disease Cataract, autosomal recessive congenital 2 MESH:C535337 OMIM:610019 MESH:D002386 C11.510.245/C535337 C11.510.245 CATARACT 18|CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2|CATC2|CTRCT18 Eye disease Cataract, Autosomal Recessive Congenital 3 MESH:C567835 OMIM:612968 MESH:D002386 C11.510.245/C567835 C11.510.245 CATARACT 34, MULTIPLE TYPES|CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 3|CATC3|CTRCT34 Eye disease Cataract, Autosomal Recessive, Early-Onset, Pulverulent MESH:C565298 OMIM:605749 MESH:D002386 C11.510.245/C565298 C11.510.245 CAAR|CATARACT 26, MULTIPLE TYPES|CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENT|CTRCT26 Eye disease Cataract, Central Saccular, With Sutural Opacities MESH:C565301 OMIM:605728 MESH:D002386 C11.510.245/C565301 C11.510.245 CATARACT 25|Cataract, Central Pouch-Like, With Sutural Opacities|CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES|CCSSO|CTRCT25 Eye disease Cataract, Congenital, Cerulean Type, 2 MESH:C563294 MESH:D002386 C11.510.245/C563294 C11.510.245 Cataract, Congenital, Blue Dot Type, 2 Eye disease Cataract, Congenital, Cerulean Type, 3 MESH:C563819 MESH:D002386 C11.510.245/C563819 C11.510.245 Cataract, Congenital Blue Dot Type, 3 Eye disease Cataract congenital dominant non nuclear MESH:C538284 MESH:D002386 C11.510.245/C538284 C11.510.245 Autosomal dominant nonnuclear polymorphic congenital cataract|Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant|Cataract, polymorphic congenital Eye disease Cataract, Congenital Nuclear, Autosomal Recessive 1 MESH:C563728 OMIM:609376 MESH:D002386|MESH:D015785 C11.270/C563728|C11.510.245/C563728|C16.320.290/C563728 C11.270|C11.510.245|C16.320.290 CATARACT 35|CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 1|CATCN1|CTRCT35 Eye disease|Genetic disease (inborn) Cataract, Congenital Nuclear, Autosomal Recessive 2 MESH:C565725 OMIM:609741 MESH:D002386|MESH:D015785 C11.270/C565725|C11.510.245/C565725|C16.320.290/C565725 C11.270|C11.510.245|C16.320.290 CATARACT 22, MULTIPLE TYPES|CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2|CATCN2|CTRCT22 Eye disease|Genetic disease (inborn) Cataract, Congenital Nuclear, Autosomal Recessive 3 MESH:C566923 OMIM:611544 MESH:D002386|MESH:D015785 C11.270/C566923|C11.510.245/C566923|C16.320.290/C566923 C11.270|C11.510.245|C16.320.290 CATARACT 17, MULTIPLE TYPES|CATARACT 17, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3|CATCN3|CTRCT17 Eye disease|Genetic disease (inborn) Cataract congenital Volkmann type MESH:C538285 OMIM:115665 MESH:D002386 C11.510.245/C538285 C11.510.245 CATARACT 8, MULTIPLE TYPES|Cataract, Congenital, Volkmann Type|CCV|CTRCT8 Eye disease Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy MESH:C564353 MESH:D002386|MESH:D008607 C10.597.606.360/C564353|C11.510.245/C564353|C23.888.592.604.646/C564353|F03.625.539/C564353 C10.597.606.360|C11.510.245|C23.888.592.604.646|F03.625.539 Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Cataract, congenital, with microcornea or slight microphthalmia MESH:C535338 OMIM:302200 MESH:D002386|MESH:D008850|MESH:D040181 C11.250.566/C535338|C11.510.245/C535338|C16.131.384.666/C535338|C16.320.322/C535338 C11.250.566|C11.510.245|C16.131.384.666|C16.320.322 CATARACT 40|CATARACT 40 WITH OR WITHOUT MICROCORNEA|Cataract, Congenital Total|Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes|Cataract congenital X-linked|CATARACT, CONGENITAL, X-LINKED|Cataract, total congenital|Cataract, total congenital with posterior sutural opacities in Heterozygotes|CCT|CTRCT40|CXN Congenital abnormality|Eye disease|Genetic disease (inborn) Cataract, Congenital Zonular, with Sutural Opacities MESH:C563435 OMIM:600881 MESH:D002386 C11.510.245/C563435 C11.510.245 CATARACT 10, MULTIPLE TYPES|CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES|CCZS|CTRCT10 Eye disease Cataract, Coppock-Like MESH:C565133 OMIM:604307 MESH:D002386 C11.510.245/C565133 C11.510.245 CATARACT 2, MULTIPLE TYPES|CATARACT 2, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|CATARACT, COPPOCK-LIKE|Cataract, Embryonic Nuclear|CCL|CTRCT2 Eye disease Cataract, Cortical, Juvenile-Onset MESH:C566955 OMIM:611391 MESH:D002386 C11.510.245/C566955 C11.510.245 CATARACT 33, MULTIPLE TYPES|CTRCT33 Eye disease Cataract, Cortical Pulverulent, Late-Onset MESH:C563604 MESH:D002386 C11.510.245/C563604 C11.510.245 Eye disease Cataract, Crystalline Aculeiform MESH:C566162 MESH:D002386 C11.510.245/C566162 C11.510.245 Cataract, Aculeiform Eye disease Cataract, Crystalline Coralliform MESH:C566161 MESH:D002386 C11.510.245/C566161 C11.510.245 Eye disease Cataract, Floriform MESH:C566160 MESH:D002386|MESH:D015785 C11.270/C566160|C11.510.245/C566160|C16.320.290/C566160 C11.270|C11.510.245|C16.320.290 Eye disease|Genetic disease (inborn) Cataract Hutterite type MESH:C538286 MESH:D002386 C11.510.245/C538286 C11.510.245 Eye disease Cataract, Juvenile, With Microcornea And Glucosuria MESH:C567434 OMIM:612018 MESH:D002386|MESH:D006030 C11.510.245/C567434|C12.050.351.968.419.815.532/C567434|C12.050.351.968.934.363.450/C567434|C12.200.777.419.815.532/C567434|C12.200.777.934.363.450/C567434|C12.950.419.815.532/C567434|C12.950.934.363.450/C567434|C16.320.831.532/C567434|C18.452.394.937.450/C567434 C11.510.245|C12.050.351.968.419.815.532|C12.050.351.968.934.363.450|C12.200.777.419.815.532|C12.200.777.934.363.450|C12.950.419.815.532|C12.950.934.363.450|C16.320.831.532|C18.452.394.937.450 CATARACT 47|CATARACT, JUVENILE, WITH MICROCORNEA|CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA, FORMERLY|CJMG, FORMERLY|CTRCT47 Eye disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Cataract, Lamellar 2 MESH:C566481 MESH:D002386 C11.510.245/C566481 C11.510.245 Eye disease Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome MESH:C566861 MESH:D001176|MESH:D002386|MESH:D007738|MESH:D008831 C05.116.900.800.500/C566861|C05.550.150/C566861|C05.651.102/C566861|C05.660.077/C566861|C05.660.207.620/C566861|C10.500.507.400.500/C566861|C11.510.245/C566861|C16.131.621.077/C566861|C16.131.621.207.620/C566861|C16.131.666.507.400.500/C566861 C05.116.900.800.500|C05.550.150|C05.651.102|C05.660.077|C05.660.207.620|C10.500.507.400.500|C11.510.245|C16.131.621.077|C16.131.621.207.620|C16.131.666.507.400.500 CAMAK Syndrome Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease Cataract microcornea syndrome MESH:C538287 MESH:D002386|MESH:D003316 C11.204/C538287|C11.510.245/C538287 C11.204|C11.510.245 Cataract-Microcornea Syndrome|Microcornea cataract syndrome|Microcornea-Cataract Syndrome Eye disease Cataract, Nuclear Diffuse Nonprogressive MESH:C566157 OMIM:116300 MESH:D002386 C11.510.245/C566157 C11.510.245 CATARACT 30, MULTIPLE TYPES|CTRCT30 Eye disease Cataract, Nuclear Progressive MESH:C564596 OMIM:607304 MESH:D002386 C11.510.245/C564596 C11.510.245 CATARACT 27|CATARACT 27, NUCLEAR PROGRESSIVE|Cataract, Congenital, Nuclear Progressive|CCNP|CTRCT27 Eye disease Cataract, Nuclear Total MESH:C566156 MESH:D002386 C11.510.245/C566156 C11.510.245 Eye disease Cataract, Polymorphic and Lamellar MESH:C563603 MESH:D002386 C11.510.245/C563603 C11.510.245 Eye disease Cataract, posterior polar, 1 MESH:C535339 MESH:D002386 C11.510.245/C535339 C11.510.245 Arcc2|Cataract, Age-Related Cortical, 2|Posterior polar cataract, 1 Eye disease Cataract, Posterior Polar, 2 MESH:C565134 MESH:D002386 C11.510.245/C565134 C11.510.245 Eye disease Cataract, posterior polar, 3 MESH:C535343 OMIM:605387 MESH:D002386 C11.510.245/C535343 C11.510.245 CATARACT 31, MULTIPLE TYPES|CATARACT, POSTERIOR POLAR, 3|CPP3|CTPP3|CTRCT31 Eye disease Cataract, posterior polar, 4 MESH:C535344 OMIM:610623 MESH:D002386 C11.510.245/C535344 C11.510.245 CATARACT 11, MULTIPLE TYPES|CATARACT, POSTERIOR POLAR, 4|Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities|CPP4 CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES, INCLUDED|CTPP4|CTRCT11|Posterior polar cataract, 4 Eye disease Cataract, posterior polar, 5 MESH:C535340 MESH:D002386 C11.510.245/C535340 C11.510.245 Eye disease Cataract, Progressive Polymorphic Cortical MESH:C565130 MESH:D002386 C11.510.245/C565130 C11.510.245 Eye disease Cataract, Pulverulent MESH:C563426 MESH:D002386|MESH:D015785 C11.270/C563426|C11.510.245/C563426|C16.320.290/C563426 C11.270|C11.510.245|C16.320.290 Eye disease|Genetic disease (inborn) Cataract, Pulverulent, Juvenile-Onset MESH:C565703 OMIM:610202 MESH:D002386 C11.510.245/C565703 C11.510.245 CATARACT 21, MULTIPLE TYPES|CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|Cataract, Congenital, Cerulean Type, 4|CATARACT, PULVERULENT, JUVENILE-ONSET|CCA4|CTRCT21 Eye disease Cataract, Punctate, Progressive Juvenile-Onset MESH:C565131 MESH:D002386 C11.510.245/C565131 C11.510.245 Eye disease Cataracts, ataxia, short stature, and mental retardation MESH:C535345 MESH:D001259|MESH:D002386|MESH:D006130|MESH:D008607 C10.597.350.090/C535345|C10.597.606.360/C535345|C11.510.245/C535345|C23.550.393/C535345|C23.888.592.350.090/C535345|C23.888.592.604.646/C535345|F03.625.539/C535345 C10.597.350.090|C10.597.606.360|C11.510.245|C23.550.393|C23.888.592.350.090|C23.888.592.604.646|F03.625.539 CASM Syndrome|Cataract, Ataxia, Short Stature, And Mental Retardation Eye disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation MESH:C563390 DO:DOID:0111688|OMIM:601088 MESH:D002386|MESH:D006130|MESH:D006319|MESH:D008607|MESH:D019066 C09.218.458.341.887/C563390|C10.597.606.360/C563390|C10.597.751.418.341.887/C563390|C11.510.245/C563390|C23.550.291.812/C563390|C23.550.393/C563390|C23.888.592.604.646/C563390|C23.888.592.763.393.341.887/C563390|F03.625.539/C563390 C09.218.458.341.887|C10.597.606.360|C10.597.751.418.341.887|C11.510.245|C23.550.291.812|C23.550.393|C23.888.592.604.646|C23.888.592.763.393.341.887|F03.625.539 AYGRP|AYME-GRIPP SYNDROME|CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA OMIM:616007 MESH:D002386|MESH:D004393|MESH:D006319|MESH:D009477|MESH:D010009 C05.116.099.343.445/616007|C05.116.099.708/616007|C05.116.132.358/616007|C09.218.458.341.887/616007|C10.228.140.617.738.300.300/616007|C10.500.250/616007|C10.574.500.493/616007|C10.597.751.418.341.887/616007|C10.668.829.800.175/616007|C11.510.245/616007|C16.131.666.310/616007|C16.320.400.415/616007|C16.320.728/616007|C19.297.312/616007|C19.700.482.311/616007|C23.888.592.763.393.341.887/616007 C05.116.099.343.445|C05.116.099.708|C05.116.132.358|C09.218.458.341.887|C10.228.140.617.738.300.300|C10.500.250|C10.574.500.493|C10.597.751.418.341.887|C10.668.829.800.175|C11.510.245|C16.131.666.310|C16.320.400.415|C16.320.728|C19.297.312|C19.700.482.311|C23.888.592.763.393.341.887 CAGSSS Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Cataract, Sutural, with Punctate and Cerulean Opacities MESH:C564619 MESH:D002386 C11.510.245/C564619 C11.510.245 Eye disease Cataract, Variable Zonular Pulverulent MESH:C565132 MESH:D002386 C11.510.245/C565132 C11.510.245 Eye disease Cataract, zonular MESH:C535342 OMIM:116800 MESH:D002386 C11.510.245/C535342 C11.510.245 CAM|CATARACT 5, MULTIPLE TYPES|Cataract, lamellar|Cataract, Marner Type|CTM|CTRCT5|Perinuclear cataract Eye disease Cataract, Zonular Central Nuclear MESH:C565135 MESH:D002386 C11.510.245/C565135 C11.510.245 Eye disease Cataract, Zonular Pulverulent 1 MESH:C566158 OMIM:116200 MESH:D002386 C11.510.245/C566158 C11.510.245 CAE1|CATARACT 1, MULTIPLE TYPES|CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA|Cataract, Duffy-Linked|CATARACT, ZONULAR PULVERULENT, 1|CTRCT1|CZP|CZP1|Pulverulent Zonular Cataract Eye disease Cataract, Zonular Pulverulent 3 MESH:C566608 OMIM:601885 MESH:D002386 C11.510.245/C566608 C11.510.245 CAE3|CATARACT 14, MULTIPLE TYPES|CATARACT, ZONULAR PULVERULENT 3|CTRCT14|CZP3 Eye disease Catastrophic Illness MESH:D002388 An acute or prolonged illness usually considered to be life-threatening or with the threat of serious residual disability. Treatment may be radical and is frequently costly. MESH:D020969 C23.550.291.250 C23.550.291 Catastrophic Illnesses|Illness, Catastrophic|Illnesses, Catastrophic Pathology (process) Catatonia MESH:D002389 A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations. This condition may be associated with psychiatric illnesses (e.g., SCHIZOPHRENIA; MOOD DISORDERS) or organic disorders (NEUROLEPTIC MALIGNANT SYNDROME; ENCEPHALITIS, etc.). (From DSM-IV, 4th ed, 1994; APA, Thesaurus of Psychological Index Terms, 1994) MESH:D019954 C10.597.606.115|C23.888.592.604.115 C10.597.606|C23.888.592.604 Catatonia, Lethal|Catatonia, Malignant|Catatonia, Organic|Catatonias|Catatonia, Schizophreniform|Catatonias, Lethal|Catatonias, Malignant|Catatonias, Organic|Catatonias, Schizophreniform|Catatonic Disorder, Organic|Catatonic Disorders, Organic|Lethal Catatonia|Lethal Catatonias|Malignant Catatonia|Malignant Catatonias|Organic Catatonia|Organic Catatonias|Organic Catatonic Disorder|Organic Catatonic Disorders|Schizophreniform Catatonia|Schizophreniform Catatonias Nervous system disease|Signs and symptoms Catatrichy MESH:C535346 MESH:D006201 C17.800.329/C535346 C17.800.329 Forelock Skin disease Cat Diseases MESH:D002371 Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used. MESH:D000820 C22.180 C22 Cat Disease|Disease, Cat|Disease, Feline|Diseases, Cat|Diseases, Feline|Feline Disease|Feline Diseases Animal disease Catel Manzke syndrome MESH:C535347 DO:DOID:0081122 MESH:D006228|MESH:D010855 C05.390.408/C535347|C05.500.460.606/C535347|C05.660.207.540.460.606/C535347|C05.660.585.988.425/C535347|C07.320.440.606/C535347|C07.650.500.460.606/C535347|C16.131.621.207.540.460.606/C535347|C16.131.621.585.988.500/C535347|C16.131.850.500.460.606/C535347 C05.390.408|C05.500.460.606|C05.660.207.540.460.606|C05.660.585.988.425|C07.320.440.606|C07.650.500.460.606|C16.131.621.207.540.460.606|C16.131.621.585.988.500|C16.131.850.500.460.606 Catel-Manzke Syndrome|Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome|Index Finger Anomaly With Pierre Robin Syndrome|Palatodigital syndrome, Catel-Manzke type|Pierre Robin syndrome with hyperphalangy and clinodactyly Congenital abnormality|Mouth disease|Musculoskeletal disease CATEL-MANZKE SYNDROME OMIM:616145 DO:DOID:0081122 MESH:C535347 C05.390.408/C535347/616145|C05.500.460.606/C535347/616145|C05.660.207.540.460.606/C535347/616145|C05.660.585.988.425/C535347/616145|C07.320.440.606/C535347/616145|C07.650.500.460.606/C535347/616145|C16.131.621.207.540.460.606/C535347/616145|C16.131.621.585.988.500/C535347/616145|C16.131.850.500.460.606/C535347/616145 C05.390.408/C535347|C05.500.460.606/C535347|C05.660.207.540.460.606/C535347|C05.660.585.988.425/C535347|C07.320.440.606/C535347|C07.650.500.460.606/C535347|C16.131.621.207.540.460.606/C535347|C16.131.621.585.988.500/C535347|C16.131.850.500.460.606/C535347 CATMANS|HYPERPHALANGY-CLINODACTYLY OF INDEX FINGER WITH PIERRE ROBIN SYNDROME|INDEX FINGER ANOMALY WITH PIERRE ROBIN SYNDROME|MICROGNATHIA DIGITAL SYNDROME|PALATODIGITAL SYNDROME, CATEL-MANZKE TYPE|PIERRE ROBIN SYNDROME WITH HYPERPHALANGY AND CLINODACTYLY Congenital abnormality|Mouth disease|Musculoskeletal disease Catheter-Related Infections MESH:D055499 Infections resulting from the use of catheters. Proper aseptic technique, site of catheter placement, material composition, and virulence of the organism are all factors that can influence possible infection. MESH:D007239 C01.195 C01 Associated Infection, Catheter|Associated Infections, Catheter|Catheter Associated Infection|Catheter-Associated Infection|Catheter Associated Infections|Catheter-Associated Infections|Catheter Related Infection|Catheter-Related Infection|Catheter Related Infections|Infection, Catheter Associated|Infection, Catheter-Associated|Infection, Catheter Related|Infection, Catheter-Related|Infections, Catheter Associated|Infections, Catheter-Associated|Infections, Catheter Related|Infections, Catheter-Related|Related Infection, Catheter|Related Infections, Catheter Cat-Scratch Disease MESH:D002372 DO:DOID:11258 A self-limiting bacterial infection of the regional lymph nodes caused by AFIPIA felis, a gram-negative bacterium recently identified by the Centers for Disease Control and Prevention and by BARTONELLA HENSELAE. It usually arises one or more weeks following a feline scratch, with raised inflammatory nodules at the site of the scratch being the primary symptom. MESH:D001474|MESH:D008199 C01.150.252.400.126.100.150|C15.604.315.249 C01.150.252.400.126.100|C15.604.315 Bartonella henselae Infection|Bartonella henselae Infections|Catscratch Disease|Cat Scratch Disease|Catscratch Diseases|Cat Scratch Diseases|Cat-Scratch Diseases|Cat Scratch Fever|Cat Scratch Fevers|Fever, Cat Scratch|Infection, Bartonella henselae|Infections, Bartonella henselae|Inoculation Lymphoreticuloses|Inoculation Lymphoreticulosis|Inoculative Lymphoreticuloses|Inoculative Lymphoreticulosis|Lymphoreticuloses, Inoculation|Lymphoreticuloses, Inoculative|Lymphoreticulosis, Inoculation|Lymphoreticulosis, Inoculative|Scratch Disease, Cat|Scratch Diseases, Cat|Scratch Fever, Cat Bacterial infection or mycosis|Lymphatic disease CATSHL syndrome MESH:C537975 DO:DOID:0111160|OMIM:610474 MESH:D001848|MESH:D006228|MESH:D034381 C05.116.099/C537975|C05.390.408/C537975|C05.660.585.988.425/C537975|C09.218.458.341/C537975|C10.597.751.418.341/C537975|C16.131.621.585.988.500/C537975|C23.888.592.763.393.341/C537975 C05.116.099|C05.390.408|C05.660.585.988.425|C09.218.458.341|C10.597.751.418.341|C16.131.621.585.988.500|C23.888.592.763.393.341 Camptodactyly, tall stature, and hearing loss syndrome|CATSHLS|CATSHL SYNDROME Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Catsper1-Related Nonsyndromic Male Infertility MESH:C579978 MESH:D007248 C12.100.500.430/C579978|C12.100.750.700/C579978|C12.200.294.430/C579978 C12.100.500.430|C12.100.750.700|C12.200.294.430 Catsper1-Related Male Infertility|Catsper-Related Nonsyndromic Male Infertility Urogenital disease (male) Cattle Diseases MESH:D002418 Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus. MESH:D000820 C22.196 C22 Bovine Disease|Bovine Diseases|Cattle Disease|Disease, Bovine|Disease, Cattle|Diseases, Bovine|Diseases, Cattle Animal disease Cauda Equina Syndrome MESH:D000077684 DO:DOID:11577 Compressive lesion affecting the nerve roots of the CAUDA EQUINA (e.g., compression, herniation, inflammation, rupture, or stenosis), which controls the function of the bladder and bowel. Symptoms may include neurological dysfunction of bladder or bowels, loss of sexual sensation and altered sensation or paralysis in the lower extremities. MESH:D009408|MESH:D011129 C10.668.829.550.350|C10.668.829.800.750.150 C10.668.829.550|C10.668.829.800.750 Cauda Equina Syndromes Nervous system disease Caudal Duplication Anomaly MESH:C564315 OMIM:607864 MESH:D000013 C16.131/C564315 C16.131 Congenital abnormality Causalgia MESH:D002422 DO:DOID:3222 A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359) MESH:D009437|MESH:D020918 C10.177.195.200|C10.668.829.250.200|C10.668.829.600.200 C10.177.195|C10.668.829.250|C10.668.829.600 Causalgia Syndrome|Causalgia Syndromes|Complex Regional Pain Syndrome Type II|CRPS Type II|Deafferentation Pain|Pain, Deafferentation|Syndrome, Causalgia|Syndromes, Causalgia|Type II Complex Regional Pain Syndrome Nervous system disease Cavernous Malformations of CNS and Retina MESH:C566152 MESH:D020785 C10.500.190/C566152|C14.240.850.875/C566152|C16.131.240.850.875/C566152|C16.131.666.190/C566152 C10.500.190|C14.240.850.875|C16.131.240.850.875|C16.131.666.190 Cardiovascular disease|Congenital abnormality|Nervous system disease Cavernous Sinus Thrombosis MESH:D020226 DO:DOID:3575 Formation or presence of a blood clot (THROMBUS) in the CAVERNOUS SINUS of the brain. Infections of the paranasal sinuses and adjacent structures, CRANIOCEREBRAL TRAUMA, and THROMBOPHILIA are associated conditions. Clinical manifestations include dysfunction of cranial nerves III, IV, V, and VI, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711) MESH:D012851 C10.228.140.300.525.425.500.375|C14.907.253.566.350.500.375|C14.907.355.590.213.350.500.375 C10.228.140.300.525.425.500|C14.907.253.566.350.500|C14.907.355.590.213.350.500 Cavernous Sinus, Phlebitis, Septic|Cavernous Sinus Thrombophlebitides|Cavernous Sinus Thrombophlebitis|Cavernous Sinus Thromboses|Caverous Sinus Septic Phlebitis|Phlebitis, Cavernous Sinus, Septic|Septic Phlebitis, Cavernous Sinus|Sinus Thrombophlebitides, Cavernous|Sinus Thrombophlebitis, Cavernous|Sinus Thromboses, Cavernous|Sinus Thrombosis, Cavernous|Thrombophlebitides, Cavernous Sinus|Thrombophlebitis, Cavernous Sinus|Thromboses, Cavernous Sinus|Thrombosis, Cavernous Sinus Cardiovascular disease|Nervous system disease Cavitary Optic Disc Anomalies MESH:C566924 OMIM:611543 MESH:D015785 C11.270/C566924|C16.320.290/C566924 C11.270|C16.320.290 Cavitary Optic Disk Anomalies|CODA Eye disease|Genetic disease (inborn) Cayler cardiofacial syndrome MESH:C535349 OMIM:125520 MESH:D005158 C07.465.327/C535349|C10.597.622.214/C535349|C23.888.592.636.214/C535349 C07.465.327|C10.597.622.214|C23.888.592.636.214 ACF|Asymmetric crying facies|Cayler's syndrome|Cayler syndrome|Depressor Anguli Oris Muscle, Hypoplasia Of|Facial paresis partial unilateral|Facial Paresis, Partial, Unilateral|Partial unilateral facial paralysis Mouth disease|Nervous system disease|Signs and symptoms Cd4+ Lymphocyte Deficiency MESH:C566079 MESH:D007153|MESH:D007960 C15.378.553/C566079|C20.673/C566079 C15.378.553|C20.673 Blood disease|Immune system disease CD59 Deficiency MESH:C567355 OMIM:612300 MESH:D000743|MESH:D006456 C12.050.351.968.934.734.634/C567355|C12.200.777.934.734.634/C567355|C12.950.934.734.634/C567355|C15.378.071.141/C567355|C23.888.942.750.634/C567355 C12.050.351.968.934.734.634|C12.200.777.934.734.634|C12.950.934.734.634|C15.378.071.141|C23.888.942.750.634 CD59 DEFICIENCY|HACD59|HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY Blood disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) CD8 Deficiency, Familial MESH:C563824 OMIM:608957 MESH:D000081207 C16.320.798/C563824|C20.673.795/C563824 C16.320.798|C20.673.795 Genetic disease (inborn)|Immune system disease CDKL5 deficiency disorder MESH:C564064 OMIM:300672 MESH:D000073376|MESH:D013036 C10.228.140.490.375.760/C564064|C10.228.140.490.493.875/C564064|C10.228.140.490.493/C564064 C10.228.140.490.375.760|C10.228.140.490.493|C10.228.140.490.493.875 CDKL5 Disorder|DEE2|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2|EIEE2|Epileptic Encephalopathy, Early Infantile, 2|Infantile Spasm Syndrome, X-Linked 2|ISSX2|Rett Syndrome, Atypical, Cdkl5-Related|Rett Syndrome, Variant, With Infantile Spasms Nervous system disease Cecal Diseases MESH:D002429 DO:DOID:1518 Pathological developments in the CECUM. MESH:D007410 C06.405.469.110 C06.405.469 Cecal Disease|Disease, Cecal|Diseases, Cecal Digestive system disease Cecal Neoplasms MESH:D002430 DO:DOID:1517|DO:DOID:1521 Tumors or cancer of the CECUM. MESH:D002429|MESH:D007414 C04.588.274.476.411.184|C06.301.371.411.184|C06.405.249.411.184|C06.405.469.110.417|C06.405.469.491.184 C04.588.274.476.411|C06.301.371.411|C06.405.249.411|C06.405.469.110|C06.405.469.491 Cancer, Cecal|Cancer of Cecum|Cancer of the Cecum|Cecal Cancer|Cecal Neoplasm|Neoplasm, Cecal|Neoplasms, Cecal Cancer|Digestive system disease Celiac Disease MESH:D002446 DO:DOID:10608|OMIM:212750|OMIM:607202|OMIM:609753|OMIM:609754|OMIM:609755|OMIM:611598|OMIM:612005|OMIM:612006|OMIM:612007|OMIM:612008|OMIM:612009|OMIM:612010|OMIM:612011 A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. MESH:D008286 C06.405.469.637.250|C18.452.603.250 C06.405.469.637|C18.452.603 AIS5, INCLUDED|CELIAC1|CELIAC10|CELIAC11|CELIAC12|CELIAC13|CELIAC2|CELIAC3|CELIAC4|CELIAC5|CELIAC6|CELIAC7|CELIAC8|CELIAC9|CELIAC DISEASE, SUSCEPTIBILITY TO, 1|CELIAC DISEASE, SUSCEPTIBILITY TO, 10|CELIAC DISEASE, SUSCEPTIBILITY TO, 11|CELIAC DISEASE, SUSCEPTIBILITY TO, 12|CELIAC DISEASE, SUSCEPTIBILITY TO, 13|CELIAC DISEASE, SUSCEPTIBILITY TO, 2|CELIAC DISEASE, SUSCEPTIBILITY TO, 3|CELIAC DISEASE, SUSCEPTIBILITY TO, 4|CELIAC DISEASE, SUSCEPTIBILITY TO, 5|CELIAC DISEASE, SUSCEPTIBILITY TO, 6|CELIAC DISEASE, SUSCEPTIBILITY TO, 7|CELIAC DISEASE, SUSCEPTIBILITY TO, 8|CELIAC DISEASE, SUSCEPTIBILITY TO, 9|Celiac Sprue|CELIAC SPRUE, SUSCEPTIBILITY TO, 1|Disease, Celiac|Enteropathies, Gluten|Enteropathies, Gluten-Sensitive|Enteropathy, Gluten|Enteropathy, Gluten-Sensitive|Gluten Enteropathies|Gluten Enteropathy|Gluten-Sensitive Enteropathies|Gluten Sensitive Enteropathy|Gluten-Sensitive Enteropathy|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 1|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 10|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 11|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 12|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 13|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 2|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 4|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 5|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 6 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 7|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 8|GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 9|GSES|Nontropical Sprue|Sprue|Sprue, Celiac|Sprue, Nontropical Digestive system disease|Metabolic disease cell-associated neurotoxicity MESH:C000722498 MESH:D020258 C10.720/C000722498|C25.723.705/C000722498 C10.720|C25.723.705 immune effector cell-associated neurotoxicity syndrome Nervous system disease Cell Transformation, Neoplastic MESH:D002471 OMIM:614401 Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill. MESH:D063646 C04.697.098.500|C23.550.727.098.500 C04.697.098|C23.550.727.098 ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO|ACTFS|Cell Neoplastic Transformation|Cell Neoplastic Transformations|Cell Transformations, Neoplastic|Neoplastic Cell Transformation|Neoplastic Cell Transformations|Neoplastic Transformation, Cell|Neoplastic Transformations, Cell|Transformation, Cell Neoplastic|Transformation, Neoplastic Cell|Transformations, Cell Neoplastic|Transformations, Neoplastic Cell|Transformations, Tumorigenic|Transformation, Tumorigenic|Tumorigenic Transformation|Tumorigenic Transformations Cancer|Pathology (process) Cell Transformation, Viral MESH:D002472 An inheritable change in cells manifested by changes in cell division and growth and alterations in cell surface properties. It is induced by infection with a transforming virus. MESH:D002471 C04.697.098.500.160|C23.550.727.098.500.160 C04.697.098.500|C23.550.727.098.500 Cell Transformations, Viral|Transformations, Viral Cell|Transformation, Viral Cell|Viral Cell Transformation|Viral Cell Transformations Cancer|Pathology (process) Cellulite MESH:D000071697 Skin lumpiness or skin surface dimpling often seen on the thighs, buttocks and abdomen. It is due to protrusion of SUBCUTANEOUS FAT into the DERMIS layer of skin. MESH:D012877 C23.888.885.281 C23.888.885 Cellulites Signs and symptoms Cellulitis MESH:D002481 DO:DOID:3488 An acute, diffuse, and suppurative inflammation of loose connective tissue, particularly the deep subcutaneous tissues, and sometimes muscle, which is most commonly seen as a result of infection of a wound, ulcer, or other skin lesions. MESH:D003240|MESH:D012874|MESH:D013492 C01.800.130|C01.830.200|C17.300.185|C23.550.470.756.200 C01.800|C01.830|C17.300|C23.550.470.756 Phlegmon Connective tissue disease|Pathology (process) Cementoma MESH:D002485 An odontogenic fibroma in which cells have developed into cementoblasts and which consists largely of cementum. MESH:D009808 C04.557.695.210 C04.557.695 Cementifying Fibroma, Mandibular|Cementifying Fibroma, Maxillary|Cementifying Fibroma of Mandible|Cementifying Fibroma of Maxilla|Cementifying Fibromas, Mandibular|Cementifying Fibromas, Maxillary|Cementomas|Cemento Ossifying Fibroma|Cemento-Ossifying Fibroma|Cemento-Ossifying Fibromas|Dysplasia, Periapical Fibrous|Fibroma, Cemento-Ossifying|Fibroma, Mandibular Cementifying|Fibroma, Maxillary Cementifying|Fibrous Dysplasia, Periapical|Fibrous Dysplasias, Periapical|Mandible Cementifying Fibroma|Mandible Cementifying Fibromas|Mandible Ossifying Fibroma|Mandible Ossifying Fibromas|Mandibular Cementifying Fibroma|Mandibular Cementifying Fibromas|Maxilla Cementifying Fibroma|Maxilla Cementifying Fibromas|Maxilla Ossifying Fibroma|Maxilla Ossifying Fibromas|Maxillary Cementifying Fibroma|Maxillary Cementifying Fibromas|Ossifying Fibroma of Mandible|Ossifying Fibroma of Maxilla|Periapical Fibrous Dysplasia|Periapical Fibrous Dysplasias Cancer Central Cord Syndrome MESH:D020210 A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent. MESH:D013119 C10.228.854.763.500|C10.900.850.625|C26.819.339 C10.228.854.763|C10.900.850|C26.819 Central Cord Injury Syndrome|Central Spinal Cord Syndrome Nervous system disease|Wounds and injuries Central Nervous System Bacterial Infections MESH:D020806 Bacterial infections of the brain, spinal cord, and meninges, including infections involving the perimeningeal spaces. MESH:D001424|MESH:D002494 C01.150.252.223|C01.207.180|C10.228.228.180 C01.150.252|C01.207|C10.228.228 Bacterial Infections, Central Nervous System|Infections, Bacterial, Central Nervous System Bacterial infection or mycosis|Nervous system disease Central Nervous System Cysts MESH:D020863 Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement. MESH:D009421|MESH:D016543 C04.588.614.250.387|C10.500.142|C10.551.240.375|C16.131.666.142 C04.588.614.250|C10.500|C10.551.240|C16.131.666 Cleft Cyst, Rathke|Cleft Cyst, Rathke's|Cleft Cysts, Rathke's|CNS Cyst|CNS Cysts|Cyst, CNS|Cyst, Rathke Cleft|Cyst, Rathke's Cleft|Cysts, Central Nervous System|Cysts, CNS|Cysts, Rathke Cleft|Cysts, Suprasellar|Cyst, Suprasellar|Rathke Cleft Cyst|Rathke Cleft Cysts|Rathke's Cleft Cyst|Rathkes Cleft Cyst|Rathke's Cleft Cysts|Rathkes Cleft Cysts|Suprasellar Cyst|Suprasellar Cysts Cancer|Congenital abnormality|Nervous system disease Central Nervous System Diseases MESH:D002493 DO:DOID:331 Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord. MESH:D009422 C10.228 C10 Central Nervous System Disease|Central Nervous System Disorder|Central Nervous System Disorders|CNS Disease|CNS Diseases Nervous system disease Central Nervous System Fungal Infections MESH:D020314 MYCOSES of the brain, spinal cord, and meninges which may result in ENCEPHALITIS; MENINGITIS, FUNGAL; MYELITIS; BRAIN ABSCESS; and EPIDURAL ABSCESS. Certain types of fungi may produce disease in immunologically normal hosts, while others are classified as opportunistic pathogens, causing illness primarily in immunocompromised individuals (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME). MESH:D002494|MESH:D009181 C01.150.703.181|C01.207.198|C10.228.228.198 C01.150.703|C01.207|C10.228.228 Central Nervous System Mycoses|CNS Fungal Infection|CNS Fungal Infections|Fungal Infection, CNS|Fungal Infections, Central Nervous System|Fungal Infections, CNS|Infection, CNS Fungal|Infections, CNS Fungal|Infections, Fungal, Central Nervous System|Mycoses, Central Nervous System Bacterial infection or mycosis|Nervous system disease Central Nervous System Helminthiasis MESH:D020809 Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms). MESH:D020807 C01.207.205.250|C01.610.105.250|C10.228.228.205.250 C01.207.205|C01.610.105|C10.228.228.205 Cerebral Helminthiasis|CNS Helminthiases|CNS Helminthiasis|Helminthiases, CNS|Helminthiasis, Central Nervous System|Helminthiasis, Cerebral|Helminthiasis, CNS Nervous system disease|Parasitic disease Central Nervous System Infections MESH:D002494 Pathogenic infections of the brain, spinal cord, and meninges. DNA VIRUS INFECTIONS; RNA VIRUS INFECTIONS; BACTERIAL INFECTIONS; MYCOPLASMA INFECTIONS; SPIROCHAETALES INFECTIONS; fungal infections; PROTOZOAN INFECTIONS; HELMINTHIASIS; and PRION DISEASES may involve the central nervous system as a primary or secondary process. MESH:D002493|MESH:D007239 C01.207|C10.228.228 C01|C10.228 Central Nervous System Infection|CNS Infection|CNS Infections|Infection, CNS|Infections, Central Nervous System|Infections, CNS Nervous system disease Central Nervous System Neoplasms MESH:D016543 DO:DOID:3620 Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges. MESH:D009423 C04.588.614.250|C10.551.240 C04.588.614|C10.551 Central Nervous System Neoplasm|Central Nervous System Neoplasms, Primary|Central Nervous System Tumor|Central Nervous System Tumors|CNS Neoplasm|CNS Neoplasms|Neoplasm, CNS|Neoplasms, Central Nervous System|Neoplasms, CNS|Primary Central Nervous System Neoplasm|Primary Central Nervous System Neoplasms|Tumors, Central Nervous System Cancer|Nervous system disease Central Nervous System Parasitic Infections MESH:D020807 Infections of the brain, spinal cord, and meninges caused by parasites. MESH:D002494|MESH:D010272 C01.207.205|C01.610.105|C10.228.228.205 C01.207|C01.610|C10.228.228 CNS Parasitic Infection|CNS Parasitic Infections|Infection, CNS Parasitic|Infections, Central Nervous System, Parasitic|Infections, CNS Parasitic|Infections, Parasitic, Central Nervous System|Parasitic Infection, CNS|Parasitic Infections, Central Nervous System|Parasitic Infections, CNS Nervous system disease|Parasitic disease Central Nervous System Protozoal Infections MESH:D020808 Infections of the brain, spinal cord, or meninges by single celled organisms of the former subkingdom known as protozoa. The central nervous system may be the primary or secondary site of protozoal infection. These diseases may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts. MESH:D011528|MESH:D020807 C01.207.205.300|C01.610.105.300|C01.610.752.100|C10.228.228.205.300 C01.207.205|C01.610.105|C01.610.752|C10.228.228.205 Acanthamoeba Meningoencephalitides|Acanthamoeba Meningoencephalitis|Amebic Meningoencephalitides|Amebic Meningoencephalitides, Primary|Amebic Meningoencephalitis|Amebic Meningoencephalitis, Primary|Balamuthia mandrillaris CNS Infection|Balamuthia mandrillaris Meningoencephalitides|Balamuthia mandrillaris Meningoencephalitis|Cerebral Protozoal Infection|Cerebral Protozoal Infections|CNS Protozoal Infection|CNS Protozoal Infections|Infection, Central Nervous System, Protozoal|Infection, Cerebral Protozoal|Infection, CNS Protozoal|Infection, Naegleria fowleri|Infections, CNS Protozoal|Infections, Protozoal, Central Nervous System|Meningoencephalitides, Acanthamoeba|Meningoencephalitides, Amebic|Meningoencephalitides, Balamuthia mandrillaris|Meningoencephalitides, Naegleria fowleri|Meningoencephalitides, Primary Amebic|Meningoencephalitides, Protozoal|Meningoencephalitides, Sappinia diploidea|Meningoencephalitis, Acanthamoeba|Meningoencephalitis, Amebic|Meningoencephalitis, Balamuthia mandrillaris|Meningoencephalitis, Naegleria fowleri|Meningoencephalitis, Primary Amebic|Meningoencephalitis, Protozoal|Meningoencephalitis, Sappinia diploidea|Naegleria fowleri Infection|Naegleria fowleri Infections|Naegleria fowleri Meningoencephalitides|Naegleria fowleri Meningoencephalitis|Primary Amebic Meningoencephalitides|Primary Amebic Meningoencephalitis|Protozoal Infection, Cerebral|Protozoal Infection, CNS|Protozoal Infections, Central Nervous System|Protozoal Infections, Cerebral|Protozoal Infections, CNS|Protozoal Meningoencephalitides|Protozoal Meningoencephalitis|Sappinia diploidea Meningoencephalitides|Sappinia diploidea Meningoencephalitis Nervous system disease|Parasitic disease Central Nervous System Vascular Malformations MESH:D020785 Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the BRAIN; SPINAL CORD; and MENINGES. MESH:D009421|MESH:D054079 C10.500.190|C14.240.850.875|C16.131.240.850.875|C16.131.666.190 C10.500|C14.240.850|C16.131.240.850|C16.131.666 Arteriovenous Fistula, Dural|Arteriovenous Fistulas, Dural|Brain Capillary Telangiectasia|Brain Capillary Telangiectasias|Brain Vascular Malformation|Brain Vascular Malformations|Capillary Telangiectasia, Brain|Capillary Telangiectasia, Pontine|Capillary Telangiectasias, Brain|Capillary Telangiectasias, Pontine|Central Nervous System Congenital Vascular Malformations|Central Nervous System Vascular Anomalies|Cerebral Embryonic Artery, Persistent|CNS Vascular Malformation|CNS Vascular Malformations|Congenital Vascular Malformations, Central Nervous System|Dural Arteriovenous Fistula|Dural Arteriovenous Fistulas|Embryonic Artery, Persistent, Cerebral|Malformation, Brain Vascular|Malformation, CNS Vascular|Malformations, Brain Vascular|Malformations, CNS Vascular|Persistent Cerebral Embryonic Artery|Pontine Capillary Telangiectasia|Pontine Capillary Telangiectasias|Telangiectasia, Brain Capillary|Telangiectasia, Pontine Capillary|Telangiectasias, Brain Capillary|Telangiectasias, Pontine Capillary|Vascular Anomalies, Central Nervous System|Vascular Malformation, Brain|Vascular Malformation, CNS|Vascular Malformations, Brain|Vascular Malformations, Central Nervous System|Vascular Malformations, CNS|Vascular Malformations, Congenital, Nervous System Cardiovascular disease|Congenital abnormality|Nervous system disease Central Nervous System Venous Angioma MESH:D020787 A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding. MESH:D006391|MESH:D020785 C04.557.645.375.185|C10.500.190.100|C14.240.850.875.124|C16.131.666.190.100 C04.557.645.375|C10.500.190|C14.240.850.875|C16.131.666.190 Angioma, Cerebral Venous|Angioma, CNS Venous|Angioma, Intracranial Venous|Angiomas, Cerebral Venous|Angiomas, CNS Venous|Angiomas, Intracranial Venous|Angioma, Venous, Central Nervous System|Cerebral Venous Angioma|Cerebral Venous Angiomas|CNS Venous Angioma|CNS Venous Angiomas|Intracranial Venous Angioma|Intracranial Venous Angiomas|Venous Angioma, Central Nervous System|Venous Angioma, Cerebral|Venous Angioma, CNS|Venous Angioma, Intracranial|Venous Angiomas, Cerebral|Venous Angiomas, CNS|Venous Angiomas, Intracranial Cancer|Cardiovascular disease|Congenital abnormality|Nervous system disease Central Nervous System Viral Diseases MESH:D020805 Viral infections of the brain, spinal cord, meninges, or perimeningeal spaces. MESH:D002494|MESH:D014777 C01.207.245|C01.925.182|C10.228.228.245 C01.207|C01.925|C10.228.228 Central Nervous System Viral Infections|CNS Infections, Viral|CNS Infection, Viral|CNS Viral Disease|CNS Viral Diseases|Disease, CNS Viral|Diseases, CNS Viral|Infections, CNS, Viral|Infections, Viral CNS|Infection, Viral CNS|Viral CNS Infection|Viral CNS Infections|Viral Disease, CNS|Viral Diseases, Central Nervous System|Viral Diseases, CNS|Viral Infections, Central Nervous System Nervous system disease|Viral disease Central precocious puberty 2 MESH:C000726751 MESH:D011629 C19.391.693/C000726751 C19.391.693 Endocrine system disease Central Serous Chorioretinopathy MESH:D056833 A visual impairment characterized by the accumulation of fluid under the retina through a defect in the retinal pigment epithelium. MESH:D012164 C11.768.175 C11.768 Central Serous Chorioretinopathies|Central Serous Retinopathies|Central Serous Retinopathy|Chorioretinopathies, Central Serous|Chorioretinopathy, Central Serous|Retinopathies, Central Serous|Retinopathy, Central Serous|Serous Chorioretinopathies, Central|Serous Chorioretinopathy, Central|Serous Retinopathies, Central|Serous Retinopathy, Central Eye disease Cephalin Lipidosis MESH:C565872 MESH:D008064|MESH:D008607 C10.597.606.360/C565872|C16.320.565.398.641/C565872|C18.452.584.563.641/C565872|C18.452.648.398.641/C565872|C23.888.592.604.646/C565872|F03.625.539/C565872 C10.597.606.360|C16.320.565.398.641|C18.452.584.563.641|C18.452.648.398.641|C23.888.592.604.646|F03.625.539 Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Cephalopelvic Disproportion MESH:D052178 A condition in which the HEAD of the FETUS is larger than the mother's PELVIS through which the fetal head must pass during a vaginal delivery. MESH:D007744 C12.050.703.420.235 C12.050.703.420 Disproportion, Cephalopelvic Pregnancy complication Cerebellar Ataxia MESH:D002524 DO:DOID:0050753 Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90) MESH:D001259|MESH:D002526 C10.228.140.252.190|C10.597.350.090.500|C23.888.592.350.090.200 C10.228.140.252|C10.597.350.090|C23.888.592.350.090 Adiadochokineses|Adiadochokinesis|Ataxia, Cerebellar|Ataxias, Cerebellar|Cerebellar Ataxias|Cerebellar Dysmetria|Cerebellar Dysmetrias|Cerebellar Hemiataxia|Cerebellar Hemiataxias|Cerebellar Incoordination|Cerebellar Incoordinations|Dysmetria|Dysmetria, Cerebellar|Dysmetrias|Dysmetrias, Cerebellar|Hemiataxia, Cerebellar|Hemiataxias, Cerebellar|Hypermetria|Hypermetrias|Incoordination, Cerebellar|Incoordinations, Cerebellar Nervous system disease|Signs and symptoms Cerebellar Ataxia and Hypergonadotropic Hypogonadism MESH:C565308 MESH:D002524|MESH:D006319|MESH:D007006 C09.218.458.341.887/C565308|C10.228.140.252.190/C565308|C10.597.350.090.500/C565308|C10.597.751.418.341.887/C565308|C19.391.482/C565308|C23.888.592.350.090.200/C565308|C23.888.592.763.393.341.887/C565308 C09.218.458.341.887|C10.228.140.252.190|C10.597.350.090.500|C10.597.751.418.341.887|C19.391.482|C23.888.592.350.090.200|C23.888.592.763.393.341.887 Ear-nose-throat disease|Endocrine system disease|Nervous system disease|Signs and symptoms Cerebellar Ataxia and Hypogonadotropic Hypogonadism MESH:C565870 DO:DOID:0111587|OMIM:212840 MESH:D002524|MESH:D007006 C10.228.140.252.190/C565870|C10.597.350.090.500/C565870|C19.391.482/C565870|C23.888.592.350.090.200/C565870 C10.228.140.252.190|C10.597.350.090.500|C19.391.482|C23.888.592.350.090.200 CAHH|CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM|GDHS|Gordon Holmes Syndrome|LHRH Deficiency and Ataxia|Luteinizing Hormone-Releasing Hormone, Deficiency of, with Ataxia Endocrine system disease|Nervous system disease|Signs and symptoms Cerebellar Ataxia and Neurosensory Deafness MESH:C565869 MESH:D002524|MESH:D006319 C09.218.458.341.887/C565869|C10.228.140.252.190/C565869|C10.597.350.090.500/C565869|C10.597.751.418.341.887/C565869|C23.888.592.350.090.200/C565869|C23.888.592.763.393.341.887/C565869 C09.218.458.341.887|C10.228.140.252.190|C10.597.350.090.500|C10.597.751.418.341.887|C23.888.592.350.090.200|C23.888.592.763.393.341.887 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Cerebellar Ataxia, Benign, with Thermoanalgesia MESH:C565868 MESH:D002524|MESH:D020886 C10.228.140.252.190/C565868|C10.597.350.090.500/C565868|C10.597.751.791/C565868|C23.888.592.350.090.200/C565868|C23.888.592.763.770/C565868 C10.228.140.252.190|C10.597.350.090.500|C10.597.751.791|C23.888.592.350.090.200|C23.888.592.763.770 Cerebellar Ataxia with Loss of Pain and Temperature Sensation Nervous system disease|Signs and symptoms Cerebellar Ataxia, Cayman Type MESH:C563363 DO:DOID:0060694|OMIM:601238 MESH:D002524 C10.228.140.252.190/C563363|C10.597.350.090.500/C563363|C23.888.592.350.090.200/C563363 C10.228.140.252.190|C10.597.350.090.500|C23.888.592.350.090.200 ATCAY Nervous system disease|Signs and symptoms Cerebellar Ataxia, Deafness, and Narcolepsy MESH:C565825 OMIM:604121 MESH:D002524|MESH:D006319|MESH:D009290 C09.218.458.341.887/C565825|C10.228.140.252.190/C565825|C10.597.350.090.500/C565825|C10.597.751.418.341.887/C565825|C10.886.425.800.200.750/C565825|C23.888.592.350.090.200/C565825|C23.888.592.763.393.341.887/C565825|F03.870.400.800.200.750/C565825 C09.218.458.341.887|C10.228.140.252.190|C10.597.350.090.500|C10.597.751.418.341.887|C10.886.425.800.200.750|C23.888.592.350.090.200|C23.888.592.763.393.341.887|F03.870.400.800.200.750 ADCADN|CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT Ear-nose-throat disease|Mental disorder|Nervous system disease|Signs and symptoms Cerebellar ataxia ectodermal dysplasia MESH:C535350 MESH:D002524|MESH:D004476 C10.228.140.252.190/C535350|C10.597.350.090.500/C535350|C16.131.077.350/C535350|C16.131.831.350/C535350|C16.320.850.250/C535350|C17.800.804.350/C535350|C17.800.827.250/C535350|C23.888.592.350.090.200/C535350 C10.228.140.252.190|C10.597.350.090.500|C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.888.592.350.090.200 Cerebellar Ataxia and Ectodermal Dysplasia|Ectodermal dysplasia and cerebellar ataxia Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 MESH:C567656 OMIM:610185 MESH:D002524|MESH:D008607 C10.228.140.252.190/C567656|C10.597.350.090.500/C567656|C10.597.606.360/C567656|C23.888.592.350.090.200/C567656|C23.888.592.604.646/C567656|F03.625.539/C567656 C10.228.140.252.190|C10.597.350.090.500|C10.597.606.360|C23.888.592.350.090.200|C23.888.592.604.646|F03.625.539 CAMRQ2|Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 2|CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2|CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 Mental disorder|Nervous system disease|Signs and symptoms Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 MESH:C567690 OMIM:613227 MESH:D002524|MESH:D008607 C10.228.140.252.190/C567690|C10.597.350.090.500/C567690|C10.597.606.360/C567690|C23.888.592.350.090.200/C567690|C23.888.592.604.646/C567690|F03.625.539/C567690 C10.228.140.252.190|C10.597.350.090.500|C10.597.606.360|C23.888.592.350.090.200|C23.888.592.604.646|F03.625.539 CAMRQ3|Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 3|CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 3|CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 Mental disorder|Nervous system disease|Signs and symptoms CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION OMIM:616875 DO:DOID:0081276 MESH:C562568|MESH:D011596|MESH:D014786 C10.500/C562568/616875|C10.597.606.881/616875|C10.597.751.941/616875|C11.966/616875|C16.131.666/C562568/616875|C23.888.592.604.882/616875|C23.888.592.763.941/616875|F03.625.421/C562568/616875 C10.500/C562568|C10.597.606.881|C10.597.751.941|C11.966|C16.131.666/C562568|C23.888.592.604.882|C23.888.592.763.941|F03.625.421/C562568 CAVIPMR Congenital abnormality|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 OMIM:602197 MESH:D002526 C10.228.140.252/602197 C10.228.140.252 CDR3 Nervous system disease Cerebellar degeneration, subacute MESH:C535352 MESH:D002526|MESH:D009410 C10.228.140.252/C535352|C23.550.737/C535352 C10.228.140.252|C23.550.737 Subacute cerebellar degeneration Nervous system disease|Pathology (process) Cerebellar Diseases MESH:D002526 DO:DOID:2786 Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA. MESH:D001927 C10.228.140.252 C10.228.140 Cerebellar Disease|Cerebellar Disorder|Cerebellar Disorders|Cerebellar Dysfunction|Cerebellar Dysfunctions|Cerebellar Syndrome|Cerebellar Syndromes|Cerebellum Disease|Cerebellum Diseases|Disease, Cerebellar|Disease, Cerebellum|Disorder, Cerebellar|Dysfunction, Cerebellar|Syndrome, Cerebellar Nervous system disease CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES OMIM:614756 DO:DOID:0050998 MESH:D002524|MESH:D008607|MESH:D060825 C10.228.140.252.190/614756|C10.597.350.090.500/614756|C10.597.606.360/614756|C23.888.592.350.090.200/614756|C23.888.592.604.646/614756|F03.615.250.700/614756|F03.625.539/614756 C10.228.140.252.190|C10.597.350.090.500|C10.597.606.360|C23.888.592.350.090.200|C23.888.592.604.646|F03.615.250.700|F03.625.539 CANPMR|CECBA|CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION Mental disorder|Nervous system disease|Signs and symptoms Cerebellar Granule Cell Hypertrophy and Megalencephaly MESH:C563565 MESH:D006223|MESH:D065703 C04.445.435/C563565|C04.651.435/C563565|C04.700.435/C563565|C10.500.507.400/C563565|C16.131.666.507.400/C563565|C16.320.700.435/C563565 C04.445.435|C04.651.435|C04.700.435|C10.500.507.400|C16.131.666.507.400|C16.320.700.435 Cancer|Congenital abnormality|Genetic disease (inborn)|Nervous system disease Cerebellar Hypoplasia MESH:C562568 DO:DOID:0070338 MESH:D002658|MESH:D009421 C10.500/C562568|C16.131.666/C562568|F03.625.421/C562568 C10.500|C16.131.666|F03.625.421 Congenital abnormality|Mental disorder|Nervous system disease Cerebellar hypoplasia with endosteal sclerosis MESH:C535353 MESH:D002524|MESH:D010026 C05.116.099.708.702/C535353|C10.228.140.252.190/C535353|C10.597.350.090.500/C535353|C23.888.592.350.090.200/C535353 C05.116.099.708.702|C10.228.140.252.190|C10.597.350.090.500|C23.888.592.350.090.200 Musculoskeletal disease|Nervous system disease|Signs and symptoms Cerebellar Neoplasms MESH:D002528 DO:DOID:4205 Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141) MESH:D002526|MESH:D015192 C04.588.614.250.195.411.211|C10.228.140.211.500.200|C10.228.140.252.200|C10.551.240.250.400.300 C04.588.614.250.195.411|C10.228.140.211.500|C10.228.140.252|C10.551.240.250.400 Benign Cerebellar Neoplasm|Benign Cerebellar Neoplasms|Cancer, Cerebellar|Cerebellar Cancer|Cerebellar Cancers|Cerebellar Neoplasm|Cerebellar Neoplasm, Benign|Cerebellar Neoplasm, Malignant|Cerebellar Neoplasm, Primary|Cerebellar Neoplasms, Benign|Cerebellar Neoplasms, Malignant|Cerebellar Neoplasms, Primary|Cerebellar Tumor|Cerebellar Tumors|Cerebellum Primary Neoplasm|Cerebellum Primary Neoplasms|Malignant Cerebellar Neoplasm|Malignant Cerebellar Neoplasms|Neoplasm, Benign Cerebellar|Neoplasm, Cerebellar|Neoplasm, Cerebellum Primary|Neoplasm, Malignant Cerebellar|Neoplasms, Cerebellar|Neoplasms, Cerebellar, Benign|Neoplasms, Cerebellar, Malignant|Neoplasms, Cerebellar, Primary|Primary Cerebellar Neoplasm|Primary Cerebellar Neoplasms|Primary Neoplasm, Cerebellum|Primary Neoplasms, Cerebellum|Tumor, Cerebellar Cancer|Nervous system disease Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome MESH:C565867 MESH:D002526|MESH:D004677|MESH:D007690|MESH:D008588|MESH:D019082 C10.228.140.252/C565867|C10.500.680.488/C565867|C10.500.680.598/C565867|C12.050.351.968.419.403.875/C565867|C12.200.777.419.403.875/C565867|C12.950.419.403.875/C565867|C16.131.077.717/C565867|C16.131.077.860/C565867|C16.131.666.680.488/C565867|C16.131.666.680.598/C565867|C16.320.184.625/C565867|C16.320.565.398.850/C565867|C16.320.565.925.875/C565867|C18.452.584.500.937/C565867|C18.452.584.563.850/C565867|C18.452.648.398.850/C565867|C18.452.648.925.875/C565867|C23.300.707.186/C565867|C23.300.707.968/C565867 C10.228.140.252|C10.500.680.488|C10.500.680.598|C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.717|C16.131.077.860|C16.131.666.680.488|C16.131.666.680.598|C16.320.184.625|C16.320.565.398.850|C16.320.565.925.875|C18.452.584.500.937|C18.452.584.563.850|C18.452.648.398.850|C18.452.648.925.875|C23.300.707.186|C23.300.707.968 Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) CEREBELLOFACIODENTAL SYNDROME OMIM:616202 MESH:D002524|MESH:D002658|MESH:D008607|MESH:D014076|MESH:D019066 C07.793/616202|C10.228.140.252.190/616202|C10.597.350.090.500/616202|C10.597.606.360/616202|C23.550.291.812/616202|C23.888.592.350.090.200/616202|C23.888.592.604.646/616202|F03.625.421/616202|F03.625.539/616202 C07.793|C10.228.140.252.190|C10.597.350.090.500|C10.597.606.360|C23.550.291.812|C23.888.592.350.090.200|C23.888.592.604.646|F03.625.421|F03.625.539 CEREBELLAR-FACIAL-DENTAL SYNDROME|CFDS Mental disorder|Mouth disease|Nervous system disease|Pathology (process)|Signs and symptoms Cerebelloparenchymal Disorder II MESH:C565866 MESH:D002524 C10.228.140.252.190/C565866|C10.597.350.090.500/C565866|C23.888.592.350.090.200/C565866 C10.228.140.252.190|C10.597.350.090.500|C23.888.592.350.090.200 Cpd, Late-Onset Recessive Type Nervous system disease|Signs and symptoms Cerebelloparenchymal Disorder VI MESH:C563564 MESH:D002526|MESH:D006223 C04.445.435/C563564|C04.651.435/C563564|C04.700.435/C563564|C10.228.140.252/C563564|C16.320.700.435/C563564 C04.445.435|C04.651.435|C04.700.435|C10.228.140.252|C16.320.700.435 Cancer|Genetic disease (inborn)|Nervous system disease Cerebral Amyloid Angiopathy MESH:D016657 A heterogeneous group of sporadic or familial disorders characterized by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES. Clinical features include multiple, small lobar CEREBRAL HEMORRHAGE; cerebral ischemia (BRAIN ISCHEMIA); and CEREBRAL INFARCTION. Cerebral amyloid angiopathy is unrelated to generalized AMYLOIDOSIS. Amyloidogenic peptides in this condition are nearly always the same ones found in ALZHEIMER DISEASE. (from Kumar: Robbins and Cotran: Pathologic Basis of Disease, 7th ed., 2005) MESH:D000686|MESH:D002539 C10.228.140.300.510.200.200|C14.907.253.560.200.200|C18.452.845.500.100 C10.228.140.300.510.200|C14.907.253.560.200|C18.452.845.500 Amyloid Angiopathy, Cerebral|Angiopathy, Cerebral Amyloid|Angiopathy, Congophilic|Cerebral Amyloid Angiopathies|Congophilic Angiopathies|Congophilic Angiopathy|Sporadic Cerebral Amyloid Angiopathy Cardiovascular disease|Metabolic disease|Nervous system disease Cerebral Amyloid Angiopathy, Familial MESH:D028243 DO:DOID:9246|OMIM:105150 A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES. MESH:D016657|MESH:D020739|MESH:D028226|MESH:D059345 C10.228.140.163.100.168|C10.228.140.300.275.311|C10.228.140.300.510.200.200.160|C14.907.253.329.311|C14.907.253.560.200.200.160|C16.320.565.176.160|C16.320.565.189.168|C18.452.132.100.168|C18.452.648.176.160|C18.452.648.189.168|C18.452.845.500.075.160|C18.452.845.500.100.160 C10.228.140.163.100|C10.228.140.300.275|C10.228.140.300.510.200.200|C14.907.253.329|C14.907.253.560.200.200|C16.320.565.176|C16.320.565.189|C18.452.132.100|C18.452.648.176|C18.452.648.189|C18.452.845.500.075|C18.452.845.500.100 Amyloidosis, Cerebroarterial, Icelandic Type|Amyloidosis, Icelandic Type|Amyloidosis VI|Amyloidosis VIs|Autosomal Dominant Cerebrovascular Amyloidosis|Cerebral Amyloid Angiopathy, Cst3 Related|Cerebral Amyloid Angiopathy, Cst3-Related|Cerebral Amyloid Angiopathy, Genetic|Cerebral Amyloid Angiopathy, Hereditary|Cerebral Hemorrhage, Hereditary, With Amyloidosis|Familial Cerebral Amyloid Angiopathy|HCHWA|Hereditary Cerebral Amyloid Angiopathy|Hereditary Cerebral Amyloid Angiopathy, Icelandic Type|Hereditary Cerebral Hemorrhage With Amyloidosis|Icelandic Type Amyloidosis|Icelandic Type Hereditary Cerebral Amyloid Angiopathy Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 OMIM:176500 DO:DOID:0070029 MESH:D003704|MESH:D028227 C10.228.140.380/176500|C10.574.500.050/176500|C10.668.829.050.050/176500|C16.320.400.050/176500|C16.320.565.176.050/176500|C18.452.648.176.050/176500|C18.452.845.500.050.050/176500|C18.452.845.500.075.050/176500|F03.615.400/176500 C10.228.140.380|C10.574.500.050|C10.668.829.050.050|C16.320.400.050|C16.320.565.176.050|C18.452.648.176.050|C18.452.845.500.050.050|C18.452.845.500.075.050|F03.615.400 CEREBRAL AMYLOID ANGIOPATHY, BRITISH TYPE|DEMENTIA, FAMILIAL BRITISH|FBD|PRESENILE DEMENTIA WITH SPASTIC ATAXIA Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease Cerebral Angiopathy, Dysphoric MESH:C565864 MESH:D059345 C10.228.140.300.275/C565864|C14.907.253.329/C565864 C10.228.140.300.275|C14.907.253.329 Cardiovascular disease|Nervous system disease Cerebral Arterial Diseases MESH:D002539 DO:DOID:3527 Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY. MESH:D020765 C10.228.140.300.510.200|C14.907.253.560.200 C10.228.140.300.510|C14.907.253.560 Arterial Disease, Cerebral|Arterial Diseases, Cerebral|Artery Disease, Cerebral|Artery Diseases, Cerebral|Cerebral Arterial Disease|Cerebral Artery Disease|Cerebral Artery Diseases|Disease, Cerebral Arterial|Disease, Cerebral Artery|Diseases, Cerebral Arterial|Diseases, Cerebral Artery Cardiovascular disease|Nervous system disease CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY OMIM:600142 DO:DOID:13945 MESH:D046589 C10.228.140.300.150.477.200.100/600142|C10.228.140.300.275.249/600142|C10.228.140.300.400.203/600142|C10.228.140.300.510.200.175/600142|C10.228.140.300.775.200.200.100/600142|C10.228.140.380.230.124/600142|C14.907.253.092.477.200.100/600142|C14.907.253.329.249/600142|C14.907.253.560.200.175/600142|C14.907.253.855.200.200.100/600142|C16.320.129/600142|C23.550.513.355.250.200.100/600142|C23.550.717.489.250.200.100/600142 C10.228.140.300.150.477.200.100|C10.228.140.300.275.249|C10.228.140.300.400.203|C10.228.140.300.510.200.175|C10.228.140.300.775.200.200.100|C10.228.140.380.230.124|C14.907.253.092.477.200.100|C14.907.253.329.249|C14.907.253.560.200.175|C14.907.253.855.200.200.100|C16.320.129|C23.550.513.355.250.200.100|C23.550.717.489.250.200.100 CARASIL|CEREBROVASCULAR DISEASE WITH THIN SKIN, ALOPECIA, AND DISC DISEASE|MAEDA SYNDROME|SUBCORTICAL VASCULAR ENCEPHALOPATHY, PROGRESSIVE Cardiovascular disease|Genetic disease (inborn)|Nervous system disease|Pathology (process) Cerebral astrocytoma, adult MESH:C535354 MESH:D001254|MESH:D001932 C04.557.465.625.600.380.080/C535354|C04.557.470.670.380.080/C535354|C04.557.580.625.600.380.080/C535354|C04.588.614.250.195/C535354|C10.228.140.211/C535354|C10.551.240.250/C535354 C04.557.465.625.600.380.080|C04.557.470.670.380.080|C04.557.580.625.600.380.080|C04.588.614.250.195|C10.228.140.211|C10.551.240.250 Adult cerebral astrocytoma Cancer|Nervous system disease Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy MESH:C563990 MESH:D000505|MESH:D002544|MESH:D013122|MESH:D056784 C05.116.900/C563990|C10.228.140.300.150.477.200/C563990|C10.228.140.300.775.200.200/C563990|C10.228.140.695/C563990|C14.907.253.092.477.200/C563990|C14.907.253.855.200.200/C563990|C17.800.329.937.122/C563990|C23.300.035/C563990|C23.550.513.355.250.200/C563990|C23.550.717.489.250.200/C563990 C05.116.900|C10.228.140.300.150.477.200|C10.228.140.300.775.200.200|C10.228.140.695|C14.907.253.092.477.200|C14.907.253.855.200.200|C17.800.329.937.122|C23.300.035|C23.550.513.355.250.200|C23.550.717.489.250.200 CARASIL|Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease|Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago without Arterial Hypertension|MAEDA Syndrome|Nemoto Disease|Subcortical Vascular Encephalopathy, Progressive Cardiovascular disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Skin disease Cerebral Cavernous Malformations 2 MESH:C566394 OMIM:603284 MESH:D008607|MESH:D008844 C05.500.460.457/C566394|C05.660.207.540.460.457/C566394|C07.320.440.457/C566394|C07.650.500.460.457/C566394|C10.597.606.360/C566394|C16.131.621.207.540.460.457/C566394|C16.131.850.500.460.457/C566394|C23.888.592.604.646/C566394|F03.625.539/C566394 C05.500.460.457|C05.660.207.540.460.457|C07.320.440.457|C07.650.500.460.457|C10.597.606.360|C16.131.621.207.540.460.457|C16.131.850.500.460.457|C23.888.592.604.646|F03.625.539 CCM2 Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Cerebral Cavernous Malformations 3 MESH:C566393 OMIM:603285 MESH:D008607|MESH:D008844 C05.500.460.457/C566393|C05.660.207.540.460.457/C566393|C07.320.440.457/C566393|C07.650.500.460.457/C566393|C10.597.606.360/C566393|C16.131.621.207.540.460.457/C566393|C16.131.850.500.460.457/C566393|C23.888.592.604.646/C566393|F03.625.539/C566393 C05.500.460.457|C05.660.207.540.460.457|C07.320.440.457|C07.650.500.460.457|C10.597.606.360|C16.131.621.207.540.460.457|C16.131.850.500.460.457|C23.888.592.604.646|F03.625.539 CCM3 Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Cerebral Cortical Thinning MESH:D000082643 Decrease in CEREBRAL CORTICAL THICKNESS. MESH:D009461|MESH:D020763 C10.597.210|C23.300.220|C23.888.592.206 C10.597|C23.300|C23.888.592 Cortical Thinning|Cortical Thinning, Cerebral|Thinning, Cerebral Cortical|Thinning, Cortical Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome MESH:C537943 DO:DOID:0060337|OMIM:609528 MESH:D007645|MESH:D020752 C10.562/C537943|C16.131.077.350.712/C537943|C16.131.831.350.712/C537943|C16.320.850.250.712/C537943|C16.320.850.475/C537943|C17.800.428.435/C537943|C17.800.804.350.712/C537943|C17.800.827.250.712/C537943|C17.800.827.475/C537943 C10.562|C16.131.077.350.712|C16.131.831.350.712|C16.320.850.250.712|C16.320.850.475|C17.800.428.435|C17.800.804.350.712|C17.800.827.250.712|C17.800.827.475 CEDNIK|CEDNIK syndrome Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease Cerebral Hemorrhage MESH:D002543 OMIM:614519 Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA. MESH:D020300 C10.228.140.300.535.200|C14.907.253.573.200|C23.550.414.913.100 C10.228.140.300.535|C14.907.253.573|C23.550.414.913 Brain Hemorrhage, Cerebral|Brain Hemorrhages, Cerebral|Cerebral Brain Hemorrhage|Cerebral Brain Hemorrhages|Cerebral Hemorrhages|Cerebral Parenchymal Hemorrhage|Cerebral Parenchymal Hemorrhages|Cerebrum Hemorrhage|Cerebrum Hemorrhages|Hemorrhage, Cerebral|Hemorrhage, Cerebral Brain|Hemorrhage, Cerebral Parenchymal|Hemorrhage, Cerebrum|Hemorrhage, Intracerebral|HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO|Hemorrhages, Cerebral|Hemorrhages, Cerebral Brain|Hemorrhages, Cerebral Parenchymal|Hemorrhages, Cerebrum|Hemorrhages, Intracerebral|ICH|Intracerebral Hemorrhage|Intracerebral Hemorrhages|Parenchymal Hemorrhage, Cerebral|Parenchymal Hemorrhages, Cerebral|STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO Cardiovascular disease|Nervous system disease|Pathology (process) Cerebral Hemorrhage, Traumatic MESH:D020202 Bleeding into one or both CEREBRAL HEMISPHERES due to TRAUMA. Hemorrhage may involve any part of the CEREBRAL CORTEX and the BASAL GANGLIA. Depending on the severity of bleeding, clinical features may include SEIZURES; APHASIA; VISION DISORDERS; MOVEMENT DISORDERS; PARALYSIS; and COMA. MESH:D002543|MESH:D020201 C10.228.140.199.275.300|C10.228.140.300.535.200.200|C10.228.140.300.535.450.200.750|C10.900.300.087.187.300|C10.900.300.837.150.650|C14.907.253.573.200.200|C14.907.253.573.400.150.300|C26.915.300.200.175.300|C26.915.300.490.150.300 C10.228.140.199.275|C10.228.140.300.535.200|C10.228.140.300.535.450.200|C10.900.300.087.187|C10.900.300.837.150|C14.907.253.573.200|C14.907.253.573.400.150|C26.915.300.200.175|C26.915.300.490.150 Brain Hemorrhage, Cerebral, Traumatic|Cerebral Hematomas, Traumatic|Cerebral Hematoma, Traumatic|Cerebral Hemorrhages, Traumatic|Cerebral Intraparenchymal Hematoma, Traumatic|Cerebral Intraparenchymal Hemorrhage, Traumatic|Cerebral Parenchymal Hemorrhage, Traumatic|Hematomas, Traumatic Cerebral|Hematoma, Traumatic Cerebral|Hemorrhages, Traumatic Cerebral|Hemorrhages, Traumatic Intracerebral|Hemorrhage, Traumatic Cerebral|Hemorrhage, Traumatic Intracerebral|Intracerebral Hemorrhages, Traumatic|Intracerebral Hemorrhage, Traumatic|Traumatic Cerebral Hematoma|Traumatic Cerebral Hematomas|Traumatic Cerebral Hemorrhage|Traumatic Cerebral Hemorrhages|Traumatic Cerebral Intraparenchymal Hematoma|Traumatic Cerebral Intraparenchymal Hemorrhage|Traumatic Cerebral Parenchymal Hemorrhage|Traumatic Intracerebral Hemorrhage|Traumatic Intracerebral Hemorrhages Cardiovascular disease|Nervous system disease|Wounds and injuries Cerebral Infarction MESH:D002544 DO:DOID:3526 The formation of an area of NECROSIS in the CEREBRUM caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction). MESH:D020520 C10.228.140.300.150.477.200|C10.228.140.300.775.200.200|C14.907.253.092.477.200|C14.907.253.855.200.200|C23.550.513.355.250.200|C23.550.717.489.250.200 C10.228.140.300.150.477|C10.228.140.300.775.200|C14.907.253.092.477|C14.907.253.855.200|C23.550.513.355.250|C23.550.717.489.250 Anterior Choroidal Artery Infarction|Cerebral Infarct|Cerebral Infarction, Left Hemisphere|Cerebral Infarction, Right Hemisphere|Cerebral Infarctions|Cerebral Infarcts|Cerebral, Left Hemisphere, Infarction|Cerebral, Right Hemisphere, Infarction|Infarct, Cerebral|Infarction, Cerebral|Infarction, Cerebral, Left Hemisphere|Infarction, Cerebral, Right Hemisphere|Infarction, Left Hemisphere, Cerebral|Infarction, Right Hemisphere, Cerebral|Infarctions, Cerebral|Infarctions, Subcortical|Infarction, Subcortical|Infarcts, Cerebral|Left Hemisphere, Cerebral Infarction|Left Hemisphere, Infarction, Cerebral|Posterior Choroidal Artery Infarction|Right Hemisphere, Cerebral Infarction|Right Hemisphere, Infarction, Cerebral|Subcortical Infarction|Subcortical Infarctions Cardiovascular disease|Nervous system disease|Pathology (process) Cerebral Intraventricular Hemorrhage MESH:D000074042 Bleeding within the CEREBRAL VENTRICLES. It is associated with intraventricular trauma, aneurysm, vascular malformations, hypertension and in VERY LOW BIRTH WEIGHT infants. MESH:D002543 C10.228.140.300.535.200.600|C14.907.253.573.200.600|C23.550.414.913.100.600 C10.228.140.300.535.200|C14.907.253.573.200|C23.550.414.913.100 Cerebral Intraventricular Haemorrhage|Cerebral Intraventricular Haemorrhages|Cerebral Intraventricular Hemorrhages|Haemorrhage, Cerebral Intraventricular|Hemorrhage, Cerebral Intraventricular|Intraventricular Haemorrhage, Cerebral|Intraventricular Haemorrhages, Cerebral|Intraventricular Hemorrhage, Cerebral Cardiovascular disease|Nervous system disease|Pathology (process) Cerebral Palsy MESH:D002547 DO:DOID:10965|DO:DOID:10968|DO:DOID:10970|DO:DOID:1969 A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7) MESH:D001925 C10.228.140.140.254 C10.228.140.140 Athetoid Cerebral Palsy|Atonic Cerebral Palsy|Cerebral Palsies, Athetoid|Cerebral Palsies, Dyskinetic|Cerebral Palsies, Dystonic-Rigid|Cerebral Palsies, Monoplegic|Cerebral Palsy, Athetoid|Cerebral Palsy, Atonic|Cerebral Palsy, Congenital|Cerebral Palsy, Diplegic, Infantile|Cerebral Palsy, Dyskinetic|Cerebral Palsy, Dystonic Rigid|Cerebral Palsy, Dystonic-Rigid|Cerebral Palsy, Hypotonic|Cerebral Palsy, Mixed|Cerebral Palsy, Monoplegic|Cerebral Palsy, Monoplegic, Infantile|Cerebral Palsy, Quadriplegic, Infantile|Cerebral Palsy, Rolandic Type|Cerebral Palsy, Spastic|Congenital Cerebral Palsy|CP (Cerebral Palsy)|Diplegia, Spastic|Diplegias, Spastic|Diplegic Infantile Cerebral Palsy|Dyskinetic Cerebral Palsy|Dystonic-Rigid Cerebral Palsies|Dystonic-Rigid Cerebral Palsy|Hypotonic Cerebral Palsies|Hypotonic Cerebral Palsy|Infantile Cerebral Palsy, Diplegic|Infantile Cerebral Palsy, Monoplegic|Infantile Cerebral Palsy, Quadriplegic|Little Disease|Little's Disease|Mixed Cerebral Palsies|Mixed Cerebral Palsy|Monoplegic Cerebral Palsies|Monoplegic Cerebral Palsy|Monoplegic Infantile Cerebral Palsy|Quadriplegic Infantile Cerebral Palsy|Rolandic Type Cerebral Palsy|Spastic Cerebral Palsies|Spastic Cerebral Palsy|Spastic Diplegia|Spastic Diplegias Nervous system disease Cerebral Palsy, Ataxic, Autosomal Recessive MESH:C562856 OMIM:605388 MESH:D001259|MESH:D002547|MESH:D030342 C10.228.140.140.254/C562856|C10.597.350.090/C562856|C16.320/C562856|C23.888.592.350.090/C562856 C10.228.140.140.254|C10.597.350.090|C16.320|C23.888.592.350.090 ACP|Ataxic Cerebral Palsy Genetic disease (inborn)|Nervous system disease|Signs and symptoms Cerebral palsy, spastic, diplegic MESH:C537945 MESH:D002547 C10.228.140.140.254/C537945 C10.228.140.140.254 Spastic diplegia cerebral palsy Nervous system disease Cerebral Palsy, Spastic Quadriplegic, 1 MESH:C567853 MESH:D002547 C10.228.140.140.254/C567853 C10.228.140.140.254 Nervous system disease Cerebral Palsy, Spastic Quadriplegic, 2 MESH:C567867 OMIM:612900 MESH:D002547 C10.228.140.140.254/C567867 C10.228.140.140.254 CPSQ2 Nervous system disease CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 OMIM:617008 DO:DOID:0081361 MESH:D002547 C10.228.140.140.254/617008 C10.228.140.140.254 CPSQ3 Nervous system disease Cerebral Phaeohyphomycosis MESH:D060425 CNS infections caused by neurotropic dematiaceous fungi that contain melanin in their cell walls. The infections often result in BRAIN ABSCESS; ENCEPHALITIS; and MENINGITIS in patients who are often immunocompetent. The common causative fungi include members Cladophialophora bantiana, Exophiala dermatitidis, Rhinocladiella mackenziei, and Ochroconis gallopavum. R. mackenziei infection is seen almost exclusively in patients from the MIDDLE EAST. MESH:D060605 C01.150.703.302.383.375|C01.800.200.383.375|C17.800.838.208.416.375 C01.150.703.302.383|C01.800.200.383|C17.800.838.208.416 Central Nervous System Phaeohyphomycosis|Central Nervous System Phaeohyphomycosis, Primary|Phaeohyphomycosis, Central Nervous System|Phaeohyphomycosis, Central Nervous System, Primary|Primary Central Nervous System Phaeohyphomycosis Bacterial infection or mycosis|Skin disease Cerebral sarcoma MESH:C537946 MESH:D001932|MESH:D012509 C04.557.450.795/C537946|C04.588.614.250.195/C537946|C10.228.140.211/C537946|C10.551.240.250/C537946 C04.557.450.795|C04.588.614.250.195|C10.228.140.211|C10.551.240.250 Familial cerebral sarcomas Cancer|Nervous system disease Cerebral Sclerosis, Diffuse, Scholz Type MESH:C564449 MESH:D007966 C10.228.140.163.100.362.550/C564449|C10.228.140.163.100.435.825.850.500/C564449|C10.228.140.695.625.550/C564449|C10.314.400.550/C564449|C16.320.565.189.362.550/C564449|C16.320.565.189.435.825.850.500/C564449|C16.320.565.398.641.803.925.500/C564449|C16.320.565.595.554.825.850.500/C564449|C18.452.132.100.362.550/C564449|C18.452.132.100.435.825.850.500/C564449|C18.452.584.563.641.803.925.500/C564449|C18.452.648.189.362.550/C564449|C18.452.648.189.435.825.850.500/C564449|C18.452.648.398.641.803.925.500/C564449|C18.452.648.595.554.825.850.500/C564449 C10.228.140.163.100.362.550|C10.228.140.163.100.435.825.850.500|C10.228.140.695.625.550|C10.314.400.550|C16.320.565.189.362.550|C16.320.565.189.435.825.850.500|C16.320.565.398.641.803.925.500|C16.320.565.595.554.825.850.500|C18.452.132.100.362.550|C18.452.132.100.435.825.850.500|C18.452.584.563.641.803.925.500|C18.452.648.189.362.550|C18.452.648.189.435.825.850.500|C18.452.648.398.641.803.925.500|C18.452.648.595.554.825.850.500 Genetic disease (inborn)|Metabolic disease|Nervous system disease Cerebral Small Vessel Diseases MESH:D059345 Pathological processes or diseases where cerebral MICROVESSELS show abnormalities. They are often associated with aging, hypertension and risk factors for lacunar infarcts (see LACUNAR INFARCTION); LEUKOARAIOSIS; and CEREBRAL HEMORRHAGE. MESH:D002561 C10.228.140.300.275|C14.907.253.329 C10.228.140.300|C14.907.253 Cerebral Microangiopathies|Cerebral Microangiopathy|Cerebral Small Vessel Disease|Microangiopathies, Cerebral|Microangiopathy, Cerebral Cardiovascular disease|Nervous system disease Cerebral Ventricle Neoplasms MESH:D002551 DO:DOID:3541 Neoplasms located in the brain ventricles, including the two lateral, the third, and the fourth ventricle. Ventricular tumors may be primary (e.g., CHOROID PLEXUS NEOPLASMS and GLIOMA, SUBEPENDYMAL), metastasize from distant organs, or occur as extensions of locally invasive tumors from adjacent brain structures. MESH:D001932 C04.588.614.250.195.205|C10.228.140.211.280|C10.551.240.250.200 C04.588.614.250.195|C10.228.140.211|C10.551.240.250 Brain Ventricular Neoplasm|Brain Ventricular Neoplasms|Brain Ventricular Tumor|Brain Ventricular Tumors|Cerebral Ventricle Neoplasm|Cerebral Ventricle Tumor|Cerebral Ventricle Tumors|Cerebroventricular Neoplasm|Cerebroventricular Neoplasms|Intraventricular Neoplasm|Intraventricular Neoplasms|Neoplasm, Brain Ventricular|Neoplasm, Cerebral Ventricle|Neoplasm, Cerebroventricular|Neoplasm, Intraventricular|Neoplasms, Brain Ventricular|Neoplasms, Cerebral Ventricle|Neoplasms, Cerebroventricular|Neoplasms, Intraventricular|Neoplasms, Ventricular, Brain|Tumor, Brain Ventricular|Tumor, Cerebral Ventricle|Tumors, Brain Ventricular|Tumors, Cerebral Ventricle|Ventricle Tumor, Cerebral|Ventricle Tumors, Cerebral|Ventricular Neoplasm, Brain|Ventricular Neoplasms, Brain|Ventricular Tumor, Brain|Ventricular Tumors, Brain Cancer|Nervous system disease Cerebral Ventriculitis MESH:D058565 Inflammation of CEREBRAL VENTRICLES. MESH:D004660|MESH:D020805 C01.207.245.169|C10.228.140.430.249|C10.228.228.245.169|C10.586.250.249 C01.207.245|C10.228.140.430|C10.228.228.245|C10.586.250 Cerebral Ventriculitides|Infectious Ventriculitides|Infectious Ventriculitis|Ventriculitides, Cerebral|Ventriculitides, Infectious|Ventriculitis, Cerebral|Ventriculitis, Infectious Nervous system disease Cerebrocortical Degeneration of Infancy MESH:C565863 MESH:D020271 C10.574.500/C565863|C16.320.400/C565863 C10.574.500|C16.320.400 Genetic disease (inborn)|Nervous system disease Cerebrocostomandibular Syndrome MESH:C562538 DO:DOID:0111248|OMIM:117650 MESH:D008607|MESH:D008844 C05.500.460.457/C562538|C05.660.207.540.460.457/C562538|C07.320.440.457/C562538|C07.650.500.460.457/C562538|C10.597.606.360/C562538|C16.131.621.207.540.460.457/C562538|C16.131.850.500.460.457/C562538|C23.888.592.604.646/C562538|F03.625.539/C562538 C05.500.460.457|C05.660.207.540.460.457|C07.320.440.457|C07.650.500.460.457|C10.597.606.360|C16.131.621.207.540.460.457|C16.131.850.500.460.457|C23.888.592.604.646|F03.625.539 CCMS|CCM Syndrome|Cerebrocostomandibular-Like Syndrome|Rib Gap Defects with Micrognathia Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Cerebrofaciothoracic Dysplasia MESH:C565862 MESH:D000015|MESH:D008607 C10.597.606.360/C565862|C16.131.077/C565862|C23.888.592.604.646/C565862|F03.625.539/C565862 C10.597.606.360|C16.131.077|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms Cerebrofrontofacial Syndrome MESH:C563904 MESH:D000015|MESH:D019465 C05.660.207/C563904|C16.131.077/C563904|C16.131.621.207/C563904 C05.660.207|C16.131.077|C16.131.621.207 Congenital abnormality|Musculoskeletal disease Cerebrohepatorenal Syndrome, Variant Types MESH:C565861 MESH:D015211 C06.552.970/C565861|C10.228.140.163.100.968/C565861|C12.050.351.968.419.978/C565861|C12.200.777.419.978/C565861|C12.950.419.978/C565861|C16.131.077.970/C565861|C16.320.565.189.968/C565861|C16.320.565.663.970/C565861|C18.452.132.100.968/C565861|C18.452.648.189.968/C565861|C18.452.648.663.970/C565861 C06.552.970|C10.228.140.163.100.968|C12.050.351.968.419.978|C12.200.777.419.978|C12.950.419.978|C16.131.077.970|C16.320.565.189.968|C16.320.565.663.970|C18.452.132.100.968|C18.452.648.189.968|C18.452.648.663.970 Zellweger Syndrome, Variant Types Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Cerebrooculofacioskeletal Syndrome 1 MESH:C562434 OMIM:214150 MESH:D003057 C05.116.099.343.250/C562434|C10.574.500.362/C562434|C16.131.077.250/C562434|C16.320.240.562/C562434|C16.320.400.200/C562434|C18.452.284.250/C562434 C05.116.099.343.250|C10.574.500.362|C16.131.077.250|C16.320.240.562|C16.320.400.200|C18.452.284.250 COFS|COFS1|Cofs Syndrome|Pena-Shokeir Syndrome, Type II Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Cerebrooculofacioskeletal Syndrome 2 MESH:C565185 DO:DOID:0080912|OMIM:610756 MESH:D001176|MESH:D002386|MESH:D008607|MESH:D019465 C05.550.150/C565185|C05.651.102/C565185|C05.660.077/C565185|C05.660.207/C565185|C10.597.606.360/C565185|C11.510.245/C565185|C16.131.621.077/C565185|C16.131.621.207/C565185|C23.888.592.604.646/C565185|F03.625.539/C565185 C05.550.150|C05.651.102|C05.660.077|C05.660.207|C10.597.606.360|C11.510.245|C16.131.621.077|C16.131.621.207|C23.888.592.604.646|F03.625.539 COFS2 Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Cerebrooculofacioskeletal Syndrome 3 MESH:C565035 DO:DOID:0080913|OMIM:616570 MESH:D003057 C05.116.099.343.250/C565035|C10.574.500.362/C565035|C16.131.077.250/C565035|C16.320.240.562/C565035|C16.320.400.200/C565035|C18.452.284.250/C565035 C05.116.099.343.250|C10.574.500.362|C16.131.077.250|C16.320.240.562|C16.320.400.200|C18.452.284.250 COFS3 Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Cerebrooculofacioskeletal Syndrome 4 MESH:C565184 DO:DOID:0080914|OMIM:610758 MESH:D001176|MESH:D002386|MESH:D008607|MESH:D019465 C05.550.150/C565184|C05.651.102/C565184|C05.660.077/C565184|C05.660.207/C565184|C10.597.606.360/C565184|C11.510.245/C565184|C16.131.621.077/C565184|C16.131.621.207/C565184|C23.888.592.604.646/C565184|F03.625.539/C565184 C05.550.150|C05.651.102|C05.660.077|C05.660.207|C10.597.606.360|C11.510.245|C16.131.621.077|C16.131.621.207|C23.888.592.604.646|F03.625.539 COFS4 Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Cerebrooculonasal Syndrome MESH:C565313 MESH:D000853|MESH:D008607|MESH:D019465 C05.660.207/C565313|C10.597.606.360/C565313|C11.250.080/C565313|C16.131.384.159/C565313|C16.131.621.207/C565313|C23.888.592.604.646/C565313|F03.625.539/C565313 C05.660.207|C10.597.606.360|C11.250.080|C16.131.384.159|C16.131.621.207|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula MESH:C563731 MESH:D004677|MESH:D017880|MESH:D052177 C05.660.585/C563731|C10.500.680.488/C563731|C12.050.351.968.419.403/C563731|C12.200.777.419.403/C563731|C12.950.419.403/C563731|C16.131.621.585/C563731|C16.131.666.680.488/C563731|C23.300.707.186/C563731 C05.660.585|C10.500.680.488|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.621.585|C16.131.666.680.488|C23.300.707.186 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Cerebroretinal Microangiopathy with Calcifications and Cysts MESH:C567401 OMIM:612199|OMIM:617341 MESH:D001259|MESH:D001932|MESH:D002114|MESH:D009128|MESH:D012164|MESH:D012640|MESH:D020863|MESH:D056784 C04.588.614.250.195/C567401|C04.588.614.250.387/C567401|C05.651.512/C567401|C10.228.140.211/C567401|C10.228.140.695/C567401|C10.500.142/C567401|C10.551.240.250/C567401|C10.551.240.375/C567401|C10.597.350.090/C567401|C10.597.613.550.550/C567401|C10.597.742/C567401|C11.768/C567401|C16.131.666.142/C567401|C18.452.174.130/C567401|C23.888.592.350.090/C567401|C23.888.592.608.550.550/C567401|C23.888.592.742/C567401 C04.588.614.250.195|C04.588.614.250.387|C05.651.512|C10.228.140.211|C10.228.140.695|C10.500.142|C10.551.240.250|C10.551.240.375|C10.597.350.090|C10.597.613.550.550|C10.597.742|C11.768|C16.131.666.142|C18.452.174.130|C23.888.592.350.090|C23.888.592.608.550.550|C23.888.592.742 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1|CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2|Coats Plus Syndrome|CRMCC|CRMCC1|CRMCC2 Cancer|Congenital abnormality|Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Cerebrospinal Fluid Leak MESH:D065634 Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA). MESH:D006259|MESH:D009461 C10.597.114|C10.900.300.109|C23.888.592.114|C26.915.300.225 C10.597|C10.900.300|C23.888.592|C26.915.300 Cerebrospinal Fluid Drainage|Cerebrospinal Fluid Drainage, Post Traumatic|Cerebrospinal Fluid Drainage, Post-Traumatic|Cerebrospinal Fluid Drainages|Cerebrospinal Fluid Drainage, Spontaneous|Cerebrospinal Fluid Drainage, Traumatic|Cerebrospinal Fluid Leakage|Cerebrospinal Fluid Leakage, Post Traumatic|Cerebrospinal Fluid Leakage, Post-Traumatic|Cerebrospinal Fluid Leakages|Cerebrospinal Fluid Leakage, Spontaneous|Cerebrospinal Fluid Leakage, Traumatic|Cerebrospinal Fluid Leak, Post Traumatic|Cerebrospinal Fluid Leak, Post-Traumatic|Cerebrospinal Fluid Leaks|Cerebrospinal Fluid Leak, Spontaneous|Cerebrospinal Fluid Leak, Traumatic|Drainage, Cerebrospinal Fluid|Drainages, Cerebrospinal Fluid|Fluid Drainage, Cerebrospinal|Fluid Drainages, Cerebrospinal|Fluid Leakage, Cerebrospinal|Fluid Leakages, Cerebrospinal|Fluid Leak, Cerebrospinal|Fluid Leaks, Cerebrospinal|Leakage, Cerebrospinal Fluid|Leakages, Cerebrospinal Fluid|Leak, Cerebrospinal Fluid|Leaks, Cerebrospinal Fluid|Spinal Cerebrospinal Fluid Leak|Spinal Cerebrospinal Fluid Leak, Post Traumatic|Spinal Cerebrospinal Fluid Leak, Post-Traumatic|Spinal Cerebrospinal Fluid Leak, Spontaneous|Spinal Cerebrospinal Fluid Leak, Traumatic Nervous system disease|Signs and symptoms|Wounds and injuries Cerebrospinal Fluid Otorrhea MESH:D002558 Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71) MESH:D065634 C10.597.114.500|C10.900.300.109.500|C23.888.592.114.249|C26.915.300.225.500 C10.597.114|C10.900.300.109|C23.888.592.114|C26.915.300.225 Cerebrospinal Fluid Otorrhea, Post Traumatic|Cerebrospinal Fluid Otorrhea, Post-Traumatic|Cerebrospinal Fluid Otorrheas|Cerebrospinal Fluid Otorrhea, Spontaneous|Cerebrospinal Fluid Otorrhea, Traumatic|Cerebrospinal Otorrhea|Otorrhea, Cerebrospinal|Otorrhea, Cerebrospinal Fluid|Otorrhea, Cerebrospinal Fluid, Post-Traumatic|Otorrhea, Cerebrospinal Fluid, Spontaneous|Otorrhea, Cerebrospinal Fluid, Traumatic|Otorrhea, Post-Traumatic, Cerebrospinal Fluid|Otorrhea, Spontaneous, Cerebrospinal Fluid|Otorrhea, Traumatic Cerebrospinal Fluid|Post Traumatic Cerebrospinal Fluid Otorrhea|Post-Traumatic Cerebrospinal Fluid Otorrhea|Post Traumatic Otorrhea, Cerebrospinal Fluid|Post-Traumatic Otorrhea, Cerebrospinal Fluid|Spontaneous Cerebrospinal Fluid Otorrhea|Spontaneous Otorrhea, Cerebrospinal Fluid|Traumatic Cerebrospinal Fluid Otorrhea|Traumatic Otorrhea, Cerebrospinal Fluid Nervous system disease|Signs and symptoms|Wounds and injuries Cerebrospinal Fluid Rhinorrhea MESH:D002559 Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9) MESH:D000086722|MESH:D065634 C10.597.114.750|C10.900.300.109.750|C23.888.592.114.624|C23.888.852.834.500|C26.915.300.225.750 C10.597.114|C10.900.300.109|C23.888.592.114|C23.888.852.834|C26.915.300.225 Cerebrospinal Fluid Rhinorrhea, Post Traumatic|Cerebrospinal Fluid Rhinorrhea, Post-Traumatic|Cerebrospinal Fluid Rhinorrheas|Cerebrospinal Fluid Rhinorrhea, Spontaneous|Cerebrospinal Fluid Rhinorrhea, Traumatic|Cerebrospinal Rhinorrhea|Cerebrospinal Rhinorrheas|CSF Rhinorrhea|CSF Rhinorrheas|Post Traumatic Cerebrospinal Fluid Rhinorrhea|Post-Traumatic Cerebrospinal Fluid Rhinorrhea|Post Traumatic Rhinorrhea, Cerebrospinal Fluid|Post-Traumatic Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Cerebrospinal|Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Cerebrospinal Fluid, Post-Traumatic|Rhinorrhea, Cerebrospinal Fluid, Spontaneous|Rhinorrhea, Cerebrospinal Fluid, Traumatic|Rhinorrhea, CSF|Rhinorrhea, Post-Traumatic, Cerebrospinal Fluid|Rhinorrheas, Cerebrospinal|Rhinorrheas, Cerebrospinal Fluid|Rhinorrheas, CSF|Rhinorrhea, Spontaneous Cerebrospinal Fluid|Rhinorrhea, Traumatic Cerebrospinal Fluid|Spontaneous Cerebrospinal Fluid Rhinorrhea|Spontaneous Rhinorrhea, Cerebrospinal Fluid|Traumatic Cerebrospinal Fluid Rhinorrhea|Traumatic Rhinorrhea, Cerebrospinal Fluid Nervous system disease|Signs and symptoms|Wounds and injuries Cerebrovascular Disorders MESH:D002561 DO:DOID:6713 A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others. MESH:D001927|MESH:D014652 C10.228.140.300|C14.907.253 C10.228.140|C14.907 Brain Vascular Disorder|Brain Vascular Disorders|Cerebrovascular Disease|Cerebrovascular Diseases|Cerebrovascular Disorder|Cerebrovascular Insufficiencies|Cerebrovascular Insufficiency|Cerebrovascular Occlusion|Cerebrovascular Occlusions|Disease, Cerebrovascular|Diseases, Cerebrovascular|Insufficiencies, Cerebrovascular|Insufficiency, Cerebrovascular|Intracranial Vascular Disease|Intracranial Vascular Diseases|Intracranial Vascular Disorder|Intracranial Vascular Disorders|Occlusion, Cerebrovascular|Occlusions, Cerebrovascular|Vascular Disease, Intracranial|Vascular Diseases, Intracranial|Vascular Disorder, Brain|Vascular Disorder, Intracranial|Vascular Disorders, Brain|Vascular Disorders, Intracranial Cardiovascular disease|Nervous system disease Cerebrovascular Trauma MESH:D020214 Penetrating and nonpenetrating traumatic injuries to an extracranial or intracranial blood vessel that supplies the brain. This includes the CAROTID ARTERIES; VERTEBRAL ARTERIES; MENINGEAL ARTERIES; CEREBRAL ARTERIES; veins, and venous sinuses. MESH:D002561|MESH:D020196 C10.228.140.300.350|C10.900.250|C14.907.253.535|C26.915.200 C10.228.140.300|C10.900|C14.907.253|C26.915 Brain Injuries, Vascular|Brain Injury, Vascular|Brain Vascular Injury|Brain Vascular Trauma|Injuries, Brain Vascular|Injury, Brain Vascular|Injury, Vascular, Brain|Trauma, Cerebrovascular|Vascular Brain Injuries|Vascular Brain Injury|Vascular Injury, Brain|Vascular Trauma, Brain|Vascular Traumas, Brain Cardiovascular disease|Nervous system disease|Wounds and injuries Ceroid Lipofuscinosis, Neuronal, 1 MESH:C564953 OMIM:256730 MESH:D009472 C10.574.500.550/C564953|C16.320.400.600/C564953|C16.320.565.398.641.509/C564953|C18.452.584.563.641.509/C564953|C18.452.648.398.641.509/C564953 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 Ceroid Lipofuscinosis, Neuronal, 1, Variable Age at Onset|CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE, INCLUDED|CLN1|INCL, INCLUDED|SANTAVUORI DISEASE, INCLUDED|SANTAVUORI-HALTIA DISEASE, INCLUDED Genetic disease (inborn)|Metabolic disease|Nervous system disease Ceroid Lipofuscinosis, Neuronal, 10 MESH:C566438 OMIM:610127 MESH:D009472 C10.574.500.550/C566438|C16.320.400.600/C566438|C16.320.565.398.641.509/C566438|C18.452.584.563.641.509/C566438|C18.452.648.398.641.509/C566438 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient|CLN10|Neuronal Ceroid Lipofuscinosis, Congenital|Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency|NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED Genetic disease (inborn)|Metabolic disease|Nervous system disease CEROID LIPOFUSCINOSIS, NEURONAL, 11 OMIM:614706 DO:DOID:0110732 MESH:D009472 C10.574.500.550/614706|C16.320.400.600/614706|C16.320.565.398.641.509/614706|C18.452.584.563.641.509/614706|C18.452.648.398.641.509/614706 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 CLN11 Genetic disease (inborn)|Metabolic disease|Nervous system disease CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE) OMIM:615362 DO:DOID:0110727 MESH:D009472 C10.574.500.550/615362|C16.320.400.600/615362|C16.320.565.398.641.509/615362|C18.452.584.563.641.509/615362|C18.452.648.398.641.509/615362 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 CLN13 Genetic disease (inborn)|Metabolic disease|Nervous system disease Ceroid lipofuscinosis, neuronal 1, infantile MESH:C537948 MESH:D009472 C10.574.500.550/C537948|C16.320.400.600/C537948|C16.320.565.398.641.509/C537948|C18.452.584.563.641.509/C537948|C18.452.648.398.641.509/C537948 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 Neuronal ceroid lipofuscinosis, infantile Finnish type|Santavuori disease Genetic disease (inborn)|Metabolic disease|Nervous system disease Ceroid Lipofuscinosis, Neuronal, 2 MESH:C566857 OMIM:204500 MESH:D009472 C10.574.500.550/C566857|C16.320.400.600/C566857|C16.320.565.398.641.509/C566857|C18.452.584.563.641.509/C566857|C18.452.648.398.641.509/C566857 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset|CLN2|JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, INCLUDED|LINCL, INCLUDED Genetic disease (inborn)|Metabolic disease|Nervous system disease Ceroid lipofuscinosis, neuronal 5 MESH:C575534 OMIM:256731 MESH:D009472 C10.574.500.550/C575534|C16.320.400.600/C575534|C16.320.565.398.641.509/C575534|C18.452.584.563.641.509/C575534|C18.452.648.398.641.509/C575534 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 CEROID LIPOFUSCINOSIS, NEURONAL, 5|Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset|CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED|CLN5|Finnish VLINCL|FINNISH vLINCL, INCLUDED|Neuronal ceroid lipofuscinosis, 5|Neuronal ceroid lipofuscinosis, Finnish variant, late infantile|VLINCL Genetic disease (inborn)|Metabolic disease|Nervous system disease Ceroid Lipofuscinosis, Neuronal, 6 MESH:C566627 OMIM:601780 MESH:D009472 C10.574.500.550/C566627|C16.320.400.600/C566627|C16.320.565.398.641.509/C566627|C18.452.584.563.641.509/C566627|C18.452.648.398.641.509/C566627 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 CEROID LIPOFUSCINOSIS, NEURONAL, 6A|Ceroid Lipofuscinosis, Neuronal, 6, Variable Age At Onset|CLN6A|Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant|vLINCL Genetic disease (inborn)|Metabolic disease|Nervous system disease Ceroid Lipofuscinosis, Neuronal, 7 MESH:C563989 OMIM:610951 MESH:D009472 C10.574.500.550/C563989|C16.320.400.600/C563989|C16.320.565.398.641.509/C563989|C18.452.584.563.641.509/C563989|C18.452.648.398.641.509/C563989 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 CLN7 Genetic disease (inborn)|Metabolic disease|Nervous system disease Ceroid lipofuscinosis, neuronal 8 MESH:C537952 OMIM:600143|OMIM:610003 MESH:D009472 C10.574.500.550/C537952|C16.320.400.600/C537952|C16.320.565.398.641.509/C537952|C18.452.584.563.641.509/C537952|C18.452.648.398.641.509/C537952 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 Ceroid Lipofuscinosis, Neuronal, 8|Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant|CLN8|Epilepsy progressive with mental retardation|Epilepsy, Progressive, With Mental Retardation|EPMR|Northern epilepsy|Northern epilepsy syndrome Genetic disease (inborn)|Metabolic disease|Nervous system disease Ceroid lipofuscinosis, neuronal 9 MESH:C537953 OMIM:609055 MESH:D009472 C10.574.500.550/C537953|C16.320.400.600/C537953|C16.320.565.398.641.509/C537953|C18.452.584.563.641.509/C537953|C18.452.648.398.641.509/C537953 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 Ceroid Lipofuscinosis, Neuronal, 9|CLN9 Genetic disease (inborn)|Metabolic disease|Nervous system disease Cerulean cataract MESH:C537955 OMIM:115660 MESH:D002386 C11.510.245/C537955 C11.510.245 CATARACT 7|CATARACT 7, CERULEAN TYPE|Cataract, congenital, blue dot type 1|Cataract, Congenital, Blue Dot Type, 1|Cataract, congenital, cerulean type 1|Cataract, Congenital, Cerulean Type, 1|CCA1|CTRCT7 Eye disease Cervical Dystonia, Primary MESH:C566572 OMIM:602124 MESH:D004421 C10.597.350.300/C566572|C23.888.592.350.300/C566572 C10.597.350.300|C23.888.592.350.300 Dystonia 7, Torsion|Dystonia, Primary Cervical|DYT7|Primary adult-onset torsion dystonia|Torsion dystonia 7|Torsion dystonia, focal adult-onset|TORSION DYSTONIA, FOCAL ADULT-ONSET CERVICAL DYSTONIA, PRIMARY, INCLUDED Nervous system disease|Signs and symptoms Cervical hypertrichosis neuropathy MESH:C537956 MESH:D006983|MESH:D009477 C10.500.250/C537956|C10.574.500.493/C537956|C10.668.829.800.175/C537956|C16.131.666.310/C537956|C16.320.400.415/C537956|C17.800.329.875/C537956 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415|C17.800.329.875 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease Cervical Hypertrichosis with Underlying Kyphoscoliosis MESH:C566142 MESH:D006983|MESH:D007738|MESH:D012600 C05.116.900.800.500/C566142|C05.116.900.800.875/C566142|C17.800.329.875/C566142 C05.116.900.800.500|C05.116.900.800.875|C17.800.329.875 Hypertrichosis, Posterior Cervical, with Underlying Kyphoscoliosis Musculoskeletal disease|Skin disease Cervical ribs sprengel anomaly anal atresia urethral obstruction MESH:C538072 MESH:D000015|MESH:D001006|MESH:D014524 C06.198.050/C538072|C12.050.351.968.767.700/C538072|C12.200.777.767.700/C538072|C12.950.767.700/C538072|C16.131.077/C538072|C16.131.314.094/C538072 C06.198.050|C12.050.351.968.767.700|C12.200.777.767.700|C12.950.767.700|C16.131.077|C16.131.314.094 Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction|Cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction Congenital abnormality|Digestive system disease|Urogenital disease (female)|Urogenital disease (male) Cervical Rib Syndrome MESH:D002573 A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214) MESH:D009139|MESH:D013901 C10.668.829.550.850.200|C14.907.863.200|C16.131.621.174 C10.668.829.550.850|C14.907.863|C16.131.621 Anomalous Cervical Rib Syndrome|Cervical Rib Cervical Band Syndrome|Cervical-Rib-Cervical-Band Syndrome|Cervical Rib Syndromes|Naffziger's Syndrome|Naffziger's Syndromes|Naffziger Syndrome|Naffziger Syndromes|Syndrome, Cervical Rib|Syndrome, Cervical-Rib-Cervical-Band|Syndrome, Naffziger|Syndrome, Naffziger's|Syndromes, Cervical Rib|Syndromes, Naffziger|Syndromes, Naffziger's Cardiovascular disease|Congenital abnormality|Nervous system disease Cervical Vertebrae, Agenesis Of MESH:C562952 MESH:D004413 C05.116.099.370/C562952 C05.116.099.370 Musculoskeletal disease Cervical Vertebral Dysplasia MESH:C566140 MESH:D001848 C05.116.099/C566140 C05.116.099 Musculoskeletal disease Cestode Infections MESH:D002590 Infections with true tapeworms of the helminth subclass CESTODA. MESH:D006373 C01.610.335.190 C01.610.335 Bertielliases|Bertielliasis|Cenuriases|Cenuriasis|Cestode Infection|Coenuriases|Coenuriasis|Dipylidiases|Dipylidiasis|Infection, Cestode|Infections, Cestode|Infections, Tapeworm|Infection, Tapeworm|Raillietiniases|Raillietiniasis|Tapeworm Infection|Tapeworm Infections Parasitic disease Chagas Cardiomyopathy MESH:D002598 A disease of the CARDIAC MUSCLE developed subsequent to the initial protozoan infection by TRYPANOSOMA CRUZI. After infection, less than 10% develop acute illness such as MYOCARDITIS (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced CHAGAS DISEASE include conduction defects (HEART BLOCK) and CARDIOMEGALY. MESH:D009202|MESH:D014355 C01.610.752.300.900.200.190|C01.920.625.190|C14.280.238.190 C01.610.752.300.900.200|C01.920.625|C14.280.238 Cardiomyopathy, Chagas|Cardiomyopathy, Chagas'|Cardiovascular Trypanosomiasis|Chagas' Cardiomyopathy|Myocarditis, Chagas|Trypanosomiasis, Cardiovascular Cardiovascular disease|Parasitic disease Chagas Disease MESH:D014355 Infection with the protozoan parasite TRYPANOSOMA CRUZI, a form of TRYPANOSOMIASIS endemic in Central and South America. It is named after the Brazilian physician Carlos Chagas, who discovered the parasite. Infection by the parasite (positive serologic result only) is distinguished from the clinical manifestations that develop years later, such as destruction of PARASYMPATHETIC GANGLIA; CHAGAS CARDIOMYOPATHY; and dysfunction of the ESOPHAGUS or COLON. MESH:D000079426|MESH:D014352 C01.610.752.300.900.200|C01.920.625 C01.610.752.300.900|C01.920 American Trypanosomiasis|Chagas' Disease|Infections, Trypanosoma cruzi|Infection, Trypanosoma cruzi|South American Trypanosomiasis|Trypanosoma cruzi Infection|Trypanosoma cruzi Infections|Trypanosomiasis, American|Trypanosomiasis, South American Parasitic disease CHA heavy chain disease protein, human MESH:C483999 MESH:D006362 C15.378.147.780.490/C483999|C15.604.515.435/C483999|C20.683.780.490/C483999 C15.378.147.780.490|C15.604.515.435|C20.683.780.490 gamma heavy chain disease protein CHA, human Blood disease|Immune system disease|Lymphatic disease Chalazion MESH:D017043 DO:DOID:9903 A non-neoplastic cyst of the MEIBOMIAN GLANDS of the eyelid. MESH:D003560|MESH:D005141 C04.182.197|C11.338.300 C04.182|C11.338 Chalazia|Cyst, Meibomian|Meibomian Cyst Cancer|Eye disease Chanarin-Dorfman Syndrome MESH:C536560 OMIM:275630 MESH:D008052|MESH:D009135|MESH:D016113 C05.651/C536560|C10.668.491/C536560|C16.131.831.512.400/C536560|C16.320.565.398/C536560|C16.320.850.400/C536560|C16.614.492.400/C536560|C17.800.428.333.250/C536560|C17.800.804.512.400/C536560|C17.800.827.400/C536560|C18.452.584.563/C536560|C18.452.648.398/C536560 C05.651|C10.668.491|C16.131.831.512.400|C16.320.565.398|C16.320.850.400|C16.614.492.400|C17.800.428.333.250|C17.800.804.512.400|C17.800.827.400|C18.452.584.563|C18.452.648.398 CDS|Chanarin-Dorfman disease|DCS|Dorfman Chanarin syndrome|Dorfman-Chanarin Syndrome|Ichthyosiform erythroderma with leukocyte vacuolation|Ichthyotic neutral lipid storage disease|Neutral Lipid Storage Disease With Ichthyosis|Neutral lipid storage myopathy|NLSDI|Triglyceride Storage Disease with Ichthyosis|Triglyceride storage disease with impaired long-chain fatty acid oxidation Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Skin disease Chancre MESH:D002601 DO:DOID:4166 The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection. MESH:D013587 C01.150.252.400.794.840.500.500|C01.150.252.400.840.500.500 C01.150.252.400.794.840.500|C01.150.252.400.840.500 Bacterial infection or mycosis Chancroid MESH:D002602 DO:DOID:13778 Acute, localized autoinoculable infectious disease usually acquired through sexual contact. Caused by HAEMOPHILUS DUCREYI, it occurs endemically almost worldwide, especially in tropical and subtropical countries and more commonly in seaports and urban areas than in rural areas. MESH:D006192|MESH:D015231 C01.150.252.400.700.433.308|C01.150.252.734.201|C01.221.812.281.201|C01.778.281.201|C12.100.937.281.201 C01.150.252.400.700.433|C01.150.252.734|C01.221.812.281|C01.778.281|C12.100.937.281 Bacterial infection or mycosis Chang Davidson Carlson syndrome MESH:C538075 MESH:D007006|MESH:D012174 C11.270.684/C538075|C11.768.585.658.500/C538075|C16.320.290.684/C538075|C19.391.482/C538075 C11.270.684|C11.768.585.658.500|C16.320.290.684|C19.391.482 Endocrine system disease|Eye disease|Genetic disease (inborn) Channelopathies MESH:D053447 A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS. MESH:D010335 C23.550.177 C23.550 Channelopathy Pathology (process) Chapare hemorrhagic fever MESH:C000723468 MESH:D006478 C01.925.782.082.440/C000723468|C01.925.782.417.400/C000723468 C01.925.782.082.440|C01.925.782.417.400 Chapare virus infection Viral disease Charcot-Marie-Tooth Disease MESH:D002607 DO:DOID:0070161|DO:DOID:10595|OMIM:118200|OMIM:118220|OMIM:180800 A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343) MESH:D015417 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 Areflexic Dystasia, Hereditary|Areflexic Dystasias, Hereditary|Atrophies, Peroneal Muscular|Atrophy, Muscular, Peroneal|Atrophy, Peroneal Muscular|Charcot Marie Disease|Charcot-Marie Disease|Charcot Marie Tooth Disease|Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A|Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B|Charcot-Marie-Tooth Disease, Demyelinating, Type 1A|Charcot-Marie-Tooth Disease, Demyelinating, Type 1B|Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy|Charcot Marie Tooth Disease, Type 1A|Charcot-Marie-Tooth Disease, Type 1A|Charcot Marie Tooth Disease, Type 1B|Charcot-Marie-Tooth Disease, Type 1B|Charcot Marie Tooth Disease, Type I|Charcot-Marie-Tooth Disease, Type I|Charcot Marie Tooth Disease, Type IA|Charcot-Marie-Tooth Disease, Type IA|Charcot Marie Tooth Disease, Type IB|Charcot-Marie-Tooth Disease, Type IB|Charcot Marie Tooth Disease, Type II|Charcot-Marie-Tooth Disease, Type II|Charcot Marie Tooth Hereditary Neuropathy|Charcot-Marie-Tooth Hereditary Neuropathy|Charcot Marie Tooth Neuropathy, Type 1A|Charcot-Marie-Tooth Neuropathy, Type 1A|Charcot Marie Tooth Neuropathy, Type 1B|Charcot-Marie-Tooth Neuropathy, Type 1B|Charcot Marie Tooth Syndrome|Charcot-Marie-Tooth Syndrome|CMT1A|CMT1B|Dystasia, Hereditary Areflexic|Dystasias, Hereditary Areflexic|Hereditary Areflexic Dystasia|Hereditary Areflexic Dystasias|Hereditary Motor and Sensory Neuropathy 1A|Hereditary Motor and Sensory Neuropathy 1B|HEREDITARY MOTOR AND SENSORY NEUROPATHY I|Hereditary Motor and Sensory Neuropathy IA|Hereditary Motor And Sensory Neuropathy IB|Hereditary Motor, and Sensory Neuropathy Type I|Hereditary Motor and Sensory Neuropathy Type II|Hereditary Motor and Sensory-Neuropathy Type II|Hereditary Neuropathy, Charcot-Marie-Tooth|Hereditary Type I Motor and Sensory Neuropathy|HMN Distal Type I|HMSN1|HMSN 1A|HMSN1A|HMSN 1B|HMSN1B|HMSN I|HMSN IA|HMSN IB|HMSN II|HMSN Type I|HMSN Type II|Muscular Atrophies, Peroneal|Muscular Atrophy, Peroneal|Neuropathy, Type I Hereditary Motor and Sensory|Neuropathy, Type II Hereditary Motor and Sensory|Peroneal Muscular Atrophies|Peroneal Muscular Atrophy|Roussy Levy Disease|Roussy-Levy Disease|Roussy Levy Hereditary Areflexic Dystasia|Roussy-Levy Hereditary Areflexic Dystasia|Roussy Levy Syndrome|Roussy-Levy Syndrome|Syndrome, Charcot-Marie-Tooth|Syndrome, Roussy-Levy Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease and deafness MESH:C538078 MESH:D002607|MESH:D006319 C09.218.458.341.887/C538078|C10.500.300.200/C538078|C10.574.500.495.200/C538078|C10.597.751.418.341.887/C538078|C10.668.829.800.300.200/C538078|C16.131.666.300.200/C538078|C16.320.400.375.200/C538078|C23.888.592.763.393.341.887/C538078 C09.218.458.341.887|C10.500.300.200|C10.574.500.495.200|C10.597.751.418.341.887|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200|C23.888.592.763.393.341.887 Deafness with Charcot-Marie-Tooth Disease|Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k MESH:C564325 MESH:D002607 C10.500.300.200/C564325|C10.574.500.495.200/C564325|C10.668.829.800.300.200/C564325|C16.131.666.300.200/C564325|C16.320.400.375.200/C564325 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B OMIM:617087 DO:DOID:0111557 MESH:D002607 C10.500.300.200/617087|C10.574.500.495.200/617087|C10.668.829.800.300.200/617087|C16.131.666.300.200/617087|C16.320.400.375.200/617087 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CMT2A2B Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Disease, Axonal, Type 2a1 MESH:C566138 OMIM:118210 MESH:D002607 C10.500.300.200/C566138|C10.574.500.495.200/C566138|C10.668.829.800.300.200/C566138|C16.131.666.300.200/C566138|C16.320.400.375.200/C566138 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1|Charcot-Marie-Tooth Disease, Neuronal, Type 2a1|Charcot-Marie-Tooth Neuropathy, Type 2A1|CMT2A1|Hereditary Motor And Sensory Neuropathy IIA1|HMSN2A1|HMSN IIA1 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Disease, Axonal, Type 2A2 MESH:C563757 OMIM:609260 MESH:D002607 C10.500.300.200/C563757|C10.574.500.495.200/C563757|C10.668.829.800.300.200/C563757|C16.131.666.300.200/C563757|C16.320.400.375.200/C563757 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2|Charcot-Marie-Tooth Disease, Neuronal, Type 2A2|Charcot-Marie-Tooth Neuropathy, Type 2A2|CMT2A2|CMT2A2A|Hereditary Motor And Sensory Neuropathy IIA2|HMSN2A2|HMSN IIA2|HMSNIIA2 Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC OMIM:616924 DO:DOID:0110180 MESH:D002607 C10.500.300.200/616924|C10.574.500.495.200/616924|C10.668.829.800.300.200/616924|C16.131.666.300.200/616924|C16.320.400.375.200/616924 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2CC|CMT2CC Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L OMIM:608673 DO:DOID:0110174 MESH:D002607 C10.500.300.200/608673|C10.574.500.495.200/608673|C10.668.829.800.300.200/608673|C16.131.666.300.200/608673|C16.320.400.375.200/608673 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L|CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L|CMT2L Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Disease, Axonal, Type 2n MESH:C567653 OMIM:613287 MESH:D002607 C10.500.300.200/C567653|C10.574.500.495.200/C567653|C10.668.829.800.300.200/C567653|C16.131.666.300.200/C567653|C16.320.400.375.200/C567653 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n|Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n|CMT2N Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O OMIM:614228 DO:DOID:0110175 MESH:D002607 C10.500.300.200/614228|C10.574.500.495.200/614228|C10.668.829.800.300.200/614228|C16.131.666.300.200/614228|C16.320.400.375.200/614228 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O|CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O|CMT2O Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P OMIM:614436 DO:DOID:0110169 MESH:D002607 C10.500.300.200/614436|C10.574.500.495.200/614436|C10.668.829.800.300.200/614436|C16.131.666.300.200/614436|C16.320.400.375.200/614436 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G, FORMERLY|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P|CMT2G, FORMERLY|CMT2P Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q OMIM:615025 DO:DOID:0110170 MESH:D002607 C10.500.300.200/615025|C10.574.500.495.200/615025|C10.668.829.800.300.200/615025|C16.131.666.300.200/615025|C16.320.400.375.200/615025 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q|CMT2Q Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R OMIM:615490 DO:DOID:0110161 MESH:D002607 C10.500.300.200/615490|C10.574.500.495.200/615490|C10.668.829.800.300.200/615490|C16.131.666.300.200/615490|C16.320.400.375.200/615490 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R|CMT2R Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S OMIM:616155 DO:DOID:0110171 MESH:D002607 C10.500.300.200/616155|C10.574.500.495.200/616155|C10.668.829.800.300.200/616155|C16.131.666.300.200/616155|C16.320.400.375.200/616155 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S|CMT2S Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T OMIM:617017 DO:DOID:0110160 MESH:D002607 C10.500.300.200/617017|C10.574.500.495.200/617017|C10.668.829.800.300.200/617017|C16.131.666.300.200/617017|C16.320.400.375.200/617017 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2T|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2T|CMT2T Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U OMIM:616280 DO:DOID:0110173 MESH:D002607 C10.500.300.200/616280|C10.574.500.495.200/616280|C10.668.829.800.300.200/616280|C16.131.666.300.200/616280|C16.320.400.375.200/616280 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U|CMT2U Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V OMIM:616491 DO:DOID:0110178 MESH:D002607 C10.500.300.200/616491|C10.574.500.495.200/616491|C10.668.829.800.300.200/616491|C16.131.666.300.200/616491|C16.320.400.375.200/616491 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V|CMT2V Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W OMIM:616625 DO:DOID:0110162 MESH:D002607 C10.500.300.200/616625|C10.574.500.495.200/616625|C10.668.829.800.300.200/616625|C16.131.666.300.200/616625|C16.320.400.375.200/616625 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W|CMT2W Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X OMIM:616668 DO:DOID:0110176 MESH:D002607 C10.500.300.200/616668|C10.574.500.495.200/616668|C10.668.829.800.300.200/616668|C16.131.666.300.200/616668|C16.320.400.375.200/616668 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X|CMT2X Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y OMIM:616687 DO:DOID:0110168 MESH:D002607 C10.500.300.200/616687|C10.574.500.495.200/616687|C10.668.829.800.300.200/616687|C16.131.666.300.200/616687|C16.320.400.375.200/616687 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Y|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Y|CMT2Y Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z OMIM:616688 DO:DOID:0110181 MESH:D002607 C10.500.300.200/616688|C10.574.500.495.200/616688|C10.668.829.800.300.200/616688|C16.131.666.300.200/616688|C16.320.400.375.200/616688 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Z|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z|CMT2Z Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE OMIM:607706 MESH:C539595|MESH:D014826 C08.360.931/607706|C09.400.931/607706|C10.292.887.800/607706|C10.500.300.200/C539595/607706|C10.574.500.495.200/C539595/607706|C10.597.622.943/607706|C10.668.829.800.300.200/C539595/607706|C16.131.666.300.200/C539595/607706|C16.320.400.375.200/C539595/607706|C23.888.592.636.943/607706 C08.360.931|C09.400.931|C10.292.887.800|C10.500.300.200/C539595|C10.574.500.495.200/C539595|C10.597.622.943|C10.668.829.800.300.200/C539595|C16.131.666.300.200/C539595|C16.320.400.375.200/C539595|C23.888.592.636.943 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, AXONAL FORM|CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE|CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Respiratory tract disease|Signs and symptoms Charcot-Marie-Tooth Disease, Demyelinating, Type 1e MESH:C566136 OMIM:118300 MESH:D002607|MESH:D003638 C09.218.458.341.186/C566136|C10.500.300.200/C566136|C10.574.500.495.200/C566136|C10.597.751.418.341.186/C566136|C10.668.829.800.300.200/C566136|C16.131.666.300.200/C566136|C16.320.400.375.200/C566136|C23.888.592.763.393.341.186/C566136 C09.218.458.341.186|C10.500.300.200|C10.574.500.495.200|C10.597.751.418.341.186|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200|C23.888.592.763.393.341.186 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS|CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E|Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant|Cmt1e Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F OMIM:614895 DO:DOID:0110193 MESH:D002607 C10.500.300.200/614895|C10.574.500.495.200/614895|C10.668.829.800.300.200/614895|C16.131.666.300.200/614895|C16.320.400.375.200/614895 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CMT4F Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, dominant intermediate 1 MESH:C535399 MESH:D002607 C10.500.300.200/C535399|C10.574.500.495.200/C535399|C10.668.829.800.300.200/C535399|C16.131.666.300.200/C535399|C16.320.400.375.200/C535399 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, dominant intermediate 2 MESH:C535400 MESH:D002607 C10.500.300.200/C535400|C10.574.500.495.200/C535400|C10.668.829.800.300.200/C535400|C16.131.666.300.200/C535400|C16.320.400.375.200/C535400 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, dominant intermediate 3 MESH:C535401 MESH:D002607 C10.500.300.200/C535401|C10.574.500.495.200/C535401|C10.668.829.800.300.200/C535401|C16.131.666.300.200/C535401|C16.320.400.375.200/C535401 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Disease, Dominant Intermediate A MESH:C564702 DO:DOID:0110202|OMIM:606483 MESH:D002607 C10.500.300.200/C564702|C10.574.500.495.200/C564702|C10.668.829.800.300.200/C564702|C16.131.666.300.200/C564702|C16.320.400.375.200/C564702 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2GG|Charcot-Marie-Tooth Neuropathy, Dominant Intermediate A|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2GG|CMT2GG|CMTDIA Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Disease, Dominant Intermediate B MESH:C564703 DO:DOID:0110197|OMIM:606482 MESH:D002607 C10.500.300.200/C564703|C10.574.500.495.200/C564703|C10.668.829.800.300.200/C564703|C16.131.666.300.200/C564703|C16.320.400.375.200/C564703 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2m|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M, INCLUDED|Charcot-Marie-Tooth Disease, Axonal, Type 2m|Charcot-Marie-Tooth Disease, Dominant Intermediate B, With Neutropenia|CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED|Charcot-Marie-Tooth Neuropathy, Axonal, Type 2m|CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M, INCLUDED|Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B|CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED|Cmt2m|CMT2M, INCLUDED|CMTDI1|CMTDI1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, INCLUDED|CMTDIB|DI-CMTB Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Disease, Dominant Intermediate C MESH:C564257 DO:DOID:0110199|OMIM:608323 MESH:D002607 C10.500.300.200/C564257|C10.574.500.495.200/C564257|C10.668.829.800.300.200/C564257|C16.131.666.300.200/C564257|C16.320.400.375.200/C564257 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C|CMTDIC|DI-CMTC Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Disease, Dominant Intermediate D MESH:C564333 DO:DOID:0110200|OMIM:607791 MESH:D002607 C10.500.300.200/C564333|C10.574.500.495.200/C564333|C10.668.829.800.300.200/C564333|C16.131.666.300.200/C564333|C16.320.400.375.200/C564333 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D|CMTDID|DI-CMTD Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E OMIM:614455 DO:DOID:0110205 MESH:D002607 C10.500.300.200/614455|C10.574.500.495.200/614455|C10.668.829.800.300.200/614455|C16.131.666.300.200/614455|C16.320.400.375.200/614455 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS|CMTDIE Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F OMIM:615185 DO:DOID:0110206 MESH:D002607 C10.500.300.200/615185|C10.574.500.495.200/615185|C10.668.829.800.300.200/615185|C16.131.666.300.200/615185|C16.320.400.375.200/615185 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CMTDIF Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Disease, Foot Deformity of MESH:C564179 MESH:D002607|MESH:D005532 C05.330.495/C564179|C05.660.585.512.380/C564179|C10.500.300.200/C564179|C10.574.500.495.200/C564179|C10.668.829.800.300.200/C564179|C16.131.621.585.512.500/C564179|C16.131.666.300.200/C564179|C16.320.400.375.200/C564179 C05.330.495|C05.660.585.512.380|C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.621.585.512.500|C16.131.666.300.200|C16.320.400.375.200 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type MESH:C566137 MESH:D002607|MESH:D019066 C10.500.300.200/C566137|C10.574.500.495.200/C566137|C10.668.829.800.300.200/C566137|C16.131.666.300.200/C566137|C16.320.400.375.200/C566137|C23.550.291.812/C566137 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200|C23.550.291.812 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (process) Charcot-Marie-Tooth Disease, Recessive Intermediate A MESH:C564256 DO:DOID:0110201|OMIM:608340 MESH:D002607 C10.500.300.200/C564256|C10.574.500.495.200/C564256|C10.668.829.800.300.200/C564256|C16.131.666.300.200/C564256|C16.320.400.375.200/C564256 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A|CMTRIA|RI-CMTA Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B OMIM:613641 DO:DOID:0110204 MESH:D002607 C10.500.300.200/613641|C10.574.500.495.200/613641|C10.668.829.800.300.200/613641|C16.131.666.300.200/613641|C16.320.400.375.200/613641 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B|CMTRIB|RI-CMTB Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C OMIM:615376 DO:DOID:0110198 MESH:D002607 C10.500.300.200/615376|C10.574.500.495.200/615376|C10.668.829.800.300.200/615376|C16.131.666.300.200/615376|C16.320.400.375.200/615376 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C|CMTRIC|RI-CMTC Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D OMIM:616039 DO:DOID:0110203 MESH:D002607 C10.500.300.200/616039|C10.574.500.495.200/616039|C10.668.829.800.300.200/616039|C16.131.666.300.200/616039|C16.320.400.375.200/616039 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CMTRID Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 1C MESH:C537984 DO:DOID:0110151|OMIM:601098 MESH:D002607 C10.500.300.200/C537984|C10.574.500.495.200/C537984|C10.668.829.800.300.200/C537984|C16.131.666.300.200/C537984|C16.320.400.375.200/C537984 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, demyelinating, Type 1C|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1C|Charcot-Marie-Tooth Neuropathy, Type 1C Neuropathy, Hereditary Motor And Sensory, Type IC|CMT1C|CMT, Slow Nerve Conduction Type C|HMSN1C|HMSN IC|HMSNIC|NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 1D MESH:C537985 DO:DOID:0110150|OMIM:607678 MESH:D002607 C10.500.300.200/C537985|C10.574.500.495.200/C537985|C10.668.829.800.300.200/C537985|C16.131.666.300.200/C537985|C16.320.400.375.200/C537985 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, demyelinating, Type 1D|Charcot-Marie-Tooth Neuropathy, Type 1D|CMT1D|Hereditary motor and sensory neuropathy 1D|HMSN 1D|HMSN1D|HMSN ID|HMSNID Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 1E MESH:C537986 MESH:D002607 C10.500.300.200/C537986|C10.574.500.495.200/C537986|C10.668.829.800.300.200/C537986|C16.131.666.300.200/C537986|C16.320.400.375.200/C537986 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 1F MESH:C537987 OMIM:607734 MESH:D002607 C10.500.300.200/C537987|C10.574.500.495.200/C537987|C10.668.829.800.300.200/C537987|C16.131.666.300.200/C537987|C16.320.400.375.200/C537987 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, demyelinating, Type 1F|Charcot-Marie-Tooth Neuropathy, Type 1f|CMT1f|CMT 1F Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 2A MESH:C537988 MESH:D002607 C10.500.300.200/C537988|C10.574.500.495.200/C537988|C10.668.829.800.300.200/C537988|C16.131.666.300.200/C537988|C16.320.400.375.200/C537988 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, axonal, Type 2A|Charcot-Marie-Tooth disease, neuronal, Type 2A|Hereditary motor and sensory neuropathy 2 A|HMSN IIA Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 2B MESH:C537989 DO:DOID:0110159|OMIM:600882 MESH:D000083083|MESH:D002607 C10.500.300.200/C537989|C10.574.500.495.200/C537989|C10.668.829.800.300.200/C537989|C16.131.666.300.200/C537989|C16.320.400.375.200/C537989|C16.320.488/C537989 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200|C16.320.488 Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2B|Charcot-Marie-Tooth disease, axonal, Type 2B|Charcot-Marie-Tooth disease, neuronal, Type 2B|Charcot-Marie-Tooth Neuropathy, Type 2B|CMT 2B|CMT2B|Hereditary motor and sensory neuropathy 2 B (HMSN 2 B)|Hereditary Motor And Sensory Neuropathy IIB|HMSN2B|HMSN IIB|Peripheral sensory neuropathy, autosomal dominant (PSN) Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 2B1 MESH:C537990 DO:DOID:0110156|OMIM:605588 MESH:D000083083|MESH:D002607 C10.500.300.200/C537990|C10.574.500.495.200/C537990|C10.668.829.800.300.200/C537990|C16.131.666.300.200/C537990|C16.320.400.375.200/C537990|C16.320.488/C537990 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200|C16.320.488 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1|Charcot-Marie-Tooth disease, axonal, Type 2B1|Charcot-Marie-Tooth disease, neuronal, Type 2B1|Charcot-Marie-Tooth Neuropathy, Type 2b1|CMT2B1 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 2B2 MESH:C537991 DO:DOID:0110179|OMIM:605589 MESH:D002607 C10.500.300.200/C537991|C10.574.500.495.200/C537991|C10.668.829.800.300.200/C537991|C16.131.666.300.200/C537991|C16.320.400.375.200/C537991 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 ARCMT2B|Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2|Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type B2|Charcot-Marie-Tooth disease, axonal, Type 2B2|Charcot-Marie-Tooth disease, neuronal, Type 2B2|Charcot-Marie-Tooth Neuropathy, Type 2B2|CMT 2B2|CMT2B2 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 2C MESH:C537992 MESH:D002607 C10.500.300.200/C537992|C10.574.500.495.200/C537992|C10.668.829.800.300.200/C537992|C16.131.666.300.200/C537992|C16.320.400.375.200/C537992 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, axonal, Type 2C|Hereditary motor and sensory neuropathy 2 C Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 2D MESH:C537993 OMIM:601472 MESH:D002607 C10.500.300.200/C537993|C10.574.500.495.200/C537993|C10.668.829.800.300.200/C537993|C16.131.666.300.200/C537993|C16.320.400.375.200/C537993 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, axonal, Type 2D|Charcot-Marie-Tooth disease, neuronal, Type 2D|Charcot-Marie-Tooth Neuropathy, Type 2d|Cmt2d Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 2E MESH:C537994 OMIM:607684 MESH:D002607 C10.500.300.200/C537994|C10.574.500.495.200/C537994|C10.668.829.800.300.200/C537994|C16.131.666.300.200/C537994|C16.320.400.375.200/C537994 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, axonal, Type 2E|Charcot-Marie-Tooth Neuropathy, Type 2e|CMT2e|CMT 2E Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 2F MESH:C535413 OMIM:606595 MESH:D002607 C10.500.300.200/C535413|C10.574.500.495.200/C535413|C10.668.829.800.300.200/C535413|C16.131.666.300.200/C535413|C16.320.400.375.200/C535413 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, axonal, Type 2F|Charcot-Marie-Tooth disease, neuronal, Type 2F|Charcot-Marie-Tooth Neuropathy, Type 2f|Cmt2f|CMT 2F Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 2H MESH:C535415 OMIM:607731 MESH:D002607 C10.500.300.200/C535415|C10.574.500.495.200/C535415|C10.668.829.800.300.200/C535415|C16.131.666.300.200/C535415|C16.320.400.375.200/C535415 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, axonal, Type 2H|Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive|Charcot-Marie-Tooth Neuropathy, Axonal, With Pyramidal Features, Autosomal Recessive|Cmt2h Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 2I MESH:C535416 DO:DOID:0110158|OMIM:607677 MESH:D002607 C10.500.300.200/C535416|C10.574.500.495.200/C535416|C10.668.829.800.300.200/C535416|C16.131.666.300.200/C535416|C16.320.400.375.200/C535416 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l|Charcot-Marie-Tooth disease, axonal, Type 2I|Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2I|CMT 2I|CMT2I|Cmt2l Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 2J MESH:C535417 OMIM:607736 MESH:D002607|MESH:D006319 C09.218.458.341.887/C535417|C10.500.300.200/C535417|C10.574.500.495.200/C535417|C10.597.751.418.341.887/C535417|C10.668.829.800.300.200/C535417|C16.131.666.300.200/C535417|C16.320.400.375.200/C535417|C23.888.592.763.393.341.887/C535417 C09.218.458.341.887|C10.500.300.200|C10.574.500.495.200|C10.597.751.418.341.887|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200|C23.888.592.763.393.341.887 Charcot-Marie-Tooth disease, axonal, Type 2J|Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities|Charcot-Marie-Tooth Neuropathy, Type 2j|Cmt2j|CMT 2J Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Charcot-Marie-Tooth disease, Type 2K MESH:C535418 OMIM:607831 MESH:D002607 C10.500.300.200/C535418|C10.574.500.495.200/C535418|C10.668.829.800.300.200/C535418|C16.131.666.300.200/C535418|C16.320.400.375.200/C535418 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K|Charcot-Marie-Tooth disease, axonal, Type 2K|Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k|CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K, INCLUDED|Cmt2k|CMT 2K Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 4A MESH:C535419 DO:DOID:0110185|OMIM:214400 MESH:D002607 C10.500.300.200/C535419|C10.574.500.495.200/C535419|C10.668.829.800.300.200/C535419|C16.131.666.300.200/C535419|C16.320.400.375.200/C535419 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, demyelinating, autosomal recessive|CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A|Charcot-Marie-Tooth Neuropathy, Type 4a|CMT4A Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 4A, axonal form MESH:C539595 MESH:D002607 C10.500.300.200/C539595|C10.574.500.495.200/C539595|C10.668.829.800.300.200/C539595|C16.131.666.300.200/C539595|C16.320.400.375.200/C539595 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth disease, axonal, Type 2G|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease, Type 2G|Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive|Charcot-Marie-Tooth Neuropathy, Type 2g|Cmt2g|CMT 2G|CMT2 with Vocal Cord Paresis, Autosomal Recessive Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 4B1 MESH:C535420 DO:DOID:0110191|OMIM:601382 MESH:D002607 C10.500.300.200/C535420|C10.574.500.495.200/C535420|C10.668.829.800.300.200/C535420|C16.131.666.300.200/C535420|C16.320.400.375.200/C535420 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1|Charcot-Marie-Tooth disease, Type 4B|Charcot-Marie-Tooth Neuropathy, Type 4B1|CMT4B|CMT4B1 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 4B2 MESH:C535421 DO:DOID:0110190|OMIM:604563 MESH:D002607 C10.500.300.200/C535421|C10.574.500.495.200/C535421|C10.668.829.800.300.200/C535421|C16.131.666.300.200/C535421|C16.320.400.375.200/C535421 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2|Charcot-Marie-Tooth Neuropathy, Type 4B2|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED|CMT4B2 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma MESH:C535422 MESH:D002607|MESH:D005901 C10.500.300.200/C535422|C10.574.500.495.200/C535422|C10.668.829.800.300.200/C535422|C11.525.381/C535422|C16.131.666.300.200/C535422|C16.320.400.375.200/C535422 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C11.525.381|C16.131.666.300.200|C16.320.400.375.200 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 OMIM:615284 DO:DOID:0110194 MESH:D002607 C10.500.300.200/615284|C10.574.500.495.200/615284|C10.668.829.800.300.200/615284|C16.131.666.300.200/615284|C16.320.400.375.200/615284 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CMT4B3 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 4C MESH:C535423 OMIM:601596 MESH:D002607 C10.500.300.200/C535423|C10.574.500.495.200/C535423|C10.668.829.800.300.200/C535423|C16.131.666.300.200/C535423|C16.320.400.375.200/C535423 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c|Charcot-Marie-Tooth Neuropathy, Type 4c|Cmt4c|CMT 4C Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, Type 4E MESH:C535301 OMIM:605253 MESH:D002607 C10.500.300.200/C535301|C10.574.500.495.200/C535301|C10.668.829.800.300.200/C535301|C16.131.666.300.200/C535301|C16.320.400.375.200/C535301 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4E|Charcot-Marie-Tooth Neuropathy, Type 4e|CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4E NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT, INCLUDED|CHN1|CMT4E|Congenital Hypomyelinating Neuropathy|Congenital hypomyelinating neuropathy (CHN)|Hypomyelination, severe congenital|Neuropathy, congenital hypomyelinating|NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE|NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Disease, Type 4H MESH:C563740 OMIM:609311 MESH:D002607 C10.500.300.200/C563740|C10.574.500.495.200/C563740|C10.668.829.800.300.200/C563740|C16.131.666.300.200/C563740|C16.320.400.375.200/C563740 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4H|Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H|Charcot-Marie-Tooth Neuropathy, Type 4H|CMT4H Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Disease, Type 4j MESH:C566984 OMIM:611228 MESH:D002607 C10.500.300.200/C566984|C10.574.500.495.200/C566984|C10.668.829.800.300.200/C566984|C16.131.666.300.200/C566984|C16.320.400.375.200/C566984 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j|CMT4J Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K OMIM:616684 DO:DOID:0110187 MESH:D002607 C10.500.300.200/616684|C10.574.500.495.200/616684|C10.668.829.800.300.200/616684|C16.131.666.300.200/616684|C16.320.400.375.200/616684 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K|CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K|CMT4K Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease with ptosis and parkinsonism MESH:C538079 MESH:D001763|MESH:D002607|MESH:D010302 C10.228.140.079.862.800/C538079|C10.228.662.600.700/C538079|C10.500.300.200/C538079|C10.574.500.495.200/C538079|C10.668.829.800.300.200/C538079|C11.338.204/C538079|C16.131.666.300.200/C538079|C16.320.400.375.200/C538079 C10.228.140.079.862.800|C10.228.662.600.700|C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C11.338.204|C16.131.666.300.200|C16.320.400.375.200 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, X-linked, 1 MESH:C535919 OMIM:302800 MESH:D002607 C10.500.300.200/C535919|C10.574.500.495.200/C535919|C10.668.829.800.300.200/C535919|C16.131.666.300.200/C535919|C16.320.400.375.200/C535919 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1|Charcot-Marie-Tooth Neuropathy, X-Linked, 1|Charcot-Marie-Tooth peroneal muscular atrophy, X-linked|CMT2, FORMERLY|CMTX|Cmtx1|CMTX 1|Hereditary motor and sensory neuropathy, X-linked|HMSN, X-linked Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, X-linked recessive, 2 MESH:C535302 DO:DOID:0110208|OMIM:302801 MESH:D002607 C10.500.300.200/C535302|C10.574.500.495.200/C535302|C10.668.829.800.300.200/C535302|C16.131.666.300.200/C535302|C16.320.400.375.200/C535302 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2|CMTX2 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth disease, X-linked recessive, 3 MESH:C535303 DO:DOID:0110211|OMIM:302802 MESH:D002607 C10.500.300.200/C535303|C10.574.500.495.200/C535303|C10.668.829.800.300.200/C535303|C16.131.666.300.200/C535303|C16.320.400.375.200/C535303 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3|CMTX3 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia MESH:C564704 MESH:D002607 C10.500.300.200/C564704|C10.574.500.495.200/C564704|C10.668.829.800.300.200/C564704|C16.131.666.300.200/C564704|C16.320.400.375.200/C564704 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma MESH:C565761 MESH:D002607|MESH:D005901 C10.500.300.200/C565761|C10.574.500.495.200/C565761|C10.668.829.800.300.200/C565761|C11.525.381/C565761|C16.131.666.300.200/C565761|C16.320.400.375.200/C565761 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C11.525.381|C16.131.666.300.200|C16.320.400.375.200 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined MESH:C564446 MESH:D002607|MESH:D005621 C10.228.140.252.700.150/C564446|C10.228.854.787.200/C564446|C10.500.300.200/C564446|C10.574.500.495.200/C564446|C10.574.500.825.200/C564446|C10.668.829.800.300.200/C564446|C16.131.666.300.200/C564446|C16.320.400.375.200/C564446|C16.320.400.780.200/C564446|C18.452.660.300/C564446 C10.228.140.252.700.150|C10.228.854.787.200|C10.500.300.200|C10.574.500.495.200|C10.574.500.825.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200|C16.320.400.780.200|C18.452.660.300 Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease Charcot Marie Tooth type 1 aplasia cutis congenita MESH:C538077 MESH:D002607 C10.500.300.200/C538077|C10.574.500.495.200/C538077|C10.668.829.800.300.200/C538077|C16.131.666.300.200/C538077|C16.320.400.375.200/C538077 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita Congenital abnormality|Genetic disease (inborn)|Nervous system disease CHARGE Syndrome MESH:D058747 DO:DOID:0050834|OMIM:214800 Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome. MESH:D003103|MESH:D030342|MESH:D054062 C09.218.458.341.186.500.250|C10.597.751.418.341.186.500.250|C10.597.751.941.162.625.250|C11.270.147.500|C11.966.075.375.250|C16.131.077.299.250|C16.320.165|C23.888.592.763.393.341.186.500.500|C23.888.592.763.941.162.625.500 C09.218.458.341.186.500|C10.597.751.418.341.186.500|C10.597.751.941.162.625|C11.270.147|C11.966.075.375|C16.131.077.299|C16.320|C23.888.592.763.393.341.186.500|C23.888.592.763.941.162.625 CHARGE Association|CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies|CHARGE Associations|CHARGE Syndrome, Familial|CHARGE Syndromes|CHARGE Syndromes, Familial|Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies|Familial CHARGE Syndrome|Familial CHARGE Syndromes|Hall Hittner Syndrome|Hall-Hittner Syndrome|HHS Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Charles Bonnet Syndrome MESH:D000075562 Repetitive visual hallucinations experienced mostly by elderly with diminished visual acuity or visual field loss, with awareness of the fictional nature of their hallucinations. It is not associated with delusions and other sensory hallucinations. MESH:D006212 C10.597.606.762.300.500|C23.888.592.604.764.300.500 C10.597.606.762.300|C23.888.592.604.764.300 Nervous system disease|Signs and symptoms Char syndrome MESH:C566815 DO:DOID:0060563|OMIM:169100 MESH:D000015|MESH:D004374 C14.240.400.340/C566815|C14.280.400.340/C566815|C16.131.077/C566815|C16.131.240.400.340/C566815 C14.240.400.340|C14.280.400.340|C16.131.077|C16.131.240.400.340 CHAR|Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits Cardiovascular disease|Congenital abnormality Chediak-Higashi Syndrome MESH:D002609 DO:DOID:2935|OMIM:214500 A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle. MESH:D000081207|MESH:D000417|MESH:D010585 C11.270.040.772|C15.378.553.774.257|C16.320.798.375|C20.673.774.257|C20.673.795.375 C11.270.040|C15.378.553.774|C16.320.798|C20.673.774|C20.673.795 Chediak Higashi Syndrome|Chediak Steinbrinck Higashi Syndrome|Chediak-Steinbrinck-Higashi Syndrome|Chediak-Steinbrinck-Higashi Syndromes|CHS|Oculocutaneous Albinism with Leukocyte Defect Blood disease|Eye disease|Genetic disease (inborn)|Immune system disease Cheilitis MESH:D002613 DO:DOID:1762 Inflammation of the lips. It is of various etiologies and degrees of pathology. MESH:D008047 C07.465.409.215 C07.465.409 Cheilitides Mouth disease Cheilitis glandularis MESH:C535921 MESH:D002613|MESH:D012793 C07.465.409.215/C535921|C07.465.815.793/C535921 C07.465.409.215|C07.465.815.793 Mouth disease Chemical and Drug Induced Liver Injury MESH:D056486 A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment. MESH:D008107|MESH:D011041|MESH:D064420 C06.552.100|C25.100.562|C25.723.260 C06.552|C25.100|C25.723 Acute Liver Injury, Drug Induced|Acute Liver Injury, Drug-Induced|Chemically-Induced Liver Toxicities|Chemically Induced Liver Toxicity|Chemically-Induced Liver Toxicity|Disease, Drug-Induced Liver|Diseases, Drug-Induced Liver|Drug Induced Acute Liver Injury|Drug-Induced Acute Liver Injury|Drug-Induced Hepatitides|Drug-Induced Hepatitis|Drug Induced Liver Disease|Drug-Induced Liver Disease|Drug-Induced Liver Diseases|Drug-Induced Liver Injuries|Drug Induced Liver Injury|Drug-Induced Liver Injury|Hepatitides, Drug-Induced|Hepatitides, Toxic|Hepatitis, Drug Induced|Hepatitis, Drug-Induced|Hepatitis, Toxic|Injuries, Drug-Induced Liver|Injury, Drug-Induced Liver|Liver Disease, Drug-Induced|Liver Diseases, Drug-Induced|Liver Injuries, Drug-Induced|Liver Injury, Drug Induced|Liver Injury, Drug-Induced|Liver Injury, Drug-Induced, Acute|Liver Toxicities, Chemically-Induced|Liver Toxicity, Chemically-Induced|Toxic Hepatitides|Toxic Hepatitis|Toxicities, Chemically-Induced Liver|Toxicity, Chemically-Induced Liver Digestive system disease Chemical and Drug Induced Liver Injury, Chronic MESH:D056487 DO:DOID:2044 Liver disease lasting six months or more, caused by an adverse effect of a drug or chemical. The adverse effect may be caused by drugs, drug metabolites, chemicals from the environment, or an idiosyncratic response. MESH:D002908|MESH:D056486 C06.552.100.200|C23.550.291.500.266|C25.100.562.200|C25.723.260.200 C06.552.100|C23.550.291.500|C25.100.562|C25.723.260 Chemical Induced Liver Injury, Chronic|Chemical-Induced Liver Injury, Chronic|Chemically Induced Liver Injury, Chronic|Chemically-Induced Liver Injury, Chronic|Chronic Drug Induced Liver Injury|Chronic Drug-Induced Liver Injury|Drug Induced Liver Injury, Chronic|Drug-Induced Liver Injury, Chronic|Hepatitis, Chronic, Drug-Induced|Hepatitis, Chronic, Drug-Related|Liver Injury, Drug-Induced, Chronic Digestive system disease|Pathology (process) Chemically-Induced Disorders MESH:D064419 Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as PHARMACEUTICAL PREPARATIONS; NOXAE; and PESTICIDES. MESH:C C25 C Chemically-Induced Disorder|Chemically Induced Disorders Chemke Oliver Mallek syndrome MESH:C535922 MESH:D000015|MESH:D005124 C11.250/C535922|C16.131.077/C535922|C16.131.384/C535922 C11.250|C16.131.077|C16.131.384 Multiple ophthalmic anomalies and digital hypoplasia Congenital abnormality|Eye disease Chemotherapy-Induced Febrile Neutropenia MESH:D064146 FEVER accompanied by a significant reduction in NEUTROPHIL count associated with CHEMOTHERAPY. MESH:D064147 C15.378.553.546.184.564.750.500 C15.378.553.546.184.564.750 Chemotherapy Induced Febrile Neutropenia|Chemotherapy-Induced Febrile Neutropenias|Drug Induced Febrile Neutropenia|Drug-Induced Febrile Neutropenia|Drug-Induced Febrile Neutropenias|Febrile Neutropenia, Chemotherapy-Induced|Febrile Neutropenia, Drug-Induced|Febrile Neutropenias, Chemotherapy-Induced|Febrile Neutropenias, Drug-Induced|Neutropenia, Chemotherapy-Induced Febrile|Neutropenia, Drug-Induced Febrile|Neutropenias, Chemotherapy-Induced Febrile|Neutropenias, Drug-Induced Febrile Blood disease Chemotherapy-Related Cognitive Impairment MESH:D000084202 The diminished or impaired mental and/or intellectual function associated with the chemical treatment of cancer. MESH:D060825|MESH:D064420 C25.100.429|F03.615.250.700.250 C25.100|F03.615.250.700 Chemobrain|Chemo Fog|Chemo-Fog|Chemotherapy Induced Cognitive Dysfunction|Chemotherapy-Induced Cognitive Dysfunction|Chemotherapy Induced Cognitive Impairment|Chemotherapy-Induced Cognitive Impairment|Chemotherapy Induced Cognitive Impairments|Chemotherapy-Induced Cognitive Impairments|Chemotherapy Related Cognitive Dysfunction|Chemotherapy-Related Cognitive Dysfunction|Chemotherapy-Related Cognitive Dysfunctions|Chemotherapy Related Cognitive Impairment|Chemotherapy-Related Cognitive Impairments|Cognitive Dysfunction, Chemotherapy-Induced|Cognitive Dysfunction, Chemotherapy-Related|Cognitive Impairment, Chemotherapy-Induced|Cognitive Impairment, Chemotherapy-Related|Cognitive Impairments, Chemotherapy-Induced|Cognitive Impairments, Chemotherapy-Related Mental disorder Cherubism MESH:D002636 DO:DOID:1856|OMIM:118400 A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination. MESH:D005357|MESH:D007571|MESH:D019767|MESH:D030342 C05.116.099.708.375.199|C05.500.174|C07.320.173|C16.131.621.207.540.170|C16.320.170 C05.116.099.708.375|C05.500|C07.320|C16.131.621.207.540|C16.320 CRBM|Familial Benign Giant-Cell Tumor of the Jaw|Familial Fibrous Dysplasia of Jaw|Familial Multilocular Cystic Disease of the Jaws Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Chest Pain MESH:D002637 Pressure, burning, or numbness in the chest. MESH:D010146 C23.888.592.612.233 C23.888.592.612 Chest Pains|Pain, Chest|Pains, Chest|Precordial Catch|Precordial Catch Syndrome|Syndrome, Precordial Catch|Texidor's Twinge|Texidor Twinge Signs and symptoms Cheyne-Stokes Respiration MESH:D002639 An abnormal pattern of breathing characterized by alternating periods of apnea and deep, rapid breathing. The cycle begins with slow, shallow breaths that gradually increase in depth and rate and is then followed by a period of apnea. The period of apnea can last 5 to 30 seconds, then the cycle repeats every 45 seconds to 3 minutes. MESH:D012120|MESH:D012818 C08.618.182|C23.888.852.227 C08.618|C23.888.852 Cheyne Stokes Respiration|Respiration, Cheyne-Stokes Respiratory tract disease|Signs and symptoms Chiari-Frommel Syndrome MESH:D002640 DO:DOID:12700 A POSTPARTUM condition consists of persistent lactation (GALACTORRHEA) and AMENORRHEA in patients not BREAST FEEDING. MESH:D005687 C12.050.703.844.506.389.500|C17.800.090.937.439.500 C12.050.703.844.506.389|C17.800.090.937.439 Chiari Frommel Syndrome|Disease, Frommel|Disease, Frommel's|Frommel Disease|Frommel's Disease|Syndrome, Chiari-Frommel Pregnancy complication|Skin disease Chiari Malformation Type I with Syringomyelia MESH:C566133 MESH:D001139|MESH:D013595 C10.228.854.833/C566133|C10.500.680.291/C566133|C16.131.666.680.291/C566133 C10.228.854.833|C10.500.680.291|C16.131.666.680.291 CM1 with Syringomyelia Congenital abnormality|Nervous system disease Chickenpox MESH:D002644 DO:DOID:8659 A highly contagious infectious disease caused by the varicella-zoster virus (HERPESVIRUS 3, HUMAN). It usually affects children, is spread by direct contact or respiratory route via droplet nuclei, and is characterized by the appearance on the skin and mucous membranes of successive crops of typical pruritic vesicular lesions that are easily broken and become scabbed. Chickenpox is relatively benign in children, but may be complicated by pneumonia and encephalitis in adults. (From Dorland, 27th ed) MESH:D000073618 C01.925.256.466.930.250 C01.925.256.466.930 Chicken Pox|Varicella Viral disease Chikungunya Fever MESH:D065632 An acute infection caused by a mosquito-borne alphavirus CHIKUNGUNYA VIRUS characterized by RASH; FEVER; JOINT PAINS; CONJUNCTIVITIS; MENINGOENCEPHALITIS; LYMPHOPENIA; and THROMBOCYTOPENIA. MESH:D001102|MESH:D018354 C01.920.500.078.184|C01.925.081.198|C01.925.782.930.100.184 C01.920.500.078|C01.925.081|C01.925.782.930.100 Chickungunya Fever|Chickungunya Fevers|Chikungunya Fevers|Chikungunya Virus Infection|Chikungunya Virus Infections|Fever, Chickungunya|Fever, Chikungunya|Infection, Chikungunya Virus Viral disease Chilaiditi Syndrome MESH:D059269 Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition. MESH:D003108 C06.405.469.158.093 C06.405.469.158 Anomaly, Chilaiditi|Anomaly, Chilaiditi's|Chilaiditi Anomaly|Chilaiditi's Anomaly|Chilaiditis Anomaly|Chilaiditi's Syndrome|Chilaiditis Syndrome|Syndrome, Chilaiditi|Syndrome, Chilaiditi's Digestive system disease Chilblain lupus 1 MESH:C535924 DO:DOID:0060386|OMIM:610448 MESH:D002647|MESH:D008178 C17.300.475/C535924|C17.800.480/C535924|C26.212.500.217/C535924|C26.417.217/C535924 C17.300.475|C17.800.480|C26.212.500.217|C26.417.217 CHBL1|Chilblain lupus Connective tissue disease|Skin disease|Wounds and injuries CHILBLAIN LUPUS 2 OMIM:614415 DO:DOID:0060386 MESH:D002647 C26.212.500.217/614415|C26.417.217/614415 C26.212.500.217|C26.417.217 CHBL2 Wounds and injuries Chilblains MESH:D002647 Recurrent localized itching, swelling and painful erythema on the fingers, toes or ears, produced by exposure to cold. MESH:D005627 C26.212.500.217|C26.417.217 C26.212.500|C26.417 Chilblain|Idiopathic Pernioses|Idiopathic Perniosis|Pernio|Pernios|Pernioses|Pernioses, Idiopathic|Perniosis|Perniosis, Idiopathic Wounds and injuries Child Behavior Disorders MESH:D002653 Disturbances considered to be pathological based on age and stage appropriateness, e.g., conduct disturbances and anaclitic depression. This concept does not include psychoneuroses, psychoses, or personality disorders with fixed patterns. MESH:D065886 F03.625.141 F03.625 Behavior Disorder, Child|Behavior Disorder, Childhood|Child Behavior Disorder|Childhood Behavior Disorder|Childhood Behavior Disorders|Disorder, Childhood Behavior Mental disorder Child Development Disorders, Pervasive MESH:D002659 Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements. MESH:D065886 F03.625.164 F03.625 Pervasive Child Development Disorders|Pervasive Development Disorders Mental disorder Childhood Myocerebrohepatopathy Spectrum MESH:C579990 MESH:D028361 C18.452.660/C579990 C18.452.660 Metabolic disease Childhood-Onset Fluency Disorder MESH:D000067454 Disturbances in the normal fluency and time patterning of speech that are inappropriate for the individual's age and language skills. (DSM-V) MESH:D003147 F03.625.374.125 F03.625.374 Childhood Onset Fluency Disorder|Childhood-Onset Fluency Disorders|Disorder, Childhood-Onset Fluency|Disorders, Childhood-Onset Fluency|Fluency Disorder, Childhood-Onset|Fluency Disorders, Childhood-Onset Mental disorder Child Nutrition Disorders MESH:D015362 Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in children ages 2 to 12 years. MESH:D009748 C18.654.180 C18.654 Child Malnutrition|Child Nutrition Disorder|Child Overnutrition|Malnutrition, Child|Malnutrition in Children|Nutrition Disorder, Child|Nutrition Disorders, Child|Overnutrition, Child Nutrition disorder Chills MESH:D023341 The sudden sensation of being cold. It may be accompanied by SHIVERING. MESH:D012816 C23.888.208 C23.888 Signs and symptoms Chitayat Moore Del Bigio syndrome MESH:C535927 MESH:D002658|MESH:D003616 C10.228.140.252.300/C535927|C10.228.140.602.500/C535927|C10.500.205/C535927|C16.131.666.205/C535927|F03.625.421/C535927 C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C16.131.666.205|F03.625.421 Congenital abnormality|Mental disorder|Nervous system disease CHITAYAT SYNDROME OMIM:617180 MESH:D006215|MESH:D017880|MESH:D055091 C05.182.895.249/617180|C05.330.610/617180|C05.660.585/617180|C08.127.719.500/617180|C16.131.621.585/617180|C16.131.621.953.249/617180|C17.300.182.895.249/617180 C05.182.895.249|C05.330.610|C05.660.585|C08.127.719.500|C16.131.621.585|C16.131.621.953.249|C17.300.182.895.249 CHYTS Congenital abnormality|Connective tissue disease|Musculoskeletal disease|Respiratory tract disease Chitty Hall Baraitser syndrome MESH:C535928 MESH:D001851|MESH:D006130|MESH:D006319|MESH:D007767 C05.116.198/C535928|C09.218.458.341.887/C535928|C10.597.751.418.341.887/C535928|C11.496.456/C535928|C18.452.104/C535928|C23.550.393/C535928|C23.888.592.763.393.341.887/C535928 C05.116.198|C09.218.458.341.887|C10.597.751.418.341.887|C11.496.456|C18.452.104|C23.550.393|C23.888.592.763.393.341.887 Deafness, femoral epiphyseal dysplasia, short stature and developmental delay|Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction Ear-nose-throat disease|Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Chitty Hall Webb syndrome MESH:C535929 MESH:D002658|MESH:D050723 C26.404/C535929|F03.625.421/C535929 C26.404|F03.625.421 Mental disorder|Wounds and injuries Chlamydiaceae Infections MESH:D002694 Infections with bacteria of the family CHLAMYDIACEAE. MESH:D016905 C01.150.252.400.210 C01.150.252.400 Chlamydiaceae Infection|Infection, Chlamydiaceae|Infections, Chlamydiaceae Bacterial infection or mycosis Chlamydia Infections MESH:D002690 Infections with bacteria of the genus CHLAMYDIA. MESH:D002694|MESH:D015231 C01.150.252.400.210.125|C01.150.252.734.301|C01.221.812.281.301|C01.778.281.301|C12.100.937.281.301 C01.150.252.400.210|C01.150.252.734|C01.221.812.281|C01.778.281|C12.100.937.281 Chlamydia Infection|Infection, Chlamydia|Infections, Chlamydia Bacterial infection or mycosis Chlamydial Pneumonia MESH:D061387 Pneumonia caused by infections with the genus CHLAMYDIA; and CHLAMYDOPHILA, usually with CHLAMYDOPHILA PNEUMONIAE. MESH:D002690|MESH:D018410|MESH:D023521 C01.150.252.400.210.125.123|C01.150.252.400.210.250.299|C01.150.252.620.249|C01.748.610.540.249|C08.381.677.540.249|C08.730.610.540.249 C01.150.252.400.210.125|C01.150.252.400.210.250|C01.150.252.620|C01.748.610.540|C08.381.677.540|C08.730.610.540 Chlamydial Pneumonias|Chlamydophila Pneumonia|Chlamydophila Pneumonias|Pneumonia, Chlamydial|Pneumonia, Chlamydophila|Pneumonias, Chlamydial|Pneumonias, Chlamydophila Bacterial infection or mycosis|Respiratory tract disease Chlamydophila Infections MESH:D023521 Infections with bacteria of the genus CHLAMYDOPHILA. MESH:D002694 C01.150.252.400.210.250 C01.150.252.400.210 Chlamydia pneumoniae Infection|Chlamydia pneumoniae Infections|Chlamydophila Infection|Infection, Chlamydia pneumoniae|Infection, Chlamydophila Bacterial infection or mycosis Chloracne MESH:D054506 ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants. MESH:D017486 C17.800.030.575 C17.800.030 Acne, Chlorine|Acnes, Chlorine|Chloracnes|Chlorine Acne|Chlorine Acnes Skin disease chlorellosis MESH:C000656804 MESH:D012874 C01.800/C000656804|C17.800.838/C000656804 C01.800|C17.800.838 Chlorellosis infection|Chlorellosis infections Skin disease Chlorpropamide-Alcohol Flushing MESH:C566132 MESH:D005483 C23.888.885.344/C566132 C23.888.885.344 Endemic Tyrolean Infantile Cirrhosis Signs and symptoms Choanal Atresia MESH:D002754 DO:DOID:9574 A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous. MESH:D009668|MESH:D015619 C08.460.171|C08.695.271|C09.603.171|C16.131.740.271 C08.460|C08.695|C09.603|C16.131.740 Atresia, Choanal|Atresias, Choanal|Choanal Atresias Congenital abnormality|Ear-nose-throat disease|Respiratory tract disease CHOANAL ATRESIA AND LYMPHEDEMA OMIM:613611 MESH:D002754|MESH:D008209 C08.460.171/613611|C08.695.271/613611|C09.603.171/613611|C15.604.496/613611|C16.131.740.271/613611 C08.460.171|C08.695.271|C09.603.171|C15.604.496|C16.131.740.271 CATLPH Congenital abnormality|Ear-nose-throat disease|Lymphatic disease|Respiratory tract disease Choanal Atresia, Posterior MESH:C562435 DO:DOID:9574 MESH:D002754 C08.460.171/C562435|C08.695.271/C562435|C09.603.171/C562435|C16.131.740.271/C562435 C08.460.171|C08.695.271|C09.603.171|C16.131.740.271 Congenital abnormality|Ear-nose-throat disease|Respiratory tract disease Cholangiocarcinoma MESH:D018281 DO:DOID:4928|DO:DOID:4947 A malignant tumor arising from the epithelium of the BILE DUCTS. MESH:D000230 C04.557.470.200.025.450 C04.557.470.200.025 Carcinoma, Cholangiocellular|Carcinomas, Cholangiocellular|Cholangiocarcinoma, Extrahepatic|Cholangiocarcinoma, Intrahepatic|Cholangiocarcinomas|Cholangiocarcinomas, Extrahepatic|Cholangiocarcinomas, Intrahepatic|Cholangiocellular Carcinoma|Cholangiocellular Carcinomas|Extrahepatic Cholangiocarcinoma|Extrahepatic Cholangiocarcinomas|Intrahepatic Cholangiocarcinoma|Intrahepatic Cholangiocarcinomas Cancer Cholangitis MESH:D002761 DO:DOID:9446 Inflammation of the biliary ductal system (BILE DUCTS); intrahepatic, extrahepatic, or both. MESH:D001649 C06.130.120.200 C06.130.120 Cholangitides Digestive system disease Cholangitis, Sclerosing MESH:D015209 DO:DOID:0060643|DO:DOID:14268|OMIM:613806 Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS. MESH:D002761 C06.130.120.200.110 C06.130.120.200 Cholangiitides, Sclerosing|Cholangiitis, Sclerosing|Cholangitides, Primary Sclerosing|Cholangitides, Sclerosing|Cholangitis, Primary Sclerosing|Primary Sclerosing Cholangitides|Primary Sclerosing Cholangitis|PSC|Sclerosing Cholangiitides|Sclerosing Cholangiitis|Sclerosing Cholangitides|Sclerosing Cholangitides, Primary|Sclerosing Cholangitis|Sclerosing Cholangitis, Primary Digestive system disease Cholecystitis MESH:D002764 DO:DOID:1949 Inflammation of the GALLBLADDER; generally caused by impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, or other diseases. MESH:D005705 C06.130.564.263 C06.130.564 Empyema, Gallbladder|Empyema, Gall Bladder|Gallbladder Empyema|Gall Bladder Empyema|Gallbladder Inflammation|Inflammation, Gallbladder Digestive system disease Cholecystitis, Acute MESH:D041881 Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases. MESH:D002764 C06.130.564.263.500 C06.130.564.263 Acute Cholecystitis Digestive system disease Cholecystolithiasis MESH:D041761 DO:DOID:11151 Presence or formation of GALLSTONES in the GALLBLADDER. MESH:D002769|MESH:D005705 C06.130.409.178|C06.130.564.332 C06.130.409|C06.130.564 Digestive system disease Choledochal Cyst MESH:D015529 DO:DOID:899 A congenital anatomic malformation of a bile duct, including cystic dilatation of the extrahepatic bile duct or the large intrahepatic bile duct. Classification is based on the site and type of dilatation. Type I is most common. MESH:D001649|MESH:D003560|MESH:D004065 C04.182.198|C06.130.120.127|C06.198.184|C16.131.314.184 C04.182|C06.130.120|C06.198|C16.131.314 Bile Duct Cyst|Bile Duct Cysts|Biliary Dilatation, Congenital|Choledochal Cyst, Congenital|Choledochal Cyst, Diverticulum|Choledochal Cyst, Intrahepatic|Choledochal Cyst, Multiple|Choledochal Cysts|Choledochal Cysts, Diverticulum|Choledochal Cyst, Type I|Choledochal Cyst, Type II|Choledochal Cyst, Type III|Choledochal Cyst, Type IV|Choledochal Cyst, Type V|Choledochal Diverticulum|Choledochal Diverticulums|Choledochocele|Choledochoceles|Common Bile Duct Cyst|Congenital Biliary Dilatation|Congenital Biliary Dilatations|Congenital Choledochal Cyst|Congenital Choledochal Cysts|Cyst, Bile Duct|Cyst, Choledochal|Cyst, Common Bile Duct|Cyst, Congenital Choledochal|Cyst, Intrahepatic Choledochal|Cyst, Multiple Choledochal|Cysts, Common Bile Duct|Dilatation, Congenital Biliary|Diverticulum, Choledochal|Diverticulum Choledochal Cyst|Diverticulum Choledochal Cysts|Duct Cyst, Bile|Intrahepatic Choledochal Cyst|Intrahepatic Choledochal Cysts|Multiple Choledochal Cyst|Multiple Choledochal Cysts Cancer|Congenital abnormality|Digestive system disease Choledocholithiasis MESH:D042883 DO:DOID:11755 Presence or formation of GALLSTONES in the COMMON BILE DUCT. MESH:D002769|MESH:D003137 C06.130.120.250.174|C06.130.409.267 C06.130.120.250|C06.130.409 Cholelithiasis, Common Bile Duct Digestive system disease Cholelithiasis MESH:D002769 Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS). MESH:D001660 C06.130.409 C06.130 Cholelithiases|Gallstone Disease|Gallstone Diseases Digestive system disease Cholera MESH:D002771 DO:DOID:1498 An acute diarrheal disease endemic in India and Southeast Asia whose causative agent is VIBRIO CHOLERAE. This condition can lead to severe dehydration in a matter of hours unless quickly treated. MESH:D014735 C01.150.252.400.959.347 C01.150.252.400.959 Choleras|Infections, Vibrio cholerae|Infection, Vibrio cholerae|Vibrio cholerae Infection|Vibrio cholerae Infections Bacterial infection or mycosis Cholera Morbus MESH:D017688 An old term that is no longer used in the scientific literature. Cholera morbus refers to acute GASTROENTERITIS occurring in summer or autumn; characterized by severe cramps, diarrhea, and vomiting. MESH:D005759 C06.405.205.200 C06.405.205 Choleras, Summer|Cholera, Summer|Summer Cholera|Summer Choleras Digestive system disease Cholestasis MESH:D002779 DO:DOID:13580 Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS). MESH:D001649 C06.130.120.135 C06.130.120 Bile Duct Obstruction|Bile Duct Obstructions|Biliary Stases|Biliary Stasis|Cholestases|Duct Obstruction, Bile|Duct Obstructions, Bile|Obstruction, Bile Duct|Obstructions, Bile Duct|Stases, Biliary|Stasis, Biliary Digestive system disease CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 OMIM:605479 DO:DOID:0070232 MESH:D002780 C06.130.120.135.250/605479|C06.552.150/605479 C06.130.120.135.250|C06.552.150 BRIC2 Digestive system disease Cholestasis, Extrahepatic MESH:D001651 DO:DOID:13619 Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes. MESH:D002779 C06.130.120.135.150 C06.130.120.135 Bile Duct Obstruction, Extrahepatic|Biliary Stasis, Extrahepatic|Extrahepatic Biliary Stasis|Extrahepatic Cholestasis Digestive system disease Cholestasis, Intrahepatic MESH:D002780 DO:DOID:1852 Impairment of bile flow due to injury to the HEPATOCYTES; BILE CANALICULI; or the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). MESH:D002779|MESH:D008107 C06.130.120.135.250|C06.552.150 C06.130.120.135|C06.552 Bile Duct Obstruction, Intrahepatic|Biliary Stases, Intrahepatic|Biliary Stasis, Intrahepatic|Cholestases, Intrahepatic|Intrahepatic Biliary Stases|Intrahepatic Biliary Stasis|Intrahepatic Cholestases|Intrahepatic Cholestasis Digestive system disease Cholestasis, progressive familial intrahepatic 1 MESH:C535933 DO:DOID:0070226|OMIM:211600|OMIM:243300 MESH:D002780 C06.130.120.135.250/C535933|C06.552.150/C535933 C06.130.120.135.250|C06.552.150 BRIC1|Byler disease|Byler's disease|Cholestasis, benign recurrent intrahepatic 1|Cholestasis, Benign Recurrent Intrahepatic, 1|Cholestasis, fatal intrahepatic|Cholestasis, Progressive Familial Intrahepatic, 1|FIC1 deficiency|PFIC1|PFIC1 Progressive familial intrahepatic cholestasis type 1|Progressive familial intrahepatic cholestasis|Progressive familial intrahepatic cholestasis type 1 (PFIC 1)|Progressive familial intrahepatic cholestasis type 1 (PFIC1)|Summerskill syndrome Digestive system disease Cholestasis, progressive familial intrahepatic 2 MESH:C535934 DO:DOID:0070222|DO:DOID:0070232|OMIM:601847 MESH:D002780 C06.130.120.135.250/C535934|C06.552.150/C535934 C06.130.120.135.250|C06.552.150 Benign recurrent intrahepatic cholestasis 2 (BRIC2)|Cholestasis, benign recurrent intrahepatic 2|Cholestasis, Benign Recurrent Intrahepatic, 2|CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2|PFIC2|PFIC2 Progressive familial intrahepatic cholestasis type 2|Progressive familial intrahepatic cholestasis 2 Digestive system disease Cholestasis, progressive familial intrahepatic 3 MESH:C535935 DO:DOID:0070223|OMIM:602347 MESH:D002780 C06.130.120.135.250/C535935|C06.552.150/C535935 C06.130.120.135.250|C06.552.150 Abcb4-Related Intrahepatic Cholestasis|Cholestasis, Progressive Familial Intrahepatic, 3|Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase|Low gamma-GT Familial Intrahepatic Cholestasis|MDR3 Deficiency|PFIC3|PFIC3 Progressive familial intrahepatic cholestasis type 3|Progressive Familial Intrahepatic Cholestasis 3 (PFIC 3)|Progressive Familial Intrahepatic Cholestasis 3 (PFIC3)|Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase Digestive system disease CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 OMIM:615878 DO:DOID:0070224 MESH:D002780 C06.130.120.135.250/615878|C06.552.150/615878 C06.130.120.135.250|C06.552.150 PFIC4 Digestive system disease CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 OMIM:617049 DO:DOID:0070225 MESH:D002780 C06.130.120.135.250/617049|C06.552.150/617049 C06.130.120.135.250|C06.552.150 PFIC5 Digestive system disease Cholestasis with Gallstone, Ataxia, and Visual Disturbance MESH:C565856 MESH:D002779|MESH:D015785|MESH:D042882 C06.130.120.135/C565856|C06.130.409.633/C565856|C06.130.564.332.500/C565856|C11.270/C565856|C16.320.290/C565856|C23.300.175.525/C565856 C06.130.120.135|C06.130.409.633|C06.130.564.332.500|C11.270|C16.320.290|C23.300.175.525 Digestive system disease|Eye disease|Genetic disease (inborn)|Pathology (anatomical condition) Cholesteatoma MESH:D002781 DO:DOID:869 A non-neoplastic mass of keratin-producing squamous EPITHELIUM, frequently occurring in the MENINGES; bones of the skull, and most commonly in the MIDDLE EAR and MASTOID region. Cholesteatoma can be congenital or acquired. Cholesteatoma is not a tumor nor is it associated with high CHOLESTEROL. MESH:D007642 C17.800.428.260 C17.800.428 Cholesteatomas Skin disease Cholesteatoma, Congenital MESH:C562858 MESH:D002781 C17.800.428.260/C562858 C17.800.428.260 Skin disease Cholesteatoma, Middle Ear MESH:D018424 DO:DOID:10964 A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR. MESH:D002781|MESH:D004427 C09.218.200|C17.800.428.260.300 C09.218|C17.800.428.260 Aural Cholesteatoma|Aural Cholesteatomas|Cholesteatoma, Aural|Cholesteatomas, Aural|Cholesteatomas, Middle Ear|Middle Ear Cholesteatoma|Middle Ear Cholesteatomas Ear-nose-throat disease|Skin disease Cholesterol Ester Storage Disease MESH:D015217 DO:DOID:14502 An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. MESH:D008064|MESH:D016464 C16.320.565.398.641.201|C16.320.565.595.201|C18.452.584.563.641.201|C18.452.648.398.641.201|C18.452.648.595.201 C16.320.565.398.641|C16.320.565.595|C18.452.584.563.641|C18.452.648.398.641|C18.452.648.595 Cholesteryl Ester Storage Disease Genetic disease (inborn)|Metabolic disease CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 OMIM:604595 MESH:D006937 C18.452.584.500.500.396/604595 C18.452.584.500.500.396 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13|CHOLESTEROL-LOWERING FACTOR|CLF|CLQTL1 Metabolic disease Cholesterol pneumonia MESH:C535937 MESH:D002779|MESH:D011014 C01.748.610/C535937|C06.130.120.135/C535937|C08.381.677/C535937|C08.730.610/C535937 C01.748.610|C06.130.120.135|C08.381.677|C08.730.610 Familiaere Cholesterin-Pneumonie Digestive system disease|Respiratory tract disease Cholesteryl Ester Transfer Protein Deficiency MESH:C564591 DO:DOID:0111369 MESH:D008052 C16.320.565.398/C564591|C18.452.584.563/C564591|C18.452.648.398/C564591 C16.320.565.398|C18.452.584.563|C18.452.648.398 CETP Deficiency|Hyperalphalipoproteinemia Genetic disease (inborn)|Metabolic disease Choline Deficiency MESH:D002796 DO:DOID:8456 A condition produced by a deficiency of CHOLINE in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984) MESH:D014804 C18.654.521.500.133.699.160 C18.654.521.500.133.699 Choline Deficiencies|Deficiencies, Choline|Deficiency, Choline Nutrition disorder Chondroblastoma MESH:D002804 DO:DOID:2649 A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846) MESH:D009372 C04.557.450.565.250 C04.557.450.565 Chondroblastomas Cancer Chondrocalcinosis MESH:D002805 Presence of CALCIUM PYROPHOSPHATE in the connective tissues such as the cartilaginous structures of joints. When accompanied by GOUT-like symptoms, it is referred to as pseudogout. MESH:D000070657|MESH:D001168 C05.550.114.264|C05.550.354.125 C05.550.114|C05.550.354 Calcium Pyrophosphate Deposition Disease|Calcium Pyrophosphate Dihydrate Deposition|Chondrocalcinoses|Pseudogout Musculoskeletal disease Chondrocalcinosis 1 MESH:C535938 OMIM:600668 MESH:D002805|MESH:D010003 C05.550.114.264/C535938|C05.550.114.606/C535938|C05.550.354.125/C535938|C05.799.613/C535938 C05.550.114.264|C05.550.114.606|C05.550.354.125|C05.799.613 CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE 1|CCAL1|Chondrocalcinosis with early-onset osteoarthritis|CPPDD1 Musculoskeletal disease Chondrocalcinosis 2 MESH:C563162 OMIM:118600 MESH:D002805 C05.550.114.264/C563162|C05.550.354.125/C563162 C05.550.114.264|C05.550.354.125 Calcium Gout|Calcium Pyrophosphate Arthropathy|Calcium Pyrophosphate Dihydrate Deposition Disease|CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE 2|CCAL2|Chondrocalcinosis, Familial Articular|CPPDD|CPPDD2|CPPDD Calcium Pyrophosphate Dihydrate Deposition Disease Musculoskeletal disease Chondrocalcinosis due to Apatite crystal deposition MESH:C535939 MESH:D002805 C05.550.114.264/C535939|C05.550.354.125/C535939 C05.550.114.264|C05.550.354.125 Familial Apatite disease Musculoskeletal disease Chondrodysplasia, acromesomelic, with genital anomalies MESH:C537913 OMIM:609441 MESH:D010049|MESH:D017880 C05.660.585/C537913|C12.050.351.500.056.630/C537913|C12.100.250.056.630/C537913|C16.131.621.585/C537913|C19.391.630/C537913 C05.660.585|C12.050.351.500.056.630|C12.100.250.056.630|C16.131.621.585|C19.391.630 ACROMESOMELIC DYSPLASIA 3|ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE|AMD3|AMDD|CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Urogenital disease (female) Chondrodysplasia, blomstrand type MESH:C537914 DO:DOID:0060387|OMIM:215045 MESH:D005097|MESH:D010009 C04.557.450.565.575.610.615.325/C537914|C04.700.330/C537914|C05.116.099.708.670.615.325/C537914|C05.116.099.708/C537914|C05.116.540.310.500/C537914|C16.320.700.330/C537914|C16.320.728/C537914 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708|C05.116.099.708.670.615.325|C05.116.540.310.500|C16.320.700.330|C16.320.728 Blomstrand lethal osteochondrodysplasia|Blomstrand osteochondrodysplasia|Blomstrand syndrome|BOCD|Lethal congenital dwarfism with accelerated skeletal maturation Cancer|Genetic disease (inborn)|Musculoskeletal disease Chondrodysplasia Calcificans Metaphysealis MESH:C565855 MESH:D004392|MESH:D010009 C05.116.099.343/C565855|C05.116.099.708/C565855|C16.320.240/C565855|C16.320.728/C565855|C19.297/C565855 C05.116.099.343|C05.116.099.708|C16.320.240|C16.320.728|C19.297 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Chondrodysplasia, Grebe type MESH:C537915 OMIM:200700 MESH:D009139|MESH:D010009 C05.116.099.708/C537915|C05.660/C537915|C16.131.621/C537915|C16.320.728/C537915 C05.116.099.708|C05.660|C16.131.621|C16.320.728 Achondrogenesis, Brazilian|ACHONDROGENESIS, TYPE II, FORMERLY|ACROMESOMELIC DYSPLASIA 2A|Acromesomelic dysplasia, Grebe type|AMD2A|AMDG|Brazilian achondrogenesis|CHONDRODYSPLASIA, GREBE TYPE|Grebe chondrodysplasia|Grebe dysplasia|Grebe syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density MESH:C563330 MESH:D010009 C05.116.099.708/C563330|C16.320.728/C563330 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Chondrodysplasia, Megarbane-Dagher-Melki Type MESH:C567644 MESH:D000015|MESH:D002658|MESH:D004392|MESH:D010009|MESH:D019066 C05.116.099.343/C567644|C05.116.099.708/C567644|C16.131.077/C567644|C16.320.240/C567644|C16.320.728/C567644|C19.297/C567644|C23.550.291.812/C567644|F03.625.421/C567644 C05.116.099.343|C05.116.099.708|C16.131.077|C16.320.240|C16.320.728|C19.297|C23.550.291.812|F03.625.421 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Pathology (process) Chondrodysplasia Punctata MESH:D002806 DO:DOID:2581|OMIM:302960 A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. MESH:D010009 C05.116.099.708.195 C05.116.099.708 CDPX2|CDPXD|Chondrodysplasia Punctata 2, X Linked|Chondrodysplasia Punctata 2, X-Linked|Chondrodysplasia Punctata 2, X Linked Dominant|Chondrodysplasia Punctata 2, X-Linked Dominant|Chondrodystrophia Calcificans Congenita|Conradi Hunermann Happle Syndrome|Conradi-Hunermann-Happle Syndrome|Conradi Hünermann Happle Syndrome|Conradi-Hünermann-Happle Syndrome|Conradi-Hunermann-Happle Syndromes|Conradi-Hünermann-Happle Syndromes|Conradi Hunermann Syndrome|Conradi-Hunermann Syndrome|Conradi Hünermann Syndrome|Conradi-Hünermann Syndrome|Conradi-Hünermann Syndromes|CPXD|Dysplasia Epiphysialis Punctata|Epiphyses, Stippled|Happle Syndrome|Hunermann Conradi Syndrome|Hunermann-Conradi Syndrome|Stippled Epiphyses|X Linked Chondrodysplasia Punctata 2|X-Linked Chondrodysplasia Punctata 2|X Linked Dominant Chondrodysplasia Punctata|X-Linked Dominant Chondrodysplasia Punctata Musculoskeletal disease Chondrodysplasia Punctata, Autosomal Dominant MESH:C563248 MESH:D002806 C05.116.099.708.195/C563248 C05.116.099.708.195 Chondrodysplasia Punctata Due To Vitamin K Deficiency|Chondrodysplasia Punctata Due To Warfarin Teratogenicity Musculoskeletal disease Chondrodysplasia Punctata, Rhizomelic MESH:D018902 DO:DOID:2580 An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497) MESH:D002806|MESH:D018901 C05.116.099.708.195.200|C16.320.565.663.265|C18.452.648.663.265 C05.116.099.708.195|C16.320.565.663|C18.452.648.663 Chondrodysplasia Punctata, Rhizomelic Form|Chondrodysplasia Punctatas, Rhizomelic|Punctata, Rhizomelic Chondrodysplasia|Punctatas, Rhizomelic Chondrodysplasia|Rhizomelic Chondrodysplasia Punctata|Rhizomelic Chondrodysplasia Punctatas Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Chondrodysplasia Punctata Syndrome MESH:C565853 MESH:D002806 C05.116.099.708.195/C565853 C05.116.099.708.195 Musculoskeletal disease Chondrodysplasia Punctata, Tibia-Metacarpal Type MESH:C562961 MESH:D002806 C05.116.099.708.195/C562961 C05.116.099.708.195 Musculoskeletal disease Chondrodysplasia Punctata with Coagulation Factor Deficiency MESH:C564742 MESH:D002806|MESH:D020147 C05.116.099.708.195/C564742|C15.378.100.141/C564742 C05.116.099.708.195|C15.378.100.141 Blood disease|Musculoskeletal disease CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE OMIM:614078 DO:DOID:0112224 MESH:D007593|MESH:D010009 C05.116.099.708/614078|C05.550.521/614078|C16.320.728/614078 C05.116.099.708|C05.550.521|C16.320.728 GPAPP DEFICIENCY Genetic disease (inborn)|Musculoskeletal disease CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA OMIM:300863 DO:DOID:0112106 MESH:D006849|MESH:D008850|MESH:D010009|MESH:D059327 C05.116.099.708/300863|C05.660.585.262/300863|C10.228.140.602/300863|C11.250.566/300863|C16.131.384.666/300863|C16.131.621.585.262/300863|C16.320.728/300863 C05.116.099.708|C05.660.585.262|C10.228.140.602|C11.250.566|C16.131.384.666|C16.131.621.585.262|C16.320.728 Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome MESH:C565852 MESH:D002239|MESH:D007154|MESH:D009404 C12.050.351.968.419.630.643/C565852|C12.200.777.419.630.643/C565852|C12.950.419.630.643/C565852|C16.320.565.202/C565852|C18.452.648.202/C565852|C20/C565852 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643|C16.320.565.202|C18.452.648.202|C20 Genetic disease (inborn)|Immune system disease|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Chondroma MESH:D002812 DO:DOID:2602 A benign neoplasm derived from mesodermal cells that form cartilage. It may remain within the substance of a cartilage or bone (true chondroma or enchondroma) or may develop on the surface of a cartilage (ecchondroma or ecchondrosis). (Dorland, 27th ed; Stedman, 25th ed) MESH:D009372 C04.557.450.565.265 C04.557.450.565 Chondromas|Enchondroma|Enchondromas Cancer Chondromalacia Patellae MESH:D046789 DO:DOID:13357 A degeneration of the ARTICULAR CARTILAGE of the PATELLA, caused by a decrease in sulfated MUCOPOLYSACCHARIDES in the ground substance. When accompanied by pain, it is sometimes considered part of or confused with PATELLOFEMORAL PAIN SYNDROME. MESH:D002357 C05.182.100|C17.300.182.100 C05.182|C17.300.182 Patella, Chondromalacia Of Connective tissue disease|Musculoskeletal disease Chondromatosis MESH:D018210 Multiple formation of chondromas. (Dorland, 27th ed) MESH:D002812 C04.557.450.565.265.270 C04.557.450.565.265 Chondromatoses Cancer Chondromatosis, Synovial MESH:D015838 Rare, benign, chronic, progressive metaplasia in which cartilage is formed in the synovial membranes of joints, tendon sheaths, or bursae. Some of the metaplastic foci can become detached producing loose bodies. When the loose bodies undergo secondary calcification, the condition is called synovial osteochondromatosis. MESH:D007592 C05.550.287 C05.550 Chondromatoses, Synovial|Chondrometaplasias, Synovial|Chondrometaplasia, Synovial|Henderson Jones Syndrome|Henderson-Jones Syndrome|Osteochondromatoses, Synovial|Osteochondromatosis, Synovial|Reichel's Syndrome|Reichels Syndrome|Reichel Syndrome|Syndrome, Henderson-Jones|Syndrome, Reichel's|Synovial Chondromatoses|Synovial Chondromatosis|Synovial Chondrometaplasia|Synovial Chondrometaplasias|Synovial Osteochondromatoses|Synovial Osteochondromatosis Musculoskeletal disease Chondrosarcoma MESH:D002813 DO:DOID:3371|OMIM:215300 A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed) MESH:D009372|MESH:D012509 C04.557.450.565.280|C04.557.450.795.300 C04.557.450.565|C04.557.450.795 Chondrosarcomas Cancer Chondrosarcoma, Clear Cell MESH:D000077207 DO:DOID:5867 A chondrosarcoma of adolescence to old age of the proximal EPIPHYSES of long bones. It has variably clear cytoplasm of the mostly neoplastic CHONDROCYTES with little intervening matrix. MESH:D002813 C04.557.450.565.280.140|C04.557.450.795.300.140 C04.557.450.565.280|C04.557.450.795.300 Chondrosarcomas, Clear Cell|Clear Cell Chondrosarcoma|Clear Cell Chondrosarcomas Cancer Chondrosarcoma, Extraskeletal Myxoid MESH:C563195 DO:DOID:4549|OMIM:612237 MESH:D002813|MESH:D018204 C04.557.450.565.280/C563195|C04.557.450.795.300/C563195|C04.557.450/C563195 C04.557.450|C04.557.450.565.280|C04.557.450.795.300 EMC Cancer Chondrosarcoma, Mesenchymal MESH:D018211 DO:DOID:4545 A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456) MESH:D002813 C04.557.450.565.280.280|C04.557.450.795.300.280 C04.557.450.565.280|C04.557.450.795.300 Chondrosarcomas, Mesenchymal|Mesenchymal Chondrosarcoma|Mesenchymal Chondrosarcomas Cancer CHOPS SYNDROME OMIM:616368 MESH:D001848|MESH:D003072|MESH:D006343|MESH:D008171|MESH:D009765|MESH:D019066 C05.116.099/616368|C08.381/616368|C14.240.400.560/616368|C14.280.400.560/616368|C16.131.240.400.560/616368|C18.654.726.750.500/616368|C23.550.291.812/616368|C23.888.144.699.500/616368|F03.615.250/616368 C05.116.099|C08.381|C14.240.400.560|C14.280.400.560|C16.131.240.400.560|C18.654.726.750.500|C23.550.291.812|C23.888.144.699.500|F03.615.250 CHOPS|COGNITIVE IMPAIRMENT, COARSE FACIES, HEART DEFECTS, OBESITY, PULMONARY INVOLVEMENT, SHORT STATURE, AND SKELETAL DYSPLASIA Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Nutrition disorder|Pathology (process)|Respiratory tract disease|Signs and symptoms Chordoma MESH:D002817 DO:DOID:3302|OMIM:215400 A malignant tumor arising from the embryonic remains of the notochord. It is also called chordocarcinoma, chordoepithelioma, and notochordoma. (Dorland, 27th ed) MESH:D009373 C04.557.465.220 C04.557.465 CHDM|Chordomas|CHORDOMA, SUSCEPTIBILITY TO Cancer Chorea MESH:D002819 OMIM:118700 Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES. MESH:D020820 C10.228.662.262.249|C10.597.350.250|C23.888.592.350.250 C10.228.662.262|C10.597.350|C23.888.592.350 BCH|Benign Hereditary Chorea|Benign Hereditary Choreas|BHC|Chorea, Benign Hereditary|Chorea, Chronic Progressive|Chorea Disorder|Chorea Disorders|Chorea, Hereditary|Chorea, Rheumatic|Choreas|Choreas, Benign Hereditary|Choreas, Chronic Progressive|Chorea, Senile|Choreas, Hereditary|Choreas, Rheumatic|Choreas, Senile|Choreas, Sydenham|Chorea, Sydenham|Chorea, Sydenham's|Chorea Syndrome|Chorea Syndromes|Choreatic Disorder|Choreatic Disorders|Choreatic Syndrome|Choreatic Syndromes|Choreic Movement|Choreic Movements|Choreiform Movement|Choreiform Movements|Chronic Progressive Chorea|Chronic Progressive Choreas|Disorder, Chorea|Disorder, Choreatic|Disorders, Chorea|Disorders, Choreatic|Dyskinesia, Paroxysmal|Dyskinesias, Paroxysmal|Hereditary Chorea|Hereditary Chorea, Benign|Hereditary Choreas|Hereditary Choreas, Benign|Hereditary Progressive Chorea Without Dementia|Movement, Choreic|Movement, Choreiform|Movements, Choreic|Movements, Choreiform|Paroxysmal Dyskinesia|Paroxysmal Dyskinesias|Progressive Chorea, Chronic|Progressive Choreas, Chronic|Rheumatic Chorea|Rheumatic Choreas|Senile Chorea|Senile Choreas|St. Vitus Dance|St. Vitus's Dance|St. Vituss Dance|St. Vitus's Dances|Sydenham Chorea|Sydenham Choreas|Sydenham's Chorea|Sydenhams Chorea|Syndrome, Chorea|Syndrome, Choreatic|Syndromes, Chorea|Syndromes, Choreatic Nervous system disease|Signs and symptoms Chorea, Benign Familial MESH:C565851 MESH:D002819 C10.228.662.262.249/C565851|C10.597.350.250/C565851|C23.888.592.350.250/C565851 C10.228.662.262.249|C10.597.350.250|C23.888.592.350.250 Nervous system disease|Signs and symptoms CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION OMIM:616939 MESH:D002819|MESH:D011596 C10.228.662.262.249/616939|C10.597.350.250/616939|C10.597.606.881/616939|C23.888.592.350.250/616939|C23.888.592.604.882/616939 C10.228.662.262.249|C10.597.350.250|C10.597.606.881|C23.888.592.350.250|C23.888.592.604.882 COCPMR Nervous system disease|Signs and symptoms Chorea Gravidarum MESH:D020150 DO:DOID:14483 A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9) MESH:D001480|MESH:D002819|MESH:D011248 C10.228.140.079.294|C10.228.662.262.249.500|C12.050.703.141 C10.228.140.079|C10.228.662.262.249|C12.050.703 Chorea Gravidarums|Chorea, Pregnancy Induced|Chorea, Pregnancy-Induced|Choreas, Pregnancy-Induced|Choreoathetoses, Pregnancy-Associated|Choreoathetosis, Pregnancy Associated|Choreoathetosis, Pregnancy-Associated|Gravidarum, Chorea|Pregnancy-Associated Choreoathetoses|Pregnancy-Associated Choreoathetosis|Pregnancy-Induced Chorea|Pregnancy-Induced Choreas Nervous system disease|Pregnancy complication Chorea, remitting with nystagmus and cataracts MESH:C535355 MESH:D002819 C10.228.662.262.249/C535355|C10.597.350.250/C535355|C23.888.592.350.250/C535355 C10.228.662.262.249|C10.597.350.250|C23.888.592.350.250 Chorea, Remitting, with Nystagmus and Cataract|Familial remitting chorea, nystagmus and cataracts Nervous system disease|Signs and symptoms Choreoathetosis, Familial Inverted MESH:C566127 MESH:D001264|MESH:D002819 C10.228.662.262.249/C566127|C10.597.350.110/C566127|C10.597.350.250/C566127|C23.888.592.350.110/C566127|C23.888.592.350.250/C566127 C10.228.662.262.249|C10.597.350.110|C10.597.350.250|C23.888.592.350.110|C23.888.592.350.250 Infantile Choreoathetosis of Fisher Nervous system disease|Signs and symptoms Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress MESH:C567034 OMIM:610978 MESH:D001264|MESH:D002819|MESH:D003409|MESH:D012127 C05.116.099.343.347/C567034|C05.116.132.256/C567034|C08.381.840.500/C567034|C08.618.840.500/C567034|C10.228.662.262.249/C567034|C10.597.350.110/C567034|C10.597.350.250/C567034|C16.320.240.625/C567034|C16.614.521.563/C567034|C19.297.155/C567034|C19.874.482.281/C567034|C23.888.592.350.110/C567034|C23.888.592.350.250/C567034 C05.116.099.343.347|C05.116.132.256|C08.381.840.500|C08.618.840.500|C10.228.662.262.249|C10.597.350.110|C10.597.350.250|C16.320.240.625|C16.614.521.563|C19.297.155|C19.874.482.281|C23.888.592.350.110|C23.888.592.350.250 Brain-Lung-Thyroid Syndrome|CAHTP|Choreoathetosis And Congenital Hypothyroidism|CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION Endocrine system disease|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Choreoathetosis-Spasticity, Episodic MESH:C563401 OMIM:601042 MESH:D009128|MESH:D020820 C05.651.512/C563401|C10.228.662.262/C563401|C10.597.350/C563401|C10.597.613.550.550/C563401|C23.888.592.350/C563401|C23.888.592.608.550.550/C563401 C05.651.512|C10.228.662.262|C10.597.350|C10.597.613.550.550|C23.888.592.350|C23.888.592.608.550.550 Choreoathetosis, Kinesigenic, with Episodic Ataxia And Spasticity|Choreoathetosis, Paroxysmal, with Episodic Ataxia|CHOREOATHETOSIS/SPASTICITY, EPISODIC|CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA|Dystonia 9|DYT9 Musculoskeletal disease|Nervous system disease|Signs and symptoms Chorioamnionitis MESH:D002821 DO:DOID:0050697 INFLAMMATION of the placental membranes (CHORION; AMNION) and connected tissues such as fetal BLOOD VESSELS and UMBILICAL CORD. It is often associated with intrauterine ascending infections during PREGNANCY. MESH:D005315|MESH:D005322|MESH:D010922 C12.050.703.277.030|C12.050.703.420.339.260|C12.050.703.590.268|C16.300.030 C12.050.703.277|C12.050.703.420.339|C12.050.703.590|C16.300 Amnionitides|Amnionitis|Chorioamnionitides|Funisitides|Funisitis Fetal disease|Pregnancy complication Choriocarcinoma MESH:D002822 DO:DOID:3594 A malignant metastatic form of trophoblastic tumors. Unlike the HYDATIDIFORM MOLE, choriocarcinoma contains no CHORIONIC VILLI but rather sheets of undifferentiated cytotrophoblasts and syncytiotrophoblasts (TROPHOBLASTS). It is characterized by the large amounts of CHORIONIC GONADOTROPIN produced. Tissue origins can be determined by DNA analyses: placental (fetal) origin or non-placental origin (CHORIOCARCINOMA, NON-GESTATIONAL). MESH:D000230|MESH:D014328 C04.557.465.955.207|C04.557.470.200.025.455|C04.850.908.208|C12.050.703.720.949.208 C04.557.465.955|C04.557.470.200.025|C04.850.908|C12.050.703.720.949 Choriocarcinomas Cancer|Pregnancy complication Choriocarcinoma, Non-gestational MESH:D031954 DO:DOID:4320 A highly malignant CHORIOCARCINOMA derived from the non-placental origin such as the totipotent cells in the TESTIS, the OVARY, and the PINEAL GLAND. It produces high levels of CHORIONIC GONADOTROPIN and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis. MESH:D002822 C04.557.465.955.207.438|C04.557.470.200.025.455.750|C04.850.908.208.438|C12.050.703.720.949.208.438 C04.557.465.955.207|C04.557.470.200.025.455|C04.850.908.208|C12.050.703.720.949.208 Choriocarcinoma, Non gestational|Choriocarcinomas, Non-gestational|Non gestational Choriocarcinoma|Non-gestational Choriocarcinoma|Non-gestational Choriocarcinomas Cancer|Pregnancy complication Chorioretinal atrophy, progressive bifocal MESH:C535356 OMIM:600790 MESH:D003317 C11.204.236/C535356|C11.270.162/C535356|C16.320.290.162/C535356 C11.204.236|C11.270.162|C16.320.290.162 CRAPB Chorioretinal atrophy progressive bifocal|PBCRA|PBCRA Progressive bifocal chorioretinal atrophy|Progressive bifocal chorioretinal atrophy Eye disease|Genetic disease (inborn) Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism MESH:C565850 DO:DOID:0111265|OMIM:215470 MESH:D007006|MESH:D020754|MESH:D058499 C10.228.140.252.190.530/C565850|C10.228.140.252.700.700/C565850|C10.228.854.787.875/C565850|C10.574.500.825.700/C565850|C10.597.350.090.500.530/C565850|C11.768.585.658/C565850|C16.320.400.780.875/C565850|C19.391.482/C565850 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C11.768.585.658|C16.320.400.780.875|C19.391.482 BNHS|Boucher-Neuhauser Syndrome|SPINOCEREBELLAR ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, AND CHORIORETINAL DYSTROPHY Endocrine system disease|Eye disease|Genetic disease (inborn)|Nervous system disease Chorioretinitis MESH:D002825 DO:DOID:8886 Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The inflammatory cells and exudate may burst through the sensory retina to cloud the vitreous body. MESH:D002833|MESH:D012173 C11.768.773.348|C11.941.160.478.400|C11.941.879.780.900.300.318 C11.768.773|C11.941.160.478|C11.941.879.780.900.300 Chorioretinitides Eye disease Choristoma MESH:D002828 A mass of histologically normal tissue present in an abnormal location. MESH:D020763 C23.300.250 C23.300 Aberrant Tissue|Aberrant Tissues|Choristomas|Ectopic Tissue|Ectopic Tissues|Heterotopic Tissue|Heterotopic Tissues|Tissue, Aberrant|Tissue, Ectopic|Tissue, Heterotopic|Tissues, Aberrant|Tissues, Ectopic|Tissues, Heterotopic Pathology (anatomical condition) Choroidal Dystrophy, Central Areolar 2 MESH:C567750 OMIM:613105 MESH:D015862 C11.941.160/C567750 C11.941.160 CACD2|Central Areolar Choroidal Dystrophy-2|Macular Dystrophy, Progressive Eye disease Choroidal Dystrophy, Central Areolar 3 MESH:C567729 OMIM:613144 MESH:D015862 C11.941.160/C567729 C11.941.160 CACD3|CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 3|Choroidal Dystrophy, Central Areolar, With Or Without Drusen Eye disease Choroidal Effusions MESH:D000080324 Finding of fluid accumulation between the CHOROID and the SCLERA. MESH:D005124|MESH:D015862 C11.250.105|C11.941.160.241 C11.250|C11.941.160 Choroidal Detachment|Choroidal Detachments|Choroidal Effusion|Ciliochoroidal Detachment|Ciliochoroidal Detachments|Ciliochoroidal Effusion|Ciliochoroidal Effusions|Effusion, Choroidal|Effusion, Ciliochoroidal|Suprachoroidal Space Eye disease Choroidal Neovascularization MESH:D020256 A pathological process consisting of the formation of new blood vessels in the CHOROID. MESH:D009389|MESH:D015862 C11.941.160.244|C23.550.589.500.145 C11.941.160|C23.550.589.500 Choroidal Neovascularizations|Choroid Neovascularization|Choroid Neovascularizations|Neovascularization, Choroid|Neovascularization, Choroidal Eye disease|Pathology (process) Choroidal Osteoma, Bilateral MESH:C566124 MESH:D002828|MESH:D002830|MESH:D010016 C04.557.450.565.575.625/C566124|C04.588.364.978.223/C566124|C11.319.494.198/C566124|C11.941.160.238/C566124|C11.941.855.198/C566124|C23.300.250/C566124 C04.557.450.565.575.625|C04.588.364.978.223|C11.319.494.198|C11.941.160.238|C11.941.855.198|C23.300.250 Cancer|Eye disease|Pathology (anatomical condition) Choroidal sclerosis MESH:C535358 DO:DOID:980|OMIM:215500 MESH:D015862 C11.941.160/C535358 C11.941.160 CACD|CACD1|Central areolar choroidal sclerosis|Choroidal dystrophy central areolar|Choroidal Dystrophy, Central Areolar|Choroidal Dystrophy, Central Areolar 1|CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1|CHOROIDAL SCLEROSIS Eye disease Choroid Diseases MESH:D015862 DO:DOID:1417 Disorders of the choroid including hereditary choroidal diseases, neoplasms, and other abnormalities of the vascular layer of the uvea. MESH:D014603 C11.941.160 C11.941 Choroidal Disease|Choroidal Diseases|Choroid Disease|Disease, Choroid|Disease, Choroidal|Diseases, Choroid|Diseases, Choroidal Eye disease Choroideremia MESH:D015794 DO:DOID:9821|OMIM:303100 An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. MESH:D015785|MESH:D015862|MESH:D040181 C11.270.142|C11.941.160.300|C16.320.290.142|C16.320.322.092 C11.270|C11.941.160|C16.320.290|C16.320.322 CHM|Choroideremias|Dystrophies, Progressive Tapetochoroidal|Dystrophy, Progressive Tapetochoroidal|Progressive Tapetochoroidal Dystrophies|Progressive Tapetochoroidal Dystrophy|Tapetochoroidal Dystrophies, Progressive|Tapetochoroidal Dystrophy, Progressive|TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE;TCD CHOROIDAL SCLEROSIS, INCLUDED Eye disease|Genetic disease (inborn) Choroid Hemorrhage MESH:D002832 Hemorrhage from the vessels of the choroid. MESH:D005130|MESH:D015862 C11.290.195|C11.941.160.177|C23.550.414.756.300 C11.290|C11.941.160|C23.550.414.756 Choroidal Hemorrhage|Choroidal Hemorrhages|Hemorrhage, Choroid|Hemorrhage, Choroidal Eye disease|Pathology (process) Choroiditis MESH:D002833 DO:DOID:11406 Inflammation of the choroid. MESH:D015862|MESH:D015866 C11.941.160.478|C11.941.879.780.900.300 C11.941.160|C11.941.879.780.900 Choroiditides Eye disease Choroid Neoplasms MESH:D002830 DO:DOID:12759 Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi). MESH:D014604|MESH:D015862 C04.588.364.978.223|C11.319.494.198|C11.941.160.238|C11.941.855.198 C04.588.364.978|C11.319.494|C11.941.160|C11.941.855 Choroidal Neoplasm|Choroidal Neoplasms|Choroid Neoplasm|Neoplasm, Choroid|Neoplasm, Choroidal|Neoplasms, Choroid|Neoplasms, Choroidal Cancer|Eye disease Choroid plexus calcification with mental retardation MESH:C535357 MESH:D002114|MESH:D008607 C10.597.606.360/C535357|C18.452.174.130/C535357|C23.888.592.604.646/C535357|F03.625.539/C535357 C10.597.606.360|C18.452.174.130|C23.888.592.604.646|F03.625.539 Choroido-cerebral calcification syndrome with retardation|Choroid Plexus Calcification and Mental Retardation Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Choroid Plexus Carcinoma MESH:C562943 DO:DOID:5648 MESH:D002277|MESH:D016545 C04.557.470.200/C562943|C04.588.614.250.195.205.200/C562943|C10.228.140.211.280.300/C562943|C10.551.240.250.200.200/C562943 C04.557.470.200|C04.588.614.250.195.205.200|C10.228.140.211.280.300|C10.551.240.250.200.200 Cancer|Nervous system disease Choroid Plexus Neoplasms MESH:D016545 DO:DOID:3540 Benign or malignant tumors which arise from the choroid plexus of the ventricles of the brain. Papillomas (see PAPILLOMA, CHOROID PLEXUS) and carcinomas are the most common histologic subtypes, and tend to seed throughout the ventricular and subarachnoid spaces. Clinical features include headaches, ataxia and alterations of consciousness, primarily resulting from associated HYDROCEPHALUS. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072; J Neurosurg 1998 Mar;88(3):521-8) MESH:D002551 C04.588.614.250.195.205.200|C10.228.140.211.280.300|C10.551.240.250.200.200 C04.588.614.250.195.205|C10.228.140.211.280|C10.551.240.250.200 Choroid Plexus Neoplasm|Choroid Plexus Neoplasms, Primary|Choroid Plexus Tumor|Choroid Plexus Tumors|Neoplasm, Choroid Plexus|Neoplasms, Choroid Plexus|Primary Choroid Plexus Neoplasms Cancer|Nervous system disease Chromate Resistance MESH:C566125 MESH:D008661 C16.320.565/C566125|C18.452.648/C566125 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Chromoblastomycosis MESH:D002862 DO:DOID:1562 Scaly papule or warty growth, caused by five fungi, that spreads as a result of satellite lesions affecting the foot or leg. The extremity may become swollen and, at its distal portion, covered with various nodular, tumorous, verrucous lesions that resemble cauliflower. In rare instances, the disease may begin on the hand or wrist and involve the entire upper extremity. (Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p362) MESH:D003881 C01.150.703.302.110|C01.800.200.110|C17.800.838.208.241 C01.150.703.302|C01.800.200|C17.800.838.208 Chromoblastomycoses|Chromomycoses|Chromomycosis|Dermatitis Verrucosa Bacterial infection or mycosis|Skin disease Chromophobia MESH:C000719196 MESH:D010698 F03.080.725/C000719196 F03.080.725 Fear of colors|Fear of the color black|Fear of the color purple|Fear of the color white|Leukophobia|Melanophobia|Phobia, color black|Phobia, color purple|Phobia, colors|Phobia, color white|Porphyrophobia Mental disorder Chromosomal Instability MESH:D043171 An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. MESH:D002869|MESH:D042822 C23.550.210.110|C23.550.362.180 C23.550.210|C23.550.362 Chromosomal Instabilities|Chromosomal Stabilities|Chromosomal Stability|Chromosome Instabilities|Chromosome Instability|Chromosome Stabilities|Chromosome Stability|Instabilities, Chromosomal|Instabilities, Chromosome|Instability, Chromosomal|Instability, Chromosome|Stabilities, Chromosomal|Stabilities, Chromosome|Stability, Chromosomal|Stability, Chromosome Pathology (process) Chromosomal Instability with Tissue-Specific Radiosensitivity MESH:C565848 MESH:D008831|MESH:D009369|MESH:D043171 C04/C565848|C05.660.207.620/C565848|C10.500.507.400.500/C565848|C16.131.621.207.620/C565848|C16.131.666.507.400.500/C565848|C23.550.210.110/C565848|C23.550.362.180/C565848 C04|C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C23.550.210.110|C23.550.362.180 Cancer|Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process) Chromosome 10, monosomy 10q MESH:C538289 MESH:D002872 C23.550.210.050.500.500/C538289 C23.550.210.050.500.500 10q- deletion|Deletion 10q|Monosomy 10q|Terminal deletion of chromosome 10q Pathology (process) Chromosome 10q23 Deletion Syndrome MESH:C567385 DO:DOID:0060389 MESH:D002872|MESH:D018256 C04.557.470.035.215/C567385|C23.550.210.050.500.500/C567385 C04.557.470.035.215|C23.550.210.050.500.500 Cancer|Pathology (process) Chromosome 10q26 Deletion Syndrome MESH:C567182 DO:DOID:0060390 MESH:D002872|MESH:D007859|MESH:D019066 C10.597.606.150.550/C567182|C23.550.210.050.500.500/C567182|C23.550.291.812/C567182|C23.888.592.604.150.550/C567182|F03.625.562/C567182 C10.597.606.150.550|C23.550.210.050.500.500|C23.550.291.812|C23.888.592.604.150.550|F03.625.562 Terminal Chromosome 10q26 Deletion Syndrome Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 10q duplication syndrome MESH:C537804 MESH:D014314|MESH:D025063 C16.131.260/C537804|C16.320.180/C537804|C23.550.210.050.750/C537804|C23.550.210.182.500/C537804 C16.131.260|C16.320.180|C23.550.210.050.750|C23.550.210.182.500 10q duplication syndrome|10q Partial trisomy|Partial trisomy 10q|Trisomy 10q Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 10 ring MESH:C538086 MESH:D012303 C23.550.210.760/C538086 C23.550.210.760 Ring chromosome 10 Pathology (process) Chromosome 10, trisomy 10p MESH:C538290 MESH:D014314 C23.550.210.050.750/C538290|C23.550.210.182.500/C538290 C23.550.210.050.750|C23.550.210.182.500 Duplication 10p|Trisomy 10p Pathology (process) Chromosome 10, trisomy 10pter p13 MESH:C538291 MESH:D014314 C23.550.210.050.750/C538291|C23.550.210.182.500/C538291 C23.550.210.050.750|C23.550.210.182.500 Duplication 10pter p13|Trisomy 10pter p13 Pathology (process) Chromosome 10, uniparental disomy of MESH:C538292 MESH:D014314|MESH:D024182 C23.550.210.050.750/C538292|C23.550.210.182.500/C538292|C23.550.210.645.890/C538292 C23.550.210.050.750|C23.550.210.182.500|C23.550.210.645.890 Mosaic trisomy 10|Uniparental disomy of 10 Pathology (process) Chromosome 11, deletion 11p MESH:C538293 MESH:D002872 C23.550.210.050.500.500/C538293 C23.550.210.050.500.500 Deletion 11p|Monosomy 11p Pathology (process) Chromosome 11, partial trisomy 11q MESH:C538294 MESH:D014314 C23.550.210.050.750/C538294|C23.550.210.182.500/C538294 C23.550.210.050.750|C23.550.210.182.500 11q Partial Trisomy|Chromosome 11, Partial Trisomy 11q13-qter|Chromosome 11, Partial Trisomy 11q21-qter|Chromosome 11, Partial Trisomy 11q23-qter|Distal Trisomy 11q Pathology (process) Chromosome 11p Deletion Syndrome MESH:C541598 MESH:D002872|MESH:D017624 C04.557.435.595.950/C541598|C04.588.945.947.535.585.950/C541598|C04.700.900.950/C541598|C10.597.606.360.969/C541598|C11.250.060.950/C541598|C11.270.060.950/C541598|C11.941.375.060.950/C541598|C12.050.351.875.253.096.875/C541598|C12.050.351.937.820.535.585.950/C541598|C12.050.351.968.419.473.585.950/C541598|C12.200.706.316.096.875/C541598|C12.200.758.820.750.585.950/C541598|C12.200.777.419.473.585.950/C541598|C12.800.316.096.875/C541598|C12.900.820.535.585.950/C541598|C12.950.419.473.585.950/C541598|C12.950.983.535.585.950/C541598|C16.131.260.940/C541598|C16.131.384.079.950/C541598|C16.131.939.316.096.875/C541598|C16.320.180.940/C541598|C16.320.290.078.950/C541598|C16.320.700.900.950/C541598|C19.391.119.096.875/C541598|C23.550.210.050.500.500/C541598 C04.557.435.595.950|C04.588.945.947.535.585.950|C04.700.900.950|C10.597.606.360.969|C11.250.060.950|C11.270.060.950|C11.941.375.060.950|C12.050.351.875.253.096.875|C12.050.351.937.820.535.585.950|C12.050.351.968.419.473.585.950|C12.200.706.316.096.875|C12.200.758.820.750.585.950|C12.200.777.419.473.585.950|C12.800.316.096.875|C12.900.820.535.585.950|C12.950.419.473.585.950|C12.950.983.535.585.950|C16.131.260.940|C16.131.384.079.950|C16.131.939.316.096.875|C16.320.180.940|C16.320.290.078.950|C16.320.700.900.950|C19.391.119.096.875|C23.550.210.050.500.500 11p Deletion Syndrome Cancer|Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Chromosome 11p, partial deletion MESH:C538295 MESH:D002872 C23.550.210.050.500.500/C538295 C23.550.210.050.500.500 Deletion 11p 11p12|Deletion 11p13|Monosomy 11 p11 p12|Partial deletion 11p Pathology (process) Chromosome 11q partial deletion MESH:C538296 MESH:D002872 C23.550.210.050.500.500/C538296 C23.550.210.050.500.500 Deletion 11q partial|Monosomy 11q partial Pathology (process) Chromosome 11q trisomy MESH:C538297 MESH:D014314 C23.550.210.050.750/C538297|C23.550.210.182.500/C538297 C23.550.210.050.750|C23.550.210.182.500 Duplication 11q|Trisomy 11q Pathology (process) Chromosome 12, 12p trisomy MESH:C538299 MESH:D014314 C23.550.210.050.750/C538299|C23.550.210.182.500/C538299 C23.550.210.050.750|C23.550.210.182.500 Duplication 12p|Trisomy 12p Pathology (process) Chromosome 12p deletion MESH:C538301 MESH:D002872 C23.550.210.050.500.500/C538301 C23.550.210.050.500.500 Deletion 12p|Monosomy 12p Pathology (process) Chromosome 12p partial deletion MESH:C538302 MESH:D002872 C23.550.210.050.500.500/C538302 C23.550.210.050.500.500 12p monosomy, partial|Deletion 12p12 p11|Deletion 12p13|Monosomy 12p11|Monosomy 12p13 Pathology (process) Chromosome 12 ring MESH:C538298 MESH:D012303 C23.550.210.760/C538298 C23.550.210.760 Ring chromosome 12 Pathology (process) Chromosome 12, trisomy 12q MESH:C538300 MESH:D014314 C23.550.210.050.750/C538300|C23.550.210.182.500/C538300 C23.550.210.050.750|C23.550.210.182.500 Duplication 12q|Trisomy 12q Pathology (process) Chromosome 13p duplication MESH:C535450 MESH:D014314 C23.550.210.050.750/C535450|C23.550.210.182.500/C535450 C23.550.210.050.750|C23.550.210.182.500 Chromosome 13p, trisomy|Duplication 13p|Trisomy 13p Pathology (process) CHROMOSOME 13q14 DELETION SYNDROME OMIM:613884 DO:DOID:0060391 MESH:C535484|MESH:D002658|MESH:D008607|MESH:D012175|MESH:D019465 C04.557.465.625.600.725/613884|C04.557.470.670.725/613884|C04.557.580.625.600.725/613884|C04.588.364.818.760/613884|C05.660.207/613884|C10.597.606.360/613884|C11.270.862/613884|C11.319.475.760/613884|C11.768.717.760/613884|C16.131.260/C535484/613884|C16.131.621.207/613884|C16.320.180/C535484/613884|C23.550.210.050.500.500/C535484/613884|C23.888.592.604.646/613884|F03.625.421/613884|F03.625.539/613884 C04.557.465.625.600.725|C04.557.470.670.725|C04.557.580.625.600.725|C04.588.364.818.760|C05.660.207|C10.597.606.360|C11.270.862|C11.319.475.760|C11.768.717.760|C16.131.260/C535484|C16.131.621.207|C16.320.180/C535484|C23.550.210.050.500.500/C535484|C23.888.592.604.646|F03.625.421|F03.625.539 CHROMOSOME 13q DELETION SYNDROME Cancer|Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 13q-mosaicism MESH:C535486 MESH:D025063 C16.131.260/C535486|C16.320.180/C535486 C16.131.260|C16.320.180 Mosiacism of chromosome 13q Congenital abnormality|Genetic disease (inborn) Chromosome 13q trisomy MESH:C535485 MESH:D014314 C23.550.210.050.750/C535485|C23.550.210.182.500/C535485 C23.550.210.050.750|C23.550.210.182.500 Duplication 13q|Trisomy 13q Pathology (process) Chromosome 13 ring MESH:C538303 MESH:D012303 C23.550.210.760/C538303 C23.550.210.760 Ring chromosome 13 Pathology (process) Chromosome 14q, partial deletions MESH:C538031 MESH:D002872 C23.550.210.050.500.500/C538031 C23.550.210.050.500.500 Deletion 14q11|Deletion 14q31|Monosomy 14q11|Monosomy 14q31 Pathology (process) Chromosome 14q, proximal duplication MESH:C538032 MESH:D014314 C23.550.210.050.750/C538032|C23.550.210.182.500/C538032 C23.550.210.050.750|C23.550.210.182.500 Duplication 14q proximal|Trisomy 14q proximal Pathology (process) Chromosome 14q, terminal deletion MESH:C538033 MESH:D002872 C23.550.210.050.500.500/C538033 C23.550.210.050.500.500 Deletion 14qter|Monosomy 14qter Pathology (process) Chromosome 14q, terminal duplication MESH:C538034 MESH:D014314 C23.550.210.050.750/C538034|C23.550.210.182.500/C538034 C23.550.210.050.750|C23.550.210.182.500 Duplication 14qter|Trisomy 14qter Pathology (process) Chromosome 14 trisomy MESH:C535488 MESH:D014314 C23.550.210.050.750/C535488|C23.550.210.182.500/C535488 C23.550.210.050.750|C23.550.210.182.500 Trisomy 14 Pathology (process) Chromosome 14, trisomy mosaic MESH:C535489 MESH:D014314 C23.550.210.050.750/C535489|C23.550.210.182.500/C535489 C23.550.210.050.750|C23.550.210.182.500 Trisomy 14 mosaic|Trisomy 14 mosaicism|Trisomy 14 mosaicism syndrome Pathology (process) Chromosome 15q13.3 Microdeletion Syndrome MESH:C567439 DO:DOID:0060394|OMIM:612001 MESH:D002872|MESH:D008607|MESH:D012640|MESH:D025063 C10.597.606.360/C567439|C10.597.742/C567439|C16.131.260/C567439|C16.320.180/C567439|C23.550.210.050.500.500/C567439|C23.888.592.604.646/C567439|C23.888.592.742/C567439|F03.625.539/C567439 C10.597.606.360|C10.597.742|C16.131.260|C16.320.180|C23.550.210.050.500.500|C23.888.592.604.646|C23.888.592.742|F03.625.539 15q13.3 Microdeletion|15q13.3 Microdeletion Syndrome|Chromosome 15q13.3 Deletion Syndrome|CHROMOSOME 15q13.3 MICRODELETION SYNDROME|Microdeletion 15q13.3 Syndrome Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 15q26-Qter Deletion Syndrome MESH:C567232 DO:DOID:0060397 MESH:D000015|MESH:D006130|MESH:D008607|MESH:D008831 C05.660.207.620/C567232|C10.500.507.400.500/C567232|C10.597.606.360/C567232|C16.131.077/C567232|C16.131.621.207.620/C567232|C16.131.666.507.400.500/C567232|C23.550.393/C567232|C23.888.592.604.646/C567232|F03.625.539/C567232 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C16.131.077|C16.131.621.207.620|C16.131.666.507.400.500|C23.550.393|C23.888.592.604.646|F03.625.539 Drayer Syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 15q, partial deletion MESH:C538038 MESH:D002872 C23.550.210.050.500.500/C538038 C23.550.210.050.500.500 Deletion 15q1|Deletion 15q25|Monosomy 15q1|Monosomy 15q25 Pathology (process) Chromosome 15q, tetrasomy MESH:C538039 MESH:D000782 C23.550.210.050/C538039 C23.550.210.050 Tetrasomy 15q Pathology (process) Chromosome 15q, trisomy MESH:C538040 MESH:D014314 C23.550.210.050.750/C538040|C23.550.210.182.500/C538040 C23.550.210.050.750|C23.550.210.182.500 Duplication 15q|Trisomy 15q Pathology (process) Chromosome 15 ring MESH:C538035 MESH:D012303 C23.550.210.760/C538035 C23.550.210.760 Ring 15, Chromosome|Ring 15, Chromosome (mosaic pattern) Pathology (process) Chromosome 15, trisomy mosaicism MESH:C538037 MESH:D014314|MESH:D024182 C23.550.210.050.750/C538037|C23.550.210.182.500/C538037|C23.550.210.645.890/C538037 C23.550.210.050.750|C23.550.210.182.500|C23.550.210.645.890 Trisomy 15 mosaicism|Uniparental disomy of 15 Pathology (process) CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB OMIM:136570 DO:DOID:0060399 MESH:C565001 C05.660.207/C565001/136570|C14.240.400/C565001/136570|C14.280.400/C565001/136570|C16.131.240.400/C565001/136570|C16.131.260/C565001/136570|C16.131.621.207/C565001/136570|C16.320.180/C565001/136570|C23.550.210.050.500.500/C565001/136570|F03.625.421/C565001/136570|F03/C565001/136570 C05.660.207/C565001|C14.240.400/C565001|C14.280.400/C565001|C16.131.240.400/C565001|C16.131.260/C565001|C16.131.621.207/C565001|C16.320.180/C565001|C23.550.210.050.500.500/C565001|F03.625.421/C565001|F03/C565001 FRA16E,|FRA16E, INCLUDED|FRAGILE SITE 16p12, INCLUDED|FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(p12.1), INCLUDED Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Pathology (process) Chromosome 16p13.3 Deletion Syndrome MESH:C566433 MESH:D012415 C05.116.099.370.797/C566433|C05.660.207.850/C566433|C10.597.606.360.700/C566433|C16.131.077.804/C566433|C16.131.260.790/C566433|C16.131.621.207.850/C566433|C16.320.180.790/C566433 C05.116.099.370.797|C05.660.207.850|C10.597.606.360.700|C16.131.077.804|C16.131.260.790|C16.131.621.207.850|C16.320.180.790 RSTS, Severe|Rubinstein-Taybi Syndrome, Severe Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Chromosome 16, trisomy MESH:C538041 MESH:D014314 C23.550.210.050.750/C538041|C23.550.210.182.500/C538041 C23.550.210.050.750|C23.550.210.182.500 Mosaic trisomy 16|Trisomy 16 Pathology (process) Chromosome 16, trisomy 16q MESH:C538042 MESH:D014314 C23.550.210.050.750/C538042|C23.550.210.182.500/C538042 C23.550.210.050.750|C23.550.210.182.500 Duplication 16q|Trisomy 16q Pathology (process) Chromosome 16, uniparental disomy MESH:C538043 MESH:D024182 C23.550.210.645.890/C538043 C23.550.210.645.890 Uniparental disomy of 16 Pathology (process) Chromosome 17 deletion MESH:C538045 MESH:D002872|MESH:D058496 C10.281.900/C538045|C16.131.077.879/C538045|C16.131.260.887/C538045|C16.320.180.887/C538045|C23.550.210.050.500.500/C538045 C10.281.900|C16.131.077.879|C16.131.260.887|C16.320.180.887|C23.550.210.050.500.500 17p- Syndrome|Chromosome 17p Deletion Syndrome|Deletion 17p Syndrome|Interstitial deletion 17p|Partial Monosomy 17p Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (process) Chromosome 17, deletion 17q23 q24 MESH:C538047 MESH:D002872 C23.550.210.050.500.500/C538047 C23.550.210.050.500.500 Deletion 17q23 q24|Monosomy 17q23 q24 Pathology (process) CHROMOSOME 17p13.1 DELETION SYNDROME OMIM:613776 DO:DOID:0060402 MESH:C538045|MESH:D008607|MESH:D008831|MESH:D013064 C05.660.207.620/613776|C10.281.900/C538045/613776|C10.500.507.400.500/613776|C10.597.606.150.500.800/613776|C10.597.606.360/613776|C16.131.077.879/C538045/613776|C16.131.260.887/C538045/613776|C16.131.621.207.620/613776|C16.131.666.507.400.500/613776|C16.320.180.887/C538045/613776|C23.550.210.050.500.500/C538045/613776|C23.888.592.604.150.500.800/613776|C23.888.592.604.646/613776|F03.625.539/613776 C05.660.207.620|C10.281.900/C538045|C10.500.507.400.500|C10.597.606.150.500.800|C10.597.606.360|C16.131.077.879/C538045|C16.131.260.887/C538045|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.180.887/C538045|C23.550.210.050.500.500/C538045|C23.888.592.604.150.500.800|C23.888.592.604.646|F03.625.539 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 17p13.3 Duplication Syndrome MESH:C567705 DO:DOID:0060432 MESH:D002658|MESH:D009421|MESH:D025063|MESH:D058674 C10.500/C567705|C16.131.260/C567705|C16.131.666/C567705|C16.320.180/C567705|C23.550.210.182/C567705|F03.625.421/C567705 C10.500|C16.131.260|C16.131.666|C16.320.180|C23.550.210.182|F03.625.421 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process) CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB OMIM:613675 DO:DOID:0060403 MESH:C563524 C04.557.580.600.580.590/C563524/613675|C04.700.631/C563524/613675|C05.660.207/C563524/613675|C10.562.600/C563524/613675|C10.574.500.549/C563524/613675|C10.597.606.150.550/C563524/613675|C10.597.606.360/C563524/613675|C16.131.621.207/C563524/613675|C16.320.400.560/C563524/613675|C16.320.700.633/C563524/613675|C23.550.210.050.500.500/C563524/613675|C23.888.592.604.150.550/C563524/613675|C23.888.592.604.646/C563524/613675|F03.625.539/C563524/613675|F03.625.562/C563524/613675 C04.557.580.600.580.590/C563524|C04.700.631/C563524|C05.660.207/C563524|C10.562.600/C563524|C10.574.500.549/C563524|C10.597.606.150.550/C563524|C10.597.606.360/C563524|C16.131.621.207/C563524|C16.320.400.560/C563524|C16.320.700.633/C563524|C23.550.210.050.500.500/C563524|C23.888.592.604.150.550/C563524|C23.888.592.604.646/C563524|F03.625.539/C563524|F03.625.562/C563524 NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME|NF1 MICRODELETION SYNDROME|VAN ASPEREN SYNDROME Cancer|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 17q21.31 Deletion Syndrome MESH:C566476 OMIM:610443 MESH:D000015|MESH:D002872|MESH:D008607 C10.597.606.360/C566476|C16.131.077/C566476|C23.550.210.050.500.500/C566476|C23.888.592.604.646/C566476|F03.625.539/C566476 C10.597.606.360|C16.131.077|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.539 17q21.31 Deletion Syndrome|17q21.31 Microdeletion Syndrome|CHROMOSOME 17q21.31 DELETION SYNDROME|Chromosome 17q21.31 Microdeletion Syndrome|KDVS|Koolen-De Vries Syndrome|Koolen Syndrome|Microdeletion 17q21.31 Syndrome|Monosomy 17q21.31 Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 17 ring MESH:C538046 MESH:D012303 C23.550.210.760/C538046 C23.550.210.760 Ring chromosome 17 Pathology (process) Chromosome 17 trisomy MESH:C538044 MESH:D014314 C23.550.210.050.750/C538044|C23.550.210.182.500/C538044 C23.550.210.050.750|C23.550.210.182.500 Chromosome 17 duplication|Trisomy 17|Trisomy 17 mosaicism Pathology (process) Chromosome 17, trisomy 17p MESH:C538048 MESH:D014314 C23.550.210.050.750/C538048|C23.550.210.182.500/C538048 C23.550.210.050.750|C23.550.210.182.500 Duplication 17p|Trisomy 17p Pathology (process) Chromosome 17, trisomy 17q22 MESH:C536579 MESH:D014314 C23.550.210.050.750/C536579|C23.550.210.182.500/C536579 C23.550.210.050.750|C23.550.210.182.500 Duplication 17q|Trisomy 17q22 Pathology (process) Chromosome 18, deletion 18q23 MESH:C538305 MESH:D002872 C23.550.210.050.500.500/C538305 C23.550.210.050.500.500 Deletion 18q23|Monosomy 18q23 Pathology (process) Chromosome 18 deletion syndrome MESH:C536580 DO:DOID:0060407 MESH:D002872|MESH:D025063 C16.131.260/C536580|C16.320.180/C536580|C23.550.210.050.500.500/C536580 C16.131.260|C16.320.180|C23.550.210.050.500.500 18q syndrome|18q- Syndrome|Chromosome 18, monosomy 18Q|Chromosome 18q Deletion Syndrome|Chromosome 18q syndrome|Chromosome 18q- Syndrome|Monosomy 18q, deletion 18q|Monosomy 18q syndrome Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 18 mosaic monosomy MESH:C536581 MESH:D009006 C23.550.210.050.500/C536581 C23.550.210.050.500 Monosomy 18 mosaicism Pathology (process) Chromosome 18p deletion syndrome MESH:C538309 DO:DOID:0060406 MESH:D002872|MESH:D025063 C16.131.260/C538309|C16.320.180/C538309|C23.550.210.050.500.500/C538309 C16.131.260|C16.320.180|C23.550.210.050.500.500 18p deletion syndrome|18p minus syndrome|18p- syndrome|Del(18p) syndrome|Deletion 18p syndrome Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 18 Pericentric Inversion MESH:C563734 MESH:D001523|MESH:D006130|MESH:D008607|MESH:D019465 C05.660.207/C563734|C10.597.606.360/C563734|C16.131.621.207/C563734|C23.550.393/C563734|C23.888.592.604.646/C563734|F03.625.539/C563734|F03/C563734 C05.660.207|C10.597.606.360|C16.131.621.207|C23.550.393|C23.888.592.604.646|F03|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 18 ring MESH:C538304 MESH:D012303 C23.550.210.760/C538304 C23.550.210.760 ring 18 chromosome syndrome|Ring Chromosome 18 Pathology (process) Chromosome 18, tetrasomy 18p MESH:C538306 MESH:D000782 C23.550.210.050/C538306 C23.550.210.050 18p Isochromosome|18p Tetrasomy|Isochromosome 18p|Tetrasomy 18p|Tetrasomy, Short Arm of Chromosome 18 Pathology (process) Chromosome 18, trisomy 18p MESH:C538307 MESH:D014314 C23.550.210.050.750/C538307|C23.550.210.182.500/C538307 C23.550.210.050.750|C23.550.210.182.500 Duplication 18p|Trisomy 18p Pathology (process) Chromosome 18, trisomy 18q MESH:C538308 MESH:D014314 C23.550.210.050.750/C538308|C23.550.210.182.500/C538308 C23.550.210.050.750|C23.550.210.182.500 Duplication 18q|Trisomy 18q Pathology (process) Chromosome 19q13.11 Deletion Syndrome MESH:C567810 DO:DOID:0060408 MESH:D000015|MESH:D002872|MESH:D025063 C16.131.077/C567810|C16.131.260/C567810|C16.320.180/C567810|C23.550.210.050.500.500/C567810 C16.131.077|C16.131.260|C16.320.180|C23.550.210.050.500.500 Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 19 ring MESH:C538310 MESH:D012303 C23.550.210.760/C538310 C23.550.210.760 Ring chromosome 19 Pathology (process) Chromosome 19, trisomy 19q MESH:C538311 MESH:D014314 C23.550.210.050.750/C538311|C23.550.210.182.500/C538311 C23.550.210.050.750|C23.550.210.182.500 Duplication 19q|Trisomy 19q Pathology (process) Chromosome 1, deletion q21 q25 MESH:C535363 MESH:D002872 C23.550.210.050.500.500/C535363 C23.550.210.050.500.500 Deletion 1q21 q25|Monosomy 1q21 q25 Pathology (process) Chromosome 1, duplication 1p21 p32 MESH:C535364 MESH:D014314 C23.550.210.050.750/C535364|C23.550.210.182.500/C535364 C23.550.210.050.750|C23.550.210.182.500 Duplication 1p21 p32|Trisomy 1p21 p32 Pathology (process) Chromosome 1, monosomy 1p MESH:C535591 MESH:D002872 C23.550.210.050.500.500/C535591 C23.550.210.050.500.500 Deletion 1p|Monosomy 1p Pathology (process) Chromosome 1, monosomy 1p22 p13 MESH:C535592 MESH:D002872 C23.550.210.050.500.500/C535592 C23.550.210.050.500.500 Deletion 1p22 p13|Monosomy 1p22 p13 Pathology (process) Chromosome 1, monosomy 1p31 p22 MESH:C535593 MESH:D002872 C23.550.210.050.500.500/C535593 C23.550.210.050.500.500 Deletion 1p31 p22|Monosomy 1p31 p22 Pathology (process) Chromosome 1, monosomy 1p32 MESH:C535594 DO:DOID:0060409 MESH:D002872 C23.550.210.050.500.500/C535594 C23.550.210.050.500.500 Deletion 1p32|Monosomy 1p32 Pathology (process) Chromosome 1, monosomy 1p34 p32 MESH:C535595 MESH:D002872 C23.550.210.050.500.500/C535595 C23.550.210.050.500.500 Deletion 1p34 p32|Monosomy 1p34 p32 Pathology (process) Chromosome 1, monosomy 1q25 q32 MESH:C535596 MESH:D002872 C23.550.210.050.500.500/C535596 C23.550.210.050.500.500 Deletion 1q25 q32|Monosomy 1q25 q32 Pathology (process) Chromosome 1, monosomy 1q32 q42 MESH:C537671 MESH:D002872 C23.550.210.050.500.500/C537671 C23.550.210.050.500.500 Deletion 1q32 q42|Monosomy 1q32 q42 Pathology (process) Chromosome 1, monosomy 1q4 MESH:C537672 MESH:D002872 C23.550.210.050.500.500/C537672 C23.550.210.050.500.500 Deletion 1q4|Monosomy 1q4 Pathology (process) Chromosome 1p36 Deletion Syndrome MESH:C535362 DO:DOID:0060410 MESH:D002872|MESH:D025063 C16.131.260/C535362|C16.320.180/C535362|C23.550.210.050.500.500/C535362 C16.131.260|C16.320.180|C23.550.210.050.500.500 1p36.33 deletion|1p36 deletion syndrome|Chromosome 1, 1p36 deletion syndrome|Deletion 1p36.33|Monosomy 1p36 syndrome Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb MESH:C567291 OMIM:612474 MESH:D000015|MESH:D002872|MESH:D058627 C05.660.207.536/C567291|C10.500.507.400.249/C567291|C16.131.077/C567291|C16.131.621.207.532/C567291|C16.131.666.507.400.249/C567291|C23.550.210.050.500.500/C567291 C05.660.207.536|C10.500.507.400.249|C16.131.077|C16.131.621.207.532|C16.131.666.507.400.249|C23.550.210.050.500.500 1q21.1 Contiguous Gene Deletion|1q21.1 Deletion|1q21.1 Microdeletion|Chromosome 1q21.1 Deletion Syndrome Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process) Chromosome 1q21.1 Duplication Syndrome MESH:C567290 DO:DOID:0060435 MESH:D001321|MESH:D002872|MESH:D006330|MESH:D008607 C10.597.606.360/C567290|C14.240.400/C567290|C14.280.400/C567290|C16.131.240.400/C567290|C23.550.210.050.500.500/C567290|C23.888.592.604.646/C567290|F03.625.164.113.500/C567290|F03.625.539/C567290 C10.597.606.360|C14.240.400|C14.280.400|C16.131.240.400|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.164.113.500|F03.625.539 Cardiovascular disease|Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 1, q42 11 q42 12 duplication MESH:C538082 MESH:D014314 C23.550.210.050.750/C538082|C23.550.210.182.500/C538082 C23.550.210.050.750|C23.550.210.182.500 Duplication 1q42 11 q42 12|Trisomy 1q42 11 q42 12 Pathology (process) Chromosome 1q43-Q44 Deletion Syndrome MESH:C567346 MESH:D000015|MESH:D002872|MESH:D008607 C10.597.606.360/C567346|C16.131.077/C567346|C23.550.210.050.500.500/C567346|C23.888.592.604.646/C567346|F03.625.539/C567346 C10.597.606.360|C16.131.077|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.539 Chromosome 1qter Deletion Syndrome Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 1q, duplication 1q12 q21 MESH:C538312 MESH:D014314 C23.550.210.050.750/C538312|C23.550.210.182.500/C538312 C23.550.210.050.750|C23.550.210.182.500 Duplication 1q12 q21 Pathology (process) Chromosome 1 ring MESH:C535361 MESH:D012303 C23.550.210.760/C535361 C23.550.210.760 Ring chromosome 1 Pathology (process) Chromosome 1, trisomy 1q32 qter MESH:C538083 MESH:D014314 C23.550.210.050.750/C538083|C23.550.210.182.500/C538083 C23.550.210.050.750|C23.550.210.182.500 Duplication 1q32 qter|Trisomy 1q32 qter Pathology (process) Chromosome 1, trisomy 1q42 qter MESH:C538084 MESH:D014314 C23.550.210.050.750/C538084|C23.550.210.182.500/C538084 C23.550.210.050.750|C23.550.210.182.500 Duplication 1q42 qter|Trisomy 1q42 qter Pathology (process) Chromosome 1, uniparental disomy 1q12 q21 MESH:C538085 MESH:D014314|MESH:D024182 C23.550.210.050.750/C538085|C23.550.210.182.500/C538085|C23.550.210.645.890/C538085 C23.550.210.050.750|C23.550.210.182.500|C23.550.210.645.890 Mosaic trisomy 1q12 q21|Uniparental disomy 1q12 q21 Pathology (process) Chromosome 20, deletion 20p MESH:C535370 MESH:D002872 C23.550.210.050.500.500/C535370 C23.550.210.050.500.500 Deletion 20p|Monosomy 20p Pathology (process) CHROMOSOME 20q11-q12 DELETION SYNDROME OMIM:614257 DO:DOID:0070041 MESH:D002872|MESH:D008607 C10.597.606.360/614257|C23.550.210.050.500.500/614257|C23.888.592.604.646/614257|F03.625.539/614257 C10.597.606.360|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 11, INCLUDED|MENTAL RETARDATION, AUTOSOMAL DOMINANT 11, INCLUDED|MRD11, INCLUDED Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 20 ring MESH:C535369 MESH:D012303 C23.550.210.760/C535369 C23.550.210.760 Pathology (process) Chromosome 20, trisomy MESH:C535372 MESH:D014314 C23.550.210.050.750/C535372|C23.550.210.182.500/C535372 C23.550.210.050.750|C23.550.210.182.500 Chromosome 20 duplication|Trisomy 20|Trisomy 20 mosaicism Pathology (process) Chromosome 21 monosomy MESH:C537108 MESH:D009006 C23.550.210.050.500/C537108 C23.550.210.050.500 Monosomy 21 Pathology (process) Chromosome 21, monosomy 21q22 MESH:C537110 MESH:D002872 C23.550.210.050.500.500/C537110 C23.550.210.050.500.500 Deletion 21q22|Monosomy 21q22 Pathology (process) Chromosome 21 ring MESH:C537109 MESH:D012303 C23.550.210.760/C537109 C23.550.210.760 Ring 21, Chromosome Pathology (process) Chromosome 21, tetrasomy 21q MESH:C536793 MESH:D000782 C23.550.210.050/C536793 C23.550.210.050 Tetrasomy 21q Pathology (process) Chromosome 21, uniparental disomy of MESH:C536794 MESH:D014314|MESH:D024182 C23.550.210.050.750/C536794|C23.550.210.182.500/C536794|C23.550.210.645.890/C536794 C23.550.210.050.750|C23.550.210.182.500|C23.550.210.645.890 Mosaic trisomy 21|Uniparental disomy of 21 Pathology (process) Chromosome 22, microdeletion 22 q11 MESH:C536797 MESH:D002872 C23.550.210.050.500.500/C536797 C23.550.210.050.500.500 Microdeletion 22 q11 Pathology (process) Chromosome 22, monosome mosaic MESH:C536798 MESH:D025063 C16.131.260/C536798|C16.320.180/C536798 C16.131.260|C16.320.180 Chromosome 22 mosaic monosomy|Mosaic Monosome 22 Congenital abnormality|Genetic disease (inborn) Chromosome 22q11.2 Deletion Syndrome, Distal MESH:C567511 DO:DOID:0060413 MESH:D000015|MESH:D002872|MESH:D004062 C05.660.207.103.500/C567511|C14.240.400.021.500/C567511|C14.280.400.044.500/C567511|C15.604.451.249.500/C567511|C16.131.077.019.500/C567511|C16.131.077/C567511|C16.131.240.400.021.500/C567511|C16.131.260.019.500/C567511|C16.131.482.249.500/C567511|C16.131.621.207.103.500/C567511|C16.320.180.019.500/C567511|C19.642.482.500.500/C567511|C23.550.210.050.500.500/C567511 C05.660.207.103.500|C14.240.400.021.500|C14.280.400.044.500|C15.604.451.249.500|C16.131.077|C16.131.077.019.500|C16.131.240.400.021.500|C16.131.260.019.500|C16.131.482.249.500|C16.131.621.207.103.500|C16.320.180.019.500|C19.642.482.500.500|C23.550.210.050.500.500 Distal Chromosome 22q11.2 Deletion Syndrome Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Lymphatic disease|Musculoskeletal disease|Pathology (process) Chromosome 22q11.2 Microduplication Syndrome MESH:C567224 DO:DOID:0060436 MESH:D000015|MESH:D004062|MESH:D058674 C05.660.207.103.500/C567224|C14.240.400.021.500/C567224|C14.280.400.044.500/C567224|C15.604.451.249.500/C567224|C16.131.077.019.500/C567224|C16.131.077/C567224|C16.131.240.400.021.500/C567224|C16.131.260.019.500/C567224|C16.131.482.249.500/C567224|C16.131.621.207.103.500/C567224|C16.320.180.019.500/C567224|C19.642.482.500.500/C567224|C23.550.210.182/C567224 C05.660.207.103.500|C14.240.400.021.500|C14.280.400.044.500|C15.604.451.249.500|C16.131.077|C16.131.077.019.500|C16.131.240.400.021.500|C16.131.260.019.500|C16.131.482.249.500|C16.131.621.207.103.500|C16.320.180.019.500|C19.642.482.500.500|C23.550.210.182 22q11.2 Duplication|Chromosome 22q11.2 Duplication Syndrome Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Lymphatic disease|Musculoskeletal disease|Pathology (process) Chromosome 22 ring MESH:C536795 MESH:D012303 C23.550.210.760/C536795 C23.550.210.760 Ring 22, Chromosome Pathology (process) Chromosome 22, trisomy MESH:C536799 MESH:D014314 C23.550.210.050.750/C536799|C23.550.210.182.500/C536799 C23.550.210.050.750|C23.550.210.182.500 Duplication 22|Trisomy 22 Pathology (process) Chromosome 22, trisomy q11 q13 MESH:C536800 MESH:D014314 C23.550.210.050.750/C536800|C23.550.210.182.500/C536800 C23.550.210.050.750|C23.550.210.182.500 Duplication 22q11 q13|Trisomy 22q11 q13 Pathology (process) Chromosome 2, monosomy 2p22 MESH:C538313 MESH:D002872 C23.550.210.050.500.500/C538313 C23.550.210.050.500.500 Deletion 2p22|Monosomy 2p22 Pathology (process) Chromosome 2, monosomy 2pter p24 MESH:C538314 MESH:D002872 C23.550.210.050.500.500/C538314 C23.550.210.050.500.500 Deletion 2pter p24|Monosomy 2pter p24 Pathology (process) Chromosome 2, monosomy 2q MESH:C538315 MESH:D002872 C23.550.210.050.500.500/C538315 C23.550.210.050.500.500 Deletion 2q|Monosomy 2q Pathology (process) Chromosome 2, monosomy 2q24 MESH:C538316 MESH:D002872 C23.550.210.050.500.500/C538316 C23.550.210.050.500.500 Deletion 2q24|Monosomy 2q24 Pathology (process) Chromosome 2p16.1-P15 Deletion Syndrome MESH:C567289 DO:DOID:0060415 MESH:D000015|MESH:D002872|MESH:D019465 C05.660.207/C567289|C16.131.077/C567289|C16.131.621.207/C567289|C23.550.210.050.500.500/C567289 C05.660.207|C16.131.077|C16.131.621.207|C23.550.210.050.500.500 Congenital abnormality|Musculoskeletal disease|Pathology (process) CHROMOSOME 2p16.3 DELETION SYNDROME OMIM:614332 MESH:D002872 C23.550.210.050.500.500/614332 C23.550.210.050.500.500 SCHIZOPHRENIA 17, INCLUDED|SCZD17, INCLUDED Pathology (process) Chromosome 2q31.2 Deletion Syndrome MESH:C567344 DO:DOID:0060416 MESH:D000015|MESH:D002872|MESH:D008607|MESH:D019465 C05.660.207/C567344|C10.597.606.360/C567344|C16.131.077/C567344|C16.131.621.207/C567344|C23.550.210.050.500.500/C567344|C23.888.592.604.646/C567344|F03.625.539/C567344 C05.660.207|C10.597.606.360|C16.131.077|C16.131.621.207|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 2q32-Q33 Deletion Syndrome MESH:C567350 DO:DOID:0060428|OMIM:612313 MESH:D000015|MESH:D002872|MESH:D008607 C10.597.606.360/C567350|C16.131.077/C567350|C23.550.210.050.500.500/C567350|C23.888.592.604.646/C567350|F03.625.539/C567350 C10.597.606.360|C16.131.077|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.539 CHROMOSOME 2q32-q33 DELETION SYNDROME|GLASS|GLASS SYNDROME Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 2q37 deletion syndrome MESH:C538317 DO:DOID:0111704|OMIM:600430 MESH:D002872 C23.550.210.050.500.500/C538317 C23.550.210.050.500.500 2q37 deletion syndrome|Albright hereditary osteodystrophy-like syndrome|BDMR|Brachydactyly-Mental Retardation syndrome|Chromosome 2, monosomy 2q37|Deletion 2q37|Monosomy 2q37 Pathology (process) Chromosome 2, trisomy 2p MESH:C538318 MESH:D014314 C23.550.210.050.750/C538318|C23.550.210.182.500/C538318 C23.550.210.050.750|C23.550.210.182.500 Duplication 2p|Trisomy 2p Pathology (process) Chromosome 2, trisomy 2p13 p21 MESH:C535365 MESH:D014314 C23.550.210.050.750/C535365|C23.550.210.182.500/C535365 C23.550.210.050.750|C23.550.210.182.500 Duplication 2p13 p21|Trisomy 2p13 p21 Pathology (process) Chromosome 2, trisomy 2pter p24 MESH:C535366 MESH:D014314 C23.550.210.050.750/C535366|C23.550.210.182.500/C535366 C23.550.210.050.750|C23.550.210.182.500 Duplication 2pter p24|Trisomy 2pter p24 Pathology (process) Chromosome 2, trisomy 2q MESH:C535367 MESH:D014314 C23.550.210.050.750/C535367|C23.550.210.182.500/C535367 C23.550.210.050.750|C23.550.210.182.500 Duplication 2q|Trisomy 2q Pathology (process) Chromosome 2, trisomy 2q37 MESH:C535368 MESH:D014314 C23.550.210.050.750/C535368|C23.550.210.182.500/C535368 C23.550.210.050.750|C23.550.210.182.500 Duplication 2q37|Trisomy 2q37 Pathology (process) Chromosome 3 duplication syndrome MESH:C536803 MESH:D014314|MESH:D025063 C16.131.260/C536803|C16.320.180/C536803|C23.550.210.050.750/C536803|C23.550.210.182.500/C536803 C16.131.260|C16.320.180|C23.550.210.050.750|C23.550.210.182.500 Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 3-Linked Frontotemporal Dementia MESH:C579991 DO:DOID:0111227 MESH:D057180 C10.228.140.380.266.299/C579991|C10.574.950.300.299/C579991|C18.452.845.800.300.299/C579991|F03.615.400.380.299/C579991 C10.228.140.380.266.299|C10.574.950.300.299|C18.452.845.800.300.299|F03.615.400.380.299 Amyotrophic Lateral Sclerosis, Chmp2B-Related|Chmp2b-Related Frontotemporal Dementia|Dementia, Familial Nonspecific|Dtm1|Frontotemporal Dementia, Chromosome 3-Linked|Ftd-3|Ftd3|Ftd-Chmp2b Mental disorder|Metabolic disease|Nervous system disease Chromosome 3, monosomy 3p MESH:C536804 MESH:D002872 C23.550.210.050.500.500/C536804 C23.550.210.050.500.500 Chromosome 3, deletion 3p|Deletion 3p|Monosomy 3p Pathology (process) Chromosome 3, monosomy 3p14 p11 MESH:C536805 MESH:D002872 C23.550.210.050.500.500/C536805 C23.550.210.050.500.500 Deletion 3p14 p11|Monosomy 3p14 p11 Pathology (process) Chromosome 3, monosomy 3p2 MESH:C536806 MESH:D002872 C23.550.210.050.500.500/C536806 C23.550.210.050.500.500 Chromosome 3, deletion of distal 3p|Chromosome 3, distal 3p monosomy|Chromosome 3 distal deletion|Monosomy 3p2 Pathology (process) Chromosome 3, monosomy 3p25 MESH:C536807 MESH:D002872 C23.550.210.050.500.500/C536807 C23.550.210.050.500.500 Deletion 3p25|Monosomy 3p25 Pathology (process) Chromosome 3, monosomy 3q13 MESH:C536808 DO:DOID:0060418 MESH:D002872 C23.550.210.050.500.500/C536808 C23.550.210.050.500.500 Deletion 3q13|Monosomy 3q13 Pathology (process) Chromosome 3, monosomy 3q21 23 MESH:C536809 MESH:D002872 C23.550.210.050.500.500/C536809 C23.550.210.050.500.500 Deletion 3q21 23|Monosomy 3q21 23 Pathology (process) Chromosome 3, monosomy 3q27 MESH:C536810 MESH:D002872 C23.550.210.050.500.500/C536810 C23.550.210.050.500.500 Deletion 3q27|Monosomy 3q27 Pathology (process) CHROMOSOME 3pter-p25 DELETION SYNDROME OMIM:613792 DO:DOID:0060417 MESH:D000015|MESH:D002872|MESH:D006130|MESH:D008831|MESH:D011596 C05.660.207.620/613792|C10.500.507.400.500/613792|C10.597.606.881/613792|C16.131.077/613792|C16.131.621.207.620/613792|C16.131.666.507.400.500/613792|C23.550.210.050.500.500/613792|C23.550.393/613792|C23.888.592.604.882/613792 C05.660.207.620|C10.500.507.400.500|C10.597.606.881|C16.131.077|C16.131.621.207.620|C16.131.666.507.400.500|C23.550.210.050.500.500|C23.550.393|C23.888.592.604.882 3p- SYNDROME Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 3q29 Deletion Syndrome MESH:C567184 DO:DOID:0060419 MESH:D002658|MESH:D002872|MESH:D008607 C10.597.606.360/C567184|C23.550.210.050.500.500/C567184|C23.888.592.604.646/C567184|F03.625.421/C567184|F03.625.539/C567184 C10.597.606.360|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.421|F03.625.539 Microdeletion 3q29 Syndrome Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 3q29 Duplication Syndrome MESH:C567626 DO:DOID:0060459 MESH:D025063|MESH:D058674 C16.131.260/C567626|C16.320.180/C567626|C23.550.210.182/C567626 C16.131.260|C16.320.180|C23.550.210.182 Microduplication 3q29 Syndrome Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 3, trisomy 3p MESH:C536811 MESH:D014314 C23.550.210.050.750/C536811|C23.550.210.182.500/C536811 C23.550.210.050.750|C23.550.210.182.500 Duplication 3p|Trisomy 3p Pathology (process) Chromosome 3, trisomy 3p25 MESH:C536812 MESH:D014314 C23.550.210.050.750/C536812|C23.550.210.182.500/C536812 C23.550.210.050.750|C23.550.210.182.500 Duplication 3p25|Trisomy 3p25 Pathology (process) Chromosome 3, trisomy 3q MESH:C536813 MESH:D014314 C23.550.210.050.750/C536813|C23.550.210.182.500/C536813 C23.550.210.050.750|C23.550.210.182.500 Duplication 3q|Trisomy 3q Pathology (process) Chromosome 3, trisomy 3q13 2 q25 MESH:C537634 MESH:D014314 C23.550.210.050.750/C537634|C23.550.210.182.500/C537634 C23.550.210.050.750|C23.550.210.182.500 Duplication 3q13.2 q25|Trisomy 3q13 2 q25 Pathology (process) Chromosome 4, 4q Terminal Deletion Syndrome MESH:C537641 MESH:D002872|MESH:D025063 C16.131.260/C537641|C16.320.180/C537641|C23.550.210.050.500.500/C537641 C16.131.260|C16.320.180|C23.550.210.050.500.500 Chromosome 4, Deletion 4q31-qter Syndrome|Chromosome 4, Deletion 4q32-qter Syndrome|Chromosome 4, Deletion 4q33-qter Syndrome|Chromosome 4, monosomy distal 4q|Chromosome 4, Partial Monosomy of Distal 4q Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 4, monosomy 4p14 p16 MESH:C537638 MESH:D002872 C23.550.210.050.500.500/C537638 C23.550.210.050.500.500 Deletion 4p14 p16|Monosomy 4p14 p16 Pathology (process) Chromosome 4, monosomy 4q32 MESH:C537640 MESH:D002872 C23.550.210.050.500.500/C537640 C23.550.210.050.500.500 Deletion 4q32|Monosomy 4q32 Pathology (process) Chromosome 4, partial trisomy distal 4q MESH:C537642 MESH:D014314 C23.550.210.050.750/C537642|C23.550.210.182.500/C537642 C23.550.210.050.750|C23.550.210.182.500 Chromosome 4, partial trisomy 4 (q25-qter)|Chromosome 4, partial trisomy 4 (q26 or q27-qter)|Chromosome 4, partial Trisomy 4 (q31 or 32-qter) Pathology (process) Chromosome 4q- Syndrome MESH:C537639 MESH:D002872|MESH:D025063 C16.131.260/C537639|C16.320.180/C537639|C23.550.210.050.500.500/C537639 C16.131.260|C16.320.180|C23.550.210.050.500.500 Chromosome 4 Long Arm Deletion|Chromosome 4, monosomy 4q|Deletion 4q|Monosomy 4q Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 4 short arm deletion MESH:C537637 MESH:D002872 C23.550.210.050.500.500/C537637 C23.550.210.050.500.500 Chromosome 4p deletion|Deletion 4p|Monosomy 4p Pathology (process) Chromosome 4, trisomy 4q MESH:C537644 MESH:D014314 C23.550.210.050.750/C537644|C23.550.210.182.500/C537644 C23.550.210.050.750|C23.550.210.182.500 Duplication 4q|Trisomy 4q Pathology (process) Chromosome 4, trisomy 4q21 MESH:C537645 MESH:D014314 C23.550.210.050.750/C537645|C23.550.210.182.500/C537645 C23.550.210.050.750|C23.550.210.182.500 Duplication 4q21|Trisomy 4q21 Pathology (process) Chromosome 4, trisomy 4q25 qter MESH:C537646 MESH:D014314 C23.550.210.050.750/C537646|C23.550.210.182.500/C537646 C23.550.210.050.750|C23.550.210.182.500 Duplication 4q25 qter|Trisomy 4q25 qter Pathology (process) Chromosome 5, monosomy 5q35 MESH:C537647 MESH:D003410|MESH:D014314 C10.597.606.360.180/C537647|C16.131.077.262/C537647|C16.131.260.190/C537647|C16.320.180.190/C537647|C23.550.210.050.750/C537647|C23.550.210.182.500/C537647 C10.597.606.360.180|C16.131.077.262|C16.131.260.190|C16.320.180.190|C23.550.210.050.750|C23.550.210.182.500 Deletion 5q35|Monosomy 5q35 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (process) Chromosome 5p13 Duplication Syndrome MESH:C567717 DO:DOID:0060460 MESH:D000015|MESH:D019066|MESH:D025063|MESH:D058674 C16.131.077/C567717|C16.131.260/C567717|C16.320.180/C567717|C23.550.210.182/C567717|C23.550.291.812/C567717 C16.131.077|C16.131.260|C16.320.180|C23.550.210.182|C23.550.291.812 Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 5q Deletion Syndrome MESH:C535323 DO:DOID:0090016|OMIM:153550 MESH:D000748|MESH:D002872 C15.378.071.252/C535323|C23.550.210.050.500.500/C535323 C15.378.071.252|C23.550.210.050.500.500 5q deletion syndrome|5q- syndrome|Macrocytic Anemia, Refractory, Due To 5q Deletion|MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5q DELETION;MAR MEGAKARYOCYTES, UNILOBULAR NUCLEATED, INCLUDED|Refractory macrocytic anemia due to 5q deletion Blood disease|Pathology (process) Chromosome 5, trisomy 5p MESH:C537648 MESH:D003410 C10.597.606.360.180/C537648|C16.131.077.262/C537648|C16.131.260.190/C537648|C16.320.180.190/C537648 C10.597.606.360.180|C16.131.077.262|C16.131.260.190|C16.320.180.190 Chromosome 5p syndrome|Chromosome 5, Trisomy 5p, Complete (5p11-pter)|Chromosome 5, Trisomy 5p, Partial (5p13 or 14-pter) Congenital abnormality|Genetic disease (inborn)|Nervous system disease Chromosome 5, trisomy 5pter p13 3 MESH:C537649 MESH:D003410|MESH:D014314 C10.597.606.360.180/C537649|C16.131.077.262/C537649|C16.131.260.190/C537649|C16.320.180.190/C537649|C23.550.210.050.750/C537649|C23.550.210.182.500/C537649 C10.597.606.360.180|C16.131.077.262|C16.131.260.190|C16.320.180.190|C23.550.210.050.750|C23.550.210.182.500 Duplication 5pter p13.3|Trisomy 5pter p13 3 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (process) Chromosome 5, trisomy 5q MESH:C537650 MESH:D003410|MESH:D014314 C10.597.606.360.180/C537650|C16.131.077.262/C537650|C16.131.260.190/C537650|C16.320.180.190/C537650|C23.550.210.050.750/C537650|C23.550.210.182.500/C537650 C10.597.606.360.180|C16.131.077.262|C16.131.260.190|C16.320.180.190|C23.550.210.050.750|C23.550.210.182.500 Duplication 5q|Trisomy 5q Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (process) Chromosome 5, uniparental disomy MESH:C537762 MESH:D003410|MESH:D014314|MESH:D024182 C10.597.606.360.180/C537762|C16.131.077.262/C537762|C16.131.260.190/C537762|C16.320.180.190/C537762|C23.550.210.050.750/C537762|C23.550.210.182.500/C537762|C23.550.210.645.890/C537762 C10.597.606.360.180|C16.131.077.262|C16.131.260.190|C16.320.180.190|C23.550.210.050.750|C23.550.210.182.500|C23.550.210.645.890 Mosaic trisomy of chromosome 5|Uniparental disomy of 5 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (process) Chromosome 6, deletion 6q13 q15 MESH:C537764 MESH:D002872 C23.550.210.050.500.500/C537764 C23.550.210.050.500.500 Deletion 6q13 q15|Monosomy 6q13 q15 Pathology (process) Chromosome 6, monosomy 6p23 MESH:C537765 MESH:D002872 C23.550.210.050.500.500/C537765 C23.550.210.050.500.500 Deletion 6p23|Monosomy 6p23 Pathology (process) Chromosome 6, monosomy 6q MESH:C537807 MESH:D002872 C23.550.210.050.500.500/C537807 C23.550.210.050.500.500 Deletion 6q|Monosomy 6q Pathology (process) Chromosome 6, monosomy 6q1 MESH:C537808 MESH:D002872 C23.550.210.050.500.500/C537808 C23.550.210.050.500.500 Deletion 6q1|Monosomy 6q1 Pathology (process) Chromosome 6, monosomy 6q2 MESH:C537809 MESH:D002872 C23.550.210.050.500.500/C537809 C23.550.210.050.500.500 Deletion 6q2|Monosomy 6q2 Pathology (process) Chromosome 6pter-P24 Deletion Syndrome MESH:C567239 DO:DOID:0060422 MESH:D002872|MESH:D005124|MESH:D006330|MESH:D006972|MESH:D034381 C05.116.099.370.231.480/C567239|C05.660.207.231.480/C567239|C09.218.458.341/C567239|C10.597.751.418.341/C567239|C11.250/C567239|C14.240.400/C567239|C14.280.400/C567239|C16.131.240.400/C567239|C16.131.384/C567239|C16.131.621.207.231.480/C567239|C23.550.210.050.500.500/C567239|C23.888.592.763.393.341/C567239 C05.116.099.370.231.480|C05.660.207.231.480|C09.218.458.341|C10.597.751.418.341|C11.250|C14.240.400|C14.280.400|C16.131.240.400|C16.131.384|C16.131.621.207.231.480|C23.550.210.050.500.500|C23.888.592.763.393.341 Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 6 ring syndrome MESH:C537763 MESH:D012303|MESH:D025063 C16.131.260/C537763|C16.320.180/C537763|C23.550.210.760/C537763 C16.131.260|C16.320.180|C23.550.210.760 Ring 6, Chromosome|Ring chromosome 6 syndrome Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 6, trisomy 6p MESH:C537811 MESH:D014314 C23.550.210.050.750/C537811|C23.550.210.182.500/C537811 C23.550.210.050.750|C23.550.210.182.500 Duplication 6p|Trisomy 6p Pathology (process) Chromosome 6, trisomy 6q MESH:C537812 MESH:D014314 C23.550.210.050.750/C537812|C23.550.210.182.500/C537812 C23.550.210.050.750|C23.550.210.182.500 Duplication 6q|Trisomy 6q Pathology (process) Chromosome 7, monosomy MESH:C537814 MESH:D002872 C23.550.210.050.500.500/C537814 C23.550.210.050.500.500 Monosomy 7 Pathology (process) Chromosome 7, monosomy 7q2 MESH:C537815 MESH:D002872 C23.550.210.050.500.500/C537815 C23.550.210.050.500.500 Deletion 7q2|Monosomy 7q2 Pathology (process) Chromosome 7, monosomy 7q21 MESH:C537816 MESH:D002872 C23.550.210.050.500.500/C537816 C23.550.210.050.500.500 Deletion 7q21|Monosomy 7q21 Pathology (process) Chromosome 7, monosomy 7q3 MESH:C537817 MESH:D002872 C23.550.210.050.500.500/C537817 C23.550.210.050.500.500 Deletion 7q3|Monosomy 7q3 Pathology (process) CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB OMIM:613729 MESH:D002872|MESH:D004827|MESH:D007859|MESH:D008607 C10.228.140.490/613729|C10.597.606.150.550/613729|C10.597.606.360/613729|C23.550.210.050.500.500/613729|C23.888.592.604.150.550/613729|C23.888.592.604.646/613729|F03.625.539/613729|F03.625.562/613729 C10.228.140.490|C10.597.606.150.550|C10.597.606.360|C23.550.210.050.500.500|C23.888.592.604.150.550|C23.888.592.604.646|F03.625.539|F03.625.562 DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 7 ring syndrome MESH:C537813 MESH:D012303|MESH:D025063 C16.131.260/C537813|C16.320.180/C537813|C23.550.210.760/C537813 C16.131.260|C16.320.180|C23.550.210.760 Ring chromosome 7|Ring chromosome 7 syndrome Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromosome 7, trisomy 7p MESH:C537819 MESH:D014314 C23.550.210.050.750/C537819|C23.550.210.182.500/C537819 C23.550.210.050.750|C23.550.210.182.500 Duplication 7p|Trisomy 7p Pathology (process) Chromosome 7, trisomy 7p13 p12 2 MESH:C537820 MESH:D014314 C23.550.210.050.750/C537820|C23.550.210.182.500/C537820 C23.550.210.050.750|C23.550.210.182.500 Duplication 7p13 p12.2|Trisomy 7p13 p12 2 Pathology (process) Chromosome 7, trisomy 7q MESH:C537821 MESH:D014314 C23.550.210.050.750/C537821|C23.550.210.182.500/C537821 C23.550.210.050.750|C23.550.210.182.500 Duplication 7q|Trisomy 7q Pathology (process) Chromosome 7, trisomy mosaic MESH:C537822 MESH:D014314|MESH:D024182 C23.550.210.050.750/C537822|C23.550.210.182.500/C537822|C23.550.210.645.890/C537822 C23.550.210.050.750|C23.550.210.182.500|C23.550.210.645.890 Trisomy 7 mosaicism|Uniparental disomy of 7 Pathology (process) Chromosome 8 deletion MESH:C537823 MESH:D009006 C23.550.210.050.500/C537823 C23.550.210.050.500 Deletions of chromosome 8 Pathology (process) Chromosome 8, monosomy 8p MESH:C537825 MESH:D002872 C23.550.210.050.500.500/C537825 C23.550.210.050.500.500 Deletion 8p|Monosomy 8p Pathology (process) Chromosome 8, monosomy 8p23 1 MESH:C537827 MESH:D002872 C23.550.210.050.500.500/C537827 C23.550.210.050.500.500 Deletion 8p23 1|Monosomy 8p23 1 Pathology (process) Chromosome 8, monosomy 8q MESH:C537828 MESH:D002872 C23.550.210.050.500.500/C537828 C23.550.210.050.500.500 Deletion 8q|Monosomy 8q Pathology (process) Chromosome 8, mosaic trisomy MESH:C537940 MESH:D014314|MESH:D024182 C23.550.210.050.750/C537940|C23.550.210.182.500/C537940|C23.550.210.645.890/C537940 C23.550.210.050.750|C23.550.210.182.500|C23.550.210.645.890 Trisomy 8 Mosaicism|Uniparental disomy of 8 Pathology (process) Chromosome 8, partial trisomy MESH:C537941 MESH:D014314 C23.550.210.050.750/C537941|C23.550.210.182.500/C537941 C23.550.210.050.750|C23.550.210.182.500 Partial trisomy 8|Trisomy Partial 8 Pathology (process) Chromosome 8p deletion syndrome (partial) MESH:C537826 MESH:D002872 C23.550.210.050.500.500/C537826 C23.550.210.050.500.500 8p deletion syndrome (partial)|8p- syndrome (partial)|Chromosome 8, monosomy 8p2|Chromosome 8, monosomy 8p21-pter|Chromosome 8, partial deletion (short arm)|Chromosome 8, partial monosomy 8p2 Pathology (process) CHROMOSOME 8q21.11 DELETION SYNDROME OMIM:614230 DO:DOID:0060425 MESH:C537823|MESH:D002872|MESH:D008607|MESH:D019465 C05.660.207/614230|C10.597.606.360/614230|C16.131.621.207/614230|C23.550.210.050.500.500/614230|C23.550.210.050.500/C537823/614230|C23.888.592.604.646/614230|F03.625.539/614230 C05.660.207|C10.597.606.360|C16.131.621.207|C23.550.210.050.500.500|C23.550.210.050.500/C537823|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome 8 ring MESH:C537824 MESH:D012303 C23.550.210.760/C537824 C23.550.210.760 Ring chromosome 8 Pathology (process) Chromosome 8, trisomy MESH:C537942 MESH:D014314 C23.550.210.050.750/C537942|C23.550.210.182.500/C537942 C23.550.210.050.750|C23.550.210.182.500 Chromosome 8 duplication|Trisomy 8 Pathology (process) Chromosome 8, trisomy 8p MESH:C538019 MESH:D014314 C23.550.210.050.750/C538019|C23.550.210.182.500/C538019 C23.550.210.050.750|C23.550.210.182.500 Duplication 8p|Trisomy 8p Pathology (process) Chromosome 8, trisomy 8q MESH:C538020 MESH:D014314 C23.550.210.050.750/C538020|C23.550.210.182.500/C538020 C23.550.210.050.750|C23.550.210.182.500 Duplication 8q|Trisomy 8q Pathology (process) Chromosome 9, duplication 9q21 MESH:C538023 MESH:D000782 C23.550.210.050/C538023 C23.550.210.050 Disomy 9q21|Duplication 9q21 Pathology (process) Chromosome 9 inversion or duplication MESH:C538021 MESH:D014178 C23.550.210.870/C538021 C23.550.210.870 Trisomy 9 translocation Pathology (process) Chromosome 9, partial monosomy 9p MESH:C538025 MESH:D002872 C23.550.210.050.500.500/C538025 C23.550.210.050.500.500 9p Partial Monosomy|9p- syndrome, partial|Deletion 9p syndrome, partial|Distal Monosomy 9p|Partial deletion of short arm of chromosome 9 Pathology (process) Chromosome 9, partial trisomy 9p MESH:C538026 MESH:D014314 C23.550.210.050.750/C538026|C23.550.210.182.500/C538026 C23.550.210.050.750|C23.550.210.182.500 Duplication 9p partial|Trisomy 9p partial Pathology (process) Chromosome 9p Deletion Syndrome MESH:C538024 DO:DOID:0060732 MESH:D002872 C23.550.210.050.500.500/C538024 C23.550.210.050.500.500 Chromosome 9, monosomy 9p|Deletion 9p|Deletion 9p Syndrome|Monosomy 9p|Monosomy 9p Syndrome Pathology (process) Chromosome 9 Ring MESH:C538022 MESH:D012303 C23.550.210.760/C538022 C23.550.210.760 Ring 9, Chromosome Pathology (process) Chromosome 9, tetrasomy 9p MESH:C538027 MESH:D000782 C23.550.210.050/C538027 C23.550.210.050 Chromosome 9, tetrasomy 9p mosaicism|Mosaic tetrasomy 9p|Tetrasomy 9p|Tetrasomy, short arm of chromosome 9 Pathology (process) Chromosome 9, trisomy MESH:C538028 MESH:D014314 C23.550.210.050.750/C538028|C23.550.210.182.500/C538028 C23.550.210.050.750|C23.550.210.182.500 Duplication 9|Trisomy 9 Pathology (process) Chromosome 9, trisomy 9p MESH:C538029 MESH:D014314 C23.550.210.050.750/C538029|C23.550.210.182.500/C538029 C23.550.210.050.750|C23.550.210.182.500 Pathology (process) Chromosome 9, trisomy 9q MESH:C538030 MESH:D014314 C23.550.210.050.750/C538030|C23.550.210.182.500/C538030 C23.550.210.050.750|C23.550.210.182.500 Duplication 9q|Trisomy 9q Pathology (process) Chromosome 9, trisomy 9q32 MESH:C535453 MESH:D014314 C23.550.210.050.750/C535453|C23.550.210.182.500/C535453 C23.550.210.050.750|C23.550.210.182.500 Duplication 9q32|Trisomy 9q32 Pathology (process) Chromosome 9, trisomy mosaic MESH:C535454 MESH:D014314|MESH:D024182 C23.550.210.050.750/C535454|C23.550.210.182.500/C535454|C23.550.210.645.890/C535454 C23.550.210.050.750|C23.550.210.182.500|C23.550.210.645.890 Trisomy 9 mosaic|Trisomy 9 mosaicism|Uniparental disomy of 9 Pathology (process) Chromosome Aberrations MESH:D002869 Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. MESH:D010335 C23.550.210 C23.550 Aberration, Chromosomal|Aberration, Chromosome|Aberration, Cytogenetic|Aberrations, Chromosomal|Aberrations, Chromosome|Aberrations, Cytogenetic|Abnormalities, Autosome|Abnormalities, Chromosomal|Abnormalities, Chromosome|Abnormalities, Cytogenetic|Abnormality, Autosome|Abnormality, Chromosomal|Abnormality, Chromosome|Abnormality, Cytogenetic|Autosome Abnormalities|Autosome Abnormality|Chromosomal Aberration|Chromosomal Aberrations|Chromosomal Abnormalities|Chromosomal Abnormality|Chromosome Aberration|Chromosome Abnormalities|Chromosome Abnormality|Cytogenetic Aberration|Cytogenetic Aberrations|Cytogenetic Abnormalities|Cytogenetic Abnormality Pathology (process) Chromosome Breakage MESH:D019457 A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION. MESH:D002869 C23.550.210.170 C23.550.210 Breakage, Chromosomal|Breakage, Chromosome|Breakages, Chromosomal|Breakages, Chromosome|Break, Chromosomal|Break, Chromosome|Breaks, Chromosomal|Breaks, Chromosome|Chromosomal Break|Chromosomal Breakage|Chromosomal Breakages|Chromosomal Breaks|Chromosome Break|Chromosome Breakages|Chromosome Breaks Pathology (process) Chromosome Deletion MESH:D002872 Actual loss of portion of a chromosome. MESH:D009006 C23.550.210.050.500.500 C23.550.210.050.500 Deletion, Chromosome|Deletions, Chromosome|Monosomies, Partial|Monosomy, Partial|Partial Monosomies|Partial Monosomy Pathology (process) Chromosome Disorders MESH:D025063 Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) MESH:D000013|MESH:D030342 C16.131.260|C16.320.180 C16.131|C16.320 Autosomal Chromosome Disorder|Autosomal Chromosome Disorders|Chromosomal Disorder|Chromosomal Disorders|Chromosome Abnormality Disorder|Chromosome Abnormality Disorders|Chromosome Disorder|Chromosome Disorder, Autosomal|Chromosome Disorders, Autosomal|Disorder, Chromosomal|Disorder, Chromosome|Disorder, Chromosome Abnormality|Disorders, Chromosomal|Disorders, Chromosome Congenital abnormality|Genetic disease (inborn) Chromosome Duplication MESH:D058674 An aberration in which an extra chromosome or a chromosomal segment is made. MESH:D002869 C23.550.210.182 C23.550.210 Chromosomal Duplication|Chromosomal Duplications|Chromosome Duplications|Duplication, Chromosomal|Duplication, Chromosome|Duplications, Chromosomal|Duplications, Chromosome Pathology (process) Chromosome Fragility MESH:D002873 Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations. MESH:D043171 C23.550.210.110.180|C23.550.362.180.180 C23.550.210.110|C23.550.362.180 Chromosomal Fragility|Fragility, Chromosomal|Fragility, Chromosome Pathology (process) Chromosome Inversion MESH:D007446 An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome. MESH:D002869 C23.550.210.190 C23.550.210 Chromosomal Inversion|Chromosomal Inversions|Chromosome Inversions|Inversion, Chromosomal|Inversion, Chromosome|Inversions, Chromosomal|Inversions, Chromosome Pathology (process) Chromosomes 1 and 2, monosomy 2q duplication 1p MESH:C535455 MESH:D014178 C23.550.210.870/C535455 C23.550.210.870 Deletion 2q duplication 1p|Monosomy 2q duplication 1p Pathology (process) Chromosome Xp11.23-P11.22 Duplication Syndrome MESH:C567585 DO:DOID:0060461 MESH:D002658|MESH:D025063|MESH:D040181|MESH:D058674 C16.131.260/C567585|C16.320.180/C567585|C16.320.322/C567585|C23.550.210.182/C567585|F03.625.421/C567585 C16.131.260|C16.320.180|C16.320.322|C23.550.210.182|F03.625.421 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Pathology (process) Chromosome Xp11.3 Deletion Syndrome MESH:C564481 OMIM:300578 MESH:D012174|MESH:D038901 C10.597.606.360.455/C564481|C11.270.684/C564481|C11.768.585.658.500/C564481|C16.320.290.684/C564481|C16.320.322.500/C564481|C16.320.400.525/C564481 C10.597.606.360.455|C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.322.500|C16.320.400.525 Mental Retardation, X-Linked, With Retinitis Pigmentosa Eye disease|Genetic disease (inborn)|Nervous system disease Chromosome Xq28 Duplication Syndrome MESH:C567580 MESH:D008607|MESH:D019066|MESH:D019465|MESH:D025064|MESH:D040181|MESH:D058674 C05.660.207/C567580|C10.597.606.360/C567580|C16.131.260.830/C567580|C16.131.621.207/C567580|C16.320.180.830/C567580|C16.320.322/C567580|C23.550.210.182/C567580|C23.550.291.812/C567580|C23.888.592.604.646/C567580|F03.625.539/C567580 C05.660.207|C10.597.606.360|C16.131.260.830|C16.131.621.207|C16.320.180.830|C16.320.322|C23.550.210.182|C23.550.291.812|C23.888.592.604.646|F03.625.539 Gdi1 Duplication Syndrome Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Chromosome Xq duplication syndrome MESH:C536732 MESH:D012729|MESH:D014314|MESH:D025064 C16.131.260.830/C536732|C16.320.180.830/C536732|C23.550.210.050.750/C536732|C23.550.210.182.500/C536732|C23.550.210.815/C536732 C16.131.260.830|C16.320.180.830|C23.550.210.050.750|C23.550.210.182.500|C23.550.210.815 Chromosome Xq trisomy|Duplication Xq|Dup(Xq) syndrome|Trisomy Xq|X chromosome, trisomy Xq Congenital abnormality|Genetic disease (inborn)|Pathology (process) Chromothripsis MESH:D000072837 Massive number of chromosomal rearrangements and shattering that occurs in cancer cells. The breakpoints are located within one chromosome or chromosome arm. MESH:D002869 C23.550.210.310 C23.550.210 Chromosome Shattering|Chromosome Shatterings|Chromothripses|Shattering, Chromosome Pathology (process) CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA OMIM:616201 DO:DOID:0060339 MESH:D001145|MESH:D007418 C06.405.469.531.492.500/616201|C14.280.067/616201|C23.550.073/616201 C06.405.469.531.492.500|C14.280.067|C23.550.073 CAID Cardiovascular disease|Digestive system disease|Pathology (process) chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature MESH:C000633744 MESH:D007153 C20.673/C000633744 C20.673 POMP-related autoinflammation|POMP-related autoinflammation and immune dysregulation disease|PRAID Immune system disease Chronic Disease MESH:D002908 Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care (Dictionary of Health Services Management, 2d ed). For epidemiological studies chronic disease often includes HEART DISEASES; STROKE; CANCER; and diabetes (DIABETES MELLITUS, TYPE 2). MESH:D020969 C23.550.291.500 C23.550.291 Chronically Ill|Chronic Condition|Chronic Conditions|Chronic Diseases|Chronic Illness|Chronic Illnesses|Condition, Chronic|Disease, Chronic|Illness, Chronic Pathology (process) Chronic Exertional Compartment Syndrome MESH:D000083182 Compartment syndrome characterized by pain in muscle groups with elevated compartment pressures due most often exercise training in athletes. Most often encountered chronic exertional compartment syndrome is in the anterior or deep posterior compartments of the lower leg in athletes in training similar to POPLITEAL ARTERY ENTRAPMENT SYNDROME. MESH:D002908|MESH:D003161 C05.651.180.180|C14.907.303.180|C23.550.291.500.282 C05.651.180|C14.907.303|C23.550.291.500 Cardiovascular disease|Musculoskeletal disease|Pathology (process) Chronic Inducible Urticaria MESH:D000094482 DO:DOID:1554 Chronic urticaria with identified triggering factor which is either physical, e.g., vibratory urticaria, or non-physical, e.g., aquagenic urticaria. MESH:D000080223 C17.800.862.945.533.500|C20.543.480.904.533.500|C23.550.291.500.360.500 C17.800.862.945.533|C20.543.480.904.533|C23.550.291.500.360 Aquagenic Urticaria|Aquagenic Urticarias|Chronic Inducible Urticarias|CIndU|Inducible Urticaria, Chronic|Urticaria, Aquagenic|Urticaria, Vibratory|Vibratory Urticaria|Vibratory Urticarias Immune system disease|Pathology (process)|Skin disease Chronic Kidney Disease-Mineral and Bone Disorder MESH:D012080 DO:DOID:13068 Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders. MESH:D002908|MESH:D006962|MESH:D007674|MESH:D012279 C05.116.198.816.750|C12.050.351.968.419.795|C12.200.777.419.080|C12.950.419.795|C18.452.104.816.750|C18.452.174.845.750|C18.654.521.500.133.770.734.750|C19.642.355.480.500|C23.550.291.500.290 C05.116.198.816|C12.050.351.968.419|C12.200.777.419|C12.950.419|C18.452.104.816|C18.452.174.845|C18.654.521.500.133.770.734|C19.642.355.480|C23.550.291.500 Chronic Kidney Disease Mineral and Bone Disorder|CKD-MBD|Osteodystrophies, Renal|Osteodystrophy, Renal|Renal Osteodystrophies|Renal Osteodystrophy|Renal Rickets|Rickets, Renal Endocrine system disease|Metabolic disease|Musculoskeletal disease|Nutrition disorder|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Chronic Kidney Diseases of Uncertain Etiology MESH:D000092702 Chronic kidney diseases not associated with traditional RISK FACTORS, e.g., TYPE 2 DIABETES MELLITUS and HYPERTENSION, but rather with infectious diseases, exposure to environmental toxins, or other unknown factors. They are most prevalent in agricultural communities of DEVELOPING COUNTRIES. MESH:D000382|MESH:D051436 C12.050.351.968.419.780.750.250|C12.200.777.419.780.750.250|C12.950.419.780.750.250|C23.550.291.500.906.250|C24.080.183 C12.050.351.968.419.780.750|C12.200.777.419.780.750|C12.950.419.780.750|C23.550.291.500.906|C24.080 Chronic Interstitial Nephritis of Agricultural Communities|Chronic Kidney Disease of Nontraditional Etiology|Chronic Kidney Disease of Uncertain Etiology|Chronic Kidney Disease of Unknown Etiology|Chronic Kidney Disease of Unknown or Uncertain Etiology|CINAC|CINAC Chronic Interstitial Nephritis in Agricultural Communities|CKD of Uncertain Etiology|CKDu Chronic Kidney Disease of Uncertain Etiology|CKDu Chronic Kidney Disease of Unknown Etiology|CKDu Chronic Kidney Diseases of Uncertain Etiology|KDUCAL|Kidney Disease of Unknown Cause in Agricultural Laborers|Mesoamerican Nephropathies|Mesoamerican Nephropathy|Nephropathy, Mesoamerican|Uncertain Etiology CKD Occupational disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Chronic Limb-Threatening Ischemia MESH:D000089802 A severe form of peripheral artery disease in which a hypoperfusion of the BLOOD through an organ or tissue is caused by occlusion of peripheral arterial vessels. It is associated with the presence of chronic ischemic rest pain, ulceration or GANGRENE. MESH:D002908|MESH:D007511|MESH:D058729 C14.907.137.126.307.500.500|C14.907.617.671.500|C23.550.291.500.298|C23.550.513.178 C14.907.137.126.307.500|C14.907.617.671|C23.550.291.500|C23.550.513 Chronic Limb Threatening Ischemia|Critical Limb Ischemia|Ischemia, Chronic Limb-Threatening|Ischemia, Critical Limb|Limb Ischemia, Critical|Limb-Threatening Ischemia, Chronic Cardiovascular disease|Pathology (process) Chronic Motor Tics MESH:C563241 MESH:D005879 C10.228.140.079.898/C563241|C10.228.662.825.800/C563241|C10.574.500.850/C563241|C16.320.400.820/C563241|F03.625.992.850/C563241 C10.228.140.079.898|C10.228.662.825.800|C10.574.500.850|C16.320.400.820|F03.625.992.850 Genetic disease (inborn)|Mental disorder|Nervous system disease Chronic Pain MESH:D059350 Aching sensation that persists for more than a few months. It may or may not be associated with trauma or disease, and may persist after the initial injury has healed. Its localization, character, and timing are more vague than with acute pain. MESH:D010146 C23.888.592.612.274 C23.888.592.612 Chronic Pains|Chronic Pains, Widespread|Chronic Pain, Widespread|Pain, Chronic|Pains, Chronic|Pains, Widespread Chronic|Pain, Widespread Chronic|Widespread Chronic Pain|Widespread Chronic Pains Signs and symptoms Chronic Periodontitis MESH:D055113 Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people. MESH:D002908|MESH:D010518 C07.465.714.533.324|C23.550.291.500.313 C07.465.714.533|C23.550.291.500 Adult Periodontitides|Adult Periodontitis|Chronic Periodontitides|Periodontitides, Adult|Periodontitides, Chronic|Periodontitis, Adult|Periodontitis, Chronic Mouth disease|Pathology (process) Chronic recurrent multifocal osteomyelitis MESH:C535456 DO:DOID:0060645|OMIM:259680 MESH:D010019 C01.160.495/C535456|C05.116.165.495/C535456 C01.160.495|C05.116.165.495 Chronic multifocal osteomyelitis|CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 3|CMO|CRMO|CRMO3|Multifocal osteomyelitis, chronic|Osteomyelitis, Chronic Multifocal Musculoskeletal disease CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS OMIM:612852 MESH:C535456|MESH:D010522|MESH:D012871 C01.160.495/C535456/612852|C01.160.595/612852|C05.116.165.495/C535456/612852|C05.116.165.595/612852|C17.800/612852 C01.160.495/C535456|C01.160.595|C05.116.165.495/C535456|C05.116.165.595|C17.800 CRMO2|DIRA|INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY|OMPP|OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS Musculoskeletal disease|Skin disease Chronic Traumatic Encephalopathy MESH:D000070627 Degenerative brain disease linked to repetitive brain trauma. Progressive symptoms may include MEMORY LOSS; AGGRESSION; or DEPRESSION. MESH:D000070642|MESH:D019636|MESH:D020208 C10.228.140.199.444.500|C10.228.140.199.500.500|C10.574.250|C10.900.300.087.235.500|C10.900.300.087.250.500|C23.550.291.500.063.500.500|C26.915.300.200.194.500|C26.915.300.200.200.500 C10.228.140.199.444|C10.228.140.199.500|C10.574|C10.900.300.087.235|C10.900.300.087.250|C23.550.291.500.063.500|C26.915.300.200.194|C26.915.300.200.200 Chronic Encephalopathies, Post-Concussive|Chronic Encephalopathy, Post Concussive|Chronic Encephalopathy, Post-Concussive|Chronic Post-Concussive Encephalopathies|Chronic Post Concussive Encephalopathy|Chronic Post-Concussive Encephalopathy|Chronic Post-Traumatic Encephalopathies|Chronic Post Traumatic Encephalopathy|Chronic Post-Traumatic Encephalopathy|Encephalopathies, Post-Concussive|Encephalopathies, Post-Traumatic|Encephalopathy, Post Concussive|Encephalopathy, Post-Concussive|Encephalopathy, Post Traumatic|Encephalopathy, Post-Traumatic|Encephalopathy, Post-Traumatic, Chronic|Post-Concussive Chronic Encephalopathies|Post-Concussive Chronic Encephalopathy|Post-Concussive Encephalopathies|Post Concussive Encephalopathy|Post-Concussive Encephalopathy|Post-Traumatic Encephalopathies|Post Traumatic Encephalopathy|Post-Traumatic Encephalopathy|Traumatic Encephalopathy, Chronic Nervous system disease|Pathology (process)|Wounds and injuries Chronic Urticaria MESH:D000080223 DO:DOID:0080747 Wheals (urticaria) and/or angioedema presented with daily symptoms lasting for more than 6 weeks. It may be classified into chronic spontaneous and chronic inducible urticaria depending on whether a specific trigger can be linked to the development of vascular reaction. MESH:D002908|MESH:D014581 C17.800.862.945.533|C20.543.480.904.533|C23.550.291.500.360 C17.800.862.945|C20.543.480.904|C23.550.291.500 Autoimmune Urticaria|Autoimmune Urticaria, Chronic|Autoimmune Urticarias|Chronic Autoimmune Urticaria|Chronic Autoimmune Urticarias|Chronic Idiopathic Urticaria|Chronic Idiopathic Urticarias|Chronic Spontaneous Urticaria|Chronic Spontaneous Urticarias|Chronic Urticaria, Idiopathic|Chronic Urticarias|Idiopathic Chronic Urticaria|Idiopathic Chronic Urticarias|Idiopathic Urticaria, Chronic|Spontaneous Urticaria, Chronic|Urticaria, Autoimmune|Urticaria, Chronic|Urticaria, Chronic Autoimmune|Urticaria, Chronic Idiopathic|Urticaria, Chronic Spontaneous|Urticaria, Idiopathic Chronic Immune system disease|Pathology (process)|Skin disease Chronobiology Disorders MESH:D021081 Disruptions of the rhythmic cycle of bodily functions or activities. MESH:D009422 C10.281 C10 Biological Clock Disturbance|Biological Clock Disturbances|Chronobiology Disorder|Circadian Dysregulation|Circadian Rhythm Disorder|Circadian Rhythm Disorders|Disturbance, Biological Clock|Disturbances, Biological Clock|Dysregulation, Circadian|Inversion of Circadian Rhythm, Psychogenic|Psychogenic Inversion of Circadian Rhythm Nervous system disease Chronophobia MESH:C000719197 MESH:D010698 F03.080.725/C000719197 F03.080.725 Chronomentrophobia|Fear of clocks|Fear of time|Phobia, clocks|Phobia, time Mental disorder Chudley-Mccullough syndrome MESH:C535459 OMIM:604213 MESH:D006319|MESH:D016080|MESH:D061085 C04.182.044/C535459|C04.588.614.250.387.100/C535459|C09.218.458.341.887/C535459|C10.500.034/C535459|C10.500.142.100/C535459|C10.551.240.375.100/C535459|C10.597.751.418.341.887/C535459|C16.131.666.034/C535459|C16.131.666.142.100/C535459|C23.300.008/C535459|C23.888.592.763.393.341.887/C535459 C04.182.044|C04.588.614.250.387.100|C09.218.458.341.887|C10.500.034|C10.500.142.100|C10.551.240.375.100|C10.597.751.418.341.887|C16.131.666.034|C16.131.666.142.100|C23.300.008|C23.888.592.763.393.341.887 CMCS|DEAFNESS, AUTOSOMAL RECESSIVE 82, FORMERLY|Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction|Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|DFNB82, FORMERLY Cancer|Congenital abnormality|Ear-nose-throat disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Chudley-Rozdilsky syndrome MESH:C535458 MESH:D007006|MESH:D008607|MESH:D020512 C05.651.575.300/C535458|C10.597.606.360/C535458|C10.668.491.550.300/C535458|C19.391.482/C535458|C23.888.592.604.646/C535458|F03.625.539/C535458 C05.651.575.300|C10.597.606.360|C10.668.491.550.300|C19.391.482|C23.888.592.604.646|F03.625.539 Chudley Rozdilsky syndrome|Chudley syndrome Endocrine system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Churg-Strauss Syndrome MESH:D015267 DO:DOID:3049 Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA. MESH:D006099|MESH:D056648 C14.907.940.897.249.249|C15.604.515.292.015|C17.800.862.105.500|C20.111.193.500 C14.907.940.897.249|C15.604.515.292|C17.800.862.105|C20.111.193 Allergic Angiitides|Allergic Angiitides, Granulomatous|Allergic Angiitis|Allergic Angiitis and Granulomatosis|Allergic Angiitis, Granulomatous|Allergic Granulomatoses|Allergic Granulomatosis|Allergic Granulomatous and Angiitis|Allergic Granulomatous Angiitides|Allergic Granulomatous Angiitis|Angiitides, Allergic|Angiitides, Allergic Granulomatous|Angiitides, Granulomatous Allergic|Angiitis, Allergic|Angiitis, Allergic Granulomatous|Angiitis, Granulomatous Allergic|Churg Strauss Syndrome|Churg-Strauss Vasculitis|Eosinophilic Granulomatous Vasculitides|Eosinophilic Granulomatous Vasculitis|Granulomatoses, Allergic|Granulomatosis, Allergic|Granulomatous Allergic Angiitides|Granulomatous Allergic Angiitis|Granulomatous Angiitides, Allergic|Granulomatous Angiitis, Allergic|Granulomatous Vasculitides, Eosinophilic|Granulomatous Vasculitis, Eosinophilic|Syndrome, Churg-Strauss|Vasculitides, Eosinophilic Granulomatous|Vasculitis, Churg Strauss|Vasculitis, Churg-Strauss|Vasculitis, Eosinophilic Granulomatous Cardiovascular disease|Immune system disease|Lymphatic disease|Skin disease Chylomicronemia, Familial, due to Circulating Inhibitor of Lipoprotein Lipase MESH:C566126 MESH:D006951 C18.452.584.500.500.644/C566126 C18.452.584.500.500.644 Hyperlipoproteinemia, Type IC Metabolic disease Chylomicron retention disease MESH:C535460 DO:DOID:0060357|OMIM:246700 MESH:D006995|MESH:D008286 C06.405.469.637/C535460|C16.320.565.398.500.440/C535460|C18.452.584.500.875.440/C535460|C18.452.584.563.500.440/C535460|C18.452.603/C535460|C18.452.648.398.500.440/C535460 C06.405.469.637|C16.320.565.398.500.440|C18.452.584.500.875.440|C18.452.584.563.500.440|C18.452.603|C18.452.648.398.500.440 ANDD|Anderson Disease|Anderson Syndrome|CMRD|Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells|Lipid transport defect of intestine Digestive system disease|Genetic disease (inborn)|Metabolic disease Chylothorax MESH:D002916 The presence of chyle in the thoracic cavity. (Dorland, 27th ed) MESH:D010995 C08.528.142 C08.528 Respiratory tract disease Chylothorax, congenital MESH:C535461 OMIM:603523 MESH:D002916 C08.528.142/C535461 C08.528.142 Hydrothorax, Congenital Respiratory tract disease Chylous Ascites MESH:D002915 Presence of milky lymph (CHYLE) in the PERITONEAL CAVITY, with or without infection. MESH:D010532 C06.844.200 C06.844 Ascites, Chylous|Chyloperitoneum|Chylous Peritonitis|Peritonitis, Chylous Digestive system disease Cicatrix MESH:D002921 The fibrous tissue that replaces normal tissue during the process of WOUND HEALING. MESH:D005355 C23.550.355.274 C23.550.355 Cicatrization|Scar|Scarring|Scars Pathology (process) Cicatrix, Hypertrophic MESH:D017439 An elevated scar, resembling a KELOID, but which does not spread into surrounding tissues. It is formed by enlargement and overgrowth of cicatricial tissue and regresses spontaneously. MESH:D002921 C23.550.355.274.505 C23.550.355.274 Cicatrices, Hypertrophic|Hypertrophic Cicatrices|Hypertrophic Cicatrix|Hypertrophic Scar|Hypertrophic Scars|Scar, Hypertrophic|Scars, Hypertrophic Pathology (process) Ciguatera Poisoning MESH:D036841 Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances. MESH:D005517 C25.723.415.246 C25.723.415 Ciguatera|Ciguatera Fish Poisoning|Ciguatera Fish Poisonings|Ciguatera Poisonings|Poisoning, Ciguatera|Poisoning, Ciguatera Fish|Poisonings, Ciguatera|Poisonings, Ciguatera Fish Ciliary Discoordination Due To Random Ciliary Orientation MESH:C562757 MESH:D002925 C08.200/C562757|C09.150/C562757|C16.131.077.245.500/C562757|C16.320.184.500/C562757 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 Rutland Ciliary Disorientation Syndrome Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliary Dyskinesia, Primary, 10 MESH:C567287 OMIM:612518 MESH:D002925 C08.200/C567287|C09.150/C567287|C16.131.077.245.500/C567287|C16.320.184.500/C567287 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD10|CILIARY DYSKINESIA, PRIMARY, 10, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliary Dyskinesia, Primary, 11 MESH:C567212 OMIM:612649 MESH:D002925 C08.200/C567212|C09.150/C567212|C16.131.077.245.500/C567212|C16.320.184.500/C567212 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD11|CILIARY DYSKINESIA, PRIMARY, 11, WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliary Dyskinesia, Primary, 12 MESH:C567211 OMIM:612650 MESH:D002925 C08.200/C567211|C09.150/C567211|C16.131.077.245.500/C567211|C16.320.184.500/C567211 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD12|CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliary Dyskinesia, Primary, 13 MESH:C567713 OMIM:613193 MESH:D002925 C08.200/C567713|C09.150/C567713|C16.131.077.245.500/C567713|C16.320.184.500/C567713 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD13|Ciliary Dyskinesia, Primary, 13, With Or Without Situs Inversus Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 14 OMIM:613807 DO:DOID:0110598 MESH:D002925 C08.200/613807|C09.150/613807|C16.131.077.245.500/613807|C16.320.184.500/613807 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD14|CILIARY DYSKINESIA, PRIMARY, 14, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 15 OMIM:613808 DO:DOID:0110623 MESH:D002925 C08.200/613808|C09.150/613808|C16.131.077.245.500/613808|C16.320.184.500/613808 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD15|CILIARY DYSKINESIA, PRIMARY, 15, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 16 OMIM:614017 DO:DOID:0110613 MESH:D002925 C08.200/614017|C09.150/614017|C16.131.077.245.500/614017|C16.320.184.500/614017 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD16|CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 17 OMIM:614679 DO:DOID:0110621 MESH:D002925 C08.200/614679|C09.150/614679|C16.131.077.245.500/614679|C16.320.184.500/614679 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD17|CILIARY DYSKINESIA, PRIMARY, 17, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 18 OMIM:614874 DO:DOID:0110604 MESH:D002925 C08.200/614874|C09.150/614874|C16.131.077.245.500/614874|C16.320.184.500/614874 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD18|CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 19 OMIM:614935 DO:DOID:0110608 MESH:D002925 C08.200/614935|C09.150/614935|C16.131.077.245.500/614935|C16.320.184.500/614935 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD19|CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 20 OMIM:615067 DO:DOID:0110625 MESH:D002925 C08.200/615067|C09.150/615067|C16.131.077.245.500/615067|C16.320.184.500/615067 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD20|CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 21 OMIM:615294 DO:DOID:0110596 MESH:D002925 C08.200/615294|C09.150/615294|C16.131.077.245.500/615294|C16.320.184.500/615294 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD21|CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 22 OMIM:615444 DO:DOID:0110597 MESH:D002925 C08.200/615444|C09.150/615444|C16.131.077.245.500/615444|C16.320.184.500/615444 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD22|CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 23 OMIM:615451 DO:DOID:0110609 MESH:D002925 C08.200/615451|C09.150/615451|C16.131.077.245.500/615451|C16.320.184.500/615451 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD23|CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 24 OMIM:615481 DO:DOID:0110628 MESH:D002925 C08.200/615481|C09.150/615481|C16.131.077.245.500/615481|C16.320.184.500/615481 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD24|CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 25 OMIM:615482 DO:DOID:0110615 MESH:D002925 C08.200/615482|C09.150/615482|C16.131.077.245.500/615482|C16.320.184.500/615482 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD25|CILIARY DYSKINESIA, PRIMARY, 25, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 26 OMIM:615500 DO:DOID:0110627 MESH:D002925 C08.200/615500|C09.150/615500|C16.131.077.245.500/615500|C16.320.184.500/615500 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD26|CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 27 OMIM:615504 DO:DOID:0110611 MESH:D002925 C08.200/615504|C09.150/615504|C16.131.077.245.500/615504|C16.320.184.500/615504 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD27|CILIARY DYSKINESIA, PRIMARY, 27, WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 28 OMIM:615505 DO:DOID:0110607 MESH:D002925 C08.200/615505|C09.150/615505|C16.131.077.245.500/615505|C16.320.184.500/615505 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD28|CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 29 OMIM:615872 DO:DOID:0110600 MESH:D002925 C08.200/615872|C09.150/615872|C16.131.077.245.500/615872|C16.320.184.500/615872 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD29|CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 30 OMIM:616037 DO:DOID:0110624 MESH:D002925 C08.200/616037|C09.150/616037|C16.131.077.245.500/616037|C16.320.184.500/616037 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD30|CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 32 OMIM:616481 DO:DOID:0110603 MESH:D002925 C08.200/616481|C09.150/616481|C16.131.077.245.500/616481|C16.320.184.500/616481 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD32|CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 33 OMIM:616726 DO:DOID:0110619 MESH:D002925 C08.200/616726|C09.150/616726|C16.131.077.245.500/616726|C16.320.184.500/616726 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD33|CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 34 OMIM:617091 DO:DOID:0110610 MESH:D002925 C08.200/617091|C09.150/617091|C16.131.077.245.500/617091|C16.320.184.500/617091 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD34|CILIARY DYSKINESIA, PRIMARY, 34, WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 35 OMIM:617092 DO:DOID:0110620 MESH:D002925 C08.200/617092|C09.150/617092|C16.131.077.245.500/617092|C16.320.184.500/617092 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD35|CILIARY DYSKINESIA, PRIMARY, 35, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED OMIM:300991 DO:DOID:0111850 MESH:D002925 C08.200/300991|C09.150/300991|C16.131.077.245.500/300991|C16.320.184.500/300991 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD36|CILIARY DYSKINESIA, PRIMARY, 36, WITH OR WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliary Dyskinesia, Primary, 5 MESH:C563886 OMIM:608647 MESH:D002925 C08.200/C563886|C09.150/C563886|C16.131.077.245.500/C563886|C16.320.184.500/C563886 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD5|Ciliary Dyskinesia, Primary, 5, with or without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 5, WITHOUT SITUS INVERSUS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliary Dyskinesia, Primary, 6 MESH:C567057 OMIM:610852 MESH:D002925 C08.200/C567057|C09.150/C567057|C16.131.077.245.500/C567057|C16.320.184.500/C567057 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 CILD6 Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliary Dyskinesia, Primary, 7 MESH:C567504 OMIM:611884 MESH:D007619 C08.127.384.500/C567504|C08.200.531/C567504|C08.695.501/C567504|C09.150.531/C567504|C14.240.400.280.500/C567504|C14.280.400.280.500/C567504|C16.131.077.245.500.531/C567504|C16.131.240.400.280.500/C567504|C16.131.740.501/C567504|C16.131.810.250.500/C567504|C16.320.184.500.531/C567504|C16.320.480/C567504 C08.127.384.500|C08.200.531|C08.695.501|C09.150.531|C14.240.400.280.500|C14.280.400.280.500|C16.131.077.245.500.531|C16.131.240.400.280.500|C16.131.740.501|C16.131.810.250.500|C16.320.184.500.531|C16.320.480 Cild7|Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliary Dyskinesia, Primary, 8 MESH:C567373 OMIM:612274 MESH:D007619 C08.127.384.500/C567373|C08.200.531/C567373|C08.695.501/C567373|C09.150.531/C567373|C14.240.400.280.500/C567373|C14.280.400.280.500/C567373|C16.131.077.245.500.531/C567373|C16.131.240.400.280.500/C567373|C16.131.740.501/C567373|C16.131.810.250.500/C567373|C16.320.184.500.531/C567373|C16.320.480/C567373 C08.127.384.500|C08.200.531|C08.695.501|C09.150.531|C14.240.400.280.500|C14.280.400.280.500|C16.131.077.245.500.531|C16.131.240.400.280.500|C16.131.740.501|C16.131.810.250.500|C16.320.184.500.531|C16.320.480 CILD8|Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliary Dyskinesia, Primary, 9 MESH:C567310 OMIM:612444 MESH:D007619 C08.127.384.500/C567310|C08.200.531/C567310|C08.695.501/C567310|C09.150.531/C567310|C14.240.400.280.500/C567310|C14.280.400.280.500/C567310|C16.131.077.245.500.531/C567310|C16.131.240.400.280.500/C567310|C16.131.740.501/C567310|C16.131.810.250.500/C567310|C16.320.184.500.531/C567310|C16.320.480/C567310 C08.127.384.500|C08.200.531|C08.695.501|C09.150.531|C14.240.400.280.500|C14.280.400.280.500|C16.131.077.245.500.531|C16.131.240.400.280.500|C16.131.740.501|C16.131.810.250.500|C16.320.184.500.531|C16.320.480 CILD9|Ciliary Dyskinesia, Primary, 9, With Or Without Situs Inversus Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliary Dyskinesia With Transposition Of Ciliary Microtubules MESH:C567137 MESH:D002925 C08.200/C567137|C09.150/C567137|C16.131.077.245.500/C567137|C16.320.184.500/C567137 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliary Motility Disorders MESH:D002925 DO:DOID:9562 Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms. MESH:D000072661|MESH:D010038|MESH:D012140 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 C08|C09|C16.131.077.245|C16.320.184 Ciliary Dyskinesia|Ciliary Dyskinesia, Primary|Ciliary Dyskinesias|Ciliary Motility Disorder|Disorder, Ciliary Motility|Dyskinesia, Ciliary|Dyskinesia, Primary Ciliary|Immotile Cilia Syndrome|Immotile Cilia Syndromes|Primary Ciliary Dyskinesia Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Ciliopathies MESH:D000072661 Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Primary features may include obesity, SKELETAL DYSPLASIA; POLYDACTYLY and malformations that primarily involve the liver, eye or kidneys. MESH:D000015|MESH:D030342 C16.131.077.245|C16.320.184 C16.131.077|C16.320 Ciliopathy Congenital abnormality|Genetic disease (inborn) Ciliophora Infections MESH:D016770 Infections with protozoa of the phylum CILIOPHORA. MESH:D011528 C01.610.752.200 C01.610.752 Ciliophora Infection|Infection, Ciliophora|Infections, Ciliophora Parasitic disease Circoviridae Infections MESH:D018173 Virus diseases caused by the CIRCOVIRIDAE. MESH:D004266 C01.925.256.200 C01.925.256 Circoviridae Infection|Circovirus Infection|Circovirus Infections|Infection, Circoviridae|Infection, Circovirus|Infections, Circoviridae|Infections, Circovirus Viral disease Circumvallate Placenta Syndrome MESH:C565847 MESH:D006470|MESH:D006831|MESH:D012131 C08.618.846/C565847|C12.050.703.610/C565847|C23.550.414/C565847 C08.618.846|C12.050.703.610|C23.550.414 Pathology (process)|Pregnancy complication|Respiratory tract disease Cirrhosis, Cryptogenic MESH:C562577 MESH:D008103 C06.552.630/C562577|C23.550.355.412/C562577 C06.552.630|C23.550.355.412 Digestive system disease|Pathology (process) Cirrhosis, Familial MESH:C566123 OMIM:215600 MESH:D008103|MESH:D030342 C06.552.630/C566123|C16.320/C566123|C23.550.355.412/C566123 C06.552.630|C16.320|C23.550.355.412 CIRRHOSIS, CRYPTOGENIC, INCLUDED|CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED|CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO, INCLUDED|COPPER-OVERLOAD CIRRHOSIS, INCLUDED|COPPER TOXICOSIS, IDIOPATHIC, INCLUDED|ENDEMIC TYROLEAN INFANTILE CIRRHOSIS, INCLUDED|ETIC, INCLUDED|ICC, INCLUDED|ICT, INCLUDED|INDIAN CHILDHOOD CIRRHOSIS, INCLUDED|SEN SYNDROME, INCLUDED Digestive system disease|Genetic disease (inborn)|Pathology (process) Cirrhosis, familial, with deposition of abnormal glycogen MESH:C537275 MESH:D006011 C16.320.565.202.449.540/C537275|C18.452.648.202.449.540/C537275 C16.320.565.202.449.540|C18.452.648.202.449.540 Genetic disease (inborn)|Metabolic disease Cirrhosis, Familial, with Pulmonary Hypertension MESH:C562580 MESH:D006976|MESH:D008103 C06.552.630/C562580|C08.381.423/C562580|C14.907.489.556/C562580|C23.550.355.412/C562580 C06.552.630|C08.381.423|C14.907.489.556|C23.550.355.412 Indian Childhood Cirrhosis Cardiovascular disease|Digestive system disease|Pathology (process)|Respiratory tract disease Citrullinemia MESH:D020159 DO:DOID:9273|OMIM:215700 A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49) MESH:D056806 C10.228.140.163.100.937.374|C16.320.565.100.940.374|C16.320.565.189.937.374|C18.452.132.100.937.374|C18.452.648.100.940.374|C18.452.648.189.937.374 C10.228.140.163.100.937|C16.320.565.100.940|C16.320.565.189.937|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937 Argininosuccinate Synthase Deficiency Disease|Argininosuccinate Synthetase Deficiencies|Argininosuccinate Synthetase Deficiency|Argininosuccinic Acid Synthase Deficiency Disease|Argininosuccinic Acid Synthetase Deficiency|Argininosuccinic Acid Synthetase Deficiency, Complete|Argininosuccinic Acid Synthetase Deficiency Disease|Argininosuccinic Acid Synthetase Deficiency Disease, Partial|ASS Deficiencies|ASS Deficiency|Citrullinemia 1|Citrullinemia, Classic|Citrullinemia, Classical|Citrullinemia, Late Onset|Citrullinemia, Late-Onset|Citrullinemia, Neonatal|Citrullinemias|Citrullinemias, Classic|Citrullinemia Type 1|Citrullinemia, Type I|Citrullinuria|Citrullinurias|Classical Citrullinemia|Classical Citrullinemias|Classic Citrullinemia|Classic Citrullinemias|Complete Argininosuccinic Acid Synthetase Deficiency Disease|CTLN1|Deficiencies, Argininosuccinate Synthetase|Deficiency, Argininosuccinate Synthetase|Deficiency, Argininosuccinic Acid Synthetase, Complete|Deficiency, Argininosuccinic Acid Synthetase, Partial|Deficiency, ASS|Deficiency Disease, Argininosuccinate Synthase|Deficiency Disease, Argininosuccinic Acid Synthase|Late-Onset Citrullinemia|Late-Onset Citrullinemias|Neonatal Citrullinemia|Neonatal Citrullinemias|Partial Argininosuccinic Acid Synthetase Deficiency Disease|Type I Citrullinemia|Type I Citrullinemias Genetic disease (inborn)|Metabolic disease|Nervous system disease Citrulline transport defect MESH:C536207 MESH:D056806 C10.228.140.163.100.937/C536207|C16.320.565.100.940/C536207|C16.320.565.189.937/C536207|C18.452.132.100.937/C536207|C18.452.648.100.940/C536207|C18.452.648.189.937/C536207 C10.228.140.163.100.937|C16.320.565.100.940|C16.320.565.189.937|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937 Genetic disease (inborn)|Metabolic disease|Nervous system disease Ciuffo Syndrome MESH:C566733 MESH:D006344|MESH:D011666 C14.240.400.560.375/C566733|C14.280.400.560.375/C566733|C14.280.484.716/C566733|C14.280.955.750/C566733|C16.131.240.400.560.375/C566733 C14.240.400.560.375|C14.280.400.560.375|C14.280.484.716|C14.280.955.750|C16.131.240.400.560.375 Pulmonic Stenosis, Atrial Septal Defect, and Unique Electrocardiographic Abnormalities Cardiovascular disease|Congenital abnormality CK SYNDROME OMIM:300831 DO:DOID:0111898 MESH:D008831|MESH:D013851|MESH:D038901|MESH:D054220 C05.660.207.620/300831|C10.500.507/300831|C10.500.507.400.500/300831|C10.597.606.360.455/300831|C16.131.621.207.620/300831|C16.131.666.507/300831|C16.131.666.507.400.500/300831|C16.320.322.500/300831|C16.320.400.525/300831|C23.888.144.828/300831 C05.660.207.620|C10.500.507|C10.500.507.400.500|C10.597.606.360.455|C16.131.621.207.620|C16.131.666.507|C16.131.666.507.400.500|C16.320.322.500|C16.320.400.525|C23.888.144.828 CKS|MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms CLAPO Syndrome MESH:C567763 MESH:D001165|MESH:D008206 C14.240.850.750/C567763|C14.907.150/C567763|C15.604/C567763|C16.131.240.850.750/C567763 C14.240.850.750|C14.907.150|C15.604|C16.131.240.850.750 Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial-Generalized Overgrowth|Clapo|Lopez-Gutierrez Syndrome Cardiovascular disease|Congenital abnormality|Lymphatic disease Clark-Baraitser syndrome MESH:C536208 DO:DOID:0080234 MESH:D006130|MESH:D006849|MESH:D009765|MESH:D019066|MESH:D038901 C10.228.140.602/C536208|C10.597.606.360.455/C536208|C16.320.322.500/C536208|C16.320.400.525/C536208|C18.654.726.750.500/C536208|C23.550.291.812/C536208|C23.550.393/C536208|C23.888.144.699.500/C536208 C10.228.140.602|C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C18.654.726.750.500|C23.550.291.812|C23.550.393|C23.888.144.699.500 Baraitser Syndrome Genetic disease (inborn)|Nervous system disease|Nutrition disorder|Pathology (process)|Signs and symptoms Classical Lissencephalies and Subcortical Band Heterotopias MESH:D054221 DO:DOID:0060402|DO:DOID:0060469|DO:DOID:0111169|OMIM:247200|OMIM:300067 Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.) MESH:D038901|MESH:D054081|MESH:D054082 C10.500.507.450.230|C10.500.507.450.499.230|C16.131.666.507.450.230|C16.131.666.507.450.499.230|C16.320.322.500.186 C10.500.507.450|C10.500.507.450.499|C16.131.666.507.450|C16.131.666.507.450.499|C16.320.322.500 1, Lissencephaly|1, Lissencephaly Type|1s, Lissencephaly|1s, Lissencephaly Type|Agyria Pachygyria Band Spectrum|Agyria-Pachygyria-Band Spectrum|Band Heterotopia, Lissencephaly-Subcortical|Chromosome 17p13.3 Deletion Syndrome|Classical Lissencephalies|Classical Lissencephaly|Classical Lissencephaly Syndrome|Classical Lissencephaly Syndromes|Classic Lissencephalies|Classic Lissencephaly|DC SYNDROME, INCLUDED|Double Cortex Syndrome|DOUBLE CORTEX SYNDROME, INCLUDED|Heterotopia, Lissencephaly-Subcortical Band|Heterotopias, Lissencephaly-Subcortical Band|Heterotopias, Subcortical Band|Heterotopias, Subcortical Laminar|Heterotopia, Subcortical Band|Heterotopia, Subcortical Laminar|Isolated Lissencephaly Sequence|Lissencephalies, Classic|Lissencephalies, Classical|Lissencephalies, Type 1|Lissencephalies, X-Linked|Lissencephaly 1|Lissencephaly 1s|LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED|Lissencephaly, Classic|Lissencephaly, Classical|Lissencephaly, Miller Dieker|Lissencephaly, Miller-Dieker|Lissencephaly Sequence, Isolated|Lissencephaly Subcortical Band Heterotopia|Lissencephaly-Subcortical Band Heterotopia|Lissencephaly-Subcortical Band Heterotopias|Lissencephaly Syndrome, Classical|Lissencephaly Syndrome, Miller Dieker|Lissencephaly Syndrome, Miller-Dieker|Lissencephaly Syndromes, Classical|Lissencephaly Type 1|Lissencephaly, Type 1|Lissencephaly Type 1s|Lissencephaly, X Linked|Lissencephaly, X-Linked|Lissencephaly, X-Linked, 1|LISX1|MDCR, INCLUDED|MDLS|MDS CHROMOSOME 17p13.3 DELETION SYNDROME, INCLUDED|Miller-Dieker Lissencephaly|Miller Dieker Lissencephaly Syndrome|Miller-Dieker Lissencephaly Syndrome|Miller Dieker Syndrome|Miller-Dieker Syndrome|MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED|SBH, INCLUDED|SCLH, INCLUDED|Subcortical Band Heterotopia|Subcortical Band Heterotopias|SUBCORTICAL BAND HETEROTOPIA, X-LINKED, INCLUDED|Subcortical Laminar Heterotopia|Syndrome, Classical Lissencephaly|Syndrome, Double Cortex|Syndrome, Miller-Dieker|Syndrome, Miller-Dieker Lissencephaly|Syndromes, Classical Lissencephaly|Type 1 Lissencephalies|Type 1 Lissencephaly|Type 1, Lissencephaly|Type 1s, Lissencephaly|X-Linked Lissencephalies|X Linked Lissencephaly|X-Linked Lissencephaly|XLIS Congenital abnormality|Genetic disease (inborn)|Nervous system disease Classical Swine Fever MESH:D006691 An acute, highly contagious disease affecting swine of all ages and caused by the CLASSICAL SWINE FEVER VIRUS. It has a sudden onset with high morbidity and mortality. MESH:D013553|MESH:D018182 C01.925.782.350.675.200|C22.905.170 C01.925.782.350.675|C22.905 Cholera, Hog|Hog Cholera|Swine Fever|Swine Fever, Classical Animal disease|Viral disease Clavicle, Pseudarthrosis Of, Congenital MESH:C562548 MESH:D011542 C26.404.468.627/C562548 C26.404.468.627 Wounds and injuries Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia MESH:C565729 MESH:D008844 C05.500.460.457/C565729|C05.660.207.540.460.457/C565729|C07.320.440.457/C565729|C07.650.500.460.457/C565729|C16.131.621.207.540.460.457/C565729|C16.131.850.500.460.457/C565729 C05.500.460.457|C05.660.207.540.460.457|C07.320.440.457|C07.650.500.460.457|C16.131.621.207.540.460.457|C16.131.850.500.460.457 Congenital abnormality|Mouth disease|Musculoskeletal disease Clear-cell metastatic renal cell carcinoma MESH:C538445 MESH:D002292 C04.557.470.200.025.390/C538445|C04.588.945.947.535.160/C538445|C12.050.351.937.820.535.160/C538445|C12.050.351.968.419.473.160/C538445|C12.200.758.820.750.160/C538445|C12.200.777.419.473.160/C538445|C12.900.820.535.160/C538445|C12.950.419.473.160/C538445|C12.950.983.535.160/C538445 C04.557.470.200.025.390|C04.588.945.947.535.160|C12.050.351.937.820.535.160|C12.050.351.968.419.473.160|C12.200.758.820.750.160|C12.200.777.419.473.160|C12.900.820.535.160|C12.950.419.473.160|C12.950.983.535.160 Cancer|Urogenital disease (female)|Urogenital disease (male) Cleft eyelid MESH:C000721288 MESH:D003103 C11.250.110/C000721288|C11.270.147/C000721288|C16.131.384.282/C000721288 C11.250.110|C11.270.147|C16.131.384.282 Coloboma of eyelid|Eyelid coloboma Congenital abnormality|Eye disease Cleft Lip MESH:D002971 DO:DOID:9296 Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. MESH:D008047|MESH:D009056 C07.465.409.225|C07.465.525.164|C07.650.525.164|C16.131.850.525.164 C07.465.409|C07.465.525|C07.650.525|C16.131.850.525 Cleft Lips|Harelip|Harelips|Lip, Cleft|Lips, Cleft Congenital abnormality|Mouth disease Cleft Lip, Congenital Healed MESH:C563468 MESH:D002971 C07.465.409.225/C563468|C07.465.525.164/C563468|C07.650.525.164/C563468|C16.131.850.525.164/C563468 C07.465.409.225|C07.465.525.164|C07.650.525.164|C16.131.850.525.164 Congenital Healed Cleft Lip Congenital abnormality|Mouth disease Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 MESH:C565603 MESH:D002971|MESH:D002972 C05.500.460.185/C565603|C05.660.207.540.460.185/C565603|C07.320.440.185/C565603|C07.465.409.225/C565603|C07.465.525.164/C565603|C07.465.525.185/C565603|C07.650.500.460.185/C565603|C07.650.525.164/C565603|C07.650.525.185/C565603|C16.131.621.207.540.460.185/C565603|C16.131.850.500.460.185/C565603|C16.131.850.525.164/C565603|C16.131.850.525.185/C565603 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Congenital abnormality|Mouth disease|Musculoskeletal disease Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 MESH:C565070 MESH:D002971|MESH:D004476 C07.465.409.225/C565070|C07.465.525.164/C565070|C07.650.525.164/C565070|C16.131.077.350/C565070|C16.131.831.350/C565070|C16.131.850.525.164/C565070|C16.320.850.250/C565070|C17.800.804.350/C565070|C17.800.827.250/C565070 C07.465.409.225|C07.465.525.164|C07.650.525.164|C16.131.077.350|C16.131.831.350|C16.131.850.525.164|C16.320.850.250|C17.800.804.350|C17.800.827.250 Orofacial Cleft 8 Congenital abnormality|Genetic disease (inborn)|Mouth disease|Skin disease Cleft Palate MESH:D002972 DO:DOID:674 Congenital fissure of the soft and/or hard palate, due to faulty fusion. MESH:D007569|MESH:D009056 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185 C05.500.460|C05.660.207.540.460|C07.320.440|C07.465.525|C07.650.500.460|C07.650.525|C16.131.621.207.540.460|C16.131.850.500.460|C16.131.850.525 Cleft Palate, Isolated|Cleft Palates|Palate, Cleft|Palates, Cleft Congenital abnormality|Mouth disease|Musculoskeletal disease Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly MESH:C563936 DO:DOID:0070419 MESH:D002972|MESH:D006228|MESH:D006330|MESH:D014564 C05.390.408/C563936|C05.500.460.185/C563936|C05.660.207.540.460.185/C563936|C05.660.585.988.425/C563936|C07.320.440.185/C563936|C07.465.525.185/C563936|C07.650.500.460.185/C563936|C07.650.525.185/C563936|C12.050.351.875/C563936|C12.200.706/C563936|C12.800/C563936|C14.240.400/C563936|C14.280.400/C563936|C16.131.240.400/C563936|C16.131.621.207.540.460.185/C563936|C16.131.621.585.988.500/C563936|C16.131.850.500.460.185/C563936|C16.131.850.525.185/C563936|C16.131.939/C563936 C05.390.408|C05.500.460.185|C05.660.207.540.460.185|C05.660.585.988.425|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C12.050.351.875|C12.200.706|C12.800|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.540.460.185|C16.131.621.585.988.500|C16.131.850.500.460.185|C16.131.850.525.185|C16.131.939 Acrocardiofacial Syndrome Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Cleft Palate, Deafness, and Oligodontia MESH:C565844 MESH:D000848|MESH:D002972|MESH:D005532|MESH:D006314 C05.330.495/C565844|C05.500.460.185/C565844|C05.660.207.540.460.185/C565844|C05.660.585.512.380/C565844|C07.320.440.185/C565844|C07.465.525.185/C565844|C07.650.500.460.185/C565844|C07.650.525.185/C565844|C07.650.800.100/C565844|C07.793.700.100/C565844|C09.218.458.341.562/C565844|C10.597.751.418.341.562/C565844|C16.131.621.207.540.460.185/C565844|C16.131.621.585.512.500/C565844|C16.131.850.500.460.185/C565844|C16.131.850.525.185/C565844|C16.131.850.800.100/C565844|C23.888.592.763.393.341.562/C565844 C05.330.495|C05.500.460.185|C05.660.207.540.460.185|C05.660.585.512.380|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C07.650.800.100|C07.793.700.100|C09.218.458.341.562|C10.597.751.418.341.562|C16.131.621.207.540.460.185|C16.131.621.585.512.500|C16.131.850.500.460.185|C16.131.850.525.185|C16.131.850.800.100|C23.888.592.763.393.341.562 Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Cleft Palate, Isolated, And Mental Retardation MESH:C566991 OMIM:119540 MESH:D002972|MESH:D008607 C05.500.460.185/C566991|C05.660.207.540.460.185/C566991|C07.320.440.185/C566991|C07.465.525.185/C566991|C07.650.500.460.185/C566991|C07.650.525.185/C566991|C10.597.606.360/C566991|C16.131.621.207.540.460.185/C566991|C16.131.850.500.460.185/C566991|C16.131.850.525.185/C566991|C23.888.592.604.646/C566991|F03.625.539/C566991 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.597.606.360|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C23.888.592.604.646|F03.625.539 CLEFT PALATE|CLEFT PALATE, ISOLATED|CP|CPI Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Cleft Palate-Lateral Synechia Syndrome MESH:C563047 DO:DOID:0080313 MESH:D007569|MESH:D009056 C05.500.460/C563047|C05.660.207.540.460/C563047|C07.320.440/C563047|C07.465.525/C563047|C07.650.500.460/C563047|C07.650.525/C563047|C16.131.621.207.540.460/C563047|C16.131.850.500.460/C563047|C16.131.850.525/C563047 C05.500.460|C05.660.207.540.460|C07.320.440|C07.465.525|C07.650.500.460|C07.650.525|C16.131.621.207.540.460|C16.131.850.500.460|C16.131.850.525 CPLS Syndrome Congenital abnormality|Mouth disease|Musculoskeletal disease Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss MESH:C536427 MESH:D000015|MESH:D002972|MESH:D006319|MESH:D019066|MESH:D019465 C05.500.460.185/C536427|C05.660.207.540.460.185/C536427|C05.660.207/C536427|C07.320.440.185/C536427|C07.465.525.185/C536427|C07.650.500.460.185/C536427|C07.650.525.185/C536427|C09.218.458.341.887/C536427|C10.597.751.418.341.887/C536427|C16.131.077/C536427|C16.131.621.207.540.460.185/C536427|C16.131.621.207/C536427|C16.131.850.500.460.185/C536427|C16.131.850.525.185/C536427|C23.550.291.812/C536427|C23.888.592.763.393.341.887/C536427 C05.500.460.185|C05.660.207|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.077|C16.131.621.207|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C23.550.291.812|C23.888.592.763.393.341.887 Unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES OMIM:616728 MESH:D002972|MESH:D011596|MESH:D019066 C05.500.460.185/616728|C05.660.207.540.460.185/616728|C07.320.440.185/616728|C07.465.525.185/616728|C07.650.500.460.185/616728|C07.650.525.185/616728|C10.597.606.881/616728|C16.131.621.207.540.460.185/616728|C16.131.850.500.460.185/616728|C16.131.850.525.185/616728|C23.550.291.812/616728|C23.888.592.604.882/616728 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.597.606.881|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C23.550.291.812|C23.888.592.604.882 CPRF Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Cleft Palate with Ankyloglossia MESH:C564442 MESH:D002972|MESH:D014060|MESH:D040181 C05.500.460.185/C564442|C05.660.207.540.460.185/C564442|C07.320.440.185/C564442|C07.465.525.185/C564442|C07.465.910/C564442|C07.650.500.460.185/C564442|C07.650.525.185/C564442|C16.131.621.207.540.460.185/C564442|C16.131.850.500.460.185/C564442|C16.131.850.525.185/C564442|C16.320.322/C564442 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.465.910|C07.650.500.460.185|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.322 Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Cleft palate X-linked MESH:C536426 OMIM:303400 MESH:D002972|MESH:D040181 C05.500.460.185/C536426|C05.660.207.540.460.185/C536426|C07.320.440.185/C536426|C07.465.525.185/C536426|C07.650.500.460.185/C536426|C07.650.525.185/C536426|C16.131.621.207.540.460.185/C536426|C16.131.850.500.460.185/C536426|C16.131.850.525.185/C536426|C16.320.322/C536426 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.322 CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED|Cleft Palate, X-Linked|CPX|X-linked cleft palate Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Cleft Soft Palate MESH:C562950 DO:DOID:0110214 MESH:D002972 C05.500.460.185/C562950|C05.660.207.540.460.185/C562950|C07.320.440.185/C562950|C07.465.525.185/C562950|C07.650.500.460.185/C562950|C07.650.525.185/C562950|C16.131.621.207.540.460.185/C562950|C16.131.850.500.460.185/C562950|C16.131.850.525.185/C562950 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185 Congenital abnormality|Mouth disease|Musculoskeletal disease Cleidocranial Dysplasia MESH:D002973 DO:DOID:13994|OMIM:119600 Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies. MESH:D010009|MESH:D019465 C05.116.099.708.207|C05.660.207.207|C16.131.621.207.207 C05.116.099.708|C05.660.207|C16.131.621.207 CLCD|CLCD1|Cleidocranial Digital Dysostoses|Cleidocranial Digital Dysostosis|Cleidocranial Dysostoses|Cleidocranial Dysostosis|CLEIDOCRANIAL DYSOSTOSIS;CCD CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED|CLEIDOCRANIAL DYSPLASIA 1|CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED|Cleidocranial Dysplasias|Dysostoses, Cleidocranial|Dysostoses, Cleidocranial Digital|Dysostosis, Cleidocranial|Dysostosis, Cleidocranial Digital|Dysplasia, Cleidocranial|Dysplasias, Cleidocranial|Marie Sainton Syndrome|Marie-Sainton Syndrome|Scheuthauer Marie Sainton Syndrome|Scheuthauer-Marie-Sainton Syndrome|Syndrome, Marie-Sainton|Syndrome, Scheuthauer-Marie-Sainton Congenital abnormality|Musculoskeletal disease Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only MESH:C563974 MESH:D002973|MESH:D014071 C05.116.099.708.207/C563974|C05.660.207.207/C563974|C07.650.800/C563974|C07.793.700/C563974|C16.131.621.207.207/C563974|C16.131.850.800/C563974 C05.116.099.708.207|C05.660.207.207|C07.650.800|C07.793.700|C16.131.621.207.207|C16.131.850.800 Congenital abnormality|Mouth disease|Musculoskeletal disease Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly MESH:C566119 MESH:D002973|MESH:D059327 C05.116.099.708.207/C566119|C05.660.207.207/C566119|C05.660.585.262/C566119|C16.131.621.207.207/C566119|C16.131.621.585.262/C566119 C05.116.099.708.207|C05.660.207.207|C05.660.585.262|C16.131.621.207.207|C16.131.621.585.262 Congenital abnormality|Musculoskeletal disease Cleidocranial Dysplasia, Recessive Form MESH:C565843 MESH:D002973 C05.116.099.708.207/C565843|C05.660.207.207/C565843|C16.131.621.207.207/C565843 C05.116.099.708.207|C05.660.207.207|C16.131.621.207.207 Congenital abnormality|Musculoskeletal disease Cleidorhizomelic syndrome MESH:C536428 MESH:D010009 C05.116.099.708/C536428|C16.320.728/C536428 C05.116.099.708|C16.320.728 Cleido rhizomelic syndrome|Rhizomelic shortness with clavicular defect|Wallis Zieff Goldblatt syndrome Genetic disease (inborn)|Musculoskeletal disease Clinical Deterioration MESH:D000075902 A critical disease progression, often measured by a set of clinical parameters, which activates HOSPITAL RAPID RESPONSE TEAM. MESH:D018450 C23.550.291.656.350 C23.550.291.656 Clinical Deteriorations|Deterioration, Clinical Pathology (process) Clonorchiasis MESH:D003003 DO:DOID:13767 Infection of the biliary passages with CLONORCHIS SINENSIS, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed) MESH:D014201 C01.610.335.865.148 C01.610.335.865 Clonorchiases|Clonorchis Infection|Clonorchis Infections|Clonorchis sinensis Infection|Clonorchis sinensis Infections|Infection, Clonorchis|Infection, Clonorchis sinensis|Infection, Opisthorchis sinensis|Opisthorchis sinensis Infection|Opisthorchis sinensis Infections Parasitic disease Clostridium Infections MESH:D003015 Infections with bacteria of the genus CLOSTRIDIUM and closely related CLOSTRIDIOIDES species. MESH:D016908 C01.150.252.410.222 C01.150.252.410 Clostridioides difficile Infection|Clostridioides Infection|Clostridioides Infections|Clostridioides perfringens Food Poisoning|Clostridioides perfringens Infection|Clostridioides perfringens Infections|Clostridioides sordellii Infection|Clostridium difficile Infection|Clostridium difficile Infections|Clostridium Infection|Clostridium perfringens Food Poisoning|Clostridium perfringens Infection|Clostridium perfringens Infections|Clostridium sordellii Infection|Clostridium sordellii Infections|Infection, Clostridioides difficile|Infection, Clostridioides sordellii|Infection, Clostridium|Infection, Clostridium difficile|Infection, Clostridium sordellii|Infections, Clostridium Bacterial infection or mycosis Cloverleaf skull micromelia thoracic dysplasia MESH:C536429 MESH:D001847|MESH:D010009 C05.116.099.708/C536429|C05.116/C536429|C16.320.728/C536429 C05.116|C05.116.099.708|C16.320.728 Micromelic bone dysplasia with cloverleaf skull Genetic disease (inborn)|Musculoskeletal disease Clubfoot MESH:D003025 DO:DOID:11836|OMIM:119800 A deformed foot in which the foot is plantarflexed, inverted, and adducted. MESH:D000070558 C05.330.488.655.063|C05.330.495.681.063|C05.660.585.512.380.813.063|C16.131.621.585.512.500.681.063 C05.330.488.655|C05.330.495.681|C05.660.585.512.380.813|C16.131.621.585.512.500.681 CCF|Clubfeet|Clubfeet, Congenital|Clubfoot, Congenital|CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY|Congenital Clubfeet|Congenital Clubfoot|Congenital Talipes Equinovarus|Equinovarus|Pie Torcido|Pie Torcidos|Talipes Equinovarus|Talipes Equinovarus, Congenital Congenital abnormality|Musculoskeletal disease Cluster Headache MESH:D003027 A primary headache disorder that is characterized by severe, strictly unilateral PAIN which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial SWEATING, eyelid EDEMA, and miosis. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) MESH:D051303 C10.228.140.546.399.937.500 C10.228.140.546.399.937 Atypical Cluster Headache|Atypical Cluster Headaches|Cephalgia, Histamine|Cephalgias, Histamine|Chronic Cluster Headache|Chronic Cluster Headaches|Ciliary Neuralgia|Ciliary Neuralgias|Cluster Headache, Atypical|Cluster Headache, Chronic|Cluster Headache, Episodic|Cluster Headaches|Cluster Headaches, Atypical|Cluster Headaches, Chronic|Cluster Headaches, Episodic|Cluster Headache Syndrome|Cluster Headache Syndromes|Episodic Cluster Headache|Episodic Cluster Headaches|Headache, Atypical Cluster|Headache, Chronic Cluster|Headache, Cluster|Headache, Episodic Cluster|Headaches, Atypical Cluster|Headaches, Chronic Cluster|Headaches, Cluster|Headaches, Episodic Cluster|Headache Syndrome, Cluster|Headache Syndromes, Cluster|Histamine Cephalgia|Histamine Cephalgias|Horton's Syndrome|Hortons Syndrome|Horton Syndrome|Migraine, Neuralgic|Migraines, Neuralgic|Neuralgia, Ciliary|Neuralgias, Ciliary|Neuralgic Migraine|Neuralgic Migraines|Syndrome, Cluster Headache|Syndrome, Horton|Syndrome, Horton's|Syndromes, Cluster Headache Nervous system disease Cluster Headache, Familial MESH:C566117 MESH:D003027 C10.228.140.546.399.937.500/C566117 C10.228.140.546.399.937.500 Nervous system disease COACH syndrome MESH:C536430 DO:DOID:0111589|OMIM:216360 MESH:D000015|MESH:D001259|MESH:D002779|MESH:D003103|MESH:D008107 C06.130.120.135/C536430|C06.552/C536430|C10.597.350.090/C536430|C11.250.110/C536430|C11.270.147/C536430|C16.131.077/C536430|C16.131.384.282/C536430|C23.888.592.350.090/C536430 C06.130.120.135|C06.552|C10.597.350.090|C11.250.110|C11.270.147|C16.131.077|C16.131.384.282|C23.888.592.350.090 Cerebellar vermis hypo-aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis|Cerebellar Vermis Hypo-Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis|CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS|COACH1|COACH SYNDROME|COACH SYNDROME 1|JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS Congenital abnormality|Digestive system disease|Eye disease|Nervous system disease|Signs and symptoms Coagulation Protein Disorders MESH:D020147 Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins. MESH:D001778 C15.378.100.141 C15.378.100 Blood Coagulation Factor Deficiencies|Coagulation Protein Disorder|Coagulation Proteins Disorder|Coagulation Proteins Disorders|Disorder, Coagulation Protein|Disorder, Coagulation Proteins|Disorders, Coagulation Protein|Disorders, Coagulation Proteins|Protein Disorder, Coagulation|Protein Disorders, Coagulation|Proteins Disorder, Coagulation|Proteins Disorders, Coagulation Blood disease Coarse facial features MESH:C000721322 MESH:D019066 C23.550.291.812/C000721322 C23.550.291.812 Coarce facies|Coarse face|Pugilistic facies Pathology (process) Cobblestone Lissencephaly MESH:D054222 The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease. MESH:D054081|MESH:D054082 C10.500.507.450.499.249|C16.131.666.507.450.249|C16.131.666.507.450.499.249 C10.500.507.450.499|C16.131.666.507.450|C16.131.666.507.450.499 Cobblestone Complex|Cobblestone Dysplasia|Cobblestone Dysplasias|Cobblestone Lissencephalies|Dysplasia, Cobblestone|Dysplasias, Cobblestone|Lissencephalies, Cobblestone|Lissencephaly, Cobblestone|Lissencephaly Type 2 Congenital abnormality|Nervous system disease Cocaine-Related Disorders MESH:D019970 DO:DOID:809|DO:DOID:9975 Disorders related or resulting from use of cocaine. MESH:D019966 C25.775.300|F03.900.300 C25.775|F03.900 Abuse, Cocaine|Addiction, Cocaine|Cocaine Abuse|Cocaine Addiction|Cocaine Dependence|Cocaine-Related Disorder|Cocaine Related Disorders|Dependence, Cocaine|Dependences, Cocaine|Disorder, Cocaine-Related|Disorders, Cocaine-Related Mental disorder|Substance-related disorder Cocarcinogenesis MESH:D003043 The combination of two or more different factors in the production of cancer. MESH:D063646 C04.697.098.875|C23.550.727.098.750 C04.697.098|C23.550.727.098 Cocarcinogeneses Cancer|Pathology (process) Coccidioidomycosis MESH:D003047 DO:DOID:13450 Infection with a fungus of the genus COCCIDIOIDES, endemic to the SOUTHWESTERN UNITED STATES. It is sometimes called valley fever but should not be confused with RIFT VALLEY FEVER. Infection is caused by inhalation of airborne, fungal particles known as arthroconidia, a form of FUNGAL SPORES. A primary form is an acute, benign, self-limited respiratory infection. A secondary form is a virulent, severe, chronic, progressive granulomatous disease with systemic involvement. It can be detected by use of COCCIDIOIDIN. MESH:D009181 C01.150.703.203 C01.150.703 Coccidioides immitis Infection|Coccidioides immitis Infections|Coccidioidomycoses|Infection, Coccidioides immitis|Infections, Coccidioides immitis|San Joaquin Valley Fever|Valley Fever|Valley Fevers Bacterial infection or mycosis Coccidiosis MESH:D003048 DO:DOID:2113 Protozoan infection found in animals and man. It is caused by several different genera of COCCIDIA. MESH:D011528 C01.610.752.250 C01.610.752 Besnoitiases|Besnoitiasis|Besnoitioses|Besnoitiosis|Coccidioses Parasitic disease Cochlear Diseases MESH:D015834 DO:DOID:5463 Pathological processes of the snail-like structure (COCHLEA) of the inner ear (LABYRINTH) which can involve its nervous tissue, blood vessels, or fluid (ENDOLYMPH). MESH:D007759 C09.218.568.120 C09.218.568 Cochlear Disease|Disease, Cochlear|Diseases, Cochlear Ear-nose-throat disease Cochleosaccular degeneration of the inner ear and progressive cataracts MESH:C536432 MESH:D002386|MESH:D006319 C09.218.458.341.887/C536432|C10.597.751.418.341.887/C536432|C11.510.245/C536432|C23.888.592.763.393.341.887/C536432 C09.218.458.341.887|C10.597.751.418.341.887|C11.510.245|C23.888.592.763.393.341.887 Cochleosaccular Degeneration|Cochleosaccular Degeneration of the Inner Ear with Progressive Cataracts Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms Cockayne Syndrome MESH:D003057 DO:DOID:2962|OMIM:133540|OMIM:216400 A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms. MESH:D000015|MESH:D004392|MESH:D020271|MESH:D049914 C05.116.099.343.250|C10.574.500.362|C16.131.077.250|C16.320.240.562|C16.320.400.200|C18.452.284.250 C05.116.099.343|C10.574.500|C16.131.077|C16.320.240|C16.320.400|C18.452.284 COCKAYNE SYNDROME A|COCKAYNE SYNDROME B|Cockayne Syndrome, Group A|Cockayne Syndrome, Group B|Cockayne Syndrome, Group C|Cockayne Syndrome Type 3|Cockayne Syndrome, Type A|Cockayne Syndrome, Type B|Cockayne Syndrome Type C|Cockayne Syndrome, Type C|Cockayne Syndrome, Type I|Cockayne Syndrome, Type II|Cockayne Syndrome, Type III|CSA|CSB|Dwarfism-Retinal Atrophy-Deafness Syndrome|Group A Cockayne Syndrome|Group B Cockayne Syndrome|Group C Cockayne Syndrome|Progeria Like Syndrome|Progeria-Like Syndrome|Progeria-Like Syndromes|Progeroid Nanism|Syndrome, Cockayne|Syndrome, Progeria-Like|Type A Cockayne Syndrome|Type B Cockayne Syndrome|Type C Cockayne Syndrome|Type I Cockayne Syndrome|Type II Cockayne Syndrome|Type III Cockayne Syndrome Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease CODAS syndrome MESH:C536434 DO:DOID:0111274|OMIM:600373 MESH:D005124|MESH:D006130|MESH:D006618|MESH:D010009|MESH:D014071|MESH:D019465 C05.116.099.708/C536434|C05.660.207/C536434|C05.660.297.500/C536434|C07.650.800/C536434|C07.793.700/C536434|C11.250/C536434|C16.131.384/C536434|C16.131.621.207/C536434|C16.131.621.297.500/C536434|C16.131.621.449/C536434|C16.131.850.800/C536434|C16.320.728/C536434|C23.550.393/C536434 C05.116.099.708|C05.660.207|C05.660.297.500|C07.650.800|C07.793.700|C11.250|C16.131.384|C16.131.621.207|C16.131.621.297.500|C16.131.621.449|C16.131.850.800|C16.320.728|C23.550.393 CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME|Cerebral, ocular, dental, auricular, and skeletal syndrome|Cerebral, Ocular, Dental, Auricular, Skeletal Anomalies Syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Pathology (process) COD (cerebroocular dysgenesis) MESH:C535631 MESH:D058494 C10.500.507.450.499.249.500/C535631|C11.270.881/C535631|C16.131.666.507.450.499.249.500/C535631|C16.320.577.750/C535631 C10.500.507.450.499.249.500|C11.270.881|C16.131.666.507.450.499.249.500|C16.320.577.750 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Coenzyme Q10 Deficiency MESH:C564403 MESH:D001259|MESH:D018908|MESH:D028361 C05.651.515/C564403|C10.597.350.090/C564403|C10.597.613.593/C564403|C18.452.660/C564403|C23.550.695/C564403|C23.888.592.350.090/C564403|C23.888.592.608.593/C564403 C05.651.515|C10.597.350.090|C10.597.613.593|C18.452.660|C23.550.695|C23.888.592.350.090|C23.888.592.608.593 Coenzyme Q Deficiency|Coq10 Deficiency, Primary|CoQ Deficiency|Ubiquinone Deficiency Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms COENZYME Q10 DEFICIENCY, PRIMARY, 1 OMIM:607426 DO:DOID:0070238 MESH:C564403 C05.651.515/C564403/607426|C10.597.350.090/C564403/607426|C10.597.613.593/C564403/607426|C18.452.660/C564403/607426|C23.550.695/C564403/607426|C23.888.592.350.090/C564403/607426|C23.888.592.608.593/C564403/607426 C05.651.515/C564403|C10.597.350.090/C564403|C10.597.613.593/C564403|C18.452.660/C564403|C23.550.695/C564403|C23.888.592.350.090/C564403|C23.888.592.608.593/C564403 COENZYME Q DEFICIENCY 1|COQ10D1|CoQ10 DEFICIENCY, PRIMARY, 1|CoQ DEFICIENCY 1|UBIQUINONE DEFICIENCY 1 Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms COENZYME Q10 DEFICIENCY, PRIMARY, 2 OMIM:614651 DO:DOID:0070239 MESH:C564403 C05.651.515/C564403/614651|C10.597.350.090/C564403/614651|C10.597.613.593/C564403/614651|C18.452.660/C564403/614651|C23.550.695/C564403/614651|C23.888.592.350.090/C564403/614651|C23.888.592.608.593/C564403/614651 C05.651.515/C564403|C10.597.350.090/C564403|C10.597.613.593/C564403|C18.452.660/C564403|C23.550.695/C564403|C23.888.592.350.090/C564403|C23.888.592.608.593/C564403 COQ10D2 Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms COENZYME Q10 DEFICIENCY, PRIMARY, 3 OMIM:614652 DO:DOID:0070240 MESH:C564403 C05.651.515/C564403/614652|C10.597.350.090/C564403/614652|C10.597.613.593/C564403/614652|C18.452.660/C564403/614652|C23.550.695/C564403/614652|C23.888.592.350.090/C564403/614652|C23.888.592.608.593/C564403/614652 C05.651.515/C564403|C10.597.350.090/C564403|C10.597.613.593/C564403|C18.452.660/C564403|C23.550.695/C564403|C23.888.592.350.090/C564403|C23.888.592.608.593/C564403 COQ10D3 Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms COENZYME Q10 DEFICIENCY, PRIMARY, 4 OMIM:612016 DO:DOID:0070241 MESH:C564403|MESH:C567436 C05.651.515/C564403/612016|C10.228.140.252.190.530/C567436/612016|C10.228.140.252.700.700/C567436/612016|C10.228.854.787.875/C567436/612016|C10.574.500.825.700/C567436/612016|C10.597.350.090.500.530/C567436/612016|C10.597.350.090/C564403/612016|C10.597.613.593/C564403/612016|C16.320.400.780.875/C567436/612016|C18.452.660/C564403/612016|C23.550.695/C564403/612016|C23.888.592.350.090/C564403/612016|C23.888.592.608.593/C564403/612016 C05.651.515/C564403|C10.228.140.252.190.530/C567436|C10.228.140.252.700.700/C567436|C10.228.854.787.875/C567436|C10.574.500.825.700/C567436|C10.597.350.090.500.530/C567436|C10.597.350.090/C564403|C10.597.613.593/C564403|C16.320.400.780.875/C567436|C18.452.660/C564403|C23.550.695/C564403|C23.888.592.350.090/C564403|C23.888.592.608.593/C564403 COQ10D4|SCAR9|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms COENZYME Q10 DEFICIENCY, PRIMARY, 5 OMIM:614654 DO:DOID:0070242 MESH:C564403 C05.651.515/C564403/614654|C10.597.350.090/C564403/614654|C10.597.613.593/C564403/614654|C18.452.660/C564403/614654|C23.550.695/C564403/614654|C23.888.592.350.090/C564403/614654|C23.888.592.608.593/C564403/614654 C05.651.515/C564403|C10.597.350.090/C564403|C10.597.613.593/C564403|C18.452.660/C564403|C23.550.695/C564403|C23.888.592.350.090/C564403|C23.888.592.608.593/C564403 COQ10D5 Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms COENZYME Q10 DEFICIENCY, PRIMARY, 6 OMIM:614650 DO:DOID:0070243 MESH:C564403 C05.651.515/C564403/614650|C10.597.350.090/C564403/614650|C10.597.613.593/C564403/614650|C18.452.660/C564403/614650|C23.550.695/C564403/614650|C23.888.592.350.090/C564403/614650|C23.888.592.608.593/C564403/614650 C05.651.515/C564403|C10.597.350.090/C564403|C10.597.613.593/C564403|C18.452.660/C564403|C23.550.695/C564403|C23.888.592.350.090/C564403|C23.888.592.608.593/C564403 COQ10D6 Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms COENZYME Q10 DEFICIENCY, PRIMARY, 7 OMIM:616276 DO:DOID:0070244 MESH:C564403 C05.651.515/C564403/616276|C10.597.350.090/C564403/616276|C10.597.613.593/C564403/616276|C18.452.660/C564403/616276|C23.550.695/C564403/616276|C23.888.592.350.090/C564403/616276|C23.888.592.608.593/C564403/616276 C05.651.515/C564403|C10.597.350.090/C564403|C10.597.613.593/C564403|C18.452.660/C564403|C23.550.695/C564403|C23.888.592.350.090/C564403|C23.888.592.608.593/C564403 COQ10D7 Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms COENZYME Q10 DEFICIENCY, PRIMARY, 8 OMIM:616733 DO:DOID:0070245 MESH:C564403 C05.651.515/C564403/616733|C10.597.350.090/C564403/616733|C10.597.613.593/C564403/616733|C18.452.660/C564403/616733|C23.550.695/C564403/616733|C23.888.592.350.090/C564403/616733|C23.888.592.608.593/C564403/616733 C05.651.515/C564403|C10.597.350.090/C564403|C10.597.613.593/C564403|C18.452.660/C564403|C23.550.695/C564403|C23.888.592.350.090/C564403|C23.888.592.608.593/C564403 COQ10D8 Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Coffin-Lowry Syndrome MESH:D038921 DO:DOID:3783|OMIM:303600 A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations. MESH:D038901 C10.597.606.360.455.249|C16.320.322.500.249|C16.320.400.525.249 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 CLS|Coffin Lowry Syndrome|Coffin Syndrome|Mental Retardation with Osteocartilaginous Abnormalities|Syndrome, Coffin|Syndrome, Coffin-Lowry Genetic disease (inborn)|Nervous system disease Coffin-Siris syndrome MESH:C536436 DO:DOID:1925|OMIM:135900|OMIM:614607|OMIM:614608|OMIM:614609|OMIM:615866|OMIM:616938 MESH:D000015|MESH:D006228|MESH:D008607|MESH:D008844 C05.390.408/C536436|C05.500.460.457/C536436|C05.660.207.540.460.457/C536436|C05.660.585.988.425/C536436|C07.320.440.457/C536436|C07.650.500.460.457/C536436|C10.597.606.360/C536436|C16.131.077/C536436|C16.131.621.207.540.460.457/C536436|C16.131.621.585.988.500/C536436|C16.131.850.500.460.457/C536436|C23.888.592.604.646/C536436|F03.625.539/C536436 C05.390.408|C05.500.460.457|C05.660.207.540.460.457|C05.660.585.988.425|C07.320.440.457|C07.650.500.460.457|C10.597.606.360|C16.131.077|C16.131.621.207.540.460.457|C16.131.621.585.988.500|C16.131.850.500.460.457|C23.888.592.604.646|F03.625.539 COFFIN-SIRIS SYNDROME|COFFIN-SIRIS SYNDROME 1|COFFIN-SIRIS SYNDROME 2|COFFIN-SIRIS SYNDROME 3|COFFIN-SIRIS SYNDROME 4|COFFIN-SIRIS SYNDROME 5|COFFIN-SIRIS SYNDROME 9|CSS|CSS1|CSS2|CSS3|CSS4|CSS5|CSS9|Fifth digit syndrome|HHID|Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features|IDDMOH|INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM|MENTAL RETARDATION, AUTOSOMAL DOMINANT 12|MENTAL RETARDATION, AUTOSOMAL DOMINANT 14;MRD14 CHROMOSOME 1p36.11 DUPLICATION SYNDROME, INCLUDED|MENTAL RETARDATION, AUTOSOMAL DOMINANT 15|MENTAL RETARDATION, AUTOSOMAL DOMINANT 16|MENTAL RETARDATION, AUTOSOMAL DOMINANT 27|MRD12|MRD15|MRD16|MRD27 Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Coffin syndrome 1 MESH:C536435 MESH:D004827|MESH:D006130|MESH:D007738|MESH:D008607|MESH:D012600 C05.116.900.800.500/C536435|C05.116.900.800.875/C536435|C10.228.140.490/C536435|C10.597.606.360/C536435|C23.550.393/C536435|C23.888.592.604.646/C536435|F03.625.539/C536435 C05.116.900.800.500|C05.116.900.800.875|C10.228.140.490|C10.597.606.360|C23.550.393|C23.888.592.604.646|F03.625.539 Dwarfism, lean spastic type|Lean spastic dwarfism Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Cogan Syndrome MESH:D055952 DO:DOID:0060216 A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis. MESH:D000160|MESH:D005128|MESH:D014657 C10.292.910.299|C11.180|C14.907.940.320 C10.292.910|C11|C14.907.940 Cogan's Syndrome|Cogans Syndrome|Syndrome, Cogan|Syndrome, Cogan's|Syndrome, Cogans Cardiovascular disease|Eye disease|Nervous system disease Cognition Disorders MESH:D003072 Disorders characterized by disturbances in mental processes related to learning, thinking, reasoning, and judgment. MESH:D019965 F03.615.250 F03.615 Disorder, Cognition|Disorders, Cognition|Overinclusion Mental disorder Cognitive Dysfunction MESH:D060825 Diminished or impaired mental and/or intellectual function. MESH:D003072 F03.615.250.700 F03.615.250 Cognitive Decline|Cognitive Declines|Cognitive Disorder|Cognitive Disorders|Cognitive Dysfunctions|Cognitive Impairment|Cognitive Impairment, Mild|Cognitive Impairments|Cognitive Impairments, Mild|Decline, Cognitive|Declines, Cognitive|Deterioration, Mental|Deteriorations, Mental|Disorder, Cognitive|Disorders, Cognitive|Dysfunction, Cognitive|Dysfunctions, Cognitive|Impairment, Cognitive|Impairment, Mild Cognitive|Impairments, Cognitive|Impairments, Mild Cognitive|Mental Deterioration|Mental Deteriorations|Mild Cognitive Impairment|Mild Cognitive Impairments Mental disorder COGNITIVE FUNCTION 1, SOCIAL OMIM:300082 MESH:D014424 C12.050.351.875.253.309.872/300082|C12.050.351.875.253.795.750/300082|C12.200.706.316.309.872/300082|C12.200.706.316.795.750/300082|C12.800.316.309.872/300082|C12.800.316.795.750/300082|C14.240.400.980/300082|C14.280.400.980/300082|C16.131.240.400.970/300082|C16.131.260.830.835.750/300082|C16.131.939.316.309.872/300082|C16.131.939.316.795.750/300082|C16.320.180.830.835.750/300082|C19.391.119.309.872/300082|C19.391.119.795.750/300082 C12.050.351.875.253.309.872|C12.050.351.875.253.795.750|C12.200.706.316.309.872|C12.200.706.316.795.750|C12.800.316.309.872|C12.800.316.795.750|C14.240.400.980|C14.280.400.980|C16.131.240.400.970|C16.131.260.830.835.750|C16.131.939.316.309.872|C16.131.939.316.795.750|C16.320.180.830.835.750|C19.391.119.309.872|C19.391.119.795.750 CGF1|SOCIAL COGNITION Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA OMIM:614306 MESH:D003072 F03.615.250/614306 F03.615.250 CIAT Mental disorder Cohen syndrome MESH:C536438 DO:DOID:0111590|OMIM:216550 MESH:D002658|MESH:D008607|MESH:D008831|MESH:D009123|MESH:D009216|MESH:D009765|MESH:D012162 C05.660.207.620/C536438|C10.500.507.400.500/C536438|C10.597.606.360/C536438|C10.597.613.575/C536438|C11.270.612/C536438|C11.744.636/C536438|C11.768.585/C536438|C16.131.621.207.620/C536438|C16.131.666.507.400.500/C536438|C18.654.726.750.500/C536438|C23.888.144.699.500/C536438|C23.888.592.604.646/C536438|C23.888.592.608.575/C536438|F03.625.421/C536438|F03.625.539/C536438 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C10.597.613.575|C11.270.612|C11.744.636|C11.768.585|C16.131.621.207.620|C16.131.666.507.400.500|C18.654.726.750.500|C23.888.144.699.500|C23.888.592.604.646|C23.888.592.608.575|F03.625.421|F03.625.539 CHS1, FORMERLY|COH|COH1|Hypotonia, Obesity, and Prominent Incisors|Mirhosseini-Holmes-Walton syndrome|Norio Syndrome|Obesity-Hypotonia Syndrome|Pepper syndrome|Prominent Incisors-Obesity-Hypotonia Syndrome|Retinopathy, Pigmentary, And Mental Retardation|Retinopathy pigmentary mental retardation Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Nutrition disorder|Signs and symptoms Coinfection MESH:D060085 Simultaneous infection of a host organism by two or more pathogens. In virology, coinfection commonly refers to simultaneous infection of a single cell by two or more different viruses. MESH:D007239 C01.218 C01 Co infection|Co-infection|Co-infections|Coinfections|Infection, Mixed|Infection, Polymicrobial|Infection, Secondary|Infections, Mixed|Infections, Polymicrobial|Infections, Secondary|Mixed Infection|Mixed Infections|Polymicrobial Infection|Polymicrobial Infections|Secondary Infection|Secondary Infections Colangite esclerosante porracoccidiodomicose MESH:C531768 MESH:D010229 C01.150.703.700/C531768 C01.150.703.700 Bacterial infection or mycosis Cold Hypersensitivity MESH:C569627 MESH:D056587 C16.320.382.500/C569627|C17.800.827.368.500/C569627|C17.800.862.945.533.500.500/C569627|C20.543.480.904.533.500.500/C569627|C23.550.291.500.360.500.500/C569627 C16.320.382.500|C17.800.827.368.500|C17.800.862.945.533.500.500|C20.543.480.904.533.500.500|C23.550.291.500.360.500.500 Genetic disease (inborn)|Immune system disease|Pathology (process)|Skin disease Cold Injury MESH:D000067390 A physical injury caused by exposure of the body to extremely low ambient temperatures that may lead to loss of body parts, or in extreme cases, death. Examples of cold injury are FROSTBITE and CHILBLAINS. MESH:D014947 C26.212 C26 Cold Injuries|Injuries, Cold|Injury, Cold Wounds and injuries Cole Carpenter syndrome MESH:C535963 DO:DOID:0060438|OMIM:112240|OMIM:616294 MESH:D003398|MESH:D005124|MESH:D006849|MESH:D010013 C05.116.099.370.894.232/C535963|C05.116.099.708.685/C535963|C05.660.207.240/C535963|C05.660.906.364/C535963|C10.228.140.602/C535963|C11.250/C535963|C16.131.384/C535963|C16.131.621.207.240/C535963|C16.131.621.906.364/C535963|C16.320.737/C535963|C17.300.200.540/C535963 C05.116.099.370.894.232|C05.116.099.708.685|C05.660.207.240|C05.660.906.364|C10.228.140.602|C11.250|C16.131.384|C16.131.621.207.240|C16.131.621.906.364|C16.320.737|C17.300.200.540 BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES|CLCRP1|CLCRP2|Cole-Carpenter Syndrome|COLE-CARPENTER SYNDROME 1|COLE-CARPENTER SYNDROME 2 Congenital abnormality|Connective tissue disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease COLE DISEASE OMIM:615522 MESH:D002114|MESH:D007645|MESH:D017496 C16.320.850.475/615522|C17.800.428.435/615522|C17.800.621.440/615522|C17.800.827.475/615522|C18.452.174.130/615522 C16.320.850.475|C17.800.428.435|C17.800.621.440|C17.800.827.475|C18.452.174.130 COLED|GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION Genetic disease (inborn)|Metabolic disease|Skin disease Colic MESH:D003085 A clinical syndrome with intermittent abdominal pain characterized by sudden onset and cessation that is commonly seen in infants. It is usually associated with obstruction of the INTESTINES; of the CYSTIC DUCT; or of the URINARY TRACT. MESH:D007232 C16.614.166 C16.614 Abdominal Cramp|Abdominal Cramps|Colic, Infantile|Cramp, Abdominal|Cramps, Abdominal|Infantile Colic Infant-newborn disease Colitis MESH:D003092 DO:DOID:0060180 Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER. MESH:D003108|MESH:D005759 C06.405.205.265|C06.405.469.158.188 C06.405.205|C06.405.469.158 Colitides Digestive system disease Colitis-Associated Neoplasms MESH:D000083023 Colonic neoplasms associated with chronic inflammation conditions such as ULCERATIVE COLITIS and CROHN DISEASE. MESH:D003110 C04.588.274.476.411.307.180.400|C06.301.371.411.307.180.400|C06.405.249.411.307.180.400|C06.405.469.158.356.180.400|C06.405.469.491.307.180.400 C04.588.274.476.411.307.180|C06.301.371.411.307.180|C06.405.249.411.307.180|C06.405.469.158.356.180|C06.405.469.491.307.180 Cancer, Colitis-Associated Colon|Cancer, Colitis-Associated Colorectal|Colitis Associated Cancer|Colitis-Associated Cancer|Colitis-Associated Cancers|Colitis Associated Colon Cancer|Colitis-Associated Colon Cancer|Colitis-Associated Colon Cancers|Colitis Associated Colorectal Cancer|Colitis-Associated Colorectal Cancer|Colitis-Associated Colorectal Cancers|Colitis-Associated Neoplasm|Colitis Associated Neoplasms|Colon Cancer, Colitis-Associated|Colorectal Cancer, Colitis-Associated|Neoplasm, Colitis-Associated Cancer|Digestive system disease Colitis, Collagenous MESH:D046729 DO:DOID:0060183 A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN. MESH:D046728 C06.405.205.265.173.500|C06.405.469.158.188.173.500 C06.405.205.265.173|C06.405.469.158.188.173 Collagenous Colitis Digestive system disease Colitis, Ischemic MESH:D017091 DO:DOID:0060181 Inflammation of the COLON due to colonic ISCHEMIA resulting from alterations in systemic circulation or local vasculature. MESH:D003092|MESH:D014652 C06.405.205.265.115|C06.405.469.158.188.115|C14.907.286 C06.405.205.265|C06.405.469.158.188|C14.907 Ischemic Colitis Cardiovascular disease|Digestive system disease Colitis, Lymphocytic MESH:D046730 DO:DOID:0060184 A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria). MESH:D046728 C06.405.205.265.173.750|C06.405.469.158.188.173.750 C06.405.205.265.173|C06.405.469.158.188.173 Lymphocytic Colitis Digestive system disease Colitis, Microscopic MESH:D046728 DO:DOID:0060182 A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology. MESH:D003092 C06.405.205.265.173|C06.405.469.158.188.173 C06.405.205.265|C06.405.469.158.188 Microscopic Colitis Digestive system disease Colitis, Ulcerative MESH:D003093 DO:DOID:8577|OMIM:191390 Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN. MESH:D003092|MESH:D015212 C06.405.205.265.231|C06.405.205.731.249|C06.405.469.158.188.231|C06.405.469.432.249 C06.405.205.265|C06.405.205.731|C06.405.469.158.188|C06.405.469.432 Colitis Gravis|IBD11|Idiopathic Proctocolitis|INFLAMMATORY BOWEL DISEASE 11|Inflammatory Bowel Disease, Ulcerative Colitis Type|Ulcerative Colitis Digestive system disease Collagen Diseases MESH:D003095 DO:DOID:854 Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494) MESH:D003240 C17.300.200 C17.300 Collagen Disease|Disease, Collagen|Diseases, Collagen Connective tissue disease Collagenoma, Familial Cutaneous MESH:C562925 MESH:D003095|MESH:D009386|MESH:D012878 C04.588.805/C562925|C04.700/C562925|C16.320.700/C562925|C17.300.200/C562925|C17.800.882/C562925 C04.588.805|C04.700|C16.320.700|C17.300.200|C17.800.882 Cancer|Connective tissue disease|Genetic disease (inborn)|Skin disease Collagenopathy, type 2 alpha 1 MESH:C535964 MESH:D010009 C05.116.099.708/C535964|C16.320.728/C535964 C05.116.099.708|C16.320.728 Cartilage collagen Genetic disease (inborn)|Musculoskeletal disease Collagenosis, Familial Reactive Perforating MESH:C565687 MESH:D003095|MESH:D012873 C16.320.850/C565687|C17.300.200/C565687|C17.800.827/C565687 C16.320.850|C17.300.200|C17.800.827 Connective tissue disease|Genetic disease (inborn)|Skin disease Collagenous Sprue MESH:D064068 A malabsorption syndrome characterized by collagenous mucosal lesions of the SMALL INTESTINE, atrophy of MICROVILLI, severe malabsorption, diarrhea, and MALNUTRITION often refractory to a gluten-free diet. MESH:D008286 C06.405.469.637.378|C18.452.603.314 C06.405.469.637|C18.452.603 Collagenous Sprues|Sprue, Collagenous|Sprues, Collagenous Digestive system disease|Metabolic disease Colles' Fracture MESH:D003100 Fracture of the lower end of the radius in which the lower fragment is displaced posteriorly. MESH:D000072039|MESH:D011885 C05.550.518.336.500|C26.289.336.500|C26.404.562.356 C05.550.518.336|C26.289.336|C26.404.562 Colles Fracture|Fracture, Colles' Musculoskeletal disease|Wounds and injuries Colloid Cysts MESH:D056364 Benign, congenital, neuroepithelial cysts that are typically filled with a viscous mucus. They usually arise in the anterior portion of the THIRD VENTRICLE between the fornices. MESH:D003560|MESH:D020863 C04.182.199|C04.588.614.250.387.200|C10.500.142.200|C10.551.240.375.200|C16.131.666.142.200 C04.182|C04.588.614.250.387|C10.500.142|C10.551.240.375|C16.131.666.142 Colloid Cyst|Cyst, Colloid|Cysts, Colloid Cancer|Congenital abnormality|Nervous system disease Colloid cysts of third ventricle MESH:C535966 MESH:D056364 C04.182.199/C535966|C04.588.614.250.387.200/C535966|C10.500.142.200/C535966|C10.551.240.375.200/C535966|C16.131.666.142.200/C535966 C04.182.199|C04.588.614.250.387.200|C10.500.142.200|C10.551.240.375.200|C16.131.666.142.200 Neuroepithelial cysts of third ventricle Cancer|Congenital abnormality|Nervous system disease Coloboma MESH:D003103 DO:DOID:12270|OMIM:120200|OMIM:216820 Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. MESH:D005124|MESH:D015785 C11.250.110|C11.270.147|C16.131.384.282 C11.250|C11.270|C16.131.384 COI|Coloboma, Ocular|COLOBOMA, OCULAR, AUTOSOMAL DOMINANT|COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE|Coloboma Of Iris, Choroid, And Retina|Colobomas|Colobomas, Ocular|Colobomas, Uveoretinal|Coloboma, Uveoretinal|Ocular Coloboma|Ocular Colobomas|Uveoretinal Coloboma|Uveoretinal Colobomas Congenital abnormality|Eye disease Coloboma, cleft lip-palate and mental retardation syndrome MESH:C535971 DO:DOID:0111249 MESH:D002971|MESH:D002972|MESH:D003103|MESH:D006319|MESH:D006417|MESH:D008607|MESH:D008850 C05.500.460.185/C535971|C05.660.207.540.460.185/C535971|C07.320.440.185/C535971|C07.465.409.225/C535971|C07.465.525.164/C535971|C07.465.525.185/C535971|C07.650.500.460.185/C535971|C07.650.525.164/C535971|C07.650.525.185/C535971|C09.218.458.341.887/C535971|C10.597.606.360/C535971|C10.597.751.418.341.887/C535971|C11.250.110/C535971|C11.250.566/C535971|C11.270.147/C535971|C12.050.351.968.934.442/C535971|C12.200.777.934.442/C535971|C12.950.934.442/C535971|C16.131.384.282/C535971|C16.131.384.666/C535971|C16.131.621.207.540.460.185/C535971|C16.131.850.500.460.185/C535971|C16.131.850.525.164/C535971|C16.131.850.525.185/C535971|C23.550.414.849/C535971|C23.888.592.604.646/C535971|C23.888.592.763.393.341.887/C535971|F03.625.539/C535971 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C09.218.458.341.887|C10.597.606.360|C10.597.751.418.341.887|C11.250.110|C11.250.566|C11.270.147|C12.050.351.968.934.442|C12.200.777.934.442|C12.950.934.442|C16.131.384.282|C16.131.384.666|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C23.550.414.849|C23.888.592.604.646|C23.888.592.763.393.341.887|F03.625.539 Coloboma-microphthalmos syndrome|Coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip-palate|Uveal coloboma-cleft lip-palate-mental retardation syndrome Congenital abnormality|Ear-nose-throat disease|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome MESH:C566623 MESH:D003103|MESH:D008607|MESH:D009765 C10.597.606.360/C566623|C11.250.110/C566623|C11.270.147/C566623|C16.131.384.282/C566623|C18.654.726.750.500/C566623|C23.888.144.699.500/C566623|C23.888.592.604.646/C566623|F03.625.539/C566623 C10.597.606.360|C11.250.110|C11.270.147|C16.131.384.282|C18.654.726.750.500|C23.888.144.699.500|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Nervous system disease|Nutrition disorder|Signs and symptoms Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities MESH:C567328 MESH:D018981 C16.320.565.202.125/C567328|C18.452.648.202.125/C567328 C16.320.565.202.125|C18.452.648.202.125 Genetic disease (inborn)|Metabolic disease COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR IMPAIRED INTELLECTUAL DEVELOPMENT OMIM:120433 DO:DOID:0111249 MESH:D002971|MESH:D002972|MESH:D003103|MESH:D008607|MESH:D034381 C05.500.460.185/120433|C05.660.207.540.460.185/120433|C07.320.440.185/120433|C07.465.409.225/120433|C07.465.525.164/120433|C07.465.525.185/120433|C07.650.500.460.185/120433|C07.650.525.164/120433|C07.650.525.185/120433|C09.218.458.341/120433|C10.597.606.360/120433|C10.597.751.418.341/120433|C11.250.110/120433|C11.270.147/120433|C16.131.384.282/120433|C16.131.621.207.540.460.185/120433|C16.131.850.500.460.185/120433|C16.131.850.525.164/120433|C16.131.850.525.185/120433|C23.888.592.604.646/120433|C23.888.592.763.393.341/120433|F03.625.539/120433 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C09.218.458.341|C10.597.606.360|C10.597.751.418.341|C11.250.110|C11.270.147|C16.131.384.282|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C23.888.592.604.646|C23.888.592.763.393.341|F03.625.539 COB1|COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION Congenital abnormality|Ear-nose-throat disease|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Coloboma of Alar-nasal cartilages with telecanthus MESH:C535967 MESH:D003103|MESH:D010009|MESH:D016569 C05.116.099.708/C535967|C11.250.090/C535967|C11.250.110/C535967|C11.270.147/C535967|C11.338.190/C535967|C16.131.384.190/C535967|C16.131.384.282/C535967|C16.320.728/C535967 C05.116.099.708|C11.250.090|C11.250.110|C11.270.147|C11.338.190|C16.131.384.190|C16.131.384.282|C16.320.728 Alar-Nasal Cartilages, Coloboma Of, With Telecanthus|Frontonasal dysplasia with alar clefts Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease Coloboma of Macula and Skeletal Anomalies MESH:C565686 MESH:D002972|MESH:D003103|MESH:D059327 C05.500.460.185/C565686|C05.660.207.540.460.185/C565686|C05.660.585.262/C565686|C07.320.440.185/C565686|C07.465.525.185/C565686|C07.650.500.460.185/C565686|C07.650.525.185/C565686|C11.250.110/C565686|C11.270.147/C565686|C16.131.384.282/C565686|C16.131.621.207.540.460.185/C565686|C16.131.621.585.262/C565686|C16.131.850.500.460.185/C565686|C16.131.850.525.185/C565686 C05.500.460.185|C05.660.207.540.460.185|C05.660.585.262|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C11.250.110|C11.270.147|C16.131.384.282|C16.131.621.207.540.460.185|C16.131.621.585.262|C16.131.850.500.460.185|C16.131.850.525.185 Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Coloboma of macula type B brachydactyly MESH:C535969 MESH:D003103|MESH:D059327 C05.660.585.262/C535969|C11.250.110/C535969|C11.270.147/C535969|C16.131.384.282/C535969|C16.131.621.585.262/C535969 C05.660.585.262|C11.250.110|C11.270.147|C16.131.384.282|C16.131.621.585.262 Coloboma Of Macula With Type B Brachydactyly|Sorsby syndrome Congenital abnormality|Eye disease|Musculoskeletal disease Coloboma of optic nerve MESH:C535970 DO:DOID:11975|OMIM:120430 MESH:D003103 C11.250.110/C535970|C11.270.147/C535970|C16.131.384.282/C535970 C11.250.110|C11.270.147|C16.131.384.282 Congenital coloboma of the optic nerve|MORNING GLORY DISC ANOMALY, INCLUDED|Optic nerve coloboma|Optic nerve head pits, bilateral congenital|OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL, INCLUDED Congenital abnormality|Eye disease COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS OMIM:617306 MESH:D000417|MESH:D003103|MESH:D003638|MESH:D008850|MESH:D010022|MESH:D058627 C05.116.099.708.702.678/617306|C05.660.207.536/617306|C09.218.458.341.186/617306|C10.500.507.400.249/617306|C10.597.751.418.341.186/617306|C11.250.110/617306|C11.250.566/617306|C11.270.040/617306|C11.270.147/617306|C16.131.384.282/617306|C16.131.384.666/617306|C16.131.621.207.532/617306|C16.131.666.507.400.249/617306|C16.320.290.040/617306|C16.320.565.100.102/617306|C16.320.850.080/617306|C17.800.621.440.102/617306|C17.800.827.080/617306|C18.452.648.100.102/617306|C23.888.592.763.393.341.186/617306 C05.116.099.708.702.678|C05.660.207.536|C09.218.458.341.186|C10.500.507.400.249|C10.597.751.418.341.186|C11.250.110|C11.250.566|C11.270.040|C11.270.147|C16.131.384.282|C16.131.384.666|C16.131.621.207.532|C16.131.666.507.400.249|C16.320.290.040|C16.320.565.100.102|C16.320.850.080|C17.800.621.440.102|C17.800.827.080|C18.452.648.100.102|C23.888.592.763.393.341.186 COMMAD Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation MESH:C565173 MESH:D002971|MESH:D002972|MESH:D003103|MESH:D008607 C05.500.460.185/C565173|C05.660.207.540.460.185/C565173|C07.320.440.185/C565173|C07.465.409.225/C565173|C07.465.525.164/C565173|C07.465.525.185/C565173|C07.650.500.460.185/C565173|C07.650.525.164/C565173|C07.650.525.185/C565173|C10.597.606.360/C565173|C11.250.110/C565173|C11.270.147/C565173|C16.131.384.282/C565173|C16.131.621.207.540.460.185/C565173|C16.131.850.500.460.185/C565173|C16.131.850.525.164/C565173|C16.131.850.525.185/C565173|C23.888.592.604.646/C565173|F03.625.539/C565173 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C10.597.606.360|C11.250.110|C11.270.147|C16.131.384.282|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Colonic Atresia MESH:C562562 MESH:D007409 C06.198.719/C562562|C06.405.469.445/C562562|C16.131.314.466/C562562 C06.198.719|C06.405.469.445|C16.131.314.466 Congenital abnormality|Digestive system disease Colonic Diseases MESH:D003108 DO:DOID:5353 Pathological processes in the COLON region of the large intestine (INTESTINE, LARGE). MESH:D007410 C06.405.469.158 C06.405.469 Colonic Disease|Disease, Colonic|Diseases, Colonic Digestive system disease Colonic Diseases, Functional MESH:D003109 DO:DOID:3877 Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized IRRITABLE BOWEL SYNDROME falls into this category. MESH:D003108 C06.405.469.158.272 C06.405.469.158 Colonic Disease, Functional|Disease, Functional Colonic|Diseases, Functional Colonic|Functional Colonic Disease|Functional Colonic Diseases Digestive system disease Colonic Neoplasms MESH:D003110 DO:DOID:219|DO:DOID:234|DO:DOID:235 Tumors or cancer of the COLON. MESH:D015179 C04.588.274.476.411.307.180|C06.301.371.411.307.180|C06.405.249.411.307.180|C06.405.469.158.356.180|C06.405.469.491.307.180 C04.588.274.476.411.307|C06.301.371.411.307|C06.405.249.411.307|C06.405.469.158.356|C06.405.469.491.307 Adenocarcinoma, Colon|Adenocarcinomas, Colon|Cancer, Colon|Cancer, Colonic|Cancer of Colon|Cancer of the Colon|Cancers, Colon|Cancers, Colonic|Colon Adenocarcinoma|Colon Adenocarcinomas|Colon Cancer|Colon Cancers|Colonic Cancer|Colonic Cancers|Colonic Neoplasm|Colon Neoplasm|Colon Neoplasms|Neoplasm, Colon|Neoplasm, Colonic|Neoplasms, Colon|Neoplasms, Colonic Cancer|Digestive system disease Colonic Polyps MESH:D003111 Discrete tissue masses that protrude into the lumen of the COLON. These POLYPS are connected to the wall of the colon either by a stalk, pedunculus, or by a broad base. MESH:D007417 C23.300.825.411.235 C23.300.825.411 Colonic Polyp|Polyp, Colonic|Polyps, Colonic Pathology (anatomical condition) Colonic Pseudo-Obstruction MESH:D003112 DO:DOID:3876 Functional obstruction of the COLON leading to MEGACOLON in the absence of obvious COLONIC DISEASES or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome. MESH:D003109|MESH:D007418 C06.405.469.158.272.217|C06.405.469.531.492.500.217 C06.405.469.158.272|C06.405.469.531.492.500 Colonic Pseudoobstruction|Colonic Pseudo Obstruction|Ogilvie Disease|Ogilvie's Syndrome|Ogilvie Syndrome|Pseudoobstruction, Colonic|Pseudo-Obstruction, Colonic|Syndrome, Ogilvie Digestive system disease Colonic Varices without Portal Hypertension MESH:C565172 MESH:D014648 C14.907.927/C565172 C14.907.927 Cardiovascular disease Colorado Tick Fever MESH:D003121 DO:DOID:4885 A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the COLORADO TICK FEVER VIRUS, a reovirus transmitted by the tick Dermacentor andersoni. MESH:D001102|MESH:D012088|MESH:D017282 C01.920.930.200|C01.925.081.234|C01.925.782.791.482 C01.920.930|C01.925.081|C01.925.782.791 Fever, Colorado Tick|Tick Fever, Colorado Viral disease COLORBLINDNESS, PARTIAL, DEUTAN SERIES OMIM:303800 DO:DOID:13909 MESH:D003117 C10.597.751.941.256/303800|C11.270.151.500/303800|C11.966.256/303800|C23.888.592.763.941.256/303800 C10.597.751.941.256|C11.270.151.500|C11.966.256|C23.888.592.763.941.256 CBD|DCB|DEUTAN COLORBLINDNESS|DEUTERANOPIA|GREEN COLORBLINDNESS DEUTERANOMALY, INCLUDED Eye disease|Nervous system disease|Signs and symptoms COLORBLINDNESS, PARTIAL, PROTAN SERIES OMIM:303900 DO:DOID:13910 MESH:D003117 C10.597.751.941.256/303900|C11.270.151.500/303900|C11.966.256/303900|C23.888.592.763.941.256/303900 C10.597.751.941.256|C11.270.151.500|C11.966.256|C23.888.592.763.941.256 CBP|PROTANOPIA|RED COLORBLINDNESS PROTANOMALY, INCLUDED Eye disease|Nervous system disease|Signs and symptoms Colorblindness, Partial Tritanomaly MESH:C564440 MESH:D003117 C10.597.751.941.256/C564440|C11.270.151.500/C564440|C11.966.256/C564440|C23.888.592.763.941.256/C564440 C10.597.751.941.256|C11.270.151.500|C11.966.256|C23.888.592.763.941.256 Tritanomalous Colorblindness Eye disease|Nervous system disease|Signs and symptoms Colorectal Adenomatous Polyposis, Autosomal Recessive MESH:C563924 OMIM:608456 MESH:D011125 C04.557.470.035.215.100/C563924|C04.588.274.476.411.307.089/C563924|C04.700.100/C563924|C06.301.371.411.307.090/C563924|C06.405.249.411.307.090/C563924|C06.405.469.158.356.090/C563924|C06.405.469.491.307.090/C563924|C06.405.469.578.249/C563924|C16.320.700.100/C563924 C04.557.470.035.215.100|C04.588.274.476.411.307.089|C04.700.100|C06.301.371.411.307.090|C06.405.249.411.307.090|C06.405.469.158.356.090|C06.405.469.491.307.090|C06.405.469.578.249|C16.320.700.100 Adenomas, Multiple Colorectal, Autosomal Recessive|COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE|FAMILIAL ADENOMATOUS POLYPOSIS 2|FAP2 Cancer|Digestive system disease|Genetic disease (inborn) Colorectal Cancer, Hereditary Nonpolyposis, Type 3 MESH:C563972 MESH:D003123 C04.588.274.476.411.307.190/C563972|C04.700.250/C563972|C06.301.371.411.307.190/C563972|C06.405.249.411.307.190/C563972|C06.405.469.158.356.190/C563972|C06.405.469.491.307.190/C563972|C16.320.700.250/C563972|C18.452.284.255/C563972 C04.588.274.476.411.307.190|C04.700.250|C06.301.371.411.307.190|C06.405.249.411.307.190|C06.405.469.158.356.190|C06.405.469.491.307.190|C16.320.700.250|C18.452.284.255 HNPCC3 Cancer|Digestive system disease|Genetic disease (inborn)|Metabolic disease Colorectal Cancer, Hereditary Nonpolyposis, Type 4 MESH:C563971 OMIM:614337 MESH:D003123 C04.588.274.476.411.307.190/C563971|C04.700.250/C563971|C06.301.371.411.307.190/C563971|C06.405.249.411.307.190/C563971|C06.405.469.158.356.190/C563971|C06.405.469.491.307.190/C563971|C16.320.700.250/C563971|C18.452.284.255/C563971 C04.588.274.476.411.307.190|C04.700.250|C06.301.371.411.307.190|C06.405.249.411.307.190|C06.405.469.158.356.190|C06.405.469.491.307.190|C16.320.700.250|C18.452.284.255 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4|HNPCC4|LYNCH4|LYNCH SYNDROME 4 Cancer|Digestive system disease|Genetic disease (inborn)|Metabolic disease Colorectal Cancer, Hereditary Nonpolyposis, Type 5 MESH:C563456 OMIM:614350 MESH:D003123 C04.588.274.476.411.307.190/C563456|C04.700.250/C563456|C06.301.371.411.307.190/C563456|C06.405.249.411.307.190/C563456|C06.405.469.158.356.190/C563456|C06.405.469.491.307.190/C563456|C16.320.700.250/C563456|C18.452.284.255/C563456 C04.588.274.476.411.307.190|C04.700.250|C06.301.371.411.307.190|C06.405.249.411.307.190|C06.405.469.158.356.190|C06.405.469.491.307.190|C16.320.700.250|C18.452.284.255 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5|HNPCC5|LYNCH5|LYNCH SYNDROME 5 Cancer|Digestive system disease|Genetic disease (inborn)|Metabolic disease Colorectal Cancer, Hereditary Nonpolyposis, Type 6 MESH:C566039 OMIM:614331 MESH:D003123 C04.588.274.476.411.307.190/C566039|C04.700.250/C566039|C06.301.371.411.307.190/C566039|C06.405.249.411.307.190/C566039|C06.405.469.158.356.190/C566039|C06.405.469.491.307.190/C566039|C16.320.700.250/C566039|C18.452.284.255/C566039 C04.588.274.476.411.307.190|C04.700.250|C06.301.371.411.307.190|C06.405.249.411.307.190|C06.405.469.158.356.190|C06.405.469.491.307.190|C16.320.700.250|C18.452.284.255 Colon Cancer, Hereditary Nonpolyposis, Type 6|HNPCC6 Cancer|Digestive system disease|Genetic disease (inborn)|Metabolic disease Colorectal Cancer, Hereditary Nonpolyposis, Type 7 MESH:C565777 OMIM:614385 MESH:D003123 C04.588.274.476.411.307.190/C565777|C04.700.250/C565777|C06.301.371.411.307.190/C565777|C06.405.249.411.307.190/C565777|C06.405.469.158.356.190/C565777|C06.405.469.491.307.190/C565777|C16.320.700.250/C565777|C18.452.284.255/C565777 C04.588.274.476.411.307.190|C04.700.250|C06.301.371.411.307.190|C06.405.249.411.307.190|C06.405.469.158.356.190|C06.405.469.491.307.190|C16.320.700.250|C18.452.284.255 HNPCC7 Cancer|Digestive system disease|Genetic disease (inborn)|Metabolic disease Colorectal Cancer, Hereditary Nonpolyposis, Type 8 MESH:C567685 OMIM:613244 MESH:D003123 C04.588.274.476.411.307.190/C567685|C04.700.250/C567685|C06.301.371.411.307.190/C567685|C06.405.249.411.307.190/C567685|C06.405.469.158.356.190/C567685|C06.405.469.491.307.190/C567685|C16.320.700.250/C567685|C18.452.284.255/C567685 C04.588.274.476.411.307.190|C04.700.250|C06.301.371.411.307.190|C06.405.249.411.307.190|C06.405.469.158.356.190|C06.405.469.491.307.190|C16.320.700.250|C18.452.284.255 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8|HNPCC8|LYNCH8|LYNCH SYNDROME 8 Cancer|Digestive system disease|Genetic disease (inborn)|Metabolic disease Colorectal Neoplasms MESH:D015179 DO:DOID:0080199|DO:DOID:9256|OMIM:114500|OMIM:608812|OMIM:611469|OMIM:612229|OMIM:612230|OMIM:612231|OMIM:612232|OMIM:612589|OMIM:612590|OMIM:612591|OMIM:612592|OMIM:615083 Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI. MESH:D003108|MESH:D007414|MESH:D012002 C04.588.274.476.411.307|C06.301.371.411.307|C06.405.249.411.307|C06.405.469.158.356|C06.405.469.491.307|C06.405.469.860.180 C04.588.274.476.411|C06.301.371.411|C06.405.249.411|C06.405.469.158|C06.405.469.491|C06.405.469.860 Cancer, Colorectal|Cancers, Colorectal|Carcinoma, Colorectal|Carcinomas, Colorectal|COLON CANCER|COLORECTAL ADENOMA AND CANCER, SUSCEPTIBILITY TO|Colorectal Cancer|Colorectal Cancers|COLORECTAL CANCER, SUSCEPTIBILITY TO, 1|COLORECTAL CANCER, SUSCEPTIBILITY TO, 10|COLORECTAL CANCER, SUSCEPTIBILITY TO, 11|COLORECTAL CANCER, SUSCEPTIBILITY TO, 12|COLORECTAL CANCER, SUSCEPTIBILITY TO, 2|COLORECTAL CANCER, SUSCEPTIBILITY TO, 3|COLORECTAL CANCER, SUSCEPTIBILITY TO, 5|COLORECTAL CANCER, SUSCEPTIBILITY TO, 6|COLORECTAL CANCER, SUSCEPTIBILITY TO, 7|COLORECTAL CANCER, SUSCEPTIBILITY TO, 8|COLORECTAL CANCER, SUSCEPTIBILITY TO, 9|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 10|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 11|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 14q|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 16q|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 18|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 20p|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 8q23|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 8q24|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9|Colorectal Carcinoma|Colorectal Carcinomas|Colorectal Neoplasm|Colorectal Tumor|Colorectal Tumors|CRC|CRCS1|CRCS10|CRCS11|CRCS12|CRCS2|CRCS3|CRCS5|CRCS6|CRCS7|CRCS8|CRCS9|Neoplasm, Colorectal|Neoplasms, Colorectal|Tumor, Colorectal|Tumors, Colorectal Cancer|Digestive system disease Colorectal Neoplasms, Hereditary Nonpolyposis MESH:D003123 DO:DOID:3883 A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer. MESH:D009386|MESH:D015179|MESH:D049914 C04.588.274.476.411.307.190|C04.700.250|C06.301.371.411.307.190|C06.405.249.411.307.190|C06.405.469.158.356.190|C06.405.469.491.307.190|C16.320.700.250|C18.452.284.255 C04.588.274.476.411.307|C04.700|C06.301.371.411.307|C06.405.249.411.307|C06.405.469.158.356|C06.405.469.491.307|C16.320.700|C18.452.284 Colon Cancer, Familial Nonpolyposis|Colon Cancer, Familial Nonpolyposis, Type 1|Colorectal Cancer Hereditary Nonpolyposis|Colorectal Cancer, Hereditary Nonpolyposis, Type 1|Familial Nonpolyposis Colon Cancer|Familial Nonpolyposis Colon Cancer Type 1|Hereditary Nonpolyposis Colon Cancer|Hereditary Nonpolyposis Colorectal Cancer|Hereditary Nonpolyposis Colorectal Cancer Type 1|Hereditary Nonpolyposis Colorectal Neoplasms|Lynch Cancer Family Syndrome I|Lynch Syndrome|Lynch Syndrome I|Syndrome, Lynch Cancer|Digestive system disease|Genetic disease (inborn)|Metabolic disease Color Vision Defects MESH:D003117 DO:DOID:11661|DO:DOID:13399|DO:DOID:13909|DO:DOID:13910|DO:DOID:13911|DO:DOID:13912 Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue. MESH:D000077765|MESH:D014786 C10.597.751.941.256|C11.270.151.500|C11.966.256|C23.888.592.763.941.256 C10.597.751.941|C11.270.151|C11.966|C23.888.592.763.941 Achromatopsia|Achromatopsias|Acquired Color Blindness|Blindness, Color|Blue Color Blindness|Color Blindness|Color Blindness, Acquired|Color Blindness, Blue|Color Blindness, Green|Color Blindness, Inherited|Color Blindness, Red|Color Blindness, Red Green|Color Blindness, Red-Green|Color Vision Defect|Color Vision Deficiencies|Color Vision Deficiency|Defect, Color Vision|Defect, Deutan|Defects, Color Vision|Deficiencies, Color Vision|Deficiency, Color Vision|Deutan Defect|Green Color Blindness|Inherited Color Blindness|Monochromatopsia|Protan Defect|Red Color Blindness|Red-Green Color Blindness|Tritan Defect|Vision Defect, Color|Vision Defects, Color|Vision Deficiencies, Color|Vision Deficiency, Color Eye disease|Nervous system disease|Signs and symptoms Colpocephaly MESH:C535973 MESH:D001927 C10.228.140/C535973 C10.228.140 Nervous system disease Coma MESH:D003128 A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION. MESH:D014474 C10.597.606.358.800.200|C23.888.592.604.359.800.200 C10.597.606.358.800|C23.888.592.604.359.800 Comas|Comatose|Pseudocoma|Pseudocomas Nervous system disease|Signs and symptoms Coma, Post-Head Injury MESH:D020207 Prolonged unconsciousness from which the individual cannot be aroused, associated with traumatic injuries to the BRAIN. This may be defined as unconsciousness persisting for 6 hours or longer. Coma results from injury to both cerebral hemispheres or the RETICULAR FORMATION of the BRAIN STEM. Contributing mechanisms include DIFFUSE AXONAL INJURY and BRAIN EDEMA. (From J Neurotrauma 1997 Oct;14(10):699-713) MESH:D003128|MESH:D006259 C10.597.606.358.800.200.200|C10.900.300.175|C26.915.300.350 C10.597.606.358.800.200|C10.900.300|C26.915.300 Coma, Post Concussive|Coma, Post-Concussive|Coma, Post Head Injury|Coma, Post Trauma|Coma, Post-Trauma|Coma, Post Traumatic|Coma, Post-Traumatic|Coma, Post-Traumatic, Prolonged|Comas, Post-Concussive|Comas, Post-Head Injury|Comas, Post-Trauma|Coma, Traumatic|Post-Concussive Coma|Post-Concussive Comas|Post Head Injury Coma|Post-Head Injury Coma|Post-Head Injury Comas|Post-Trauma Coma|Post-Trauma Comas|Post-Traumatic Coma|Traumatic Coma Nervous system disease|Wounds and injuries Combat Disorders MESH:D003130 DO:DOID:6950 Neurotic reactions to unusual, severe, or overwhelming military stress. MESH:D040921 F03.950.750.249 F03.950.750 Combat Disorder|Combat Neuroses|Combat Neurosis|Combat Stress Disorder|Combat Stress Disorders|Disorder, Combat|Disorder, Combat Stress|Disorders, Combat|Disorders, Combat Stress|Neuroses, Combat|Neuroses, War|Neurosis, Combat|Neurosis, War|Shell Shock|Shell Shocks|Shock, Shell|Shocks, Shell|Stress Disorder, Combat|Stress Disorders, Combat|War Neuroses|War Neurosis Mental disorder Combined Cellular And Humoral Immune Defects With Granulomas MESH:C567115 DO:DOID:0112253|OMIM:233650 MESH:D006105|MESH:D016511 C15.378.553.774.535/C567115|C16.320.322.233/C567115|C16.320.798.750/C567115|C16.614.815/C567115|C18.452.284.800/C567115|C20.673.774.535/C567115|C20.673.795.750/C567115|C23.550.291.500.423/C567115 C15.378.553.774.535|C16.320.322.233|C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.774.535|C20.673.795.750|C23.550.291.500.423 CCHIDG Blood disease|Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease|Pathology (process) Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia MESH:C564307 OMIM:607944 MESH:D001327|MESH:D007153|MESH:D010009 C05.116.099.708/C564307|C16.320.728/C564307|C20.111/C564307|C20.673/C564307 C05.116.099.708|C16.320.728|C20.111|C20.673 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA|ROIFMAN IMMUNOSKELETAL SYNDROME|SPENCD|SPENCDI|Spondyloenchondrodysplasia with Immune Dysregulation Genetic disease (inborn)|Immune system disease|Musculoskeletal disease Combined Inflammatory and Immunologic Defect MESH:C565684 MESH:D007153 C20.673/C565684 C20.673 Immune system disease Combined Malonic and Methylmalonic Aciduria MESH:C580002 DO:DOID:0111263|OMIM:614265 MESH:D008661 C16.320.565/C580002|C18.452.648/C580002 C16.320.565|C18.452.648 Cmamma Genetic disease (inborn)|Metabolic disease Combined Oxidative Phosphorylation Deficiency 1 MESH:C563797 DO:DOID:0111474|OMIM:609060 MESH:D006501|MESH:D008661 C06.552.308.500.356/C563797|C10.228.140.163.360/C563797|C16.320.565/C563797|C18.452.132.360/C563797|C18.452.648/C563797 C06.552.308.500.356|C10.228.140.163.360|C16.320.565|C18.452.132.360|C18.452.648 COXPD1|Hepatoencephalopathy, Early Fatal Progressive Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 OMIM:614702 DO:DOID:0111480 MESH:D008661 C16.320.565/614702|C18.452.648/614702 C16.320.565|C18.452.648 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS|COXPD10 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 OMIM:614922 DO:DOID:0111481 MESH:D008661 C16.320.565/614922|C18.452.648/614922 C16.320.565|C18.452.648 COXPD11|ENCEPHALONEUROMYOPATHY, INFANTILE, DUE TO MITOCHONDRIAL TRANSLATION DEFECT Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 OMIM:614924 DO:DOID:0111493 MESH:D008661 C16.320.565/614924|C18.452.648/614924 C16.320.565|C18.452.648 COXPD12|LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE|LTBL Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 OMIM:614932 DO:DOID:0111467 MESH:D008661 C16.320.565/614932|C18.452.648/614932 C16.320.565|C18.452.648 COXPD13 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 OMIM:614946 DO:DOID:0111477 MESH:D008661 C16.320.565/614946|C18.452.648/614946 C16.320.565|C18.452.648 COXPD14 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 OMIM:614947 DO:DOID:0111491 MESH:D008661 C16.320.565/614947|C18.452.648/614947 C16.320.565|C18.452.648 COXPD15 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 OMIM:615395 DO:DOID:0111469 MESH:D008661 C16.320.565/615395|C18.452.648/615395 C16.320.565|C18.452.648 COXPD16 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 OMIM:615440 DO:DOID:0111496 MESH:D008661 C16.320.565/615440|C18.452.648/615440 C16.320.565|C18.452.648 COXPD17 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 OMIM:615578 DO:DOID:0111484 MESH:D008661 C16.320.565/615578|C18.452.648/615578 C16.320.565|C18.452.648 COXPD18 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 OMIM:615595 DO:DOID:0111476 MESH:D008661 C16.320.565/615595|C18.452.648/615595 C16.320.565|C18.452.648 COXPD19 Genetic disease (inborn)|Metabolic disease Combined Oxidative Phosphorylation Deficiency 2 MESH:C566468 DO:DOID:0111483|OMIM:610498 MESH:D000140|MESH:D019465|MESH:D061085 C05.660.207/C566468|C10.500.034/C566468|C16.131.621.207/C566468|C16.131.666.034/C566468|C18.452.076.176.180/C566468|C23.300.008/C566468 C05.660.207|C10.500.034|C16.131.621.207|C16.131.666.034|C18.452.076.176.180|C23.300.008 Corpus Callosum, Agenesis Of, With Dysmorphism And Fatal Lactic Acidosis|COXPD2 Congenital abnormality|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 OMIM:615917 DO:DOID:0111478 MESH:D008661 C16.320.565/615917|C18.452.648/615917 C16.320.565|C18.452.648 COXPD20 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 OMIM:615918 DO:DOID:0111465 MESH:D008661 C16.320.565/615918|C18.452.648/615918 C16.320.565|C18.452.648 COXPD21 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 OMIM:616045 DO:DOID:0111498 MESH:D008661 C16.320.565/616045|C18.452.648/616045 C16.320.565|C18.452.648 COXPD22 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 OMIM:616198 DO:DOID:0111500 MESH:D008661 C16.320.565/616198|C18.452.648/616198 C16.320.565|C18.452.648 COXPD23 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 OMIM:616239 DO:DOID:0111485 MESH:D008661 C16.320.565/616239|C18.452.648/616239 C16.320.565|C18.452.648 COXPD24 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 OMIM:616430 DO:DOID:0111468 MESH:D008661 C16.320.565/616430|C18.452.648/616430 C16.320.565|C18.452.648 COXPD25 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 OMIM:616672 DO:DOID:0111489 MESH:D008661 C16.320.565/616672|C18.452.648/616672 C16.320.565|C18.452.648 COXPD27 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 OMIM:616794 DO:DOID:0111470 MESH:D008661 C16.320.565/616794|C18.452.648/616794 C16.320.565|C18.452.648 COXPD28 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 OMIM:616811 DO:DOID:0111501 MESH:D008661 C16.320.565/616811|C18.452.648/616811 C16.320.565|C18.452.648 COXPD29 Genetic disease (inborn)|Metabolic disease Combined Oxidative Phosphorylation Deficiency 3 MESH:C566467 DO:DOID:0111486|OMIM:610505 MESH:D000140|MESH:D009123|MESH:D017240 C05.651.460/C566467|C10.597.613.575/C566467|C10.668.491.500/C566467|C18.452.076.176.180/C566467|C18.452.660.560/C566467|C23.888.592.608.575/C566467 C05.651.460|C10.597.613.575|C10.668.491.500|C18.452.076.176.180|C18.452.660.560|C23.888.592.608.575 Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis|COXPD3|Encephalomyopathy, Respiratory Failure, And Lactic Acidosis Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 OMIM:616974 DO:DOID:0111471 MESH:D008661 C16.320.565/616974|C18.452.648/616974 C16.320.565|C18.452.648 COXPD30 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 OMIM:617228 DO:DOID:0111488 MESH:D008661 C16.320.565/617228|C18.452.648/617228 C16.320.565|C18.452.648 COXPD31 Genetic disease (inborn)|Metabolic disease Combined Oxidative Phosphorylation Deficiency 4 MESH:C565690 DO:DOID:0111494|OMIM:610678 MESH:D000140|MESH:D008661|MESH:D028361 C16.320.565/C565690|C18.452.076.176.180/C565690|C18.452.648/C565690|C18.452.660/C565690 C16.320.565|C18.452.076.176.180|C18.452.648|C18.452.660 COXPD4 Genetic disease (inborn)|Metabolic disease Combined Oxidative Phosphorylation Deficiency 5 MESH:C567126 DO:DOID:0111473|OMIM:611719 MESH:D008661|MESH:D028361 C16.320.565/C567126|C18.452.648/C567126|C18.452.660/C567126 C16.320.565|C18.452.648|C18.452.660 COXPD5 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 OMIM:300816 DO:DOID:0111502 MESH:D017237 C05.651.460.620/300816|C10.228.140.163.540/300816|C10.668.491.500.500/300816|C18.452.132.540/300816|C18.452.660.560.620/300816 C05.651.460.620|C10.228.140.163.540|C10.668.491.500.500|C18.452.132.540|C18.452.660.560.620 COXPD6|ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED Metabolic disease|Musculoskeletal disease|Nervous system disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 OMIM:613559 DO:DOID:0111487 MESH:D017237 C05.651.460.620/613559|C10.228.140.163.540/613559|C10.668.491.500.500/613559|C18.452.132.540/613559|C18.452.660.560.620/613559 C05.651.460.620|C10.228.140.163.540|C10.668.491.500.500|C18.452.132.540|C18.452.660.560.620 COXPD7 Metabolic disease|Musculoskeletal disease|Nervous system disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 OMIM:614096 DO:DOID:0111479 MESH:D008661 C16.320.565/614096|C18.452.648/614096 C16.320.565|C18.452.648 CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE|COXPD8 Genetic disease (inborn)|Metabolic disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 OMIM:614582 DO:DOID:0111472 MESH:D008661 C16.320.565/614582|C18.452.648/614582 C16.320.565|C18.452.648 COXPD9 Genetic disease (inborn)|Metabolic disease Combined Pituitary Hormone Deficiency MESH:C580003 DO:DOID:9410|OMIM:613986 MESH:D007018 C10.228.140.617.738.300/C580003|C19.700.482/C580003 C10.228.140.617.738.300|C19.700.482 CPHD6|Panhypopituitarism|PITUITARY HORMONE DEFICIENCY, COMBINED, 6 Endocrine system disease|Nervous system disease Combined Saposin Deficiency MESH:C567125 DO:DOID:0111330|OMIM:611721 MESH:D007966 C10.228.140.163.100.362.550/C567125|C10.228.140.163.100.435.825.850.500/C567125|C10.228.140.695.625.550/C567125|C10.314.400.550/C567125|C16.320.565.189.362.550/C567125|C16.320.565.189.435.825.850.500/C567125|C16.320.565.398.641.803.925.500/C567125|C16.320.565.595.554.825.850.500/C567125|C18.452.132.100.362.550/C567125|C18.452.132.100.435.825.850.500/C567125|C18.452.584.563.641.803.925.500/C567125|C18.452.648.189.362.550/C567125|C18.452.648.189.435.825.850.500/C567125|C18.452.648.398.641.803.925.500/C567125|C18.452.648.595.554.825.850.500/C567125 C10.228.140.163.100.362.550|C10.228.140.163.100.435.825.850.500|C10.228.140.695.625.550|C10.314.400.550|C16.320.565.189.362.550|C16.320.565.189.435.825.850.500|C16.320.565.398.641.803.925.500|C16.320.565.595.554.825.850.500|C18.452.132.100.362.550|C18.452.132.100.435.825.850.500|C18.452.584.563.641.803.925.500|C18.452.648.189.362.550|C18.452.648.189.435.825.850.500|C18.452.648.398.641.803.925.500|C18.452.648.595.554.825.850.500 COMBINED SAP DEFICIENCY|Prosaposin Deficiency|PSAPD Genetic disease (inborn)|Metabolic disease|Nervous system disease Comedones, Familial Dyskeratotic MESH:C562838 MESH:D012868|MESH:D017444 C16.131.831/C562838|C17.800.804/C562838|C17.800.859/C562838 C16.131.831|C17.800.804|C17.800.859 Congenital abnormality|Skin disease Common Bile Duct Diseases MESH:D003137 DO:DOID:4137 Diseases of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI. MESH:D001649 C06.130.120.250 C06.130.120 Digestive system disease Common Bile Duct Neoplasms MESH:D003138 DO:DOID:4608 Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI. MESH:D001650|MESH:D003137 C04.588.274.120.250.250|C06.130.120.120.280|C06.130.120.250.280|C06.130.320.120.280|C06.301.120.250.250 C04.588.274.120.250|C06.130.120.120|C06.130.120.250|C06.130.320.120|C06.301.120.250 Cancer|Digestive system disease Common Cold MESH:D003139 DO:DOID:10459 A catarrhal disorder of the upper respiratory tract, which may be viral or a mixed infection. It generally involves a runny nose, nasal congestion, and sneezing. MESH:D010850|MESH:D012141 C01.748.162|C01.925.782.687.207|C08.730.162 C01.748|C01.925.782.687|C08.730 Acute Coryza|Catarrh|Catarrhs|Cold, Common|Colds, Common|Common Colds|Coryza, Acute Respiratory tract disease|Viral disease Common Variable Immunodeficiency MESH:D017074 DO:DOID:12177|OMIM:240500|OMIM:607594|OMIM:613493|OMIM:613494|OMIM:613495|OMIM:613496|OMIM:614699|OMIM:615577|OMIM:615767|OMIM:616576|OMIM:616873 Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections. MESH:D007153 C20.673.330 C20.673 Acquired Hypogammaglobulinemia|Acquired Hypogammaglobulinemias|ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT|ANTIBODY DEFICIENCY DUE TO CD19 DEFECT|ANTIBODY DEFICIENCY DUE TO CD20 DEFECT|ANTIBODY DEFICIENCY DUE TO CD81 DEFECT|ANTIBODY DEFICIENCY DUE TO ICOS DEFECT IMMUNODEFICIENCY, COMMON VARIABLE, INCLUDED|ANTIBODY DEFICIENCY DUE TO TACI DEFECT|Common Variable Hypogammaglobulinemia|Common Variable Hypogammaglobulinemias|Common Variable Immune Deficiency|Common Variable Immunodeficiencies|CVID1|CVID10|CVID11|CVID12|CVID13|CVID2|CVID3|CVID4|CVID5|CVID6|CVID7|CVID, INCLUDED|DAVID|Deficiencies, Late-Onset Immunoglobulin|Deficiency, Late-Onset Immunoglobulin|DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY|Hypogammaglobulinemia, Acquired|Hypogammaglobulinemia, Common Variable|HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY|Hypogammaglobulinemias, Acquired|Hypogammaglobulinemias, Common Variable|IL21 DEFICIENCY|Immunodeficiencies, Common Variable|Immunodeficiency, Common Variable|IMMUNODEFICIENCY, COMMON VARIABLE, 1|IMMUNODEFICIENCY, COMMON VARIABLE, 10|IMMUNODEFICIENCY, COMMON VARIABLE, 11|IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY|IMMUNODEFICIENCY, COMMON VARIABLE, 13|IMMUNODEFICIENCY, COMMON VARIABLE, 2|IMMUNODEFICIENCY, COMMON VARIABLE, 3|IMMUNODEFICIENCY, COMMON VARIABLE, 4|IMMUNODEFICIENCY, COMMON VARIABLE, 5|IMMUNODEFICIENCY, COMMON VARIABLE, 6|IMMUNODEFICIENCY, COMMON VARIABLE, 7|IMMUNODEFICIENCY, COMMON VARIABLE, WITH CENTRAL ADRENAL INSUFFICIENCY|Immunoglobulin Deficiencies, Late-Onset|Immunoglobulin Deficiency, Late Onset|Immunoglobulin Deficiency, Late-Onset|Late-Onset Immunoglobulin Deficiencies|Late-Onset Immunoglobulin Deficiency|NFKB1 DEFICIENCY|Variable Hypogammaglobulinemia, Common|Variable Hypogammaglobulinemias, Common Immune system disease Commotio Cordis MESH:D056104 A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation. MESH:D000071956|MESH:D001145 C14.280.067.441|C26.891.375.750.500|C26.974.250.875.500 C14.280.067|C26.891.375.750|C26.974.250.875 Cardiac Concussion|Cardiac Concussions|Concussion, Cardiac|Concussions, Cardiac Cardiovascular disease|Wounds and injuries Communicable Diseases MESH:D003141 An illness caused by an infectious agent or its toxins that occurs through the direct or indirect transmission of the infectious agent or its products from an infected individual or via an animal, vector or the inanimate environment to a susceptible animal or human host. MESH:D007239|MESH:D020969 C01.221|C23.550.291.531 C01|C23.550.291 Communicable Disease|Disease, Communicable|Disease, Infectious|Diseases, Communicable|Diseases, Infectious|Infectious Disease|Infectious Diseases Pathology (process) Communicable Diseases, Emerging MESH:D021821 Infectious diseases that are novel in their outbreak ranges (geographic and host) or transmission mode. MESH:D003141 C01.221.500|C23.550.291.531.750 C01.221|C23.550.291.531 Communicable Disease, Emerging|Communicable Disease, Reemerging|Communicable Disease, Re-Emerging|Communicable Diseases, Reemerging|Communicable Diseases, Re Emerging|Communicable Diseases, Re-Emerging|Disease, Emerging Communicable|Disease, Emerging Infectious|Disease, Reemerging Communicable|Disease, Re-Emerging Communicable|Disease, Reemerging Infectious|Disease, Re-Emerging Infectious|Diseases, Emerging Communicable|Diseases, Emerging Infectious|Diseases, Reemerging Communicable|Diseases, Re-Emerging Communicable|Diseases, Reemerging Infectious|Diseases, Re-Emerging Infectious|Emerging Communicable Disease|Emerging Communicable Diseases|Emerging Infectious Disease|Emerging Infectious Diseases|Infectious Disease, Emerging|Infectious Disease, Reemerging|Infectious Disease, Re-Emerging|Infectious Diseases, Emerging|Infectious Diseases, Reemerging|Infectious Diseases, Re Emerging|Infectious Diseases, Re-Emerging|Reemerging Communicable Disease|Re-Emerging Communicable Disease|Reemerging Communicable Diseases|Re-Emerging Communicable Diseases|Reemerging Infectious Disease|Re-Emerging Infectious Disease|Reemerging Infectious Diseases|Re-Emerging Infectious Diseases Pathology (process) Communicable Diseases, Imported MESH:D000076263 Infectious diseases originating in one geographically delineated ecosystem that are carried (by travel or immigration) to another geographically delineated ecosystem by an infected individual, animal, or disease vector. MESH:D003141 C01.221.625|C23.550.291.531.875 C01.221|C23.550.291.531 Communicable Disease, Imported|Disease, Imported Communicable|Disease, Imported Infectious|Disease, Infectious Imported|Diseases, Imported Communicable|Diseases, Imported Infectious|Diseases, Infectious Imported|Imported Communicable Disease|Imported Communicable Diseases|Imported Disease, Infectious|Imported Diseases, Infectious|Imported Infection|Imported Infections|Imported Infectious Disease|Imported Infectious Diseases|Infection, Imported|Infections, Imported|Infectious Disease, Imported|Infectious Diseases, Imported|Infectious Imported Disease|Infectious Imported Diseases Pathology (process) Communication Disorders MESH:D003147 DO:DOID:2033 Disorders of verbal and nonverbal communication caused by receptive or expressive LANGUAGE DISORDERS, cognitive dysfunction (e.g., MENTAL RETARDATION), psychiatric conditions, and HEARING DISORDERS. MESH:D019954|MESH:D065886 C10.597.606.150|C23.888.592.604.150|F03.625.374 C10.597.606|C23.888.592.604|F03.625 Acquired Communication Disorder|Acquired Communication Disorders|Childhood Communication Disorder|Childhood Communication Disorders|Communication Disabilities|Communication Disability|Communication Disorder|Communication Disorder, Acquired|Communication Disorder, Childhood|Communication Disorder, Developmental|Communication Disorder, Neurogenic|Communication Disorders, Acquired|Communication Disorders, Childhood|Communication Disorders, Developmental|Communication Disorders, Neurogenic|Communicative Disorder|Communicative Disorders|Communicative Dysfunction|Communicative Dysfunctions|Developmental Communication Disorder|Developmental Communication Disorders|Disabilities, Communication|Disability, Communication|Dysfunction, Communicative|Dysfunctions, Communicative|Neurogenic Communication Disorder|Neurogenic Communication Disorders Mental disorder|Nervous system disease|Signs and symptoms Community-Acquired Infections MESH:D017714 Any infection acquired in the community, that is, contrasted with those acquired in a health care facility (CROSS INFECTION). An infection would be classified as community-acquired if the patient had not recently been in a health care facility or been in contact with someone who had been recently in a health care facility. MESH:D007239 C01.234 C01 Acquired Infection, Community|Acquired Infections, Community|Community Acquired Infection|Community-Acquired Infection|Community Acquired Infections|Infection, Community Acquired|Infection, Community-Acquired|Infections, Community Acquired|Infections, Community-Acquired Compartment Syndromes MESH:D003161 DO:DOID:682 Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE. FASCIOTOMY is often used to decompress increased pressure and eliminate pain associated with compartment syndromes. MESH:D009135|MESH:D014652 C05.651.180|C14.907.303 C05.651|C14.907 Compartment Syndrome Cardiovascular disease|Musculoskeletal disease Compassion Fatigue MESH:D000068376 Emotional distress caused by repeated or prolonged expression of compassion or empathy. It may occur in individuals working in care giving professions. MESH:D005222 C23.888.369.500.500 C23.888.369.500 Fatigue, Compassion|Secondary Trauma|Secondary Traumas|Secondary Traumatic Stress|Secondary Traumatization|Secondary Traumatizations|Stresses, Secondary Traumatic|Stress, Secondary Traumatic|Trauma, Secondary|Traumas, Secondary|Traumas, Vicarious|Traumatic Stress, Secondary|Traumatization, Secondary|Traumatizations, Secondary|Traumatization, Vicarious|Trauma, Vicarious|Vicarious Trauma|Vicarious Traumas|Vicarious Traumatization Signs and symptoms COMPLEMENT COMPONENT 2 DEFICIENCY OMIM:217000 DO:DOID:0060295 MESH:D007153 C20.673/217000 C20.673 C2D|C2 DEFICIENCY Immune system disease Complement Component 3 Deficiency, Autosomal Recessive MESH:C565169 OMIM:613779 MESH:D000081208 C16.320.798.500/C565169|C20.673.795.500/C565169 C16.320.798.500|C20.673.795.500 C3D|C3 Deficiency, Autosomal Recessive Genetic disease (inborn)|Immune system disease Complement Component 4a Deficiency MESH:C565167 DO:DOID:0060297|OMIM:614380 MESH:D000081208 C16.320.798.500/C565167|C20.673.795.500/C565167 C16.320.798.500|C20.673.795.500 C4AD|C4A DEFICIENCY Genetic disease (inborn)|Immune system disease COMPLEMENT COMPONENT 4B DEFICIENCY OMIM:614379 DO:DOID:0060298 MESH:D007153 C20.673/614379 C20.673 C4BD|C4B DEFICIENCY Immune system disease Complement Component 4, Partial Deficiency Of MESH:C565168 OMIM:120790 MESH:D000081208 C16.320.798.500/C565168|C20.673.795.500/C565168 C16.320.798.500|C20.673.795.500 Genetic disease (inborn)|Immune system disease Complement component 5 deficiency MESH:C537005 DO:DOID:8158|OMIM:609536 MESH:D000081208 C16.320.798.500/C537005|C20.673.795.500/C537005 C16.320.798.500|C20.673.795.500 C5D|C5 DEFICIENCY|Dysfunction of the fifth component of complement (C5)|Leiner disease Genetic disease (inborn)|Immune system disease Complement Component 6 Deficiency MESH:C567307 DO:DOID:0060299|OMIM:612446 MESH:D000081208 C16.320.798.500/C567307|C20.673.795.500/C567307 C16.320.798.500|C20.673.795.500 C6D|C6 Deficiency|C6 DEFICIENCY COMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL, INCLUDED|C6 DEFICIENCY, SUBTOTAL, INCLUDED Genetic disease (inborn)|Immune system disease Complement Component 7 Deficiency MESH:C566443 DO:DOID:0060300|OMIM:610102 MESH:D000081208 C16.320.798.500/C566443|C20.673.795.500/C566443 C16.320.798.500|C20.673.795.500 C7D|C7 Deficiency Genetic disease (inborn)|Immune system disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I OMIM:613790 DO:DOID:0060301 MESH:D007105 C20.543.520/613790 C20.543.520 C8AG DEFICIENCY|C8 ALPHA-GAMMA DEFICIENCY|C8D1|C8 DEFICIENCY, TYPE I Immune system disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II OMIM:613789 DO:DOID:0060302 MESH:D007105 C20.543.520/613789 C20.543.520 C8B DEFICIENCY|C8 BETA DEFICIENCY|C8D2|C8 DEFICIENCY, TYPE II|COMPLEMENT COMPONENT 8B DEFICIENCY Immune system disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY OMIM:216950 MESH:D007153 C20.673/216950 C20.673 C1r/C1s DEFICIENCY Immune system disease Complement Component C1s Deficiency MESH:C565170 OMIM:613783 MESH:D000081208 C16.320.798.500/C565170|C20.673.795.500/C565170 C16.320.798.500|C20.673.795.500 C1SD|C1s Deficiency Genetic disease (inborn)|Immune system disease COMPLEMENT FACTOR B DEFICIENCY OMIM:615561 MESH:D007153 C20.673/615561 C20.673 CFBD Immune system disease Complement Factor D Deficiency MESH:C565027 OMIM:613912 MESH:D000081208|MESH:D015432 C12.050.351.968.419.570.363.615/C565027|C12.200.777.419.570.363.615/C565027|C12.950.419.570.363.615/C565027|C16.320.798.500/C565027|C20.425/C565027|C20.673.795.500/C565027 C12.050.351.968.419.570.363.615|C12.200.777.419.570.363.615|C12.950.419.570.363.615|C16.320.798.500|C20.425|C20.673.795.500 CFDD|Factor D Deficiency Genetic disease (inborn)|Immune system disease|Urogenital disease (female)|Urogenital disease (male) Complement Factor H Deficiency MESH:C562875 OMIM:609814 MESH:D000081208|MESH:D015432 C12.050.351.968.419.570.363.615/C562875|C12.200.777.419.570.363.615/C562875|C12.950.419.570.363.615/C562875|C16.320.798.500/C562875|C20.425/C562875|C20.673.795.500/C562875 C12.050.351.968.419.570.363.615|C12.200.777.419.570.363.615|C12.950.419.570.363.615|C16.320.798.500|C20.425|C20.673.795.500 C3G1|C3G1 C3 glomerulopathy 1|C3G-1 Complement 3 Glomerulopathy 1|C3 GLOMERULOPATHY 1|CFHD|CFH Deficiency|Factor H Deficiency|Glomerulonephritis With Isolated C3 Deposits And Factor H Deficiency|Membranoproliferative Glomerulonephritis, Type II, With Complement Factor H Deficiency|MPGN II with Complement Factor H Deficiency Genetic disease (inborn)|Immune system disease|Urogenital disease (female)|Urogenital disease (male) Complement Factor I Deficiency MESH:C572568 DO:DOID:0050419|OMIM:610984 MESH:D000081208 C16.320.798.500/C572568|C20.673.795.500/C572568 C16.320.798.500|C20.673.795.500 C3G2|C3G2 C3 glomerulopathy 2|C3 GLOMERULOPATHY 2|C3 Inactivator Deficiency|CFID|Complement Component 3 Inactivator Deficiency Genetic disease (inborn)|Immune system disease Complete atrioventricular septal defect MESH:C535974 MESH:D006343 C14.240.400.560/C535974|C14.280.400.560/C535974|C16.131.240.400.560/C535974 C14.240.400.560|C14.280.400.560|C16.131.240.400.560 Common atrioventricular canal|Complete atrioventricular canal Cardiovascular disease|Congenital abnormality Complex Regional Pain Syndromes MESH:D020918 DO:DOID:3223 Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33) MESH:D001342|MESH:D010523 C10.177.195|C10.668.829.250 C10.177|C10.668.829 Complex Regional Pain Syndrome|CRPS (Complex Regional Pain Syndromes)|Pain Syndromes, Regional Complex Nervous system disease Composite Lymphoma MESH:D058617 DO:DOID:5820 Two or more distinct types of malignant lymphoid tumors occurring within a single organ or tissue at the same time. It may contain different types of non-Hodgkin lymphoma cells or both Hodgkin and non-Hodgkin lymphoma cells. MESH:D008223|MESH:D018193 C04.557.386.150|C04.557.435.295|C15.604.515.569.150|C20.683.515.761.150 C04.557.386|C04.557.435|C15.604.515.569|C20.683.515.761 Composite Lymphomas|Lymphoma, Composite|Lymphomas, Composite Cancer|Immune system disease|Lymphatic disease Compulsive Personality Disorder MESH:D003193 DO:DOID:10932 Disorder characterized by an emotionally constricted manner that is unduly conventional, serious, formal, and stingy, by preoccupation with trivial details, rules, order, organization, schedules, and lists, by stubborn insistence on having things one's own way without regard for the effects on others, by poor interpersonal relationships, and by indecisiveness due to fear of making mistakes. MESH:D010554 F03.675.150 F03.675 Compulsive Personalities|Compulsive Personality|Compulsive Personality Disorders|Disorder, Compulsive Personality|Disorders, Compulsive Personality|Obsessive-Compulsive Personalities|Obsessive Compulsive Personality|Obsessive-Compulsive Personality|Personalities, Compulsive|Personalities, Obsessive-Compulsive|Personality, Compulsive|Personality Disorder, Compulsive|Personality Disorders, Compulsive|Personality, Obsessive-Compulsive Mental disorder Conduct Disorder MESH:D019955 DO:DOID:12995 A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994) MESH:D019958 F03.625.094.300 F03.625.094 Callous-Unemotional Trait|Callous Unemotional Traits|Callous-Unemotional Traits|Conduct Disorders Mental disorder Conducted Energy Weapon Injuries MESH:D057667 The injuries caused by conducted energy weapons such as stun guns, shock batons, and cattle prods. MESH:D004556 C26.324.436 C26.324 Injuries, Stun Gun|Injuries, TASER|Injury, Stun Gun|Injury, TASER|Stun Gun Injuries|Stun Gun Injury|TASER Injuries|TASER Injury Wounds and injuries Condylomata Acuminata MESH:D003218 DO:DOID:11168 Sexually transmitted form of anogenital warty growth caused by the human papillomaviruses. MESH:D014860|MESH:D015229 C01.221.812.640.220|C01.778.640.220|C01.925.256.650.810.217|C01.925.813.220|C01.925.825.810.110|C01.925.928.914.217|C12.100.937.640.220|C17.800.838.790.810.110 C01.221.812.640|C01.778.640|C01.925.256.650.810|C01.925.813|C01.925.825.810|C01.925.928.914|C12.100.937.640|C17.800.838.790.810 Genital Wart|Genital Warts|Venereal Wart|Venereal Warts|Wart, Genital|Warts, Genital|Warts, Venereal|Wart, Venereal Skin disease|Viral disease Cone Dystrophy MESH:D000077765 DO:DOID:0050795 A general term which describes a group of rare eye disorders that affect the cone cells of the RETINA. Cone dystrophy can cause a variety of symptoms including decreased visual clarity or acuity when looking straight ahead (central vision), a reduced ability to see colors, and an increased sensitivity to light (PHOTOPHOBIA). MESH:D012164|MESH:D015785 C11.270.151|C11.768.216 C11.270|C11.768 Cone Dystrophies|Cone Dystrophies, Progressive|Cone Dystrophies, Stationary|Cone Dystrophy, Progressive|Cone Dystrophy, Stationary|Dystrophies, Cone|Dystrophies, Progressive Cone|Dystrophies, Stationary Cone|Dystrophy, Cone|Dystrophy, Progressive Cone|Dystrophy, Stationary Cone|Progressive Cone Dystrophies|Progressive Cone Dystrophy|Stationary Cone Dystrophies|Stationary Cone Dystrophy Eye disease Cone Dystrophy 3 MESH:C566579 DO:DOID:0080314|OMIM:602093 MESH:D012174 C11.270.684/C566579|C11.768.585.658.500/C566579|C16.320.290.684/C566579 C11.270.684|C11.768.585.658.500|C16.320.290.684 COD3|Cone-Rod Dystrophy 14|CORD14|CORD14, INCLUDED|Retinal Cone Dystrophy|RETINAL CONE DYSTROPHY CONE-ROD DYSTROPHY 14, INCLUDED Eye disease|Genetic disease (inborn) Cone Dystrophy 4 MESH:C567758 OMIM:613093 MESH:D012174 C11.270.684/C567758|C11.768.585.658.500/C567758|C16.320.290.684/C567758 C11.270.684|C11.768.585.658.500|C16.320.290.684 ACHM5, INCLUDED|ACHROMATOPSIA 5, INCLUDED|COD4 Eye disease|Genetic disease (inborn) Cone Dystrophy, X-Linked, 1 MESH:C564439 MESH:D012174|MESH:D040181 C11.270.684/C564439|C11.768.585.658.500/C564439|C16.320.290.684/C564439|C16.320.322/C564439 C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.322 Eye disease|Genetic disease (inborn) Cone dystrophy, x-linked, with tapetal-like sheen MESH:C535975 MESH:D012174|MESH:D040181 C11.270.684/C535975|C11.768.585.658.500/C535975|C16.320.290.684/C535975|C16.320.322/C535975 C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.322 Eye disease|Genetic disease (inborn) Cone-Rod Dystrophies MESH:D000071700 Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness. MESH:D015785|MESH:D058499 C11.270.152|C11.768.585.658.250|C16.320.290.152 C11.270|C11.768.585.658|C16.320.290 Cone-Rod Degeneration|Cone Rod Degenerations|Cone-Rod Degenerations|Cone Rod Dystrophies|Cone-Rod Dystrophies, Retinal|Cone Rod Dystrophy|Cone-Rod Dystrophy|Cone Rod Dystrophy 2|Cone-Rod Dystrophy 2|Cone-Rod Dystrophy, Retinal|Cone-Rod Retinal Dystrophies|Cone Rod Retinal Dystrophy|Cone-Rod Retinal Dystrophy|Retinal Cone-Rod Dystrophies|Retinal Cone Rod Dystrophy|Retinal Cone-Rod Dystrophy|Retinal Dystrophies, Cone-Rod|Retinal Dystrophy, Cone-Rod|Rod Cone Dystrophies|Rod-Cone Dystrophies|Rod Cone Dystrophy|Rod-Cone Dystrophy Eye disease|Genetic disease (inborn) Cone-Rod Dystrophy 1 MESH:C563469 DO:DOID:0111009|OMIM:600624 MESH:D012174 C11.270.684/C563469|C11.768.585.658.500/C563469|C16.320.290.684/C563469 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD1|CRD1 Eye disease|Genetic disease (inborn) Cone-Rod Dystrophy 10 MESH:C564597 DO:DOID:0111017|OMIM:610283 MESH:D012174 C11.270.684/C564597|C11.768.585.658.500/C564597|C16.320.290.684/C564597 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD10 Eye disease|Genetic disease (inborn) Cone-Rod Dystrophy 11 MESH:C563671 DO:DOID:0111018|OMIM:610381 MESH:D012174 C11.270.684/C563671|C11.768.585.658.500/C563671|C16.320.290.684/C563671 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD11 Eye disease|Genetic disease (inborn) Cone-Rod Dystrophy 12 MESH:C567206 DO:DOID:0111019|OMIM:612657 MESH:D012174 C11.270.684/C567206|C11.768.585.658.500/C567206|C16.320.290.684/C567206 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD12 Eye disease|Genetic disease (inborn) Cone-Rod Dystrophy 13 MESH:C567698 DO:DOID:0111016|OMIM:608194 MESH:D012174 C11.270.684/C567698|C11.768.585.658.500/C567698|C16.320.290.684/C567698 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD13 Eye disease|Genetic disease (inborn) CONE-ROD DYSTROPHY 15 OMIM:613660 DO:DOID:0111021 MESH:D058499 C11.768.585.658/613660 C11.768.585.658 CORD15|MACULAR DYSTROPHY, RETINAL, 5, INCLUDED|MCDR5, INCLUDED|RETINITIS PIGMENTOSA 65, INCLUDED|RP65, INCLUDED Eye disease CONE-ROD DYSTROPHY 16 OMIM:614500 DO:DOID:0111022 MESH:D012174 C11.270.684/614500|C11.768.585.658.500/614500|C16.320.290.684/614500 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD16|RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT RETINITIS PIGMENTOSA 64, INCLUDED|RP64, INCLUDED Eye disease|Genetic disease (inborn) CONE-ROD DYSTROPHY 18 OMIM:615374 DO:DOID:0111024 MESH:D012174 C11.270.684/615374|C11.768.585.658.500/615374|C16.320.290.684/615374 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD18 Eye disease|Genetic disease (inborn) CONE-ROD DYSTROPHY 19 OMIM:615860 DO:DOID:0111025 MESH:D012174 C11.270.684/615860|C11.768.585.658.500/615860|C16.320.290.684/615860 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD19 Eye disease|Genetic disease (inborn) CONE-ROD DYSTROPHY 2 OMIM:120970 DO:DOID:0111005 MESH:D012174 C11.270.684/120970|C11.768.585.658.500/120970|C16.320.290.684/120970 C11.270.684|C11.768.585.658.500|C16.320.290.684 CONE-ROD DYSTROPHY|CONE-ROD RETINAL DYSTROPHY|CORD|CORD2|CRD|CRD2|RCRD2|RETINAL CONE-ROD DYSTROPHY Eye disease|Genetic disease (inborn) CONE-ROD DYSTROPHY 20 OMIM:615973 DO:DOID:0111026 MESH:D012174 C11.270.684/615973|C11.768.585.658.500/615973|C16.320.290.684/615973 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD20 Eye disease|Genetic disease (inborn) CONE-ROD DYSTROPHY 21 OMIM:616502 MESH:D012174 C11.270.684/616502|C11.768.585.658.500/616502|C16.320.290.684/616502 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD21|RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT Eye disease|Genetic disease (inborn) Cone-Rod Dystrophy 3 MESH:C565827 DO:DOID:0111013|OMIM:604116 MESH:D012174 C11.270.684/C565827|C11.768.585.658.500/C565827|C16.320.290.684/C565827 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD3 Eye disease|Genetic disease (inborn) Cone-Rod Dystrophy 5 MESH:C563415 DO:DOID:0111010|OMIM:600977 MESH:D012174 C11.270.684/C563415|C11.768.585.658.500/C563415|C16.320.290.684/C563415 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD5 Eye disease|Genetic disease (inborn) Cone-Rod Dystrophy 7 MESH:C566350 DO:DOID:0111012|OMIM:603649 MESH:D012174 C11.270.684/C566350|C11.768.585.658.500/C566350|C16.320.290.684/C566350 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD7 Eye disease|Genetic disease (inborn) Cone-Rod Dystrophy 8 MESH:C565322 DO:DOID:0111014|OMIM:605549 MESH:D012174 C11.270.684/C565322|C11.768.585.658.500/C565322|C16.320.290.684/C565322 C11.270.684|C11.768.585.658.500|C16.320.290.684 CORD8 Eye disease|Genetic disease (inborn) CONE-ROD DYSTROPHY 9 OMIM:612775 DO:DOID:0111020 MESH:D058499 C11.768.585.658/612775 C11.768.585.658 CORD9 Eye disease Cone rod dystrophy amelogenesis imperfecta MESH:C535976 MESH:D000567|MESH:D012174 C07.650.800.295.250/C535976|C07.793.700.295.250/C535976|C11.270.684/C535976|C11.768.585.658.500/C535976|C16.131.850.800.295.250/C535976|C16.320.290.684/C535976 C07.650.800.295.250|C07.793.700.295.250|C11.270.684|C11.768.585.658.500|C16.131.850.800.295.250|C16.320.290.684 Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease CONE-ROD DYSTROPHY AND HEARING LOSS 1 OMIM:617236 MESH:D012174|MESH:D034381 C09.218.458.341/617236|C10.597.751.418.341/617236|C11.270.684/617236|C11.768.585.658.500/617236|C16.320.290.684/617236|C23.888.592.763.393.341/617236 C09.218.458.341|C10.597.751.418.341|C11.270.684|C11.768.585.658.500|C16.320.290.684|C23.888.592.763.393.341 CRDHL|CRDHL1 Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms CONE-ROD DYSTROPHY, X-LINKED, 1 OMIM:304020 DO:DOID:0111008 MESH:D058499 C11.768.585.658/304020 C11.768.585.658 COD1, INCLUDED|CONE DYSTROPHY 1, X-LINKED, INCLUDED|CORDX1 Eye disease Cone-Rod Dystrophy, X-Linked, 2 MESH:C564717 OMIM:300085 MESH:D012174|MESH:D040181 C11.270.684/C564717|C11.768.585.658.500/C564717|C16.320.290.684/C564717|C16.320.322/C564717 C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.322 COD2|CONE DYSTROPHY 2, X-LINKED|Cone Dystrophy, X-Linked, 2|CORDX2 Eye disease|Genetic disease (inborn) Cone-Rod Dystrophy, X-Linked, 3 MESH:C564507 OMIM:300476 MESH:D012174|MESH:D040181 C11.270.684/C564507|C11.768.585.658.500/C564507|C16.320.290.684/C564507|C16.320.322/C564507 C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.322 CORDX3 Eye disease|Genetic disease (inborn) Cone-Rod Dystrophy, X-Linked, Type 1 MESH:C564438 MESH:D012174|MESH:D040181 C11.270.684/C564438|C11.768.585.658.500/C564438|C16.320.290.684/C564438|C16.320.322/C564438 C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.322 CORDX1 Eye disease|Genetic disease (inborn) CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE OMIM:610427 MESH:D009755 C11.966.671/610427 C11.966.671 CRSD|CSNB2B, FORMERLY|NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE, FORMERLY|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B, FORMERLY Eye disease Confusion MESH:D003221 A mental state characterized by bewilderment, emotional disturbance, lack of clear thinking, and perceptual disorientation. MESH:D019954 C10.597.606.337|C23.888.592.604.339 C10.597.606|C23.888.592.604 Bewilderment|Confusional State|Confusional States|Confusion, Post Ictal|Confusion, Post-Ictal|Confusion, Reactive|Disorientation|Post-Ictal Confusion|Reactive Confusion|State, Confusional|States, Confusional Nervous system disease|Signs and symptoms Congenital Abnormalities MESH:D000013 Malformations of organs or body parts during development in utero. MESH:D009358 C16.131 C16 Abnormalities, Congenital|Abnormality, Congenital|Anomaly, Fetal|Birth Defect|Birth Defects|Congenital Abnormality|Congenital Defect|Congenital Defects|Defect, Birth|Defect, Congenital|Defects, Congenital|Deformities|Deformity|Fetal Anomalies|Fetal Anomaly|Fetal Malformation|Fetal Malformations|Malformation, Fetal Congenital abnormality Congenital absence of gluteal muscles MESH:C535561 MESH:D009139 C05.660/C535561|C16.131.621/C535561 C05.660|C16.131.621 Congenital abnormality|Musculoskeletal disease Congenital absence of the sternocleidomastoid muscle MESH:C535977 MESH:D009139 C05.660/C535977|C16.131.621/C535977 C05.660|C16.131.621 Congenital abnormality|Musculoskeletal disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency MESH:C535978 OMIM:202010 MESH:D000312 C12.050.351.875.253.090.500/C535978|C12.200.706.316.090.500/C535978|C12.800.316.090.500/C535978|C16.131.939.316.129.500/C535978|C16.320.033/C535978|C16.320.565.925.249/C535978|C18.452.648.925.249/C535978|C19.053.440/C535978|C19.391.119.090.500/C535978 C12.050.351.875.253.090.500|C12.200.706.316.090.500|C12.800.316.090.500|C16.131.939.316.129.500|C16.320.033|C16.320.565.925.249|C18.452.648.925.249|C19.053.440|C19.391.119.090.500 11-Beta-hydroxylase deficiency|11 Beta Hydroxylase Deficiency|11B Hydroxylase Deficiency|Adrenal hyperplasia 4|Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency|Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency|Adrenal Hyperplasia, Hypertensive Form|Adrenal Hyperplasia IV|Congenital adrenal hyperplasia type 4|congenital CYP11B1 deficiency|CYP11B1 deficiency congenital|Hypertensive form of adrenal hyperplasia|Increased urinary 11-deoxytetrahydrocorticosterone level|P450C11B1 deficiency|Steroid 11 Beta Hydroxylase Deficiency|Steroid 11-Beta-Hydroxylase Deficiency Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Congenital adrenal hyperplasia due to 21 hydroxylase deficiency MESH:C535979 OMIM:201910 MESH:D000312 C12.050.351.875.253.090.500/C535979|C12.200.706.316.090.500/C535979|C12.800.316.090.500/C535979|C16.131.939.316.129.500/C535979|C16.320.033/C535979|C16.320.565.925.249/C535979|C18.452.648.925.249/C535979|C19.053.440/C535979|C19.391.119.090.500/C535979 C12.050.351.875.253.090.500|C12.200.706.316.090.500|C12.800.316.090.500|C16.131.939.316.129.500|C16.320.033|C16.320.565.925.249|C18.452.648.925.249|C19.053.440|C19.391.119.090.500 21 alpha hydroxylase deficiency|21 hydroxylase deficiency|21-Hydroxylase Deficiency|ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|Adrenal hyperplasia III|Attenuated congenital adrenal hyperplasia|Congenital adrenal hyperplasia 1|CONGENITAL ADRENAL HYPERPLASIA 1;CAH1 HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, INCLUDED|CYP21 deficiency|Late-onset congenital adrenal hyperplasia|LOCAH|NCCAH|Non classic congenital adrenal hyperplasia Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Congenital agenesis of the tricuspid valve MESH:C531836 MESH:D018785 C14.240.400.920/C531836|C14.280.400.920/C531836|C14.280.484.845/C531836|C16.131.240.400.920/C531836 C14.240.400.920|C14.280.400.920|C14.280.484.845|C16.131.240.400.920 Cardiovascular disease|Congenital abnormality Congenital alopecia X-linked MESH:C535981 MESH:D000505|MESH:D040181 C16.320.322/C535981|C17.800.329.937.122/C535981|C23.300.035/C535981 C16.320.322|C17.800.329.937.122|C23.300.035 Alopecia congenital|Alopecia, Congenital|Congenital alopecia Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease Congenital amegakaryocytic thrombocytopenia MESH:C535982 DO:DOID:0090118|OMIM:604498 MESH:D000080984|MESH:D013921 C15.378.140.855/C535982|C15.378.190.223.500/C535982|C16.614.183/C535982 C15.378.140.855|C15.378.190.223.500|C16.614.183 Amegakaryocytic Thrombocytopenia, Congenital|AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 1|CAMT1 Blood disease|Infant-newborn disease Congenital anosmia MESH:C535983 OMIM:107200 MESH:D000857 C10.597.751.600/C535983|C23.888.592.763.550/C535983 C10.597.751.600|C23.888.592.763.550 ANIC|Anosmia, Congenital|Anosmia, Isolated Congenital|Isolated congenital anosmia Nervous system disease|Signs and symptoms Congenital atransferrinemia MESH:C538259 OMIM:209300 MESH:D008664 C16.320.565.618/C538259|C18.452.648.618/C538259 C16.320.565.618|C18.452.648.618 Atransferrinemia|Familial hypotransferrinemia|Hypotransferrinemia, Familial|HYPOTRANSFERRINEMIA, FAMILIAL TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED|TFQTL1, INCLUDED Genetic disease (inborn)|Metabolic disease Congenital bilateral aplasia of vas deferens MESH:C535984 OMIM:277180|OMIM:300985 MESH:D052801 C12.200/C535984 C12.200 Absence of Vas Deferens|Absent Vasa|CAVD VAS DEFERENS, CONGENITAL UNILATERAL APLASIA OF, INCLUDED|CBAVD|CBAVDX|Congenital Absence of Vas Deferens|Congenital Aplasia of Vas Deferens|Congenital bilateral absence of the vas deferens|Congenital Bilateral Absence of Vas Deferens|CUAVD, INCLUDED|Vas Deferens, Congenital Bilateral Aplasia Of|VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED Urogenital disease (male) Congenital Bone Marrow Failure Syndromes MESH:D000080984 OMIM:614675|OMIM:615715|OMIM:617052 Inherited syndromes characterized by deficiency or absence of various blood cells due to mutations that affect HEMATOPOIETIC STEM CELLS development and proliferation. MESH:D000080983|MESH:D007232 C15.378.190.223.500|C16.614.183 C15.378.190.223|C16.614 BMFS1|BMFS2|BMFS3|BMF Syndrome, Inherited|BONE MARROW FAILURE SYNDROME 1|BONE MARROW FAILURE SYNDROME 2|BONE MARROW FAILURE SYNDROME 3|Bone Marrow Failure Syndromes, Congenital|Bone Marrow Failure Syndromes, Inherited|CBMFS|Congenital Bone Marrow Failure Syndrome|IBMFS|Inherited BMF Syndrome|Inherited BMF Syndromes|Inherited Bone Marrow Failure Syndrome|Inherited Bone Marrow Failure Syndromes Blood disease|Infant-newborn disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy MESH:C565822 OMIM:604168 MESH:D002386|MESH:D009422|MESH:D019465 C05.660.207/C565822|C10/C565822|C11.510.245/C565822|C16.131.621.207/C565822 C05.660.207|C10|C11.510.245|C16.131.621.207 Cataract, Congenital, With Facial Dysmorphism And Neuropathy|CCFDN Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION OMIM:614482 MESH:D002386|MESH:D011596|MESH:D034381 C09.218.458.341/614482|C10.597.606.881/614482|C10.597.751.418.341/614482|C11.510.245/614482|C23.888.592.604.882/614482|C23.888.592.763.393.341/614482 C09.218.458.341|C10.597.606.881|C10.597.751.418.341|C11.510.245|C23.888.592.604.882|C23.888.592.763.393.341 CCHLND Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms Congenital central hypoventilation syndrome MESH:C536209 DO:DOID:0060731|OMIM:209880 MESH:D007040|MESH:D020182 C08.618.085.852.800/C536209|C08.618.846.565/C536209|C10.886.425.800.750.800/C536209|C23.888.852.638/C536209 C08.618.085.852.800|C08.618.846.565|C10.886.425.800.750.800|C23.888.852.638 Autonomic Control, Congenital Failure of|CCHS|CCHS1|Cchs With Hirschsprung Disease|CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED|Central Hypoventilation Syndrome, Congenital|CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1|Congenital failure of autonomic control|Congenital Ondine curse|Haddad Syndrome|HADDAD SYNDROME, INCLUDED|Idiopathic congenital central alveolar hypoventilation|OHD, INCLUDED|Ondine Curse, Congenital|ONDINE CURSE, CONGENITAL ONDINE-HIRSCHSPRUNG DISEASE, INCLUDED|Ondine-Hirschsprung Disease|Primary alveolar hypoventilation Nervous system disease|Respiratory tract disease|Signs and symptoms Congenital chloride diarrhea MESH:C536210 DO:DOID:0060296|OMIM:214700 MESH:D003967|MESH:D008661 C16.320.565/C536210|C18.452.648/C536210|C23.888.821.214/C536210 C16.320.565|C18.452.648|C23.888.821.214 CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE|Chloridorrhea, congenital|Congenital chloridorrhea|Darrow-Gamble disease|DIAR1|Diarrhea 1, secretory chloride, congenital Genetic disease (inborn)|Metabolic disease|Signs and symptoms Congenital chylous ascites MESH:C531654 MESH:D002915 C06.844.200/C531654 C06.844.200 Digestive system disease Congenital contractural arachnodactyly MESH:C536211 DO:DOID:0111595|OMIM:121050 MESH:D003286|MESH:D054119 C05.550.323/C536211|C05.651.197/C536211|C05.660.585.174/C536211|C16.131.621.585.174/C536211 C05.550.323|C05.651.197|C05.660.585.174|C16.131.621.585.174 Arachnodactyly, contractural Beals type|Arthrogryposis, Distal, Type 9|Beals-Hecht syndrome|Beals syndrome|CCA|Contractural Arachnodactyly, Congenital|Contractures, multiple with arachnodactyly|DA9|Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis Congenital abnormality|Musculoskeletal disease CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY OMIM:616266 DO:DOID:0081048 MESH:D002658|MESH:D003286|MESH:D009123|MESH:D017880|MESH:D019465 C05.550.323/616266|C05.651.197/616266|C05.660.207/616266|C05.660.585/616266|C10.597.613.575/616266|C16.131.621.207/616266|C16.131.621.585/616266|C23.888.592.608.575/616266|F03.625.421/616266 C05.550.323|C05.651.197|C05.660.207|C05.660.585|C10.597.613.575|C16.131.621.207|C16.131.621.585|C23.888.592.608.575|F03.625.421 CLIFAHDD Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Congenital Corneal Opacities, Cornea Guttata, and Corectopia MESH:C563921 MESH:D003317|MESH:D011681 C10.597.690/C563921|C11.204.236/C563921|C11.270.162/C563921|C11.710/C563921|C16.320.290.162/C563921|C23.888.592.708/C563921 C10.597.690|C11.204.236|C11.270.162|C11.710|C16.320.290.162|C23.888.592.708 Corneal Opacities, Congenital, with Cornea Guttata and Corectopia Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Congenital Cranial Dysinnervation Disorders MESH:D000093922 Congenital neurodevelopmental diseases characterized by abnormal eye, eyelid, and facial movements. Congenital cranial dysinnervation disorders (CCDDs) are caused by abnormal innervation of CRANIAL NERVES (e.g., CNs III, IV and VI) resulting in aplasia or hypoplasia of the ocular and facial musculature involved in EYE MOVEMENTS. MESH:D009421|MESH:D015840 C10.292.562.700.375|C10.500.198|C11.590.436.400|C16.131.666.198 C10.292.562.700|C10.500|C11.590.436|C16.131.666 Congenital Cranial Dysinnervation Syndromes|Congenital Fibrosis Syndrome|Congenital Fibrosis Syndromes|Congenital Innervation Dysgenesis Syndrome Congenital abnormality|Eye disease|Nervous system disease Congenital Deficiency of Pulmonary Surfactant Protein B MESH:C553654 MESH:D011649 C08.381.719/C553654 C08.381.719 Congenital Surfactant Protein-B Deficiency|Pulmonary Surfactant Protein B, Deficiency of|Surfactant Protein B Deficiency Respiratory tract disease Congenital dislocation of the patella MESH:C538081 MESH:D031222 C05.550.518.625/C538081|C26.289.625/C538081|C26.558.554.750/C538081 C05.550.518.625|C26.289.625|C26.558.554.750 Congenital patellar dislocation Musculoskeletal disease|Wounds and injuries CONGENITAL DISORDER OF DEGLYCOSYLATION 1 OMIM:615273 DO:DOID:0060728 MESH:D018981 C16.320.565.202.125/615273|C18.452.648.202.125/615273 C16.320.565.202.125|C18.452.648.202.125 CDDG|CDDG1|CDG1V, FORMERLY|CONGENITAL DISORDER OF DEGLYCOSYLATION|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv, FORMERLY Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1A MESH:C535739 OMIM:212065 MESH:D018981 C16.320.565.202.125/C535739|C18.452.648.202.125/C535739 C16.320.565.202.125|C18.452.648.202.125 Carbohydrate-deficient glycoprotein syndrome type 1A|Carbohydrate-Deficient Glycoprotein Syndrome Type Ia|CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY|CDG1A|CDG Ia|CDGIa|Congenital Disorder of Glycosylation Type Ia|Congenital Disorder of Glycosylation, Type Ia|Jaeken syndrome|Phosphomannomutase 2 deficiency|Pmm2-CDG|PMM2 deficiency Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1B MESH:C535740 OMIM:602579 MESH:D018981 C16.320.565.202.125/C535740|C18.452.648.202.125/C535740 C16.320.565.202.125|C18.452.648.202.125 Carbohydrate-deficient glycoprotein syndrome type 1B|CDG1B|CDG, GASTROINTESTINAL TYPE|CDG Ib|CDGIb|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib|Mannosephosphate isomerase deficiency|MPI DEFICIENCY|Protein-losing enteropathy-hepatic fibrosis syndrome|Saguenay-Lac Saint-Jean syndrome|SLSJ SYNDROME Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1C MESH:C535741 OMIM:603147 MESH:D018981 C16.320.565.202.125/C535741|C18.452.648.202.125/C535741 C16.320.565.202.125|C18.452.648.202.125 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY|Carbohydrate-deficient glycoprotein syndrome type V|CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V, FORMERLY|CDG1C|CDG Ic|CDGIc|CDGS5, FORMERLY|Congenital Disorder Of Glycosylation, Type Ic Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1D MESH:C535742 OMIM:601110 MESH:D018981 C16.320.565.202.125/C535742|C18.452.648.202.125/C535742 C16.320.565.202.125|C18.452.648.202.125 Carbohydrate-deficient glycoprotein syndrome, type 4|CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY|CDG1D|CDG Id|CDGId|CDGS4, FORMERLY|CDGS, TYPE IV, FORMERLY|Congenital Disorder Of Glycosylation, Type ID Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1E MESH:C535743 OMIM:608799 MESH:D018981 C16.320.565.202.125/C535743|C18.452.648.202.125/C535743 C16.320.565.202.125|C18.452.648.202.125 CDG1E|CDG Ie|CDGIe|Congenital Disorder of Glycosylation, Type IE Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1F MESH:C535744 OMIM:609180 MESH:D018981 C16.320.565.202.125/C535744|C18.452.648.202.125/C535744 C16.320.565.202.125|C18.452.648.202.125 CDG1F|CDG If|CDGIf|Congenital Disorder of Glycosylation, Type IF Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1G MESH:C535745 OMIM:607143 MESH:D018981 C16.320.565.202.125/C535745|C18.452.648.202.125/C535745 C16.320.565.202.125|C18.452.648.202.125 CDG1G|CDG Ig|CDGIg|Congenital Disorder of Glycosylation, Type IG Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1H MESH:C535746 OMIM:608104 MESH:D018981 C16.320.565.202.125/C535746|C18.452.648.202.125/C535746 C16.320.565.202.125|C18.452.648.202.125 CDG1H|CDG Ih|CDGIh|Congenital Disorder of Glycosylation, Type IH Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1I MESH:C000623088 MESH:D018981 C16.320.565.202.125/C000623088|C18.452.648.202.125/C000623088 C16.320.565.202.125|C18.452.648.202.125 Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1J MESH:C535748 OMIM:608093 MESH:D018981 C16.320.565.202.125/C535748|C18.452.648.202.125/C535748 C16.320.565.202.125|C18.452.648.202.125 CDG1J|CDG Ij|CDGIj|Congenital Disorder of Glycosylation, Type IJ Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1K MESH:C535749 OMIM:608540 MESH:D018981 C16.320.565.202.125/C535749|C18.452.648.202.125/C535749 C16.320.565.202.125|C18.452.648.202.125 CDG1K|CDG Ik|CDGIk|Congenital Disorder Of Glycosylation, Type IK Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1L MESH:C535750 OMIM:608776 MESH:D018981 C16.320.565.202.125/C535750|C18.452.648.202.125/C535750 C16.320.565.202.125|C18.452.648.202.125 CDG1L|CDG Il|CDGIl|Congenital Disorder of Glycosylation, Type IL Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 1X MESH:C535751 MESH:D013921|MESH:D018981 C15.378.140.855/C535751|C16.320.565.202.125/C535751|C18.452.648.202.125/C535751 C15.378.140.855|C16.320.565.202.125|C18.452.648.202.125 Blood disease|Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 2A MESH:C535752 DO:DOID:0070253|OMIM:212066 MESH:D001851|MESH:D018981 C05.116.198/C535752|C16.320.565.202.125/C535752|C18.452.104/C535752|C18.452.648.202.125/C535752 C05.116.198|C16.320.565.202.125|C18.452.104|C18.452.648.202.125 ALKURAYA SYNDROME|Carbohydrate-deficient glycoprotein syndrome, type 2|CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY|CDG2A|CDG IIA|CDGIIA|CDGS2, FORMERLY|Congenital Disorder Of Glycosylation, Type IIA|MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Congenital disorder of glycosylation, type 2C MESH:C535755 DO:DOID:0070255|OMIM:266265 MESH:D018981 C16.320.565.202.125/C535755|C18.452.648.202.125/C535755 C16.320.565.202.125|C18.452.648.202.125 CDG2C|CDG IIc|CDGIIc|Congenital Disorder Of Glycosylation, Type IIC|LAD2|Leukocyte adhesion deficiency, type 2|Leukocyte Adhesion Deficiency, Type II|Rambam Hasharon syndrome|Rambam-Hasharon Syndrome|RHS Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 2D MESH:C535753 DO:DOID:0070256|OMIM:607091 MESH:D018981 C16.320.565.202.125/C535753|C18.452.648.202.125/C535753 C16.320.565.202.125|C18.452.648.202.125 CDG2D|CDG IId|CDGIId|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type 2E MESH:C535754 DO:DOID:0070257|OMIM:608779 MESH:D018981 C16.320.565.202.125/C535754|C18.452.648.202.125/C535754 C16.320.565.202.125|C18.452.648.202.125 CDG2E|CDG IIE|CDGIIE|Congenital Disorder Of Glycosylation, Type IIE Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation, type 2G MESH:C535756 DO:DOID:0070259|OMIM:611209 MESH:D018981 C16.320.565.202.125/C535756|C18.452.648.202.125/C535756 C16.320.565.202.125|C18.452.648.202.125 CDG2G|CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME|CDG IIG|CDGIIG|Congenital Disorder Of Glycosylation, Type IIG Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa OMIM:617082 DO:DOID:0080553 MESH:D018981 C16.320.565.202.125/617082|C18.452.648.202.125/617082 C16.320.565.202.125|C18.452.648.202.125 CDG1AA Genetic disease (inborn)|Metabolic disease Congenital disorder of glycosylation type II MESH:C535747 DO:DOID:0050571|OMIM:607906 MESH:D018981 C16.320.565.202.125/C535747|C18.452.648.202.125/C535747 C16.320.565.202.125|C18.452.648.202.125 CDG1I|CDG II|CDGII|Congenital Disorder Of Glycosylation, Type II Genetic disease (inborn)|Metabolic disease Congenital Disorder Of Glycosylation, Type IIB MESH:C565264 DO:DOID:0070254|OMIM:606056 MESH:D018981 C16.320.565.202.125/C565264|C18.452.648.202.125/C565264 C16.320.565.202.125|C18.452.648.202.125 CDG2B|CDG IIB|CDGIIB|Glucosidase I Deficiency Genetic disease (inborn)|Metabolic disease Congenital Disorder Of Glycosylation, Type IIF MESH:C567040 DO:DOID:0070258|OMIM:603585 MESH:D018981 C16.320.565.202.125/C567040|C18.452.648.202.125/C567040 C16.320.565.202.125|C18.452.648.202.125 CDG2F|CDG IIF|CDGIIF Genetic disease (inborn)|Metabolic disease Congenital Disorder Of Glycosylation, Type IIH MESH:C566987 DO:DOID:0070260|OMIM:611182 MESH:D018981 C16.320.565.202.125/C566987|C18.452.648.202.125/C566987 C16.320.565.202.125|C18.452.648.202.125 CDG2H|CDG IIh|CDGIIH|CDG IIIH Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi OMIM:613612 DO:DOID:0070261 MESH:D018981 C16.320.565.202.125/613612|C18.452.648.202.125/613612 C16.320.565.202.125|C18.452.648.202.125 CDG2I|CDG IIi|CDGIIi Genetic disease (inborn)|Metabolic disease Congenital Disorder Of Glycosylation, Type IIID MESH:C564625 MESH:D018981 C16.320.565.202.125/C564625|C18.452.648.202.125/C564625 C16.320.565.202.125|C18.452.648.202.125 CDG2D|CDG IID|CDGIID Genetic disease (inborn)|Metabolic disease Congenital Disorder Of Glycosylation, Type I-IIX MESH:C562844 OMIM:212067 MESH:D018981 C16.320.565.202.125/C562844|C18.452.648.202.125/C562844 C16.320.565.202.125|C18.452.648.202.125 CDG-x|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj OMIM:613489 DO:DOID:0070262 MESH:D018981 C16.320.565.202.125/613489|C18.452.648.202.125/613489 C16.320.565.202.125|C18.452.648.202.125 CDG2J|CDG IIj|CDGIIj Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk OMIM:614727 DO:DOID:0070263 MESH:D018981 C16.320.565.202.125/614727|C18.452.648.202.125/614727 C16.320.565.202.125|C18.452.648.202.125 CDG2K|CDG IIk|CDGIIk Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl OMIM:614576 DO:DOID:0070264 MESH:D018981 C16.320.565.202.125/614576|C18.452.648.202.125/614576 C16.320.565.202.125|C18.452.648.202.125 CDG2L|CDG IIl|CDGIIl Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm OMIM:300896 DO:DOID:0070265 MESH:D018981 C16.320.565.202.125/300896|C18.452.648.202.125/300896 C16.320.565.202.125|C18.452.648.202.125 CDG2M|CDG IIm|CDGIIm|DEE22|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22|EIEE22|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22 Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn OMIM:616721 DO:DOID:0070266 MESH:D018981 C16.320.565.202.125/616721|C18.452.648.202.125/616721 C16.320.565.202.125|C18.452.648.202.125 CDG2N|CDG IIn|CDGIIn Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo OMIM:616828 DO:DOID:0070267 MESH:D018981 C16.320.565.202.125/616828|C18.452.648.202.125/616828 C16.320.565.202.125|C18.452.648.202.125 CDG2O|CDG IIo|CDGIIo Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp OMIM:616829 DO:DOID:0070268 MESH:D018981 C16.320.565.202.125/616829|C18.452.648.202.125/616829 C16.320.565.202.125|C18.452.648.202.125 CDG2P|CDG IIp|CDGIIp Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq OMIM:617395 DO:DOID:0070269 MESH:D018981 C16.320.565.202.125/617395|C18.452.648.202.125/617395 C16.320.565.202.125|C18.452.648.202.125 CDG2Q|CDG IIq|CDGIIq Genetic disease (inborn)|Metabolic disease Congenital Disorder Of Glycosylation, Type Im MESH:C563666 OMIM:610768 MESH:D018981 C16.320.565.202.125/C563666|C18.452.648.202.125/C563666 C16.320.565.202.125|C18.452.648.202.125 CDG1m|CDG Im|CDGIm|DK1 DEFICIENCY|Dolichol Kinase Deficiency Genetic disease (inborn)|Metabolic disease Congenital Disorder Of Glycosylation, Type In MESH:C567437 OMIM:612015 MESH:D018981 C16.320.565.202.125/C567437|C18.452.648.202.125/C567437 C16.320.565.202.125|C18.452.648.202.125 CDG1N|CDG In|CDGIn Genetic disease (inborn)|Metabolic disease Congenital Disorder of Glycosylation, Type Io MESH:C567857 OMIM:612937 MESH:D018981 C16.320.565.202.125/C567857|C18.452.648.202.125/C567857 C16.320.565.202.125|C18.452.648.202.125 CDG1(DPM3)|CDG1o|CDG Io|CDGIo|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io|MDDGC15|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DPM3-RELATED|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip OMIM:613661 DO:DOID:0080567 MESH:D018981 C16.320.565.202.125/613661|C18.452.648.202.125/613661 C16.320.565.202.125|C18.452.648.202.125 CDG1P Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq OMIM:612379 DO:DOID:0080568 MESH:D018981 C16.320.565.202.125/612379|C18.452.648.202.125/612379 C16.320.565.202.125|C18.452.648.202.125 CDG1Q|CDG Iq|CDGIq|COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir OMIM:614507 DO:DOID:0080569 MESH:D018981 C16.320.565.202.125/614507|C18.452.648.202.125/614507 C16.320.565.202.125|C18.452.648.202.125 CDG1R|CDG Ir|CDGIr Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu OMIM:615042 DO:DOID:0080571 MESH:D018981 C16.320.565.202.125/615042|C18.452.648.202.125/615042 C16.320.565.202.125|C18.452.648.202.125 CDG1U|CDG Iu|CDGIu Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE OMIM:615596 DO:DOID:0080572 MESH:D018981 C16.320.565.202.125/615596|C18.452.648.202.125/615596 C16.320.565.202.125|C18.452.648.202.125 CDG1WAR Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix OMIM:615597 DO:DOID:0080573 MESH:D018981 C16.320.565.202.125/615597|C18.452.648.202.125/615597 C16.320.565.202.125|C18.452.648.202.125 CDG1X|CDG Ix|CDGIx Genetic disease (inborn)|Metabolic disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy OMIM:300934 DO:DOID:0080574 MESH:D018981 C16.320.565.202.125/300934|C18.452.648.202.125/300934 C16.320.565.202.125|C18.452.648.202.125 CDG1Y|CDGIy|CDG IY Genetic disease (inborn)|Metabolic disease Congenital Disorders of Glycosylation MESH:D018981 DO:DOID:5212 A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation. MESH:D002239 C16.320.565.202.125|C18.452.648.202.125 C16.320.565.202|C18.452.648.202 Carbohydrate Deficient Glycoprotein Syndrome|Carbohydrate-Deficient Glycoprotein Syndrome|Carbohydrate-Deficient Glycoprotein Syndromes|Glycoprotein Syndrome, Carbohydrate-Deficient|Syndrome, Carbohydrate-Deficient Glycoprotein|Syndromes, Carbohydrate-Deficient Glycoprotein Genetic disease (inborn)|Metabolic disease Congenital ectodermal dysplasia with hearing loss MESH:C535757 MESH:D003286|MESH:D004476|MESH:D006319 C05.550.323/C535757|C05.651.197/C535757|C09.218.458.341.887/C535757|C10.597.751.418.341.887/C535757|C16.131.077.350/C535757|C16.131.831.350/C535757|C16.320.850.250/C535757|C17.800.804.350/C535757|C17.800.827.250/C535757|C23.888.592.763.393.341.887/C535757 C05.550.323|C05.651.197|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.888.592.763.393.341.887 Mikaelian syndrome Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Congenital facial diplegia MESH:C531747 MESH:D020331 C07.465.299.825/C531747|C10.292.319.825/C531747|C10.292.562.700.375.750/C531747|C11.590.436.400.750/C531747|C16.131.077.578/C531747|C16.614.595/C531747 C07.465.299.825|C10.292.319.825|C10.292.562.700.375.750|C11.590.436.400.750|C16.131.077.578|C16.614.595 Facial Diplegia, Congenital Congenital abnormality|Eye disease|Infant-newborn disease|Mouth disease|Nervous system disease Congenital facial linear porokeratosis MESH:C538641 MESH:D005148|MESH:D017499 C16.320.850.730/C538641|C17.800.271/C538641|C17.800.428.750/C538641|C17.800.827.730/C538641 C16.320.850.730|C17.800.271|C17.800.428.750|C17.800.827.730 Genetic disease (inborn)|Skin disease congenital fibrosis of the extraocular muscles MESH:C580012 DO:DOID:0080143 MESH:D000093922|MESH:D009886 C10.292.562.700.375/C580012|C10.292.562.750/C580012|C10.500.198/C580012|C10.597.622.447/C580012|C11.590.436.400/C580012|C11.590.472/C580012|C16.131.666.198/C580012|C23.888.592.636.447/C580012 C10.292.562.700.375|C10.292.562.750|C10.500.198|C10.597.622.447|C11.590.436.400|C11.590.472|C16.131.666.198|C23.888.592.636.447 Cfeom|Congenital External Ophthalmoplegia|General Fibrosis Syndrome Congenital abnormality|Eye disease|Nervous system disease|Signs and symptoms Congenital heart block MESH:C535758 DO:DOID:990 MESH:D006327 C14.280.067.558/C535758|C14.280.123.500/C535758|C23.550.073.425/C535758 C14.280.067.558|C14.280.123.500|C23.550.073.425 Congenital complete heart block|Congenital Heart Block, Isolated|Familial congenital heart block|Heart Block, Congenital|Isolated Congenital Heart Block|Isolated Heart Block, Congenital Cardiovascular disease|Pathology (process) CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA OMIM:617364 MESH:D004476|MESH:D006330 C14.240.400/617364|C14.280.400/617364|C16.131.077.350/617364|C16.131.240.400/617364|C16.131.831.350/617364|C16.320.850.250/617364|C17.800.804.350/617364|C17.800.827.250/617364 C14.240.400|C14.280.400|C16.131.077.350|C16.131.240.400|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 CHDED Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Skin disease CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER OMIM:617360 DO:DOID:0112247 MESH:D002658|MESH:D006330|MESH:D008607|MESH:D019066|MESH:D019465 C05.660.207/617360|C10.597.606.360/617360|C14.240.400/617360|C14.280.400/617360|C16.131.240.400/617360|C16.131.621.207/617360|C23.550.291.812/617360|C23.888.592.604.646/617360|F03.625.421/617360|F03.625.539/617360 C05.660.207|C10.597.606.360|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207|C23.550.291.812|C23.888.592.604.646|F03.625.421|F03.625.539 CHDFIDD Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 OMIM:614980 MESH:D006330 C14.240.400/614980|C14.280.400/614980|C16.131.240.400/614980 C14.240.400|C14.280.400|C16.131.240.400 CHTD2 Cardiovascular disease|Congenital abnormality CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 OMIM:615779 MESH:D006330 C14.240.400/615779|C14.280.400/615779|C16.131.240.400/615779 C14.240.400|C14.280.400|C16.131.240.400 CHTD4 Cardiovascular disease|Congenital abnormality CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 OMIM:613854 DO:DOID:0060772 MESH:D014188 C14.240.400.915/613854|C14.280.400.915/613854|C16.131.240.400.915/613854 C14.240.400.915|C14.280.400.915|C16.131.240.400.915 CHTD6|DTGA3, FORMERLY|TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3, FORMERLY Cardiovascular disease|Congenital abnormality Congenital Heart Defects, X-Linked MESH:C567444 MESH:D006330|MESH:D040181 C14.240.400/C567444|C14.280.400/C567444|C16.131.240.400/C567444|C16.320.322/C567444 C14.240.400|C14.280.400|C16.131.240.400|C16.320.322 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects MESH:C562515 DO:DOID:0111822|OMIM:308050 MESH:D000015|MESH:D016113|MESH:D017880|MESH:D040181 C05.660.585/C562515|C16.131.077/C562515|C16.131.621.585/C562515|C16.131.831.512.400/C562515|C16.320.322/C562515|C16.320.850.400/C562515|C16.614.492.400/C562515|C17.800.428.333.250/C562515|C17.800.804.512.400/C562515|C17.800.827.400/C562515 C05.660.585|C16.131.077|C16.131.621.585|C16.131.831.512.400|C16.320.322|C16.320.850.400|C16.614.492.400|C17.800.428.333.250|C17.800.804.512.400|C17.800.827.400 CHILD Syndrome|Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity Of Limbs Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease|Skin disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities MESH:D009358 Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. MESH:C C16 C Congenital Disorder|Congenital Disorders|Disorder, Congenital|Disorders, Congenital|Neonatal Diseases and Abnormalities Congenital Hyperinsulinism MESH:D044903 OMIM:256450|OMIM:601820 A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8). MESH:D006946|MESH:D007003|MESH:D007232|MESH:D010182 C06.689.150|C16.614.200|C18.452.394.968.250|C18.452.394.984.200 C06.689|C16.614|C18.452.394.968|C18.452.394.984 Congenital Hyperinsulinisms|Familial Hyperinsulinemic Hypoglycemia 1|Familial Hyperinsulinism|Familial Hyperinsulinisms|HHF1|HHF2|Hyperinsulinemia Hypoglycemia of Infancy|Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia|Hyperinsulinemic Hypoglycemia, Familial, 1|Hyperinsulinemic Hypoglycemia, Familial, 2|Hyperinsulinemic Hypoglycemia, Persistent|Hyperinsulinemic Hypoglycemias, Persistent|Hyperinsulinism, Congenital|Hyperinsulinism, Familial|HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS|Hyperinsulinism, Neonatal|Hyperinsulinisms, Congenital|Hyperinsulinisms, Familial|Hyperinsulinisms, Neonatal|Hypoglycemia, Hyperinsulinemic, of Infancy|Hypoglycemia, Persistent Hyperinsulinemic|Hypoglycemia, PHHI|Hypoglycemias, Persistent Hyperinsulinemic|Hypoglycemias, PHHI|Infancy Hyperinsulinemia Hypoglycemia|Infancy Hyperinsulinemia Hypoglycemias|Neonatal Hyperinsulinism|Neonatal Hyperinsulinisms|NESIDIOBLASTOSIS|NESIDIOBLASTOSIS OF PANCREAS|Persistent Hyperinsulinemia Hypoglycemia of Infancy|Persistent Hyperinsulinemic Hypoglycemia|PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY|Persistent Hyperinsulinemic Hypoglycemias|PHHI|PHHI Hypoglycemia|PHHI Hypoglycemias Digestive system disease|Infant-newborn disease|Metabolic disease Congenital hypertrichosis lanuginosa MESH:C538389 OMIM:145700 MESH:D006983 C17.800.329.875/C538389 C17.800.329.875 Hypertrichosis lanuginosa congenita|Hypertrichosis lanuginosa universalis|Hypertrichosis universalis Skin disease Congenital Hypothyroidism MESH:D003409 DO:DOID:0050328 A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA. MESH:D001849|MESH:D004392|MESH:D007037 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 C05.116.099.343|C05.116.132|C16.320.240|C19.297|C19.874.482 Cretinism|Cretinism, Endemic|Endemic Cretinism|Fetal Iodine Deficiency Disorder|Hypothyroidism, Congenital|Myxedema, Congenital Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Congenital idiopathic intestinal pseudoobstruction MESH:C535532 OMIM:300048 MESH:D007418|MESH:D040181 C06.405.469.531.492.500/C535532|C16.320.322/C535532 C06.405.469.531.492.500|C16.320.322 CIIP|CIIPX|CIIP, X-LINKED|CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION|Intestinal pseudoobstruction chronic idiopathic|Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement|INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT CONGENITAL SHORT BOWEL SYNDROME, X-LINKED, INCLUDED|Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked|IPOX Digestive system disease|Genetic disease (inborn) Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi MESH:C567863 OMIM:612918 MESH:D008067|MESH:D009139|MESH:D009506|MESH:D054079 C04.557.450.550.400/C567863|C04.557.665.560/C567863|C05.660/C567863|C14.240.850/C567863|C16.131.240.850/C567863|C16.131.621/C567863 C04.557.450.550.400|C04.557.665.560|C05.660|C14.240.850|C16.131.240.850|C16.131.621 Cloves Syndrome|Clove Syndrome|Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal-Spinal Abnormalities|CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES Cancer|Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Congenital lobar emphysema MESH:C535735 MESH:D011656 C08.381.495.389.750/C535735|C23.550.291.500.875.875/C535735 C08.381.495.389.750|C23.550.291.500.875.875 Emphysema, congenital lobar Pathology (process)|Respiratory tract disease Congenitally Corrected Transposition of the Great Arteries MESH:D000080041 A rare heart defect that occurs when the HEART VENTRICLES and attached valves, the MITRAL VALVE and the TRICUSPID VALVE are reversed so that the AORTA and the PULMONARY ARTERY are connected to the wrong ventricle. Although the heart valves and the two great arteries, the PULMONARY ARTERY and the AORTA are transposed, the blood flows to the correct place because the ventricles are also reversed and therefore corrects the transposition. It often occurs with other structural heart abnormalities. MESH:D014188 C14.240.400.915.150|C14.280.400.915.150|C16.131.240.400.915.150 C14.240.400.915|C14.280.400.915|C16.131.240.400.915 Congenitally Corrected TGA|Congenitally Corrected TGAs|Congenitally Corrected Transposition|Congenitally Corrected Transposition of the Great Vessels|Congenitally Corrected Transpositions|TGA, Congenitally Corrected|Transposition, Congenitally Corrected Cardiovascular disease|Congenital abnormality Congenital macroglossia MESH:C531735 MESH:D008260 C07.465.910.460/C531735 C07.465.910.460 Enlarged tongue|Giant tongue Mouth disease Congenital Methemoglobinemia MESH:C580280 MESH:D008708 C15.378.619/C580280 C15.378.619 Blood disease Congenital Microtia MESH:D065817 Malformation of external portion of EAR AURICLE. MESH:D000013|MESH:D004427 C09.218.235|C16.131.287 C09.218|C16.131 Anotia|Anotias|Congenital Microtias|Microtia|Microtia, Congenital|Microtias|Microtias, Congenital Congenital abnormality|Ear-nose-throat disease Congenital myasthenic syndrome ib MESH:C536089 OMIM:254300 MESH:D020294 C10.668.758.800/C536089|C16.320.590/C536089 C10.668.758.800|C16.320.590 CMS10|CMS1B, FORMERLY|CMS Ib, FORMERLY|Congenital Myasthenic Syndrome Type Ib|CONGENITAL MYASTHENIC SYNDROME TYPE Ib, FORMERLY|LGM, FORMERLY|Myasthenia, familial limb-girdle|Myasthenia, Limb-Girdle, Familial|MYASTHENIA, LIMB-GIRDLE, FAMILIAL, FORMERLY|MYASTHENIC MYOPATHY, FORMERLY|MYASTHENIC SYNDROME, CONGENITAL, 10 Genetic disease (inborn)|Nervous system disease Congenital myasthenic syndrome with episodic apnea MESH:C535759 OMIM:254210 MESH:D001049|MESH:D009157 C04.588.614.550.500/C535759|C04.730.856.490/C535759|C08.618.085/C535759|C10.114.656/C535759|C10.574.781.588/C535759|C10.668.758.725/C535759|C20.111.258.500/C535759|C23.888.852.130/C535759 C04.588.614.550.500|C04.730.856.490|C08.618.085|C10.114.656|C10.574.781.588|C10.668.758.725|C20.111.258.500|C23.888.852.130 CMS1A2, FORMERLY|CMS6|CMSEA|CMS Ia2, FORMERLY|Congenital myasthenic syndrome type 1a|Congenital Myasthenic Syndrome Type Ia|CONGENITAL MYASTHENIC SYNDROME TYPE Ia2, FORMERLY|FIM, FORMERLY|FIMG2, FORMERLY|Myasthenia familial infantile|Myasthenia, Familial Infantile|MYASTHENIA, FAMILIAL INFANTILE, FORMERLY|MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2, FORMERLY|MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC|Myasthenic syndrome congenital associated with episodic apnea|Myasthenic Syndrome, Congenital, Associated With Episodic Apnea|Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea Cancer|Immune system disease|Nervous system disease|Respiratory tract disease|Signs and symptoms CONGENITAL MYOPATHY 24 OMIM:617336 DO:DOID:0110933 MESH:D017696 C05.651.575.290/617336|C10.668.491.550.290/617336 C05.651.575.290|C10.668.491.550.290 CMYP4|NEM11|NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE Musculoskeletal disease|Nervous system disease CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT OMIM:161800 DO:DOID:0110927 MESH:C579880|MESH:D017696 C05.651.575.290/161800|C05.651.575/C579880/161800|C10.668.491.550.290/161800|C10.668.491.550/C579880/161800 C05.651.575.290|C05.651.575/C579880|C10.668.491.550.290|C10.668.491.550/C579880 CMYP2A|MYOPATHY, ACTIN, CONGENITAL, WITH CORES|MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS|NEM3|NEMALINE MYOPATHY 3|NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS Musculoskeletal disease|Nervous system disease CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT OMIM:608358 DO:DOID:0111269 MESH:C536624|MESH:C564253 C05.651.534.500.350/C536624/608358|C05.651/C564253/608358|C10.668.491.175.500.350/C536624/608358|C10.668.491/C564253/608358|C16.320.322.625/C536624/608358|C16.320.577.350/C536624/608358 C05.651.534.500.350/C536624|C05.651/C564253|C10.668.491.175.500.350/C536624|C10.668.491/C564253|C16.320.322.625/C536624|C16.320.577.350/C536624 CMYP7A|MSMA|MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT|MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT|MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS|SCAPULOPERONEAL MUSCULAR DYSTROPHY|SCAPULOPERONEAL MYOPATHY, MYH7-RELATED|SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE|SPMD|SPMM Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Congenital Nongoitrous Hypothyroidism MESH:C000603735 MESH:D003409 C05.116.099.343.347/C000603735|C05.116.132.256/C000603735|C16.320.240.625/C000603735|C19.297.155/C000603735|C19.874.482.281/C000603735 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 Pituitary cretinism Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Congenital Plasminogen Deficiency MESH:C580017 DO:DOID:0111592 MESH:D020147 C15.378.100.141/C580017 C15.378.100.141 Hypoplasminogenemia Blood disease Congenital pseudoarthrosis MESH:C535762 MESH:D011542 C26.404.468.627/C535762 C26.404.468.627 Wounds and injuries Congenital thrombotic disease, due to Protein C deficiency MESH:C535424 OMIM:176860 MESH:D020151 C15.378.100.100.690/C535424|C15.378.147.880/C535424|C15.378.925.795/C535424|C16.320.099.690/C535424 C15.378.100.100.690|C15.378.147.880|C15.378.925.795|C16.320.099.690 PROC deficiency|PROC DEFICIENCY, AUTOSOMAL DOMINANT PROTEIN C DEFICIENCY, ACQUIRED, INCLUDED|PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT|THPH3|THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT|Thrombophilia, hereditary, due to pc deficiency Blood disease|Genetic disease (inborn) Congenital torticollis MESH:C535425 MESH:D014103 C23.888.592.350.300.800/C535425 C23.888.592.350.300.800 Congenital muscular torticollis|Familial spasmodic torticollis|Familial torticollis|Torticollis, congenital|Torticollis, familial Signs and symptoms Congenital tracheal stenosis MESH:C000715347 MESH:D014135 C08.907.663/C000715347 C08.907.663 Respiratory tract disease Congenital tracheomalacia MESH:C557675 DO:DOID:0060313 MESH:D055090 C05.182.895.500/C557675|C08.907.796.500/C557675|C16.131.621.953.500/C557675|C17.300.182.895.500/C557675 C05.182.895.500|C08.907.796.500|C16.131.621.953.500|C17.300.182.895.500 Tracheomalacia, congenital|Type 1 tracheomalacia Congenital abnormality|Connective tissue disease|Musculoskeletal disease|Respiratory tract disease Conjunctival Diseases MESH:D003229 DO:DOID:4251 Diseases involving the CONJUNCTIVA. MESH:D005128 C11.187 C11 Conjunctival Disease|Disease, Conjunctival|Diseases, Conjunctival Eye disease Conjunctival Neoplasms MESH:D003230 DO:DOID:5467 Tumors or cancer of the CONJUNCTIVA. MESH:D003229|MESH:D005134 C04.588.364.235|C11.187.169|C11.319.217 C04.588.364|C11.187|C11.319 Conjunctival Neoplasm|Neoplasm, Conjunctival|Neoplasms, Conjunctival Cancer|Eye disease Conjunctivitis MESH:D003231 DO:DOID:6195 INFLAMMATION of the CONJUNCTIVA. MESH:D003229 C11.187.183 C11.187 Conjunctivitides|Pink Eye|Pink Eyes Eye disease Conjunctivitis, Acute Hemorrhagic MESH:D003232 DO:DOID:11227 A highly contagious disease characterized by subconjunctival hemorrhage, sudden swelling of the eyelids and congestion, redness, and pain in the eye. Epidemic conjunctivitis caused by Enterovirus 70 (EV-70) was first described in Africa in 1969. It is caused also by Coxsackievirus A24 variant (CA24v). Epidemics by this organism have appeared most frequently in Asia. MESH:D003236|MESH:D004769 C01.375.725.250.250|C01.925.325.250.250|C01.925.782.687.359.201|C11.187.183.240.216|C11.294.800.250.250 C01.375.725.250|C01.925.325.250|C01.925.782.687.359|C11.187.183.240|C11.294.800.250 Acute Hemorrhagic Conjunctivitides|Acute Hemorrhagic Conjunctivitis|Conjunctivitides, Acute Hemorrhagic|Hemorrhagic Conjunctivitides, Acute|Hemorrhagic Conjunctivitis, Acute Eye disease|Viral disease Conjunctivitis, Allergic MESH:D003233 DO:DOID:11204|DO:DOID:2457|DO:DOID:2474 Conjunctivitis due to hypersensitivity to various allergens. MESH:D003231|MESH:D006969 C11.187.183.200|C20.543.480.200 C11.187.183|C20.543.480 Allergic Conjunctivitides|Allergic Conjunctivitis|Atopic Conjunctivitides|Atopic Conjunctivitis|Conjunctivitides, Allergic|Conjunctivitides, Atopic|Conjunctivitides, Giant Papillary|Conjunctivitides, Vernal|Conjunctivitis, Atopic|Conjunctivitis, Giant Papillary|Conjunctivitis, Vernal|Giant Papillary Conjunctivitides|Giant Papillary Conjunctivitis|Keratoconjunctivitides, Vernal|Keratoconjunctivitis, Vernal|Papillary Conjunctivitides, Giant|Papillary Conjunctivitis, Giant|Vernal Conjunctivitides|Vernal Conjunctivitis|Vernal Keratoconjunctivitides|Vernal Keratoconjunctivitis Eye disease|Immune system disease Conjunctivitis, Bacterial MESH:D003234 DO:DOID:9700 Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia. MESH:D003231|MESH:D015818 C01.150.252.289.225|C01.375.354.220|C11.187.183.220|C11.294.354.220 C01.150.252.289|C01.375.354|C11.187.183|C11.294.354 Bacterial Conjunctivitides|Bacterial Conjunctivitis|Conjunctivitides, Bacterial|Conjunctivitides, Mucopurulent|Conjunctivitides, Purulent|Conjunctivitis, Mucopurulent|Conjunctivitis, Purulent|Mucopurulent Conjunctivitides|Mucopurulent Conjunctivitis|Purulent Conjunctivitides|Purulent Conjunctivitis Bacterial infection or mycosis|Eye disease Conjunctivitis, Inclusion MESH:D003235 DO:DOID:13800 An infection of the eyes characterized by the presence in conjunctival epithelial cells of inclusion bodies indistinguishable from those of trachoma. It is acquired by infants during birth and by adults from swimming pools. The etiological agent is CHLAMYDIA TRACHOMATIS whose natural habitat appears to be the genito-urinary tract. Inclusion conjunctivitis is a less severe disease than trachoma and usually clears up spontaneously. MESH:D002690|MESH:D003234 C01.150.252.289.225.250|C01.150.252.400.210.125.245|C01.375.354.220.250|C11.187.183.220.250|C11.294.354.220.250 C01.150.252.289.225|C01.150.252.400.210.125|C01.375.354.220|C11.187.183.220|C11.294.354.220 Blennorrhea, Inclusion|Blennorrheas, Inclusion|Conjunctivitides, Inclusion|Inclusion Blennorrhea|Inclusion Blennorrheas|Inclusion Conjunctivitides|Inclusion Conjunctivitis Bacterial infection or mycosis|Eye disease Conjunctivitis, Viral MESH:D003236 Inflammation, often mild, of the conjunctiva caused by a variety of viral agents. Conjunctival involvement may be part of a systemic infection. MESH:D003231|MESH:D015828 C01.375.725.250|C01.925.325.250|C11.187.183.240|C11.294.800.250 C01.375.725|C01.925.325|C11.187.183|C11.294.800 Conjunctivitides, Viral|Viral Conjunctivitides|Viral Conjunctivitis Eye disease|Viral disease Connective Tissue Diseases MESH:D003240 DO:DOID:65 A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides. MESH:D017437 C17.300 C17 Connective Tissue Disease|Disease, Connective Tissue|Diseases, Connective Tissue Connective tissue disease Connective Tissue Nevus MESH:C562737 MESH:D009506 C04.557.665.560/C562737 C04.557.665.560 Cancer Conotruncal cardiac defects MESH:C535464 MESH:D006330 C14.240.400/C535464|C14.280.400/C535464|C16.131.240.400/C535464 C14.240.400|C14.280.400|C16.131.240.400 Conotruncal heart malformations Cardiovascular disease|Congenital abnormality CONOTRUNCAL HEART MALFORMATIONS OMIM:217095 DO:DOID:6406 MESH:C535464|MESH:D004310|MESH:D014339 C14.240.400.560.098.500/217095|C14.240.400.560.540.500/217095|C14.240.400.915.300/217095|C14.240.400/C535464/217095|C14.280.400.560.098.500/217095|C14.280.400.560.540.500/217095|C14.280.400.915.300/217095|C14.280.400/C535464/217095|C16.131.240.400.560.098.500/217095|C16.131.240.400.560.540.500/217095|C16.131.240.400.915.300/217095|C16.131.240.400/C535464/217095 C14.240.400.560.098.500|C14.240.400.560.540.500|C14.240.400.915.300|C14.240.400/C535464|C14.280.400.560.098.500|C14.280.400.560.540.500|C14.280.400.915.300|C14.280.400/C535464|C16.131.240.400.560.098.500|C16.131.240.400.560.540.500|C16.131.240.400.915.300|C16.131.240.400/C535464 CAFS, INCLUDED|CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED|CTHM|DORV, INCLUDED|DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED|INTERRUPTED AORTIC ARCH, INCLUDED|PERSISTENT TRUNCUS ARTERIOSUS, INCLUDED|PTA, INCLUDED|TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED Cardiovascular disease|Congenital abnormality Consciousness Disorders MESH:D003244 Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition. MESH:D019954|MESH:D019965 C10.597.606.358|C23.888.592.604.359|F03.615.300 C10.597.606|C23.888.592.604|F03.615 Altered Level of Consciousness|Consciousness Disorder|Consciousness, Level Altered|Consciousness, Level Depressed|Depressed Level of Consciousness|Disorder of Consciousness|Disorders of Consciousness|Semiconsciousness Mental disorder|Nervous system disease|Signs and symptoms Constipation MESH:D003248 Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections. MESH:D012817 C23.888.821.150 C23.888.821 Colonic Inertia|Dyschezia Signs and symptoms Constriction, Pathologic MESH:D003251 The condition of an anatomical structure's being constricted beyond normal dimensions. MESH:D020763 C23.300.287 C23.300 Constriction, Pathological|Constrictions, Pathologic|Pathological Constriction|Pathologic Constriction|Pathologic Constrictions|Stenoses|Stenosis|Stricture|Strictures Pathology (anatomical condition) Contiguous Abcd1-Dxs1375e Deletion Syndrome MESH:C564508 OMIM:300475 MESH:D000015|MESH:D025063 C16.131.077/C564508|C16.131.260/C564508|C16.320.180/C564508 C16.131.077|C16.131.260|C16.320.180 CADDS, INCLUDED|CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED|DDCH|DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION Congenital abnormality|Genetic disease (inborn) Continuous diaphragm sign MESH:C000721367 MESH:D011026 C14.280.763/C000721367 C14.280.763 Cardiovascular disease Continuous Muscle Fiber Activity, Hereditary MESH:C563545 MESH:D020385 C10.597.613.650/C563545|C23.888.592.608.650/C563545 C10.597.613.650|C23.888.592.608.650 Nervous system disease|Signs and symptoms Contracture MESH:D003286 Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. MESH:D007592|MESH:D009135 C05.550.323|C05.651.197 C05.550|C05.651 Contractures Musculoskeletal disease Contractures, Congenital, Torticollis, and Malignant Hyperthermia MESH:C565679 MESH:D003286|MESH:D008305|MESH:D009056|MESH:D014103 C05.550.323/C565679|C05.651.197/C565679|C07.465.525/C565679|C07.650.525/C565679|C16.131.850.525/C565679|C23.550.505.700/C565679|C23.550.767.600/C565679|C23.888.119.455.500/C565679|C23.888.592.350.300.800/C565679 C05.550.323|C05.651.197|C07.465.525|C07.650.525|C16.131.850.525|C23.550.505.700|C23.550.767.600|C23.888.119.455.500|C23.888.592.350.300.800 Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process)|Signs and symptoms Contractures ectodermal dysplasia cleft lip palate MESH:C535465 MESH:D001176|MESH:D002972|MESH:D004476|MESH:D006130 C05.500.460.185/C535465|C05.550.150/C535465|C05.651.102/C535465|C05.660.077/C535465|C05.660.207.540.460.185/C535465|C07.320.440.185/C535465|C07.465.525.185/C535465|C07.650.500.460.185/C535465|C07.650.525.185/C535465|C16.131.077.350/C535465|C16.131.621.077/C535465|C16.131.621.207.540.460.185/C535465|C16.131.831.350/C535465|C16.131.850.500.460.185/C535465|C16.131.850.525.185/C535465|C16.320.850.250/C535465|C17.800.804.350/C535465|C17.800.827.250/C535465|C23.550.393/C535465 C05.500.460.185|C05.550.150|C05.651.102|C05.660.077|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.077.350|C16.131.621.077|C16.131.621.207.540.460.185|C16.131.831.350|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.550.393 Arthrogryposis, ectodermal dysplasia, cleft lip-palate, and developmental delay Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Pathology (process)|Skin disease Contrecoup Injury MESH:D056886 An injury in which the damage is located on the opposite side of the primary impact site. A blow to the back of head which results in contrecoup injury to the frontal lobes of the brain is the most common type. MESH:D001924|MESH:D014947 C10.900.300.350.300.250|C26.224|C26.915.300.450.500.250|C26.974.382.200.250 C10.900.300.350.300|C26|C26.915.300.450.500|C26.974.382.200 Contre-coup Injuries|Contrecoup Injuries|Contre coup Injury|Contre-coup Injury|Injuries, Contre-coup|Injuries, Contrecoup|Injury, Contre-coup|Injury, Contrecoup Nervous system disease|Wounds and injuries Contusions MESH:D003288 Injuries resulting in hemorrhage, usually manifested in the skin. MESH:D014949 C26.974.250 C26.974 Bruise|Bruises|Contusion Wounds and injuries Convalescence MESH:D003289 The period of recovery following an illness. MESH:D020969 C23.550.291.562 C23.550.291 Convalescences Pathology (process) Conversion Disorder MESH:D003291 DO:DOID:1768 A disorder whose predominant feature is a loss or alteration in physical functioning that suggests a physical disorder but that is actually a direct expression of a psychological conflict or need. MESH:D013001 F03.875.300 F03.875 Astasia Abasia|Astasia-Abasia|Conversion Disorders|Conversion Hysteria|Conversion Neuroses|Conversion Neurosis|Conversion Reaction|Disorder, Functional Movement|Disorder, Functional Neurological|Functional Movement Disorder|Functional Movement Disorders|Functional Neurological Disorder|Functional Neurological Disorders|Hysteria, Conversion|Movement Disorder, Functional|Movement Disorders, Functional|Neurological Disorder, Functional|Neurological Disorders, Functional|Neuroses, Conversion|Neurosis, Conversion Mental disorder Convulsions, Benign Familial Infantile, 2 MESH:C565296 MESH:D013036 C10.228.140.490.375.760/C565296|C10.228.140.490.493.875/C565296 C10.228.140.490.375.760|C10.228.140.490.493.875 Seizures, Benign Familial Infantile, 2 Nervous system disease Convulsions, Benign Familial Infantile, 4 MESH:C567231 OMIM:612627 MESH:D020936 C10.228.140.490.370/C567231|C16.614.258/C567231 C10.228.140.490.370|C16.614.258 BFIC4|BFIS4|CONVULSIONS, BENIGN FAMILIAL INFANTILE, 4|Seizures, Benign Familial Infantile, 4 Infant-newborn disease|Nervous system disease Convulsions, Benign Familial Neonatal, 1, And-Or Myokymia MESH:C567744 MESH:D020936 C10.228.140.490.370/C567744|C16.614.258/C567744 C10.228.140.490.370|C16.614.258 Infant-newborn disease|Nervous system disease Convulsions, Benign Familial Neonatal, 1, Atypical Severe MESH:C567746 MESH:D020936 C10.228.140.490.370/C567746|C16.614.258/C567746 C10.228.140.490.370|C16.614.258 Infant-newborn disease|Nervous system disease Convulsions benign familial neonatal dominant form MESH:C535466 MESH:D020936 C10.228.140.490.370/C535466|C16.614.258/C535466 C10.228.140.490.370|C16.614.258 Autosomal dominant form of benign neonatal seizures|Benign familial neonatal seizures|Convulsions, Benign Familial Neonatal, 2|Epilepsy, Benign Neonatal, 2|Seizures, Benign Familial Neonatal Infant-newborn disease|Nervous system disease Convulsive Disorder, Familial, with Prenatal or Early Onset MESH:C565678 MESH:D008607|MESH:D009122|MESH:D009207|MESH:D012640 C10.597.350.500/C565678|C10.597.606.360/C565678|C10.597.613.550/C565678|C10.597.742/C565678|C23.888.592.350.500/C565678|C23.888.592.604.646/C565678|C23.888.592.608.550/C565678|C23.888.592.742/C565678|F03.625.539/C565678 C10.597.350.500|C10.597.606.360|C10.597.613.550|C10.597.742|C23.888.592.350.500|C23.888.592.604.646|C23.888.592.608.550|C23.888.592.742|F03.625.539 Mental disorder|Nervous system disease|Signs and symptoms Copper deficiency, familial benign MESH:C535468 MESH:D006201|MESH:D008661|MESH:D012628|MESH:D012640 C10.597.742/C535468|C16.320.565/C535468|C17.800.174.580/C535468|C17.800.329/C535468|C17.800.794.230/C535468|C17.800.815.580/C535468|C17.800.859.350/C535468|C18.452.648/C535468|C23.888.592.742/C535468 C10.597.742|C16.320.565|C17.800.174.580|C17.800.329|C17.800.794.230|C17.800.815.580|C17.800.859.350|C18.452.648|C23.888.592.742 Familial benign copper deficiency|Familial benign hypocupremia Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease Copper-Overload Cirrhosis MESH:C566858 MESH:D006527 C06.552.413/C566858|C10.228.140.079.493/C566858|C10.228.140.163.100.360/C566858|C10.228.662.400/C566858|C10.574.500.487/C566858|C16.320.400.361/C566858|C16.320.565.189.360/C566858|C16.320.565.618.403/C566858|C18.452.132.100.360/C566858|C18.452.648.189.360/C566858|C18.452.648.618.403/C566858 C06.552.413|C10.228.140.079.493|C10.228.140.163.100.360|C10.228.662.400|C10.574.500.487|C16.320.400.361|C16.320.565.189.360|C16.320.565.618.403|C18.452.132.100.360|C18.452.648.189.360|C18.452.648.618.403 Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Copper Toxicosis, Idiopathic MESH:C565846 MESH:D008103|MESH:D008664 C06.552.630/C565846|C16.320.565.618/C565846|C18.452.648.618/C565846|C23.550.355.412/C565846 C06.552.630|C16.320.565.618|C18.452.648.618|C23.550.355.412 Digestive system disease|Genetic disease (inborn)|Metabolic disease|Pathology (process) Coproporphyria MESH:C535469 MESH:D046349 C06.552.830.074/C535469|C16.320.850.742.074/C535469|C17.800.827.742.074/C535469|C18.452.811.400.074/C535469 C06.552.830.074|C16.320.850.742.074|C17.800.827.742.074|C18.452.811.400.074 Hereditary coproporphyria porphyria|Porphyria Hepatica, Coproporphyria|Porphyria hepatica II Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Coproporphyria, Hereditary MESH:D046349 DO:DOID:13269|OMIM:121300 An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS. MESH:D017094 C06.552.830.074|C16.320.850.742.074|C17.800.827.742.074|C18.452.811.400.074 C06.552.830|C16.320.850.742|C17.800.827.742|C18.452.811.400 Coproporphyrinogen Oxidase Deficiency|CPO DEFICIENCY|CPOX DEFICIENCY|CPX DEFICIENCY|Deficiency, Coproporphyrinogen Oxidase|HCP|Hereditary Coproporphyria Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease CoQ-responsive OXPHOS deficiency MESH:C535470 MESH:D007888|MESH:D056693 C10.228.140.163.100.412/C535470|C16.320.565.100.823/C535470|C16.320.565.189.412/C535470|C16.320.565.202.810.444/C535470|C18.452.132.100.412/C535470|C18.452.648.100.823/C535470|C18.452.648.189.412/C535470|C18.452.648.202.810.444/C535470|C18.452.660.520/C535470 C10.228.140.163.100.412|C16.320.565.100.823|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.100.823|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 Genetic disease (inborn)|Metabolic disease|Nervous system disease Coracoclavicular Joint, Anomalous MESH:C565161 MESH:D007592 C05.550/C565161 C05.550 Musculoskeletal disease Cornea guttata with anterior polar cataract MESH:C535471 MESH:D002386|MESH:D005642 C11.204.236.438/C535471|C11.270.162.438/C535471|C11.510.245/C535471|C16.320.290.162.410/C535471 C11.204.236.438|C11.270.162.438|C11.510.245|C16.320.290.162.410 Cornea Guttata with Anterior Polar Cataracts|Familial congenital cornea guttata with anterior polar cataracts Eye disease|Genetic disease (inborn) Corneal cerebellar syndrome MESH:C535472 MESH:D003317|MESH:D013132 C10.228.140.252.700/C535472|C10.228.854.787/C535472|C10.574.500.825/C535472|C11.204.236/C535472|C11.270.162/C535472|C16.320.290.162/C535472|C16.320.400.780/C535472 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C11.204.236|C11.270.162|C16.320.290.162|C16.320.400.780 Corneal-Cerebellar Syndrome|Corneal dystrophy with spinocerebellar degeneration|Der kaloustian Jarudi Khoury syndrome|Spinocerebellar degeneration and corneal dystrophy Eye disease|Genetic disease (inborn)|Nervous system disease Corneal Degeneration, Ribbonlike, with Deafness MESH:C565157 MESH:D003317|MESH:D003638 C09.218.458.341.186/C565157|C10.597.751.418.341.186/C565157|C11.204.236/C565157|C11.270.162/C565157|C16.320.290.162/C565157|C23.888.592.763.393.341.186/C565157 C09.218.458.341.186|C10.597.751.418.341.186|C11.204.236|C11.270.162|C16.320.290.162|C23.888.592.763.393.341.186 Band Keratopathy with Deafness Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Corneal Diseases MESH:D003316 DO:DOID:10124 Diseases of the cornea. MESH:D005128 C11.204 C11 Corneal Disease|Disease, Corneal|Diseases, Corneal Eye disease Corneal Dystrophies, Hereditary MESH:D003317 DO:DOID:12318|DO:DOID:2565|DO:DOID:2566 Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. MESH:D003316|MESH:D015785 C11.204.236|C11.270.162|C16.320.290.162 C11.204|C11.270|C16.320.290 Corneal Dystrophies|Corneal Dystrophy|Corneal Dystrophy, Hereditary|Corneal Granular Dystrophies|Corneal Granular Dystrophy|Corneal Macular Dystrophies|Corneal Macular Dystrophy|Corneal Stromal Dystrophies|Corneal Stromal Dystrophy|Dystrophy, Corneal|Dystrophy, Corneal Granular|Dystrophy, Corneal Macular|Dystrophy, Corneal Stromal|Dystrophy, Hereditary Corneal|Granular Dystrophy, Corneal|Groenouw Dystrophies|Groenouw's Dystrophies|Groenouws Dystrophies|Hereditary Corneal Dystrophies|Hereditary Corneal Dystrophy|Macular Dystrophy, Corneal|Stromal Dystrophies, Corneal|Stromal Dystrophy, Corneal Eye disease|Genetic disease (inborn) Corneal dystrophy and perceptive deafness MESH:C535473 DO:DOID:0111620|OMIM:217400 MESH:D003317|MESH:D006319 C09.218.458.341.887/C535473|C10.597.751.418.341.887/C535473|C11.204.236/C535473|C11.270.162/C535473|C16.320.290.162/C535473|C23.888.592.763.393.341.887/C535473 C09.218.458.341.887|C10.597.751.418.341.887|C11.204.236|C11.270.162|C16.320.290.162|C23.888.592.763.393.341.887 CDPD|CDPD1|Congenital corneal dystrophy, progressive sensorineural deafness|Corneal dystrophy and sensorineural deafness|Harboyan syndrome Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Corneal dystrophy Avellino type MESH:C535474 DO:DOID:0060444|OMIM:607541 MESH:D003317 C11.204.236/C535474|C11.270.162/C535474|C16.320.290.162/C535474 C11.204.236|C11.270.162|C16.320.290.162 ACD|Avellino corneal dystrophy|CDA|CGD2|Combined granular-lattice corneal dystrophies|Combined Granular-Lattice Corneal Dystrophy|Corneal Dystrophy, Avellino Type|Granular and lattice corneal dystrophies|Granular corneal dystrophy type 2|Granular Corneal Dystrophy, Type II|Granular-lattice (Avellino) corneal dystrophy Eye disease|Genetic disease (inborn) Corneal Dystrophy, Band-Shaped MESH:C562399 DO:DOID:11164 MESH:D003317 C11.204.236/C562399|C11.270.162/C562399|C16.320.290.162/C562399 C11.204.236|C11.270.162|C16.320.290.162 Band Keratopathy Eye disease|Genetic disease (inborn) Corneal Dystrophy, Central Type MESH:C563262 MESH:D003317 C11.204.236/C563262|C11.270.162/C563262|C16.320.290.162/C563262 C11.204.236|C11.270.162|C16.320.290.162 Central Cloudy Dystrophy of Francois Eye disease|Genetic disease (inborn) Corneal Dystrophy, Congenital Stromal MESH:C566452 DO:DOID:0060445|OMIM:610048 MESH:D003317 C11.204.236/C566452|C11.270.162/C566452|C16.320.290.162/C566452 C11.204.236|C11.270.162|C16.320.290.162 Congenital Hereditary Stromal Dystrophy of the Cornea|Congenital Stromal Corneal Dystrophy|Congenital Stromal Dystrophy of the Cornea|CSCD|Decorin-Associated Congenital Stromal Corneal Dystrophy|Dystrophia Corneae Parenchymatosa Congenita Eye disease|Genetic disease (inborn) Corneal Dystrophy, Crystalline, of Schnyder MESH:C535475 DO:DOID:0060456|OMIM:121800 MESH:D003317 C11.204.236/C535475|C11.270.162/C535475|C16.320.290.162/C535475 C11.204.236|C11.270.162|C16.320.290.162 Corneal dystrophy crystalline of Schnyder|CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER|CORNEAL DYSTROPHY, SCHNYDER|SCCD|Schnyder corneal dystrophy|Schnyder crystalline corneal dystrophy Eye disease|Genetic disease (inborn) Corneal Dystrophy, Endothelial, X-Linked MESH:C567587 DO:DOID:0060446|OMIM:300779 MESH:D003317 C11.204.236/C567587|C11.270.162/C567587|C16.320.290.162/C567587 C11.204.236|C11.270.162|C16.320.290.162 Endothelial Corneal Dystrophy, X-Linked|XECD Eye disease|Genetic disease (inborn) Corneal dystrophy, epithelial basement membrane MESH:C535477 DO:DOID:0060447|OMIM:121820 MESH:D055952 C10.292.910.299/C535477|C11.180/C535477|C14.907.940.320/C535477 C10.292.910.299|C11.180|C14.907.940.320 Cogan corneal dystrophy|Corneal dystrophy, anterior basement membrane|Corneal dystrophy, Cogan type|Corneal Dystrophy, Map-Dot-Fingerprint Type|Corneal Dystrophy, Microcystic|EBMD|Map-dot-fingerprint dystrophy of cornea|Microcystic dystrophy of the cornea Cardiovascular disease|Eye disease|Nervous system disease Corneal Dystrophy, Fleck MESH:C563256 DO:DOID:0060448|OMIM:121850 MESH:D003317 C11.204.236/C563256|C11.270.162/C563256|C16.320.290.162/C563256 C11.204.236|C11.270.162|C16.320.290.162 CFD|Corneal Dystrophy, Francois-Neetens Speckled or Flecked|FCD|Fleck Corneal Dystrophy Eye disease|Genetic disease (inborn) Corneal dystrophy, Fuchs' endothelial, 1 MESH:C535478 OMIM:136800 MESH:D005642 C11.204.236.438/C535478|C11.270.162.438/C535478|C16.320.290.162.410/C535478 C11.204.236.438|C11.270.162.438|C16.320.290.162.410 Corneal Dystrophy, Fuchs Endothelial, 1|Corneal dystrophy, Fuchs' endothelial, early-onset|Corneal Dystrophy, Fuchs Endothelial, Early-Onset|Dystrophia epithelialis corneae|Early-onset FECD Early-onset Fuchs' endothelial corneal dystrophy|FECD1|FECD1 Fuchs' endothelial corneal dystrophy 1|Fuchs' dystrophy|Fuchs' endothelial corneal dystrophy, early-onset Eye disease|Genetic disease (inborn) Corneal dystrophy, Fuchs' endothelial, 2 MESH:C535479 OMIM:610158 MESH:D005642 C11.204.236.438/C535479|C11.270.162.438/C535479|C16.320.290.162.410/C535479 C11.204.236.438|C11.270.162.438|C16.320.290.162.410 Corneal Dystrophy, Fuchs Endothelial, 2|Corneal dystrophy, Fuchs' endothelial, late-onset|CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FCD1 LOCUS|FECD2|Fuchs' endothelial corneal dystrophy 2|Late-onset Fuchs' endothelial corneal dystrophy Eye disease|Genetic disease (inborn) Corneal Dystrophy, Fuchs Endothelial, 3 MESH:C567678 OMIM:613267 MESH:D005642 C11.204.236.438/C567678|C11.270.162.438/C567678|C16.320.290.162.410/C567678 C11.204.236.438|C11.270.162.438|C16.320.290.162.410 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FCD2 LOCUS|FECD3 Eye disease|Genetic disease (inborn) Corneal Dystrophy, Fuchs Endothelial, 4 MESH:C567677 OMIM:613268 MESH:D005642 C11.204.236.438/C567677|C11.270.162.438/C567677|C16.320.290.162.410/C567677 C11.204.236.438|C11.270.162.438|C16.320.290.162.410 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FECD4 Eye disease|Genetic disease (inborn) Corneal Dystrophy, Fuchs Endothelial, 5 MESH:C567676 OMIM:613269 MESH:D005642 C11.204.236.438/C567676|C11.270.162.438/C567676|C16.320.290.162.410/C567676 C11.204.236.438|C11.270.162.438|C16.320.290.162.410 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FCD3 LOCUS|FECD5 Eye disease|Genetic disease (inborn) Corneal Dystrophy, Fuchs Endothelial, 6 MESH:C567675 OMIM:613270 MESH:D005642 C11.204.236.438/C567675|C11.270.162.438/C567675|C16.320.290.162.410/C567675 C11.204.236.438|C11.270.162.438|C16.320.290.162.410 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FECD6 Eye disease|Genetic disease (inborn) Corneal Dystrophy, Fuchs Endothelial, 7 MESH:C567674 OMIM:613271 MESH:D005642 C11.204.236.438/C567674|C11.270.162.438/C567674|C16.320.290.162.410/C567674 C11.204.236.438|C11.270.162.438|C16.320.290.162.410 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET|FCD4 LOCUS|FECD7 Eye disease|Genetic disease (inborn) CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 OMIM:615523 DO:DOID:11555 MESH:D005642 C11.204.236.438/615523|C11.270.162.438/615523|C16.320.290.162.410/615523 C11.204.236.438|C11.270.162.438|C16.320.290.162.410 FECD8 Eye disease|Genetic disease (inborn) Corneal dystrophy, gelatinous drop-like MESH:C535480 DO:DOID:0060449|OMIM:204870 MESH:D003317|MESH:D028226 C11.204.236/C535480|C11.270.162/C535480|C16.320.290.162/C535480|C16.320.565.176/C535480|C18.452.648.176/C535480|C18.452.845.500.075/C535480 C11.204.236|C11.270.162|C16.320.290.162|C16.320.565.176|C18.452.648.176|C18.452.845.500.075 Amyloid corneal dystrophy, Japanese type|Amyloidosis, corneal|CDGDL|Corneal amyloidosis|Corneal dystrophy, Lattice type 3|Corneal Dystrophy, Lattice Type III|GDLD|Gelatinous drop-like corneal dystrophy|Lattice corneal dystrophy type3|Lattice Corneal Dystrophy, Type III|Primary familial amyloidosis of the cornea Eye disease|Genetic disease (inborn)|Metabolic disease Corneal Dystrophy, Juvenile Epithelial of Meesmann MESH:D053559 DO:DOID:0060451|OMIM:122100 An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder. MESH:D003317 C11.204.236.218|C11.270.162.218|C16.320.290.162.204 C11.204.236|C11.270.162|C16.320.290.162 Corneal Dystrophies, Meesmann|CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN|Corneal Dystrophy, Meesmann|CORNEAL DYSTROPHY, MEESMANN, 1|Corneal Dystrophy, Meesmann Epithelial|Dystrophies, Meesmann Corneal|Juvenile Hereditary Epithelial Dystrophy|MECD|MECD1|Meesmann Corneal Dystrophies|Meesmann Corneal Dystrophy|Meesmann Corneal Epithelial Dystrophy|Meesmann Epithelial Corneal Dystrophy Eye disease|Genetic disease (inborn) Corneal Dystrophy, Lattice Type IIIA MESH:C563923 OMIM:608471 MESH:D003317 C11.204.236/C563923|C11.270.162/C563923|C16.320.290.162/C563923 C11.204.236|C11.270.162|C16.320.290.162 CDL3A|Lattice Corneal Dystrophy, Type IIIA Eye disease|Genetic disease (inborn) Corneal Dystrophy, Lisch Epithelial MESH:C567588 DO:DOID:0060450|OMIM:300778 MESH:D003317 C11.204.236/C567588|C11.270.162/C567588|C16.320.290.162/C567588 C11.204.236|C11.270.162|C16.320.290.162 Band-Shaped And Whorled Microcystic Corneal Epithelial Dystrophy|LECD|Lisch Epithelial Corneal Dystrophy Eye disease|Genetic disease (inborn) Corneal dystrophy of Bowman layer, type 1 MESH:C535476 DO:DOID:0060453|OMIM:608470 MESH:D003317 C11.204.236/C535476|C11.270.162/C535476|C16.320.290.162/C535476 C11.204.236|C11.270.162|C16.320.290.162 CDB1|CDRB|Corneal dystrophy, geographic|Corneal Dystrophy Of Bowman Layer, Type I|Corneal dystrophy, Reis-Bucklers type|Granular Corneal Dystrophy, Type III|RBCD|Reis-Bucklers corneal dystrophy|Reis-Bucklers dystrophy Eye disease|Genetic disease (inborn) Corneal Dystrophy, Posterior Amorphous MESH:C567546 DO:DOID:0060452 MESH:D003317 C11.204.236/C567546|C11.270.162/C567546|C16.320.290.162/C567546 C11.204.236|C11.270.162|C16.320.290.162 Posterior Amorphous Corneal Dystrophy Eye disease|Genetic disease (inborn) Corneal Dystrophy, Posterior Polymorphous, 1 MESH:C562745 DO:DOID:0060457|OMIM:122000 MESH:D003317 C11.204.236/C562745|C11.270.162/C562745|C16.320.290.162/C562745 C11.204.236|C11.270.162|C16.320.290.162 CHED1, FORMERLY|Corneal Dystrophy, Hereditary Polymorphous Posterior|CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT, FORMERLY|MAUMENEE CORNEAL DYSTROPHY|Posterior Polymorphous Corneal Dystrophy|PPCD|PPCD1|Ppcd1 Posterior polymorphous corneal dystrophy 1 Eye disease|Genetic disease (inborn) Corneal Dystrophy, Posterior Polymorphous, 2 MESH:C565176 OMIM:609140 MESH:D003317 C11.204.236/C565176|C11.270.162/C565176|C16.320.290.162/C565176 C11.204.236|C11.270.162|C16.320.290.162 PPCD2 Eye disease|Genetic disease (inborn) Corneal Dystrophy, Posterior Polymorphous, 3 MESH:C563788 OMIM:609141 MESH:D003317 C11.204.236/C563788|C11.270.162/C563788|C16.320.290.162/C563788 C11.204.236|C11.270.162|C16.320.290.162 PPCD3 Eye disease|Genetic disease (inborn) Corneal Dystrophy, Subepithelial Mucinous MESH:C567547 DO:DOID:0060454 MESH:D003317 C11.204.236/C567547|C11.270.162/C567547|C16.320.290.162/C567547 C11.204.236|C11.270.162|C16.320.290.162 Subepithelial Mucinous Corneal Dystrophy Eye disease|Genetic disease (inborn) Corneal dystrophy, Thiel-Behnke type MESH:C535942 DO:DOID:0060455|OMIM:602082 MESH:D003317 C11.204.236/C535942|C11.270.162/C535942|C16.320.290.162/C535942 C11.204.236|C11.270.162|C16.320.290.162 CDB2|CDTB|Corneal dystrophy honeycomb-shaped|Corneal Dystrophy, Honeycomb-Shaped|Corneal Dystrophy Of Bowman Layer, Type II|Corneal dystrophy of the Bowman layer, type 2|TBCD|Thiel-Behnke corneal dystrophy Eye disease|Genetic disease (inborn) Corneal Edema MESH:D015715 DO:DOID:11030 An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity. MESH:D003316 C11.204.267 C11.204 Corneal Edemas|Edema, Corneal|Edemas, Corneal Eye disease Corneal Endothelial Cell Loss MESH:D055954 Loss of CORNEAL ENDOTHELIUM usually following intraocular surgery (e.g., cataract surgery) or due to FUCHS' ENDOTHELIAL DYSTROPHY; ANGLE-CLOSURE GLAUCOMA; IRITIS; or aging. MESH:D003316|MESH:D005132|MESH:D011183 C11.204.278|C11.300.250|C23.550.767.093|C23.888.307.250 C11.204|C11.300|C23.550.767|C23.888.307 Corneal Endothelial Cell Damage|Endothelial Cell Loss, Corneal Eye disease|Pathology (process)|Signs and symptoms Corneal Endothelial Dystrophy 1 MESH:C565156 MESH:D003317 C11.204.236/C565156|C11.270.162/C565156|C16.320.290.162/C565156 C11.204.236|C11.270.162|C16.320.290.162 Eye disease|Genetic disease (inborn) Corneal endothelial dystrophy type 2 MESH:C536439 OMIM:217700 MESH:D003317 C11.204.236/C536439|C11.270.162/C536439|C16.320.290.162/C536439 C11.204.236|C11.270.162|C16.320.290.162 CHED|CHED2 Congenital hereditary endothelial dystrophy of the cornea 2|CHED2, FORMERLY|CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA|Congenital hereditary endothelial dystrophy of the cornea|Corneal dystrophy, congenital hereditary endothelial|CORNEAL ENDOTHELIAL DYSTROPHY|Corneal Endothelial Dystrophy 2|CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE, FORMERLY|Maumenee corneal dystrophy Eye disease|Genetic disease (inborn) Corneal hypesthesia, familial MESH:C536440 MESH:D003316|MESH:D006987 C10.597.751.791.500/C536440|C11.204/C536440|C23.888.592.763.770.500/C536440 C10.597.751.791.500|C11.204|C23.888.592.763.770.500 Trigeminal anesthesia, familial Eye disease|Nervous system disease|Signs and symptoms Corneal Injuries MESH:D065306 Damage or trauma inflicted to the CORNEA by external means. MESH:D003316|MESH:D005131 C10.900.300.284.250.124|C11.204.284|C11.297.374|C26.915.300.425.250.124 C10.900.300.284.250|C11.204|C11.297|C26.915.300.425.250 Abrasion, Corneal|Cornea Injuries|Cornea Injury|Corneal Abrasion|Corneal Abrasions|Corneal Damage|Corneal Damages|Corneal Injury|Corneal Scar|Corneal Scars|Corneal Trauma|Corneal Traumas|Damage, Corneal|Injury, Cornea|Injury, Corneal|Scar, Corneal|Trauma, Corneal Eye disease|Nervous system disease|Wounds and injuries Corneal Neovascularization MESH:D016510 DO:DOID:11382 New blood vessels originating from the corneal blood vessels and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION. MESH:D003316|MESH:D009389 C11.204.290|C23.550.589.500.435 C11.204|C23.550.589.500 Angiogenesis, Corneal|Corneal Angiogenesis|Corneal Neovascularizations|Neovascularization, Corneal|Neovascularizations, Corneal Eye disease|Pathology (process) Corneal Opacity MESH:D003318 Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque. MESH:D003316 C11.204.299 C11.204 Corneal Opacities|Leukoma|Leukomas|Opacities, Corneal|Opacity, Corneal Eye disease Corneal Perforation MESH:D057112 A puncture or hole through the CORNEAL STROMA resulting from various diseases or trauma. MESH:D065306 C10.900.300.284.250.124.500|C11.204.284.500|C11.297.374.500|C26.915.300.425.250.124.500 C10.900.300.284.250.124|C11.204.284|C11.297.374|C26.915.300.425.250.124 Corneal Perforations|Perforation, Corneal|Perforations, Corneal Eye disease|Nervous system disease|Wounds and injuries Corneal Ulcer MESH:D003320 DO:DOID:8463 Loss of epithelial tissue from the surface of the cornea due to progressive erosion and necrosis of the tissue; usually caused by bacterial, fungal, or viral infection. MESH:D007634|MESH:D015817 C01.375.177|C11.204.564.225|C11.294.177 C01.375|C11.204.564|C11.294 Keratitides, Ulcerative|Keratitis, Ulcerative|Ulcerative Keratitides|Ulcerative Keratitis|Ulcer, Corneal Eye disease Corneal Wavefront Aberration MESH:D057108 Asymmetries in the topography and refractive index of the corneal surface that affect visual acuity. MESH:D003316|MESH:D012030 C11.204.431|C11.744.345 C11.204|C11.744 Aberration, Corneal Wavefront|Aberrations, Corneal Wavefront|Corneal Wavefront Aberrations|Wavefront Aberration, Corneal|Wavefront Aberrations, Corneal Eye disease Cornea Plana 1 MESH:C565158 OMIM:121400 MESH:D003316|MESH:D015785 C11.204/C565158|C11.270/C565158|C16.320.290/C565158 C11.204|C11.270|C16.320.290 CNA1|CORNEA PLANA 1, AUTOSOMAL DOMINANT Eye disease|Genetic disease (inborn) Cornea Plana 2 MESH:C565677 OMIM:217300 MESH:D003316|MESH:D015785 C11.204/C565677|C11.270/C565677|C16.320.290/C565677 C11.204|C11.270|C16.320.290 CNA2|CORNEA PLANA 2, AUTOSOMAL RECESSIVE Eye disease|Genetic disease (inborn) Corneodermatoosseous syndrome MESH:C536444 MESH:D003317|MESH:D007645|MESH:D038061 C05.660.585.512/C536444|C11.204.236/C536444|C11.270.162/C536444|C16.131.621.585.512/C536444|C16.320.290.162/C536444|C16.320.850.475/C536444|C17.800.428.435/C536444|C17.800.827.475/C536444 C05.660.585.512|C11.204.236|C11.270.162|C16.131.621.585.512|C16.320.290.162|C16.320.850.475|C17.800.428.435|C17.800.827.475 CDO syndrome|Corneal dystrophy epithelial and short stature|Corneal dystrophy, epithelial, with skin and skeletal changes Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Coronal synostosis, syndactyly and jejunal atresia MESH:C536445 MESH:D007409|MESH:D013580 C05.116.099.370.894/C536445|C05.660.906/C536445|C06.198.719/C536445|C06.405.469.445/C536445|C16.131.314.466/C536445|C16.131.621.906/C536445 C05.116.099.370.894|C05.660.906|C06.198.719|C06.405.469.445|C16.131.314.466|C16.131.621.906 Congenital abnormality|Digestive system disease|Musculoskeletal disease Coronary Aneurysm MESH:D003323 DO:DOID:3362 Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE. MESH:D000783|MESH:D003327 C14.280.647.250.250|C14.907.055.395|C14.907.585.250.250 C14.280.647.250|C14.907.055|C14.907.585.250 Aneurysm, Coronary|Aneurysms, Coronary|Coronary Aneurysms Cardiovascular disease Coronary Artery Disease MESH:D003324 DO:DOID:3393 Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause. MESH:D001161|MESH:D003327 C14.280.647.250.260|C14.907.137.126.339|C14.907.585.250.260 C14.280.647.250|C14.907.137.126|C14.907.585.250 Arterioscleroses, Coronary|Arteriosclerosis, Coronary|Artery Disease, Coronary|Artery Diseases, Coronary|Atheroscleroses, Coronary|Atherosclerosis, Coronary|Coronary Arterioscleroses|Coronary Arteriosclerosis|Coronary Artery Diseases|Coronary Atheroscleroses|Coronary Atherosclerosis|Left Main Coronary Artery Disease|Left Main Coronary Disease|Left Main Disease|Left Main Diseases Cardiovascular disease Coronary Artery Disease, Autosomal Dominant, 1 MESH:C564258 OMIM:608320 MESH:D003324|MESH:D009203 C14.280.647.250.260/C564258|C14.280.647.500/C564258|C14.907.137.126.339/C564258|C14.907.585.250.260/C564258|C14.907.585.500/C564258|C23.550.513.355.750/C564258|C23.550.717.489.750/C564258 C14.280.647.250.260|C14.280.647.500|C14.907.137.126.339|C14.907.585.250.260|C14.907.585.500|C23.550.513.355.750|C23.550.717.489.750 ADCAD1|Coronary Artery Disease With Myocardial Infarction Cardiovascular disease|Pathology (process) Coronary Artery Disease, Autosomal Dominant 2 MESH:C567045 OMIM:610947 MESH:D003324|MESH:D009203 C14.280.647.250.260/C567045|C14.280.647.500/C567045|C14.907.137.126.339/C567045|C14.907.585.250.260/C567045|C14.907.585.500/C567045|C23.550.513.355.750/C567045|C23.550.717.489.750/C567045 C14.280.647.250.260|C14.280.647.500|C14.907.137.126.339|C14.907.585.250.260|C14.907.585.500|C23.550.513.355.750|C23.550.717.489.750 ADCAD2 Cardiovascular disease|Pathology (process) Coronary Artery Disease, Development of, in HIV MESH:C563569 MESH:D003324|MESH:D015658 C01.221.250.875/C563569|C01.221.812.640.400/C563569|C01.778.640.400/C563569|C01.925.782.815.616.400/C563569|C01.925.813.400/C563569|C12.100.937.640.400/C563569|C14.280.647.250.260/C563569|C14.907.137.126.339/C563569|C14.907.585.250.260/C563569|C20.673.480/C563569 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C12.100.937.640.400|C14.280.647.250.260|C14.907.137.126.339|C14.907.585.250.260|C20.673.480 Cardiovascular disease|Immune system disease|Viral disease Coronary Artery Dissection, Spontaneous MESH:C565153 MESH:D003330|MESH:D014652 C14.240.400.210/C565153|C14.280.400.210/C565153|C14.907/C565153|C16.131.240.400.210/C565153 C14.240.400.210|C14.280.400.210|C14.907|C16.131.240.400.210 Cardiovascular disease|Congenital abnormality Coronary Disease MESH:D003327 DO:DOID:3393|OMIM:300464|OMIM:607339|OMIM:608316|OMIM:608318|OMIM:608901|OMIM:610938|OMIM:611139|OMIM:612030|OMIM:614466 An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. MESH:D017202 C14.280.647.250|C14.907.585.250 C14.280.647|C14.907.585 CHDS1|CHDS2|CHDS3|CHDS4|CHDS5|CHDS6|CHDS7|CHDS8|CHDS9|CORONARY ARTERY DISEASE, EARLY-ONSET|Coronary Diseases|Coronary Heart Disease|Coronary Heart Diseases|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8|CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9|Disease, Coronary|Disease, Coronary Heart|Diseases, Coronary|Diseases, Coronary Heart|Heart Disease, Coronary|Heart Diseases, Coronary Cardiovascular disease Coronary Occlusion MESH:D054059 Complete blockage of blood flow through one of the CORONARY ARTERIES, usually from CORONARY ATHEROSCLEROSIS. MESH:D003327 C14.280.647.250.272|C14.907.585.250.272 C14.280.647.250|C14.907.585.250 Coronary Occlusions|Occlusion, Coronary|Occlusions, Coronary Cardiovascular disease Coronary Restenosis MESH:D023903 DO:DOID:4247 Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction. MESH:D023921 C14.280.647.250.285.200|C14.907.585.250.285.200 C14.280.647.250.285|C14.907.585.250.285 Coronary Restenoses|Restenoses, Coronary|Restenosis, Coronary Cardiovascular disease Coronary Sclerosis, Medial, of Infancy MESH:C565944 MESH:D002114|MESH:D003324 C14.280.647.250.260/C565944|C14.907.137.126.339/C565944|C14.907.585.250.260/C565944|C18.452.174.130/C565944 C14.280.647.250.260|C14.907.137.126.339|C14.907.585.250.260|C18.452.174.130 Cardiovascular disease|Metabolic disease Coronary Stenosis MESH:D023921 DO:DOID:4248 Narrowing or constriction of a coronary artery. MESH:D003327 C14.280.647.250.285|C14.907.585.250.285 C14.280.647.250|C14.907.585.250 Artery Stenoses, Coronary|Artery Stenosis, Coronary|Coronary Artery Stenoses|Coronary Artery Stenosis|Coronary Stenoses|Stenoses, Coronary|Stenoses, Coronary Artery|Stenosis, Coronary|Stenosis, Coronary Artery Cardiovascular disease Coronary-Subclavian Steal Syndrome MESH:D058686 A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution. MESH:D003327|MESH:D011183 C14.280.647.250.647|C14.907.585.250.647|C23.550.767.115 C14.280.647.250|C14.907.585.250|C23.550.767 Coronary Subclavian Steal Syndrome|Syndrome, Coronary-Subclavian Steal|Syndromes, Coronary-Subclavian Steal Cardiovascular disease|Pathology (process) Coronary Thrombosis MESH:D003328 DO:DOID:11847 Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION. MESH:D003327|MESH:D013927 C14.280.647.250.290|C14.907.355.830.220|C14.907.585.250.290 C14.280.647.250|C14.907.355.830|C14.907.585.250 Coronary Thromboses|Thromboses, Coronary|Thrombosis, Coronary Cardiovascular disease Coronary Vasospasm MESH:D003329 DO:DOID:11840 Spasm of the large- or medium-sized coronary arteries. MESH:D003327 C14.280.647.250.295|C14.907.585.250.295 C14.280.647.250|C14.907.585.250 Artery Spasm, Coronary|Artery Vasospasm, Coronary|Coronary Artery Spasm|Coronary Artery Spasms|Coronary Artery Vasospasm|Coronary Artery Vasospasms|Coronary Vasospasms|Spasm, Coronary Artery|Vasospasm, Coronary|Vasospasm, Coronary Artery Cardiovascular disease Coronary Vessel Anomalies MESH:D003330 Malformations of CORONARY VESSELS, either arteries or veins. Included are anomalous origins of coronary arteries; ARTERIOVENOUS FISTULA; CORONARY ANEURYSM; MYOCARDIAL BRIDGING; and others. MESH:D006330 C14.240.400.210|C14.280.400.210|C16.131.240.400.210 C14.240.400|C14.280.400|C16.131.240.400 Anomaly, Coronary Vessel|Coronary Vessel Anomaly Cardiovascular disease|Congenital abnormality Coronaviridae Infections MESH:D003333 OMIM:122460 Virus diseases caused by CORONAVIRIDAE. MESH:D030341 C01.925.782.600.550 C01.925.782.600 Coronaviridae Infection|CORONAVIRUS 229E SUSCEPTIBILITY|CVS|HCVS|HUMAN CORONAVIRUS SENSITIVITY|Infection, Coronaviridae|Infections, Coronaviridae Viral disease Coronavirus Infections MESH:D018352 Virus diseases caused by the CORONAVIRUS genus. Some specifics include transmissible enteritis of turkeys (ENTERITIS, TRANSMISSIBLE, OF TURKEYS); FELINE INFECTIOUS PERITONITIS; and transmissible gastroenteritis of swine (GASTROENTERITIS, TRANSMISSIBLE, OF SWINE). MESH:D003333 C01.925.782.600.550.200 C01.925.782.600.550 Coronavirus Infection|Infection, Coronavirus|Infections, Coronavirus|MERS (Middle East Respiratory Syndrome)|Middle East Respiratory Syndrome Viral disease Corpse Dismemberment MESH:D056146 Disjoining the limbs or other parts of a corpse, often in association with criminal acts. MESH:D002102|MESH:D014950 C23.550.260.224.200|C26.986.111 C23.550.260.224|C26.986 Cadaver Dismemberment|Cadaver Dismemberments|Corpse Dismemberments|Dismemberment, Cadaver|Dismemberment, Corpse|Dismemberments, Cadaver|Dismemberments, Corpse Pathology (process)|Wounds and injuries Corpus callosum agenesis neuronopathy MESH:C536446 OMIM:218000 MESH:D010523|MESH:D061085 C10.500.034/C536446|C10.668.829/C536446|C16.131.666.034/C536446|C23.300.008/C536446 C10.500.034|C10.668.829|C16.131.666.034|C23.300.008 ACCPN|Agenesis of Corpus Callosum with Neuronopathy|Agenesis of Corpus Callosum with Peripheral Neuropathy|Agenesis of Corpus Callosum with Polyneuropathy|Agenesis of the corpus callosum with peripheral neuropathy|Andermann syndrome|Charlevoix disease|Corpus Callosum, Agenesis of, with Neuronopathy|Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum|Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum Congenital abnormality|Nervous system disease|Pathology (anatomical condition) CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA OMIM:616819 MESH:D002524|MESH:D019465|MESH:D061085 C05.660.207/616819|C10.228.140.252.190/616819|C10.500.034/616819|C10.597.350.090.500/616819|C16.131.621.207/616819|C16.131.666.034/616819|C23.300.008/616819|C23.888.592.350.090.200/616819 C05.660.207|C10.228.140.252.190|C10.500.034|C10.597.350.090.500|C16.131.621.207|C16.131.666.034|C23.300.008|C23.888.592.350.090.200 BIRK-FLUSSER SYNDROME|CCAFCA Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence MESH:C563127 MESH:D006330|MESH:D010855|MESH:D014564|MESH:D017880|MESH:D019465|MESH:D061085 C05.500.460.606/C563127|C05.660.207.540.460.606/C563127|C05.660.207/C563127|C05.660.585/C563127|C07.320.440.606/C563127|C07.650.500.460.606/C563127|C10.500.034/C563127|C12.050.351.875/C563127|C12.200.706/C563127|C12.800/C563127|C14.240.400/C563127|C14.280.400/C563127|C16.131.240.400/C563127|C16.131.621.207.540.460.606/C563127|C16.131.621.207/C563127|C16.131.621.585/C563127|C16.131.666.034/C563127|C16.131.850.500.460.606/C563127|C16.131.939/C563127|C23.300.008/C563127 C05.500.460.606|C05.660.207|C05.660.207.540.460.606|C05.660.585|C07.320.440.606|C07.650.500.460.606|C10.500.034|C12.050.351.875|C12.200.706|C12.800|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207|C16.131.621.207.540.460.606|C16.131.621.585|C16.131.666.034|C16.131.850.500.460.606|C16.131.939|C23.300.008 Toriello-Carey Syndrome Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia MESH:C564509 OMIM:300472 MESH:D003103|MESH:D008607|MESH:D008844|MESH:D061085 C05.500.460.457/C564509|C05.660.207.540.460.457/C564509|C07.320.440.457/C564509|C07.650.500.460.457/C564509|C10.500.034/C564509|C10.597.606.360/C564509|C11.250.110/C564509|C11.270.147/C564509|C16.131.384.282/C564509|C16.131.621.207.540.460.457/C564509|C16.131.666.034/C564509|C16.131.850.500.460.457/C564509|C23.300.008/C564509|C23.888.592.604.646/C564509|F03.625.539/C564509 C05.500.460.457|C05.660.207.540.460.457|C07.320.440.457|C07.650.500.460.457|C10.500.034|C10.597.606.360|C11.250.110|C11.270.147|C16.131.384.282|C16.131.621.207.540.460.457|C16.131.666.034|C16.131.850.500.460.457|C23.300.008|C23.888.592.604.646|F03.625.539 CORPUS CALLOSUM, AGENESIS OF, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, OCULAR COLOBOMA, AND MICROGNATHIA|INTELLECTUAL DEVELOPMENT DISORDER, X-LINKED, SYNDROMIC 28|MENTAL RETARDATION, X-LINKED, SYNDROMIC 28|MRXS28 Congenital abnormality|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Corpus Callosum, Partial Agenesis of, X-Linked MESH:C564115 OMIM:304100 MESH:D040181|MESH:D061085 C10.500.034/C564115|C16.131.666.034/C564115|C16.320.322/C564115|C23.300.008/C564115 C10.500.034|C16.131.666.034|C16.320.322|C23.300.008 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition) Cortical Blindness, Retardation, and Postaxial Polydactyly MESH:C565674 MESH:D008607|MESH:D017689|MESH:D019066|MESH:D019575 C05.660.585.600/C565674|C10.597.606.360/C565674|C10.597.751.941.162.250/C565674|C11.966.075.250/C565674|C16.131.621.585.600/C565674|C23.550.291.812/C565674|C23.888.592.604.646/C565674|C23.888.592.763.941.162.250/C565674|F03.625.539/C565674 C05.660.585.600|C10.597.606.360|C10.597.751.941.162.250|C11.966.075.250|C16.131.621.585.600|C23.550.291.812|C23.888.592.604.646|C23.888.592.763.941.162.250|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta MESH:C565734 MESH:D001848|MESH:D003811 C05.116.099/C565734|C07.650.800.270/C565734|C07.793.700.270/C565734|C16.131.850.800.270/C565734 C05.116.099|C07.650.800.270|C07.793.700.270|C16.131.850.800.270 Congenital abnormality|Mouth disease|Musculoskeletal disease CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 OMIM:614039 DO:DOID:0090137 MESH:D054220 C10.500.507/614039|C16.131.666.507/614039 C10.500.507|C16.131.666.507 CDCBM1 Congenital abnormality|Nervous system disease CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 OMIM:614563 DO:DOID:0070043 MESH:D008607|MESH:D054220 C10.500.507/614563|C10.597.606.360/614563|C16.131.666.507/614563|C23.888.592.604.646/614563|F03.625.539/614563 C10.500.507|C10.597.606.360|C16.131.666.507|C23.888.592.604.646|F03.625.539 CDCBM13|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13, FORMERLY|MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, FORMERLY|MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION DEFECTS, FORMERLY|MRD13, FORMERLY Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 OMIM:615282 DO:DOID:0090133 MESH:D054220 C10.500.507/615282|C16.131.666.507/615282 C10.500.507|C16.131.666.507 CDCBM2 Congenital abnormality|Nervous system disease CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 OMIM:615411 DO:DOID:0090134 MESH:D054220 C10.500.507/615411|C16.131.666.507/615411 C10.500.507|C16.131.666.507 CDCBM3 Congenital abnormality|Nervous system disease CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 OMIM:615412 DO:DOID:0090138 MESH:D054220 C10.500.507/615412|C16.131.666.507/615412 C10.500.507|C16.131.666.507 CDCBM4 Congenital abnormality|Nervous system disease CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 OMIM:615763 DO:DOID:0090135 MESH:D054220 C10.500.507/615763|C16.131.666.507/615763 C10.500.507|C16.131.666.507 CDCBM5 Congenital abnormality|Nervous system disease CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 OMIM:615771 DO:DOID:0090136 MESH:D054220 C10.500.507/615771|C16.131.666.507/615771 C10.500.507|C16.131.666.507 CDCBM6 Congenital abnormality|Nervous system disease CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 OMIM:610031 DO:DOID:0090132 MESH:D054220 C10.500.507/610031|C16.131.666.507/610031 C10.500.507|C16.131.666.507 CDCBM7|PMGYSA|POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC Congenital abnormality|Nervous system disease Cortical Dysplasia-Focal Epilepsy Syndrome MESH:C567657 DO:DOID:0090130|OMIM:610042 MESH:D004828|MESH:D019465|MESH:D054220 C05.660.207/C567657|C10.228.140.490.360/C567657|C10.500.507/C567657|C16.131.621.207/C567657|C16.131.666.507/C567657 C05.660.207|C10.228.140.490.360|C10.500.507|C16.131.621.207|C16.131.666.507 CDFES|CDFE SYNDROME|CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME|Pitt-Hopkins-Like Syndrome 1|PTHSL1 Congenital abnormality|Musculoskeletal disease|Nervous system disease Cortical Dysplasia of Taylor without Balloon Cells MESH:C564583 MESH:D054220 C10.500.507/C564583|C16.131.666.507/C564583 C10.500.507|C16.131.666.507 Cortical Dysplasia of Taylor, Dysplasia Only Congenital abnormality|Nervous system disease CORTICAL MALFORMATIONS, OCCIPITAL OMIM:614115 MESH:D054220 C10.500.507/614115|C16.131.666.507/614115 C10.500.507|C16.131.666.507 OCCM Congenital abnormality|Nervous system disease Corticobasal Degeneration MESH:D000088282 Rare progressive neurological disorder characterized by Parkinsonism, cortical atrophy of multiple areas of the brain including the cerebral cortex and the basal ganglia, cognitive dysfunction and eye movement abnormalities. MESH:D024801 C10.574.945.312 C10.574.945 Cortico basal Degeneration|Cortico-basal Degeneration|Cortico basal Ganglionic Degeneration|Cortico-basal Ganglionic Degeneration|Corticobasal Syndrome Nervous system disease Corticosteroid-Binding Globulin Deficiency MESH:C565152 DO:DOID:0090030|OMIM:611489 MESH:D005221|MESH:D030342 C16.320/C565152|C23.888.369/C565152 C16.320|C23.888.369 CBG Deficiency|Transcortin Deficiency|TRANSCORTIN DEFICIENCY CORTICOSTEROID-BINDING GLOBULIN, ELEVATED, INCLUDED Genetic disease (inborn)|Signs and symptoms Corticosteroid-Binding Globulin, Elevated MESH:C566934 MESH:D001796 C15.378.147/C566934 C15.378.147 Blood disease Cortisone reductase deficiency MESH:C536447 DO:DOID:0090139|OMIM:604931|OMIM:614662 MESH:D006628|MESH:D043202|MESH:D058489 C12.050.351.875.253.064/C536447|C12.200.706.316.064/C536447|C12.800.316.064/C536447|C16.131.939.316.064/C536447|C16.320.565.925/C536447|C17.800.329.750/C536447|C18.452.648.925/C536447|C19.391.119.064/C536447|C23.888.971.468/C536447 C12.050.351.875.253.064|C12.200.706.316.064|C12.800.316.064|C16.131.939.316.064|C16.320.565.925|C17.800.329.750|C18.452.648.925|C19.391.119.064|C23.888.971.468 11-beta-hydroxysteroid dehydrogenase, type i, deficiency of|CORTISONE REDUCTASE DEFICIENCY 1|CORTISONE REDUCTASE DEFICIENCY 2|CORTRD1|CORTRD2 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Signs and symptoms|Skin disease|Urogenital disease (female)|Urogenital disease (male) Cor Triatriatum MESH:D003310 A malformation of the heart in which the embryonic common PULMONARY VEIN was not incorporated into the LEFT ATRIUM leaving behind a perforated fibromuscular membrane bisecting the left atrium, a three-atrium heart. The opening between the two left atrium sections determines the degree of obstruction to pulmonary venous return, pulmonary venous and pulmonary arterial hypertension. MESH:D006330 C14.240.400.200|C14.280.400.200|C16.131.240.400.200 C14.240.400|C14.280.400|C16.131.240.400 Atriums, Subdivided Left|Atrium, Subdivided Left|Cor Triatriatum Sinistrum|Hearts, Triatrial|Heart, Triatrial|Left Atriums, Subdivided|Left Atrium, Subdivided|Subdivided Left Atrium|Subdivided Left Atriums|Triatrial Heart|Triatrial Hearts Cardiovascular disease|Congenital abnormality Corynebacterium Infections MESH:D003354 DO:DOID:11405 Infections with bacteria of the genus CORYNEBACTERIUM. MESH:D000193 C01.150.252.410.040.246 C01.150.252.410.040 Corynebacterium Infection|Infection, Corynebacterium|Infections, Corynebacterium Bacterial infection or mycosis Costeff optic atrophy syndrome MESH:C535311 OMIM:258501 MESH:D002819|MESH:D008661|MESH:D009896|MESH:D015419 C10.228.662.262.249/C535311|C10.292.700.225/C535311|C10.500.300.820/C535311|C10.574.500.495.820/C535311|C10.597.350.250/C535311|C10.668.829.800.300.820/C535311|C11.640.451/C535311|C16.131.666.300.820/C535311|C16.320.400.375.820/C535311|C16.320.565/C535311|C18.452.648/C535311|C23.888.592.350.250/C535311 C10.228.662.262.249|C10.292.700.225|C10.500.300.820|C10.574.500.495.820|C10.597.350.250|C10.668.829.800.300.820|C11.640.451|C16.131.666.300.820|C16.320.400.375.820|C16.320.565|C18.452.648|C23.888.592.350.250 3-methylglutaconic aciduria, type III|Costeff syndrome|Iraqi Jewish optic atrophy plus|IRAQI-JEWISH 'OPTIC ATROPHY PLUS'|MGA3|MGA, TYPE III|MGCA3|OPA3, Autosomal Recessive|Optic Atrophy 3, Autosomal Recessive|Optic atrophy, infantile, with chorea and spastic paraplegia|Optic atrophy plus syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Costello Syndrome MESH:D056685 DO:DOID:0050469|OMIM:218040 Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome). MESH:D000015|MESH:D019465|MESH:D030342 C05.660.207.219|C16.131.077.256|C16.320.188 C05.660.207|C16.131.077|C16.320 CMEMS, INCLUDED|CSTLO|Faciocutaneoskeletal Syndrome|Faciocutaneoskeletal Syndromes|FCS Syndrome|FCS SYNDROME MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED|FCS Syndromes|Syndrome, Costello|Syndrome, Faciocutaneoskeletal|Syndrome, FCS|Syndromes, Faciocutaneoskeletal|Syndromes, FCS Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Costocoracoid ligament congenitally short MESH:C536448 MESH:D000015 C16.131.077/C536448 C16.131.077 Congenital shortness of the costocoracoid ligament|Costocoracoid Ligament, Congenitally Short Congenital abnormality Cote Katsantoni syndrome MESH:C536449 MESH:D003394|MESH:D003680|MESH:D006130 C05.116.099.370.231/C536449|C05.660.207.231/C536449|C06.405.117.119/C536449|C09.775.174/C536449|C16.131.621.207.231/C536449|C23.550.393/C536449 C05.116.099.370.231|C05.660.207.231|C06.405.117.119|C09.775.174|C16.131.621.207.231|C23.550.393 Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Musculoskeletal disease|Pathology (process) Cough MESH:D003371 A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. It is a protective response that serves to clear the trachea, bronchi, and/or lungs of irritants and secretions, or to prevent aspiration of foreign materials into the lungs. MESH:D012120|MESH:D012818 C08.618.248|C23.888.852.293 C08.618|C23.888.852 Coughs Respiratory tract disease|Signs and symptoms cough hypersensitivity syndrome MESH:C000726768 MESH:D012140 C08/C000726768 C08 sensory neuropathic cough Respiratory tract disease Coulrophobia MESH:C000719198 MESH:D010698 F03.080.725/C000719198 F03.080.725 Fear of clowns|Phobia, clowns Mental disorder Coumarin Resistance MESH:C563039 OMIM:122700 MESH:D008661 C16.320.565/C563039|C18.452.648/C563039 C16.320.565|C18.452.648 Coumarin, Poor Metabolism Of|Warfarin Resistance|WARFARIN RESISTANCE COUMARIN SENSITIVITY, INCLUDED|WARFARIN SENSITIVITY, INCLUDED Genetic disease (inborn)|Metabolic disease Coumarin Sensitivity MESH:C567276 MESH:D008661 C16.320.565/C567276|C18.452.648/C567276 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease COUSIN SYNDROME OMIM:260660 MESH:C535550|MESH:D006130|MESH:D019465 C05.116.099.370/C535550/260660|C05.660.207/260660|C16.131.621.207/260660|C23.550.393/260660 C05.116.099.370/C535550|C05.660.207|C16.131.621.207|C23.550.393 CRANIOFACIAL DYSMORPHISM, HYPOPLASIA OF SCAPULA AND PELVIS, AND SHORT STATURE|PELVISCAPULAR DYSPLASIA Congenital abnormality|Musculoskeletal disease|Pathology (process) COVID-19 MESH:D000086382 DO:DOID:0080600 A viral disorder generally characterized by high FEVER; COUGH; DYSPNEA; CHILLS; PERSISTENT TREMOR; MUSCLE PAIN; HEADACHE; SORE THROAT; a new loss of taste and/or smell (see AGEUSIA and ANOSMIA) and other symptoms of a VIRAL PNEUMONIA. In severe cases, a myriad of coagulopathy associated symptoms often correlating with COVID-19 severity is seen (e.g., BLOOD COAGULATION; THROMBOSIS; ACUTE RESPIRATORY DISTRESS SYNDROME; SEIZURES; HEART ATTACK; STROKE; multiple CEREBRAL INFARCTIONS; KIDNEY FAILURE; catastrophic ANTIPHOSPHOLIPID ANTIBODY SYNDROME and/or DISSEMINATED INTRAVASCULAR COAGULATION). In younger patients, rare inflammatory syndromes are sometimes associated with COVID-19 (e.g., atypical KAWASAKI SYNDROME; TOXIC SHOCK SYNDROME; pediatric multisystem inflammatory disease; and CYTOKINE STORM SYNDROME). A coronavirus, SARS-CoV-2, in the genus BETACORONAVIRUS is the causative agent. MESH:D011024|MESH:D018352 C01.748.610.763.500|C01.925.705.500|C01.925.782.600.550.200.163|C08.381.677.807.500|C08.730.610.763.500 C01.748.610.763|C01.925.705|C01.925.782.600.550.200|C08.381.677.807|C08.730.610.763 2019 nCoV Disease|2019-nCoV Disease|2019-nCoV Diseases|2019 nCoV Infection|2019-nCoV Infection|2019-nCoV Infections|2019 Novel Coronavirus Disease|2019 Novel Coronavirus Infection|Coronavirus Disease 19|Coronavirus Disease-19|Coronavirus Disease 2019|COVID 19|COVID19|COVID 19 Pandemic|COVID-19 Pandemic|COVID-19 Pandemics|COVID 19 Virus Disease|COVID-19 Virus Disease|COVID-19 Virus Diseases|COVID 19 Virus Infection|COVID-19 Virus Infection|COVID-19 Virus Infections|Disease 2019, Coronavirus|Disease, 2019-nCoV|Disease, COVID-19 Virus|Infection, 2019-nCoV|Infection, COVID-19 Virus|Infection, SARS-CoV-2|Pandemic, COVID-19|SARS Coronavirus 2 Infection|SARS CoV 2 Infection|SARS-CoV-2 Infection|SARS-CoV-2 Infections|Severe Acute Respiratory Syndrome Coronavirus 2 Infection|Virus Disease, COVID-19|Virus Infection, COVID-19 Respiratory tract disease|Viral disease COVID-19 breakthrough infections MESH:C000718127 MESH:D000086382|MESH:D000093742 C01.175/C000718127|C01.748.610.763.500/C000718127|C01.925.705.500/C000718127|C01.925.782.600.550.200.163/C000718127|C08.381.677.807.500/C000718127|C08.730.610.763.500/C000718127|C23.550.291.219/C000718127 C01.175|C01.748.610.763.500|C01.925.705.500|C01.925.782.600.550.200.163|C08.381.677.807.500|C08.730.610.763.500|C23.550.291.219 breakthrough COVID-19 infection|breakthrough COVID-19 infections|breakthrough infection COVID-19|breakthrough infections COVID-19|COVID-19 breakthrough|COVID-19 breakthrough infection Pathology (process)|Respiratory tract disease|Viral disease COVID-19 post-intensive care syndrome MESH:C000711429 MESH:D000086382 C01.748.610.763.500/C000711429|C01.925.705.500/C000711429|C01.925.782.600.550.200.163/C000711429|C08.381.677.807.500/C000711429|C08.730.610.763.500/C000711429 C01.748.610.763.500|C01.925.705.500|C01.925.782.600.550.200.163|C08.381.677.807.500|C08.730.610.763.500 COVID19 post-intensive care syndrome Respiratory tract disease|Viral disease COVID-19 rebound MESH:C000722978 MESH:D000086382|MESH:D012008 C01.748.610.763.500/C000722978|C01.925.705.500/C000722978|C01.925.782.600.550.200.163/C000722978|C08.381.677.807.500/C000722978|C08.730.610.763.500/C000722978|C23.550.291.937/C000722978 C01.748.610.763.500|C01.925.705.500|C01.925.782.600.550.200.163|C08.381.677.807.500|C08.730.610.763.500|C23.550.291.937 COVID-19 recrudescence|COVID-19 relapse Pathology (process)|Respiratory tract disease|Viral disease COVID-19 reinfection MESH:C000722979 MESH:D000084063|MESH:D000086382 C01.748.610.763.500/C000722979|C01.925.705.500/C000722979|C01.925.782.600.550.200.163/C000722979|C08.381.677.807.500/C000722979|C08.730.610.763.500/C000722979|C23.550.291.937.250/C000722979 C01.748.610.763.500|C01.925.705.500|C01.925.782.600.550.200.163|C08.381.677.807.500|C08.730.610.763.500|C23.550.291.937.250 COVID-19 re-infection Pathology (process)|Respiratory tract disease|Viral disease COVID-19 stress syndrome MESH:C000711430 MESH:D000086382 C01.748.610.763.500/C000711430|C01.925.705.500/C000711430|C01.925.782.600.550.200.163/C000711430|C08.381.677.807.500/C000711430|C08.730.610.763.500/C000711430 C01.748.610.763.500|C01.925.705.500|C01.925.782.600.550.200.163|C08.381.677.807.500|C08.730.610.763.500 COVID19 stress syndrome|COVID stress syndrome Respiratory tract disease|Viral disease Cowchock syndrome MESH:C536450 OMIM:310490 MESH:D002607|MESH:D006319|MESH:D038901 C09.218.458.341.887/C536450|C10.500.300.200/C536450|C10.574.500.495.200/C536450|C10.597.606.360.455/C536450|C10.597.751.418.341.887/C536450|C10.668.829.800.300.200/C536450|C16.131.666.300.200/C536450|C16.320.322.500/C536450|C16.320.400.375.200/C536450|C16.320.400.525/C536450|C23.888.592.763.393.341.887/C536450 C09.218.458.341.887|C10.500.300.200|C10.574.500.495.200|C10.597.606.360.455|C10.597.751.418.341.887|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.322.500|C16.320.400.375.200|C16.320.400.525|C23.888.592.763.393.341.887 Charcot-Marie-Tooth disease with deafness and mental retardation|Charcot-Marie-Tooth disease, X-linked recessive, 4|CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA|CMTX4|COWCHOCK SYNDROME|COWCK|NADMR|NAMSD|Neuropathy, Axonal Motor-Sensory, with Deafness and Mental Retardation Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Cowden-Like Syndrome MESH:C567337 MESH:D006223|MESH:D028361 C04.445.435/C567337|C04.651.435/C567337|C04.700.435/C567337|C16.320.700.435/C567337|C18.452.660/C567337 C04.445.435|C04.651.435|C04.700.435|C16.320.700.435|C18.452.660 Cancer|Genetic disease (inborn)|Metabolic disease COWDEN SYNDROME 4 OMIM:615107 DO:DOID:0081000 MESH:C567337 C04.445.435/C567337/615107|C04.651.435/C567337/615107|C04.700.435/C567337/615107|C16.320.700.435/C567337/615107|C18.452.660/C567337/615107 C04.445.435/C567337|C04.651.435/C567337|C04.700.435/C567337|C16.320.700.435/C567337|C18.452.660/C567337 CWS4 Cancer|Genetic disease (inborn)|Metabolic disease COWDEN SYNDROME 5 OMIM:615108 DO:DOID:0081001 MESH:C567337 C04.445.435/C567337/615108|C04.651.435/C567337/615108|C04.700.435/C567337/615108|C16.320.700.435/C567337/615108|C18.452.660/C567337/615108 C04.445.435/C567337|C04.651.435/C567337|C04.700.435/C567337|C16.320.700.435/C567337|C18.452.660/C567337 CWS5 Cancer|Genetic disease (inborn)|Metabolic disease COWDEN SYNDROME 6 OMIM:615109 DO:DOID:0081002 MESH:C567337 C04.445.435/C567337/615109|C04.651.435/C567337/615109|C04.700.435/C567337/615109|C16.320.700.435/C567337/615109|C18.452.660/C567337/615109 C04.445.435/C567337|C04.651.435/C567337|C04.700.435/C567337|C16.320.700.435/C567337|C18.452.660/C567337 CWS6 Cancer|Genetic disease (inborn)|Metabolic disease COWDEN SYNDROME 7 OMIM:616858 DO:DOID:0081003 MESH:C567337 C04.445.435/C567337/616858|C04.651.435/C567337/616858|C04.700.435/C567337/616858|C16.320.700.435/C567337/616858|C18.452.660/C567337/616858 C04.445.435/C567337|C04.651.435/C567337|C04.700.435/C567337|C16.320.700.435/C567337|C18.452.660/C567337 CWS7 Cancer|Genetic disease (inborn)|Metabolic disease Cowpox MESH:D015605 DO:DOID:8956 A mild, eruptive skin disease of milk cows caused by COWPOX VIRUS, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal. MESH:D011213 C01.925.256.743.175 C01.925.256.743 Cow Pox|Pox, Cow Viral disease Coxa Magna MESH:D000070603 Deformity of the hip characterized by enlargement and deformation of the FEMUR HEAD and FEMUR NECK, often with associated changes in the ACETABULUM. These changes may be secondary to other diseases (e.g. LEGG-PERTHES DISEASE; ARTHRITIS; HIP DISLOCATION, CONGENITAL) or TRAUMA. MESH:D001847 C05.116.296 C05.116 Coxa Magnas|Deformities, Femoral Head|Deformity, Femoral Head|Femoral Head Deformities|Femoral Head Deformity Musculoskeletal disease Coxa Valga MESH:D060906 Hip deformity in which the angle between the femoral neck and its shaft is increased. It may be congenital, acquired, or developmental. MESH:D001847|MESH:D060751 C05.116.214.750.500|C05.116.327|C23.300.970.374.500 C05.116|C05.116.214.750|C23.300.970.374 Acquired Coxa Valga|Acquired Coxa Valgas|Acquired Coxa Valgus|Congenital Coxa Valga|Congenital Coxa Valgas|Congenital Coxa Valgus|Coxa Valga, Acquired|Coxa Valga, Congenital|Coxa Valga, Developmental|Coxa Valgas|Coxa Valgas, Acquired|Coxa Valgas, Congenital|Coxa Valgas, Developmental|Coxa Valgus|Coxa Valgus, Acquired|Coxa Valgus, Congenital|Coxa Valgus, Developmental|Developmental Coxa Valga|Developmental Coxa Valgas|Developmental Coxa Valgus|Valga, Coxa|Valgas, Coxa|Valgus, Coxa Musculoskeletal disease|Pathology (anatomical condition) Coxa Vara MESH:D060905 Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental. MESH:D060750 C05.116.214.500.500|C23.300.970.249.500 C05.116.214.500|C23.300.970.249 Acquired Coxa Vara|Acquired Coxa Varas|Acquired Coxa Varus|Congenital Coxa Vara|Congenital Coxa Varas|Congenital Coxa Varus|Coxa Vara, Acquired|Coxa Vara, Congenital|Coxa Vara, Developmental|Coxa Vara, Infantile|Coxa Varas|Coxa Varas, Acquired|Coxa Varas, Congenital|Coxa Varas, Developmental|Coxa Varas, Infantile|Coxa Varus|Coxa Varus, Acquired|Coxa Varus, Congenital|Coxa Varus, Developmental|Developmental Coxa Vara|Developmental Coxa Varas|Developmental Coxa Varus|Infantile Coxa Vara|Infantile Coxa Varas|Vara, Coxa|Varas, Coxa|Varus, Coxa Musculoskeletal disease|Pathology (anatomical condition) Coxoauricular Syndrome MESH:C565148 MESH:D003638|MESH:D006130|MESH:D006618 C05.660.297.500/C565148|C09.218.458.341.186/C565148|C10.597.751.418.341.186/C565148|C16.131.621.297.500/C565148|C16.131.621.449/C565148|C23.550.393/C565148|C23.888.592.763.393.341.186/C565148 C05.660.297.500|C09.218.458.341.186|C10.597.751.418.341.186|C16.131.621.297.500|C16.131.621.449|C23.550.393|C23.888.592.763.393.341.186 Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms COXSACKIEVIRUS B3 SUSCEPTIBILITY OMIM:120050 MESH:D003384 C01.925.782.687.359.213/120050 C01.925.782.687.359.213 CB3S|CXB3S Viral disease Coxsackievirus Infections MESH:D003384 A heterogeneous group of infections produced by coxsackieviruses, including HERPANGINA, aseptic meningitis (MENINGITIS, ASEPTIC), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (PLEURODYNIA, EPIDEMIC) and a serious MYOCARDITIS. MESH:D004769 C01.925.782.687.359.213 C01.925.782.687.359 Coxsackievirus Infection|Coxsackie Virus Infection|Coxsackie Virus Infections|Infections, Coxsackievirus|Infections, Coxsackie Virus Viral disease Cracked Tooth Syndrome MESH:D003387 Incomplete fracture of any part of a tooth, characterized by pain during mastication and sensitivity to heat, cold, sweet or sour tastes, and alcohol; it is often undiagnosed because the tooth is usually X-ray negative and normal to pulp vitality tests. MESH:D014082 C07.793.850.750.300|C26.900.750.300 C07.793.850.750|C26.900.750 Cracked Tooth Syndromes|Syndrome, Cracked Tooth|Syndromes, Cracked Tooth Mouth disease|Wounds and injuries Crane-Heise syndrome MESH:C536452 MESH:D000013|MESH:D003025 C05.330.488.655.063/C536452|C05.330.495.681.063/C536452|C05.660.585.512.380.813.063/C536452|C16.131.621.585.512.500.681.063/C536452|C16.131/C536452 C05.330.488.655.063|C05.330.495.681.063|C05.660.585.512.380.813.063|C16.131|C16.131.621.585.512.500.681.063 Cleft lip-palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus Congenital abnormality|Musculoskeletal disease Cranial Nerve Diseases MESH:D003389 DO:DOID:3817|DO:DOID:5656 Disorders of one or more of the twelve cranial nerves. With the exception of the optic and olfactory nerves, this includes disorders of the brain stem nuclei from which the cranial nerves originate or terminate. MESH:D009422 C10.292 C10 Cranial Nerve Disease|Cranial Nerve Disorder|Cranial Nerve Disorders|Cranial Nerve Palsies|Cranial Nerve Palsy|Cranial Neuropathies|Cranial Neuropathies, Multiple|Cranial Neuropathy|Cranial Neuropathy, Multiple|Multiple Cranial Neuropathies|Multiple Cranial Neuropathy|Nervus Cranialis Disorder|Nervus Cranialis Disorders|Neuropathies, Cranial|Neuropathies, Multiple Cranial|Neuropathy, Cranial|Neuropathy, Multiple Cranial|Palsies, Cranial Nerve|Palsy, Cranial Nerve Nervous system disease Cranial Nerve Injuries MESH:D020209 Dysfunction of one or more cranial nerves causally related to a traumatic injury. Penetrating and nonpenetrating CRANIOCEREBRAL TRAUMA; NECK INJURIES; and trauma to the facial region are conditions associated with cranial nerve injuries. MESH:D003389|MESH:D006259 C10.292.200|C10.900.300.218|C26.915.300.400 C10.292|C10.900.300|C26.915.300 Cranial Nerve Injury|Cranial Neuropathies, Traumatic|Cranial Neuropathy, Traumatic|Injuries, Cranial Nerve|Injury, Cranial Nerve|Nerve Injuries, Cranial|Nerve Injury, Cranial|Neuropathies, Traumatic Cranial|Neuropathy, Traumatic Cranial|Traumatic Cranial Neuropathies|Traumatic Cranial Neuropathy Nervous system disease|Wounds and injuries Cranial Nerve Neoplasms MESH:D003390 DO:DOID:2815 Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves. MESH:D003389|MESH:D009423|MESH:D010524 C04.588.614.300|C04.588.614.596.240|C10.292.225|C10.551.360|C10.551.775.250 C04.588.614|C04.588.614.596|C10.292|C10.551|C10.551.775 Benign Cranial Nerve Neoplasms|Benign Cranial Nerve Tumors|Benign Cranial Neuroma|Benign Cranial Neuromas|Cranial Nerve Neoplasm|Cranial Nerve Neoplasms, Benign|Cranial Nerve Neoplasms, Malignant|Cranial Nerve Tumors, Benign|Cranial Nerve Tumors, Malignant|Cranial Neuroma, Benign|Cranial Neuromas, Benign|Malignant Cranial Nerve Neoplasms|Malignant Cranial Nerve Tumors|Neoplasm, Cranial Nerve|Neoplasms, Cranial Nerve|Neoplasms, Cranial Nerve, Benign|Neoplasms, Cranial Nerve, Malignant|Neuroma, Benign Cranial|Neuromas, Benign Cranial|Tumors, Cranial Nerve, Benign|Tumors, Cranial Nerve, Malignant Cancer|Nervous system disease Cranial Nerves, Congenital Paresis Of MESH:C565673 MESH:D003389 C10.292/C565673 C10.292 Nervous system disease Cranial Nerves, Recurrent Paresis Of MESH:C565672 MESH:D003389 C10.292/C565672 C10.292 Nervous system disease Cranioacrofacial Syndrome MESH:C565147 MESH:D006228|MESH:D006330|MESH:D019465 C05.390.408/C565147|C05.660.207/C565147|C05.660.585.988.425/C565147|C14.240.400/C565147|C14.280.400/C565147|C16.131.240.400/C565147|C16.131.621.207/C565147|C16.131.621.585.988.500/C565147 C05.390.408|C05.660.207|C05.660.585.988.425|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207|C16.131.621.585.988.500 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Craniocerebral Trauma MESH:D006259 Traumatic injuries involving the cranium and intracranial structures (i.e., BRAIN; CRANIAL NERVES; MENINGES; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage. MESH:D020196 C10.900.300|C26.915.300 C10.900|C26.915 Craniocerebral Injuries|Craniocerebral Injury|Craniocerebral Traumas|Crushing Skull Injuries|Crushing Skull Injury|Forehead Trauma|Forehead Traumas|Frontal Region Trauma|Frontal Region Traumas|Head Injuries|Head Injuries, Minor|Head Injuries, Multiple|Head Injuries, Open|Head Injuries, Superficial|Head Injury|Head Injury, Minor|Head Injury, Multiple|Head Injury, Open|Head Injury, Superficial|Head Trauma|Head Traumas|Injuries, Craniocerebral|Injuries, Head|Injuries, Minor Head|Injuries, Multiple Head|Injuries, Open Head|Injuries, Superficial Head|Injury, Craniocerebral|Injury, Head|Injury, Minor Head|Injury, Multiple Head|Injury, Open Head|Injury, Superficial Head|Minor Head Injuries|Minor Head Injury|Multiple Head Injuries|Multiple Head Injury|Occipital Region Trauma|Occipital Region Traumas|Occipital Trauma|Occipital Traumas|Open Head Injuries|Open Head Injury|Parietal Region Trauma|Parietal Region Traumas|Region Trauma, Frontal|Region Trauma, Occipital|Region Trauma, Parietal|Region Traumas, Frontal|Region Traumas, Occipital|Region Traumas, Parietal|Skull Injuries, Crushing|Skull Injury, Crushing|Superficial Head Injuries|Superficial Head Injury|Temporal Region Trauma|Temporal Region Traumas|Trauma, Craniocerebral|Trauma, Forehead|Trauma, Frontal Region|Trauma, Head|Trauma, Occipital|Trauma, Occipital Region|Trauma, Parietal Region|Traumas, Craniocerebral|Traumas, Forehead|Traumas, Frontal Region|Traumas, Head|Traumas, Occipital|Traumas, Occipital Region|Traumas, Parietal Region|Traumas, Temporal Region|Trauma, Temporal Region Nervous system disease|Wounds and injuries Craniodiaphyseal Dysplasia MESH:C562940 DO:DOID:0080032 MESH:D010009|MESH:D019465 C05.116.099.708/C562940|C05.660.207/C562940|C16.131.621.207/C562940|C16.320.728/C562940 C05.116.099.708|C05.660.207|C16.131.621.207|C16.320.728 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Craniodiaphyseal Dysplasia, Autosomal Dominant MESH:C567275 OMIM:122860 MESH:D010009|MESH:D019465 C05.116.099.708/C567275|C05.660.207/C567275|C16.131.621.207/C567275|C16.320.728/C567275 C05.116.099.708|C05.660.207|C16.131.621.207|C16.320.728 CDD Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Cranioectodermal Dysplasia MESH:C562966 DO:DOID:0050577|OMIM:218330|OMIM:613610|OMIM:614099|OMIM:614378 MESH:D003398|MESH:D004476 C05.116.099.370.894.232/C562966|C05.660.207.240/C562966|C05.660.906.364/C562966|C16.131.077.350/C562966|C16.131.621.207.240/C562966|C16.131.621.906.364/C562966|C16.131.831.350/C562966|C16.320.850.250/C562966|C17.800.804.350/C562966|C17.800.827.250/C562966 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.077.350|C16.131.621.207.240|C16.131.621.906.364|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 CED1|CED2|CED3|CED4|CRANIOECTODERMAL DYSPLASIA 1|CRANIOECTODERMAL DYSPLASIA 2|CRANIOECTODERMAL DYSPLASIA 3|CRANIOECTODERMAL DYSPLASIA 4|Levin Syndrome I|Sensenbrenner Syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Craniofacial Abnormalities MESH:D019465 Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. MESH:D009139 C05.660.207|C16.131.621.207 C05.660|C16.131.621 Abnormalities, Craniofacial|Abnormality, Craniofacial|Craniofacial Abnormality Congenital abnormality|Musculoskeletal disease Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation MESH:C564271 MESH:D002386|MESH:D002658|MESH:D006130|MESH:D006330|MESH:D009436|MESH:D019465 C05.660.207/C564271|C10.500.680/C564271|C11.510.245/C564271|C14.240.400/C564271|C14.280.400/C564271|C16.131.240.400/C564271|C16.131.621.207/C564271|C16.131.666.680/C564271|C23.550.393/C564271|F03.625.421/C564271 C05.660.207|C10.500.680|C11.510.245|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207|C16.131.666.680|C23.550.393|F03.625.421 Cardiovascular disease|Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process) CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME OMIM:614195 MESH:C537775|MESH:D019465 C05.660.207/614195|C11.250/C537775/614195|C16.131.384/C537775/614195|C16.131.621.207/614195 C05.660.207|C11.250/C537775|C16.131.384/C537775|C16.131.621.207 CAASDS Congenital abnormality|Eye disease|Musculoskeletal disease Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells MESH:C565731 MESH:D004652|MESH:D019465 C05.660.207/C565731|C10.228.140.617.738.200/C565731|C16.131.621.207/C565731|C19.700.320/C565731 C05.660.207|C10.228.140.617.738.200|C16.131.621.207|C19.700.320 Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Nervous system disease Craniofacial deafness hand syndrome MESH:C536453 DO:DOID:0111336|OMIM:122880 MESH:D000015|MESH:D006319|MESH:D019465 C05.660.207/C536453|C09.218.458.341.887/C536453|C10.597.751.418.341.887/C536453|C16.131.077/C536453|C16.131.621.207/C536453|C23.888.592.763.393.341.887/C536453 C05.660.207|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.077|C16.131.621.207|C23.888.592.763.393.341.887 CDHS|Craniofacial-Deafness-Hand Syndrome Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Craniofacial Dysostosis MESH:D003394 DO:DOID:2339|OMIM:123500 Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia. MESH:D004413|MESH:D019465 C05.116.099.370.231|C05.660.207.231|C16.131.621.207.231 C05.116.099.370|C05.660.207|C16.131.621.207 CFD1|Craniofacial Dysarthroses|Craniofacial Dysarthrosis|Craniofacial Dysostoses|Craniofacial Dysostosis, Crouzon|Craniofacial Dysostosis Syndrome|Craniofacial Dysostosis Syndromes|Craniofacial Dysostosis Type 1|Craniofacial Dysostosis, Type I|Crouzon Craniofacial Dysostosis|Crouzon Disease|Crouzon's Disease|Crouzons Disease|Crouzon Syndrome|Dysarthroses, Craniofacial|Dysarthrosis, Craniofacial|Dysostoses, Craniofacial|Dysostosis, Craniofacial Congenital abnormality|Musculoskeletal disease Craniofacial Dysostosis with Diaphyseal Hyperplasia MESH:C562974 MESH:D003394|MESH:D010026 C05.116.099.370.231/C562974|C05.116.099.708.702/C562974|C05.660.207.231/C562974|C16.131.621.207.231/C562974 C05.116.099.370.231|C05.116.099.708.702|C05.660.207.231|C16.131.621.207.231 Osteosclerosis, Stanescu Type Congenital abnormality|Musculoskeletal disease Craniofacial dyssynostosis MESH:C536455 MESH:D019465 C05.660.207/C536455|C16.131.621.207/C536455 C05.660.207|C16.131.621.207 Craniofacial dyssynostosis and short stature|Craniofacial Dyssynostosis with Short Stature|Craniosynostosis-craniofacial dysostosis syndrome Congenital abnormality|Musculoskeletal disease Craniofacial Fibrous Dysplasia MESH:D000077275 Mostly benign fibro-osseous proliferation of the facial bones and skull. It can be either monostotic (localized to a single bone) or polyostotic (localized to more than one bone) type. MESH:D005357 C05.116.099.708.375.286 C05.116.099.708.375 Craniofacial Fibrous Dysplasias|Craniomaxillofacial Fibrous Dysplasia|Craniomaxillofacial Fibrous Dysplasias|Dysplasia, Maxillary Fibrous|Fibrous Dysplasia, Craniofacial|Fibrous Dysplasia, Craniomaxillofacial|Fibrous Dysplasia, Maxillary|Fibrous Dysplasia of Skull|Maxillary Fibrous Dysplasia|Maxillary Fibrous Dysplasias|Skull Fibrous Dysplasia|Skull Fibrous Dysplasias Musculoskeletal disease Craniofaciofrontodigital Syndrome MESH:C567298 MESH:D000015|MESH:D006330|MESH:D008607 C10.597.606.360/C567298|C14.240.400/C567298|C14.280.400/C567298|C16.131.077/C567298|C16.131.240.400/C567298|C23.888.592.604.646/C567298|F03.625.539/C567298 C10.597.606.360|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C23.888.592.604.646|F03.625.539 Cantu Craniofaciofrontodigital Syndrome Cardiovascular disease|Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms Craniofacioskeletal Syndrome MESH:C567471 OMIM:300712 MESH:D000015|MESH:D019465|MESH:D040181 C05.660.207/C567471|C16.131.077/C567471|C16.131.621.207/C567471|C16.320.322/C567471 C05.660.207|C16.131.077|C16.131.621.207|C16.320.322 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Craniofrontonasal dysplasia MESH:C536456 DO:DOID:14737|OMIM:304110 MESH:D019465 C05.660.207/C536456|C16.131.621.207/C536456 C05.660.207|C16.131.621.207 CFND|CFNS|Craniofrontonasal dysostosis|CRANIOFRONTONASAL DYSPLASIA|Craniofrontonasal syndrome Congenital abnormality|Musculoskeletal disease Craniolenticulosutural Dysplasia MESH:C564332 DO:DOID:0070307|OMIM:607812 MESH:D001848|MESH:D019465 C05.116.099/C564332|C05.660.207/C564332|C16.131.621.207/C564332 C05.116.099|C05.660.207|C16.131.621.207 Boyadjiev-Jabs Syndrome|CLSD Congenital abnormality|Musculoskeletal disease Craniomandibular Disorders MESH:D017271 Diseases or disorders of the muscles of the head and neck, with special reference to the masticatory muscles. The most notable examples are TEMPOROMANDIBULAR JOINT DISORDERS and TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME. MESH:D008336|MESH:D009135 C05.500.607.221|C05.651.243|C07.320.610.291 C05.500.607|C05.651|C07.320.610 Craniomandibular Disease|Craniomandibular Diseases|Craniomandibular Disorder|Disease, Craniomandibular|Diseases, Craniomandibular|Disorder, Craniomandibular|Disorders, Craniomandibular Mouth disease|Musculoskeletal disease Craniometaphyseal Dysplasia, Autosomal Dominant MESH:C565145 OMIM:123000 MESH:D017271 C05.500.607.221/C565145|C05.651.243/C565145|C07.320.610.291/C565145 C05.500.607.221|C05.651.243|C07.320.610.291 Autosomal Dominant Craniometaphyseal Dysplasia|CMD|CMDD|CMDJ|Craniometaphyseal dysplasia autosomal dominant|Craniometaphyseal dysplasia dominant type|Craniometaphyseal dysplasia Jackson type|Craniometaphyseal Dysplasia, Jackson Type Mouth disease|Musculoskeletal disease Craniometaphyseal dysplasia, autosomal recessive type MESH:C536570 OMIM:218400 MESH:D003394|MESH:D003398 C05.116.099.370.231/C536570|C05.116.099.370.894.232/C536570|C05.660.207.231/C536570|C05.660.207.240/C536570|C05.660.906.364/C536570|C16.131.621.207.231/C536570|C16.131.621.207.240/C536570|C16.131.621.906.364/C536570 C05.116.099.370.231|C05.116.099.370.894.232|C05.660.207.231|C05.660.207.240|C05.660.906.364|C16.131.621.207.231|C16.131.621.207.240|C16.131.621.906.364 Autosomal Recessive Craniometaphyseal Dysplasia|CMDR|Craniometaphyseal Dysplasia, Autosomal Recessive Congenital abnormality|Musculoskeletal disease Craniomicromelic Syndrome MESH:C566522 MESH:D000015|MESH:D005317|MESH:D017880|MESH:D019465 C05.660.207/C566522|C05.660.585/C566522|C12.050.703.277.370/C566522|C16.131.077/C566522|C16.131.621.207/C566522|C16.131.621.585/C566522|C16.300.390/C566522|C23.550.393.450/C566522 C05.660.207|C05.660.585|C12.050.703.277.370|C16.131.077|C16.131.621.207|C16.131.621.585|C16.300.390|C23.550.393.450 Congenital abnormality|Fetal disease|Musculoskeletal disease|Pathology (process)|Pregnancy complication Craniopharyngioma MESH:D003397 DO:DOID:3840|DO:DOID:3846|DO:DOID:3847 A benign pituitary-region neoplasm that originates from Rathke's pouch. The two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations. (From Joynt, Clinical Neurology, 1998, Ch14, p50) MESH:D017599 C04.557.465.625.200|C04.557.580.625.200 C04.557.465.625|C04.557.580.625 Adamantinous Craniopharyngioma|Adamantinous Craniopharyngiomas|Adult Craniopharyngioma|Adult Craniopharyngiomas|Child Craniopharyngioma|Child Craniopharyngiomas|Craniopharyngioma, Adamantinous|Craniopharyngioma, Adult|Craniopharyngioma, Child|Craniopharyngioma, Papillary|Craniopharyngiomas|Craniopharyngiomas, Adamantinous|Craniopharyngiomas, Adult|Craniopharyngiomas, Child|Craniopharyngiomas, Papillary|Neoplasm, Rathke Cleft|Neoplasm, Rathke's Cleft|Neoplasm, Rathkes Cleft|Papillary Craniopharyngioma|Papillary Craniopharyngiomas|Rathke Cleft Neoplasm|Rathke Pouch Tumor|Rathke's Cleft Neoplasm|Rathkes Cleft Neoplasm|Rathke's Pouch Tumor|Rathkes Pouch Tumor|Tumor, Rathke Pouch|Tumor, Rathke's Pouch Cancer Craniorhiny MESH:C565144 MESH:D019465 C05.660.207/C565144|C16.131.621.207/C565144 C05.660.207|C16.131.621.207 Congenital abnormality|Musculoskeletal disease Craniosynostoses MESH:D003398 DO:DOID:2340|OMIM:123100|OMIM:190440|OMIM:600775|OMIM:614485|OMIM:615314|OMIM:615529|OMIM:616602|OMIM:617439 Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS. MESH:D013580|MESH:D019465 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364 C05.116.099.370.894|C05.660.207|C05.660.906|C16.131.621.207|C16.131.621.906 1 Craniosynostoses, Type|1 Craniosynostosis, Type|Acrocephaly|Anterior Plagiocephaly, Synostotic|Brachycephaly|Coronal Synostoses, Unilateral|Coronal Synostosis, Unilateral|Craniostenoses|Craniostenosis|Craniosynostose|Craniosynostoses, Lambdoidal|Craniosynostoses, Type 1|Craniosynostosis|CRANIOSYNOSTOSIS 1|CRANIOSYNOSTOSIS 3|CRANIOSYNOSTOSIS 4|CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO|CRANIOSYNOSTOSIS 6|CRANIOSYNOSTOSIS 7|CRANIOSYNOSTOSIS 7, DIGENIC|Craniosynostosis, Lambdoidal|CRANIOSYNOSTOSIS, METOPIC|Craniosynostosis Plagiocephaly|Craniosynostosis, Type 1|CRS|CRS1|CRS3|CRS4|CRS5|CRS6|CRS7|CRS7, DIGENIC|Lambdoidal Craniosynostoses|Lambdoidal Craniosynostosis|Lambdoid Synostoses|Lambdoid Synostosis|Metopic Synostoses|Metopic Synostosis|Oxycephaly|Plagiocephaly, Craniosynostosis|Plagiocephaly, Synostotic|Plagiocephaly, Synostotic Anterior|Plagiocephaly, Synostotic Posterior|Posterior Plagiocephaly, Synostotic|Sagittal Synostoses|Sagittal Synostosis|Scaphocephaly|Synostoses, Lambdoid|Synostoses, Metopic|Synostoses, Sagittal|Synostoses, Unilateral Coronal|Synostosis, Lambdoid|Synostosis, Metopic|Synostosis, Sagittal|Synostosis, Unilateral Coronal|Synostotic Anterior Plagiocephaly|Synostotic Plagiocephaly|Synostotic Posterior Plagiocephaly|TRIGNO1|TRIGNO2|Trigonocephaly|TRIGONOCEPHALY 1|TRIGONOCEPHALY 2|Type 1 Craniosynostoses|Type 1 Craniosynostosis|Unilateral Coronal Synostoses|Unilateral Coronal Synostosis Congenital abnormality|Musculoskeletal disease Craniosynostosis, Adelaide Type MESH:C563471 OMIM:600593 MESH:D003398|MESH:D005532|MESH:D006228 C05.116.099.370.894.232/C563471|C05.330.495/C563471|C05.390.408/C563471|C05.660.207.240/C563471|C05.660.585.512.380/C563471|C05.660.585.988.425/C563471|C05.660.906.364/C563471|C16.131.621.207.240/C563471|C16.131.621.585.512.500/C563471|C16.131.621.585.988.500/C563471|C16.131.621.906.364/C563471 C05.116.099.370.894.232|C05.330.495|C05.390.408|C05.660.207.240|C05.660.585.512.380|C05.660.585.988.425|C05.660.906.364|C16.131.621.207.240|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.131.621.906.364 CRSA Congenital abnormality|Musculoskeletal disease Craniosynostosis, anal anomalies, and porokeratosis MESH:C536789 OMIM:603116 MESH:D003398|MESH:D004065|MESH:D017499 C05.116.099.370.894.232/C536789|C05.660.207.240/C536789|C05.660.906.364/C536789|C06.198/C536789|C16.131.314/C536789|C16.131.621.207.240/C536789|C16.131.621.906.364/C536789|C16.320.850.730/C536789|C17.800.428.750/C536789|C17.800.827.730/C536789 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C06.198|C16.131.314|C16.131.621.207.240|C16.131.621.906.364|C16.320.850.730|C17.800.428.750|C17.800.827.730 CAP SYNDROME|CDAGS syndrome|CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease CRANIOSYNOSTOSIS AND DENTAL ANOMALIES OMIM:614188 MESH:D003398|MESH:D014071 C05.116.099.370.894.232/614188|C05.660.207.240/614188|C05.660.906.364/614188|C07.650.800/614188|C07.793.700/614188|C16.131.621.207.240/614188|C16.131.621.906.364/614188|C16.131.850.800/614188 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C07.650.800|C07.793.700|C16.131.621.207.240|C16.131.621.906.364|C16.131.850.800 CRSDA|KREIBORG-PAKISTANI SYNDROME Congenital abnormality|Mouth disease|Musculoskeletal disease Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism MESH:C564241 MESH:D002114|MESH:D003398|MESH:D019066 C05.116.099.370.894.232/C564241|C05.660.207.240/C564241|C05.660.906.364/C564241|C16.131.621.207.240/C564241|C16.131.621.906.364/C564241|C18.452.174.130/C564241|C23.550.291.812/C564241 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364|C18.452.174.130|C23.550.291.812 Congenital abnormality|Metabolic disease|Musculoskeletal disease|Pathology (process) Craniosynostosis Mental Retardation Clefting Syndrome MESH:C565663 MESH:D002971|MESH:D002972|MESH:D003398|MESH:D008607 C05.116.099.370.894.232/C565663|C05.500.460.185/C565663|C05.660.207.240/C565663|C05.660.207.540.460.185/C565663|C05.660.906.364/C565663|C07.320.440.185/C565663|C07.465.409.225/C565663|C07.465.525.164/C565663|C07.465.525.185/C565663|C07.650.500.460.185/C565663|C07.650.525.164/C565663|C07.650.525.185/C565663|C10.597.606.360/C565663|C16.131.621.207.240/C565663|C16.131.621.207.540.460.185/C565663|C16.131.621.906.364/C565663|C16.131.850.500.460.185/C565663|C16.131.850.525.164/C565663|C16.131.850.525.185/C565663|C23.888.592.604.646/C565663|F03.625.539/C565663 C05.116.099.370.894.232|C05.500.460.185|C05.660.207.240|C05.660.207.540.460.185|C05.660.906.364|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C10.597.606.360|C16.131.621.207.240|C16.131.621.207.540.460.185|C16.131.621.906.364|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig MESH:C565664 MESH:D000015|MESH:D003398|MESH:D008607 C05.116.099.370.894.232/C565664|C05.660.207.240/C565664|C05.660.906.364/C565664|C10.597.606.360/C565664|C16.131.077/C565664|C16.131.621.207.240/C565664|C16.131.621.906.364/C565664|C23.888.592.604.646/C565664|F03.625.539/C565664 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C10.597.606.360|C16.131.077|C16.131.621.207.240|C16.131.621.906.364|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities MESH:C565667 MESH:D003398|MESH:D008831|MESH:D019457 C05.116.099.370.894.232/C565667|C05.660.207.240/C565667|C05.660.207.620/C565667|C05.660.906.364/C565667|C10.500.507.400.500/C565667|C16.131.621.207.240/C565667|C16.131.621.207.620/C565667|C16.131.621.906.364/C565667|C16.131.666.507.400.500/C565667|C23.550.210.170/C565667 C05.116.099.370.894.232|C05.660.207.240|C05.660.207.620|C05.660.906.364|C10.500.507.400.500|C16.131.621.207.240|C16.131.621.207.620|C16.131.621.906.364|C16.131.666.507.400.500|C23.550.210.170 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process) Craniosynostosis, Philadelphia Type MESH:C563368 MESH:D003398 C05.116.099.370.894.232/C563368|C05.660.207.240/C563368|C05.660.906.364/C563368|C16.131.621.207.240/C563368|C16.131.621.906.364/C563368 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364 Congenital abnormality|Musculoskeletal disease Craniosynostosis radial aplasia syndrome MESH:C536788 DO:DOID:0050654|OMIM:218600 MESH:D003398 C05.116.099.370.894.232/C536788|C05.660.207.240/C536788|C05.660.906.364/C536788|C16.131.621.207.240/C536788|C16.131.621.906.364/C536788 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364 Baller-Gerold syndrome|BGS|Craniosynostosis-Radial Aplasia Syndrome|Craniosynostosis with radial defects Congenital abnormality|Musculoskeletal disease Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus MESH:C536790 MESH:D003398|MESH:D003616 C05.116.099.370.894.232/C536790|C05.660.207.240/C536790|C05.660.906.364/C536790|C10.228.140.252.300/C536790|C10.228.140.602.500/C536790|C10.500.205/C536790|C16.131.621.207.240/C536790|C16.131.621.906.364/C536790|C16.131.666.205/C536790 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C16.131.621.207.240|C16.131.621.906.364|C16.131.666.205 Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus Congenital abnormality|Musculoskeletal disease|Nervous system disease Craniosynostosis Syndrome, Autosomal Recessive MESH:C564700 MESH:D000015|MESH:D003398 C05.116.099.370.894.232/C564700|C05.660.207.240/C564700|C05.660.906.364/C564700|C16.131.077/C564700|C16.131.621.207.240/C564700|C16.131.621.906.364/C564700 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.077|C16.131.621.207.240|C16.131.621.906.364 Congenital abnormality|Musculoskeletal disease Craniosynostosis, Type 2 MESH:C565753 OMIM:604757 MESH:D003398 C05.116.099.370.894.232/C565753|C05.660.207.240/C565753|C05.660.906.364/C565753|C16.131.621.207.240/C565753|C16.131.621.906.364/C565753 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364 CRANIOSYNOSTOSIS 2|Craniosynostosis, Boston-Type|CRS2|CSB|Warman Mulliken Hayward syndrome Congenital abnormality|Musculoskeletal disease Craniosynostosis with Anomalies of the Cranial Base and Digits MESH:C565666 MESH:D003398 C05.116.099.370.894.232/C565666|C05.660.207.240/C565666|C05.660.906.364/C565666|C16.131.621.207.240/C565666|C16.131.621.906.364/C565666 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364 Congenital abnormality|Musculoskeletal disease Craniosynostosis with Ectopia Lentis MESH:C566357 MESH:D003398|MESH:D004479 C05.116.099.370.894.232/C566357|C05.660.207.240/C566357|C05.660.906.364/C566357|C11.250.300/C566357|C11.510.598.373/C566357|C16.131.384.405/C566357|C16.131.621.207.240/C566357|C16.131.621.906.364/C566357 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C11.250.300|C11.510.598.373|C16.131.384.405|C16.131.621.207.240|C16.131.621.906.364 Congenital abnormality|Eye disease|Musculoskeletal disease Craniosynostosis with Fibular Aplasia MESH:C565665 MESH:D003398 C05.116.099.370.894.232/C565665|C05.660.207.240/C565665|C05.660.906.364/C565665|C16.131.621.207.240/C565665|C16.131.621.906.364/C565665 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364 Congenital abnormality|Musculoskeletal disease Craniosynostosis with Ocular Abnormalities and Hallucal Defects MESH:C564263 MESH:D003398|MESH:D005124 C05.116.099.370.894.232/C564263|C05.660.207.240/C564263|C05.660.906.364/C564263|C11.250/C564263|C16.131.384/C564263|C16.131.621.207.240/C564263|C16.131.621.906.364/C564263 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C11.250|C16.131.384|C16.131.621.207.240|C16.131.621.906.364 Congenital abnormality|Eye disease|Musculoskeletal disease Craniotelencephalic dysplasia MESH:C535597 MESH:D003398 C05.116.099.370.894.232/C535597|C05.660.207.240/C535597|C05.660.906.364/C535597|C16.131.621.207.240/C535597|C16.131.621.906.364/C535597 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364 Complex of anomalies involving the cranium and brain Congenital abnormality|Musculoskeletal disease Crazy paving pattern MESH:C000721427 MESH:D017563 C08.381.483/C000721427 C08.381.483 Crazy paving appearance|Crazy-paving pattern|Crazy paving sign|GGO and reticulation|Ground glass opacity with reticulation Respiratory tract disease Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age MESH:C566543 MESH:D006130|MESH:D009123|MESH:D019066 C10.597.613.575/C566543|C23.550.291.812/C566543|C23.550.393/C566543|C23.888.592.608.575/C566543 C10.597.613.575|C23.550.291.812|C23.550.393|C23.888.592.608.575 Nervous system disease|Pathology (process)|Signs and symptoms Creatine deficiency, X-linked MESH:C535598 OMIM:300352 MESH:D020739|MESH:D038901 C10.228.140.163.100/C535598|C10.597.606.360.455/C535598|C16.320.322.500/C535598|C16.320.400.525/C535598|C16.320.565.189/C535598|C18.452.132.100/C535598|C18.452.648.189/C535598 C10.228.140.163.100|C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C16.320.565.189|C18.452.132.100|C18.452.648.189 CCDS1|Cerebral creatine deficiency syndrome 1|Creatine Deficiency Syndrome, X-Linked|Creatine Transporter Defect|Creatine Transporter Deficiency|Mental retardation, X-linked, with creatine transport deficiency|Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia|Slc6a8 Deficiency|Slc6a8-Related Creatine Transporter Deficiency|X-Linked Creatine Deficiency|X-linked creatine deficiency syndrome|X-linked creatine transporter deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease CREATINE PHOSPHOKINASE, ELEVATED SERUM OMIM:123320 DO:DOID:0111338 MESH:D008661 C16.320.565/123320|C18.452.648/123320 C16.320.565|C18.452.648 CPK, ELEVATED SERUM|HYPERCKEMIA, IDIOPATHIC Genetic disease (inborn)|Metabolic disease Cree Mental Retardation Syndrome MESH:C564654 MESH:D000015|MESH:D008607|MESH:D019066 C10.597.606.360/C564654|C16.131.077/C564654|C23.550.291.812/C564654|C23.888.592.604.646/C564654|F03.625.539/C564654 C10.597.606.360|C16.131.077|C23.550.291.812|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms CREST Syndrome MESH:D017675 DO:DOID:0060218 A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome. MESH:D002114|MESH:D011928|MESH:D013684|MESH:D015154|MESH:D045745 C06.405.117.119.500.204|C14.907.355.830.573.750.500|C14.907.617.812.500|C14.907.823.225|C17.300.799.801.500|C17.800.784.801.500|C17.800.862.406.750.500|C18.452.174.130.204 C06.405.117.119.500|C14.907.355.830.573.750|C14.907.617.812|C14.907.823|C17.300.799.801|C17.800.784.801|C17.800.862.406.750|C18.452.174.130 Calcinosis Raynaud Phenomenon Sclerodactyly Telangiectasia|Calcinosis-Raynaud Phenomenon-Sclerodactyly-Telangiectasia|Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia Syndrome|CREST Syndromes|CRST Syndrome|CRST Syndromes|Phenomenon-Sclerodactyly-Telangiectasia, Calcinosis-Raynaud|Syndrome, CREST|Syndrome, CRST Cardiovascular disease|Connective tissue disease|Digestive system disease|Metabolic disease|Skin disease Creutzfeldt-Jakob Disease, Heidenhain Variant MESH:C566981 MESH:D007562|MESH:D014786 C01.207.800.230/C566981|C10.228.140.380.165/C566981|C10.228.228.800.230/C566981|C10.597.751.941/C566981|C11.966/C566981|C23.888.592.763.941/C566981|F03.615.400.300/C566981 C01.207.800.230|C10.228.140.380.165|C10.228.228.800.230|C10.597.751.941|C11.966|C23.888.592.763.941|F03.615.400.300 Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Creutzfeldt-Jakob Disease, Sporadic MESH:C565143 MESH:D007562 C01.207.800.230/C565143|C10.228.140.380.165/C565143|C10.228.228.800.230/C565143|F03.615.400.300/C565143 C01.207.800.230|C10.228.140.380.165|C10.228.228.800.230|F03.615.400.300 Mental disorder|Nervous system disease Creutzfeldt-Jakob Syndrome MESH:D007562 DO:DOID:11949|OMIM:123400 A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27)) MESH:D003704|MESH:D017096 C01.207.800.230|C10.228.140.380.165|C10.228.228.800.230|F03.615.400.300 C01.207.800|C10.228.140.380|C10.228.228.800|F03.615.400 CJD|CJD (Creutzfeldt Jakob Disease)|CJD (Creutzfeldt-Jakob Disease)|Creutzfeldt Jacob Disease|Creutzfeldt Jakob Disease|Creutzfeldt-Jakob Disease|Creutzfeldt Jakob Disease, Familial|Creutzfeldt-Jakob Disease, Familial|CREUTZFELDT-JAKOB DISEASE, FAMILIAL CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED|CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT, INCLUDED|Creutzfeldt Jakob Disease, New Variant|Creutzfeldt-Jakob Disease, New Variant|Creutzfeldt-Jakob Diseases, Familial|Creutzfeldt Jakob Disease, Variant|Creutzfeldt-Jakob Disease, Variant|CREUTZFELDT-JAKOB DISEASE, VARIANT, INCLUDED|Creutzfeldt Jakob Syndrome|Disease, Creutzfeldt Jacob|Disease, Creutzfeldt-Jakob|Disease, Familial Creutzfeldt-Jakob|Disease, Jakob-Creutzfeldt|Encephalopathies, Subacute Spongiform|Encephalopathy, Subacute Spongiform|Familial Creutzfeldt Jakob Disease|Familial Creutzfeldt-Jakob Disease|Familial Creutzfeldt-Jakob Diseases|Jacob Disease, Creutzfeldt|Jakob Creutzfeldt Disease|Jakob-Creutzfeldt Disease|Jakob Creutzfeldt Syndrome|Jakob-Creutzfeldt Syndrome|New Variant Creutzfeldt Jakob Disease|New Variant Creutzfeldt-Jakob Disease|sCJD, INCLUDED|Spongiform Encephalopathies, Subacute|Spongiform Encephalopathy, Subacute|Subacute Spongiform Encephalopathies|Subacute Spongiform Encephalopathy|Syndrome, Creutzfeldt-Jakob|Syndrome, Jakob-Creutzfeldt|Variant Creutzfeldt Jakob Disease|Variant Creutzfeldt-Jakob Disease|vCJD, INCLUDED|V CJD (Variant Creutzfeldt Jakob Disease)|V-CJD (Variant-Creutzfeldt-Jakob Disease) Mental disorder|Nervous system disease Cri-du-Chat Syndrome MESH:D003410 DO:DOID:12580|OMIM:123450 An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-). MESH:D000015|MESH:D008607|MESH:D025063 C10.597.606.360.180|C16.131.077.262|C16.131.260.190|C16.320.180.190 C10.597.606.360|C16.131.077|C16.131.260|C16.320.180 5p Deletion Syndrome|5p Deletion Syndromes|5p Minus Syndrome|5p Minus Syndromes|5p Syndrome|5p- Syndrome|5p- Syndrome, Chromosome|5p- Syndromes|5p- Syndromes, Chromosome|Cat Cry Syndrome|Cat Cry Syndromes|Chromosome 5p Deletion Syndrome|Chromosome 5p- Syndrome|Chromosome 5p- Syndromes|Chromosome 5 Short Arm Deletion Syndrome|Cri du Chat Syndrome|Cri-du-Chat Syndromes|Crying Cat Syndrome|Crying Cat Syndromes|Deletion of Short Arm of Chromosome 5 Syndrome|Deletion Syndrome, 5p|Deletion Syndromes, 5p|Minus Syndrome, 5p|Minus Syndromes, 5p|Syndrome, 5p-|Syndrome, 5p Deletion|Syndrome, 5p Minus|Syndrome, Cat Cry|Syndrome, Chromosome 5p-|Syndrome, Cri-du-Chat|Syndrome, Crying Cat|Syndromes, 5p Deletion|Syndromes, 5p Minus|Syndromes, Cat Cry|Syndromes, Chromosome 5p-|Syndromes, Cri-du-Chat|Syndromes, Crying Cat Congenital abnormality|Genetic disease (inborn)|Nervous system disease Crigler-Najjar Syndrome MESH:D003414 DO:DOID:3803|OMIM:218800 A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation. MESH:D006933 C16.320.565.300.281|C18.452.648.300.281 C16.320.565.300|C18.452.648.300 Crigler Najar Syndrome|Crigler-Najar Syndrome|Crigler Najjar Syndrome|CRIGLER-NAJJAR SYNDROME|Crigler Najjar Syndromes|Crigler Najjar Syndrome, Type 1|Crigler Najjar Syndrome, Type I|Crigler-Najjar Syndrome, Type I|Familial Nonhemolytic Unconjugated Hyperbilirubinemia|HBLRCN1|Hereditary Unconjugated Hyperbilirubinemia|Hereditary Unconjugated Hyperbilirubinemias|HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I|Hyperbilirubinemia, Hereditary Unconjugated|Najjar Syndrome, Crigler|Syndrome, Crigler Najjar|Unconjugated Hyperbilirubinemia, Hereditary Genetic disease (inborn)|Metabolic disease Crigler Najjar syndrome, type 2 MESH:C536213 OMIM:606785 MESH:D003414 C16.320.565.300.281/C536213|C18.452.648.300.281/C536213 C16.320.565.300.281|C18.452.648.300.281 Crigler-Najjar Syndrome, Type II|HBLRCN2|HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II Genetic disease (inborn)|Metabolic disease Crisponi syndrome MESH:C536214 DO:DOID:0060294|OMIM:272430|OMIM:610313|OMIM:617055 MESH:D003645|MESH:D006228|MESH:D006945|MESH:D014313|MESH:D019066 C05.390.408/C536214|C05.660.585.988.425/C536214|C10.597.613.750.700/C536214|C16.131.621.585.988.500/C536214|C17.800.946.350/C536214|C23.550.260.322/C536214|C23.550.291.812/C536214|C23.888.592.608.750.700/C536214 C05.390.408|C05.660.585.988.425|C10.597.613.750.700|C16.131.621.585.988.500|C17.800.946.350|C23.550.260.322|C23.550.291.812|C23.888.592.608.750.700 CISS1|CISS2|CISS3, FORMERLY|CNTF receptor-related disorders|Cold-induced sweating syndrome|Cold-induced sweating syndrome 1|Cold-induced sweating syndrome 2|CRISPONI/COLD-INDUCED SWEATING SYNDROME 1|CRISPONI/COLD-INDUCED SWEATING SYNDROME 2|CRISPONI/COLD-INDUCED SWEATING SYNDROME 3, FORMERLY|CRISPONI SYNDROME|MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY, HYPERTHERMIA, AND SUDDEN DEATH|PERCHING|PERCHING SYNDROME|Sohar-Crisponi syndrome|Sweating, cold-induced Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Crisscross Heart MESH:D003420 A developmental malformation of the heart characterized by a twisted but not defective atrioventicular connection. The abnormal rotation of the ventricular mass around its long axis results in the crossing of the inflow streams of the two ventricles. Other features include hypoplasia of the TRICUSPID VALVE and RIGHT VENTRICLE. MESH:D006330 C14.240.400.220|C14.280.400.220|C16.131.240.400.220 C14.240.400|C14.280.400|C16.131.240.400 Criss cross Heart|Criss-cross Heart|Criss-cross Hearts|Crisscross Hearts|Heart, Criss-cross|Heart, Crisscross|Hearts, Criss-cross|Hearts, Crisscross Cardiovascular disease|Congenital abnormality Critical Illness MESH:D016638 A disease or state in which death is possible or imminent. MESH:D020969 C23.550.291.625 C23.550.291 Critical Illnesses|Critically Ill|Illness, Critical|Illnesses, Critical Pathology (process) Crohn Disease MESH:D003424 DO:DOID:0060192|DO:DOID:8778 A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients. MESH:D015212 C06.405.205.731.500|C06.405.469.432.500 C06.405.205.731|C06.405.469.432 Colitis, Granulomatous|Crohn's Disease|Crohns Disease|Crohn's Enteritis|Enteritis, Granulomatous|Enteritis, Regional|Granulomatous Colitis|Granulomatous Enteritis|Ileitis, Regional|Ileitis, Terminal|Ileocolitis|Inflammatory Bowel Disease 1|Regional Enteritis|Regional Ileitides|Regional Ileitis|Terminal Ileitis Digestive system disease Crome syndrome MESH:C536216 MESH:D001927|MESH:D002386|MESH:D058186 C10.228.140/C536216|C11.510.245/C536216|C12.050.351.968.419.780.050/C536216|C12.200.777.419.780.050/C536216|C12.950.419.780.050/C536216 C10.228.140|C11.510.245|C12.050.351.968.419.780.050|C12.200.777.419.780.050|C12.950.419.780.050 Eye disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Crossed Polydactyly, Type I MESH:C566783 MESH:D017689 C05.660.585.600/C566783|C16.131.621.585.600/C566783 C05.660.585.600|C16.131.621.585.600 Congenital abnormality|Musculoskeletal disease Cross Infection MESH:D003428 Any infection which a patient contracts in a health-care institution. MESH:D007049|MESH:D007239 C01.248|C23.550.291.875.500 C01|C23.550.291.875 Cross Infections|Healthcare Associated Infection|Health Care Associated Infection|Healthcare Associated Infections|Health Care Associated Infections|Hospital Infection|Hospital Infections|Infection, Cross|Infection, Healthcare Associated|Infection, Hospital|Infection, Nosocomial|Infections, Cross|Infections, Healthcare Associated|Infections, Hospital|Infections, Nosocomial|Nosocomial Infection|Nosocomial Infections Pathology (process) Croup MESH:D003440 DO:DOID:9395 Inflammation involving the GLOTTIS or VOCAL CORDS and the subglottic larynx. Croup is characterized by a barking cough, HOARSENESS, and persistent inspiratory STRIDOR (a high-pitched breathing sound). It occurs chiefly in infants and children. MESH:D007827 C08.360.535.365|C09.400.535.365 C08.360.535|C09.400.535 Croup, Postintubation|Croup, Spasmodic|Croup, Viral|Postintubation Croup|Spasmodic Croup|Viral Croup Ear-nose-throat disease|Respiratory tract disease Crouzon Syndrome With Acanthosis Nigricans MESH:C567382 OMIM:612247 MESH:D000052|MESH:D003394 C05.116.099.370.231/C567382|C05.660.207.231/C567382|C16.131.621.207.231/C567382|C17.800.621.430.530.100/C567382 C05.116.099.370.231|C05.660.207.231|C16.131.621.207.231|C17.800.621.430.530.100 CAN|Crouzonodermoskeletal Syndrome Congenital abnormality|Musculoskeletal disease|Skin disease Crumpled helices and small mouth MESH:C536217 MESH:D000015|MESH:D002972|MESH:D006130|MESH:D008844|MESH:D019066 C05.500.460.185/C536217|C05.500.460.457/C536217|C05.660.207.540.460.185/C536217|C05.660.207.540.460.457/C536217|C07.320.440.185/C536217|C07.320.440.457/C536217|C07.465.525.185/C536217|C07.650.500.460.185/C536217|C07.650.500.460.457/C536217|C07.650.525.185/C536217|C16.131.077/C536217|C16.131.621.207.540.460.185/C536217|C16.131.621.207.540.460.457/C536217|C16.131.850.500.460.185/C536217|C16.131.850.500.460.457/C536217|C16.131.850.525.185/C536217|C23.550.291.812/C536217|C23.550.393/C536217 C05.500.460.185|C05.500.460.457|C05.660.207.540.460.185|C05.660.207.540.460.457|C07.320.440.185|C07.320.440.457|C07.465.525.185|C07.650.500.460.185|C07.650.500.460.457|C07.650.525.185|C16.131.077|C16.131.621.207.540.460.185|C16.131.621.207.540.460.457|C16.131.850.500.460.185|C16.131.850.500.460.457|C16.131.850.525.185|C23.550.291.812|C23.550.393 Sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process) Crush Injuries MESH:D000071576 Excessive compression of parts of the body that causes muscle swelling, fracture, and/or neurological disturbances in the affected areas. Crush injury with systemic manifestations is referred to as CRUSH SYNDROME. MESH:D014947 C26.257 C26 Crush Fracture|Crush Fractures|Crush Injury|Fracture, Crush|Fractures, Crush|Injuries, Crush|Injury, Crush Wounds and injuries Crush Syndrome MESH:D003444 Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia. MESH:D000071576|MESH:D012774 C26.257.500|C26.797.240 C26.257|C26.797 Crush Syndromes|Syndrome, Crush|Syndromes, Crush Wounds and injuries Cryofibrinogenemia MESH:C536218 MESH:D003449 C14.907.454.140/C536218|C15.378.147.780.243/C536218|C15.378.463.515.140/C536218|C17.800.862.201/C536218|C20.683.780.250/C536218 C14.907.454.140|C15.378.147.780.243|C15.378.463.515.140|C17.800.862.201|C20.683.780.250 Blood disease|Cardiovascular disease|Immune system disease|Skin disease Cryofibrinogenemia, Familial Primary MESH:C565142 MESH:D003449 C14.907.454.140/C565142|C15.378.147.780.243/C565142|C15.378.463.515.140/C565142|C17.800.862.201/C565142|C20.683.780.250/C565142 C14.907.454.140|C15.378.147.780.243|C15.378.463.515.140|C17.800.862.201|C20.683.780.250 Blood disease|Cardiovascular disease|Immune system disease|Skin disease Cryoglobulinemia MESH:D003449 DO:DOID:2917 A condition characterized by the presence of abnormal quantities of CRYOGLOBULINS in the blood. Upon cold exposure, these abnormal proteins precipitate into the microvasculature leading to restricted blood flow in the exposed areas. MESH:D010265|MESH:D017445|MESH:D020141 C14.907.454.140|C15.378.147.780.243|C15.378.463.515.140|C17.800.862.201|C20.683.780.250 C14.907.454|C15.378.147.780|C15.378.463.515|C17.800.862|C20.683.780 Cryoglobulinemias Blood disease|Cardiovascular disease|Immune system disease|Skin disease Cryoglobulinemia, Familial Mixed MESH:C565141 MESH:D003449|MESH:D030342 C14.907.454.140/C565141|C15.378.147.780.243/C565141|C15.378.463.515.140/C565141|C16.320/C565141|C17.800.862.201/C565141|C20.683.780.250/C565141 C14.907.454.140|C15.378.147.780.243|C15.378.463.515.140|C16.320|C17.800.862.201|C20.683.780.250 Meltzer Syndrome Blood disease|Cardiovascular disease|Genetic disease (inborn)|Immune system disease|Skin disease Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly MESH:C563840 OMIM:608885 MESH:D002386|MESH:D006529|MESH:D006947|MESH:D008607|MESH:D012640|MESH:D013163 C06.552.416/C563840|C10.597.606.360/C563840|C10.597.742/C563840|C11.510.245/C563840|C18.452.950.396/C563840|C23.300.775.525/C563840|C23.300.775.750/C563840|C23.888.592.604.646/C563840|C23.888.592.742/C563840|F03.625.539/C563840 C06.552.416|C10.597.606.360|C10.597.742|C11.510.245|C18.452.950.396|C23.300.775.525|C23.300.775.750|C23.888.592.604.646|C23.888.592.742|F03.625.539 CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY|GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS|SDCHCN|Stomatin-Deficient Cryohydrocytosis with Neurologic Defects Digestive system disease|Eye disease|Mental disorder|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Cryopyrin-Associated Periodic Syndromes MESH:D056587 DO:DOID:0050854|OMIM:120100|OMIM:607115|OMIM:614468|OMIM:616115 A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations. MESH:D000094482|MESH:D056660 C16.320.382.500|C17.800.827.368.500|C17.800.862.945.533.500.500|C20.543.480.904.533.500.500|C23.550.291.500.360.500.500 C16.320.382|C17.800.827.368|C17.800.862.945.533.500|C20.543.480.904.533.500|C23.550.291.500.360.500 ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED|CAPS1|CAPS3|Chronic Infantile Neurological, Cutaneous, and Articular Syndrome|Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome|Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome|Chronic Neurologic Cutaneous and Articular Syndrome|Chronic Neurologic, Cutaneous, and Articular Syndrome|CINCA|CINCA Syndrome|COLD HYPERSENSITIVITY|Cold Induced Autoinflammatory Syndrome, Familial|Cold-Induced Autoinflammatory Syndrome, Familial|Cold Urticaria, Familial|Cryopyrin Associated Periodic Syndrome|Cryopyrin-Associated Periodic Syndrome|CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1|CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3|Cryopyrin Associated Periodic Syndromes|Cryopyrinopathies|Cryopyrinopathy|FACU|FAMILIAL ATYPICAL COLD URTICARIA|Familial Cold Autoinflammatory Syndrome|Familial Cold Autoinflammatory Syndrome 1|FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3|FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4|Familial Cold Induced Autoinflammatory Syndrome|Familial Cold-Induced Autoinflammatory Syndrome|Familial Cold Urticaria|Familial Cold Urticarias|FCAS|FCAS1|FCAS3|FCAS4|FCU|Infantile Onset Multisystem Inflammatory Disease|IOMID|IOMID Syndrome|IOMID Syndromes|Muckle Wells Syndrome|Muckle-Wells Syndrome|Multisystem Inflammatory Disease, Neonatal Onset|Multisystem Inflammatory Disease, Neonatal-Onset|Neonatal Onset Multisystem Inflammatory Disease|NOMID|PLAID|Prieur Griscelli Syndrome|Prieur-Griscelli Syndrome|Prieur-Griscelli Syndromes|Syndrome, IOMID|Syndrome, Muckle-Wells|Syndrome, Prieur-Griscelli|Syndrome, UDA|Syndrome, Urticaria-Deafness-Amyloidosis|UDA Syndrome|UDA Syndromes|Urticaria Deafness Amyloidosis Syndrome|Urticaria-Deafness-Amyloidosis Syndrome|Urticaria-Deafness-Amyloidosis Syndromes|Urticaria, Deafness and Amyloidosis|Urticaria, Familial Cold Genetic disease (inborn)|Immune system disease|Pathology (process)|Skin disease Cryptococcosis MESH:D003453 DO:DOID:12053 Fungal infection caused by genus CRYPTOCOCCUS. MESH:D009181 C01.150.703.248 C01.150.703 C gattii Infection|C. gattii Infection|C gattii Infections|C. gattii Infections|C neoformans Infection|C. neoformans Infection|C neoformans Infections|C. neoformans Infections|Cryptococcoses|Cryptococcus gattii Infection|Cryptococcus gattii Infections|Cryptococcus Infection|Cryptococcus Infections|Cryptococcus neoformans Infection|Cryptococcus neoformans Infections|Infection, C gattii|Infection, C. gattii|Infection, C neoformans|Infection, C. neoformans|Infection, Cryptococcus|Infection, Cryptococcus gattii|Infection, Cryptococcus neoformans|Infections, C gattii|Infections, C. neoformans|Toruloses|Torulosis Bacterial infection or mycosis Cryptogenic Organizing Pneumonia MESH:D018549 DO:DOID:0050157 An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a 'pneumonia-like' illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts. MESH:D000092124|MESH:D054988 C08.127.446.135.140.600.750|C08.381.483.652.500.750.249|C08.381.495.146.135.140.600.750 C08.127.446.135.140.600|C08.381.483.652.500.750|C08.381.495.146.135.140.600 BOOP Bronchiolitis Obliterans Organizing Pneumonia|Bronchiolitis Obliterans Organizing Pneumonia|Cryptogenic Organizing Pneumonias|Organizing Pneumonia, Cryptogenic|Organizing Pneumonia, Primary|Organizing Pneumonias, Primary|Pneumonia, Cryptogenic Organizing|Pneumonia, Primary Organizing|Primary Organizing Pneumonia|Primary Organizing Pneumonias Respiratory tract disease Cryptomicrotia brachydactyly syndrome MESH:C536219 MESH:D000015|MESH:D059327 C05.660.585.262/C536219|C16.131.077/C536219|C16.131.621.585.262/C536219 C05.660.585.262|C16.131.077|C16.131.621.585.262 Cryptomicrotia-Brachydactyly Syndrome|Cryptomicrotia brachydactyly syndrome excess fingertip arch|Tonoki Ohura Niikawa syndrome Congenital abnormality|Musculoskeletal disease Cryptophthalmos, Unilateral or Bilateral, Isolated MESH:C565138 DO:DOID:0111717 MESH:D005124|MESH:D005141 C11.250/C565138|C11.338/C565138|C16.131.384/C565138 C11.250|C11.338|C16.131.384 Ankyloblepharon, Simple|Cryptophthalmos with Microphthalmia and Peters Anomaly Congenital abnormality|Eye disease Cryptorchidism MESH:D003456 DO:DOID:11383|OMIM:219050 A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis. MESH:D013733|MESH:D014564 C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C16.131.939.258|C19.391.829.258 C12.100.500.829|C12.200.294.829|C12.200.706|C12.800|C16.131.939|C19.391.829 Abdominal Cryptorchidism|Bilateral Cryptorchidism|Cryptorchidism, Abdominal|Cryptorchidism, Bilateral|Cryptorchidism, Inguinal|Cryptorchidism, Unilateral|Cryptorchidism, Unilateral Or Bilateral|Cryptorchism|Inguinal Cryptorchidism|Testes, Undescended|Testis, Undescended|Undescended Testes|Undescended Testis|Unilateral Cryptorchidism Congenital abnormality|Endocrine system disease|Urogenital disease (male) Cryptosporidiosis MESH:D003457 DO:DOID:1733 Intestinal infection with organisms of the genus CRYPTOSPORIDIUM. It occurs in both animals and humans. Symptoms include severe DIARRHEA. MESH:D003048|MESH:D007411|MESH:D011529 C01.610.432.269|C01.610.701.688.235|C01.610.752.250.269|C01.610.752.625.235|C06.405.469.452.269|C22.674.710.235 C01.610.432|C01.610.701.688|C01.610.752.250|C01.610.752.625|C06.405.469.452|C22.674.710 Cryptosporidioses|Cryptosporidium Infection|Cryptosporidium Infections|Infection, Cryptosporidium Animal disease|Digestive system disease|Parasitic disease Cryptotia, Familial MESH:C565140 MESH:D000013 C16.131/C565140 C16.131 Congenital abnormality Crystal Arthropathies MESH:D000070657 Joint disorders that are characterized by accumulation of microcrystals in and around the joint including in the SYNOVIAL FLUID. They are classified according to the chemical nature of the crystals such as CALCIUM PYROPHOSPHATE; basic CALCIUM PHOSPHATES; and monosodium urate (see URIC ACID). MESH:D007592 C05.550.354 C05.550 Arthritides, Crystal|Arthritides, Crystalline|Arthritis, Crystal|Arthritis, Crystalline|Arthropathies, Crystal|Arthropathies, Crystalline|Arthropathy, Crystal|Arthropathy, Crystalline|Crystal Arthritides|Crystal Arthritis|Crystal Arthropathy|Crystalline Arthritides|Crystalline Arthritis|Crystalline Arthropathies|Crystalline Arthropathy Musculoskeletal disease Crystalluria MESH:D000092162 Crystals in the URINE found in urinary sediment analysis. Urinary crystalline may be formed from various metabolites (e.g., CALCIUM OXALATES; CALCIUM PHOSPHATES; URATES) and drugs (e.g., SULPHADIAZINE; ACYCLOVIR; and TRIAMTERENE). MESH:D020924 C23.888.942.169 C23.888.942 Crystallurias Signs and symptoms CSNB1C MESH:C567704 MESH:D009755|MESH:D015785 C11.270/C567704|C11.966.671/C567704|C16.320.290/C567704 C11.270|C11.966.671|C16.320.290 Night Blindness, Congenital Stationary, Type 1C Eye disease|Genetic disease (inborn) C SYNDROME OMIM:211750 DO:DOID:0111581 MESH:D003398|MESH:D009140|MESH:D011596|MESH:D012871|MESH:D019066 C05.116.099.370.894.232/211750|C05/211750|C05.660.207.240/211750|C05.660.906.364/211750|C10.597.606.881/211750|C16.131.621.207.240/211750|C16.131.621.906.364/211750|C17.800/211750|C23.550.291.812/211750|C23.888.592.604.882/211750 C05|C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C10.597.606.881|C16.131.621.207.240|C16.131.621.906.364|C17.800|C23.550.291.812|C23.888.592.604.882 OPITZ TRIGONOCEPHALY SYNDROME|TRIGONOCEPHALY SYNDROME Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease CTNL1 MESH:C538444 MESH:D020159 C10.228.140.163.100.937.374/C538444|C16.320.565.100.940.374/C538444|C16.320.565.189.937.374/C538444|C18.452.132.100.937.374/C538444|C18.452.648.100.940.374/C538444|C18.452.648.189.937.374/C538444 C10.228.140.163.100.937.374|C16.320.565.100.940.374|C16.320.565.189.937.374|C18.452.132.100.937.374|C18.452.648.100.940.374|C18.452.648.189.937.374 Genetic disease (inborn)|Metabolic disease|Nervous system disease Cubital Tunnel Syndrome MESH:D020430 Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43) MESH:D017769|MESH:D020424 C10.668.829.500.850.200|C10.668.829.550.925.200|C26.844.150.957.200 C10.668.829.500.850|C10.668.829.550.925|C26.844.150.957 Cubital Tunnel Syndromes|Syndrome, Cubital Tunnel|Syndromes, Cubital Tunnel|Tunnel Syndrome, Cubital|Tunnel Syndromes, Cubital|Ulnar Nerve Compression, Cubital Tunnel|Ulnar Nerve Entrapment, Elbow Nervous system disease|Wounds and injuries Cubitus Valgus with Mental Retardation and Unusual Facies MESH:C564510 OMIM:300471 MESH:D008607|MESH:D019066|MESH:D038062 C05.660.585.988/C564510|C10.597.606.360/C564510|C16.131.621.585.988/C564510|C23.550.291.812/C564510|C23.888.592.604.646/C564510|F03.625.539/C564510 C05.660.585.988|C10.597.606.360|C16.131.621.585.988|C23.550.291.812|C23.888.592.604.646|F03.625.539 CUBITUS VALGUS WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND UNUSUAL FACIES Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms CULLER-JONES SYNDROME OMIM:615849 DO:DOID:0080328 MESH:D054975 C04.445.622/615849|C04.588.614.250.195.885.500.299/615849|C05.660.585.600.374/615849|C10.228.140.211.885.500.299/615849|C10.228.140.617.477.299/615849|C10.551.240.250.700.500.249/615849|C16.131.077.690/615849|C16.131.621.585.600.374/615849 C04.445.622|C04.588.614.250.195.885.500.299|C05.660.585.600.374|C10.228.140.211.885.500.299|C10.228.140.617.477.299|C10.551.240.250.700.500.249|C16.131.077.690|C16.131.621.585.600.374 CJS|PALLISTER-HALL SYNDROME 2, FORMERLY|PHS2, FORMERLY Cancer|Congenital abnormality|Musculoskeletal disease|Nervous system disease Cumulative Trauma Disorders MESH:D012090 Harmful and painful condition caused by overuse or overexertion of some part of the musculoskeletal system, often resulting from work-related physical activities. It is characterized by inflammation, pain, or dysfunction of the involved joints, bones, ligaments, and nerves. MESH:D013180 C26.844.150 C26.844 Cumulative Trauma Disorder|Injury, Overuse|Injury, Repetition Strain|Injury, Repetitive Strain|Injury, Repetitive Stress|Motion Disorder, Repetitive|Overuse Injuries|Overuse Injury|Overuse Syndrome|Overuse Syndromes|Repetition Strain Injuries|Repetition Strain Injury|Repetitive Motion Disorder|Repetitive Motion Disorders|Repetitive Strain Injuries|Repetitive Strain Injury|Repetitive Stress Injuries|Repetitive Stress Injury|Strain Injury, Repetition|Strain Injury, Repetitive|Stress Injury, Repetitive|Trauma Disorder, Cumulative|Trauma Disorders, Cumulative Wounds and injuries Cunninghamella bertholletiae infection MESH:C000656946 MESH:D009091 C01.150.703.980.600/C000656946 C01.150.703.980.600 C bertholletiae infection|C. bertholletiae infection|C bertholletiae infections|C. bertholletiae infections|Cunninghamella bertholletiae infections|Cunninghamella infection|Cunninghamella infections Bacterial infection or mycosis Curatolo Cilio Pessagno syndrome MESH:C536701 MESH:D006130|MESH:D008607|MESH:D054220|MESH:D061085 C10.500.034/C536701|C10.500.507/C536701|C10.597.606.360/C536701|C16.131.666.034/C536701|C16.131.666.507/C536701|C23.300.008/C536701|C23.550.393/C536701|C23.888.592.604.646/C536701|F03.625.539/C536701 C10.500.034|C10.500.507|C10.597.606.360|C16.131.666.034|C16.131.666.507|C23.300.008|C23.550.393|C23.888.592.604.646|F03.625.539 White matter hypoplasia, corpus callosum agenesia, and mental retardation Congenital abnormality|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms Curly hair-acral keratoderma-caries syndrome MESH:C536220 MESH:D003731|MESH:D007642|MESH:D009264|MESH:D019465 C05.660.207/C536220|C07.793.720.210/C536220|C16.131.621.207/C536220|C17.800.428/C536220|C23.300.820/C536220 C05.660.207|C07.793.720.210|C16.131.621.207|C17.800.428|C23.300.820 Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition)|Skin disease Curly hair-ankyloblepharon-nail dysplasia syndrome MESH:C538074 MESH:D005141|MESH:D006201|MESH:D009264 C11.338/C538074|C17.800.329/C538074|C23.300.820/C538074 C11.338|C17.800.329|C23.300.820 CHANDS Eye disease|Pathology (anatomical condition)|Skin disease Currarino triad MESH:C536221 DO:DOID:0111546|OMIM:176450 MESH:D004065|MESH:D013595 C06.198/C536221|C10.228.854.833/C536221|C16.131.314/C536221 C06.198|C10.228.854.833|C16.131.314 Currarino syndrome|CURRARINO TRIAD SACRAL AGENESIS SYNDROME, INCLUDED|SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION, INCLUDED|SCRA1, INCLUDED Congenital abnormality|Digestive system disease|Nervous system disease Cushing's symphalangism MESH:C536223 OMIM:185800 MESH:D007592 C05.550/C536223 C05.550 Cushing Symphalangism|Hereditary absence of proximal interphalangeal joints|Hereditary Absence of the Proximal Interphalangeal Joints|Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome|Strasburger-Hawkins-Eldridge syndrome|SYM1|SYM1A|Symphalangism, Proximal|SYMPHALANGISM, PROXIMAL, 1A|Vessel's syndrome Musculoskeletal disease Cushing Syndrome MESH:D003480 DO:DOID:446 A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent. MESH:D000308 C19.053.800.367 C19.053.800 Cushing's Syndrome|Hypercortisolism|Syndrome, Cushing|Syndrome, Cushing's Endocrine system disease Cutaneous anthrax MESH:C531621 DO:DOID:7426 MESH:D000881|MESH:D017192 C01.150.252.410.090.072/C531621|C01.150.252.819/C531621|C01.800.720/C531621|C17.800.838.765/C531621 C01.150.252.410.090.072|C01.150.252.819|C01.800.720|C17.800.838.765 Anthrax, skin type|Skin anthrax Bacterial infection or mycosis|Skin disease Cutaneous Fistula MESH:D017577 An abnormal passage or communication leading from an internal organ to the surface of the body. MESH:D005402|MESH:D012871 C17.800.135|C23.300.575.150 C17.800|C23.300.575 Cutaneous Fistulas|External Fistula|External Fistulas|Fistula, Cutaneous|Fistula, External|Fistulas, Cutaneous|Fistulas, External|Fistula, Skin|Fistulas, Skin|Skin Fistula|Skin Fistulas Pathology (anatomical condition)|Skin disease Cutaneous photosensitivity and colitis, lethal MESH:C536224 MESH:D003092|MESH:D010787 C06.405.205.265/C536224|C06.405.469.158.188/C536224|C17.800.600/C536224 C06.405.205.265|C06.405.469.158.188|C17.800.600 Early cutaneous photosensitivity and severe colitis Digestive system disease|Skin disease CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL OMIM:614564 MESH:D000505|MESH:D009959|MESH:D013684 C04.588.443.665.710.684/614564|C07.550.745.671/614564|C09.647.710.685/614564|C09.775.549.685/614564|C14.907.823/614564|C17.800.329.937.122/614564|C23.300.035/614564 C04.588.443.665.710.684|C07.550.745.671|C09.647.710.685|C09.775.549.685|C14.907.823|C17.800.329.937.122|C23.300.035 FCTCS|TELANGIECTASIA, CUTANEOUS, AND CANCER SYNDROME, FAMILIAL Cancer|Cardiovascular disease|Ear-nose-throat disease|Mouth disease|Pathology (anatomical condition)|Skin disease Cutis Gyrata Syndrome of Beare And Stevenson MESH:C565129 OMIM:123790 MESH:D000052|MESH:D003398|MESH:D012536|MESH:D012868 C05.116.099.370.894.232/C565129|C05.660.207.240/C565129|C05.660.906.364/C565129|C16.131.621.207.240/C565129|C16.131.621.906.364/C565129|C16.131.831/C565129|C17.800.621.430.530.100/C565129|C17.800.738/C565129|C17.800.804/C565129 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364|C16.131.831|C17.800.621.430.530.100|C17.800.738|C17.800.804 Beare-Stevenson Cutis Gyrata Syndrome|BEARE-STEVENSON SYNDROME|BSTVS|CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON|Cutis Gyrata Syndrome of Beare-Stevenson Congenital abnormality|Musculoskeletal disease|Skin disease Cutis Laxa MESH:D003483 DO:DOID:3144 A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed) MESH:D003240|MESH:D012873 C16.320.850.180|C17.300.230|C17.800.827.180 C16.320.850|C17.300|C17.800.827 Dermatolyses|Dermatolysis|Dermatomegaly Connective tissue disease|Genetic disease (inborn)|Skin disease Cutis Laxa, Autosomal Dominant MESH:C562627 OMIM:123700|OMIM:614434|OMIM:616603 MESH:D003483 C16.320.850.180/C562627|C17.300.230/C562627|C17.800.827.180/C562627 C16.320.850.180|C17.300.230|C17.800.827.180 ADCL1|ADCL2|ADCL3|CUTIS LAXA, AUTOSOMAL DOMINANT 1|CUTIS LAXA, AUTOSOMAL DOMINANT 2|CUTIS LAXA, AUTOSOMAL DOMINANT 3 Connective tissue disease|Genetic disease (inborn)|Skin disease Cutis Laxa, Autosomal Recessive, Type I MESH:C562628 DO:DOID:0070144 MESH:D003483 C16.320.850.180/C562628|C17.300.230/C562628|C17.800.827.180/C562628 C16.320.850.180|C17.300.230|C17.800.827.180 Cutis Laxa, Autosomal Recessive Connective tissue disease|Genetic disease (inborn)|Skin disease CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA OMIM:219100 DO:DOID:0070135 MESH:C536225 C16.320.850.180/C536225/219100|C17.300.230/C536225/219100|C17.800.827.180/C536225/219100 C16.320.850.180/C536225|C17.300.230/C536225|C17.800.827.180/C536225 ARCL1|ARCL1A|CUTIS LAXA, AUTOSOMAL RECESSIVE Connective tissue disease|Genetic disease (inborn)|Skin disease CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB OMIM:614437 DO:DOID:0070133 MESH:C536225 C16.320.850.180/C536225/614437|C17.300.230/C536225/614437|C17.800.827.180/C536225/614437 C16.320.850.180/C536225|C17.300.230/C536225|C17.800.827.180/C536225 ARCL1B Connective tissue disease|Genetic disease (inborn)|Skin disease Cutis Laxa, Autosomal Recessive, Type IIA MESH:C562632 OMIM:219200 MESH:D003483 C16.320.850.180/C562632|C17.300.230/C562632|C17.800.827.180/C562632 C16.320.850.180|C17.300.230|C17.800.827.180 ARCL2|ARCL2A|Cutis Laxa, Debre Type|Cutis Laxa With Bone Dystrophy|CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION|Cutis Laxa With Growth And Developmental Delay|Cutis Laxa With Joint Laxity And Retarded Development|Cutis Laxa With Or Without Congenital Disorder Of Glycosylation Connective tissue disease|Genetic disease (inborn)|Skin disease Cutis Laxa, Autosomal Recessive, Type IIB MESH:C567855 OMIM:612940 MESH:D003483 C16.320.850.180/C567855|C17.300.230/C567855|C17.800.827.180/C567855 C16.320.850.180|C17.300.230|C17.800.827.180 ARCL2B|Cutis Laxa With Progeroid Features Connective tissue disease|Genetic disease (inborn)|Skin disease CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC OMIM:617402 DO:DOID:0070140 MESH:C536225 C16.320.850.180/C536225/617402|C17.300.230/C536225/617402|C17.800.827.180/C536225/617402 C16.320.850.180/C536225|C17.300.230/C536225|C17.800.827.180/C536225 ARCL2C Connective tissue disease|Genetic disease (inborn)|Skin disease CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID OMIM:617403 DO:DOID:0070129 MESH:C536225 C16.320.850.180/C536225/617403|C17.300.230/C536225/617403|C17.800.827.180/C536225/617403 C16.320.850.180/C536225|C17.300.230/C536225|C17.800.827.180/C536225 ARCL2D Connective tissue disease|Genetic disease (inborn)|Skin disease CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA OMIM:219150 DO:DOID:0070132 MESH:C536225 C16.320.850.180/C536225/219150|C17.300.230/C536225/219150|C17.800.827.180/C536225/219150 C16.320.850.180/C536225|C17.300.230/C536225|C17.800.827.180/C536225 ARCL3A|CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION|DE BARSY SYNDROME A|PROGEROID SYNDROME OF DE BARSY Connective tissue disease|Genetic disease (inborn)|Skin disease CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB OMIM:614438 DO:DOID:0070138 MESH:C536225 C16.320.850.180/C536225/614438|C17.300.230/C536225/614438|C17.800.827.180/C536225/614438 C16.320.850.180/C536225|C17.300.230/C536225|C17.800.827.180/C536225 ARCL3B|DE BARSY SYNDROME B Connective tissue disease|Genetic disease (inborn)|Skin disease Cutis Laxa-Marfanoid Syndrome MESH:C563639 MESH:D003483|MESH:D007232|MESH:D008382 C05.116.099.674/C563639|C14.240.400.725/C563639|C14.280.400.725/C563639|C16.131.077.550/C563639|C16.131.240.400.720/C563639|C16.320.540/C563639|C16.320.850.180/C563639|C16.614/C563639|C17.300.230/C563639|C17.300.500/C563639|C17.800.827.180/C563639 C05.116.099.674|C14.240.400.725|C14.280.400.725|C16.131.077.550|C16.131.240.400.720|C16.320.540|C16.320.850.180|C16.614|C17.300.230|C17.300.500|C17.800.827.180 Neonatal Cutis Laxa With Marfanoid Phenotype Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease|Skin disease Cutis laxa, recessive MESH:C536225 MESH:D003483 C16.320.850.180/C536225|C17.300.230/C536225|C17.800.827.180/C536225 C16.320.850.180|C17.300.230|C17.800.827.180 Cutis laxa, type 1 Connective tissue disease|Genetic disease (inborn)|Skin disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities MESH:C567716 DO:DOID:0070139|OMIM:613177 MESH:D002357|MESH:D003483|MESH:D005767|MESH:D012140|MESH:D014570 C05.182/C567716|C06.405/C567716|C08/C567716|C12.050.351.968/C567716|C12.200.777/C567716|C12.950/C567716|C16.320.850.180/C567716|C17.300.182/C567716|C17.300.230/C567716|C17.800.827.180/C567716 C05.182|C06.405|C08|C12.050.351.968|C12.200.777|C12.950|C16.320.850.180|C17.300.182|C17.300.230|C17.800.827.180 ARCL1C|CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC|CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES|Urban-Rifkin-Davis Syndrome|URDS Connective tissue disease|Digestive system disease|Genetic disease (inborn)|Musculoskeletal disease|Respiratory tract disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) Cutis marmorata telangiectatica congenita MESH:C536226 MESH:D013684|MESH:D054068 C14.907.355.830.573.500/C536226|C14.907.617.625/C536226|C14.907.823/C536226|C17.800.862.406.500/C536226|C23.888.885.437/C536226 C14.907.355.830.573.500|C14.907.617.625|C14.907.823|C17.800.862.406.500|C23.888.885.437 Hereditary cutis marmorata telangiectatica congenita Cardiovascular disease|Signs and symptoms|Skin disease Cutis Verticis Gyrata and Mental Deficiency MESH:C565661 MESH:D008607|MESH:D012536 C10.597.606.360/C565661|C17.800.738/C565661|C23.888.592.604.646/C565661|F03.625.539/C565661 C10.597.606.360|C17.800.738|C23.888.592.604.646|F03.625.539 Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness MESH:C565306 MESH:D006319|MESH:D012174|MESH:D012536 C09.218.458.341.887/C565306|C10.597.751.418.341.887/C565306|C11.270.684/C565306|C11.768.585.658.500/C565306|C16.320.290.684/C565306|C17.800.738/C565306|C23.888.592.763.393.341.887/C565306 C09.218.458.341.887|C10.597.751.418.341.887|C11.270.684|C11.768.585.658.500|C16.320.290.684|C17.800.738|C23.888.592.763.393.341.887 Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease Cyanosis MESH:D003490 A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. MESH:D012816 C23.888.248 C23.888 Cyanoses Signs and symptoms Cyanosis and Hepatic Disease MESH:C565660 MESH:D003490|MESH:D008107 C06.552/C565660|C23.888.248/C565660 C06.552|C23.888.248 Digestive system disease|Signs and symptoms CYANOSIS, TRANSIENT NEONATAL OMIM:613977 MESH:D003490 C23.888.248/613977 C23.888.248 TNCY Signs and symptoms Cyclic neutropenia MESH:C536227 DO:DOID:5339|OMIM:162800 MESH:D009503 C15.378.553.546.184.564/C536227 C15.378.553.546.184.564 Cyclic Hematopoesis|Cyclic hematopoiesis|Cyclic Leucopenia|Neutropenia, cyclic|Periodic Neutropenia Blood disease Cyclic Vomiting Syndrome-Plus MESH:C564023 MESH:D014839 C23.888.821.937/C564023 C23.888.821.937 CVS-Plus Signs and symptoms Cyclic Vomiting Syndrome with Neuromuscular Disease MESH:C564022 MESH:D009468|MESH:D014839 C10.668/C564022|C23.888.821.937/C564022 C10.668|C23.888.821.937 Nervous system disease|Signs and symptoms Cyclodialysis Clefts MESH:D000080322 Finding of a separation of the CILIARY BODY in the SCLERAL SPUR region, creating aqueous outflow from the ANTERIOR CHAMBER into suprachoroidal space between the CHOROID and the SCLERA. Persistent cyclodialysis clefts may be associated with OCULAR HYPOTENSION and OPTIC DISC EDEMA. MESH:D000080324 C11.250.105.250|C11.941.160.241.250 C11.250.105|C11.941.160.241 Cleft, Cyclodialysis|Cleft, Persistent Cyclodialysis|Cyclodialyses, Traumatic|Cyclodialysis Cleft|Cyclodialysis Cleft, Persistent|Cyclodialysis, Traumatic|Persistent Cyclodialysis Cleft|Persistent Cyclodialysis Clefts|Traumatic Cyclodialysis Eye disease cyclopia sequence MESH:C562573 MESH:D016142 C05.660.207.410/C562573|C10.500.034.875/C562573|C16.131.077.410/C562573|C16.131.260.380/C562573|C16.131.621.207.410/C562573|C16.131.666.034.875/C562573|C16.320.180.380/C562573 C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 cyclocephaly|Cyclopia|Cyclopia defect|cyclopian defect|Demyer Sequence|Holoprosencephaly 1|synophthalmia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Cyclosporiasis MESH:D021866 DO:DOID:12750 Infection with parasitic protozoa of the genus CYCLOSPORA. It is distributed globally and causes a diarrheal illness. Transmission is waterborne. MESH:D003048 C01.610.752.250.280 C01.610.752.250 Cyclospora Infection|Cyclospora Infections|Cyclosporiases|Infection, Cyclospora|Infections, Cyclospora Parasitic disease Cyclothymic Disorder MESH:D003527 DO:DOID:845 An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood. MESH:D019964 F03.600.500 F03.600 Cyclothymia|Cyclothymic Disorders|Cyclothymic Personalities|Cyclothymic Personality|Disorder, Cyclothymic|Personality, Cyclothymic Mental disorder cyclotropia MESH:C000721272 DO:DOID:9838 MESH:D013285|MESH:D015835 C10.228.758/C000721272|C10.292.562.887/C000721272|C10.292.562/C000721272|C11.590.810/C000721272|C11.590/C000721272 C10.228.758|C10.292.562|C10.292.562.887|C11.590|C11.590.810 excyclotropia|incyclotropia Eye disease|Nervous system disease Cyprus facial neuromusculoskeletal syndrome MESH:C536229 MESH:D001176|MESH:D009468|MESH:D019066 C05.550.150/C536229|C05.651.102/C536229|C05.660.077/C536229|C10.668/C536229|C16.131.621.077/C536229|C23.550.291.812/C536229 C05.550.150|C05.651.102|C05.660.077|C10.668|C16.131.621.077|C23.550.291.812 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process) Cystadenocarcinoma MESH:D003536 DO:DOID:3111 A malignant neoplasm derived from glandular epithelium, in which cystic accumulations of retained secretions are formed. The neoplastic cells manifest varying degrees of anaplasia and invasiveness, and local extension and metastases occur. Cystadenocarcinomas develop frequently in the ovaries, where pseudomucinous and serous types are recognized. (Stedman, 25th ed) MESH:D000230|MESH:D018297 C04.557.470.200.025.480|C04.557.470.590.480 C04.557.470.200.025|C04.557.470.590 Cystadenocarcinomas Cancer Cystadenocarcinoma, Mucinous MESH:D018282 DO:DOID:3603 A malignant cystic or semisolid tumor most often occurring in the ovary. Rarely, one is solid. This tumor may develop from a mucinous cystadenoma, or it may be malignant at the onset. The cysts are lined with tall columnar epithelial cells; in others, the epithelium consists of many layers of cells that have lost normal structure entirely. In the more undifferentiated tumors, one may see sheets and nests of tumor cells that have very little resemblance to the parent structure. (Hughes, Obstetric-Gynecologic Terminology, 1972, p184) MESH:D003536 C04.557.470.200.025.480.225|C04.557.470.590.480.225 C04.557.470.200.025.480|C04.557.470.590.480 Cystadenocarcinomas, Mucinous|Mucinous Cystadenocarcinoma|Mucinous Cystadenocarcinomas Cancer Cystadenocarcinoma, Papillary MESH:D018283 DO:DOID:3110 An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface. MESH:D003536 C04.557.470.200.025.480.230|C04.557.470.590.480.230 C04.557.470.200.025.480|C04.557.470.590.480 Cystadenocarcinomas, Papillary|Papillary Cystadenocarcinoma|Papillary Cystadenocarcinomas Cancer Cystadenocarcinoma, Serous MESH:D018284 DO:DOID:3114 A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185) MESH:D003536 C04.557.470.200.025.480.240|C04.557.470.590.480.240 C04.557.470.200.025.480|C04.557.470.590.480 Cystadenocarcinomas, Serous|Serous Cystadenocarcinoma|Serous Cystadenocarcinomas Cancer Cystadenofibroma MESH:D062625 DO:DOID:5477|DO:DOID:5482 Benign or borderline malignant neoplasm of the ovary and surrounding tissues. It is characterized by tumor(s) with cystic glands which are lined by cuboidal EPITHELIAL CELLS with clear cytoplasm, resembling ENDOMETRIUM cells. The glands are separated by fibroblastic STROMAL CELLS. MESH:D000232|MESH:D018297 C04.557.450.565.590.595.050.500|C04.557.470.590.482|C04.557.470.625.050.500 C04.557.450.565.590.595.050|C04.557.470.590|C04.557.470.625.050 Adenofibroma, Clear Cell|Adenofibromas, Clear Cell|Benign Clear Cell Adenofibroma|Benign Cystadenofibroma|Benign Cystadenofibromas|Borderline Clear Cell Adenofibroma|Borderline Cystadenofibroma|Borderline Cystadenofibromas|Clear Cell Adenofibroma|Clear Cell Adenofibromas|Cystadenofibroma, Benign|Cystadenofibroma, Borderline|Cystadenofibromas|Cystadenofibromas, Benign|Cystadenofibromas, Borderline Cancer Cystadenoma MESH:D003537 DO:DOID:2634 A benign neoplasm derived from glandular epithelium, in which cystic accumulations of retained secretions are formed. In some instances, considerable portions of the neoplasm, or even the entire mass, may be cystic. (Stedman, 25th ed) MESH:D000236|MESH:D018297 C04.557.470.035.320|C04.557.470.590.485 C04.557.470.035|C04.557.470.590 Cystadenomas Cancer Cystadenoma, Mucinous MESH:D018291 A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential. MESH:D003537 C04.557.470.035.320.225|C04.557.470.590.485.225 C04.557.470.035.320|C04.557.470.590.485 Cystadenomas, Mucinous|Mucinous Cystadenoma|Mucinous Cystadenomas Cancer Cystadenoma, Papillary MESH:D018292 A benign neoplasm of the ovary. MESH:D003537 C04.557.470.035.320.230|C04.557.470.590.485.230 C04.557.470.035.320|C04.557.470.590.485 Cystadenomas, Papillary|Papillary Cystadenoma|Papillary Cystadenomas Cancer Cystadenoma, Serous MESH:D018293 A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue, with a malignant potential several times greater than that of mucinous cystadenoma (CYSTADENOMA, MUCINOUS). It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. (Dorland, 27th ed; from Hughes, Obstetric-Gynecologic Terminology, 1972) MESH:D003537 C04.557.470.035.320.240|C04.557.470.590.485.240 C04.557.470.035.320|C04.557.470.590.485 Cystadenomas, Serous|Serous Cystadenoma|Serous Cystadenomas Cancer Cystathionase Deficiency MESH:C562680 MESH:D000592 C16.320.565.100/C562680|C18.452.648.100/C562680 C16.320.565.100|C18.452.648.100 Genetic disease (inborn)|Metabolic disease Cysteine Peptiduria MESH:C565659 MESH:D000592 C16.320.565.100/C565659|C18.452.648.100/C565659 C16.320.565.100|C18.452.648.100 Genetic disease (inborn)|Metabolic disease Cystic Adenomatoid Malformation of Lung, Congenital MESH:D015615 An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal BRONCHIOLES with a consequent reduction of PULMONARY ALVEOLI. This anomaly is classified into three types by the cyst size. MESH:D008171|MESH:D015619 C08.381.150|C08.695.290|C16.131.740.290 C08.381|C08.695|C16.131.740 Congenital Cystic Adenomatoid Malformation|Congenital Cystic Adenomatoid Malformation of Lung|Congenital Cystic Adenomatoid Malformation, Type 1|Congenital Cystic Adenomatoid Malformation, Type 2|Congenital Cystic Adenomatoid Malformation, Type 3|Congenital Cystic Adenomatoid Malformation, Type I|Congenital Cystic Adenomatoid Malformation, Type II|Congenital Cystic Adenomatoid Malformation, Type III|Cystic Adenomatoid Malformation of Lung|Lung Malformation, Congenital Cystic Adenomatoid|Lung Malformation, Cystic Adenomatoid, Congenital Congenital abnormality|Respiratory tract disease Cystic dilatation of renal collecting tubes MESH:C531743 MESH:D007691 C12.050.351.968.419.403.500/C531743|C12.200.777.419.403.500/C531743|C12.950.419.403.500/C531743 C12.050.351.968.419.403.500|C12.200.777.419.403.500|C12.950.419.403.500 Urogenital disease (female)|Urogenital disease (male) Cystic Disease Of Lung MESH:C563237 MESH:D008171 C08.381/C563237 C08.381 Respiratory tract disease Cysticercosis MESH:D003551 DO:DOID:10079 Infection with CYSTICERCUS, the larval form of the various tapeworms of the genus Taenia (usually T. solium in man). In humans they penetrate the intestinal wall and invade subcutaneous tissue, brain, eye, muscle, heart, liver, lung, and peritoneum. Brain involvement results in NEUROCYSTICERCOSIS. MESH:D013622 C01.610.335.190.902.185 C01.610.335.190.902 Coenuri Infection|Coenuri Infections|Coenuroses|Coenurosis|Coenurus cerebralis Infection|Coenurus cerebralis Infections|Coenurus Infection|Coenurus Infections|Cysticercoses|Cysticercosis, Taenia solium|Cysticercus cellulosae Infection|Cysticercus cellulosae Infections|Infection, Coenuri|Infection, Coenurus|Infection, Coenurus cerebralis|Infection, Cysticercus cellulosae|Taenia solium Cysticercoses|Taenia solium Cysticercosis Parasitic disease Cystic Fibrosis MESH:D003550 DO:DOID:1485|OMIM:219700 An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. MESH:D007232|MESH:D008171|MESH:D010182|MESH:D030342 C06.689.202|C08.381.187|C16.320.190|C16.614.213 C06.689|C08.381|C16.320|C16.614 CF|Cystic Fibrosis of Pancreas|Cystic Fibrosis, Pancreatic|Cystic Fibrosis, Pulmonary|Fibrocystic Disease of Pancreas|Fibrosis, Cystic|Mucoviscidosis|Pancreas Fibrocystic Disease|Pancreas Fibrocystic Diseases|Pancreatic Cystic Fibrosis|Pulmonary Cystic Fibrosis Digestive system disease|Genetic disease (inborn)|Infant-newborn disease|Respiratory tract disease CYSTIC FIBROSIS, MODIFIER OF, 1 OMIM:603855 MESH:D000074270|MESH:D003550 C06.405.469.531.788/603855|C06.689.202/603855|C08.381.187/603855|C16.320.190/603855|C16.614.213/603855 C06.405.469.531.788|C06.689.202|C08.381.187|C16.320.190|C16.614.213 CFM1|MECONIUM ILEUS IN CYSTIC FIBROSIS, SUSCEPTIBILITY TO, INCLUDED Digestive system disease|Genetic disease (inborn)|Infant-newborn disease|Respiratory tract disease Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality MESH:C565658 MESH:D000749|MESH:D003550|MESH:D008607|MESH:D016481 C01.150.252.400.466/C565658|C06.689.202/C565658|C08.381.187/C565658|C10.597.606.360/C565658|C15.378.071.252.196/C565658|C16.320.190/C565658|C16.614.213/C565658|C23.888.592.604.646/C565658|F03.625.539/C565658 C01.150.252.400.466|C06.689.202|C08.381.187|C10.597.606.360|C15.378.071.252.196|C16.320.190|C16.614.213|C23.888.592.604.646|F03.625.539 Bacterial infection or mycosis|Blood disease|Digestive system disease|Genetic disease (inborn)|Infant-newborn disease|Mental disorder|Nervous system disease|Respiratory tract disease|Signs and symptoms Cystic Kidney Disease with Ventriculomegaly MESH:C565657 DO:DOID:0111625|OMIM:219730 MESH:D006849|MESH:D052177 C10.228.140.602/C565657|C12.050.351.968.419.403/C565657|C12.200.777.419.403/C565657|C12.950.419.403/C565657 C10.228.140.602|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE|VMCKD Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Cystic medial necrosis of aorta MESH:C536230 MESH:D003560|MESH:D017545 C04.182/C536230|C14.907.055.239.125/C536230|C14.907.109.139.125/C536230|C23.300.306/C536230 C04.182|C14.907.055.239.125|C14.907.109.139.125|C23.300.306 Erdheim Cystic medial necrosis of aorta Cancer|Cardiovascular disease|Pathology (anatomical condition) Cystinosis MESH:D003554 DO:DOID:1064|OMIM:219800 A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME. MESH:D016464 C16.320.565.595.377|C18.452.648.595.377 C16.320.565.595|C18.452.648.595 CTNS|Cystine Diatheses|Cystine Diathesis|Cystine Disease|Cystine Diseases|Cystine Storage Disease|Cystine Storage Diseases|Cystinoses|Cystinoses, Nephropathic|Cystinosin, Defect of|CYSTINOSIN, DEFECT OF CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED|CYSTINOSIS, ATYPICAL NEPHROPATHIC, INCLUDED|Cystinosis, Nephropathic|Defect of Cystinosin|Diatheses, Cystine|Diathesis, Cystine|Lysosomal Cystine Transport Protein, Defect Of|Nephropathic Cystinoses|Nephropathic Cystinosis|Storage Disease, Cystine|Storage Diseases, Cystine Genetic disease (inborn)|Metabolic disease Cystinosis, Infantile Nephropathic MESH:C565655 MESH:D003554 C16.320.565.595.377/C565655|C18.452.648.595.377/C565655 C16.320.565.595.377|C18.452.648.595.377 Genetic disease (inborn)|Metabolic disease Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type MESH:C562683 OMIM:219900 MESH:D003554|MESH:D009404 C12.050.351.968.419.630.643/C562683|C12.200.777.419.630.643/C562683|C12.950.419.630.643/C562683|C16.320.565.595.377/C562683|C18.452.648.595.377/C562683 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643|C16.320.565.595.377|C18.452.648.595.377 Cystinosis, Intermediate Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Cystinosis, ocular nonnephropathic MESH:C535765 OMIM:219750 MESH:D003554 C16.320.565.595.377/C535765|C18.452.648.595.377/C535765 C16.320.565.595.377|C18.452.648.595.377 Cystinosis, adult, nonnephropathic|Cystinosis, Adult Nonnephropathic|Cystinosis, benign, nonnephropathic|Cystinosis, Benign Nonnephropathic|CYSTINOSIS, OCULAR NONNEPHROPATHIC|Ocular nonnephropathic cystinosis Genetic disease (inborn)|Metabolic disease Cystinuria MESH:D003555 DO:DOID:9266|OMIM:220100 An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1. MESH:D000608 C12.050.351.968.419.815.885.250|C12.200.777.419.815.885.250|C12.950.419.815.885.250|C16.320.831.885.250 C12.050.351.968.419.815.885|C12.200.777.419.815.885|C12.950.419.815.885|C16.320.831.885 CSNU|CSNU1, FORMERLY|CSNU3, FORMERLY|Cystinurias|CYSTINURIA, TYPE A/B, INCLUDED|CYSTINURIA, TYPE B, INCLUDED|CYSTINURIA, TYPE I, FORMERLY|CYSTINURIA, TYPE II, FORMERLY|CYSTINURIA, TYPE III, FORMERLY|CYSTINURIA, TYPE NON-I, FORMERLY CYSTINURIA, TYPE A, INCLUDED Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Cystinuria type 1 MESH:C531664 MESH:D003555 C12.050.351.968.419.815.885.250/C531664|C12.200.777.419.815.885.250/C531664|C12.950.419.815.885.250/C531664|C16.320.831.885.250/C531664 C12.050.351.968.419.815.885.250|C12.200.777.419.815.885.250|C12.950.419.815.885.250|C16.320.831.885.250 Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Cystinuria, Type A MESH:C565652 MESH:D003555 C12.050.351.968.419.815.885.250/C565652|C12.200.777.419.815.885.250/C565652|C12.950.419.815.885.250/C565652|C16.320.831.885.250/C565652 C12.050.351.968.419.815.885.250|C12.200.777.419.815.885.250|C12.950.419.815.885.250|C16.320.831.885.250 Cystinuria, Type A-B|Cystinuria, Type B Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Cystitis MESH:D003556 DO:DOID:1679 Inflammation of the URINARY BLADDER, either from bacterial or non-bacterial causes. Cystitis is usually associated with painful urination (dysuria), increased frequency, urgency, and suprapubic pain. MESH:D001745 C12.050.351.968.829.495|C12.200.777.829.495|C12.950.829.495 C12.050.351.968.829|C12.200.777.829|C12.950.829 Cystitides Urogenital disease (female)|Urogenital disease (male) Cystitis, Interstitial MESH:D018856 DO:DOID:13949|DO:DOID:1678 A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency. MESH:D003556 C12.050.351.968.829.495.500|C12.200.777.829.495.500|C12.950.829.495.500 C12.050.351.968.829.495|C12.200.777.829.495|C12.950.829.495 Bladder Pain Syndrome|Bladder Pain Syndromes|Chronic Interstitial Cystitides|Chronic Interstitial Cystitis|Cystitides, Chronic Interstitial|Cystitides, Interstitial|Cystitis, Chronic Interstitial|Interstitial Cystitides|Interstitial Cystitides, Chronic|Interstitial Cystitis|Interstitial Cystitis, Chronic|Painful Bladder Syndrome|Pain Syndrome, Bladder Urogenital disease (female)|Urogenital disease (male) Cystocele MESH:D052858 A HERNIA-like condition in which the weakened pelvic muscles cause the URINARY BLADDER to drop from its normal position. Fallen urinary bladder is more common in females with the bladder dropping into the VAGINA and less common in males with the bladder dropping into the SCROTUM. MESH:D001745|MESH:D056887 C12.050.351.968.829.508|C12.200.777.829.707|C12.950.829.508|C23.300.842.624.249 C12.050.351.968.829|C12.200.777.829|C12.950.829|C23.300.842.624 Fallen Urinary Bladder|Prolapse, Urinary Bladder|Urinary Bladder Prolapse Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Cysts MESH:D003560 Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues. MESH:D009369|MESH:D020763 C04.182|C23.300.306 C04|C23.300 Cyst Cancer|Pathology (anatomical condition) Cytochrome-c Oxidase Deficiency MESH:D030401 DO:DOID:3762|OMIM:220110 A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001) MESH:D008661|MESH:D028361 C16.320.565.240|C18.452.660.195 C16.320.565|C18.452.660 Complex IV Deficiencies|Complex IV Deficiency|Cox Deficiencies|Cox Deficiency|Cytochrome-c Oxidase Deficiencies|Cytochrome C Oxidase Deficiency|Cytochrome Oxidase Deficiencies|Cytochrome Oxidase Deficiency|Deficiencies, Complex IV|Deficiencies, Cox|Deficiencies, Cytochrome-c Oxidase|Deficiencies, Cytochrome Oxidase|Deficiency, Complex IV|Deficiency, Cox|Deficiency, Cytochrome c Oxidase|Deficiency, Cytochrome-c Oxidase|Deficiency, Cytochrome Oxidase|MC4DN1|Mitochondrial Complex IV Deficiency|MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1|Oxidase Deficiencies, Cytochrome|Oxidase Deficiencies, Cytochrome-c|Oxidase Deficiency, Cytochrome|Oxidase Deficiency, Cytochrome-c Genetic disease (inborn)|Metabolic disease Cytokine Release Syndrome MESH:D000080424 A severe immune reaction characterized by excessive release of CYTOKINES. Symptoms include DYSPNEA; FEVER; HEADACHE; HYPOTENSION; NAUSEA; RASH; TACHYCARDIA; HYPOXIA; HYPERFERRITINEMIA, and MULTIPLE ORGAN FAILURE. It is associated with viral infections, SEPSIS; AUTOIMMUNE DISEASES and a variety of factors used in IMMUNOTHERAPY. MESH:D018746 C23.550.470.790.250|C23.550.835.900.356 C23.550.470.790|C23.550.835.900 Cytokine Release Syndromes|Cytokine Storm|Cytokine Storms|Cytokine Storm Syndrome|Hypercytokinemia|Hypercytokinemias Pathology (process) Cytomegalic inclusion body disease MESH:C538505 MESH:D003586 C01.925.256.466.245/C538505 C01.925.256.466.245 Viral disease Cytomegalovirus Infections MESH:D003586 Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults. MESH:D006566 C01.925.256.466.245 C01.925.256.466 CMV Inclusion|CMV Inclusions|CMV Infection, Congenital|CMV Infection, Perinatal|Colitis, Cytomegalovirus|Congenital CMV Infection|Congenital CMV Infections|Congenital Cytomegalovirus Infection|Congenital Cytomegalovirus Infections|Cytomegalic Inclusion Disease|Cytomegalic Inclusion Diseases|Cytomegalovirus Colitides|Cytomegalovirus Colitis|Cytomegalovirus Inclusion|Cytomegalovirus Inclusion Disease|Cytomegalovirus Inclusion Diseases|Cytomegalovirus Inclusions|Cytomegalovirus Infection|Cytomegalovirus Infection, Congenital|Cytomegalovirus Infection, Perinatal|Cytomegalovirus Infection, Severe|Cytomegalovirus Infections, Severe|Disease, Cytomegalic Inclusion|Disease, Cytomegalovirus Inclusion|Diseases, Cytomegalovirus Inclusion|Inclusion, CMV|Inclusion, Cytomegalovirus|Inclusion Disease|Inclusion Disease, Cytomegalic|Inclusion Disease, Cytomegalovirus|Inclusion Diseases|Inclusion Diseases, Cytomegalovirus|Infection, Congenital CMV|Infection, Congenital Cytomegalovirus|Infection, Cytomegalovirus|Infection, Perinatal CMV|Infection, Perinatal Cytomegalovirus|Infections, Cytomegalovirus|Infection, Severe Cytomegalovirus|Perinatal CMV Infection|Perinatal CMV Infections|Perinatal Cytomegalovirus Infection|Perinatal Cytomegalovirus Infections|Renal Tubular Cytomegalovirus Inclusion|Renal Tubular Cytomegalovirus Inclusions|Salivary Gland Virus Disease|Severe Cytomegalovirus Infection|Severe Cytomegalovirus Infections Viral disease Cytomegalovirus Retinitis MESH:D017726 DO:DOID:0080160 Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness. MESH:D003586|MESH:D012173|MESH:D015828 C01.375.725.270|C01.925.256.466.245.150|C01.925.325.270|C11.294.800.270|C11.768.773.360 C01.375.725|C01.925.256.466.245|C01.925.325|C11.294.800|C11.768.773 Cytomegaloviral Retinitis|Retinitis, Cytomegaloviral|Retinitis, Cytomegalovirus Eye disease|Viral disease Cytophagaceae Infections MESH:D045827 Infections with bacteria of the family CYTOPHAGACEAE. MESH:D016905 C01.150.252.400.245 C01.150.252.400 Cytophagaceae Infection|Flexibacteraceae Infection|Flexibacteraceae Infections|Infection, Cytophagaceae|Infection, Flexibacteraceae|Infections, Cytophagaceae|Infections, Flexibacteraceae Bacterial infection or mycosis Cytosolic acetoacetyl-CoA thiolase deficiency MESH:C536005 OMIM:614055 MESH:D008052 C16.320.565.398/C536005|C18.452.584.563/C536005|C18.452.648.398/C536005 C16.320.565.398|C18.452.584.563|C18.452.648.398 ACAT2D|Acat2 Deficiency|Acetocoenzyme A acetyltransferase 2 deficiency|Acetyl-coa acetyltransferase 2 deficiency|ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY Genetic disease (inborn)|Metabolic disease Czech dysplasia, metatarsal type MESH:C535766 OMIM:609162 MESH:D010009 C05.116.099.708/C535766|C16.320.728/C535766 C05.116.099.708|C16.320.728 Czech Dysplasia|CZECH DYSPLASIA, METATARSAL TYPE|Progressive Pseudorheumatoid Dysplasia with Hypoplastic Toes|Pseudorheumatoid dysplasia, progressive, with hypoplastic toes|Spondyloarthropathy with Short Third and Fourth Toes|SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS Genetic disease (inborn)|Musculoskeletal disease Dacryocystitis MESH:D003607 DO:DOID:950|DO:DOID:9938 Inflammation of the lacrimal sac. (Dorland, 27th ed) MESH:D007766 C11.496.221 C11.496 Dacryoadenitides|Dacryoadenitis|Dacryocystitides Eye disease Daentl Towsend Siegel syndrome MESH:C535768 MESH:D006849|MESH:D009394|MESH:D015422 C10.228.140.602/C535768|C11.790/C535768|C12.050.351.875.742/C535768|C12.050.351.968.419.570.620/C535768|C12.200.706.742/C535768|C12.200.777.419.570.620/C535768|C12.800.742/C535768|C12.950.419.570.620/C535768|C16.131.939.742/C535768|C17.300.200.517/C535768 C10.228.140.602|C11.790|C12.050.351.875.742|C12.050.351.968.419.570.620|C12.200.706.742|C12.200.777.419.570.620|C12.800.742|C12.950.419.570.620|C16.131.939.742|C17.300.200.517 Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome|Hydrocephalus blue sclera nephropathy Congenital abnormality|Connective tissue disease|Eye disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Dahlberg Borer Newcomer syndrome MESH:C535769 MESH:D007011|MESH:D008209 C15.604.496/C535769|C19.642.482/C535769 C15.604.496|C19.642.482 Hypoparathyroidism Lymphedema syndrome|Hypoparathyroidism-Lymphedema Syndrome|Lymphedema hypoparathyroidism syndrome|Lymphedema-Hypoparathyroidism Syndrome Endocrine system disease|Lymphatic disease Daish Hardman Lamont syndrome MESH:C535770 MESH:D006130|MESH:D006849|MESH:D007593|MESH:D007738|MESH:D012600 C05.116.900.800.500/C535770|C05.116.900.800.875/C535770|C05.550.521/C535770|C10.228.140.602/C535770|C23.550.393/C535770 C05.116.900.800.500|C05.116.900.800.875|C05.550.521|C10.228.140.602|C23.550.393 Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis Musculoskeletal disease|Nervous system disease|Pathology (process) Dandruff MESH:D063807 DO:DOID:8941 Excessive shedding of dry scaly material from the scalp in humans. MESH:D003872|MESH:D012536 C17.800.174.146|C17.800.738.353 C17.800.174|C17.800.738 Scurf Skin disease Dandy Walker cyst MESH:C538507 MESH:D003616 C10.228.140.252.300/C538507|C10.228.140.602.500/C538507|C10.500.205/C538507|C16.131.666.205/C538507 C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C16.131.666.205 Congenital abnormality|Nervous system disease Dandy Walker malformation postaxial polydactyly MESH:C535771 MESH:D003616|MESH:D017689 C05.660.585.600/C535771|C10.228.140.252.300/C535771|C10.228.140.602.500/C535771|C10.500.205/C535771|C16.131.621.585.600/C535771|C16.131.666.205/C535771 C05.660.585.600|C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C16.131.621.585.600|C16.131.666.205 Dandy-Walker malformation with postaxial polydactyly|Dwm With Postaxial Polydactyly Congenital abnormality|Musculoskeletal disease|Nervous system disease Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy MESH:C535985 MESH:D003616|MESH:D009216 C10.228.140.252.300/C535985|C10.228.140.602.500/C535985|C10.500.205/C535985|C11.744.636/C535985|C16.131.666.205/C535985 C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C11.744.636|C16.131.666.205 Facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation Congenital abnormality|Eye disease|Nervous system disease Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant MESH:C567185 MESH:D003616|MESH:D004677 C10.228.140.252.300/C567185|C10.228.140.602.500/C567185|C10.500.205/C567185|C10.500.680.488/C567185|C16.131.666.205/C567185|C16.131.666.680.488/C567185|C23.300.707.186/C567185 C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C10.500.680.488|C16.131.666.205|C16.131.666.680.488|C23.300.707.186 ADDWOC Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Dandy-Walker Syndrome MESH:D003616 DO:DOID:2785|OMIM:220200 A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5) MESH:D002526|MESH:D006849|MESH:D009421 C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C16.131.666.205 C10.228.140.252|C10.228.140.602|C10.500|C16.131.666 Cyst, Dandy-Walker|Cysts, Dandy-Walker|Dandy Walker Complex|Dandy-Walker Complex|Dandy-Walker Complices|Dandy-Walker Cyst|Dandy-Walker Cysts|Dandy-Walker Deformities|Dandy Walker Deformity|Dandy-Walker Deformity|Dandy Walker Malformation|Dandy-Walker Malformation|DANDY-WALKER MALFORMATION, INCLUDED|Dandy Walker Syndrome|Dandy Walker Syndrome, Familial|Dandy-Walker Syndrome, Familial|DWM, INCLUDED|DWS|Familial Dandy-Walker Syndrome|Hydrocephalus, Internal, Dandy-Walker Type|Hydrocephalus, Noncommunicating, Dandy-Walker Type|Luschka Magendie Foramina Atresia|Luschka-Magendie Foramina Atresia|Malformation, Dandy-Walker Congenital abnormality|Nervous system disease Dandy Walker variant MESH:C535772 MESH:D003616 C10.228.140.252.300/C535772|C10.228.140.602.500/C535772|C10.500.205/C535772|C16.131.666.205/C535772 C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C16.131.666.205 Congenital abnormality|Nervous system disease Daneman Davy Mancer syndrome MESH:C535986 MESH:D005532|MESH:D006044|MESH:D006228|MESH:D007690 C05.330.495/C535986|C05.390.408/C535986|C05.660.585.512.380/C535986|C05.660.585.988.425/C535986|C12.050.351.968.419.403.875/C535986|C12.200.777.419.403.875/C535986|C12.950.419.403.875/C535986|C16.131.077.717/C535986|C16.131.621.585.512.500/C535986|C16.131.621.585.988.500/C535986|C16.320.184.625/C535986|C19.874.283.501/C535986 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.717|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.320.184.625|C19.874.283.501 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies|Multinodular goiter, cystic renal disease, and digital anomalies|Multinodular Goiter-Cystic Renal Disease-Digital Anomalies Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Darier Disease MESH:D007644 DO:DOID:2734|OMIM:101900|OMIM:124200 An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES. MESH:D007642|MESH:D012873 C16.320.850.190|C17.800.428.275|C17.800.827.190 C16.320.850|C17.800.428|C17.800.827 Acantholytic Dyskeratotic Epidermal Nevi|Acantholytic Dyskeratotic Epidermal Nevus|Acrokeratosis Verruciformis|Acrokeratosis Verruciformis of Hopf|AKV|DAR|DARIER DISEASE;DD DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED|DARIER DISEASE, SEGMENTAL, INCLUDED|Darier's Disease|Dariers Disease|Darier White Disease|Darier-White Disease|Darier-White Diseases|Disease, Darier|Disease, Darier's|Disease, Darier-White|Disease, Hopf|Diseases, Darier-White|Diseases, Hopf|Hopf Acrokeratosis Verruciformis|Hopf Disease|Hopf Diseases|Keratosis Follicularis|Verruciformis, Acrokeratosis Genetic disease (inborn)|Skin disease Darier Disease, Acral Hemorrhagic Type MESH:C565125 MESH:D007644 C16.320.850.190/C565125|C17.800.428.275/C565125|C17.800.827.190/C565125 C16.320.850.190|C17.800.428.275|C17.800.827.190 Genetic disease (inborn)|Skin disease Darier Disease, Segmental MESH:C565126 MESH:D007644 C16.320.850.190/C565126|C17.800.428.275/C565126|C17.800.827.190/C565126 C16.320.850.190|C17.800.428.275|C17.800.827.190 Genetic disease (inborn)|Skin disease Davenport Donlan syndrome MESH:C535988 MESH:D003286|MESH:D003638|MESH:D007153|MESH:D010212|MESH:D012878 C04.557.470.700.600/C535988|C04.588.805/C535988|C05.550.323/C535988|C05.651.197/C535988|C09.218.458.341.186/C535988|C10.597.751.418.341.186/C535988|C17.800.882/C535988|C20.673/C535988|C23.888.592.763.393.341.186/C535988 C04.557.470.700.600|C04.588.805|C05.550.323|C05.651.197|C09.218.458.341.186|C10.597.751.418.341.186|C17.800.882|C20.673|C23.888.592.763.393.341.186 Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis Cancer|Ear-nose-throat disease|Immune system disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Davis Lafer syndrome MESH:C535989 MESH:D008607|MESH:D019066 C10.597.606.360/C535989|C23.550.291.812/C535989|C23.888.592.604.646/C535989|F03.625.539/C535989 C10.597.606.360|C23.550.291.812|C23.888.592.604.646|F03.625.539 Lafer Davis syndrome|Mental retardation unusual facies Davis Lafer type Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms D-BIFUNCTIONAL PROTEIN DEFICIENCY OMIM:261515 DO:DOID:0090031 MESH:C537286|MESH:C537805|MESH:D052439 C09.218.458.341.887/C537286/261515|C10.597.751.418.341.887/C537286/261515|C12.050.351.875.253.064.249/C537286/261515|C12.050.351.875.253.096/C537805/261515|C12.050.351.875.253.309.193/C537286/261515|C12.200.706.316.064.249/C537286/261515|C12.200.706.316.096/C537805/261515|C12.200.706.316.309.193/C537286/261515|C12.800.316.064.249/C537286/261515|C12.800.316.096/C537805/261515|C12.800.316.309.193/C537286/261515|C16.131.939.316.064.249/C537286/261515|C16.131.939.316.096/C537805/261515|C16.131.939.316.309.193/C537286/261515|C16.320.565.925/C537805/261515|C17.800.090.875/C537805/261515|C18.452.584/261515|C18.452.648.925/C537805/261515|C19.391.119.064.249/C537286/261515|C19.391.119.096/C537805/261515|C19.391.119.309.193/C537286/261515|C23.888.592.763.393.341.887/C537286/261515 C09.218.458.341.887/C537286|C10.597.751.418.341.887/C537286|C12.050.351.875.253.064.249/C537286|C12.050.351.875.253.096/C537805|C12.050.351.875.253.309.193/C537286|C12.200.706.316.064.249/C537286|C12.200.706.316.096/C537805|C12.200.706.316.309.193/C537286|C12.800.316.064.249/C537286|C12.800.316.096/C537805|C12.800.316.309.193/C537286|C16.131.939.316.064.249/C537286|C16.131.939.316.096/C537805|C16.131.939.316.309.193/C537286|C16.320.565.925/C537805|C17.800.090.875/C537805|C18.452.584|C18.452.648.925/C537805|C19.391.119.064.249/C537286|C19.391.119.096/C537805|C19.391.119.309.193/C537286|C23.888.592.763.393.341.887/C537286 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY|DBP DEFICIENCY|PBFE DEFICIENCY|PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease|Urogenital disease (female)|Urogenital disease (male) Deaf-Blind Disorders MESH:D054062 The absence of both hearing and vision. MESH:D000015|MESH:D001766|MESH:D003638 C09.218.458.341.186.500|C10.597.751.418.341.186.500|C10.597.751.941.162.625|C11.966.075.375|C16.131.077.299|C23.888.592.763.393.341.186.500|C23.888.592.763.941.162.625 C09.218.458.341.186|C10.597.751.418.341.186|C10.597.751.941.162|C11.966.075|C16.131.077|C23.888.592.763.393.341.186|C23.888.592.763.941.162 Blind-Deaf Disorder|Blind Deaf Disorders|Blind-Deaf Disorders|Blindness Deafness|Blindness-Deafness|Deaf-Blind Disorder|Deaf-Blind Disorder, Prelingual|Deaf Blind Disorders|Deaf-Blind Disorders, Prelingual|Deaf-Blindness Disorder|Deaf Blindness Disorders|Deaf-Blindness Disorders|Deaf-Blind Syndrome|Deaf Blind Syndromes|Deaf-Blind Syndromes|Deaf-Mutism-Blind Disorder|Deaf Mutism Blind Disorders|Deaf-Mutism-Blind Disorders|Deafness Blindness|Deafness-Blindness|Deafness-Blindnesses, Prelingual|Deafness-Blindness, Prelingual|Disorder, Blind-Deaf|Disorder, Deaf-Blind|Disorder, Deaf-Blindness|Disorder, Deaf-Mutism-Blind|Disorder, Prelingual Deaf-Blind|Disorders, Blind-Deaf|Disorders, Deaf-Blind|Disorders, Deaf-Blindness|Disorders, Deaf-Mutism-Blind|Disorders, Prelingual Deaf-Blind|Hearing and Vision Loss|Prelingual Deaf-Blind Disorder|Prelingual Deaf Blind Disorders|Prelingual Deaf-Blind Disorders|Prelingual Deafness Blindness|Prelingual Deafness-Blindness|Prelingual Deafness-Blindnesses|Syndrome, Deaf-Blind|Syndromes, Deaf-Blind|Vision and Hearing Loss Congenital abnormality|Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms Deafness MESH:D003638 A general term for the complete loss of the ability to hear from both ears. MESH:D034381 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Acquired Deafness|Complete Hearing Loss|Deaf Mutism|Deaf-Mutism|Deafness, Acquired|Deafness Permanent|Deafness, Prelingual|Extreme Hearing Loss|Hearing Loss, Complete|Hearing Loss, Extreme|Hearing Loss Permanent|Permanent, Deafness|Permanent, Hearing Loss|Permanents, Deafness|Prelingual Deafness Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Aminoglycoside-Induced MESH:C564013 OMIM:580000 MESH:D006319 C09.218.458.341.887/C564013|C10.597.751.418.341.887/C564013|C23.888.592.763.393.341.887/C564013 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Deafness, Streptomycin-Induced|Streptomycin Ototoxicity Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS AND MYOPIA OMIM:221200 DO:DOID:0111628 MESH:D003638|MESH:D009216 C09.218.458.341.186/221200|C10.597.751.418.341.186/221200|C11.744.636/221200|C23.888.592.763.393.341.186/221200 C09.218.458.341.186|C10.597.751.418.341.186|C11.744.636|C23.888.592.763.393.341.186 DFNMYP Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 1 MESH:C565121 OMIM:124900 MESH:D006319 C09.218.458.341.887/C565121|C10.597.751.418.341.887/C565121|C23.888.592.763.393.341.887/C565121 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA|Deafness, Progressive Low Tone|DFNA1|Hereditary Low Frequency Hearing Loss|Konigsmark Syndrome Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 10 MESH:C563354 OMIM:601316 MESH:D006319 C09.218.458.341.887/C563354|C10.597.751.418.341.887/C563354|C23.888.592.763.393.341.887/C563354 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA10 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 11 MESH:C563353 OMIM:601317 MESH:D006319 C09.218.458.341.887/C563353|C10.597.751.418.341.887/C563353|C23.888.592.763.393.341.887/C563353 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA11 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 12 MESH:C563295 OMIM:601543 MESH:D006319 C09.218.458.341.887/C563295|C10.597.751.418.341.887/C563295|C23.888.592.763.393.341.887/C563295 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Deafness, Autosomal Dominant 8|DFNA12|DFNA8 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 13 MESH:C566612 OMIM:601868 MESH:D006319 C09.218.458.341.887/C566612|C10.597.751.418.341.887/C566612|C23.888.592.763.393.341.887/C566612 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA13 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 15 MESH:C566545 OMIM:602459 MESH:D006319 C09.218.458.341.887/C566545|C10.597.751.418.341.887/C566545|C23.888.592.763.393.341.887/C566545 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA15 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 16 MESH:C565832 OMIM:603964 MESH:D006319 C09.218.458.341.887/C565832|C10.597.751.418.341.887/C565832|C23.888.592.763.393.341.887/C565832 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA16 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 18 MESH:C565267 OMIM:606012 MESH:D006319 C09.218.458.341.887/C565267|C10.597.751.418.341.887/C565267|C23.888.592.763.393.341.887/C565267 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA18 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 20 MESH:C565754 OMIM:604717 MESH:D006319 C09.218.458.341.887/C565754|C10.597.751.418.341.887/C565754|C23.888.592.763.393.341.887/C565754 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA20|DFNA26 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 21 MESH:C564634 OMIM:607017 MESH:D006319 C09.218.458.341.887/C564634|C10.597.751.418.341.887/C564634|C23.888.592.763.393.341.887/C564634 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA21 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, OMIM:606346 DO:DOID:0110552 MESH:D003638|MESH:D024741 C09.218.458.341.186/606346|C10.597.751.418.341.186/606346|C14.280.238.100.500/606346|C14.280.484.048.750.070.160.500/606346|C16.320.160/606346|C23.888.592.763.393.341.186/606346 C09.218.458.341.186|C10.597.751.418.341.186|C14.280.238.100.500|C14.280.484.048.750.070.160.500|C16.320.160|C23.888.592.763.393.341.186 INCLUDED Cardiovascular disease|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 23 MESH:C565357 OMIM:605192 MESH:D006319 C09.218.458.341.887/C565357|C10.597.751.418.341.887/C565357|C23.888.592.763.393.341.887/C565357 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA23 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 24 MESH:C565239 OMIM:606282 MESH:D006319 C09.218.458.341.887/C565239|C10.597.751.418.341.887/C565239|C23.888.592.763.393.341.887/C565239 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA24 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 25 MESH:C565319 OMIM:605583 MESH:D006319 C09.218.458.341.887/C565319|C10.597.751.418.341.887/C565319|C23.888.592.763.393.341.887/C565319 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA25 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 27 OMIM:612431 DO:DOID:0110556 MESH:D003638 C09.218.458.341.186/612431|C10.597.751.418.341.186/612431|C23.888.592.763.393.341.186/612431 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA27 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 28 MESH:C563890 OMIM:608641 MESH:D006319 C09.218.458.341.887/C563890|C10.597.751.418.341.887/C563890|C23.888.592.763.393.341.887/C563890 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA28 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 2A MESH:C567441 OMIM:600101 MESH:D006319 C09.218.458.341.887/C567441|C10.597.751.418.341.887/C567441|C23.888.592.763.393.341.887/C567441 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA2A Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 2B MESH:C567214 OMIM:612644 MESH:D006319 C09.218.458.341.887/C567214|C10.597.751.418.341.887/C567214|C23.888.592.763.393.341.887/C567214 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA2B Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 30 MESH:C564706 OMIM:606451 MESH:D006319 C09.218.458.341.887/C564706|C10.597.751.418.341.887/C564706|C23.888.592.763.393.341.887/C564706 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA30 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 31 MESH:C563888 OMIM:608645 MESH:D006319 C09.218.458.341.887/C563888|C10.597.751.418.341.887/C563888|C23.888.592.763.393.341.887/C563888 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA31 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 33 OMIM:614211 DO:DOID:0110562 MESH:D003638 C09.218.458.341.186/614211|C10.597.751.418.341.186/614211|C23.888.592.763.393.341.186/614211 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA33 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 36 MESH:C564675 OMIM:606705 MESH:D006319 C09.218.458.341.887/C564675|C10.597.751.418.341.887/C564675|C23.888.592.763.393.341.887/C564675 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA36 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 MESH:C565316 OMIM:605594 MESH:D003811|MESH:D006319 C07.650.800.270/C565316|C07.793.700.270/C565316|C09.218.458.341.887/C565316|C10.597.751.418.341.887/C565316|C16.131.850.800.270/C565316|C23.888.592.763.393.341.887/C565316 C07.650.800.270|C07.793.700.270|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.850.800.270|C23.888.592.763.393.341.887 DFNA39-Dentinogenesis Imperfecta 1 Syndrome|DFNA39/DENTINOGENESIS IMPERFECTA 1 SYNDROME|DFNA39/DGI1 SYNDROME|DGI1/DFNA39 SYNDROME Congenital abnormality|Ear-nose-throat disease|Mouth disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 3A MESH:C567277 OMIM:601544 MESH:D006319 C09.218.458.341.887/C567277|C10.597.751.418.341.887/C567277|C23.888.592.763.393.341.887/C567277 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA3A Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 3B MESH:C567215 OMIM:612643 MESH:D006319 C09.218.458.341.887/C567215|C10.597.751.418.341.887/C567215|C23.888.592.763.393.341.887/C567215 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA3B Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 4 MESH:C563460 MESH:D006319 C09.218.458.341.887/C563460|C10.597.751.418.341.887/C563460|C23.888.592.763.393.341.887/C563460 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 40 OMIM:616357 DO:DOID:0110566 MESH:D003638 C09.218.458.341.186/616357|C10.597.751.418.341.186/616357|C23.888.592.763.393.341.186/616357 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA40 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 41 MESH:C564272 OMIM:608224 MESH:D006319 C09.218.458.341.887/C564272|C10.597.751.418.341.887/C564272|C23.888.592.763.393.341.887/C564272 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA41 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 43 MESH:C564246 OMIM:608394 MESH:D006319 C09.218.458.341.887/C564246|C10.597.751.418.341.887/C564246|C23.888.592.763.393.341.887/C564246 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA43 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 44 MESH:C564399 OMIM:607453 MESH:D006319 C09.218.458.341.887/C564399|C10.597.751.418.341.887/C564399|C23.888.592.763.393.341.887/C564399 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA44 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 47 MESH:C563885 OMIM:608652 MESH:D006319 C09.218.458.341.887/C563885|C10.597.751.418.341.887/C563885|C23.888.592.763.393.341.887/C563885 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA47 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 48 MESH:C564322 OMIM:607841 MESH:D006319 C09.218.458.341.887/C564322|C10.597.751.418.341.887/C564322|C23.888.592.763.393.341.887/C564322 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA48 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 49 MESH:C564250 OMIM:608372 MESH:D006319 C09.218.458.341.887/C564250|C10.597.751.418.341.887/C564250|C23.888.592.763.393.341.887/C564250 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA49 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 4A OMIM:600652 DO:DOID:0110573 MESH:D003638 C09.218.458.341.186/600652|C10.597.751.418.341.186/600652|C23.888.592.763.393.341.186/600652 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DEAFNESS, AUTOSOMAL DOMINANT 4|DFNA4|DFNA4A Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 4B OMIM:614614 DO:DOID:0110574 MESH:D003638 C09.218.458.341.186/614614|C10.597.751.418.341.186/614614|C23.888.592.763.393.341.186/614614 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA4B Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 5 MESH:C563410 OMIM:600994 MESH:D006319 C09.218.458.341.887/C563410|C10.597.751.418.341.887/C563410|C23.888.592.763.393.341.887/C563410 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA5 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 50 OMIM:613074 DO:DOID:0110576 MESH:D003638 C09.218.458.341.186/613074|C10.597.751.418.341.186/613074|C23.888.592.763.393.341.186/613074 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA50 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 51 OMIM:613558 DO:DOID:0110577 MESH:D003638 C09.218.458.341.186/613558|C10.597.751.418.341.186/613558|C23.888.592.763.393.341.186/613558 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 CHROMOSOME 9q21.11 DUPLICATION SYNDROME|DFNA51 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 52 MESH:C564348 OMIM:607683 MESH:D006319 C09.218.458.341.887/C564348|C10.597.751.418.341.887/C564348|C23.888.592.763.393.341.887/C564348 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DEAFNESS, AUTOSOMAL DOMINANT 42|DFNA42|DFNA52 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 53 MESH:C566495 OMIM:609965 MESH:D006319 C09.218.458.341.887/C566495|C10.597.751.418.341.887/C566495|C23.888.592.763.393.341.887/C566495 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA53 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 56 OMIM:615629 DO:DOID:0110581 MESH:D003638 C09.218.458.341.186/615629|C10.597.751.418.341.186/615629|C23.888.592.763.393.341.186/615629 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA56 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 59 MESH:C567216 OMIM:612642 MESH:D006319 C09.218.458.341.887/C567216|C10.597.751.418.341.887/C567216|C23.888.592.763.393.341.887/C567216 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA59 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 6 MESH:C563421 OMIM:600965 MESH:D006319 C09.218.458.341.887/C563421|C10.597.751.418.341.887/C563421|C23.888.592.763.393.341.887/C563421 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Deafness, Autosomal Dominant 14|Deafness, Autosomal Dominant 38|DFNA14|DFNA38|DFNA6 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 64 OMIM:614152 DO:DOID:0110585 MESH:D003638 C09.218.458.341.186/614152|C10.597.751.418.341.186/614152|C23.888.592.763.393.341.186/614152 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA64 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 65 OMIM:616044 DO:DOID:0110586 MESH:D003638 C09.218.458.341.186/616044|C10.597.751.418.341.186/616044|C23.888.592.763.393.341.186/616044 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA65 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 66 OMIM:616969 DO:DOID:0110587 MESH:D003638 C09.218.458.341.186/616969|C10.597.751.418.341.186/616969|C23.888.592.763.393.341.186/616969 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA66 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 67 OMIM:616340 DO:DOID:0110588 MESH:D003638 C09.218.458.341.186/616340|C10.597.751.418.341.186/616340|C23.888.592.763.393.341.186/616340 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA67 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 68 OMIM:616707 DO:DOID:0110589 MESH:D003638 C09.218.458.341.186/616707|C10.597.751.418.341.186/616707|C23.888.592.763.393.341.186/616707 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA68 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 69 OMIM:616697 DO:DOID:0110590 MESH:D003638 C09.218.458.341.186/616697|C10.597.751.418.341.186/616697|C23.888.592.763.393.341.186/616697 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DCUA|DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC|DFNA69 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 7 MESH:C563321 OMIM:601412 MESH:D006319 C09.218.458.341.887/C563321|C10.597.751.418.341.887/C563321|C23.888.592.763.393.341.887/C563321 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA7 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL DOMINANT 70 OMIM:616968 DO:DOID:0110592 MESH:D003638 C09.218.458.341.186/616968|C10.597.751.418.341.186/616968|C23.888.592.763.393.341.186/616968 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNA70 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant 9 MESH:C563335 OMIM:601369 MESH:D006319 C09.218.458.341.887/C563335|C10.597.751.418.341.887/C563335|C23.888.592.763.393.341.887/C563335 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNA9 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Dominant, Due To Mutation In Myo1a MESH:C567266 MESH:D034381 C09.218.458.341/C567266|C10.597.751.418.341/C567266|C23.888.592.763.393.341/C567266 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, autosomal dominant nonsyndromic sensorineural 17 MESH:C538050 OMIM:603622 MESH:D006319 C09.218.458.341.887/C538050|C10.597.751.418.341.887/C538050|C23.888.592.763.393.341.887/C538050 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 COCHLEOSACCULAR DEGENERATION, INCLUDED|DEAFNESS, AUTOSOMAL DOMINANT 17|DFNA17|Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, autosomal dominant nonsyndromic sensorineural 22 MESH:C538197 MESH:D006319 C09.218.458.341.887/C538197|C10.597.751.418.341.887/C538197|C23.888.592.763.393.341.887/C538197 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Deafness, Autosomal Dominant 22|DFNA 22|DFNA22 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, autosomal dominant nonsyndromic sensorineural 23 MESH:C538198 MESH:D006319 C09.218.458.341.887/C538198|C10.597.751.418.341.887/C538198|C23.888.592.763.393.341.887/C538198 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, autosomal dominant nonsyndromic sensorineural 24 MESH:C538199 MESH:D006319 C09.218.458.341.887/C538199|C10.597.751.418.341.887/C538199|C23.888.592.763.393.341.887/C538199 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, autosomal dominant nonsyndromic sensorineural 3 MESH:C538200 MESH:D006313 C09.218.458.341.887.432/C538200|C09.218.807.186.432/C538200|C10.228.140.068.432/C538200|C10.597.751.418.341.887.432/C538200|C23.888.592.763.393.341.887.432/C538200 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C23.888.592.763.393.341.887.432 Neurosensory nonsyndromic dominant deafness 1 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, autosomal dominant nonsyndromic sensorineural 53 MESH:C538201 MESH:D006313 C09.218.458.341.887.432/C538201|C09.218.807.186.432/C538201|C10.228.140.068.432/C538201|C10.597.751.418.341.887.432/C538201|C23.888.592.763.393.341.887.432/C538201 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C23.888.592.763.393.341.887.432 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive MESH:C564609 MESH:D006319 C09.218.458.341.887/C564609|C10.597.751.418.341.887/C564609|C23.888.592.763.393.341.887/C564609 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 10 MESH:C565341 MESH:D006319 C09.218.458.341.887/C565341|C10.597.751.418.341.887/C565341|C23.888.592.763.393.341.887/C565341 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB10 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 101 OMIM:615837 DO:DOID:0110462 MESH:C566580 C09.218.458.341.887/C566580/615837|C10.597.751.418.341.887/C566580/615837|C23.888.592.763.393.341.887/C566580/615837 C09.218.458.341.887/C566580|C10.597.751.418.341.887/C566580|C23.888.592.763.393.341.887/C566580 DFNB101 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 102 OMIM:615974 DO:DOID:0110463 MESH:D003638 C09.218.458.341.186/615974|C10.597.751.418.341.186/615974|C23.888.592.763.393.341.186/615974 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB102 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 103 OMIM:616042 DO:DOID:0110464 MESH:D003638 C09.218.458.341.186/616042|C10.597.751.418.341.186/616042|C23.888.592.763.393.341.186/616042 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB103 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 104 OMIM:616515 DO:DOID:0110465 MESH:D003638 C09.218.458.341.186/616515|C10.597.751.418.341.186/616515|C23.888.592.763.393.341.186/616515 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB104 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 12 MESH:C563327 OMIM:601386 MESH:D006319 C09.218.458.341.887/C563327|C10.597.751.418.341.887/C563327|C23.888.592.763.393.341.887/C563327 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB12 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 13 MESH:C566410 OMIM:603098 MESH:D006319 C09.218.458.341.887/C566410|C10.597.751.418.341.887/C566410|C23.888.592.763.393.341.887/C566410 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB13 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 14 MESH:C566344 OMIM:603678 MESH:D006319 C09.218.458.341.887/C566344|C10.597.751.418.341.887/C566344|C23.888.592.763.393.341.887/C566344 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB14 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 15 MESH:C566611 OMIM:601869 MESH:D006319 C09.218.458.341.887/C566611|C10.597.751.418.341.887/C566611|C23.888.592.763.393.341.887/C566611 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DEAFNESS, AUTOSOMAL RECESSIVE 72|DEAFNESS, AUTOSOMAL RECESSIVE 95|DFMB15|DFNB15|DFNB72|DFNB95 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 16 MESH:C566339 OMIM:603720 MESH:D006319 C09.218.458.341.887/C566339|C10.597.751.418.341.887/C566339|C23.888.592.763.393.341.887/C566339 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB16 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 17 MESH:C566418 OMIM:603010 MESH:D006319 C09.218.458.341.887/C566418|C10.597.751.418.341.887/C566418|C23.888.592.763.393.341.887/C566418 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB17 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 18 MESH:C566580 MESH:D006319 C09.218.458.341.887/C566580|C10.597.751.418.341.887/C566580|C23.888.592.763.393.341.887/C566580 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB18 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 18A OMIM:602092 DO:DOID:0110473 MESH:C566580|MESH:D003638 C09.218.458.341.186/602092|C09.218.458.341.887/C566580/602092|C10.597.751.418.341.186/602092|C10.597.751.418.341.887/C566580/602092|C23.888.592.763.393.341.186/602092|C23.888.592.763.393.341.887/C566580/602092 C09.218.458.341.186|C09.218.458.341.887/C566580|C10.597.751.418.341.186|C10.597.751.418.341.887/C566580|C23.888.592.763.393.341.186|C23.888.592.763.393.341.887/C566580 DEAFNESS, AUTOSOMAL RECESSIVE 18|DFNB18|DFNB18A Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 18B OMIM:614945 DO:DOID:0110474 MESH:D003638 C09.218.458.341.186/614945|C10.597.751.418.341.186/614945|C23.888.592.763.393.341.186/614945 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB18B Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 1A MESH:C567134 OMIM:220290 MESH:D006319 C09.218.458.341.887/C567134|C10.597.751.418.341.887/C567134|C23.888.592.763.393.341.887/C567134 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Deafness, Digenic, Gjb2-Gjb3|DEAFNESS, DIGENIC, GJB2/GJB3, INCLUDED|Deafness, Digenic, Gjb2-Gjb6|DEAFNESS, DIGENIC, GJB2/GJB6, INCLUDED|DFNB1A Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 1b MESH:C567213 OMIM:612645 MESH:D006319 C09.218.458.341.887/C567213|C10.597.751.418.341.887/C567213|C23.888.592.763.393.341.887/C567213 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB1B Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 2 MESH:C564007 OMIM:600060 MESH:D006319 C09.218.458.341.887/C564007|C10.597.751.418.341.887/C564007|C23.888.592.763.393.341.887/C564007 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB2|Neurosensory Nonsyndromic Recessive Deafness 2|NSRD2 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 20 MESH:C565828 OMIM:604060 MESH:D006319 C09.218.458.341.887/C565828|C10.597.751.418.341.887/C565828|C23.888.592.763.393.341.887/C565828 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB20 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 21 MESH:C566353 OMIM:603629 MESH:D006319 C09.218.458.341.887/C566353|C10.597.751.418.341.887/C566353|C23.888.592.763.393.341.887/C566353 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB21 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 22 MESH:C564633 OMIM:607039 MESH:D006319 C09.218.458.341.887/C564633|C10.597.751.418.341.887/C564633|C23.888.592.763.393.341.887/C564633 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB22 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 23 MESH:C563705 OMIM:609533 MESH:D006319 C09.218.458.341.887/C563705|C10.597.751.418.341.887/C563705|C23.888.592.763.393.341.887/C563705 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB23 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive, 24 MESH:C567027 OMIM:611022 MESH:D006319 C09.218.458.341.887/C567027|C10.597.751.418.341.887/C567027|C23.888.592.763.393.341.887/C567027 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DEAFNESS, AUTOSOMAL RECESSIVE 24|DFNB24 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 25 OMIM:613285 DO:DOID:0110483 MESH:D003638 C09.218.458.341.186/613285|C10.597.751.418.341.186/613285|C23.888.592.763.393.341.186/613285 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB25 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 26 MESH:C565329 OMIM:605428 MESH:D006319 C09.218.458.341.887/C565329|C10.597.751.418.341.887/C565329|C23.888.592.763.393.341.887/C565329 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB26 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF OMIM:605429 MESH:C565329|MESH:D003638 C09.218.458.341.186/605429|C09.218.458.341.887/C565329/605429|C10.597.751.418.341.186/605429|C10.597.751.418.341.887/C565329/605429|C23.888.592.763.393.341.186/605429|C23.888.592.763.393.341.887/C565329/605429 C09.218.458.341.186|C09.218.458.341.887/C565329|C10.597.751.418.341.186|C10.597.751.418.341.887/C565329|C23.888.592.763.393.341.186|C23.888.592.763.393.341.887/C565329 DEAFNESS, NONSYNDROMIC, MODIFIER OF, 1|DFNB26M|DFNB26, MODIFIER OF|DFNB26, SUPPRESSOR OF|DFNM1 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 27 MESH:C565287 OMIM:605818 MESH:D006319 C09.218.458.341.887/C565287|C10.597.751.418.341.887/C565287|C23.888.592.763.393.341.887/C565287 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB27 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 28 MESH:C565218 OMIM:609823 MESH:D006319 C09.218.458.341.887/C565218|C10.597.751.418.341.887/C565218|C23.888.592.763.393.341.887/C565218 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB28 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 29 OMIM:614035 DO:DOID:0110487 MESH:D003638 C09.218.458.341.186/614035|C10.597.751.418.341.186/614035|C23.888.592.763.393.341.186/614035 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB29 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 3 MESH:C563961 OMIM:600316 MESH:D006319 C09.218.458.341.887/C563961|C10.597.751.418.341.887/C563961|C23.888.592.763.393.341.887/C563961 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB3|Neurosensory Nonsyndromic Recessive Deafness 3|NSRD3 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 30 MESH:C564624 OMIM:607101 MESH:D006319 C09.218.458.341.887/C564624|C10.597.751.418.341.887/C564624|C23.888.592.763.393.341.887/C564624 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB30 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 31 MESH:C564629 OMIM:607084 MESH:D006319 C09.218.458.341.887/C564629|C10.597.751.418.341.887/C564629|C23.888.592.763.393.341.887/C564629 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB31|Whirler, Mouse, Homolog Of Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 32 MESH:C563884 OMIM:608653 MESH:D006319 C09.218.458.341.887/C563884|C10.597.751.418.341.887/C563884|C23.888.592.763.393.341.887/C563884 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DEAFNESS, AUTOSOMAL RECESSIVE 105, FORMERLY|DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM|DFNB105, FORMERLY|DFNB32|HEARING IMPAIRMENT INFERTILE MALE SYNDROME|HIIMS Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 33 MESH:C564602 OMIM:607239 MESH:D006319 C09.218.458.341.887/C564602|C10.597.751.418.341.887/C564602|C23.888.592.763.393.341.887/C564602 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB33 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 35 MESH:C563908 OMIM:608565 MESH:D006319 C09.218.458.341.887/C563908|C10.597.751.418.341.887/C563908|C23.888.592.763.393.341.887/C563908 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB35 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 36 MESH:C563815 MESH:D006319 C09.218.458.341.887/C563815|C10.597.751.418.341.887/C563815|C23.888.592.763.393.341.887/C563815 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB36 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, OMIM:609006 DO:DOID:0110494 MESH:C567219|MESH:D003638 C09.218.458.341.186/609006|C09.218.458.341/C567219/609006|C10.597.751.418.341.186/609006|C10.597.751.418.341/C567219/609006|C23.888.592.763.393.341.186/609006|C23.888.592.763.393.341/C567219/609006 C09.218.458.341.186|C09.218.458.341/C567219|C10.597.751.418.341.186|C10.597.751.418.341/C567219|C23.888.592.763.393.341.186|C23.888.592.763.393.341/C567219 INCLUDED Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 36, Without Vestibular Involvement MESH:C567219 MESH:D034381 C09.218.458.341/C567219|C10.597.751.418.341/C567219|C23.888.592.763.393.341/C567219 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 37 MESH:C564331 OMIM:607821 MESH:D006319 C09.218.458.341.887/C564331|C10.597.751.418.341.887/C564331|C23.888.592.763.393.341.887/C564331 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB37 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 38 MESH:C564273 OMIM:608219 MESH:D006319 C09.218.458.341.887/C564273|C10.597.751.418.341.887/C564273|C23.888.592.763.393.341.887/C564273 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB38 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 39 MESH:C564265 OMIM:608265 MESH:D006319 C09.218.458.341.887/C564265|C10.597.751.418.341.887/C564265|C23.888.592.763.393.341.887/C564265 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB39 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 4 MESH:C566366 MESH:D006319 C09.218.458.341.887/C566366|C10.597.751.418.341.887/C566366|C23.888.592.763.393.341.887/C566366 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Dilated Vestibular Aqueduct|Enlarged Vestibular Aqueduct|Neurosensory Nonsyndromic Recessive Deafness 4 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 40 MESH:C564266 OMIM:608264 MESH:D006319 C09.218.458.341.887/C564266|C10.597.751.418.341.887/C564266|C23.888.592.763.393.341.887/C564266 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB40 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 42 MESH:C566460 OMIM:609646 MESH:D006319 C09.218.458.341.887/C566460|C10.597.751.418.341.887/C566460|C23.888.592.763.393.341.887/C566460 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB42 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 44 MESH:C565716 OMIM:610154 MESH:D006319 C09.218.458.341.887/C565716|C10.597.751.418.341.887/C565716|C23.888.592.763.393.341.887/C565716 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB44 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 45 OMIM:612433 DO:DOID:0110502 MESH:D003638 C09.218.458.341.186/612433|C10.597.751.418.341.186/612433|C23.888.592.763.393.341.186/612433 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB45 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 46 MESH:C566459 OMIM:609647 MESH:D006319 C09.218.458.341.887/C566459|C10.597.751.418.341.887/C566459|C23.888.592.763.393.341.887/C566459 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB46 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 47 MESH:C566498 OMIM:609946 MESH:D006319 C09.218.458.341.887/C566498|C10.597.751.418.341.887/C566498|C23.888.592.763.393.341.887/C566498 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB47 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 48 MESH:C563720 OMIM:609439 MESH:D006319 C09.218.458.341.887/C563720|C10.597.751.418.341.887/C563720|C23.888.592.763.393.341.887/C563720 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB48 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 49 MESH:C565717 OMIM:610153 MESH:D006319 C09.218.458.341.887/C565717|C10.597.751.418.341.887/C565717|C23.888.592.763.393.341.887/C565717 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB49 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT OMIM:600791 DO:DOID:0110498 MESH:D003638 C09.218.458.341.186/600791|C10.597.751.418.341.186/600791|C23.888.592.763.393.341.186/600791 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB4|DILATED VESTIBULAR AQUEDUCT|DVA|NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4|NSRD4 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 5 MESH:C563444 OMIM:600792 MESH:D006319 C09.218.458.341.887/C563444|C10.597.751.418.341.887/C563444|C23.888.592.763.393.341.887/C563444 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB5|Neurosensory Nonsyndromic Recessive Deafness 5|NSRD5 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, autosomal recessive 51 MESH:C538202 OMIM:609941 MESH:D006313 C09.218.458.341.887.432/C538202|C09.218.807.186.432/C538202|C10.228.140.068.432/C538202|C10.597.751.418.341.887.432/C538202|C23.888.592.763.393.341.887.432/C538202 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C23.888.592.763.393.341.887.432 DFNB51 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 53 MESH:C566453 OMIM:609706 MESH:D006319 C09.218.458.341.887/C566453|C10.597.751.418.341.887/C566453|C23.888.592.763.393.341.887/C566453 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB53 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, autosomal recessive 55 MESH:C538203 OMIM:609952 MESH:D006313 C09.218.458.341.887.432/C538203|C09.218.807.186.432/C538203|C10.228.140.068.432/C538203|C10.597.751.418.341.887.432/C538203|C23.888.592.763.393.341.887.432/C538203 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C23.888.592.763.393.341.887.432 DFNB55 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 59 MESH:C565698 OMIM:610220 MESH:D006319 C09.218.458.341.887/C565698|C10.597.751.418.341.887/C565698|C23.888.592.763.393.341.887/C565698 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB59 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 6 MESH:C563418 OMIM:600971 MESH:D006319 C09.218.458.341.887/C563418|C10.597.751.418.341.887/C563418|C23.888.592.763.393.341.887/C563418 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB6|Neurosensory Nonsyndromic Recessive Deafness 6|NSRD6 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 61 OMIM:613865 DO:DOID:0110513 MESH:D003638 C09.218.458.341.186/613865|C10.597.751.418.341.186/613865|C23.888.592.763.393.341.186/613865 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB61 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 62 MESH:C565719 OMIM:610143 MESH:D006319 C09.218.458.341.887/C565719|C10.597.751.418.341.887/C565719|C23.888.592.763.393.341.887/C565719 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB62 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 63 MESH:C566951 OMIM:611451 MESH:D006319 C09.218.458.341.887/C566951|C10.597.751.418.341.887/C566951|C23.888.592.763.393.341.887/C566951 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB63 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 65 MESH:C565211 OMIM:610248 MESH:D006319 C09.218.458.341.887/C565211|C10.597.751.418.341.887/C565211|C23.888.592.763.393.341.887/C565211 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB65 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 66 MESH:C565701 OMIM:610212 MESH:D006319 C09.218.458.341.887/C565701|C10.597.751.418.341.887/C565701|C23.888.592.763.393.341.887/C565701 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB66 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 67 MESH:C565207 OMIM:610265 MESH:D006319 C09.218.458.341.887/C565207|C10.597.751.418.341.887/C565207|C23.888.592.763.393.341.887/C565207 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB67 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 68 MESH:C563669 OMIM:610419 MESH:D006319 C09.218.458.341.887/C563669|C10.597.751.418.341.887/C563669|C23.888.592.763.393.341.887/C563669 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB68 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 7 MESH:C563417 OMIM:600974 MESH:D006319 C09.218.458.341.887/C563417|C10.597.751.418.341.887/C563417|C23.888.592.763.393.341.887/C563417 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Deafness, Autosomal Recessive 11|DFNB11|Dfnb7 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 70, WITH OR WITHOUT ADULT-ONSET NEURODEGENERATION OMIM:614934 DO:DOID:0110521 MESH:D003638 C09.218.458.341.186/614934|C10.597.751.418.341.186/614934|C23.888.592.763.393.341.186/614934 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB70 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 71 MESH:C567562 OMIM:612789 MESH:D006319 C09.218.458.341.887/C567562|C10.597.751.418.341.887/C567562|C23.888.592.763.393.341.887/C567562 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB71 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 74 OMIM:613718 DO:DOID:0110523 MESH:D003638 C09.218.458.341.186/613718|C10.597.751.418.341.186/613718|C23.888.592.763.393.341.186/613718 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB74 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 76 OMIM:615540 DO:DOID:0110524 MESH:D003638 C09.218.458.341.186/615540|C10.597.751.418.341.186/615540|C23.888.592.763.393.341.186/615540 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB76 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 77 MESH:C567543 OMIM:613079 MESH:D006319 C09.218.458.341.887/C567543|C10.597.751.418.341.887/C567543|C23.888.592.763.393.341.887/C567543 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB77 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 79 MESH:C567651 OMIM:613307 MESH:D006319 C09.218.458.341.887/C567651|C10.597.751.418.341.887/C567651|C23.888.592.763.393.341.887/C567651 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DFNB79 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 8 OMIM:601072 DO:DOID:0110527 MESH:C563395|MESH:C565341 C09.218.458.341.887/C563395/601072|C09.218.458.341.887/C565341/601072|C10.597.751.418.341.887/C563395/601072|C10.597.751.418.341.887/C565341/601072|C23.888.592.763.393.341.887/C563395/601072|C23.888.592.763.393.341.887/C565341/601072 C09.218.458.341.887/C563395|C09.218.458.341.887/C565341|C10.597.751.418.341.887/C563395|C10.597.751.418.341.887/C565341|C23.888.592.763.393.341.887/C563395|C23.888.592.763.393.341.887/C565341 DEAFNESS, AUTOSOMAL RECESSIVE 10|DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8|DFNB10|DFNB8|NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8|NSRD8 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 83 OMIM:613685 DO:DOID:0110528 MESH:D003638 C09.218.458.341.186/613685|C10.597.751.418.341.186/613685|C23.888.592.763.393.341.186/613685 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB83 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 84A OMIM:613391 DO:DOID:0110529 MESH:D003638 C09.218.458.341.186/613391|C10.597.751.418.341.186/613391|C23.888.592.763.393.341.186/613391 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DEAFNESS, AUTOSOMAL RECESSIVE 84|DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION|DFNB84|DFNB84A Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 84B OMIM:614944 DO:DOID:0110530 MESH:D003638 C09.218.458.341.186/614944|C10.597.751.418.341.186/614944|C23.888.592.763.393.341.186/614944 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB84B Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 85 OMIM:613392 DO:DOID:0110531 MESH:D003638 C09.218.458.341.186/613392|C10.597.751.418.341.186/613392|C23.888.592.763.393.341.186/613392 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB85 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 86 OMIM:614617 DO:DOID:0110532 MESH:D003638 C09.218.458.341.186/614617|C10.597.751.418.341.186/614617|C23.888.592.763.393.341.186/614617 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB86 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 88 OMIM:615429 DO:DOID:0110533 MESH:D003638 C09.218.458.341.186/615429|C10.597.751.418.341.186/615429|C23.888.592.763.393.341.186/615429 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB88 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 89 OMIM:613916 DO:DOID:0110534 MESH:D003638 C09.218.458.341.186/613916|C10.597.751.418.341.186/613916|C23.888.592.763.393.341.186/613916 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB89 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Autosomal Recessive 9 MESH:C563396 OMIM:601071 MESH:D006319 C09.218.458.341.887/C563396|C10.597.751.418.341.887/C563396|C23.888.592.763.393.341.887/C563396 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Auditory Neuropathy, Autosomal Recessive, 1|AUDITORY NEUROPATHY, NONSYNDROMIC RECESSIVE, INCLUDED|AUNB1, INCLUDED|DFNB9|Neurosensory Nonsyndromic Recessive Deafness 9|NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9;NSRD9 AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, INCLUDED|NSRAN, INCLUDED Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 91 OMIM:613453 DO:DOID:0110536 MESH:D003638 C09.218.458.341.186/613453|C10.597.751.418.341.186/613453|C23.888.592.763.393.341.186/613453 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB91 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 93 OMIM:614899 DO:DOID:0110537 MESH:D003638 C09.218.458.341.186/614899|C10.597.751.418.341.186/614899|C23.888.592.763.393.341.186/614899 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB93 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 97 OMIM:616705 DO:DOID:0110539 MESH:D003638 C09.218.458.341.186/616705|C10.597.751.418.341.186/616705|C23.888.592.763.393.341.186/616705 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB97 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, AUTOSOMAL RECESSIVE 98 OMIM:614861 DO:DOID:0110540 MESH:D003638 C09.218.458.341.186/614861|C10.597.751.418.341.186/614861|C23.888.592.763.393.341.186/614861 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNB98 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities MESH:C567467 OMIM:300719 MESH:D002386|MESH:D003638|MESH:D012174 C09.218.458.341.186/C567467|C10.597.751.418.341.186/C567467|C11.270.684/C567467|C11.510.245/C567467|C11.768.585.658.500/C567467|C16.320.290.684/C567467|C23.888.592.763.393.341.186/C567467 C09.218.458.341.186|C10.597.751.418.341.186|C11.270.684|C11.510.245|C11.768.585.658.500|C16.320.290.684|C23.888.592.763.393.341.186 Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 MESH:C563395 MESH:D006319 C09.218.458.341.887/C563395|C10.597.751.418.341.887/C563395|C23.888.592.763.393.341.887/C563395 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Neurosensory Nonsyndromic Recessive Deafness 8 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Cochlear, with Myopia and Intellectual Impairment MESH:C565645 MESH:D006314|MESH:D008607|MESH:D009216 C09.218.458.341.562/C565645|C10.597.606.360/C565645|C10.597.751.418.341.562/C565645|C11.744.636/C565645|C23.888.592.604.646/C565645|C23.888.592.763.393.341.562/C565645|F03.625.539/C565645 C09.218.458.341.562|C10.597.606.360|C10.597.751.418.341.562|C11.744.636|C23.888.592.604.646|C23.888.592.763.393.341.562|F03.625.539 Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Deafness conductive ptosis skeletal anomalies MESH:C535993 MESH:D001763|MESH:D001848|MESH:D006314 C05.116.099/C535993|C09.218.458.341.562/C535993|C10.597.751.418.341.562/C535993|C11.338.204/C535993|C23.888.592.763.393.341.562/C535993 C05.116.099|C09.218.458.341.562|C10.597.751.418.341.562|C11.338.204|C23.888.592.763.393.341.562 Deafness, Conductive, with Ptosis and Skeletal Anomalies|Jackson Barr syndrome Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy MESH:C565123 MESH:D005155|MESH:D006314 C07.465.299/C565123|C09.218.458.341.562/C565123|C10.292.319/C565123|C10.597.751.418.341.562/C565123|C23.888.592.763.393.341.562/C565123 C07.465.299|C09.218.458.341.562|C10.292.319|C10.597.751.418.341.562|C23.888.592.763.393.341.562 Ear-nose-throat disease|Mouth disease|Nervous system disease|Signs and symptoms Deafness, Conductive, with Malformed External Ear MESH:C565644 MESH:D006314 C09.218.458.341.562/C565644|C10.597.751.418.341.562/C565644|C23.888.592.763.393.341.562/C565644 C09.218.458.341.562|C10.597.751.418.341.562|C23.888.592.763.393.341.562 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Congenital, and Familial Myoclonic Epilepsy MESH:C565649 MESH:D003638|MESH:D004831 C09.218.458.341.186/C565649|C10.228.140.490.375.130/C565649|C10.228.140.490.493.063/C565649|C10.597.751.418.341.186/C565649|C23.888.592.763.393.341.186/C565649 C09.218.458.341.186|C10.228.140.490.375.130|C10.228.140.490.493.063|C10.597.751.418.341.186|C23.888.592.763.393.341.186 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Congenital, and Onychodystrophy, Autosomal Dominant MESH:C567274 OMIM:124480 MESH:D003638|MESH:D009264|MESH:D014071 C07.650.800/C567274|C07.793.700/C567274|C09.218.458.341.186/C567274|C10.597.751.418.341.186/C567274|C16.131.850.800/C567274|C23.300.820/C567274|C23.888.592.763.393.341.186/C567274 C07.650.800|C07.793.700|C09.218.458.341.186|C10.597.751.418.341.186|C16.131.850.800|C23.300.820|C23.888.592.763.393.341.186 DDOD|DDOD SYNDROME|DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT Congenital abnormality|Ear-nose-throat disease|Mouth disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Deafness, Congenital Heart Defects, and Posterior Embryotoxon MESH:C566604 MESH:D006330|MESH:D034381 C09.218.458.341/C566604|C10.597.751.418.341/C566604|C14.240.400/C566604|C14.280.400/C566604|C16.131.240.400/C566604|C23.888.592.763.393.341/C566604 C09.218.458.341|C10.597.751.418.341|C14.240.400|C14.280.400|C16.131.240.400|C23.888.592.763.393.341 Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, congenital onychodystrophy, recessive form MESH:C538204 DO:DOID:0111627 MESH:D003638|MESH:D005532|MESH:D006228|MESH:D008607 C05.330.495/C538204|C05.390.408/C538204|C05.660.585.512.380/C538204|C05.660.585.988.425/C538204|C09.218.458.341.186/C538204|C10.597.606.360/C538204|C10.597.751.418.341.186/C538204|C16.131.621.585.512.500/C538204|C16.131.621.585.988.500/C538204|C23.888.592.604.646/C538204|C23.888.592.763.393.341.186/C538204|F03.625.539/C538204 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C09.218.458.341.186|C10.597.606.360|C10.597.751.418.341.186|C16.131.621.585.512.500|C16.131.621.585.988.500|C23.888.592.604.646|C23.888.592.763.393.341.186|F03.625.539 Deafness, Onycho-Osteodystrophy, mental Retardation syndrome Congenital abnormality|Ear-nose-throat disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia MESH:C565195 OMIM:610706 MESH:D006319|MESH:D014071|MESH:D065817 C07.650.800/C565195|C07.793.700/C565195|C09.218.235/C565195|C09.218.458.341.887/C565195|C10.597.751.418.341.887/C565195|C16.131.287/C565195|C16.131.850.800/C565195|C23.888.592.763.393.341.887/C565195 C07.650.800|C07.793.700|C09.218.235|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.287|C16.131.850.800|C23.888.592.763.393.341.887 Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia|Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia|Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia|Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM)|Deafness with Lamm|Lamm Syndrome Congenital abnormality|Ear-nose-throat disease|Mouth disease|Nervous system disease|Signs and symptoms Deafness, Congenital, with Total Albinism MESH:C565646 MESH:D006319|MESH:D016115 C09.218.458.341.887/C565646|C10.597.751.418.341.887/C565646|C11.270.040.545/C565646|C16.320.290.040.100/C565646|C16.320.565.100.102.100/C565646|C16.320.850.080.100/C565646|C17.800.621.440.102.100/C565646|C17.800.827.080.100/C565646|C18.452.648.100.102.100/C565646|C23.888.592.763.393.341.887/C565646 C09.218.458.341.887|C10.597.751.418.341.887|C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100|C23.888.592.763.393.341.887 Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease Deafness, Congenital, with Vitiligo and Achalasia MESH:C565642 MESH:D003638|MESH:D004931|MESH:D014820 C06.405.117.119.500.432/C565642|C09.218.458.341.186/C565642|C10.597.751.418.341.186/C565642|C17.800.621.440.895/C565642|C23.888.592.763.393.341.186/C565642 C06.405.117.119.500.432|C09.218.458.341.186|C10.597.751.418.341.186|C17.800.621.440.895|C23.888.592.763.393.341.186 Digestive system disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms|Skin disease Deafness-Craniofacial Syndrome MESH:C565118 MESH:D019066|MESH:D034381 C09.218.458.341/C565118|C10.597.751.418.341/C565118|C23.550.291.812/C565118|C23.888.592.763.393.341/C565118 C09.218.458.341|C10.597.751.418.341|C23.550.291.812|C23.888.592.763.393.341 Ear-nose-throat disease|Nervous system disease|Pathology (process)|Signs and symptoms Deafness enamel hypoplasia nail defects MESH:C535994 OMIM:234580|OMIM:616617 MESH:D000567|MESH:D006319|MESH:D009264 C07.650.800.295.250/C535994|C07.793.700.295.250/C535994|C09.218.458.341.887/C535994|C10.597.751.418.341.887/C535994|C16.131.850.800.295.250/C535994|C23.300.820/C535994|C23.888.592.763.393.341.887/C535994 C07.650.800.295.250|C07.793.700.295.250|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.850.800.295.250|C23.300.820|C23.888.592.763.393.341.887 Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects|Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects|Heimler syndrome|HEIMLER SYNDROME 1|HEIMLER SYNDROME 2|HMLR1|HMLR2|PBD1C|PBD4C|PEROXISOME BIOGENESIS DISORDER 1C|PEROXISOME BIOGENESIS DISORDER 4C|Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities Congenital abnormality|Ear-nose-throat disease|Mouth disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Deafness, High-Frequency Sensorineural, X-Linked MESH:C564432 MESH:D006319|MESH:D040181 C09.218.458.341.887/C564432|C10.597.751.418.341.887/C564432|C16.320.322/C564432|C23.888.592.763.393.341.887/C564432 C09.218.458.341.887|C10.597.751.418.341.887|C16.320.322|C23.888.592.763.393.341.887 Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Deafness hyperuricemia neurologic ataxia MESH:C535995 MESH:D001259|MESH:D003638|MESH:D008661 C09.218.458.341.186/C535995|C10.597.350.090/C535995|C10.597.751.418.341.186/C535995|C16.320.565/C535995|C18.452.648/C535995|C23.888.592.350.090/C535995|C23.888.592.763.393.341.186/C535995 C09.218.458.341.186|C10.597.350.090|C10.597.751.418.341.186|C16.320.565|C18.452.648|C23.888.592.350.090|C23.888.592.763.393.341.186 Ear-nose-throat disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Deafness-Hypogonadism Syndrome MESH:C564435 MESH:D007006|MESH:D046089 C09.218.458.341.849/C564435|C10.597.751.418.341.849/C564435|C19.391.482/C564435|C23.888.592.763.393.341.849/C564435 C09.218.458.341.849|C10.597.751.418.341.849|C19.391.482|C23.888.592.763.393.341.849 Ear-nose-throat disease|Endocrine system disease|Nervous system disease|Signs and symptoms Deafness, Mid-Tone Neural MESH:C565122 MESH:D006319 C09.218.458.341.887/C565122|C10.597.751.418.341.887/C565122|C23.888.592.763.393.341.887/C565122 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness nephritis ano rectal malformation MESH:C535996 MESH:D000015|MESH:D001006|MESH:D006313|MESH:D009394 C06.198.050/C535996|C09.218.458.341.887.432/C535996|C09.218.807.186.432/C535996|C10.228.140.068.432/C535996|C10.597.751.418.341.887.432/C535996|C12.050.351.875.742/C535996|C12.050.351.968.419.570.620/C535996|C12.200.706.742/C535996|C12.200.777.419.570.620/C535996|C12.800.742/C535996|C12.950.419.570.620/C535996|C16.131.077/C535996|C16.131.314.094/C535996|C16.131.939.742/C535996|C17.300.200.517/C535996|C23.888.592.763.393.341.887.432/C535996 C06.198.050|C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C12.050.351.875.742|C12.050.351.968.419.570.620|C12.200.706.742|C12.200.777.419.570.620|C12.800.742|C12.950.419.570.620|C16.131.077|C16.131.314.094|C16.131.939.742|C17.300.200.517|C23.888.592.763.393.341.887.432 Dominant ano-rectal malformation, nephritis and nerve-deafness Congenital abnormality|Connective tissue disease|Digestive system disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Deafness, Neural, Congenital Moderate MESH:C565640 MESH:D006313 C09.218.458.341.887.432/C565640|C09.218.807.186.432/C565640|C10.228.140.068.432/C565640|C10.597.751.418.341.887.432/C565640|C23.888.592.763.393.341.887.432/C565640 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C23.888.592.763.393.341.887.432 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Neural, with Atypical Atopic Dermatitis MESH:C565639 MESH:D003876|MESH:D006314 C09.218.458.341.562/C565639|C10.597.751.418.341.562/C565639|C16.320.850.210/C565639|C17.800.174.193/C565639|C17.800.815.193/C565639|C17.800.827.210/C565639|C20.543.480.343/C565639|C23.888.592.763.393.341.562/C565639 C09.218.458.341.562|C10.597.751.418.341.562|C16.320.850.210|C17.800.174.193|C17.800.815.193|C17.800.827.210|C20.543.480.343|C23.888.592.763.393.341.562 Ear-nose-throat disease|Genetic disease (inborn)|Immune system disease|Nervous system disease|Signs and symptoms|Skin disease Deafness, neurosensory, autosomal recessive 47 MESH:C538205 MESH:D006313 C09.218.458.341.887.432/C538205|C09.218.807.186.432/C538205|C10.228.140.068.432/C538205|C10.597.751.418.341.887.432/C538205|C23.888.592.763.393.341.887.432/C538205 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C23.888.592.763.393.341.887.432 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness oligodontia syndrome MESH:C538049 MESH:D000848|MESH:D006319 C07.650.800.100/C538049|C07.793.700.100/C538049|C09.218.458.341.887/C538049|C10.597.751.418.341.887/C538049|C16.131.850.800.100/C538049|C23.888.592.763.393.341.887/C538049 C07.650.800.100|C07.793.700.100|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.850.800.100|C23.888.592.763.393.341.887 Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia|Congenital profound sensorineural deafness and oligodontia|Deafness-Oligodontia Syndrome Congenital abnormality|Ear-nose-throat disease|Mouth disease|Nervous system disease|Signs and symptoms Deafness, Progressive High-Tone Neural MESH:C562423 MESH:D006319 C09.218.458.341.887/C562423|C10.597.751.418.341.887/C562423|C23.888.592.763.393.341.887/C562423 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Progressive, With Stapes Fixation MESH:C563316 MESH:D006314 C09.218.458.341.562/C563316|C10.597.751.418.341.562/C563316|C23.888.592.763.393.341.562/C563316 C09.218.458.341.562|C10.597.751.418.341.562|C23.888.592.763.393.341.562 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Sensorineural, And Male Infertility MESH:C567010 OMIM:611102 MESH:D002872|MESH:D006319|MESH:D007248 C09.218.458.341.887/C567010|C10.597.751.418.341.887/C567010|C12.100.500.430/C567010|C12.100.750.700/C567010|C12.200.294.430/C567010|C23.550.210.050.500.500/C567010|C23.888.592.763.393.341.887/C567010 C09.218.458.341.887|C10.597.751.418.341.887|C12.100.500.430|C12.100.750.700|C12.200.294.430|C23.550.210.050.500.500|C23.888.592.763.393.341.887 Chromosome 15q15.3 Deletion Syndrome|Deafness-Infertility Syndrome|DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY|DIS|Sensorineural Deafness and Male Infertility Ear-nose-throat disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (male) Deafness, Sensorineural, Autosomal-Mitochondrial Type MESH:C565637 OMIM:500008 MESH:D006319 C09.218.458.341.887/C565637|C10.597.751.418.341.887/C565637|C23.888.592.763.393.341.887/C565637 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Sensorineural, with Hypertrophic Cardiomyopathy MESH:C565236 MESH:D002312|MESH:D006319 C09.218.458.341.887/C565236|C10.597.751.418.341.887/C565236|C14.280.238.100/C565236|C14.280.484.048.750.070.160/C565236|C23.888.592.763.393.341.887/C565236 C09.218.458.341.887|C10.597.751.418.341.887|C14.280.238.100|C14.280.484.048.750.070.160|C23.888.592.763.393.341.887 Cardiovascular disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease MESH:C565120 MESH:D006319|MESH:D011115|MESH:D058729 C09.218.458.341.887/C565120|C10.597.751.418.341.887/C565120|C10.668.829.800/C565120|C14.907.137.126.307.500/C565120|C14.907.617.671/C565120|C23.888.592.763.393.341.887/C565120 C09.218.458.341.887|C10.597.751.418.341.887|C10.668.829.800|C14.907.137.126.307.500|C14.907.617.671|C23.888.592.763.393.341.887 Cardiovascular disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness, Unilateral, With Delayed Endolymphatic Hydrops MESH:C567420 MESH:D034381 C09.218.458.341/C567420|C10.597.751.418.341/C567420|C23.888.592.763.393.341/C567420 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deafness with Anhidrotic Ectodermal Dysplasia MESH:C565119 MESH:D004476|MESH:D034381 C09.218.458.341/C565119|C10.597.751.418.341/C565119|C16.131.077.350/C565119|C16.131.831.350/C565119|C16.320.850.250/C565119|C17.800.804.350/C565119|C17.800.827.250/C565119|C23.888.592.763.393.341/C565119 C09.218.458.341|C10.597.751.418.341|C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.888.592.763.393.341 Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease Deafness, X-Linked 1 MESH:C564433 OMIM:304500 MESH:D006319|MESH:D040181 C09.218.458.341.887/C564433|C10.597.751.418.341.887/C564433|C16.320.322/C564433|C23.888.592.763.393.341.887/C564433 C09.218.458.341.887|C10.597.751.418.341.887|C16.320.322|C23.888.592.763.393.341.887 Deafness, X-Linked 2, Sensorineural Congenital|DFN2|DFNX1 Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Deafness, X-Linked 3 MESH:C564727 OMIM:300030 MESH:D006319|MESH:D040181 C09.218.458.341.887/C564727|C10.597.751.418.341.887/C564727|C16.320.322/C564727|C23.888.592.763.393.341.887/C564727 C09.218.458.341.887|C10.597.751.418.341.887|C16.320.322|C23.888.592.763.393.341.887 Deafness, X-Linked 4, Congenital Sensorineural|DFN4|DFNX3 Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Deafness, X-Linked 4 MESH:C564723 OMIM:300066 MESH:D006319|MESH:D040181 C09.218.458.341.887/C564723|C10.597.751.418.341.887/C564723|C16.320.322/C564723|C23.888.592.763.393.341.887/C564723 C09.218.458.341.887|C10.597.751.418.341.887|C16.320.322|C23.888.592.763.393.341.887 Deafness, Nonsyndromic Sensorineural Progressive 6|Deafness, X-Linked 6, Progressive|DFN6|DFNX4 Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Deafness, X-Linked 5 MESH:C564472 OMIM:300614 MESH:D000160|MESH:D006319|MESH:D010523|MESH:D040181 C09.218.458.341.887/C564472|C09.218.807.800/C564472|C10.292.910/C564472|C10.597.751.418.341.887/C564472|C10.668.829/C564472|C16.320.322/C564472|C23.888.592.763.393.341.887/C564472 C09.218.458.341.887|C09.218.807.800|C10.292.910|C10.597.751.418.341.887|C10.668.829|C16.320.322|C23.888.592.763.393.341.887 Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy|AUNX1|DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY|DFNX5 Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms DEAFNESS, X-LINKED 6 OMIM:300914 DO:DOID:0111740 MESH:D003638 C09.218.458.341.186/300914|C10.597.751.418.341.186/300914|C23.888.592.763.393.341.186/300914 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNX6 Ear-nose-throat disease|Nervous system disease|Signs and symptoms DEAFNESS, Y-LINKED 1 OMIM:400043 DO:DOID:0111759 MESH:D003638 C09.218.458.341.186/400043|C10.597.751.418.341.186/400043|C23.888.592.763.393.341.186/400043 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DFNY1 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Deal Barratt Dillon syndrome MESH:C538206 MESH:D000013|MESH:D005198|MESH:D007057|MESH:D007565 C12.050.351.968.419.815.450/C538206|C12.200.777.419.815.450/C538206|C12.950.419.815.450/C538206|C16.131.831.512/C538206|C16.131/C538206|C16.320.831.450/C538206|C16.614.492/C538206|C17.800.428.333/C538206|C17.800.804.512/C538206|C23.550.429.500/C538206|C23.888.885.375/C538206 C12.050.351.968.419.815.450|C12.200.777.419.815.450|C12.950.419.815.450|C16.131|C16.131.831.512|C16.320.831.450|C16.614.492|C17.800.428.333|C17.800.804.512|C23.550.429.500|C23.888.885.375 Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Pathology (process)|Signs and symptoms|Skin disease|Urogenital disease (female)|Urogenital disease (male) Death MESH:D003643 Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions. MESH:D010335 C23.550.260 C23.550 Cardiac Death|Death, Cardiac|Determination of Death|End Of Life|End-Of-Life|Near-Death Experience Pathology (process) Death, Sudden MESH:D003645 The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions. MESH:D003643 C23.550.260.322 C23.550.260 Sudden Death Pathology (process) Death, Sudden, Cardiac MESH:D016757 Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005) MESH:D003645|MESH:D006323 C14.280.383.220|C23.550.260.322.250 C14.280.383|C23.550.260.322 Arrest, Sudden Cardiac|Cardiac Arrests, Sudden|Cardiac Arrest, Sudden|Cardiac Death, Sudden|Cardiac Sudden Death|Death, Cardiac Sudden|Death, Sudden Cardiac|Sudden Cardiac Arrest|Sudden Cardiac Death|Sudden Death, Cardiac Cardiovascular disease|Pathology (process) De Barsy syndrome MESH:C535990 DO:DOID:0070143 MESH:D003318|MESH:D003483|MESH:D008607 C10.597.606.360/C535990|C11.204.299/C535990|C16.320.850.180/C535990|C17.300.230/C535990|C17.800.827.180/C535990|C23.888.592.604.646/C535990|F03.625.539/C535990 C10.597.606.360|C11.204.299|C16.320.850.180|C17.300.230|C17.800.827.180|C23.888.592.604.646|F03.625.539 Corneal clouding cutis laxa mental retardation|Cutis Laxa, Corneal Clouding, And Mental Retardation|De Barsy Moens Diercks syndrome|Progeroid syndrome of De Barsy Connective tissue disease|Eye disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Decalcification, Pathologic MESH:D003649 The loss of calcium salts from bones and teeth. Bacteria may be responsible for this occurrence in teeth. Old age may be a factor contributing to calcium loss, as is the presence of diseases such as rheumatoid arthritis. MESH:D002128|MESH:D018488 C05.116.198.247.400|C18.452.104.247.400|C18.452.174.289 C05.116.198.247|C18.452.104.247|C18.452.174 Decalcification, Pathological|Pathological Decalcification|Pathologic Decalcification Metabolic disease|Musculoskeletal disease Decapitation MESH:D049248 Traumatic or experimentally induced separation of the head from the body in an animal or human. MESH:D014950 C26.986.224 C26.986 Decapitations Wounds and injuries Decerebrate State MESH:D003655 A condition characterized by abnormal posturing of the limbs that is associated with injury to the brainstem. This may occur as a clinical manifestation or induced experimentally in animals. The extensor reflexes are exaggerated leading to rigid extension of the limbs accompanied by hyperreflexia and opisthotonus. This condition is usually caused by lesions which occur in the region of the brainstem that lies between the red nuclei and the vestibular nuclei. In contrast, decorticate rigidity is characterized by flexion of the elbows and wrists with extension of the legs and feet. The causative lesion for this condition is located above the red nuclei and usually consists of diffuse cerebral damage. (From Adams et al., Principles of Neurology, 6th ed, p358) MESH:D009461 C10.597.305|C23.888.592.298 C10.597|C23.888.592 Decerebrate Posturing|Decerebrate Posturings|Decerebrate Rigidity|Decerebrate States|Decorticate Rigidities|Decorticate Rigidity|Decorticate State|Decorticate States|Posturing, Decerebrate|Posturings, Decerebrate|Rigidities, Decorticate|Rigidity, Decerebrate|Rigidity, Decorticate|State, Decerebrate|States, Decerebrate Nervous system disease|Signs and symptoms Decompression Sickness MESH:D003665 A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death. MESH:D001469 C26.120.248 C26.120 Bends|Caisson Disease|Caisson Diseases|Disease, Caisson|Diseases, Caisson|Sickness, Decompression Wounds and injuries Deficiency Diseases MESH:D003677 DO:DOID:5113 A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) MESH:D044342 C18.654.521.500 C18.654.521 Deficiency Disease|Disease, Deficiency|Diseases, Deficiency Nutrition disorder deficiency of adenosine deaminase 2 MESH:C000723487 MESH:D056660 C16.320.382/C000723487|C17.800.827.368/C000723487 C16.320.382|C17.800.827.368 ADA2 deficiency|DADA2 deficiency of adenosine deaminase 2|VAIHS vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome|vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome Genetic disease (inborn)|Skin disease Deficiency of interleukin-1 receptor antagonist MESH:C557815 MESH:D056660 C16.320.382/C557815|C17.800.827.368/C557815 C16.320.382|C17.800.827.368 Deficiency Of Interleukin 1 Receptor Antagonist|Deficiency of interleukin-1 receptor antagonist (DIRA)|Deficiency of interleukin(IL)-1 receptor antagonist|Interleukin 1 receptor antagonist deficiency|Osteomyelitis, sterile multifocal, with periostitis and pustulosis Genetic disease (inborn)|Skin disease Degloving Injuries MESH:D000069836 Avulsions of the superficial tissues of SKIN and SUBCUTANEOUS TISSUE from the underlying FASCIA. MESH:D017695 C26.808.500 C26.808 Avulsion Injuries, Skin|Avulsion Injury, Skin|Avulsion, Skin|Avulsions, Skin|Degloving Injury|Degloving Wound|Degloving Wounds|Injuries, Degloving|Injuries, Skin Avulsion|Injury, Degloving|Injury, Skin Avulsion|Skin Avulsion|Skin Avulsion Injuries|Skin Avulsion Injury|Skin Avulsions|Wound, Degloving|Wounds, Degloving Wounds and injuries Deglutition Disorders MESH:D003680 Difficulty in SWALLOWING which may result from neuromuscular disorder or mechanical obstruction. Dysphagia is classified into two distinct types: oropharyngeal dysphagia due to malfunction of the PHARYNX and UPPER ESOPHAGEAL SPHINCTER; and esophageal dysphagia due to malfunction of the ESOPHAGUS. MESH:D004935|MESH:D010608 C06.405.117.119|C09.775.174 C06.405.117|C09.775 Deglutition Disorder|Disorders, Deglutition|Dysphagia|Dysphagia, Esophageal|Dysphagia, Oropharyngeal|Esophageal Dysphagia|Oropharyngeal Dysphagia|Swallowing Disorder|Swallowing Disorders Digestive system disease|Ear-nose-throat disease De Hauwere Leroy Adriaenssens syndrome MESH:C535991 MESH:D006972|MESH:D007499|MESH:D011596 C05.116.099.370.231.480/C535991|C05.660.207.231.480/C535991|C10.597.606.881/C535991|C11.941.375/C535991|C16.131.621.207.231.480/C535991|C23.888.592.604.882/C535991 C05.116.099.370.231.480|C05.660.207.231.480|C10.597.606.881|C11.941.375|C16.131.621.207.231.480|C23.888.592.604.882 Iris dysplasia, orbital hypertelorism, and psychomotor retardation Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema MESH:C566369 OMIM:194380 MESH:D000745|MESH:D006947|MESH:D015160 C12.050.703.277.060.480/C566369|C15.378.071.141.150/C566369|C15.378.295.480/C566369|C15.378.420.826.100.350/C566369|C16.300.060.480/C566369|C16.320.070/C566369|C16.320.365.826.100.350/C566369|C18.452.950.396/C566369|C20.306.480/C566369|C23.888.277.395/C566369 C12.050.703.277.060.480|C15.378.071.141.150|C15.378.295.480|C15.378.420.826.100.350|C16.300.060.480|C16.320.070|C16.320.365.826.100.350|C18.452.950.396|C20.306.480|C23.888.277.395 DEHYDRATED HEREDITARY STOMATOCYTOSIS|DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA|DESICCYTOSIS, HEREDITARY|DHS|DHS1|PSEUDOHYPERKALEMIA EDINBURGH|PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK|PSHK1|XEROCYTOSIS, HEREDITARY Blood disease|Fetal disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Pregnancy complication|Signs and symptoms Dehydration MESH:D003681 The condition that results from excessive loss of water from a living organism. MESH:D010335|MESH:D014883 C18.452.950.179|C23.550.274 C18.452.950|C23.550 Stress, Water|Water Stress Metabolic disease|Pathology (process) De Lange Syndrome MESH:D003635 DO:DOID:11725|OMIM:122470|OMIM:300590|OMIM:610759|OMIM:614701 A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231) MESH:D000015|MESH:D008607|MESH:D025063 C10.597.606.360.210|C16.131.077.272|C16.131.260.210|C16.320.180.210 C10.597.606.360|C16.131.077|C16.131.260|C16.320.180 Amstelodamensis, Typus Degenerativus|BDLS|Brachmann De Lange Syndrome|Brachmann-De Lange Syndrome|CDL|CDLS|CDLS1|CdLS2|CDLS3|CDLS4|CdLSs, X-Linked|CdLS, X Linked|CdLS, X-Linked|Cornelia De Lange Syndrome|Cornelia de Lange Syndrome 1|Cornelia de Lange Syndrome 2|Cornelia de Lange Syndrome 3|CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS|CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS|Cornelia de Lange Syndrome, X Linked|Cornelia de Lange Syndrome, X-Linked|De Lange's Syndrome|DE LANGE SYNDROME|Syndrome, Brachmann-De Lange|Typus Degenerativus Amstelodamensis|X-Linked CdLS|X-Linked CdLSs Congenital abnormality|Genetic disease (inborn)|Nervous system disease Delayed Cranial Ossification due to CBFB Haploinsufficiency MESH:C565160 MESH:D000015|MESH:D005183|MESH:D025063 C16.131.077/C565160|C16.131.260/C565160|C16.320.180/C565160|C23.888.338/C565160 C16.131.077|C16.131.260|C16.320.180|C23.888.338 Congenital abnormality|Genetic disease (inborn)|Signs and symptoms Delayed Emergence from Anesthesia MESH:D055191 Abnormally slow pace of regaining CONSCIOUSNESS after general anesthesia (ANESTHESIA, GENERAL) usually given during surgical procedures. This condition is characterized by persistent somnolence. MESH:D011183 C23.550.767.137 C23.550.767 Awakening, Post-Anesthesia Delayed|Awakenings, Post-Anesthesia Delayed|Blockade, Residual Neuromuscular|Blockades, Residual Neuromuscular|Block, Residual|Block, Residual Neuromuscular|Blocks, Residual|Blocks, Residual Neuromuscular|Curarization, Postoperative Residual|Curarizations, Postoperative Residual|Delayed Awakening from Anesthesia|Delayed Awakening, Post Anesthesia|Delayed Awakening, Post-Anesthesia|Delayed Awakening, Post Procedural|Delayed Awakening, Post-Procedural|Delayed Awakenings, Post-Anesthesia|Delayed Awakenings, Post-Procedural|Delayed Recovery from Anesthesia|Delayed Regaining of Consciousness|Delayed Return of Consciousness|Neuromuscular Blockade, Residual|Neuromuscular Blockades, Residual|Neuromuscular Block, Residual|Neuromuscular Blocks, Residual|Paralyses, Post-Anesthesia Residual|Paralysis, Post-Anesthesia Residual|Post-Anesthesia Delayed Awakening|Post-Anesthesia Delayed Awakenings|Post-Anesthesia Residual Paralyses|Post-Anesthesia Residual Paralysis|Postoperative Residual Curarisation|Postoperative Residual Curarisations|Postoperative Residual Curarization|Postoperative Residual Curarizations|Postoperative Residual Weakness|Postoperative Residual Weaknesses|Post-Procedural Delayed Awakening|Post-Procedural Delayed Awakenings|Residual Block|Residual Blocks|Residual Curarisation, Postoperative|Residual Curarisations, Postoperative|Residual Curarization, Postoperative|Residual Curarizations, Postoperative|Residual Neuromuscular Block|Residual Neuromuscular Blockade|Residual Neuromuscular Blockades|Residual Neuromuscular Blocks|Residual Paralyses, Post-Anesthesia|Residual Paralysis, Post Anesthesia|Residual Paralysis, Post-Anesthesia|Residual Weaknesses, Postoperative|Residual Weakness, Postoperative|Weaknesses, Postoperative Residual|Weakness, Postoperative Residual Pathology (process) Delayed Graft Function MESH:D051799 General dysfunction of an organ occurring immediately following its transplantation. The term most frequently refers to renal dysfunction following KIDNEY TRANSPLANTATION. MESH:D010335 C23.550.277 C23.550 Graft Function, Delayed Pathology (process) Deletion 13q syndrome, partial MESH:C535449 MESH:D002872|MESH:D025063 C16.131.260/C535449|C16.320.180/C535449|C23.550.210.050.500.500/C535449 C16.131.260|C16.320.180|C23.550.210.050.500.500 13q- syndrome, partial|Chromosome 13, partial monosomy 13q|Monosomy 13q, partial|Partial monosomy of the long arm of chromosome 13 Congenital abnormality|Genetic disease (inborn)|Pathology (process) Deletion 6q16 q21 MESH:C538207 MESH:D002872 C23.550.210.050.500.500/C538207 C23.550.210.050.500.500 Monosomy 6q16 q21 Pathology (process) Delirium MESH:D003693 DO:DOID:8645 A disorder characterized by CONFUSION; inattentiveness; disorientation; ILLUSIONS; HALLUCINATIONS; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2) MESH:D003221|MESH:D019965 C10.597.606.337.500|C23.888.592.604.339.500|F03.615.350 C10.597.606.337|C23.888.592.604.339|F03.615 Delirium of Mixed Origin|Deliriums, Subacute|Delirium, Subacute|Mixed Origin Delirium|Mixed Origin Deliriums|Subacute Delirium|Subacute Deliriums Mental disorder|Nervous system disease|Signs and symptoms Delta-Beta Thalassemia MESH:C562716 MESH:D017086|MESH:D055538 C15.378.071.141.150.875.150/C562716|C15.378.071.141.150.875.575/C562716|C15.378.420.826.150/C562716|C15.378.420.826.200/C562716|C16.320.070.875.150/C562716|C16.320.070.875.575/C562716|C16.320.365.826.150/C562716|C16.320.365.826.575/C562716 C15.378.071.141.150.875.150|C15.378.071.141.150.875.575|C15.378.420.826.150|C15.378.420.826.200|C16.320.070.875.150|C16.320.070.875.575|C16.320.365.826.150|C16.320.365.826.575 Blood disease|Genetic disease (inborn) Deltaretrovirus Infections MESH:D006800 Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED). MESH:D007153|MESH:D012192 C01.925.782.815.200|C20.673.483 C01.925.782.815|C20.673 BLV Infection|BLV Infections|Deltaretrovirus Infection|HTLV-BLV Infection|HTLV BLV Infections|HTLV-BLV Infections|HTLV Infection|HTLV Infections|Infection, Deltaretrovirus|Infections, Deltaretrovirus Immune system disease|Viral disease delta-Thalassemia MESH:D055538 A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA. MESH:D013789 C15.378.071.141.150.875.575|C15.378.420.826.200|C16.320.070.875.575|C16.320.365.826.575 C15.378.071.141.150.875|C15.378.420.826|C16.320.070.875|C16.320.365.826 delta Thalassemia|delta-Thalassemias Blood disease|Genetic disease (inborn) Delusional Parasitosis MESH:D063726 A delusional disorder of belief in infestation by insects or other parasites. This FORMICATION is typically accompanied by dermatological manifestation such as PRURITUS that may lead to self-mutilation in order to remove the perceived parasites. It can be either primary or secondary to a somatic or psychiatric condition. MESH:D019967 F03.700.356 F03.700 Delusional Parasitoses|Delusional Parasitoses, Ekbom|Delusional Parasitosis, Ekbom|Delusion, Dermatozoic|Delusion, Ekbom Dermatozoic|Delusions, Dermatozoic|Delusions, Ekbom Dermatozoic|Delusory Parasitoses|Delusory Parasitoses, Ekbom|Delusory Parasitosis|Delusory Parasitosis, Ekbom|Dermatozoic Delusion|Dermatozoic Delusion, Ekbom|Dermatozoic Delusions|Dermatozoic Delusions, Ekbom|Ekbom Delusional Parasitoses|Ekbom Delusional Parasitosis|Ekbom Delusory Parasitoses|Ekbom Delusory Parasitosis|Ekbom Dermatozoic Delusion|Ekbom Dermatozoic Delusions|Ekbom Psychogenic Parasitoses|Ekbom Psychogenic Parasitosis|Parasitoses, Delusional|Parasitoses, Delusory|Parasitoses, Ekbom Delusional|Parasitoses, Ekbom Delusory|Parasitoses, Ekbom Psychogenic|Parasitoses, Psychogenic|Parasitosis, Delusional|Parasitosis, Delusory|Parasitosis, Ekbom Delusional|Parasitosis, Ekbom Delusory|Parasitosis, Ekbom Psychogenic|Parasitosis, Psychogenic|Psychogenic Parasitoses|Psychogenic Parasitoses, Ekbom|Psychogenic Parasitosis|Psychogenic Parasitosis, Ekbom Mental disorder Dementia MESH:D003704 An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness. MESH:D001927|MESH:D019965 C10.228.140.380|F03.615.400 C10.228.140|F03.615 Amentia|Amentias|Dementia, Familial|Dementias|Dementias, Familial|Dementias, Senile Paranoid|Familial Dementia|Familial Dementias|Paranoid Dementia, Senile|Paranoid Dementias, Senile|Senile Paranoid Dementia|Senile Paranoid Dementias Mental disorder|Nervous system disease Dementia, familial Danish MESH:C538209 OMIM:117300 MESH:D002386|MESH:D002524|MESH:D003638|MESH:D003704 C09.218.458.341.186/C538209|C10.228.140.252.190/C538209|C10.228.140.380/C538209|C10.597.350.090.500/C538209|C10.597.751.418.341.186/C538209|C11.510.245/C538209|C23.888.592.350.090.200/C538209|C23.888.592.763.393.341.186/C538209|F03.615.400/C538209 C09.218.458.341.186|C10.228.140.252.190|C10.228.140.380|C10.597.350.090.500|C10.597.751.418.341.186|C11.510.245|C23.888.592.350.090.200|C23.888.592.763.393.341.186|F03.615.400 CEREBELLAR ATAXIA, CATARACT, DEAFNESS, AND DEMENTIA OR PSYCHOSIS|Cerebral Amyloid Angiopathy, Itm2b-Related, 2|DEMENTIA, FAMILIAL DANISH|Familial Danish dementia|FDD|Heredopathia ophthalmootoencephalica|HOOE Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Dementia, Multi-Infarct MESH:D015161 DO:DOID:8725 Loss of higher cortical functions with retained awareness due to multiple cortical or subcortical CEREBRAL INFARCTION. Memory, judgment, attention span, and impulse control are often impaired, and may be accompanied by PSEUDOBULBAR PALSY; HEMIPARESIS; reflex abnormalities, and other signs of localized neurologic dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p1060) MESH:D002544|MESH:D015140 C10.228.140.300.150.477.200.199|C10.228.140.300.400.408|C10.228.140.300.775.200.200.199|C10.228.140.380.230.250|C14.907.253.092.477.200.199|C14.907.253.855.200.200.199|C23.550.513.355.250.200.199|C23.550.717.489.250.200.199|F03.615.400.350.400 C10.228.140.300.150.477.200|C10.228.140.300.400|C10.228.140.300.775.200.200|C10.228.140.380.230|C14.907.253.092.477.200|C14.907.253.855.200.200|C23.550.513.355.250.200|C23.550.717.489.250.200|F03.615.400.350 Dementia, Lacunar|Dementia, Multiinfarct|Dementia Multi Infarct|Dementia Multi-Infarct|Dementia, Multi Infarct|Dementia Multi-Infarcts|Dementias, Lacunar|Dementias, Multiinfarct|Dementias, Multi-Infarct|Lacunar Dementia|Lacunar Dementias|Multiinfarct Dementia|Multi Infarct Dementia|Multi-Infarct Dementia|Multi-Infarct, Dementia|Multiinfarct Dementias|Multi-Infarct Dementias|Multi-Infarcts, Dementia Cardiovascular disease|Mental disorder|Nervous system disease|Pathology (process) Dementia-Parkinsonism With Non-Alzheimer Amyloid Plaques MESH:C565115 MESH:D003704|MESH:D020734|MESH:D058225 C10.228.140.079.862/C565115|C10.228.140.380/C565115|C10.228.662.600/C565115|C23.300.821/C565115|F03.615.400/C565115 C10.228.140.079.862|C10.228.140.380|C10.228.662.600|C23.300.821|F03.615.400 Mental disorder|Nervous system disease|Pathology (anatomical condition) Dementia, Vascular MESH:D015140 DO:DOID:8725 An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44) MESH:D002537|MESH:D002561|MESH:D003704|MESH:D056784 C10.228.140.300.400|C10.228.140.300.510.800.500|C10.228.140.380.230|C10.228.140.695.500|C14.907.137.126.372.500|C14.907.253.560.350.500|F03.615.400.350 C10.228.140.300|C10.228.140.300.510.800|C10.228.140.380|C10.228.140.695|C14.907.137.126.372|C14.907.253.560.350|F03.615.400 Acute Onset Vascular Dementia|Arteriosclerotic Dementia|Arteriosclerotic Dementias|Arteriosclerotic Encephalopathies, Subcortical|Arteriosclerotic Encephalopathy, Subcortical|Binswanger Disease|Binswanger Encephalopathy|Binswanger's Disease|Binswangers Disease|Binswanger's Encephalopathy|Chronic Progressive Subcortical Encephalopathy|Dementia, Arteriosclerotic|Dementias, Arteriosclerotic|Dementias, Subcortical Vascular|Dementia, Subcortical Vascular|Dementias, Vascular|Disease, Binswanger|Disease, Binswanger's|Encephalopathies, Subcortical Arteriosclerotic|Encephalopathy, Binswanger|Encephalopathy, Binswanger's|Encephalopathy, Binswangers|Encephalopathy, Chronic Progressive Subcortical|Encephalopathy, Subcortical Arteriosclerotic|Encephalopathy, Subcortical, Chronic Progressive|Leukoencephalopathies, Subcortical|Leukoencephalopathy, Subcortical|Subcortical Arteriosclerotic Encephalopathies|Subcortical Arteriosclerotic Encephalopathy|Subcortical Encephalopathy, Chronic Progressive|Subcortical Leukoencephalopathies|Subcortical Leukoencephalopathy|Subcortical Vascular Dementia|Subcortical Vascular Dementias|Vascular Dementia|Vascular Dementia, Acute Onset|Vascular Dementias|Vascular Dementias, Subcortical|Vascular Dementia, Subcortical Cardiovascular disease|Mental disorder|Nervous system disease Demyelinating Autoimmune Diseases, CNS MESH:D020278 Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens. MESH:D003711|MESH:D020274|MESH:D056784 C10.114.375|C10.228.140.695.562|C10.314.350|C20.111.258.250 C10.114|C10.228.140.695|C10.314|C20.111.258 Autoimmune Demyelinating Diseases, Central Nervous System|Autoimmune Demyelinating Diseases, Cerebral|Autoimmune Demyelinating Diseases, CNS|Autoimmune Demyelinating Diseases, Spinal Cord|Autoimmune Demyelinating Disorders, CNS|Autoimmune Diseases, Demyelinating, Brain|Brain Autoimmune Demyelinating Diseases|Cerebral Demyelinating Diseases, Autoimmune|CNS Autoimmune Demyelinating Disorders|CNS Demyelinating Autoimmune Diseases|Demyelinating Autoimmune Diseases, Brain|Demyelinating Autoimmune Diseases, Central Nervous System|Demyelinating Autoimmune Diseases, Cerebral|Demyelinating Autoimmune Diseases, Spinal Cord|Demyelinating Autoimmune Disorders, CNS|Demyelinating Disease, Autoimmune, CNS|Spinal Cord Demyelinating Autoimmune Diseases Immune system disease|Nervous system disease Demyelinating Diseases MESH:D003711 DO:DOID:3213 Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system. MESH:D009422 C10.314 C10 Clinically Isolated CNS Demyelinating Syndrome|Clinically Isolated Syndrome, CNS Demyelinating|Demyelinating Disease|Demyelinating Disorder|Demyelinating Disorders|Demyelination|Demyelinations Nervous system disease Dendritic Cell Sarcoma, Follicular MESH:D054740 DO:DOID:6262 Sarcoma of FOLLICULAR DENDRITIC CELLS most often found in the lymph nodes. This rare neoplasm occurs predominately in adults. MESH:D015620 C04.557.227.190|C15.604.250.390.190 C04.557.227|C15.604.250.390 Follicular Dendritic Cell Sarcoma Cancer|Lymphatic disease Dendritic Cell Sarcoma, Interdigitating MESH:D054739 DO:DOID:7848 A rare sarcoma of INTERDIGITATING CELLS found in the lymph nodes and non-lymphoid organs. They exhibit a variable immunophenotype and lack Birbeck granules. MESH:D015620 C04.557.227.199|C15.604.250.390.199 C04.557.227|C15.604.250.390 Interdigitating Cell Sarcoma|Interdigitating Cell Sarcomas|Interdigitating Dendritic Cell Sarcoma|Sarcoma, Interdigitating Cell|Sarcomas, Interdigitating Cell Cancer|Lymphatic disease Dengue MESH:D003715 DO:DOID:12205|OMIM:614371 An acute febrile disease transmitted by the bite of AEDES mosquitoes infected with DENGUE VIRUS. It is self-limiting and characterized by fever, myalgia, headache, and rash. SEVERE DENGUE is a more virulent form of dengue. MESH:D001102|MESH:D006482|MESH:D018177 C01.920.500.270|C01.925.081.270|C01.925.782.350.250.214|C01.925.782.417.214 C01.920.500|C01.925.081|C01.925.782.350.250|C01.925.782.417 Breakbone Fever|Break Bone Fever|Break-Bone Fever|Classical Dengue|Classical Dengue Fever|Classical Dengue Fevers|Classical Dengues|Dengue, Classical|Dengue Fever|Dengue Fever, Classical|DENGUE FEVER, PROTECTION AGAINST, INCLUDED|DENGUE FEVER, SUSCEPTIBILITY TO, INCLUDED|DENGUE HEMORRHAGIC FEVER, SUSCEPTIBILITY TO, INCLUDED|DENGUE SHOCK SYNDROME, SUSCEPTIBILITY TO, INCLUDED|DENGUE VIRUS, SUSCEPTIBILITY TO|Fever, Breakbone|Fever, Break-Bone|Fever, Dengue Viral disease Dennis Fairhurst Moore syndrome MESH:C538210 MESH:D006210 C05.116.099.370.231.427/C538210|C05.660.207.231.427/C538210|C16.131.621.207.231.427/C538210 C05.116.099.370.231.427|C05.660.207.231.427|C16.131.621.207.231.427 Hallermam Streiff like syndrome Congenital abnormality|Musculoskeletal disease Dens in Dente MESH:D003719 Anomaly of the tooth, found chiefly in upper lateral incisors. It is characterized by invagination of the enamel at the incisal edge. MESH:D014071 C07.650.800.250|C07.793.700.250|C16.131.850.800.250 C07.650.800|C07.793.700|C16.131.850.800 Dens in Dentes|Dente, Dens in|Dentes, Dens in|in Dente, Dens|in Dentes, Dens Congenital abnormality|Mouth disease Dens in dente and palatal invaginations MESH:C538211 MESH:D003719 C07.650.800.250/C538211|C07.793.700.250/C538211|C16.131.850.800.250/C538211 C07.650.800.250|C07.793.700.250|C16.131.850.800.250 Congenital abnormality|Mouth disease Dental Calculus MESH:D003728 Abnormal concretion or calcified deposit that forms around the teeth or dental prostheses. MESH:D002137|MESH:D003741 C07.793.208.250|C23.300.175.350 C07.793.208|C23.300.175 Calculus, Dental|Tartar Mouth disease|Pathology (anatomical condition) Dental Caries MESH:D003731 DO:DOID:216 Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. MESH:D017001 C07.793.720.210 C07.793.720 Caries, Dental|Carious Dentin|Carious Dentins|Carious Lesion|Carious Lesions|Cavities, Dental|Cavity, Dental|Decay, Dental|Dental Cavities|Dental Cavity|Dental Decay|Dental White Spot|Dental White Spots|Dentin, Carious|Dentins, Carious|Lesion, Carious|Lesions, Carious|Spot, Dental White|Spots, Dental White|White Spot, Dental|White Spots, Dental Mouth disease Dental Deposits MESH:D003741 Accumulations of microflora that lead to pathological plaque and calculus which cause PERIODONTAL DISEASES. It can be considered a type of BIOFILMS. It is subtly distinguished from the protective DENTAL PELLICLE. MESH:D014076 C07.793.208 C07.793 Dental Deposit|Deposit, Dental|Deposits, Dental|Materia Alba Mouth disease Dental Enamel Hypomineralization MESH:D000094603 Reduced mineralization disorder of the DENTAL ENAMEL during development resulting in qualitative defects, e.g., discolored or chalky (soft) enamel. MESH:D000094602 C07.650.800.295.500|C07.793.700.295.500|C16.131.850.800.295.500 C07.650.800.295|C07.793.700.295|C16.131.850.800.295 Dental Enamel Hypomineralizations|Dental Hypomineralization|Dental Hypomineralizations|Enamel Hypomineralization, Dental|Hypomineralization, Dental|Hypomineralization, Dental Enamel|Hypomineralization, Tooth|Tooth Hypomineralization|Tooth Hypomineralizations Congenital abnormality|Mouth disease Dental Enamel Hypoplasia MESH:D003744 DO:DOID:693 An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors. MESH:D000094602 C07.650.800.295.625|C07.793.700.295.625|C16.131.850.800.295.625 C07.650.800.295|C07.793.700.295|C16.131.850.800.295 Agenesis, Enamel|Enamel Ageneses|Enamel Agenesis|Enamel Hypoplasia|Enamel Hypoplasia, Dental|Enamel Hypoplasias|Enamel, Hypoplastic|Hypoplasia, Dental Enamel|Hypoplasia, Enamel|Hypoplastic Enamel Congenital abnormality|Mouth disease Dental Fissures MESH:D003750 Naturally occurring deep grooves or clefts in the surface of teeth equivalent to class 1 cavities in Black's classification of dental caries. MESH:D014071 C07.793.700.255 C07.793.700 Dental Fissure|Fissure, Dental|Fissures, Dental Mouth disease Dental Fistula MESH:D003751 An abnormal passage in the oral cavity on the gingiva. MESH:D016155 C07.465.614.187|C23.300.575.500.275 C07.465.614|C23.300.575.500 Dental Fistulas|Fistula, Dental|Fistula, Gingival|Fistulas, Dental|Fistulas, Gingival|Gingival Fistula|Gingival Fistulas Mouth disease|Pathology (anatomical condition) Dental Leakage MESH:D003763 The seepage of fluids, debris, and micro-organisms between the walls of a prepared dental cavity and the restoration. MESH:D014076 C07.793.221 C07.793 Dental Leakages|Leakage, Dental|Leakages, Dental Mouth disease Dental Occlusion, Traumatic MESH:D003769 An occlusion resulting in overstrain and injury to teeth, periodontal tissue, or other oral structures. MESH:D008310 C07.793.494.293 C07.793.494 Dental Occlusions, Traumatic|Occlusion, Dental, Traumatic|Occlusions, Traumatic Dental|Occlusion, Traumatic Dental|Traumatic Dental Occlusion|Traumatic Dental Occlusions Mouth disease Dental Plaque MESH:D003773 A film that attaches to teeth, often causing DENTAL CARIES and GINGIVITIS. It is composed of MUCINS, secreted from salivary glands, and microorganisms. MESH:D003741 C07.793.208.377 C07.793.208 Plaque, Dental Mouth disease Dental Pulp Calcification MESH:D003784 DO:DOID:5608 CALCINOSIS of the DENTAL PULP or ROOT CANAL. MESH:D003788 C07.793.237.252 C07.793.237 Anomalous Dysplasia of Dentin|Calcification, Dental Pulp|Calcifications, Dental Pulp|Coronal Dentin Dysplasia|Coronal Dentin Dysplasias|Dental Pulp Calcifications|Dental Pulp Stone|Dental Pulp Stones|Denticle|Denticles|Dentin Anomalous Dysplasia|Dentin Anomalous Dysplasias|Dentin Dyspalsia, Shields Type 2|Dentin Dysplasia, Coronal|Dentin Dysplasias, Coronal|Dentin Dysplasia, Shields Type II|Dentin Dysplasia, Type II|Dysplasia, Coronal Dentin|Dysplasia, Pulpal|Dysplasias, Coronal Dentin|Dysplasias, Pulpal|Pulpal Dysplasia|Pulpal Dysplasias|Pulp Calcification, Dental|Pulp Calcifications, Dental|Pulp Stone|Pulp Stone, Dental|Pulp Stones|Pulp Stones, Dental|Stone, Dental Pulp|Stone, Pulp|Stones, Dental Pulp|Stones, Pulp Mouth disease Dental Pulp Diseases MESH:D003788 DO:DOID:5330 Endodontic diseases of the DENTAL PULP inside the tooth, which is distinguished from PERIAPICAL DISEASES of the tissue surrounding the root. MESH:D014076 C07.793.237 C07.793 Dental Pulp Disease|Disease, Dental Pulp|Diseases, Dental Pulp|Pulp Disease, Dental|Pulp Diseases, Dental Mouth disease Dental Pulp Exposure MESH:D003789 The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment. MESH:D003788 C07.793.237.283 C07.793.237 Exposure, Dental Pulp|Pulp Exposure, Dental Mouth disease Dental Pulp Necrosis MESH:D003790 DO:DOID:11623 Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification. MESH:D003788|MESH:D009336 C07.793.237.315|C23.550.717.182 C07.793.237|C23.550.717 Autolyses, Dental Pulp|Autolysis, Dental Pulp|Dental Pulp Autolyses|Dental Pulp Autolysis|Dental Pulp Gangrene|Dental Pulp Necroses|Gangrene, Dental Pulp|Gangrene, Pulp|Gangrenes, Pulp|Mummification, Pulp|Mummifications, Pulp|Necroses, Dental Pulp|Necroses, Pulp|Necrosis, Dental Pulp|Necrosis, Pulp|Pulp Autolyses, Dental|Pulp Autolysis, Dental|Pulp Gangrene|Pulp Gangrene, Dental|Pulp Gangrenes|Pulp Mummification|Pulp Mummifications|Pulp Necroses|Pulp Necroses, Dental|Pulp Necrosis|Pulp Necrosis, Dental Mouth disease|Pathology (process) Dent Disease MESH:D057973 DO:DOID:0050699 X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene. MESH:D015499|MESH:D040181 C12.050.351.968.419.815.364|C12.200.777.419.815.364|C12.950.419.815.364|C16.320.322.100|C16.320.831.271 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.322|C16.320.831 Dent's Disease|Dents Disease|Disease, Dent|Disease, Dent's|Disease, Dents Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Dent disease 1 MESH:C538212 DO:DOID:0050699|OMIM:300009 MESH:D040181|MESH:D053040 C12.050.351.968.419.600/C538212|C12.050.351.968.967.249/C538212|C12.200.777.419.600/C538212|C12.200.777.967.249/C538212|C12.950.419.600/C538212|C12.950.967.249/C538212|C16.320.322/C538212 C12.050.351.968.419.600|C12.050.351.968.967.249|C12.200.777.419.600|C12.200.777.967.249|C12.950.419.600|C12.950.967.249|C16.320.322 DENT1|Nephrolithiasis 2|Nephrolithiasis, hypercalciuria, x-linked|Nephrolithiasis, Hypercalciuric, X-Linked|Nphl2|Urolithiasis, Hypercalciuric, X-Linked Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Dent Disease 2 MESH:C564487 DO:DOID:0050699|OMIM:300555 MESH:D040181|MESH:D053040 C12.050.351.968.419.600/C564487|C12.050.351.968.967.249/C564487|C12.200.777.419.600/C564487|C12.200.777.967.249/C564487|C12.950.419.600/C564487|C12.950.967.249/C564487|C16.320.322/C564487 C12.050.351.968.419.600|C12.050.351.968.967.249|C12.200.777.419.600|C12.200.777.967.249|C12.950.419.600|C12.950.967.249|C16.320.322 DENT2 Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Dentigerous Cyst MESH:D003803 Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation. MESH:D009807 C04.182.089.530.690.310|C05.500.470.690.310|C07.320.450.670.275 C04.182.089.530.690|C05.500.470.690|C07.320.450.670 Cyst, Dentigerous|Cysts, Dentigerous|Dentigerous Cysts Cancer|Mouth disease|Musculoskeletal disease Dentin Dysplasia MESH:D003805 DO:DOID:701 An apparently hereditary disorder of dentin formation, marked by a normal appearance of coronal dentin associated with pulpal obliteration, faulty root formation, and a tendency for peripheral lesions without obvious cause. (From Dorland, 27th ed) MESH:D014071 C07.650.800.260|C07.793.700.260|C16.131.850.800.260 C07.650.800|C07.793.700|C16.131.850.800 Dentin Dysplasias|Dysplasia, Dentin|Dysplasias, Dentin Congenital abnormality|Mouth disease Dentin dysplasia sclerotic bones MESH:C538213 MESH:D003805 C07.650.800.260/C538213|C07.793.700.260/C538213|C16.131.850.800.260/C538213 C07.650.800.260|C07.793.700.260|C16.131.850.800.260 Dentin Dysplasia with Sclerotic Bones|Sclerotic bones with dentin dysplasia Congenital abnormality|Mouth disease Dentin dysplasia, type 1 MESH:C538215 OMIM:125400 MESH:D003805 C07.650.800.260/C538215|C07.793.700.260/C538215|C16.131.850.800.260/C538215 C07.650.800.260|C07.793.700.260|C16.131.850.800.260 DENTIN DYSPLASIA, SHIELDS TYPE I|Dentin Dysplasia, Type I|DTDP1|Radicular dentin dysplasia|RADICULAR DENTIN DYSPLASIA DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH, INCLUDED|Rootless teeth Congenital abnormality|Mouth disease DENTIN DYSPLASIA, TYPE II OMIM:125420 DO:DOID:701 MESH:D003784|MESH:D003805 C07.650.800.260/125420|C07.793.237.252/125420|C07.793.700.260/125420|C16.131.850.800.260/125420 C07.650.800.260|C07.793.237.252|C07.793.700.260|C16.131.850.800.260 ANOMALOUS DYSPLASIA OF DENTIN|CORONAL DENTIN DYSPLASIA|DENTIN DYSPLASIA, SHIELDS TYPE II|DTDP2|PULPAL DYSPLASIA|PULP STONES Congenital abnormality|Mouth disease Dentinogenesis Imperfecta MESH:D003811 DO:DOID:4154|OMIM:125490 An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated. MESH:D014071 C07.650.800.270|C07.793.700.270|C16.131.850.800.270 C07.650.800|C07.793.700|C16.131.850.800 Capdepont Teeth|Dentinogenesis Imperfecta 1|Dentinogenesis Imperfecta, Shields Type 2|Dentinogenesis Imperfecta, Shields Type II|Dentinogenesis Imperfecta without Osteogenesis Imperfecta|Dentin, Opalescent|DGI1|DGI-II|Hereditary Opalescent Dentin|Opalescent Dentin|Opalescent Dentin, Hereditary|Opalescent Teeth without Osteogenesis Imperfecta|Teeth, Capdepont Congenital abnormality|Mouth disease Dentinogenesis imperfecta, shields type 3 MESH:C538216 OMIM:125500 MESH:D003811 C07.650.800.270/C538216|C07.793.700.270/C538216|C16.131.850.800.270/C538216 C07.650.800.270|C07.793.700.270|C16.131.850.800.270 Brandywine type dentinogenesis imperfecta|Dentinogenesis Imperfecta, Shields Type III|DGI-III Congenital abnormality|Mouth disease Dentin, Secondary MESH:D003809 Dentin formed by normal pulp after completion of root end formation. MESH:D003788 C07.793.237.378 C07.793.237 Dentins, Secondary|Secondary Dentin|Secondary Dentins Mouth disease Dentin Sensitivity MESH:D003807 DO:DOID:698 Pain associated with exposed DENTIN surfaces of the teeth. MESH:D014076 C07.793.266 C07.793 Dentine Hypersensitivities|Dentine Hypersensitivity|Dentine Sensitivities|Dentine Sensitivity|Dentin Hypersensitivities|Dentin Hypersensitivity|Dentin Sensitivities|Hypersensitivities, Dentin|Hypersensitivities, Dentine|Hypersensitivity, Dentin|Hypersensitivity, Dentine|Sensitivities, Dentin|Sensitivities, Dentine|Sensitivities, Tooth|Sensitivity, Dentin|Sensitivity, Dentine|Sensitivity, Tooth|Tooth Sensitivities|Tooth Sensitivity Mouth disease Dentofacial Deformities MESH:D063169 An abnormality of the jaws or teeth affecting the contour of the face. Such abnormality could be acquired or congenital. MESH:D019767 C05.660.207.540.229|C07.650.500.229|C16.131.621.207.540.315|C16.131.850.500.229 C05.660.207.540|C07.650.500|C16.131.621.207.540|C16.131.850.500 Abnormalities, Dentofacial|Abnormality, Dentofacial|Deformities, Dentofacial|Deformity, Dentofacial|Dentofacial Abnormalities|Dentofacial Abnormality|Dentofacial Deformity|Dentofacial Dyplasia|Dentofacial Dyplasias|Dyplasia, Dentofacial|Dyplasias, Dentofacial Congenital abnormality|Mouth disease|Musculoskeletal disease Denys-Drash Syndrome MESH:D030321 DO:DOID:3764|OMIM:194080 A disorder of sex development characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; and WILMS TUMOR. It is caused by a mutation in the Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11. MESH:D009396|MESH:D058490 C04.557.435.595.220|C04.588.945.947.535.585.220|C04.700.900.220|C12.050.351.875.253.096.562|C12.050.351.937.820.535.585.220|C12.050.351.968.419.473.585.220|C12.200.706.316.096.562|C12.200.758.820.750.585.220|C12.200.777.419.473.585.220|C12.800.316.096.562|C12.900.820.535.585.220|C12.950.419.473.585.220|C12.950.983.535.585.220|C16.131.939.316.096.562|C16.320.700.900.220|C19.391.119.096.562 C04.557.435.595|C04.588.945.947.535.585|C04.700.900|C12.050.351.875.253.096|C12.050.351.937.820.535.585|C12.050.351.968.419.473.585|C12.200.706.316.096|C12.200.758.820.750.585|C12.200.777.419.473.585|C12.800.316.096|C12.900.820.535.585|C12.950.419.473.585|C12.950.983.535.585|C16.131.939.316.096|C16.320.700.900|C19.391.119.096 DDS|Denys Drash Syndrome|Drash Syndrome|Nephropathy, Wilms Tumor, and Genital Anomalies|Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor|Syndrome, Denys-Drash|Syndrome, Drash|Wilms Tumor and Pseudohermaphroditism|WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM Cancer|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Deoxyguanosine Kinase Deficiency MESH:C580039 DO:DOID:0080121 MESH:D028361 C18.452.660/C580039 C18.452.660 Dguok-Related Mitochondrial Dna Depletion Syndrome|Hepatocerebral Mitochondrial Dna Depletion Syndrome|Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Metabolic disease Deoxyribose-5-Phosphate Aldolase Deficiency MESH:C565112 MESH:D008661 C16.320.565/C565112|C18.452.648/C565112 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Dependent Personality Disorder MESH:D003859 DO:DOID:10931 A personality disorder characterized by a pervasive and excessive need to be taken care of that leads to submissive and clinging behavior and fears of separation, beginning by early adulthood and present in a variety of contexts. (From DSM-IV, 1994) MESH:D010554 F03.675.200 F03.675 Dependent Personality Disorders|Disorder, Dependent Personality|Passive Dependent Personality|Passive-Dependent Personality|Personality Disorder, Dependent|Personality, Passive-Dependent Mental disorder Depression, Postpartum MESH:D019052 DO:DOID:9478 Depression in POSTPARTUM WOMEN, usually within four weeks after giving birth (PARTURITION). The degree of depression ranges from mild transient depression to neurotic or psychotic depressive disorders. (From DSM-IV, p386) MESH:D003866|MESH:D011644 C12.050.703.844.253|F03.600.300.350 C12.050.703.844|F03.600.300 Depression, Postnatal|Depression, Post-Natal|Depression, Post-Partum|Dysphoria, Postnatal|Dysphoria, Post-Natal|Dysphoria, Postpartum|Dysphoria, Post-Partum|Postnatal Depression|Post Natal Depression|Post-Natal Depression|Postnatal Dysphoria|Post Natal Dysphoria|Post-Natal Dysphoria|Postpartum Depression|Post Partum Depression|Post-Partum Depression|Postpartum Dysphoria|Post Partum Dysphoria|Post-Partum Dysphoria Mental disorder|Pregnancy complication Depressive Disorder MESH:D003866 DO:DOID:1595|DO:DOID:4964 An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent. MESH:D019964 F03.600.300 F03.600 Depression, Endogenous|Depression, Neurotic|Depressions, Endogenous|Depressions, Neurotic|Depressions, Unipolar|Depression, Unipolar|Depressive Disorders|Depressive Neuroses|Depressive Neurosis|Depressive Syndrome|Depressive Syndromes|Disorder, Depressive|Disorders, Depressive|Endogenous Depression|Endogenous Depressions|Melancholia|Melancholias|Neuroses, Depressive|Neurosis, Depressive|Neurotic Depression|Neurotic Depressions|Syndrome, Depressive|Syndromes, Depressive|Unipolar Depression|Unipolar Depressions Mental disorder Depressive Disorder, Major MESH:D003865 OMIM:608516 Disorder in which five (or more) of the following symptoms have been present during the same 2-week period and represent a change from previous functioning; at least one of the symptoms is either (1) depressed mood or (2) loss of interest or pleasure. Symptoms include: depressed mood most of the day, nearly every daily; markedly diminished interest or pleasure in activities most of the day, nearly every day; significant weight loss when not dieting or weight gain; Insomnia or hypersomnia nearly every day; psychomotor agitation or retardation nearly every day; fatigue or loss of energy nearly every day; feelings of worthlessness or excessive or inappropriate guilt; diminished ability to think or concentrate, or indecisiveness, nearly every day; or recurrent thoughts of death, recurrent suicidal ideation without a specific plan, or a suicide attempt. (DSM-5) MESH:D003866 F03.600.300.375 F03.600.300 Depression, Involutional|Depressive Disorders, Major|Involutional Depression|Involutional Melancholia|Involutional Paraphrenia|Involutional Paraphrenias|Involutional Psychoses|Involutional Psychosis|Major Depressive Disorder|Major Depressive Disorders|MDD|Melancholia, Involutional|Paraphrenia, Involutional|Paraphrenias, Involutional|Psychoses, Involutional|Psychosis, Involutional|SAD, INCLUDED|UNIPOLAR DEPRESSION SEASONAL AFFECTIVE DISORDER, INCLUDED Mental disorder Depressive Disorder, Treatment-Resistant MESH:D061218 Failure to respond to two or more trials of antidepressant monotherapy or failure to respond to four or more trials of different antidepressant therapies. (Campbell's Psychiatric Dictionary, 9th ed.) MESH:D003866 F03.600.300.388 F03.600.300 Depression, Refractory|Depressions, Refractory|Depressions, Therapy-Resistant|Depressions, Treatment Resistant|Depression, Therapy-Resistant|Depression, Treatment Resistant|Depressive Disorders, Treatment-Resistant|Depressive Disorder, Treatment Resistant|Disorders, Treatment-Resistant Depressive|Disorder, Treatment-Resistant Depressive|Refractory Depression|Refractory Depressions|Resistant Depressions, Treatment|Resistant Depression, Treatment|Therapy Resistant Depression|Therapy-Resistant Depression|Therapy-Resistant Depressions|Treatment Resistant Depression|Treatment Resistant Depressions|Treatment-Resistant Depressive Disorder|Treatment-Resistant Depressive Disorders Mental disorder De Quervain Disease MESH:D053684 DO:DOID:14107 Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS. MESH:D053682 C05.651.869.816.200 C05.651.869.816 De Quervain's Disease|De Quervains Disease|De Quervain Stenosing Tenosynovitis|Disease, De Quervain|Stenosing Tenosynovitis, De Quervain Musculoskeletal disease Der Kaloustian Mcintosh Silver syndrome MESH:C538217 MESH:D002658|MESH:D009123|MESH:D013580|MESH:D019066 C05.116.099.370.894/C538217|C05.660.906/C538217|C10.597.613.575/C538217|C16.131.621.906/C538217|C23.550.291.812/C538217|C23.888.592.608.575/C538217|F03.625.421/C538217 C05.116.099.370.894|C05.660.906|C10.597.613.575|C16.131.621.906|C23.550.291.812|C23.888.592.608.575|F03.625.421 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Dermal Ridges, Nelson Syndrome MESH:C565110 MESH:D012868 C16.131.831/C565110|C17.800.804/C565110 C16.131.831|C17.800.804 Congenital abnormality|Skin disease Dermal Ridges, Patternless MESH:C565109 MESH:D012868 C16.131.831/C565109|C17.800.804/C565109 C16.131.831|C17.800.804 Congenital abnormality|Skin disease Dermatitis MESH:D003872 DO:DOID:2723 Any inflammation of the skin. MESH:D012871 C17.800.174 C17.800 Dermatitides Skin disease Dermatitis, Allergic Contact MESH:D017449 DO:DOID:3042 A contact dermatitis due to allergic sensitization to various substances. These substances subsequently produce inflammatory reactions in the skin of those who have acquired hypersensitivity to them as a result of prior exposure. MESH:D003877|MESH:D006968 C17.800.174.255.100|C17.800.815.255.100|C20.543.418.150 C17.800.174.255|C17.800.815.255|C20.543.418 Allergic Contact Dermatitides|Allergic Contact Dermatitis|Allergic Eczematous Dermatitides|Allergic Eczematous Dermatitis|Contact Dermatitides, Allergic|Contact Dermatitis, Allergic|Dermatitides, Allergic Contact|Dermatitides, Allergic Eczematous|Dermatitis, Allergic Eczematous|Dermatitis, Contact, Allergic|Eczematous Dermatitides, Allergic|Eczematous Dermatitis, Allergic Immune system disease|Skin disease Dermatitis, Atopic MESH:D003876 DO:DOID:3310 A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. MESH:D003872|MESH:D006969|MESH:D012873|MESH:D017443 C16.320.850.210|C17.800.174.193|C17.800.815.193|C17.800.827.210|C20.543.480.343 C16.320.850|C17.800.174|C17.800.815|C17.800.827|C20.543.480 Atopic Dermatitides|Atopic Dermatitis|Atopic Eczema|Atopic Neurodermatitides|Atopic Neurodermatitis|Dermatitides, Atopic|Disseminated Neurodermatitides|Disseminated Neurodermatitis|Eczema, Atopic|Eczema, Infantile|Infantile Eczema|Neurodermatitides, Atopic|Neurodermatitides, Disseminated|Neurodermatitis, Atopic|Neurodermatitis, Disseminated Genetic disease (inborn)|Immune system disease|Skin disease Dermatitis, Atopic, 1 MESH:C566404 OMIM:603165 MESH:D003876 C16.320.850.210/C566404|C17.800.174.193/C566404|C17.800.815.193/C566404|C17.800.827.210/C566404|C20.543.480.343/C566404 C16.320.850.210|C17.800.174.193|C17.800.815.193|C17.800.827.210|C20.543.480.343 ATOD|ATOD1, INCLUDED|DERMATITIS, ATOPIC|ECZEMA, ATOPIC DERMATITIS, ATOPIC, 1, INCLUDED Genetic disease (inborn)|Immune system disease|Skin disease Dermatitis, Atopic, 2 MESH:C565293 OMIM:605803 MESH:D003876 C16.320.850.210/C565293|C17.800.174.193/C565293|C17.800.815.193/C565293|C17.800.827.210/C565293|C20.543.480.343/C565293 C16.320.850.210|C17.800.174.193|C17.800.815.193|C17.800.827.210|C20.543.480.343 ATOD2 Genetic disease (inborn)|Immune system disease|Skin disease Dermatitis, Atopic, 3 MESH:C565292 OMIM:605804 MESH:D001249|MESH:D003876 C08.127.108/C565292|C08.381.495.108/C565292|C08.674.095/C565292|C16.320.850.210/C565292|C17.800.174.193/C565292|C17.800.815.193/C565292|C17.800.827.210/C565292|C20.543.480.343/C565292|C20.543.480.680.095/C565292 C08.127.108|C08.381.495.108|C08.674.095|C16.320.850.210|C17.800.174.193|C17.800.815.193|C17.800.827.210|C20.543.480.343|C20.543.480.680.095 ATOD3|Dermatitis, Atopic, with Asthma Genetic disease (inborn)|Immune system disease|Respiratory tract disease|Skin disease Dermatitis, Atopic, 4 MESH:C565291 OMIM:605805 MESH:D003876 C16.320.850.210/C565291|C17.800.174.193/C565291|C17.800.815.193/C565291|C17.800.827.210/C565291|C20.543.480.343/C565291 C16.320.850.210|C17.800.174.193|C17.800.815.193|C17.800.827.210|C20.543.480.343 ATOD4 Genetic disease (inborn)|Immune system disease|Skin disease Dermatitis, Atopic, 5 MESH:C565280 OMIM:605844 MESH:D003876 C16.320.850.210/C565280|C17.800.174.193/C565280|C17.800.815.193/C565280|C17.800.827.210/C565280|C20.543.480.343/C565280 C16.320.850.210|C17.800.174.193|C17.800.815.193|C17.800.827.210|C20.543.480.343 ATOD5 Genetic disease (inborn)|Immune system disease|Skin disease Dermatitis, Atopic, 6 MESH:C565279 OMIM:605845 MESH:D003876 C16.320.850.210/C565279|C17.800.174.193/C565279|C17.800.815.193/C565279|C17.800.827.210/C565279|C20.543.480.343/C565279 C16.320.850.210|C17.800.174.193|C17.800.815.193|C17.800.827.210|C20.543.480.343 ATOD6 Genetic disease (inborn)|Immune system disease|Skin disease Dermatitis, Atopic, 7 MESH:C567796 OMIM:613064 MESH:D003876 C16.320.850.210/C567796|C17.800.174.193/C567796|C17.800.815.193/C567796|C17.800.827.210/C567796|C20.543.480.343/C567796 C16.320.850.210|C17.800.174.193|C17.800.815.193|C17.800.827.210|C20.543.480.343 ATOD7 Genetic disease (inborn)|Immune system disease|Skin disease Dermatitis, Contact MESH:D003877 DO:DOID:2773 A type of acute or chronic skin reaction in which sensitivity is manifested by reactivity to materials or substances coming in contact with the skin. It may involve allergic or non-allergic mechanisms. MESH:D003872|MESH:D017443 C17.800.174.255|C17.800.815.255 C17.800.174|C17.800.815 Contact Dermatitides|Contact Dermatitis|Contact Eczema|Contact Hypersensitivities|Contact Hypersensitivity|Contact Sensitivities|Contact Sensitivity|Dermatitides, Contact|Dermatitis Venenata|Eczema, Contact|Hypersensitivities, Contact|Hypersensitivity, Contact|Sensitivities, Contact|Sensitivity, Contact Skin disease Dermatitis, Exfoliative MESH:D003873 The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed) MESH:D003872|MESH:D017443 C17.800.174.318|C17.800.815.318 C17.800.174|C17.800.815 Dermatitis Exfoliativa|Dermatitis Exfoliative|Dermatitis Exfoliative Generalised|Dermatitis Exfoliative Generaliseds|Dermatitis Exfoliative Generalized|Dermatitis Exfoliatives|Erythroderma|Erythrodermas|Exfoliative Dermatitides|Exfoliative Dermatitis|Exfoliative, Dermatitis|Exfoliative Generalised, Dermatitis|Exfoliative Generalized, Dermatitis|Exfoliatives, Dermatitis|Generalised, Dermatitis Exfoliative Skin disease Dermatitis Herpetiformis MESH:D003874 DO:DOID:8505 Rare, chronic, papulo-vesicular disease characterized by an intensely pruritic eruption consisting of various combinations of symmetrical, erythematous, papular, vesicular, or bullous lesions. The disease is strongly associated with the presence of HLA-B8 and HLA-DR3 antigens. A variety of different autoantibodies has been detected in small numbers in patients with dermatitis herpetiformis. MESH:D001327|MESH:D003872|MESH:D012872 C17.800.174.360|C17.800.865.360|C20.111.318 C17.800.174|C17.800.865|C20.111 Disease, Duhring|Disease, Duhring's|Duhring Disease|Duhring's Disease|Duhrings Disease Immune system disease|Skin disease Dermatitis herpetiformis, familial MESH:C538218 MESH:D003874 C17.800.174.360/C538218|C17.800.865.360/C538218|C20.111.318/C538218 C17.800.174.360|C17.800.865.360|C20.111.318 Immune system disease|Skin disease Dermatitis, Irritant MESH:D017453 DO:DOID:2772 A non-allergic contact dermatitis caused by prolonged exposure to irritants and not explained by delayed hypersensitivity mechanisms. MESH:D003877 C17.800.174.255.400|C17.800.815.255.400 C17.800.174.255|C17.800.815.255 Dermatitides, Irritant|Dermatitides, Primary Irritant|Dermatitis, Primary Irritant|Irritant Dermatitides|Irritant Dermatitides, Primary|Irritant Dermatitis|Irritant Dermatitis, Primary|Primary Irritant Dermatitides|Primary Irritant Dermatitis Skin disease Dermatitis, Occupational MESH:D009783 DO:DOID:4404 A recurrent contact dermatitis caused by substances found in the work place. MESH:D003877|MESH:D009784 C17.800.174.255.700|C17.800.815.255.700|C24.270 C17.800.174.255|C17.800.815.255|C24 Dermatitides, Occupational|Dermatoses, Industrial|Dermatosis, Industrial|Industrial Dermatoses|Industrial Dermatosis|Occupational Dermatitides|Occupational Dermatitis Occupational disease|Skin disease Dermatitis, Perioral MESH:D019557 A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed) MESH:D003872|MESH:D005148 C17.800.174.550|C17.800.271.250 C17.800.174|C17.800.271 Dermatitides, Periocular|Dermatitides, Perioral|Dermatitis, Periocular|Periocular Dermatitides|Periocular Dermatitis|Perioral Dermatitides|Perioral Dermatitis Skin disease Dermatitis, Photoallergic MESH:D017454 DO:DOID:3818 A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin. MESH:D010787|MESH:D017449 C17.800.174.255.100.600|C17.800.600.325|C17.800.815.255.100.600|C20.543.418.150.600 C17.800.174.255.100|C17.800.600|C17.800.815.255.100|C20.543.418.150 Contact Dermatitides, Photoallergic|Contact Dermatitides, Photosensitive|Contact Dermatitis, Photoallergic|Contact Dermatitis, Photosensitive|Dermatitides, Photoallergic|Dermatitides, Photoallergic Contact|Dermatitides, Photocontact|Dermatitides, Photosensitive Contact|Dermatitis, Contact, Photoallergic|Dermatitis, Contact, Photosensitive|Dermatitis, Photoallergic Contact|Dermatitis, Photocontact|Dermatitis, Photosensitive Contact|Photoallergic Contact Dermatitides|Photoallergic Contact Dermatitis|Photoallergic Dermatitides|Photoallergic Dermatitis|Photoallergies|Photoallergy|Photocontact Dermatitides|Photocontact Dermatitis|Photosensitive Contact Dermatitides|Photosensitive Contact Dermatitis Immune system disease|Skin disease Dermatitis, Phototoxic MESH:D017484 DO:DOID:4407 A nonimmunologic, chemically induced type of photosensitivity producing a sometimes vesiculating dermatitis. It results in hyperpigmentation and desquamation of the light-exposed areas of the skin. MESH:D010787|MESH:D017453 C17.800.174.255.400.225|C17.800.600.335|C17.800.815.255.400.225 C17.800.174.255.400|C17.800.600|C17.800.815.255.400 Contact Dermatitides, Phototoxic|Contact Dermatitis, Phototoxic|Dermatitides, Phototoxic|Dermatitides, Phototoxic Contact|Dermatitis, Contact, Phototoxic|Dermatitis, Phototoxic Contact|Phototoxic Contact Dermatitides|Phototoxic Contact Dermatitis|Phototoxic Dermatitides|Phototoxic Dermatitis|Phototoxicity Skin disease Dermatitis, Seborrheic MESH:D012628 DO:DOID:8741 A chronic inflammatory disease of the skin with unknown etiology. It is characterized by moderate ERYTHEMA, dry, moist, or greasy (SEBACEOUS GLAND) scaling and yellow crusted patches on various areas, especially the scalp, that exfoliate as dandruff. Seborrheic dermatitis is common in children and adolescents with HIV INFECTIONS. MESH:D003872|MESH:D012625|MESH:D017443|MESH:D017444 C17.800.174.580|C17.800.794.230|C17.800.815.580|C17.800.859.350 C17.800.174|C17.800.794|C17.800.815|C17.800.859 Dermatitides, Seborrheic|Dermatitis Seborrheica|Seborrhea|Seborrheic Dermatitides|Seborrheic Dermatitis Skin disease Dermatitis, Toxicodendron MESH:D011040 DO:DOID:3819 An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed) MESH:D017449 C17.800.174.255.100.700|C17.800.815.255.100.700|C20.543.418.150.700 C17.800.174.255.100|C17.800.815.255.100|C20.543.418.150 Dermatitides, Poison Ivy|Dermatitides, Rhus|Dermatitides, Toxicodendron|Dermatitis, Poison Ivy|Dermatitis, Rhus|Poison Ivy Dermatitides|Poison Ivy Dermatitis|Rhus Dermatitides|Rhus Dermatitis|Toxicodendron Dermatitides|Toxicodendron Dermatitis Immune system disease|Skin disease Dermatofibrosarcoma MESH:D018223 DO:DOID:3507|OMIM:607907 A sarcoma of the deep layers of the skin. The tumors are locally aggressive tends to recur but rarely metastatic. It can be classified into variants depending on the cell type tumors are derived from or by its characteristics: Pigmented variant from MELANIN-containing DERMAL DENDRITIC CELLS; Myxoid variant, myxoid STROMAL CELLS; Giant cell variant characterized by GIANT CELLS in the tumors; and Fibrosarcomatous variant chracterized by tumor areas histologically indistinguishable from FIBROSARCOMA. MESH:D005354 C04.557.450.565.590.350.320|C04.557.450.795.350.320 C04.557.450.565.590.350|C04.557.450.795.350 Bednar's Tumor|Bednars Tumor|Bednar Tumor|Cell Fibroblastoma, Giant|Cell Fibroblastomas, Giant|Darier Ferrand Tumor|Darier-Ferrand Tumor|Darier Hoffmann Tumor|Darier-Hoffmann Tumor|Dermatofibrosarcoma Protuberan|Dermatofibrosarcoma Protuberan, Familial|Dermatofibrosarcoma Protuberan, Fibrosarcomatous|Dermatofibrosarcoma Protuberan, Giant|Dermatofibrosarcoma Protuberan, Metastatic|Dermatofibrosarcoma Protuberan, Myxoid|Dermatofibrosarcoma Protuberan, Pigmented|Dermatofibrosarcoma Protuberans|Dermatofibrosarcoma Protuberans, Familial|Dermatofibrosarcoma Protuberans, Fibrosarcomatous|Dermatofibrosarcoma Protuberans, Giant|Dermatofibrosarcoma Protuberans, Giant Cell|Dermatofibrosarcoma Protuberans, Metastatic|Dermatofibrosarcoma Protuberans, Myxoid|Dermatofibrosarcoma Protuberans, Pigmented|Dermatofibrosarcomas|DFSP|DFSP, Fibrosarcomatous|DFSP, Juvenile|DFSP, Myxoid|DFSP, Pigmented|DFSPs, Fibrosarcomatous|DFSPs, Juvenile|DFSPs, Myxoid|DFSPs, Pigmented|Familial Dermatofibrosarcoma Protuberan|Familial Dermatofibrosarcoma Protuberans|Fibroblastoma, Giant Cell|Fibroblastomas, Giant Cell|Fibrosarcomatous Dermatofibrosarcoma Protuberan|Fibrosarcomatous Dermatofibrosarcoma Protuberans|Fibrosarcomatous DFSP|Fibrosarcomatous DFSPs|FS-DFSP|Giant Cell Fibroblastoma|Giant Cell Fibroblastomas|Giant Dermatofibrosarcoma Protuberan|Giant Dermatofibrosarcoma Protuberans|Juvenile DFSP|Juvenile DFSPs|Metastatic Dermatofibrosarcoma Protuberan|Metastatic Dermatofibrosarcoma Protuberans|Myxoid Dermatofibrosarcoma Protuberan|Myxoid Dermatofibrosarcoma Protuberans|Myxoid DFSP|Myxoid DFSPs|Pigmented Dermatofibrosarcoma Protuberan|Pigmented Dermatofibrosarcoma Protuberans|Pigmented DFSP|Pigmented DFSPs|Protuberan, Dermatofibrosarcoma|Protuberan, Familial Dermatofibrosarcoma|Protuberan, Fibrosarcomatous Dermatofibrosarcoma|Protuberan, Giant Dermatofibrosarcoma|Protuberan, Metastatic Dermatofibrosarcoma|Protuberan, Myxoid Dermatofibrosarcoma|Protuberan, Pigmented Dermatofibrosarcoma|Protuberans, Dermatofibrosarcoma|Protuberans, Familial Dermatofibrosarcoma|Protuberans, Fibrosarcomatous Dermatofibrosarcoma|Protuberans, Giant Dermatofibrosarcoma|Protuberans, Metastatic Dermatofibrosarcoma|Protuberans, Myxoid Dermatofibrosarcoma|Protuberans, Pigmented Dermatofibrosarcoma|Tumor, Bednar|Tumor, Bednar's|Tumor, Darier-Ferrand|Tumor, Darier-Hoffmann Cancer Dermatoleukodystrophy MESH:C538220 MESH:D001927|MESH:D012871 C10.228.140/C538220|C17.800/C538220 C10.228.140|C17.800 Nervous system disease|Skin disease Dermatomycoses MESH:D003881 DO:DOID:1563 Superficial infections of the skin or its appendages by any of various fungi. MESH:D009181|MESH:D012874 C01.150.703.302|C01.800.200|C17.800.838.208 C01.150.703|C01.800|C17.800.838 Dermatomycosis|Dermatophyte Infection|Fungal Skin Diseases|Skin Diseases, Fungal Bacterial infection or mycosis|Skin disease Dermatomyositis MESH:D003882 DO:DOID:10223|DO:DOID:14203 A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6) MESH:D003240|MESH:D012871|MESH:D017285 C05.651.594.819.500|C10.668.491.562.575.500|C17.300.250|C17.800.185 C05.651.594.819|C10.668.491.562.575|C17.300|C17.800 Adult Type Dermatomyositis|Childhood Type Dermatomyositis|Dermatomyositis, Adult Type|Dermatomyositis, Childhood Type|Dermatomyositis, Juvenile|Dermatopolymyositis|Juvenile Dermatomyositis|Juvenile Myositis|Myositis, Juvenile|Polymyositis Dermatomyositis|Polymyositis-Dermatomyositis Connective tissue disease|Musculoskeletal disease|Nervous system disease|Skin disease Dermatoosteolysis Kirghizian type MESH:C535373 MESH:D000848|MESH:D004476|MESH:D007634|MESH:D010014|MESH:D012883 C05.116.264.579/C535373|C07.650.800.100/C535373|C07.793.700.100/C535373|C11.204.564/C535373|C16.131.077.350/C535373|C16.131.831.350/C535373|C16.131.850.800.100/C535373|C16.320.850.250/C535373|C17.800.804.350/C535373|C17.800.827.250/C535373|C17.800.893/C535373 C05.116.264.579|C07.650.800.100|C07.793.700.100|C11.204.564|C16.131.077.350|C16.131.831.350|C16.131.850.800.100|C16.320.850.250|C17.800.804.350|C17.800.827.250|C17.800.893 Dermatoosteolysis, Kirghizian Type|Kirghizian Dermatoosteolysis Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Dermatopathia pigmentosa reticularis MESH:C535374 DO:DOID:0111342|OMIM:125595 MESH:D000505|MESH:D009260|MESH:D012878|MESH:D017495 C04.588.805/C535374|C17.800.329.937.122/C535374|C17.800.529/C535374|C17.800.621.430/C535374|C17.800.882/C535374|C23.300.035/C535374 C04.588.805|C17.800.329.937.122|C17.800.529|C17.800.621.430|C17.800.882|C23.300.035 DPR Cancer|Pathology (anatomical condition)|Skin disease dermatophilosis MESH:C000705607 MESH:D016908 C01.150.252.410/C000705607 C01.150.252.410 Dermatophilus congolensis infection|lumpy wool in sheep|mycotic dermatitis in sheep|rain scald in horses Bacterial infection or mycosis dermatophytid reaction MESH:C000656844 MESH:D003881 C01.150.703.302/C000656844|C01.800.200/C000656844|C17.800.838.208/C000656844 C01.150.703.302|C01.800.200|C17.800.838.208 cutaneous id reactions|dermatophytid reactions|identity reaction, cutaneous|identity reactions, cutaneous|id reaction, cutaneous|id reactions, cutaneous Bacterial infection or mycosis|Skin disease Dermatosis Papulosa Nigra MESH:C562379 DO:DOID:4400 MESH:D017444 C17.800.859/C562379 C17.800.859 Skin disease Dermochondrocorneal dystrophy of François MESH:C535375 MESH:D003317|MESH:D005097 C04.557.450.565.575.610.615.325/C535375|C04.700.330/C535375|C05.116.099.708.670.615.325/C535375|C05.116.540.310.500/C535375|C11.204.236/C535375|C11.270.162/C535375|C16.320.290.162/C535375|C16.320.700.330/C535375 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708.670.615.325|C05.116.540.310.500|C11.204.236|C11.270.162|C16.320.290.162|C16.320.700.330 Dermochondrocorneal dystrophy|Francois syndrome Cancer|Eye disease|Genetic disease (inborn)|Musculoskeletal disease Dermoid Cyst MESH:D003884 DO:DOID:2658 A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed) MESH:D003560|MESH:D013724 C04.182.201|C04.557.465.910.250 C04.182|C04.557.465.910 Cyst, Dermoid|Cysts, Dermoid|Dermoid|Dermoid Cysts|Dermoids Cancer Dermoid Cysts, Familial Frontonasal MESH:C563455 MESH:D003884|MESH:D009669 C04.182.201/C563455|C04.557.465.910.250/C563455|C04.588.149.721.600/C563455|C04.588.443.665.650/C563455|C05.116.231.754.600/C563455|C08.460.669/C563455|C08.785.600/C563455|C09.603.669/C563455|C09.647.685/C563455 C04.182.201|C04.557.465.910.250|C04.588.149.721.600|C04.588.443.665.650|C05.116.231.754.600|C08.460.669|C08.785.600|C09.603.669|C09.647.685 Cancer|Ear-nose-throat disease|Musculoskeletal disease|Respiratory tract disease Dermoids of cornea MESH:C535376 OMIM:304730 MESH:D002828|MESH:D003316|MESH:D006130 C11.204/C535376|C23.300.250/C535376|C23.550.393/C535376 C11.204|C23.300.250|C23.550.393 Bilateral corneal dermoids|CND|Corneal dermoids and short stature|Guizar-Vazquez Luengas-Munoz syndrome Eye disease|Pathology (anatomical condition)|Pathology (process) Dermoodontodysplasia MESH:C565103 MESH:D006201|MESH:D009264|MESH:D012868|MESH:D014071 C07.650.800/C565103|C07.793.700/C565103|C16.131.831/C565103|C16.131.850.800/C565103|C17.800.329/C565103|C17.800.804/C565103|C23.300.820/C565103 C07.650.800|C07.793.700|C16.131.831|C16.131.850.800|C17.800.329|C17.800.804|C23.300.820 Congenital abnormality|Mouth disease|Pathology (anatomical condition)|Skin disease De Sanctis-Cacchione syndrome MESH:C535992 DO:DOID:0112158|OMIM:278800 MESH:D004392|MESH:D007006|MESH:D008607|MESH:D014983 C04.834.867/C535992|C05.116.099.343/C535992|C10.597.606.360/C535992|C16.131.831.936/C535992|C16.320.240/C535992|C16.320.850.970/C535992|C17.800.600.925/C535992|C17.800.621.936/C535992|C17.800.804.936/C535992|C17.800.827.970/C535992|C18.452.284.975/C535992|C19.297/C535992|C19.391.482/C535992|C23.888.592.604.646/C535992|F03.625.539/C535992 C04.834.867|C05.116.099.343|C10.597.606.360|C16.131.831.936|C16.320.240|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975|C19.297|C19.391.482|C23.888.592.604.646|F03.625.539 Desanctis-Cacchione Syndrome|Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia|Xerodermic idiocy of de Sanctis and Cacchione Cancer|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease DESANTO-SHINAWI SYNDROME OMIM:616708 DO:DOID:0081126 MESH:D002658|MESH:D005124|MESH:D009123|MESH:D019465 C05.660.207/616708|C10.597.613.575/616708|C11.250/616708|C16.131.384/616708|C16.131.621.207/616708|C23.888.592.608.575/616708|F03.625.421/616708 C05.660.207|C10.597.613.575|C11.250|C16.131.384|C16.131.621.207|C23.888.592.608.575|F03.625.421 DESSH|DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES CHROMOSOME 10p12-p11 DELETION SYNDROME, INCLUDED Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Desbuquois syndrome MESH:C535943 DO:DOID:0060462|OMIM:251450|OMIM:615777 MESH:D004392|MESH:D007593|MESH:D009999|MESH:D017689|MESH:D019465 C05.116.099.343/C535943|C05.550.521/C535943|C05.660.207/C535943|C05.660.585.600/C535943|C16.131.621.207/C535943|C16.131.621.585.600/C535943|C16.320.240/C535943|C19.297/C535943|C23.550.751/C535943 C05.116.099.343|C05.550.521|C05.660.207|C05.660.585.600|C16.131.621.207|C16.131.621.585.600|C16.320.240|C19.297|C23.550.751 BARATELA-SCOTT SYNDROME|DBQD1|DBQD2|Desbuquois Dysplasia|DESBUQUOIS DYSPLASIA 1|DESBUQUOIS DYSPLASIA 2|DESBUQUOIS SYNDROME|Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification|MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION DESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Descending Thoracic Aortic Aneurysm MESH:D000094627 An abnormal balloon- or sac-like dilatation in the wall of the DESCENDING THORACIC AORTA. MESH:D017545 C14.907.055.239.125.750|C14.907.109.139.125.750 C14.907.055.239.125|C14.907.109.139.125 Aneurysm, Descending Thoracic Aorta Cardiovascular disease Desmoid disease, hereditary MESH:C535944 DO:DOID:0111349|OMIM:135290 MESH:D000008|MESH:D011125|MESH:D018222 C04.557.450.565.590.340.410/C535944|C04.557.470.035.215.100/C535944|C04.588.033/C535944|C04.588.274.476.411.307.089/C535944|C04.700.100/C535944|C06.301.371.411.307.090/C535944|C06.405.249.411.307.090/C535944|C06.405.469.158.356.090/C535944|C06.405.469.491.307.090/C535944|C06.405.469.578.249/C535944|C16.320.700.100/C535944 C04.557.450.565.590.340.410|C04.557.470.035.215.100|C04.588.033|C04.588.274.476.411.307.089|C04.700.100|C06.301.371.411.307.090|C06.405.249.411.307.090|C06.405.469.158.356.090|C06.405.469.491.307.090|C06.405.469.578.249|C16.320.700.100 DESMD|Desmoid Tumor Caused By Somatic Mutation|Familial infiltrative fibromatosis|Fibromatosis, familial infiltrative|FIBROMATOSIS, FAMILIAL INFILTRATIVE;FIF DESMOID TUMOR CAUSED BY SOMATIC MUTATION, INCLUDED Cancer|Digestive system disease|Genetic disease (inborn) Desmoplastic cerebral astrocytoma of infancy MESH:C535945 MESH:D001254|MESH:D001932|MESH:D018288 C04.557.465.625.600.380.080/C535945|C04.557.470.200.380/C535945|C04.557.470.670.380.080/C535945|C04.557.580.625.600.380.080/C535945|C04.588.614.250.195/C535945|C10.228.140.211/C535945|C10.551.240.250/C535945 C04.557.465.625.600.380.080|C04.557.470.200.380|C04.557.470.670.380.080|C04.557.580.625.600.380.080|C04.588.614.250.195|C10.228.140.211|C10.551.240.250 Cancer|Nervous system disease Desmoplastic Small Round Cell Tumor MESH:D058405 A rare, aggressive soft tissue sarcoma that primarily affects adolescents and young adults. It is most commonly found in the abdomen. MESH:D012509 C04.557.450.795.315 C04.557.450.795 Desmoplastic Small Cell Tumor|Desmoplastic Small-Cell Tumor|Desmoplastic Small-Cell Tumors|Desmoplastic Small Round-Cell Tumor|Small-Cell Tumor, Desmoplastic|Small-Cell Tumors, Desmoplastic|Tumor, Desmoplastic Small-Cell|Tumors, Desmoplastic Small-Cell Cancer Desmosterolosis MESH:C566555 OMIM:602398 MESH:D000015|MESH:D008052 C16.131.077/C566555|C16.320.565.398/C566555|C18.452.584.563/C566555|C18.452.648.398/C566555 C16.131.077|C16.320.565.398|C18.452.584.563|C18.452.648.398 Congenital abnormality|Genetic disease (inborn)|Metabolic disease Desulfovibrionaceae Infections MESH:D045824 Infections with bacteria of the family Desulfovibrionaceae. MESH:D016905 C01.150.252.400.260 C01.150.252.400 Bilophila Infection|Bilophila Infections|Desulfovibrio Infection|Desulfovibrio Infections|Desulfovibrionaceae Infection|Infection, Bilophila|Infection, Desulfovibrio|Infection, Desulfovibrionaceae|Infection, Lawsonia|Infections, Bilophila|Infections, Desulfovibrio|Infections, Desulfovibrionaceae|Infections, Lawsonia|Lawsonia Infection|Lawsonia Infections Bacterial infection or mycosis DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 OMIM:613721 DO:DOID:0080421 MESH:D013036 C10.228.140.490.375.760/613721|C10.228.140.490.493.875/613721 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE11|EIEE11|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12 OMIM:613722 DO:DOID:0080459 MESH:D013036 C10.228.140.490.375.760/613722|C10.228.140.490.493.875/613722 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE12|EIEE12|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 OMIM:614558 DO:DOID:0080445 MESH:D013036 C10.228.140.490.375.760/614558|C10.228.140.490.493.875/614558 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE13|EIEE13|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 OMIM:614959 DO:DOID:0080439 MESH:D013036 C10.228.140.490.375.760/614959|C10.228.140.490.493.875/614959 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE14|EIEE14|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 OMIM:615473 DO:DOID:0080450 MESH:D013036 C10.228.140.490.375.760/615473|C10.228.140.490.493.875/615473 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE17|EIEE17|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 OMIM:615476 DO:DOID:0080413 MESH:D013036 C10.228.140.490.375.760/615476|C10.228.140.490.493.875/615476 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE18|EIEE1|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 OMIM:615744 DO:DOID:0080431 MESH:D013036 C10.228.140.490.375.760/615744|C10.228.140.490.493.875/615744 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE19|EIEE19|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 OMIM:615833 DO:DOID:0080443 MESH:D013036 C10.228.140.490.375.760/615833|C10.228.140.490.493.875/615833 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE21|EIEE21|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 OMIM:615859 DO:DOID:0080415 MESH:D013036 C10.228.140.490.375.760/615859|C10.228.140.490.493.875/615859 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE23|EIEE23|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 OMIM:615871 DO:DOID:0080429 MESH:D013036 C10.228.140.490.375.760/615871|C10.228.140.490.493.875/615871 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE24|EIEE24|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA OMIM:615905 DO:DOID:0080453 MESH:D000567|MESH:D013036 C07.650.800.295.250/615905|C07.793.700.295.250/615905|C10.228.140.490.375.760/615905|C10.228.140.490.493.875/615905|C16.131.850.800.295.250/615905 C07.650.800.295.250|C07.793.700.295.250|C10.228.140.490.375.760|C10.228.140.490.493.875|C16.131.850.800.295.250 DEE25|EIEE25|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA Congenital abnormality|Mouth disease|Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26 OMIM:616056 DO:DOID:0080461 MESH:D013036 C10.228.140.490.375.760/616056|C10.228.140.490.493.875/616056 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE26|EIEE26|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 OMIM:616139 DO:DOID:0080444 MESH:D013036 C10.228.140.490.375.760/616139|C10.228.140.490.493.875/616139 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE27|EIEE27|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 OMIM:616211 DO:DOID:0080452 MESH:D013036 C10.228.140.490.375.760/616211|C10.228.140.490.493.875/616211 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE28|EIEE28|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 OMIM:616339 DO:DOID:0080451 MESH:D013036 C10.228.140.490.375.760/616339|C10.228.140.490.493.875/616339 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE29|EIEE29|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 OMIM:616341 DO:DOID:0080465 MESH:D013036 C10.228.140.490.375.760/616341|C10.228.140.490.493.875/616341 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE30|EIEE30|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31A OMIM:616346 DO:DOID:0080437 MESH:D013036 C10.228.140.490.375.760/616346|C10.228.140.490.493.875/616346 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE31|DEE31A|EIEE31|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32 OMIM:616366 DO:DOID:0080416 MESH:D013036 C10.228.140.490.375.760/616366|C10.228.140.490.493.875/616366 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE32|EIEE32|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 OMIM:616409 DO:DOID:0080463 MESH:D013036 C10.228.140.490.375.760/616409|C10.228.140.490.493.875/616409 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE33|EIEE33|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 OMIM:616645 DO:DOID:0080460 MESH:D013036 C10.228.140.490.375.760/616645|C10.228.140.490.493.875/616645 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE34|EIEE34|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 OMIM:616647 DO:DOID:0080458 MESH:D013036 C10.228.140.490.375.760/616647|C10.228.140.490.493.875/616647 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE35|EIEE35|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 OMIM:300884 DO:DOID:0080470 MESH:D013036 C10.228.140.490.375.760/300884|C10.228.140.490.493.875/300884 C10.228.140.490.375.760|C10.228.140.490.493.875 CDG1S|CDG Is|CDGIs|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is|DEE36|EIEE36|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 OMIM:616981 DO:DOID:0080435 MESH:D013036 C10.228.140.490.375.760/616981|C10.228.140.490.493.875/616981 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE37|EIEE37|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 OMIM:617020 DO:DOID:0080417 MESH:D013036 C10.228.140.490.375.760/617020|C10.228.140.490.493.875/617020 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE38|EIEE38|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38|GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 23|GPIBD23 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 OMIM:617065 DO:DOID:0080427 MESH:D013036 C10.228.140.490.375.760/617065|C10.228.140.490.493.875/617065 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE40|EIEE40|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 OMIM:617105 DO:DOID:0080442 MESH:D013036 C10.228.140.490.375.760/617105|C10.228.140.490.493.875/617105 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE41|EIEE41|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 OMIM:617106 DO:DOID:0080454 MESH:D013036 C10.228.140.490.375.760/617106|C10.228.140.490.493.875/617106 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE42|EIEE42|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 OMIM:617113 DO:DOID:0080447 MESH:D013036 C10.228.140.490.375.760/617113|C10.228.140.490.493.875/617113 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE43|EIEE43|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44 OMIM:617132 DO:DOID:0080424 MESH:D013036 C10.228.140.490.375.760/617132|C10.228.140.490.493.875/617132 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE44|EIEE44|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 OMIM:617153 DO:DOID:0080428 MESH:D013036 C10.228.140.490.375.760/617153|C10.228.140.490.493.875/617153 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE45|EIEE45|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 OMIM:617162 DO:DOID:0080456 MESH:D013036 C10.228.140.490.375.760/617162|C10.228.140.490.493.875/617162 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE46|EIEE46|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 OMIM:617166 DO:DOID:0080425 MESH:D013036 C10.228.140.490.375.760/617166|C10.228.140.490.493.875/617166 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE47|EIEE47|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 OMIM:617276 DO:DOID:0080448 MESH:D013036 C10.228.140.490.375.760/617276|C10.228.140.490.493.875/617276 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE48|EIEE48|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 OMIM:617281 DO:DOID:0080441 MESH:D013036 C10.228.140.490.375.760/617281|C10.228.140.490.493.875/617281 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE49|EIEE49|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 OMIM:613477 DO:DOID:0080438 MESH:D013036 C10.228.140.490.375.760/613477|C10.228.140.490.493.875/613477 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE5|EIEE5|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 OMIM:616457 DO:DOID:0080419 MESH:D013036 C10.228.140.490.375.760/616457|C10.228.140.490.493.875/616457 C10.228.140.490.375.760|C10.228.140.490.493.875 CDG1Z, FORMERLY|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iz, FORMERLY|DEE50|EIEE50|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 OMIM:617339 DO:DOID:0080433 MESH:D013036 C10.228.140.490.375.760/617339|C10.228.140.490.493.875/617339 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE51|EIEE51|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52 OMIM:617350 DO:DOID:0080455 MESH:D013036 C10.228.140.490.375.760/617350|C10.228.140.490.493.875/617350 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE52|EIEE52|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 OMIM:617389 DO:DOID:0080464 MESH:D013036 C10.228.140.490.375.760/617389|C10.228.140.490.493.875/617389 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE53|EIEE53|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 OMIM:617391 DO:DOID:0080418 MESH:D013036 C10.228.140.490.375.760/617391|C10.228.140.490.493.875/617391 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE54|EIEE54|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 Nervous system disease DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 OMIM:613720 DO:DOID:0080462 MESH:D013036 C10.228.140.490.375.760/613720|C10.228.140.490.493.875/613720 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE7|EIEE7|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 Nervous system disease Developmental Defects of Enamel MESH:D000094602 Defects in normal AMELOGENESIS caused by any local, systemic, environmental, or genetic factors. Enamel defects resulting from demineralization of normally developed DENTAL ENAMEL is referred to as TOOTH DEMINERALIZATION. MESH:D014071 C07.650.800.295|C07.793.700.295|C16.131.850.800.295 C07.650.800|C07.793.700|C16.131.850.800 Developmental Dental Enamel Defects|Enamel Developmental Defect|Enamel Developmental Defects Congenital abnormality|Mouth disease Developmental Delay, Epilepsy, and Neonatal Diabetes MESH:C565253 MESH:D003920|MESH:D004827|MESH:D007232|MESH:D011596 C10.228.140.490/C565253|C10.597.606.881/C565253|C16.614/C565253|C18.452.394.750/C565253|C19.246/C565253|C23.888.592.604.882/C565253 C10.228.140.490|C10.597.606.881|C16.614|C18.452.394.750|C19.246|C23.888.592.604.882 Endocrine system disease|Infant-newborn disease|Metabolic disease|Nervous system disease|Signs and symptoms DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 1 OMIM:616901 DO:DOID:0070477 MESH:D002658|MESH:D006130|MESH:D007039|MESH:D019465 C05.660.207/616901|C16.131.621.207/616901|C17.800.329.937/616901|C23.550.393/616901|F03.625.421/616901 C05.660.207|C16.131.621.207|C17.800.329.937|C23.550.393|F03.625.421 DEDSSH1|DIPHTHAMIDE DEFICIENCY SYNDROME 1|LOUCKS-INNES SYNDROME Congenital abnormality|Mental disorder|Musculoskeletal disease|Pathology (process)|Skin disease Developmental Disabilities MESH:D002658 Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) MESH:D065886 F03.625.421 F03.625 Child Development Deviation|Child Development Deviations|Child Development Disorder|Child Development Disorders|Child Development Disorders, Specific|Developmental Delay Disorder|Developmental Delay Disorders|Developmental Disability|Development Deviation, Child|Development Deviations, Child|Development Disorder, Child|Development Disorders, Child|Deviation, Child Development|Disabilities, Developmental|Disability, Developmental Mental disorder Developmental Dysplasia of the Hip MESH:D000082602 Dislocation of the HIP JOINT from an abnormal FEMORAL HEAD to the ACETABULUM relationship. It is most often due to ligamentous laxity, abnormal positioning of the joint and various other developmental, congenital factors, and method of delivery (e.g., OLIGOHYDRAMNIOS). When dislocation is diagnosed in neonates it is referred to as CONGENITAL HIP DYSPLASIA. MESH:D006617|MESH:D009139 C05.550.518.384.500|C05.660.297|C16.131.621.297 C05.550.518.384|C05.660|C16.131.621 Developmental Hip Dislocation|Developmental Hip Dislocations|Developmental Hip Dysplasia|Developmental Hip Dysplasias|Dislocation, Developmental Hip|Dysplasia, Developmental Hip|Hip Dislocation, Developmental|Hip Dysplasia, Developmental Congenital abnormality|Musculoskeletal disease DEVELOPMENTAL DYSPLASIA OF THE HIP 1 OMIM:142700 MESH:D006618 C05.660.297.500/142700|C16.131.621.297.500/142700|C16.131.621.449/142700 C05.660.297.500|C16.131.621.297.500|C16.131.621.449 ACETABULAR DYSPLASIA|CDH|DDH|DDH1|HIP DYSPLASIA, CONGENITAL|HIP DYSPLASIA, DEVELOPMENTAL Congenital abnormality|Musculoskeletal disease Devriendt syndrome MESH:C535947 MESH:D000015|MESH:D006130|MESH:D008607 C10.597.606.360/C535947|C16.131.077/C535947|C23.550.393/C535947|C23.888.592.604.646/C535947|F03.625.539/C535947 C10.597.606.360|C16.131.077|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Dextrocardia MESH:D003914 DO:DOID:9565 A congenital defect in which the heart is located on the right side of the THORAX instead of on the left side (levocardia, the normal position). When dextrocardia is accompanied with inverted HEART ATRIA, a right-sided STOMACH, and a left-sided LIVER, the combination is called dextrocardia with SITUS INVERSUS. Dextrocardia may adversely affect other thoracic organs. MESH:D006330|MESH:D012857 C14.240.400.280|C14.280.400.280|C16.131.240.400.280|C16.131.810.250 C14.240.400|C14.280.400|C16.131.240.400|C16.131.810 Dextrocardias Cardiovascular disease|Congenital abnormality D-glycericacidemia MESH:C535767 DO:DOID:0111626|OMIM:220120 MESH:D002239 C16.320.565.202/C535767|C18.452.648.202/C535767 C16.320.565.202|C18.452.648.202 D-Glycerate kinase deficiency|D-Glyceric Acidemia|D-GLYCERIC ACIDURIA|Glycerate Kinase Deficiency Genetic disease (inborn)|Metabolic disease dhat syndrome MESH:C000711649 MESH:D013001|MESH:D061686 C12.100.500.530/C000711649|C12.100.875.743/C000711649|C12.200.294.530/C000711649|F03.835.700/C000711649|F03.875/C000711649 C12.100.500.530|C12.100.875.743|C12.200.294.530|F03.835.700|F03.875 semen loss syndrome|semen-loss syndrome Mental disorder|Urogenital disease (male) Diabetes Complications MESH:D048909 Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE. MESH:D003920 C19.246.099 C19.246 Complications of Diabetes Mellitus|Diabetes Complication|Diabetes Mellitus Complication|Diabetes Mellitus Complications|Diabetes-Related Complication|Diabetes Related Complications|Diabetes-Related Complications|Diabetic Complication|Diabetic Complications Endocrine system disease Diabetes, Gestational MESH:D016640 DO:DOID:11714 Diabetes mellitus induced by PREGNANCY but resolved at the end of pregnancy. It does not include previously diagnosed diabetics who become pregnant (PREGNANCY IN DIABETICS). Gestational diabetes usually develops in late pregnancy when insulin antagonistic hormones peaks leading to INSULIN RESISTANCE; GLUCOSE INTOLERANCE; and HYPERGLYCEMIA. MESH:D003920|MESH:D011248 C12.050.703.170|C18.452.394.750.448|C19.246.200 C12.050.703|C18.452.394.750|C19.246 Diabetes Mellitus, Gestational|Diabetes, Pregnancy Induced|Diabetes, Pregnancy-Induced|Gestational Diabetes|Gestational Diabetes Mellitus|Pregnancy-Induced Diabetes Endocrine system disease|Metabolic disease|Pregnancy complication Diabetes Insipidus MESH:D003919 DO:DOID:9409 A disease that is characterized by frequent urination, excretion of large amounts of dilute URINE, and excessive THIRST. Etiologies of diabetes insipidus include deficiency of antidiuretic hormone (also known as ADH or VASOPRESSIN) secreted by the NEUROHYPOPHYSIS, impaired KIDNEY response to ADH, and impaired hypothalamic regulation of thirst. MESH:D007674|MESH:D010900 C12.050.351.968.419.135|C12.200.777.419.135|C12.950.419.135|C19.700.159 C12.050.351.968.419|C12.200.777.419|C12.950.419|C19.700 Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Diabetes Insipidus, Nephrogenic MESH:D018500 DO:DOID:12387|OMIM:125800|OMIM:304800 A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY. MESH:D003919 C12.050.351.968.419.135.500|C12.200.777.419.135.500|C12.950.419.135.500 C12.050.351.968.419.135|C12.200.777.419.135|C12.950.419.135 Acquired Nephrogenic Diabetes Insipidus|ADH-Resistant Diabetes Insipidus|Congenital Nephrogenic Diabetes Insipidus|DIABETES INSIPIDUS, NEPHROGENIC, 1, X-LINKED|DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL|Diabetes Insipidus, Nephrogenic, Autosomal|Diabetes Insipidus, Nephrogenic, Type 1|Diabetes Insipidus, Nephrogenic, Type I|Diabetes Insipidus, Nephrogenic, Type II|Diabetes Insipidus, Nephrogenic, X-Linked|Diabetes Insipidus Renalis|NDI|NDI1|NDI2|Nephrogenic Diabetes Insipidus|Nephrogenic Diabetes Insipidus, Type I|Nephrogenic Diabetes Insipidus, Type II|Vasopressin-Resistant Diabetes Insipidus Urogenital disease (female)|Urogenital disease (male) Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification MESH:C565632 MESH:D002114|MESH:D008607|MESH:D018500 C10.597.606.360/C565632|C12.050.351.968.419.135.500/C565632|C12.200.777.419.135.500/C565632|C12.950.419.135.500/C565632|C18.452.174.130/C565632|C23.888.592.604.646/C565632|F03.625.539/C565632 C10.597.606.360|C12.050.351.968.419.135.500|C12.200.777.419.135.500|C12.950.419.135.500|C18.452.174.130|C23.888.592.604.646|F03.625.539 Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Diabetes Insipidus, Neurogenic MESH:D020790 DO:DOID:12388|OMIM:125700 A genetic or acquired polyuric disorder caused by a deficiency of VASOPRESSINS secreted by the NEUROHYPOPHYSIS. Clinical signs include the excretion of large volumes of dilute URINE; HYPERNATREMIA; THIRST; and polydipsia. Etiologies include HEAD TRAUMA; surgeries and diseases involving the HYPOTHALAMUS and the PITUITARY GLAND. This disorder may also be caused by mutations of genes such as ARVP encoding vasopressin and its corresponding neurophysin (NEUROPHYSINS). MESH:D003919 C12.050.351.968.419.135.750|C12.200.777.419.135.750|C12.950.419.135.750|C19.700.159.750 C12.050.351.968.419.135|C12.200.777.419.135|C12.950.419.135|C19.700.159 CDI|Central Diabetes Insipidus|Diabetes Insipidus, Central|Diabetes Insipidus Cranial Type|Diabetes Insipidus, Cranial Type|Diabetes Insipidus, Neurohypophyseal|Diabetes Insipidus, Neurohypophyseal Type|Diabetes Insipidus, Pituitary|Diabetes Insipidus Primary Central|Diabetes Insipidus, Primary Central|Diabetes Insipidus Secondary To Vasopressin Deficiency|Neurogenic Diabetes Insipidus|Neurohypophyseal Diabetes Insipidus|Pituitary Diabetes Insipidus|Vasopressin Defective Diabetes Insipidus|Vasopressin Deficiency Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Diabetes Mellitus MESH:D003920 DO:DOID:9351 A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. MESH:D004700|MESH:D044882 C18.452.394.750|C19.246 C18.452.394|C19 Endocrine system disease|Metabolic disease Diabetes Mellitus, Congenital Autoimmune MESH:C565730 MESH:D001327|MESH:D003920 C18.452.394.750/C565730|C19.246/C565730|C20.111/C565730 C18.452.394.750|C19.246|C20.111 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Experimental MESH:D003921 Diabetes mellitus induced experimentally by administration of various diabetogenic agents or by PANCREATECTOMY. MESH:D003920 C18.452.394.750.074|C19.246.240 C18.452.394.750|C19.246 Alloxan Diabetes|Diabetes, Alloxan|Diabetes, Streptozocin|Diabetes, Streptozotocin|Diabete, Streptozocin|Experimental Diabetes Mellitus|Streptozocin Diabete|Streptozocin Diabetes|Streptozotocin Diabetes Endocrine system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 10 MESH:C566602 OMIM:601942 MESH:D003922 C18.452.394.750.124/C566602|C19.246.267/C566602|C20.111.327/C566602 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 10|IDDM10|Insulin-Dependent Diabetes Mellitus 10|T1D10|TYPE 1 DIABETES MELLITUS 10 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 11 MESH:C563371 OMIM:601208 MESH:D003922 C18.452.394.750.124/C563371|C19.246.267/C563371|C20.111.327/C563371 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 11|IDDM11|Insulin-Dependent Diabetes Mellitus 11|T1D11|TYPE 1 DIABETES MELLITUS 11 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 12 MESH:C563326 OMIM:601388 MESH:D003922 C18.452.394.750.124/C563326|C19.246.267/C563326|C20.111.327/C563326 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 12|IDDM12|Insulin-Dependent Diabetes Mellitus 12|T1D12|TYPE 1 DIABETES MELLITUS 12 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 13 MESH:C563352 OMIM:601318 MESH:D003922 C18.452.394.750.124/C563352|C19.246.267/C563352|C20.111.327/C563352 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 13|IDDM13|Insulin-Dependent Diabetes Mellitus 13|T1D13|TYPE 1 DIABETES MELLITUS 13 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 15 MESH:C566645 OMIM:601666 MESH:D003922 C18.452.394.750.124/C566645|C19.246.267/C566645|C20.111.327/C566645 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 15|IDDM15|Insulin-Dependent Diabetes Mellitus 15|T1D15|TYPE 1 DIABETES MELLITUS 15 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 17 MESH:C566395 OMIM:603266 MESH:D003922 C18.452.394.750.124/C566395|C19.246.267/C566395|C20.111.327/C566395 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 17|IDDM17|Insulin-Dependent Diabetes Mellitus 17|TID17|TYPE 1 DIABETES MELLITUS 17 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 18 MESH:C565315 OMIM:605598 MESH:D003922 C18.452.394.750.124/C565315|C19.246.267/C565315|C20.111.327/C565315 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 18|IDDM18|Insulin-Dependent Diabetes Mellitus 18|T1D18|TYPE 1 DIABETES MELLITUS 18 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 19 MESH:C565715 OMIM:610155 MESH:D003922 C18.452.394.750.124/C565715|C19.246.267/C565715|C20.111.327/C565715 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 19|IDDM19|T1D19|TYPE 1 DIABETES MELLITUS 19 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 2 MESH:C565100 OMIM:125852 MESH:D003922 C18.452.394.750.124/C565100|C19.246.267/C565100|C20.111.327/C565100 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 2|IDDM2|Insulin-Dependent Diabetes Mellitus 2|T1D2|TYPE 1 DIABETES MELLITUS 2 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 20 MESH:C567286 OMIM:612520 MESH:D003922 C18.452.394.750.124/C567286|C19.246.267/C567286|C20.111.327/C567286 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 20|IDDM20|T1D20|TYPE 1 DIABETES MELLITUS 20 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 21 MESH:C567285 OMIM:612521 MESH:D003922 C18.452.394.750.124/C567285|C19.246.267/C567285|C20.111.327/C567285 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 21|IDDM21|T1D21|TYPE 1 DIABETES MELLITUS 21 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 22 MESH:C567284 OMIM:612522 MESH:D003922 C18.452.394.750.124/C567284|C19.246.267/C567284|C20.111.327/C567284 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 22|IDDM22|T1D22|TYPE 1 DIABETES MELLITUS 22 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 23 MESH:C567233 OMIM:612622 MESH:D003922 C18.452.394.750.124/C567233|C19.246.267/C567233|C20.111.327/C567233 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 23|IDDM23|T1D23|TYPE 1 DIABETES MELLITUS 23 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 24 MESH:C567818 OMIM:613006 MESH:D003922 C18.452.394.750.124/C567818|C19.246.267/C567818|C20.111.327/C567818 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 24|IDDM24|T1D24|TYPE 1 DIABETES MELLITUS 24 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 3 MESH:C563960 OMIM:600318 MESH:D003922 C18.452.394.750.124/C563960|C19.246.267/C563960|C20.111.327/C563960 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 3|IDDM3|Insulin-Dependent Diabetes Mellitus 3|T1D3|TYPE 1 DIABETES MELLITUS 3 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 4 MESH:C563959 OMIM:600319 MESH:D003922 C18.452.394.750.124/C563959|C19.246.267/C563959|C20.111.327/C563959 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 4|IDDM4|Insulin-Dependent Diabetes Mellitus 4|T1D4|TYPE 1 DIABETES MELLITUS 4 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 5 MESH:C563958 OMIM:600320 MESH:D003922 C18.452.394.750.124/C563958|C19.246.267/C563958|C20.111.327/C563958 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 5|IDDM5|Insulin-Dependent Diabetes Mellitus 5|T1D5|TYPE 1 DIABETES MELLITUS 5 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 6 MESH:C566603 OMIM:601941 MESH:D003922 C18.452.394.750.124/C566603|C19.246.267/C566603|C20.111.327/C566603 C18.452.394.750.124|C19.246.267|C20.111.327 AITD5, INCLUDED|DIABETES MELLITUS, INSULIN-DEPENDENT, 6|IDDM6|Insulin-Dependent Diabetes Mellitus 6|INSULIN-DEPENDENT DIABETES MELLITUS 6 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED|T1D6|TYPE 1 DIABETES MELLITUS 6 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 7 MESH:C563957 OMIM:600321 MESH:D003922 C18.452.394.750.124/C563957|C19.246.267/C563957|C20.111.327/C563957 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 7|IDDM7|Insulin-Dependent Diabetes Mellitus 7|T1D7|TYPE 1 DIABETES MELLITUS 7 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Dependent, 8 MESH:C563433 OMIM:600883 MESH:D003922 C18.452.394.750.124/C563433|C19.246.267/C563433|C20.111.327/C563433 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, 8|IDDM8|Insulin-Dependent Diabetes Mellitus 8|T1D8|TYPE 1 DIABETES MELLITUS 8 Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans MESH:C562710 OMIM:610549 MESH:D000052|MESH:D003920|MESH:D007333 C17.800.621.430.530.100/C562710|C18.452.394.750/C562710|C18.452.394.968.500/C562710|C19.246/C562710 C17.800.621.430.530.100|C18.452.394.750|C18.452.394.968.500|C19.246 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type A|INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS|Insulin Receptor Defect with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans|IRAN, Type A Endocrine system disease|Metabolic disease|Skin disease Diabetes Mellitus, Lipoatrophic MESH:D003923 DO:DOID:11712 A type of diabetes mellitus that is characterized by severe INSULIN RESISTANCE and LIPODYSTROPHY. The latter may be generalized, partial, acquired, or congenital (LIPODYSTROPHY, CONGENITAL GENERALIZED). MESH:D003924 C18.452.394.750.149.500|C19.246.300.500 C18.452.394.750.149|C19.246.300 Diabete, Lipoatrophic|Diabetes, Lipoatrophic|Lipoatrophic Diabete|Lipoatrophic Diabetes|Lipoatrophic Diabetes Mellitus Endocrine system disease|Metabolic disease Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism MESH:C565705 OMIM:610199 MESH:D003409|MESH:D003920 C05.116.099.343.347/C565705|C05.116.132.256/C565705|C16.320.240.625/C565705|C18.452.394.750/C565705|C19.246/C565705|C19.297.155/C565705|C19.874.482.281/C565705 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C18.452.394.750|C19.246|C19.297.155|C19.874.482.281 NDH|NDH SYNDROME Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Diabetes Mellitus, Noninsulin-Dependent, 1 MESH:C563359 OMIM:601283 MESH:D003924 C18.452.394.750.149/C563359|C19.246.300/C563359 C18.452.394.750.149|C19.246.300 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1|NIDDM1|Noninsulin-Dependent Diabetes Mellitus 1|T2D1|TYPE 2 DIABETES MELLITUS 1 Endocrine system disease|Metabolic disease Diabetes Mellitus, Noninsulin-Dependent, 2 MESH:C563323 OMIM:601407 MESH:D003924 C18.452.394.750.149/C563323|C19.246.300/C563323 C18.452.394.750.149|C19.246.300 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2|NIDDM2|Noninsulin-Dependent Diabetes Mellitus 2|T2D2|TYPE 2 DIABETES MELLITUS 2 Endocrine system disease|Metabolic disease Diabetes Mellitus, Noninsulin-Dependent, 3 MESH:C566342 OMIM:603694 MESH:D003924 C18.452.394.750.149/C566342|C19.246.300/C566342 C18.452.394.750.149|C19.246.300 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 3|NIDDM3|Noninsulin-Dependent Diabetes Mellitus 3|T2D3|TYPE 2 DIABETES MELLITUS 3 Endocrine system disease|Metabolic disease Diabetes Mellitus, Noninsulin-Dependent, Type 4 MESH:C564299 OMIM:608036 MESH:D003924 C18.452.394.750.149/C564299|C19.246.300/C564299 C18.452.394.750.149|C19.246.300 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 4|NIDDM4|Noninsulin-Dependent Diabetes Mellitus 4|T2D4|TYPE 2 DIABETES MELLITUS 4 Endocrine system disease|Metabolic disease Diabetes Mellitus, Permanent Neonatal MESH:C563425 OMIM:606176 MESH:D003920 C18.452.394.750/C563425|C19.246/C563425 C18.452.394.750|C19.246 DIABETES MELLITUS, PERMANENT NEONATAL, 1|Diabetes Mellitus, Permanent, of Infancy|PDMI|Permanent Neonatal Diabetes Mellitus|PNDM1 Endocrine system disease|Metabolic disease Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis MESH:C563796 OMIM:609069 MESH:D003920|MESH:D005317|MESH:D019066 C12.050.703.277.370/C563796|C16.300.390/C563796|C18.452.394.750/C563796|C19.246/C563796|C23.550.291.812/C563796|C23.550.393.450/C563796 C12.050.703.277.370|C16.300.390|C18.452.394.750|C19.246|C23.550.291.812|C23.550.393.450 DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS|PACA|Pancreatic and Cerebellar Agenesis Endocrine system disease|Fetal disease|Metabolic disease|Pathology (process)|Pregnancy complication Diabetes Mellitus, Permanent Neonatal, With Neurologic Features MESH:C563424 MESH:D003920|MESH:D009461 C10.597/C563424|C18.452.394.750/C563424|C19.246/C563424|C23.888.592/C563424 C10.597|C18.452.394.750|C19.246|C23.888.592 Endocrine system disease|Metabolic disease|Nervous system disease|Signs and symptoms Diabetes Mellitus, Transient Neonatal, 1 MESH:C563322 OMIM:601410 MESH:D003920|MESH:D007232 C16.614/C563322|C18.452.394.750/C563322|C19.246/C563322 C16.614|C18.452.394.750|C19.246 6q24-RELATED DIABETES MELLITUS|DMTN|TNDM|TNDM1 Endocrine system disease|Infant-newborn disease|Metabolic disease Diabetes Mellitus, Transient Neonatal, 2 MESH:C563672 OMIM:610374 MESH:D003920|MESH:D007232 C16.614/C563672|C18.452.394.750/C563672|C19.246/C563672 C16.614|C18.452.394.750|C19.246 TNDM2 Endocrine system disease|Infant-newborn disease|Metabolic disease Diabetes Mellitus, Transient Neonatal, 3 MESH:C566432 OMIM:610582 MESH:D003920 C18.452.394.750/C566432|C19.246/C566432 C18.452.394.750|C19.246 TNDM3 DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT, INCLUDED Endocrine system disease|Metabolic disease Diabetes Mellitus, Type 1 MESH:D003922 DO:DOID:9744|OMIM:222100|OMIM:612227 A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence. MESH:D001327|MESH:D003920 C18.452.394.750.124|C19.246.267|C20.111.327 C18.452.394.750|C19.246|C20.111 Autoimmune Diabetes|Brittle Diabetes Mellitus|Diabetes, Autoimmune|Diabetes, Juvenile-Onset|Diabetes Mellitus, Brittle|Diabetes Mellitus, Insulin Dependent|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Insulin-Dependent, 1|DIABETES MELLITUS, INSULIN-DEPENDENT, 1, INCLUDED|Diabetes Mellitus, Juvenile Onset|Diabetes Mellitus, Juvenile-Onset|Diabetes Mellitus, Ketosis Prone|Diabetes Mellitus, Ketosis-Prone|Diabetes Mellitus, Sudden Onset|Diabetes Mellitus, Sudden-Onset|Diabetes Mellitus, Type I|Diabetes, Type 1|IDDM|IDDM1, INCLUDED|Insulin-Dependent Diabetes Mellitus|Insulin Dependent Diabetes Mellitus 1|Insulin-Dependent Diabetes Mellitus 1|INSULIN-DEPENDENT DIABETES MELLITUS 1, INCLUDED|Juvenile Onset Diabetes|Juvenile-Onset Diabetes|JUVENILE-ONSET DIABETES;JOD TYPE 1 DIABETES MELLITUS 1, INCLUDED|Juvenile-Onset Diabetes Mellitus|Ketosis-Prone Diabetes Mellitus|KPD|Sudden-Onset Diabetes Mellitus|T1D|T1D1, INCLUDED|Type 1 Diabetes|Type 1 Diabetes Mellitus Endocrine system disease|Immune system disease|Metabolic disease Diabetes Mellitus, Type 2 MESH:D003924 DO:DOID:9352|OMIM:125853 A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY. MESH:D003920 C18.452.394.750.149|C19.246.300 C18.452.394.750|C19.246 Adult-Onset Diabetes Mellitus|Diabetes, Maturity-Onset|Diabetes Mellitus, Adult Onset|Diabetes Mellitus, Adult-Onset|Diabetes Mellitus, Ketosis Resistant|Diabetes Mellitus, Ketosis-Resistant|Diabetes Mellitus, Maturity Onset|Diabetes Mellitus, Maturity-Onset|Diabetes Mellitus, Noninsulin Dependent|Diabetes Mellitus, Noninsulin-Dependent|Diabetes Mellitus, Non Insulin Dependent|Diabetes Mellitus, Non-Insulin-Dependent|Diabetes Mellitus, Slow Onset|Diabetes Mellitus, Slow-Onset|Diabetes Mellitus, Stable|DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST, INCLUDED|Diabetes Mellitus, Type II|Diabetes, Type 2|Ketosis-Resistant Diabetes Mellitus|Maturity Onset Diabetes|Maturity-Onset Diabetes|MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED|Maturity Onset Diabetes Mellitus|Maturity-Onset Diabetes Mellitus|MODY|NIDDM|Noninsulin Dependent Diabetes Mellitus|Noninsulin-Dependent Diabetes Mellitus|Non-Insulin-Dependent Diabetes Mellitus|Slow-Onset Diabetes Mellitus|Stable Diabetes Mellitus|T2D|Type 2 Diabetes|Type 2 Diabetes Mellitus Endocrine system disease|Metabolic disease Diabetic Angiopathies MESH:D003925 DO:DOID:11713 VASCULAR DISEASES that are associated with DIABETES MELLITUS. MESH:D014652|MESH:D048909 C14.907.320|C19.246.099.500 C14.907|C19.246.099 Angiopathies, Diabetic|Angiopathy, Diabetic|Diabetic Angiopathy|Diabetic Microangiopathies|Diabetic Microangiopathy|Diabetic Vascular Complication|Diabetic Vascular Complications|Diabetic Vascular Disease|Diabetic Vascular Diseases|Microangiopathies, Diabetic|Microangiopathy, Diabetic|Vascular Complication, Diabetic|Vascular Complications, Diabetic|Vascular Disease, Diabetic|Vascular Diseases, Diabetic Cardiovascular disease|Endocrine system disease Diabetic Cardiomyopathies MESH:D058065 Diabetes complications in which VENTRICULAR REMODELING in the absence of CORONARY ATHEROSCLEROSIS and hypertension results in cardiac dysfunctions, typically LEFT VENTRICULAR DYSFUNCTION. The changes also result in myocardial hypertrophy, myocardial necrosis and fibrosis, and collagen deposition due to impaired glucose tolerance. MESH:D009202|MESH:D048909 C14.280.238.235|C19.246.099.625 C14.280.238|C19.246.099 Cardiomyopathies, Diabetic|Cardiomyopathy, Diabetic|Diabetic Cardiomyopathy Cardiovascular disease|Endocrine system disease Diabetic Coma MESH:D003926 A state of unconsciousness as a complication of diabetes mellitus. It occurs in cases of extreme HYPERGLYCEMIA or extreme HYPOGLYCEMIA as a complication of INSULIN therapy. MESH:D048909 C19.246.099.750 C19.246.099 Coma, Diabetic|Comas, Diabetic|Diabetic Comas Endocrine system disease Diabetic Foot MESH:D017719 Common foot problems in persons with DIABETES MELLITUS, caused by any combination of factors such as DIABETIC NEUROPATHIES; PERIPHERAL VASCULAR DISEASES; and INFECTION. With the loss of sensation and poor circulation, injuries and infections often lead to severe foot ulceration, GANGRENE and AMPUTATION, SURGICAL. MESH:D003925|MESH:D003929|MESH:D016523 C14.907.320.191|C17.800.893.592.450.200|C19.246.099.500.191|C19.246.099.937.250 C14.907.320|C17.800.893.592.450|C19.246.099.500|C19.246.099.937 Diabetic Feet|Feet, Diabetic|Foot, Diabetic|Foot Ulcer, Diabetic Cardiovascular disease|Endocrine system disease|Skin disease Diabetic Ketoacidosis MESH:D016883 DO:DOID:1837 A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA. MESH:D007662|MESH:D048909 C18.452.076.176.652.500|C19.246.099.812 C18.452.076.176.652|C19.246.099 Acidoses, Diabetic|Acidosis, Diabetic|Diabetic Acidoses|Diabetic Acidosis|Diabetic Ketoacidoses|Diabetic Ketoacidosis, DKA|Diabetic Ketoses|Diabetic Ketosis|DKA Diabetic Ketoacidoses|DKA Diabetic Ketoacidosis|Ketoacidoses, Diabetic|Ketoacidosis, Diabetic|Ketoacidosis, DKA Diabetic|Ketoses, Diabetic|Ketosis, Diabetic Endocrine system disease|Metabolic disease Diabetic Nephropathies MESH:D003928 KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE. MESH:D007674|MESH:D048909 C12.050.351.968.419.192|C12.200.777.419.192|C12.950.419.192|C19.246.099.875 C12.050.351.968.419|C12.200.777.419|C12.950.419|C19.246.099 Diabetic Glomerulosclerosis|Diabetic Kidney Disease|Diabetic Kidney Diseases|Diabetic Nephropathy|Glomerulosclerosis, Diabetic|Glomerulosclerosis, Nodular|Intracapillary Glomerulosclerosis|Kidney Disease, Diabetic|Kidney Diseases, Diabetic|Kimmelstiel Wilson Disease|Kimmelstiel-Wilson Disease|Kimmelstiel Wilson Syndrome|Kimmelstiel-Wilson Syndrome|Nephropathies, Diabetic|Nephropathy, Diabetic|Nodular Glomerulosclerosis|Syndrome, Kimmelstiel-Wilson Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Diabetic Neuropathies MESH:D003929 DO:DOID:11503|DO:DOID:12785|DO:DOID:9743 Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325) MESH:D010523|MESH:D048909 C10.668.829.300|C19.246.099.937 C10.668.829|C19.246.099 Amyotrophies, Diabetic|Amyotrophy, Diabetic|Asymmetric Diabetic Proximal Motor Neuropathy|Asymmetric Polyneuropathies, Diabetic|Asymmetric Polyneuropathy, Diabetic|Autonomic Neuropathies, Diabetic|Autonomic Neuropathy, Diabetic|Diabetic Amyotrophies|Diabetic Amyotrophy|Diabetic Asymmetric Polyneuropathies|Diabetic Asymmetric Polyneuropathy|Diabetic Autonomic Neuropathies|Diabetic Autonomic Neuropathy|Diabetic Mononeuropathies|Diabetic Mononeuropathy|Diabetic Mononeuropathy Simplex|Diabetic Mononeuropathy Simplices|Diabetic Neuralgia|Diabetic Neuralgias|Diabetic Neuropathies, Painful|Diabetic Neuropathy|Diabetic Neuropathy, Painful|Diabetic Polyneuropathies|Diabetic Polyneuropathy|Mononeuropathies, Diabetic|Mononeuropathy, Diabetic|Mononeuropathy Simplex, Diabetic|Mononeuropathy Simplices, Diabetic|Neuralgia, Diabetic|Neuralgias, Diabetic|Neuropathies, Diabetic|Neuropathies, Diabetic Autonomic|Neuropathies, Painful Diabetic|Neuropathy, Diabetic|Neuropathy, Diabetic Autonomic|Neuropathy, Painful Diabetic|Painful Diabetic Neuropathies|Painful Diabetic Neuropathy|Polyneuropathies, Diabetic|Polyneuropathies, Diabetic Asymmetric|Polyneuropathy, Diabetic|Polyneuropathy, Diabetic Asymmetric|Simplex, Diabetic Mononeuropathy|Simplices, Diabetic Mononeuropathy|Symmetric Diabetic Proximal Motor Neuropathy Endocrine system disease|Nervous system disease Diabetic Retinopathy MESH:D003930 DO:DOID:8947 Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION. MESH:D003925|MESH:D012164 C11.768.257|C14.907.320.382|C19.246.099.500.382 C11.768|C14.907.320|C19.246.099.500 Diabetic Retinopathies|Retinopathies, Diabetic|Retinopathy, Diabetic Cardiovascular disease|Endocrine system disease|Eye disease Diabulimia MESH:D000080887 Eating disorder occurring typically in patients with DIABETES MELLITUS, TYPE 1 who restrict INSULIN intake in order to lose weight. MESH:D001068 F03.400.375 F03.400 Eating Disorder Diabetes Mellitus Type 1 Mental disorder Diaminopentanuria MESH:C565630 MESH:D000592|MESH:D001259|MESH:D009128|MESH:D011596 C05.651.512/C565630|C10.597.350.090/C565630|C10.597.606.881/C565630|C10.597.613.550.550/C565630|C16.320.565.100/C565630|C18.452.648.100/C565630|C23.888.592.350.090/C565630|C23.888.592.604.882/C565630|C23.888.592.608.550.550/C565630 C05.651.512|C10.597.350.090|C10.597.606.881|C10.597.613.550.550|C16.320.565.100|C18.452.648.100|C23.888.592.350.090|C23.888.592.604.882|C23.888.592.608.550.550 Cystine-Lysinuria Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Diamond-Blackfan Anemia 1 MESH:C567302 DO:DOID:0111895 MESH:D029503 C15.378.071.085.080.090/C567302|C15.378.071.750.500/C567302|C15.378.190.223.500.500.090/C567302|C16.320.077.090/C567302 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 Blood disease|Genetic disease (inborn) Diamond-Blackfan Anemia 10 MESH:C567649 DO:DOID:0111888|OMIM:613309 MESH:D029503 C15.378.071.085.080.090/C567649|C15.378.071.750.500/C567649|C15.378.190.223.500.500.090/C567649|C16.320.077.090/C567649 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA10 Blood disease|Genetic disease (inborn) DIAMOND-BLACKFAN ANEMIA 11 OMIM:614900 DO:DOID:0111892 MESH:D029503 C15.378.071.085.080.090/614900|C15.378.071.750.500/614900|C15.378.190.223.500.500.090/614900|C16.320.077.090/614900 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA11 Blood disease|Genetic disease (inborn) DIAMOND-BLACKFAN ANEMIA 12 OMIM:615550 DO:DOID:0111882 MESH:D029503 C15.378.071.085.080.090/615550|C15.378.071.750.500/615550|C15.378.190.223.500.500.090/615550|C16.320.077.090/615550 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA12 Blood disease|Genetic disease (inborn) DIAMOND-BLACKFAN ANEMIA 13 OMIM:615909 DO:DOID:0111889 MESH:D029503 C15.378.071.085.080.090/615909|C15.378.071.750.500/615909|C15.378.190.223.500.500.090/615909|C16.320.077.090/615909 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA13 Blood disease|Genetic disease (inborn) DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS OMIM:300946 DO:DOID:0111897 MESH:D008342|MESH:D029503 C05.116.099.370.231.576/300946|C05.660.207.231.576/300946|C11.270.147.750/300946|C15.378.071.085.080.090/300946|C15.378.071.750.500/300946|C15.378.190.223.500.500.090/300946|C16.131.621.207.231.576/300946|C16.320.077.090/300946 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.131.621.207.231.576|C16.320.077.090 DBA14 Blood disease|Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS OMIM:606164 DO:DOID:0111894 MESH:D008342|MESH:D029503 C05.116.099.370.231.576/606164|C05.660.207.231.576/606164|C11.270.147.750/606164|C15.378.071.085.080.090/606164|C15.378.071.750.500/606164|C15.378.190.223.500.500.090/606164|C16.131.621.207.231.576/606164|C16.320.077.090/606164 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.131.621.207.231.576|C16.320.077.090 DBA15 Blood disease|Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease DIAMOND-BLACKFAN ANEMIA 16 OMIM:617408 DO:DOID:0111893 MESH:D029503 C15.378.071.085.080.090/617408|C15.378.071.750.500/617408|C15.378.190.223.500.500.090/617408|C16.320.077.090/617408 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA16 Blood disease|Genetic disease (inborn) DIAMOND-BLACKFAN ANEMIA 17 OMIM:617409 DO:DOID:0111880 MESH:D029503 C15.378.071.085.080.090/617409|C15.378.071.750.500/617409|C15.378.190.223.500.500.090/617409|C16.320.077.090/617409 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA17 Blood disease|Genetic disease (inborn) Diamond-Blackfan Anemia 4 MESH:C567281 DO:DOID:0111890|OMIM:612527 MESH:D029503 C15.378.071.085.080.090/C567281|C15.378.071.750.500/C567281|C15.378.190.223.500.500.090/C567281|C16.320.077.090/C567281 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA4 Blood disease|Genetic disease (inborn) Diamond-Blackfan Anemia 5 MESH:C567280 DO:DOID:0111883|OMIM:612528 MESH:D029503 C15.378.071.085.080.090/C567280|C15.378.071.750.500/C567280|C15.378.190.223.500.500.090/C567280|C16.320.077.090/C567280 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 Dba5 Blood disease|Genetic disease (inborn) DIAMOND-BLACKFAN ANEMIA 6 OMIM:612561 DO:DOID:0111879 MESH:D029503 C15.378.071.085.080.090/612561|C15.378.071.750.500/612561|C15.378.190.223.500.500.090/612561|C16.320.077.090/612561 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 AASE-SMITH SYNDROME II|DBA6 Blood disease|Genetic disease (inborn) Diamond-Blackfan Anemia 7 MESH:C567254 DO:DOID:0111878|OMIM:612562 MESH:D029503 C15.378.071.085.080.090/C567254|C15.378.071.750.500/C567254|C15.378.190.223.500.500.090/C567254|C16.320.077.090/C567254 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA7 Blood disease|Genetic disease (inborn) Diamond-Blackfan Anemia 8 MESH:C567253 DO:DOID:0111881|OMIM:612563 MESH:D029503 C15.378.071.085.080.090/C567253|C15.378.071.750.500/C567253|C15.378.190.223.500.500.090/C567253|C16.320.077.090/C567253 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA8 Blood disease|Genetic disease (inborn) Diamond-Blackfan Anemia 9 MESH:C567650 DO:DOID:0111884|OMIM:613308 MESH:D029503 C15.378.071.085.080.090/C567650|C15.378.071.750.500/C567650|C15.378.190.223.500.500.090/C567650|C16.320.077.090/C567650 C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.320.077.090 DBA9 Blood disease|Genetic disease (inborn) Diamond-Blackfan Anemia With Microtia And Cleft Palate MESH:C565256 MESH:D002972|MESH:D029503|MESH:D065817 C05.500.460.185/C565256|C05.660.207.540.460.185/C565256|C07.320.440.185/C565256|C07.465.525.185/C565256|C07.650.500.460.185/C565256|C07.650.525.185/C565256|C09.218.235/C565256|C15.378.071.085.080.090/C565256|C15.378.071.750.500/C565256|C15.378.190.223.500.500.090/C565256|C16.131.287/C565256|C16.131.621.207.540.460.185/C565256|C16.131.850.500.460.185/C565256|C16.131.850.525.185/C565256|C16.320.077.090/C565256 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C09.218.235|C15.378.071.085.080.090|C15.378.071.750.500|C15.378.190.223.500.500.090|C16.131.287|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.077.090 Blood disease|Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Dianzani autoimmune lymphoproliferative syndrome MESH:C535950 MESH:D056735 C15.604.515.138/C535950|C16.320.089/C535950|C20.111.288/C535950|C20.683.515.124/C535950 C15.604.515.138|C16.320.089|C20.111.288|C20.683.515.124 Autoimmune Lymphoproliferative Disease without Fas Mutations|Autoimmune lymphoproliferative syndrome without FAS mutations|Dianzani Autoimmune Lymphoproliferative Disease|Dianzani form of autoimmune lymphoproliferative disease Genetic disease (inborn)|Immune system disease|Lymphatic disease Diaper Rash MESH:D003963 A type of irritant dermatitis localized to the area in contact with a diaper and occurring most often as a reaction to prolonged contact with urine, feces, or retained soap or detergent. MESH:D017453 C17.800.174.255.400.250|C17.800.815.255.400.250 C17.800.174.255.400|C17.800.815.255.400 Diaper Rashes|Rash, Diaper|Rashes, Diaper Skin disease Diaphanospondylodysostosis MESH:C564305 OMIM:608022 MESH:D004413|MESH:D019465 C05.116.099.370/C564305|C05.660.207/C564305|C16.131.621.207/C564305 C05.116.099.370|C05.660.207|C16.131.621.207 Vertebral Ossification, Defect in, with Nephrogenic Rests Congenital abnormality|Musculoskeletal disease Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull MESH:C563380 MESH:D001848|MESH:D017880 C05.116.099/C563380|C05.660.585/C563380|C16.131.621.585/C563380 C05.116.099|C05.660.585|C16.131.621.585 Congenital abnormality|Musculoskeletal disease Diaphragmatic Eventration MESH:D003965 DO:DOID:10480 A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG. MESH:D004065 C06.198.257|C16.131.314.244 C06.198|C16.131.314 Diaphragm Eventration|Eventration, Diaphragmatic|Eventration of Diaphragm Congenital abnormality|Digestive system disease Diaphragmatic Hernia 1 MESH:C564188 MESH:D006548 C23.300.707.960.500/C564188 C23.300.707.960.500 Pathology (anatomical condition) Diaphragmatic Hernia 2 MESH:C565629 OMIM:222400 MESH:D006548 C23.300.707.960.500/C565629 C23.300.707.960.500 DIH2 Pathology (anatomical condition) Diaphragmatic Hernia 3 MESH:C565710 OMIM:610187 MESH:D006548 C23.300.707.960.500/C565710 C23.300.707.960.500 DIH3 Pathology (anatomical condition) Diaphragm, Complete Agenesis Of MESH:C564189 MESH:D006548 C23.300.707.960.500/C564189 C23.300.707.960.500 Pathology (anatomical condition) Diaphyseal medullary stenosis with malignant fibrous histiocytoma MESH:C536169 DO:DOID:0080664|OMIM:112250 MESH:D001848|MESH:D009386|MESH:D018219 C04.557.450.565.590.425.350/C536169|C04.700/C536169|C05.116.099/C536169|C16.320.700/C536169 C04.557.450.565.590.425.350|C04.700|C05.116.099|C16.320.700 BDMF|Bone dysplasia with malignant fibrous histiocytoma|Bone dysplasia with medullary fibrosarcoma|DMSMFH|MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY Cancer|Genetic disease (inborn)|Musculoskeletal disease Diarrhea MESH:D003967 OMIM:614616|OMIM:615863 An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight. MESH:D012817 C23.888.821.214 C23.888.821 DIAR6|DIAR7|DIARRHEA 6|DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE|Diarrheas Signs and symptoms Diarrhea 3, Secretory Sodium, Congenital MESH:C562576 OMIM:270420 MESH:D000015|MESH:D003967|MESH:D008661 C16.131.077/C562576|C16.320.565/C562576|C18.452.648/C562576|C23.888.821.214/C562576 C16.131.077|C16.320.565|C18.452.648|C23.888.821.214 CSD|DIAR3|Diarrhea 3, Secretory Sodium, Congenital, Syndromic|DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES|Sodium Diarrhea, Congenital Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Signs and symptoms Diarrhea 4, Malabsorptive, Congenital MESH:C563673 OMIM:610370 MESH:D003967|MESH:D008286 C06.405.469.637/C563673|C18.452.603/C563673|C23.888.821.214/C563673 C06.405.469.637|C18.452.603|C23.888.821.214 DIAR4|Enteric Anendocrinosis Digestive system disease|Metabolic disease|Signs and symptoms Diarrhea 5, With Tufting Enteropathy, Congenital MESH:C567703 OMIM:613217 MESH:D003968|MESH:D008286 C06.405.469.637/C567703|C18.452.603/C567703|C23.888.821.214.500/C567703 C06.405.469.637|C18.452.603|C23.888.821.214.500 CTE|DIAR5|Enteropathy, Congenital Tufting|Intestinal Epithelial Cell Dysplasia Digestive system disease|Metabolic disease|Signs and symptoms DIARRHEA 8, SECRETORY SODIUM, CONGENITAL OMIM:616868 DO:DOID:0060777 MESH:D003967 C23.888.821.214/616868 C23.888.821.214 CSD|DIAR8|DIARRHEA, CONGENITAL SODIUM Signs and symptoms Diarrhea, Chronic, with Villous Atrophy MESH:C564019 MESH:D003967 C23.888.821.214/C564019 C23.888.821.214 Signs and symptoms Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency MESH:C565099 MESH:D003967|MESH:D007153|MESH:D008661 C16.320.565/C565099|C18.452.648/C565099|C20.673/C565099|C23.888.821.214/C565099 C16.320.565|C18.452.648|C20.673|C23.888.821.214 Genetic disease (inborn)|Immune system disease|Metabolic disease|Signs and symptoms Diarrhea, Infantile MESH:D003968 DIARRHEA occurring in infants from newborn to 24-months old. MESH:D003967 C23.888.821.214.500 C23.888.821.214 Diarrheas, Infantile|Infantile Diarrhea|Infantile Diarrheas Signs and symptoms Diarrhea prodrome + Hemolytic-Uremic Syndrome MESH:C531700 MESH:D006463 C12.050.351.968.419.936.463/C531700|C12.200.777.419.936.463/C531700|C12.950.419.936.463/C531700|C15.378.071.141.610/C531700|C15.378.140.855.925.500/C531700 C12.050.351.968.419.936.463|C12.200.777.419.936.463|C12.950.419.936.463|C15.378.071.141.610|C15.378.140.855.925.500 Diarrhea prodrome + HUS Blood disease|Urogenital disease (female)|Urogenital disease (male) Diaschisis MESH:D000087505 Loss or decreased brain function within intact region of the brain distant from the site of the lesion. MESH:D001927 C10.228.140.390 C10.228.140 Connectional Diaschisis|Diaschisis, Connectional|Diaschisis, Focal|Focal Diaschisis Nervous system disease Diastasis, Bone MESH:D000070631 Abnormal separation of bones, often from a LIGAMENT. MESH:D004204 C05.550.518.192|C26.289.192 C05.550.518|C26.289 Bone Diastases|Bone Diastasis|Diastases, Bone Musculoskeletal disease|Wounds and injuries Diastasis, Muscle MESH:D000070630 Abnormal separation of muscles. MESH:D004204 C05.550.518.288|C26.289.288 C05.550.518|C26.289 Diastases, Muscle|Muscle Diastases|Muscle Diastasis|Myodiastases|Myodiastasis Musculoskeletal disease|Wounds and injuries Diastasis Recti And Weakness Of The Linea Alba MESH:C567402 MESH:D011535 C16.131.077.745/C567402 C16.131.077.745 Congenital abnormality Diastema MESH:D003970 An abnormal opening or fissure between two adjacent teeth. MESH:D014071 C07.650.800.320|C07.793.700.320|C16.131.850.800.320 C07.650.800|C07.793.700|C16.131.850.800 Diastemas|Diastemata Congenital abnormality|Mouth disease Diastema, Dental Medial MESH:C565098 MESH:D003970 C07.650.800.320/C565098|C07.793.700.320/C565098|C16.131.850.800.320/C565098 C07.650.800.320|C07.793.700.320|C16.131.850.800.320 Congenital abnormality|Mouth disease Diastrophic dysplasia MESH:C536170 DO:DOID:14687|OMIM:222600 MESH:D004392 C05.116.099.343/C536170|C16.320.240/C536170|C19.297/C536170 C05.116.099.343|C16.320.240|C19.297 DD DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED|Diastrophic dwarfism|DTD Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant MESH:C565626 MESH:D004392 C05.116.099.343/C565626|C16.320.240/C565626|C19.297/C565626 C05.116.099.343|C16.320.240|C19.297 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Dibasic Amino Aciduria I MESH:C567132 MESH:D000592 C16.320.565.100/C567132|C18.452.648.100/C567132 C16.320.565.100|C18.452.648.100 Genetic disease (inborn)|Metabolic disease Dicarboxylicaminoaciduria MESH:C536171 DO:DOID:0060650|OMIM:222730 MESH:D000608|MESH:D008607 C10.597.606.360/C536171|C12.050.351.968.419.815.885/C536171|C12.200.777.419.815.885/C536171|C12.950.419.815.885/C536171|C16.320.831.885/C536171|C23.888.592.604.646/C536171|F03.625.539/C536171 C10.597.606.360|C12.050.351.968.419.815.885|C12.200.777.419.815.885|C12.950.419.815.885|C16.320.831.885|C23.888.592.604.646|F03.625.539 DCBXA|Dicarboxylic amino aciduria|Dicarboxylic aminoaciduria|Dicarboxylicamino Aciduria|Glutamate and aspartate transport defect|Glutamate-Aspartate Transport Defect|Inborn error of glutamic and aspartate transport Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Dichuchwa MESH:C538405 MESH:D014211 C01.150.252.400.794.840/C538405|C01.150.252.400.840/C538405 C01.150.252.400.794.840|C01.150.252.400.840 Frenga|Njovera|Nonvenereal syphilis Bacterial infection or mycosis Dicrocoeliasis MESH:D004011 DO:DOID:1219 Infection with flukes of the genus Dicrocoelium. MESH:D014201 C01.610.335.865.224 C01.610.335.865 Dicrocoeliases Parasitic disease Dictyocaulus Infections MESH:D004022 Infection with nematodes of the genus DICTYOCAULUS. In deer, cattle, sheep, and horses the bronchi are the site of infestation. MESH:D006374|MESH:D014252 C01.610.335.349.315|C01.610.335.508.700.775.825.315|C01.610.701.377.315|C22.674.377.315 C01.610.335.349|C01.610.335.508.700.775.825|C01.610.701.377|C22.674.377 Dictyocauliases|Dictyocauliasis|Dictyocaulus Infection|Infection, Dictyocaulus|Infections, Dictyocaulus Animal disease|Parasitic disease Dientamoebiasis MESH:D004030 DO:DOID:946 Gastrointestinal infection with organisms of the genus DIENTAMOEBA. MESH:D007411|MESH:D011528 C01.610.432.275|C01.610.752.275|C06.405.469.452.275 C01.610.432|C01.610.752|C06.405.469.452 Dientamoeba fragilis Infection|Dientamoeba fragilis Infections|Dientamoeba Infection|Dientamoeba Infections|Dientamoebiases|Infection, Dientamoeba|Infection, Dientamoeba fragilis|Infections, Dientamoeba|Infections, Dientamoeba fragilis Digestive system disease|Parasitic disease Dieterich's disease MESH:C536172 MESH:D010020 C05.116.852/C536172|C23.550.717.732/C536172 C05.116.852|C23.550.717.732 Avascular necrosis of the metacarpal head|Dieterich disease Musculoskeletal disease|Pathology (process) Diffuse alopecia MESH:C531609 MESH:D000506 C17.800.329.937.122.147/C531609 C17.800.329.937.122.147 Alopecia Celsi|Cazenave's Vitiligo|Celsus' Vitiligo|Jonston's Alopecia|Marginal alopecia|Patchy alopecia Skin disease Diffuse Axonal Injury MESH:D020833 A relatively common sequela of blunt head injury, characterized by a global disruption of axons throughout the brain. Associated clinical features may include NEUROBEHAVIORAL MANIFESTATIONS; PERSISTENT VEGETATIVE STATE; DEMENTIA; and other disorders. MESH:D000070625 C10.228.140.199.388.500|C10.900.300.087.219.500|C26.915.300.200.188.500 C10.228.140.199.388|C10.900.300.087.219|C26.915.300.200.188 Axonal Injuries, Diffuse|Axonal Injury, Diffuse|DAI (Diffuse Axonal Injury)|DAIs (Diffuse Axonal Injury)|Diffuse Axonal Injuries|Injuries, Diffuse Axonal|Injury, Diffuse Axonal Nervous system disease|Wounds and injuries Diffuse Cerebral Sclerosis of Schilder MESH:D002549 DO:DOID:0060215|DO:DOID:0080122 A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73) MESH:D001927|MESH:D020278 C10.114.375.112|C10.228.140.400|C10.228.140.695.562.112|C10.314.350.112|C20.111.258.250.175 C10.114.375|C10.228.140|C10.228.140.695.562|C10.314.350|C20.111.258.250 Alper Disease|Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis|Alper's Disease|Alpers Disease|Alpers' Disease|Alpers Huttenlocher Syndrome|Alpers-Huttenlocher Syndrome|Alpers Progressive Infantile Poliodystrophy|Alper's Syndrome|Alpers Syndrome|Alpers' Syndrome|Alper Syndrome|Balo Concentric Sclerosis|Balo's Concentric Sclerosis|Cerebral Sclerosis, Diffuse|Concentric Sclerosis, Balo|Concentric Sclerosis, Balo's|Diffuse Cerebral Scleroses|Diffuse Cerebral Sclerosis|Diffuse Scleroses, Myelinoclastic|Diffuse Sclerosis, Myelinoclastic|Disease, Alpers'|Disease, Schilder|Disease, Schilder's|Encephalitis Periaxialis|Encephalitis Periaxialis Concentrica|Encephalitis Periaxialis Diffusa|Myelinoclastic Diffuse Scleroses|Myelinoclastic Diffuse Sclerosis|Neuronal Degeneration Of Childhood With Liver Disease, Progressive|Poliodystrophia Cerebri|Progressive Neuronal Degeneration of Childhood with Liver Disease|Progressive Sclerosing Poliodystrophies|Progressive Sclerosing Poliodystrophy|Schilder Disease|Schilder's Disease|Schilders Disease|Scleroses, Balo's Concentric|Scleroses, Myelinoclastic Diffuse|Sclerosis, Diffuse Cerebral|Sclerosis, Myelinoclastic Diffuse|Sudanophilic Cerebral Sclerosis|Syndrome, Alpers|Syndrome, Alpers-Huttenlocher Immune system disease|Nervous system disease Diffuse Intrinsic Pontine Glioma MESH:D000080443 A rare, aggressive brain tumor that forms in the GLIAL CELLS in the PONS. MESH:D005910|MESH:D020295 C04.557.465.625.600.380.185|C04.557.470.670.380.185|C04.557.580.625.600.380.185|C04.588.614.250.195.411.100.500|C10.228.140.211.500.100.500|C10.551.240.250.400.200.500 C04.557.465.625.600.380|C04.557.470.670.380|C04.557.580.625.600.380|C04.588.614.250.195.411.100|C10.228.140.211.500.100|C10.551.240.250.400.200 Brain Tumor, DIPG|DIPG Brain Tumor|DIPG Brain Tumors|DIPG, Diffuse Intrinsic Pontine Glioma Cancer|Nervous system disease Diffuse Lewy Body Disease with Gaze Palsy MESH:C565077 MESH:D015835|MESH:D020961 C10.228.140.079.862.400/C565077|C10.228.140.380.422/C565077|C10.228.662.600.200/C565077|C10.228.758/C565077|C10.292.562/C565077|C10.574.928.500/C565077|C11.590/C565077|F03.615.400.512/C565077 C10.228.140.079.862.400|C10.228.140.380.422|C10.228.662.600.200|C10.228.758|C10.292.562|C10.574.928.500|C11.590|F03.615.400.512 Eye disease|Mental disorder|Nervous system disease Diffuse Neurofibrillary Tangles with Calcification MESH:D055956 A form of presenile DEMENTIA characterized by cortical dementia, NEUROFIBRILLARY TANGLES without SENILE PLAQUES, Fahr's type CALCINOSIS, and ATROPHY in frontotemporal or TEMPORAL LOBE. MESH:D003704|MESH:D024801 C10.228.140.380.254|C10.574.945.374|F03.615.400.370 C10.228.140.380|C10.574.945|F03.615.400 Disease, Kosaka-Shibayama|Kosaka Shibayama Disease|Kosaka-Shibayama Disease Mental disorder|Nervous system disease Diffuse palmoplantar keratoderma, Bothnian type MESH:C536173 OMIM:600231 MESH:D015776 C16.320.850.475.440/C536173|C17.800.428.435.440/C536173|C17.800.827.475.440/C536173 C16.320.850.475.440|C17.800.428.435.440|C17.800.827.475.440 Palmoplantar keratoderma, Bothnian type|PPKB Genetic disease (inborn)|Skin disease Diffuse panbronchiolitis MESH:C536174 OMIM:604809 MESH:D001988|MESH:D006192 C01.150.252.400.700.433/C536174|C01.748.099.135/C536174|C08.127.446.135/C536174|C08.381.495.146.135/C536174|C08.730.099.135/C536174 C01.150.252.400.700.433|C01.748.099.135|C08.127.446.135|C08.381.495.146.135|C08.730.099.135 DPB|Panbronchiolitis, diffuse|PBLT Bacterial infection or mycosis|Respiratory tract disease DiGeorge Syndrome MESH:D004062 DO:DOID:11198|DO:DOID:12583|OMIM:188400|OMIM:192430 Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies. MESH:D058165 C05.660.207.103.500|C14.240.400.021.500|C14.280.400.044.500|C15.604.451.249.500|C16.131.077.019.500|C16.131.240.400.021.500|C16.131.260.019.500|C16.131.482.249.500|C16.131.621.207.103.500|C16.320.180.019.500|C19.642.482.500.500 C05.660.207.103|C14.240.400.021|C14.280.400.044|C15.604.451.249|C16.131.077.019|C16.131.240.400.021|C16.131.260.019|C16.131.482.249|C16.131.621.207.103|C16.320.180.019|C19.642.482.500 22q11.2 Deletion Syndrome|22q11.2DS|Autosomal Dominant Opitz G Bbb Syndrome|Autosomal Dominant Opitz G-Bbb Syndrome|Catch22|CATCH22, INCLUDED|CHROMOSOME 22q11.2 DELETION SYNDROME|Conotruncal Anomaly Face Syndrome|Conotruncal Anomaly Face Syndrome (CTAF)|Deletion 22q11.2 Syndrome|Deletion Syndrome, 22q11.2|DGCR, INCLUDED|DGS|DiGeorge Anomaly|DiGeorge Sequence|Familial Third and Fourth Pharyngeal Pouch Syndrome|Hypoplasia of Thymus and Parathyroids|Pharyngeal Pouch Syndrome|Sedlackova Syndrome|Shprintzen Syndrome|Shprintzen VCF Syndrome|Syndrome, DiGeorge|Syndrome, Sedlackova|Syndrome, Shprintzen|Syndrome, VCF|Syndrome, Velocardiofacial|Syndrome, Velo-Cardio-Facial|TAKAO VCF SYNDROME, INCLUDED|Third and Fourth Pharyngeal Pouch Syndrome|THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED|Thymic Aplasia Syndrome|VCFS|VCF Syndrome|Velocardiofacial Syndrome|Velo Cardio Facial Syndrome|Velo-Cardio-Facial Syndrome Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Lymphatic disease|Musculoskeletal disease Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 MESH:C563337 OMIM:601362 MESH:D004062 C05.660.207.103.500/C563337|C14.240.400.021.500/C563337|C14.280.400.044.500/C563337|C15.604.451.249.500/C563337|C16.131.077.019.500/C563337|C16.131.240.400.021.500/C563337|C16.131.260.019.500/C563337|C16.131.482.249.500/C563337|C16.131.621.207.103.500/C563337|C16.320.180.019.500/C563337|C19.642.482.500.500/C563337 C05.660.207.103.500|C14.240.400.021.500|C14.280.400.044.500|C15.604.451.249.500|C16.131.077.019.500|C16.131.240.400.021.500|C16.131.260.019.500|C16.131.482.249.500|C16.131.621.207.103.500|C16.320.180.019.500|C19.642.482.500.500 DGS2|DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME COMPLEX 2 Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Lymphatic disease|Musculoskeletal disease Digestive System Abnormalities MESH:D004065 Congenital structural abnormalities of the DIGESTIVE SYSTEM. MESH:D000013|MESH:D004066 C06.198|C16.131.314 C06|C16.131 Abnormalities, Digestive System|Abnormality, Digestive System|Digestive System Abnormality Congenital abnormality|Digestive system disease Digestive System Diseases MESH:D004066 DO:DOID:3118|DO:DOID:77 Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS). MESH:C C06 C Digestive System Disease|Digestive System Disorder|Digestive System Disorders|Hepatobiliary Disease|Hepatobiliary Diseases|Hepatobiliary Disorder|Hepatobiliary Disorders|System Disorders, Digestive Digestive system disease Digestive System Fistula MESH:D016154 An abnormal passage communicating between any components of the digestive system, or between any part of the digestive system and surrounding organ(s). MESH:D004066|MESH:D005402 C06.267|C23.300.575.185 C06|C23.300.575 Digestive System Fistulas|Fistula, Digestive System|Fistulas, Digestive System Digestive system disease|Pathology (anatomical condition) Digestive System Neoplasms MESH:D004067 DO:DOID:3119 Tumors or cancer of the DIGESTIVE SYSTEM. MESH:D004066|MESH:D009371 C04.588.274|C06.301 C04.588|C06 Cancer, Digestive System|Cancer of Digestive System|Cancer of the Digestive System|Cancers, Digestive System|Digestive System Cancer|Digestive System Cancers|Digestive System Neoplasm|Neoplasm, Digestive System|Neoplasms, Digestive System Cancer|Digestive system disease Digital Arthropathy-Brachydactyly, Familial MESH:C564656 OMIM:606835 MESH:D010003|MESH:D059327 C05.550.114.606/C564656|C05.660.585.262/C564656|C05.799.613/C564656|C16.131.621.585.262/C564656 C05.550.114.606|C05.660.585.262|C05.799.613|C16.131.621.585.262 FDAB Congenital abnormality|Musculoskeletal disease Digital Dermatitis MESH:D058066 Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (LAMENESS, ANIMAL). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. DICHELOBACTER NODOSUS and TREPONEMA are the most commonly associated causative agents for this mixed bacterial infection disease. MESH:D000820|MESH:D017192 C01.150.252.819.180|C01.800.720.180|C17.800.838.765.180|C22.214 C01.150.252.819|C01.800.720|C17.800.838.765|C22 Bovine Digital Dermatitides|Bovine Digital Dermatitis|Bovine Foot Wart|Bovine Foot Warts|Bovine Hairy Footwart|Bovine Hairy Footwarts|Dermatitides, Bovine Digital|Dermatitides, Digital|Dermatitis, Bovine Digital|Dermatitis, Digital|Digital Dermatitides|Digital Dermatitides, Bovine|Digital Dermatitides, Ovine|Digital Dermatitides, Papillomatous|Digital Dermatitis, Bovine|Digital Dermatitis, Ovine|Digital Dermatitis, Papillomatous|Digital Papillomatoses|Digital Papillomatosis|Foot Wart, Bovine|Footwart, Bovine Hairy|Foot Warts, Bovine|Footwarts, Bovine Hairy|Hairy Footwart, Bovine|Hairy Footwarts, Bovine|Ovine Digital Dermatitides|Ovine Digital Dermatitis|Papillomatoses, Digital|Papillomatosis, Digital|Papillomatous Digital Dermatitides|Papillomatous Digital Dermatitis|Wart, Bovine Foot|Warts, Bovine Foot Animal disease|Bacterial infection or mycosis|Skin disease digital ulcers MESH:C000721267 MESH:D012883 C17.800.893/C000721267 C17.800.893 Acral ulcer|Acral ulceration|acral ulcers|digital ulcer|Finger ulcer|Finger ulcers|Toe ulcer|Toe ulcers|Ulcers of toe Skin disease Digitorenocerebral Syndrome MESH:C563052 MESH:D006228|MESH:D006319|MESH:D008607|MESH:D009264|MESH:D019465 C05.390.408/C563052|C05.660.207/C563052|C05.660.585.988.425/C563052|C09.218.458.341.887/C563052|C10.597.606.360/C563052|C10.597.751.418.341.887/C563052|C16.131.621.207/C563052|C16.131.621.585.988.500/C563052|C23.300.820/C563052|C23.888.592.604.646/C563052|C23.888.592.763.393.341.887/C563052|F03.625.539/C563052 C05.390.408|C05.660.207|C05.660.585.988.425|C09.218.458.341.887|C10.597.606.360|C10.597.751.418.341.887|C16.131.621.207|C16.131.621.585.988.500|C23.300.820|C23.888.592.604.646|C23.888.592.763.393.341.887|F03.625.539 Brachydactyly due to Absence of Distal Phalanges|Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome|DOOR Syndrome|Eronen Syndrome Congenital abnormality|Ear-nose-throat disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Digitotalar Dysmorphism MESH:C565097 DO:DOID:0111596 MESH:D005532|MESH:D006228 C05.330.495/C565097|C05.390.408/C565097|C05.660.585.512.380/C565097|C05.660.585.988.425/C565097|C16.131.621.585.512.500/C565097|C16.131.621.585.988.500/C565097 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500 Ulnar Drift, Hereditary Congenital abnormality|Musculoskeletal disease Dihydropyrimidinase Deficiency MESH:C562815 DO:DOID:0111629|OMIM:222748 MESH:D008661 C16.320.565/C562815|C18.452.648/C562815 C16.320.565|C18.452.648 DIHYDROPYRIMIDINURIA|DPH Deficiency|DPYSD|DPYS Deficiency Genetic disease (inborn)|Metabolic disease Dihydropyrimidine Dehydrogenase Deficiency MESH:D054067 DO:DOID:14218|OMIM:274270 An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. MESH:D011686 C16.320.565.798.183|C18.452.648.798.183 C16.320.565.798|C18.452.648.798 Deficiencies, Dihydropyrimidine Dehydrogenase|Deficiencies, DPD|Deficiency, Dihydropyrimidine Dehydrogenase|Deficiency, DPD|Dehydrogenase Deficiencies, Dihydropyrimidine|Dehydrogenase Deficiency, Dihydropyrimidine|Dihydropyrimidine Dehydrogenase Deficiencies|Dihydropyrimidinuria|Dihydropyrimidinurias|DPD Deficiencies|DPD Deficiency|DPYD DEFICIENCY|Familial Pyrimidemia|Familial Pyrimidemias|Familial Pyrimidinemia|Familial Pyrimidinemias|Hereditary Thymine Uraciluria|Hereditary Thymine-Uraciluria|Hereditary Thymine-Uracilurias|Pyrimidemia, Familial|Pyrimidemias, Familial|Pyrimidinemia, Familial|PYRIMIDINEMIA, FAMILIAL 5-FLUOROURACIL TOXICITY, INCLUDED|Pyrimidinemias, Familial|Thymine Uraciluria, Hereditary|Thymine-Uraciluria, Hereditary|Thymine-Uracilurias, Hereditary Genetic disease (inborn)|Metabolic disease Dilatation, Pathologic MESH:D004108 The condition of an anatomical structure's being dilated beyond normal dimensions. MESH:D020763 C23.300.325 C23.300 Dilatation, Pathological|Dilatations, Pathologic|Dilatations, Pathological|Ectasia|Pathological Dilatation|Pathological Dilatations|Pathologic Dilatation|Pathologic Dilatations Pathology (anatomical condition) Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria MESH:C538496 MESH:D056889 C14.240.400.172/C538496|C14.280.400.172/C538496|C16.131.077.121/C538496|C16.131.240.400.172/C538496|C16.320.322.068/C538496|C16.320.565.398.224/C538496|C18.452.584.563.224/C538496|C18.452.648.398.224/C538496 C14.240.400.172|C14.280.400.172|C16.131.077.121|C16.131.240.400.172|C16.320.322.068|C16.320.565.398.224|C18.452.584.563.224|C18.452.648.398.224 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Metabolic disease Dilution, Pigmentary MESH:C566872 MESH:D016115 C11.270.040.545/C566872|C16.320.290.040.100/C566872|C16.320.565.100.102.100/C566872|C16.320.850.080.100/C566872|C17.800.621.440.102.100/C566872|C17.800.827.080.100/C566872|C18.452.648.100.102.100/C566872 C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100 Albinoidism, Oculocutaneous, Autosomal Dominant Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Dimauro disease MESH:C536176 OMIM:261670 MESH:D007674|MESH:D009135 C05.651/C536176|C10.668.491/C536176|C12.050.351.968.419/C536176|C12.200.777.419/C536176|C12.950.419/C536176 C05.651|C10.668.491|C12.050.351.968.419|C12.200.777.419|C12.950.419 Deficiency Mutase Phosphoglycerate|Glycogen Storage Disease X|Gsd10|Gsd X|Human muscle phosphoglycerate mutase deficiency|Myopathy due to phosphoglycerate mutase deficiency|Pgam Deficiency|PGAMM deficiency|Phosphoglycerate Mutase Deficiency|Phosphoglycerate Mutase, Muscle, Deficiency of Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Dimethylglycine Dehydrogenase Deficiency MESH:C565278 OMIM:605850 MESH:D000592 C16.320.565.100/C565278|C18.452.648.100/C565278 C16.320.565.100|C18.452.648.100 DMGDHD|DMGDH Deficiency Genetic disease (inborn)|Metabolic disease Dincsoy Salih Patel syndrome MESH:C536177 MESH:D000015|MESH:D007018 C10.228.140.617.738.300/C536177|C16.131.077/C536177|C19.700.482/C536177 C10.228.140.617.738.300|C16.131.077|C19.700.482 Dincsoy syndrome|Midline malformations, multiple, with limb abnormalities and hypopituitarism Congenital abnormality|Endocrine system disease|Nervous system disease Dipetalonema Infections MESH:D004154 DO:DOID:14422 Infections with nematodes of the genus DIPETALONEMA. MESH:D005368 C01.610.335.508.700.750.361.275 C01.610.335.508.700.750.361 Dipetalonema Infection|Dipetalonemiases|Dipetalonemiasis|Infection, Dipetalonema|Infections, Dipetalonema Parasitic disease Diphenylhydantoin, Defect in Hydroxylation of MESH:C565044 MESH:D008661 C16.320.565/C565044|C18.452.648/C565044 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Diphtheria MESH:D004165 A localized infection of mucous membranes or skin caused by toxigenic strains of CORYNEBACTERIUM DIPHTHERIAE. It is characterized by the presence of a pseudomembrane at the site of infection. DIPHTHERIA TOXIN, produced by C. diphtheriae, can cause myocarditis, polyneuritis, and other systemic toxic effects. MESH:D003354 C01.150.252.410.040.246.388 C01.150.252.410.040.246 Corynebacterium diphtheriae Infection|Corynebacterium diphtheriae Infections|Infection, Corynebacterium diphtheriae Bacterial infection or mycosis Diphyllobothriasis MESH:D004169 DO:DOID:10075 Infection with tapeworms of the genus Diphyllobothrium. MESH:D002590 C01.610.335.190.304 C01.610.335.190 Diphyllobothriases|Diphyllobothrium Infection|Diphyllobothrium Infections|Infection, Diphyllobothrium Parasitic disease Diploid-Triploid Mosaicism MESH:C548012 MESH:D011123 C23.550.210.702/C548012 C23.550.210.702 Pathology (process) Diplopia MESH:D004172 A visual symptom in which a single object is perceived by the visual cortex as two objects rather than one. Disorders associated with this condition include REFRACTIVE ERRORS; STRABISMUS; OCULOMOTOR NERVE DISEASES; TROCHLEAR NERVE DISEASES; ABDUCENS NERVE DISEASES; and diseases of the BRAIN STEM and OCCIPITAL LOBE. MESH:D014786 C10.597.751.941.339|C11.966.339|C23.888.592.763.941.339 C10.597.751.941|C11.966|C23.888.592.763.941 Cortical Diplopia|Cortical Diplopias|Diplopia, Cortical|Diplopia, Horizontal|Diplopia, Intermittent|Diplopia, Monocular|Diplopia, Refractive|Diplopias|Diplopias, Cortical|Diplopias, Horizontal|Diplopias, Intermittent|Diplopias, Monocular|Diplopias, Refractive|Diplopias, Unilateral|Diplopias, Vertical|Diplopia, Unilateral|Diplopia, Vertical|Double Vision|Horizontal Diplopia|Horizontal Diplopias|Intermittent Diplopia|Intermittent Diplopias|Monocular Diplopia|Monocular Diplopias|Polyopsia|Polyopsias|Refractive Diplopia|Refractive Diplopias|Unilateral Diplopia|Unilateral Diplopias|Vertical Diplopia|Vertical Diplopias|Vision, Double Eye disease|Nervous system disease|Signs and symptoms Dipsogenic Diabetes Insipidus MESH:C548013 DO:DOID:0081058 MESH:D003919 C12.050.351.968.419.135/C548013|C12.200.777.419.135/C548013|C12.950.419.135/C548013|C19.700.159/C548013 C12.050.351.968.419.135|C12.200.777.419.135|C12.950.419.135|C19.700.159 Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Dirofilariasis MESH:D004184 DO:DOID:1082 Infection with nematodes of the genus DIROFILARIA, usually in animals, especially dogs, but occasionally in man. MESH:D005368|MESH:D006374 C01.610.335.349.320|C01.610.335.508.700.750.361.290|C01.610.701.377.320|C22.674.377.320 C01.610.335.349|C01.610.335.508.700.750.361|C01.610.701.377|C22.674.377 Dirofilariases|Disease, Heartworm|Heartworm Disease Animal disease|Parasitic disease Discitis MESH:D015299 DO:DOID:10986 Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others. MESH:D013166 C01.160.762.301|C05.116.165.762.301|C05.116.900.853.500 C01.160.762|C05.116.165.762|C05.116.900.853 Discitides|Diskitides|Diskitis|Spondylodiscitides|Spondylodiscitis|Spondylodiskitides|Spondylodiskitis Musculoskeletal disease Discrete Subaortic Stenosis MESH:D021922 DO:DOID:5804 A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. MESH:D001020 C14.280.484.048.750.070.210|C14.280.955.249.070.210 C14.280.484.048.750.070|C14.280.955.249.070 Discrete Subaortic Stenoses|Stenoses, Discrete Subaortic|Stenosis, Discrete Subaortic|Subaortic Stenoses, Discrete|Subaortic Stenosis, Discrete Cardiovascular disease Disease MESH:D004194 DO:DOID:4 A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. MESH:D010335 C23.550.288 C23.550 Diseases Pathology (process) Disease Attributes MESH:D020969 Clinical characteristics of disease or illness. MESH:D010335 C23.550.291 C23.550 Attribute, Disease|Attributes, Disease|Disease Attribute Pathology (process) Disease Models, Animal MESH:D004195 Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases. MESH:D000820 C22.232 C22 Animal Disease Model|Animal Disease Models|Disease Model, Animal Animal disease Disease Progression MESH:D018450 The worsening and general progression of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis. MESH:D020969 C23.550.291.656 C23.550.291 Clinical Course|Clinical Progression|Disease Exacerbation|Exacerbation, Disease|Progression, Clinical|Progression, Disease Pathology (process) Disease Resistance MESH:D060467 The capacity of an organism to defend itself against pathological processes or the agents of those processes. This most often involves innate immunity whereby the organism responds to pathogens in a generic way. The term disease resistance is used most frequently when referring to plants. MESH:D020969 C23.550.291.671 C23.550.291 Disease Resistances|Resistance, Disease|Resistances, Disease Pathology (process) Diseases MESH:C C Diseases in Twins MESH:D004200 Disorders affecting TWINS, one or both, at any age. MESH:D020969 C23.550.291.750 C23.550.291 Diseases in Twin|in Twin, Diseases|in Twins, Diseases|Twin, Diseases in|Twins, Diseases in Pathology (process) Disease Susceptibility MESH:D004198 A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. MESH:D020969 C23.550.291.687 C23.550.291 Diatheses|Diathesis|Disease Susceptibilities|Susceptibilities, Disease|Susceptibility, Disease Pathology (process) Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation MESH:C566408 MESH:D002386|MESH:D003638|MESH:D008607|MESH:D008831|MESH:D012600 C05.116.900.800.875/C566408|C05.660.207.620/C566408|C09.218.458.341.186/C566408|C10.500.507.400.500/C566408|C10.597.606.360/C566408|C10.597.751.418.341.186/C566408|C11.510.245/C566408|C16.131.621.207.620/C566408|C16.131.666.507.400.500/C566408|C23.888.592.604.646/C566408|C23.888.592.763.393.341.186/C566408|F03.625.539/C566408 C05.116.900.800.875|C05.660.207.620|C09.218.458.341.186|C10.500.507.400.500|C10.597.606.360|C10.597.751.418.341.186|C11.510.245|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.604.646|C23.888.592.763.393.341.186|F03.625.539 Congenital abnormality|Ear-nose-throat disease|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism MESH:C563315 OMIM:601450 MESH:D006618|MESH:D007593|MESH:D019066 C05.550.521/C563315|C05.660.297.500/C563315|C16.131.621.297.500/C563315|C16.131.621.449/C563315|C23.550.291.812/C563315 C05.550.521|C05.660.297.500|C16.131.621.297.500|C16.131.621.449|C23.550.291.812 Hip, Congenital Dislocation of, with Hyperextensibility of Fingers and Facial Dysmorphism Congenital abnormality|Musculoskeletal disease|Pathology (process) Disorder of Sex Development, 46,XY MESH:D058490 OMIM:612965 Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical. MESH:D012734 C12.050.351.875.253.096|C12.200.706.316.096|C12.800.316.096|C16.131.939.316.096|C19.391.119.096 C12.050.351.875.253|C12.200.706.316|C12.800.316|C16.131.939.316|C19.391.119 46,XY Disorders of Sex Development|46, XY Disorders of Sex Development|46,XY DSD|46, XY DSD|46,XY DSDs|46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure|46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE|46,XY Sex Reversal 3|46,XY Sex Reversal, Partial or Complete, NR5A1-Related|DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED|DSD, 46,XY|DSDs, 46,XY|Male Pseudohermaphroditism|Male Pseudohermaphroditisms|Pseudohermaphroditism, Male|Pseudohermaphroditisms, Male|Sex Reversal, XY, With Or Without Adrenal Failure|SRXY3 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Disorders of Environmental Origin MESH:D007280 Disorders caused by external forces rather than by physiologic dysfunction or by pathogens. MESH:C C21 C Environmental origin disorders Disorders of Excessive Somnolence MESH:D006970 DO:DOID:8619 Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., IDIOPATHIC HYPERSOMNOLENCE; NARCOLEPSY; and KLEINE-LEVIN SYNDROME) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, MENTAL DISORDERS, and SLEEP APNEA SYNDROME). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320) MESH:D020919 C10.886.425.800.200|F03.870.400.800.200 C10.886.425.800|F03.870.400.800 Daytime Sleepiness|Daytime Sleepinesses|Daytime Sleepiness, Excessive|Daytime Somnolence|Daytime Somnolences|DOES (Disorders of Excessive Somnolence)|DOESs (Disorders of Excessive Somnolence)|Excessive Daytime Sleepiness|Excessive Daytime Sleepinesses|Excessive Somnolence Disorder|Excessive Somnolence Disorders|Hypersomnia|Hypersomnia Disorder, Primary|Hypersomnia Disorder, Secondary|Hypersomnia, Recurrent|Hypersomnias|Hypersomnolence|Hypersomnolence Disorder|Hypersomnolence Disorder, Primary|Hypersomnolence Disorders|Hypersomnolence Disorder, Secondary|Hypersomnolence Disorders, Primary|Hypersomnolence Disorders, Secondary|Primary Hypersomnia Disorder|Primary Hypersomnia Disorders|Primary Hypersomnolence Disorder|Primary Hypersomnolence Disorders|Recurrent Hypersomnia|Recurrent Hypersomnias|Secondary Hypersomnia Disorder|Secondary Hypersomnia Disorders|Secondary Hypersomnolence Disorder|Secondary Hypersomnolence Disorders|Sleepiness, Daytime|Sleepiness, Excessive Daytime|Somnolence, Daytime|Somnolence Disorder, Excessive Mental disorder|Nervous system disease Disorders of Sex Development MESH:D012734 DO:DOID:1923|DO:DOID:3763|DO:DOID:3765 In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. MESH:D006058|MESH:D014564 C12.050.351.875.253|C12.200.706.316|C12.800.316|C16.131.939.316|C19.391.119 C12.050.351.875|C12.200.706|C12.800|C16.131.939|C19.391 Ambiguities, Genital|Ambiguity, Genital|Ambiguous Genitalia|Condition, Intersex|Conditions, Intersex|Differentiation Disorder, Sex|Differentiation Disorder, Sexual|Differentiation Disorders, Sex|Differentiation Disorders, Sexual|Disorder, Sex Differentiation|Disorder, Sexual Differentiation|Disorders of Sexual Development|Disorders, Sex Differentiation|Disorders, Sexual Differentiation|Genital Ambiguities|Genital Ambiguity|Genitalia, Ambiguous|Hermaphroditism|Intersex Condition|Intersex Conditions|Intersexualities|Intersexuality|Pseudohermaphroditism|Sex Development Disorder|Sex Development Disorders|Sex Differentiation Disorder|Sex Differentiation Disorders|Sexual Development Disorder|Sexual Development Disorders|Sexual Differentiation Disorder|Sexual Differentiation Disorders Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Disproportionate Short Stature with Ptosis and Valvular Heart Lesions MESH:C565094 MESH:D001763|MESH:D004392|MESH:D006349|MESH:D019066 C05.116.099.343/C565094|C11.338.204/C565094|C14.280.484/C565094|C16.320.240/C565094|C19.297/C565094|C23.550.291.812/C565094 C05.116.099.343|C11.338.204|C14.280.484|C16.320.240|C19.297|C23.550.291.812 Cardiovascular disease|Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Disruptive, Impulse Control, and Conduct Disorders MESH:D007174 DO:DOID:10937|DO:DOID:12400|DO:DOID:12401 Disorders whose essential features are the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the individual or to others. Individuals experience an increased sense of tension prior to the act and pleasure, gratification or release of tension at the time of committing the act. MESH:D001523 F03.250 F03 Disorders, Impulse Control|Disorders, Intermittent Explosive|Explosive Disorder, Intermittent|Impulse Control Disorders|Impulse-Control Disorders|Intermittent Explosive Disorder|Intermittent Explosive Disorders|Kleptomania Mental disorder Dissection, Abdominal Aorta MESH:D000094631 Dissection or a tear of the ABDOMINAL AORTA. It includes thoracoabdominal aortic dissection at the aortic hiatus. MESH:D000784 C14.907.055.448.250.064|C14.907.109.070.500.064 C14.907.055.448.250|C14.907.109.070.500 Abdominal Aorta Dissection|Abdominal Aorta Dissections|Abdominal Aortic Dissection|Abdominal Aortic Dissections|Aorta Dissection, Abdominal|Aorta Dissection, Thoracoabdominal|Aortic Dissection, Abdominal|Aortic Dissection, Thoracoabdominal|Dissection, Abdominal Aortic|Dissection, Thoracoabdominal Aorta|Dissection, Thoracoabdominal Aortic|Thoracoabdominal Aorta Dissection|Thoracoabdominal Aorta Dissections|Thoracoabdominal Aortic Dissection|Thoracoabdominal Aortic Dissections Cardiovascular disease Dissection, Ascending Aorta MESH:D000094630 MESH:D000094629 C14.907.055.448.250.128.500|C14.907.109.070.500.128.500 C14.907.055.448.250.128|C14.907.109.070.500.128 Aorta Dissection, Ascending|Aortic Dissection, Ascending|Aortic Root Dissection|Aortic Root Dissections|Ascending Aorta Dissection|Ascending Aorta Dissections|Ascending Aortic Dissection|Ascending Aortic Dissections|Dissection, Aortic Root|Dissection, Ascending Aortic|Root Dissection, Aortic Cardiovascular disease Dissection, Blood Vessel MESH:D000094665 A tear or separation of the layers by a blood vessel typically involving vessels under pressure, i.e., ARTERIES, e.g., AORTA. Tearing of the TUNICA INTIMA layer of a blood vessel may lead to interstitial HEMORRHAGE. Dissection between the tunica intima and TUNICA MEDIA causes luminal occlusion. Dissection at the media, or between the media and the outer ADVENTITIA causes aneurismal dilation. MESH:D000783 C14.907.055.448 C14.907.055 Arterial Dissection|Arterial Dissections|Arteries, Dissection|Artery, Dissection|Blood Vessel Dissection|Dissection, Arterial|Dissection Arteries|Dissection Artery Cardiovascular disease Dissection, Thoracic Aorta MESH:D000094629 Dissection or a tear of the THORACIC AORTA. It includes aortic root dissection, ascending aortic dissection, aortic arch dissection and descending thoracic aortic dissection. MESH:D000784 C14.907.055.448.250.128|C14.907.109.070.500.128 C14.907.055.448.250|C14.907.109.070.500 Aorta Dissection, Descending|Aorta Dissection, Thoracic|Aortic Arch Dissection|Aortic Arch Dissections|Aortic Dissection, Thoracic|Arch Dissection, Aortic|Descending Aorta Dissection|Descending Aorta Dissections|Descending Thoracic Aortic Dissection|Dissection, Aortic Arch|Dissection, Descending Aorta|Dissection, Descending Thoracic Aorta|Dissections, Aortic Arch|Dissection, Thoracic Aortic|Thoracic Aorta Dissection|Thoracic Aorta Dissections|Thoracic Aortic Dissection|Thoracic Aortic Dissections Cardiovascular disease Disseminated Intravascular Coagulation MESH:D004211 DO:DOID:11247 A disorder characterized by procoagulant substances entering the general circulation causing a systemic thrombotic process. The activation of the clotting mechanism may arise from any of a number of disorders. A majority of the patients manifest skin lesions, sometimes leading to PURPURA FULMINANS. MESH:D001778|MESH:D006474|MESH:D019851 C15.378.100.220|C15.378.463.250|C15.378.925.220 C15.378.100|C15.378.463|C15.378.925 Coagulation, Disseminated Intravascular|Coagulation, Intravascular Disseminated|Coagulations, Disseminated Intravascular|Coagulations, Intravascular Disseminated|Coagulopathies, Consumption|Coagulopathy, Consumption|Consumption Coagulopathies|Consumption Coagulopathy|Disseminated Coagulation, Intravascular|Disseminated Coagulations, Intravascular|Disseminated Intravascular Coagulations|Intravascular Coagulation, Disseminated|Intravascular Coagulations, Disseminated|Intravascular Disseminated Coagulation|Intravascular Disseminated Coagulations Blood disease Disseminated Sclerosis with Narcolepsy MESH:C565621 MESH:D009103|MESH:D009290 C10.114.375.500/C565621|C10.314.350.500/C565621|C10.886.425.800.200.750/C565621|C20.111.258.250.500/C565621|F03.870.400.800.200.750/C565621 C10.114.375.500|C10.314.350.500|C10.886.425.800.200.750|C20.111.258.250.500|F03.870.400.800.200.750 Immune system disease|Mental disorder|Nervous system disease Dissociative Disorders MESH:D004213 DO:DOID:10935 Sudden temporary alterations in the normally integrative functions of consciousness. MESH:D001523 F03.300 F03 Disorder, Dissociative|Disorders, Dissociative|Dissociation|Dissociative Disorder|Dissociative Hysteria|Dissociative Reaction|Dissociative Reactions|Fugue|Hysteria, Dissociative|Hysterias, Dissociative|Reaction, Dissociative|Reactions, Dissociative Mental disorder Dissociative Identity Disorder MESH:D009105 DO:DOID:10934 A dissociative disorder in which the individual adopts two or more distinct personalities. Each personality is a fully integrated and complex unit with memories, behavior patterns and social friendships. Transition from one personality to another is sudden. MESH:D004213 F03.300.500 F03.300 Disorder, Dissociative Identity|Disorder, Multiple Identity|Disorder, Multiple Personality|Dual Personality|Identity Disorder, Dissociative|Identity Disorder, Multiple|Multiple Identity Disorder|Multiple Identity Disorders|Multiple Personalities|Multiple Personality|Multiple Personality Disorder|Multiple Personality Disorders|Personalities, Dual|Personalities, Multiple|Personality Disorder, Multiple|Personality Disorders, Multiple|Personality, Dual|Personality, Multiple Mental disorder Distal arthrogryposis Moore Weaver type MESH:C536814 MESH:D001176 C05.550.150/C536814|C05.651.102/C536814|C05.660.077/C536814|C16.131.621.077/C536814 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Moore Weaver syndrome Congenital abnormality|Musculoskeletal disease Distal arthrogryposis type 2B MESH:C538400 DO:DOID:0111599|OMIM:601680 MESH:D001176 C05.550.150/C538400|C05.651.102/C538400|C05.660.077/C538400|C16.131.621.077/C538400 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Arthrogryposis, distal, type 2b|ARTHROGRYPOSIS, DISTAL, TYPE 2B1|Arthrogryposis multiplex congenita, distal, type 2b|Arthrogryposis Multiplex Congenita, Distal, Type II, with Craniofacial Abnormalities|Arthrogryposis multiplex congenita type 2B|DA2B1|Freeman-Sheldon Syndrome Variant|FSSV|Sheldon-Hall syndrome|SHS Congenital abnormality|Musculoskeletal disease Distal Hereditary Motor Neuropathy, Type II MESH:C580044 DO:DOID:0111206 MESH:D009134 C10.228.854.468/C580044|C10.574.562.500/C580044|C10.668.467.500/C580044 C10.228.854.468|C10.574.562.500|C10.668.467.500 Nervous system disease Distal Myopathies MESH:D049310 DO:DOID:0111078|DO:DOID:11720|OMIM:160500|OMIM:600334 A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive. MESH:D009136 C05.651.534.500.074|C10.668.491.175.500.074|C16.320.577.074 C05.651.534.500|C10.668.491.175.500|C16.320.577 Distal 1 Myopathies|Distal 1 Myopathy|Distal Muscular Dystrophies|Distal Muscular Dystrophy|Distal Myopathy|Distal Myopathy 1|Distal Myopathy 1s|Distal Myopathy, Laing|Distal Myopathy Markesbery Griggs Type|Distal Myopathy Markesbery-Griggs Type|Distal Myopathy, Udd|Distal Myopathy, Welander|Finnish Markesbery Muscular Dystrophy|Finnish-Markesbery Muscular Dystrophy|Laing Distal Myopathy|Laing Early Onset Distal Myopathy|Laing Early-Onset Distal Myopathy|MPD1|Muscular Dystrophies, Distal|Muscular Dystrophies, Tibial|Muscular Dystrophy, Distal|Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant|Muscular Dystrophy, Finnish-Markesbery|Muscular Dystrophy, Tibial|Muscular Dystrophy, Udd-Markesbery|Myopathies, Distal|Myopathies, Distal 1|Myopathy 1, Distal|Myopathy 1s, Distal|Myopathy, Distal|Myopathy, Distal 1|MYOPATHY, DISTAL, 1|Myopathy, Distal, Early-Onset, Autosomal Dominant|Myopathy, Distal, Swedish|Myopathy, Laing Distal|Myopathy, Late Distal Hereditary|Myopathy, Udd|Myopathy, Udd Distal|Tardive Tibial Muscular Dystrophy|Tibial Muscular Dystrophy|Tibial Muscular Dystrophy, Tardive|TMD|Udd Distal Myopathy|Udd Markesbery Muscular Dystrophy|Udd-Markesbery Muscular Dystrophy|Udd Myopathy|Welander Distal Myopathy Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Distal myopathy, Nonaka type MESH:C536816 DO:DOID:0080718|OMIM:605820|OMIM:617158 MESH:D049310 C05.651.534.500.074/C536816|C10.668.491.175.500.074/C536816|C16.320.577.074/C536816 C05.651.534.500.074|C10.668.491.175.500.074|C16.320.577.074 Distal Myopathy with Rimmed Vacuoles|DMRV|GNE MYOPATHY|Hereditary Inclusion Body Myopathy|HIBM|Ibm2|IBM2, FORMERLY|Inclusion Body Myopathy 2|INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE, FORMERLY|INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE|INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING|MSP4|MULTISYSTEM PROTEINOPATHY 4|MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES|Myopathy, distal, with rimmed vacuoles|NM|Nonaka distal myopathy|Nonaka Myopathy|QSM|Rimmed Vacuole Myopathy Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Distal Osteosclerosis MESH:C565093 MESH:D010026 C05.116.099.708.702/C565093 C05.116.099.708.702 Osteosclerosis, Distal Musculoskeletal disease Distal Trisomy 10q Syndrome MESH:C538087 MESH:D014314|MESH:D025063 C16.131.260/C538087|C16.320.180/C538087|C23.550.210.050.750/C538087|C23.550.210.182.500/C538087 C16.131.260|C16.320.180|C23.550.210.050.750|C23.550.210.182.500 Chromosome 10, distal trisomy 10q|Chromosome 10, Partial Trisomy 10q24-qter|Chromosome 10, Trisomy 10q2|Distal Duplication 10q Congenital abnormality|Genetic disease (inborn)|Pathology (process) Distemper MESH:D004216 A name for several highly contagious viral diseases of animals, especially canine distemper. In dogs, it is caused by the canine distemper virus (DISTEMPER VIRUS, CANINE). It is characterized by a diphasic fever, leukopenia, gastrointestinal and respiratory inflammation and sometimes, neurologic complications. In cats it is known as FELINE PANLEUKOPENIA. MESH:D004283|MESH:D018185 C01.925.782.580.600.500.285|C22.268.265 C01.925.782.580.600.500|C22.268 Canine Distemper|Canine Distempers|Distemper, Canine|Distempers|Distempers, Canine Animal disease|Viral disease Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature MESH:C565092 MESH:D006330|MESH:D054079 C14.240.400/C565092|C14.240.850/C565092|C14.280.400/C565092|C16.131.240.400/C565092|C16.131.240.850/C565092 C14.240.400|C14.240.850|C14.280.400|C16.131.240.400|C16.131.240.850 Cardiovascular disease|Congenital abnormality Diurnal Enuresis MESH:D053207 Involuntary discharge of URINE during the daytime while one is awake. MESH:D004775 C12.050.351.968.934.252.249|C12.200.777.934.284.249|C12.950.934.252.249|F03.388.400.249 C12.050.351.968.934.252|C12.200.777.934.284|C12.950.934.252|F03.388.400 Daytime Urinary Incontinence|Daytime Wetting|Enuresis, Diurnal|Incontinence, Daytime Urinary|Urinary Incontinence, Daytime|Wetting, Daytime Mental disorder|Urogenital disease (female)|Urogenital disease (male) Diverticular Diseases MESH:D000076385 Diseases of the DIVERTICULUM often due to infection and/or inflammation (DIVERTICULITIS). MESH:D005759 C06.405.205.282 C06.405.205 Diverticular Bleeding|Diverticular Bleedings|Diverticular Disease Digestive system disease Diverticulitis MESH:D004238 DO:DOID:7475 Inflammation of a DIVERTICULUM or diverticula. MESH:D000076385 C06.405.205.282.500 C06.405.205.282 Diverticulitides Digestive system disease Diverticulitis, Colonic MESH:D004239 DO:DOID:13254 Inflammation of the COLONIC DIVERTICULA, generally with abscess formation and subsequent perforation. MESH:D004238|MESH:D043963 C06.405.205.282.500.250|C06.405.469.158.587.500 C06.405.205.282.500|C06.405.469.158.587 Colonic Diverticulitis Digestive system disease Diverticulosis, Colonic MESH:D043963 A pathological condition characterized by the presence of a number of COLONIC DIVERTICULA in the COLON. Its pathogenesis is multifactorial, including colon aging, motor dysfunction, increases in intraluminal pressure, and lack of dietary fibers. MESH:D003108 C06.405.469.158.587 C06.405.469.158 Colonic Diverticulosis Digestive system disease Diverticulosis, Esophageal MESH:D045723 DO:DOID:13185 A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS. MESH:D004238|MESH:D004935 C06.405.117.136|C06.405.205.282.500.438 C06.405.117|C06.405.205.282.500 Esophageal Diverticulosis Digestive system disease Diverticulosis of Bowel, Hernia, and Retinal Detachment MESH:C565619 MESH:D012163|MESH:D043963|MESH:D046449 C06.405.469.158.587/C565619|C11.768.648/C565619|C23.300.707.374/C565619 C06.405.469.158.587|C11.768.648|C23.300.707.374 Digestive system disease|Eye disease|Pathology (anatomical condition) Diverticulosis, Small Intestinal MESH:C565620 MESH:D004240 C06.405.205.282.750/C565620|C23.300.415/C565620 C06.405.205.282.750|C23.300.415 Digestive system disease|Pathology (anatomical condition) Diverticulosis, Stomach MESH:D045724 DO:DOID:4370 A pathological condition characterized by the presence of a number of GASTRIC DIVERTICULA in the STOMACH. MESH:D004238|MESH:D013272 C06.405.205.282.500.625|C06.405.748.142 C06.405.205.282.500|C06.405.748 Diverticulosis, Gastric|Gastric Diverticulosis|Stomach Diverticulosis Digestive system disease Diverticulum MESH:D004240 A pouch or sac developed from a tubular or saccular organ, such as the GASTROINTESTINAL TRACT. MESH:D000076385|MESH:D020763 C06.405.205.282.750|C23.300.415 C06.405.205.282|C23.300 Diverticula|Diverticulosis Digestive system disease|Pathology (anatomical condition) Diverticulum, Colon MESH:D004241 A pouch or sac opening from the COLON. MESH:D004240 C06.405.205.282.750.500|C23.300.415.500 C06.405.205.282.750|C23.300.415 Colon Diverticula|Colon Diverticulum|Colonic Diverticula|Colonic Diverticulum|Diverticula, Colon|Diverticula, Colonic|Diverticulum, Colonic Digestive system disease|Pathology (anatomical condition) Diverticulum, Esophageal MESH:D004936 Saccular protrusion beyond the wall of the ESOPHAGUS. MESH:D004240 C06.405.205.282.750.625|C23.300.415.625 C06.405.205.282.750|C23.300.415 Diverticula, Esophageal|Esophageal Diverticula|Esophageal Diverticulum Digestive system disease|Pathology (anatomical condition) Diverticulum, Stomach MESH:D013273 Saccular, outward protrusion of all or a portion of the wall of the STOMACH. MESH:D004240 C06.405.205.282.750.687|C23.300.415.687 C06.405.205.282.750|C23.300.415 Diverticula, Gastric|Diverticula, Stomach|Diverticulum, Gastric|Gastric Diverticula|Gastric Diverticulum|Stomach Diverticula|Stomach Diverticulum Digestive system disease|Pathology (anatomical condition) Dizziness MESH:D004244 An imprecise term which may refer to a sense of spatial disorientation, motion of the environment, or lightheadedness. MESH:D012678 C23.888.592.763.237 C23.888.592.763 Dizzyness|Lightheadedness|Light Headedness|Light-Headedness|Orthostasis Signs and symptoms DK Phocomelia Syndrome MESH:C565618 MESH:D000015|MESH:D004480|MESH:D004677|MESH:D013921|MESH:D014564 C05.660.585.350/C565618|C10.500.680.488/C565618|C12.050.351.875/C565618|C12.200.706/C565618|C12.800/C565618|C15.378.140.855/C565618|C16.131.077/C565618|C16.131.621.585.350/C565618|C16.131.666.680.488/C565618|C16.131.939/C565618|C23.300.707.186/C565618 C05.660.585.350|C10.500.680.488|C12.050.351.875|C12.200.706|C12.800|C15.378.140.855|C16.131.077|C16.131.621.585.350|C16.131.666.680.488|C16.131.939|C23.300.707.186 Phocomelia, Thrombocytopenia, Encephalocele, Urogenital Malformations|Von Voss-Cherstvoy Syndrome Blood disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Dmd-Associated Dilated Cardiomyopathy MESH:C580047 DO:DOID:0110461 MESH:D002311 C14.280.195.160/C580047|C14.280.238.070/C580047|C16.320.488.750/C580047 C14.280.195.160|C14.280.238.070|C16.320.488.750 Cmd3b|Dilated Cardiomyopathy 3b|Dmd-Related Dilated Cardiomyopathy|X-Linked Dilated Cardiomyopathy Cardiovascular disease|Genetic disease (inborn) DNA Degradation, Necrotic MESH:D053836 The random catabolism of DNA accompanying the irreversible damage to tissue which leads to the pathological death of one or more cells. MESH:D009336 C23.550.717.273 C23.550.717 Necrotic DNA Degradation Pathology (process) DNA Repair-Deficiency Disorders MESH:D049914 Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. MESH:D008659 C18.452.284 C18.452 Chromosome Instability Syndrome|Chromosome Instability Syndromes|Deficient DNA Repair|Deficient DNA Repairs|Disorder, DNA Repair-Deficiency|Disorders, DNA Repair-Deficiency|DNA Repair-Deficiencies|DNA Repair Deficiency|DNA Repair-Deficiency|DNA Repair-Deficiency Disorder|DNA Repair Deficiency Disorders|DNA Repair, Deficient|DNA Repairs, Deficient|Repair, Deficient DNA|Repairs, Deficient DNA|Syndrome, Chromosome Instability|Syndromes, Chromosome Instability Metabolic disease DNA Virus Infections MESH:D004266 Diseases caused by DNA VIRUSES. MESH:D014777 C01.925.256 C01.925 DNA Virus Infection|Infection, DNA Virus|Infections, DNA Virus|Virus Infection, DNA|Virus Infections, DNA Viral disease Dog Diseases MESH:D004283 Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used. MESH:D000820 C22.268 C22 Canine Disease|Canine Diseases|Disease, Canine|Disease, Dog|Diseases, Canine|Diseases, Dog|Dog Disease Animal disease Dohle Bodies and Leukemia MESH:C565617 MESH:D015470 C04.557.337.539.275/C565617 C04.557.337.539.275 Cancer Donath-Landsteiner hemolytic anemia MESH:C538618 MESH:D000744 C15.378.071.141.125/C538618|C20.111.175/C538618 C15.378.071.141.125|C20.111.175 Donath-Landsteiner syndrome|Dressler syndrome|Harley syndrome|Immune hemolytic anemia, paroxysmal cold Blood disease|Immune system disease Donnai-Barrow syndrome MESH:C536390 DO:DOID:0090144|OMIM:222448 MESH:D006319|MESH:D009216|MESH:D011507|MESH:D015499|MESH:D061085|MESH:D065630 C09.218.458.341.887/C536390|C10.500.034/C536390|C10.597.751.418.341.887/C536390|C11.744.636/C536390|C12.050.351.968.419.815/C536390|C12.050.351.968.934.734/C536390|C12.200.777.419.815/C536390|C12.200.777.934.734/C536390|C12.950.419.815/C536390|C12.950.934.734/C536390|C16.131.433/C536390|C16.131.666.034/C536390|C16.320.565.893/C536390|C16.320.831/C536390|C18.452.648.893/C536390|C23.300.008/C536390|C23.300.707.960.500.116/C536390|C23.888.592.763.393.341.887/C536390|C23.888.942.750/C536390 C09.218.458.341.887|C10.500.034|C10.597.751.418.341.887|C11.744.636|C12.050.351.968.419.815|C12.050.351.968.934.734|C12.200.777.419.815|C12.200.777.934.734|C12.950.419.815|C12.950.934.734|C16.131.433|C16.131.666.034|C16.320.565.893|C16.320.831|C18.452.648.893|C23.300.008|C23.300.707.960.500.116|C23.888.592.763.393.341.887|C23.888.942.750 DBS-FOAR Syndrome|DBS/FOAR SYNDROME|Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness|Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria|Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis|Diaphragmatic hernia-exomphalos-hypertelorism syndrome|Donnai Barrow syndrome|Faciooculoacousticorenal syndrome|Facio-Oculo-Acoustico-Renal syndrome|Foar Syndrome Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Donohue Syndrome MESH:D056731 DO:DOID:0050470|OMIM:246200|OMIM:262190 Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death. MESH:D000015|MESH:D003920|MESH:D019465|MESH:D030342 C05.660.207.325|C16.131.077.313|C16.320.215|C18.452.394.750.654|C19.246.537 C05.660.207|C16.131.077|C16.320|C18.452.394.750|C19.246 Leprechaunism|LEPRECHAUNISM INSULIN RECEPTOR, DEFECT IN, INCLUDED|Leprechaunisms|Mendenhall Syndrome|Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities|Rabson Mendenhall Syndrome|Rabson-Mendenhall Syndrome|Syndrome, Donohue|Syndrome, Mendenhall|Syndrome, Rabson-Mendenhall Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease dopamine beta hydroxylase deficiency MESH:C535600 DO:DOID:0090145|OMIM:223360 MESH:D001342 C10.177/C535600 C10.177 Congenital dopamine beta hydroxylase deficiency|dopamine beta-hydroxylase deficiency|Dopamine beta Hydroxylase Deficiency, Congenital|DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL|dopamine b-hydroxylase|Noradrenaline deficiency|Norepinephrine deficiency|ORTHOSTATIC HYPOTENSION 1|ORTHYP1 Nervous system disease Dosage-sensitive sex reversal MESH:C535601 OMIM:300018 MESH:D006059 C12.050.351.875.253.309/C535601|C12.200.706.316.309/C535601|C12.800.316.309/C535601|C16.131.939.316.309/C535601|C19.391.119.309/C535601 C12.050.351.875.253.309|C12.200.706.316.309|C12.800.316.309|C16.131.939.316.309|C19.391.119.309 46,XY SEX REVERSAL 2|46,XY SEX REVERSAL, DAX1-RELATED|DOSAGE-SENSITIVE SEX REVERSAL|DSS|SRXY2 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Double cortex MESH:C538475 MESH:D054221 C10.500.507.450.230/C538475|C10.500.507.450.499.230/C538475|C16.131.666.507.450.230/C538475|C16.131.666.507.450.499.230/C538475|C16.320.322.500.186/C538475 C10.500.507.450.230|C10.500.507.450.499.230|C16.131.666.507.450.230|C16.131.666.507.450.499.230|C16.320.322.500.186 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Double Nail for Fifth Toe MESH:C565090 MESH:D009260|MESH:D009264 C17.800.529/C565090|C23.300.820/C565090 C17.800.529|C23.300.820 Pathology (anatomical condition)|Skin disease Double Outlet Right Ventricle MESH:D004310 DO:DOID:6406 Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted. MESH:D006345|MESH:D014188 C14.240.400.560.540.500|C14.240.400.915.300|C14.280.400.560.540.500|C14.280.400.915.300|C16.131.240.400.560.540.500|C16.131.240.400.915.300 C14.240.400.560.540|C14.240.400.915|C14.280.400.560.540|C14.280.400.915|C16.131.240.400.560.540|C16.131.240.400.915 Anomaly, Taussig-Bing|Double-Outlet Right Ventricle|Double Outlet Right Ventricle, Noncommitted VSD|Double-Outlet Right Ventricles|Double Outlet Right Ventricle, Subaortic VSD|Double Outlet Right Ventricle, Subpulmonary VSD|Right Ventricle, Double-Outlet|Taussig Bing Anomaly|Taussig-Bing Anomaly|Ventricle, Double-Outlet Right Cardiovascular disease|Congenital abnormality Doughnut Lesions of Skull, Familial MESH:C565089 MESH:D001848 C05.116.099/C565089 C05.116.099 Musculoskeletal disease Dourine MESH:D004313 A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia. MESH:D011529|MESH:D014352 C01.610.701.688.367|C01.610.752.300.900.226|C01.610.752.625.367|C22.674.710.367 C01.610.701.688|C01.610.752.300.900|C01.610.752.625|C22.674.710 Dourines Animal disease|Parasitic disease Dowling-Degos Disease MESH:C562924 DO:DOID:0060256|OMIM:179850|OMIM:615327|OMIM:615537|OMIM:615696 MESH:D012873|MESH:D017444|MESH:D017495 C16.320.850/C562924|C17.800.621.430/C562924|C17.800.827/C562924|C17.800.859/C562924 C16.320.850|C17.800.621.430|C17.800.827|C17.800.859 ACROPIGMENTATIO RETICULARIS|dark dot disease|DDD|DDD1|DDD2|DDD4|Dowling-Degos disease 1|DOWLING-DEGOS DISEASE 2|DOWLING-DEGOS DISEASE 4|Dowling-Degos-Kitamura Disease|Kitamura Reticulate Acropigmentation|RAK|Reticular Pigment Anomaly of Flexures|Reticulate Acropigmentation of Kitamura|RETICULATE PIGMENTATION OF KITAMURA|RPK Genetic disease (inborn)|Skin disease Down Syndrome MESH:D004314 DO:DOID:14250|OMIM:190685 A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) MESH:D000015|MESH:D008607|MESH:D025063 C10.597.606.360.220|C16.131.077.327|C16.131.260.260|C16.320.180.260 C10.597.606.360|C16.131.077|C16.131.260|C16.320.180 47,XX,+21|47,XY,+21|DCR, INCLUDED|Down's Syndrome|Downs Syndrome|DOWN SYNDROME CRITICAL REGION, INCLUDED|Down Syndrome, Partial Trisomy 21|DSCR, INCLUDED|Mongolism|Partial Trisomy 21 Down Syndrome|Syndrome, Down|Syndrome, Down's|Trisomy 21|TRISOMY 21 DOWN SYNDROME CHROMOSOME REGION, INCLUDED|Trisomy 21, Meiotic Nondisjunction|Trisomy 21, Mitotic Nondisjunction|Trisomy G Congenital abnormality|Genetic disease (inborn)|Nervous system disease Down Syndrome Critical Region MESH:C566023 MESH:D004314 C10.597.606.360.220/C566023|C16.131.077.327/C566023|C16.131.260.260/C566023|C16.320.180.260/C566023 C10.597.606.360.220|C16.131.077.327|C16.131.260.260|C16.320.180.260 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Doyne honeycomb retinal dystrophy MESH:C535602 DO:DOID:0060745|OMIM:126600 MESH:D015594 C10.292.700.450/C535602|C11.640.513/C535602 C10.292.700.450|C11.640.513 DHRD|Doyne honeycomb degeneration of retina|DOYNE HONEYCOMB DEGENERATION OF RETINA;DHD MALATTIA LEVENTINESE, INCLUDED|DRUSEN, RADIAL, AUTOSOMAL DOMINANT, INCLUDED|Malattia Leventinese|MLVT, INCLUDED Eye disease|Nervous system disease Drachtman Weinblatt Sitarz syndrome MESH:C535603 MESH:D001855|MESH:D009421 C10.500/C535603|C15.378.190/C535603|C16.131.666/C535603 C10.500|C15.378.190|C16.131.666 Marrow hypoplasia associated with congenital neurologic anomalies Blood disease|Congenital abnormality|Nervous system disease Dracunculiasis MESH:D004320 DO:DOID:14418 Infection with nematodes of the genus Dracunculus. One or more worms may be seen at a time, with the legs and feet being the most commonly infected areas. Symptoms include pruritus, nausea, vomiting, diarrhea, or asthmatic attacks. MESH:D017205 C01.610.335.508.700.750.299 C01.610.335.508.700.750 Disease, Guinea Worm|Diseases, Guinea Worm|Dracunculiases|Dracunculoses|Dracunculosis|Guinea Worm Disease|Guinea Worm Diseases|Guinea Worm Infection|Infection, Guinea Worm|Worm Disease, Guinea Parasitic disease Dropped Head Syndrome MESH:D000094222 Condition characterized by sagging of the head due to severe NECK MUSCLES weakness in the back of the neck. It may result in severe cervical KYPHOSIS called chin-on-chest deformity. Dropped head syndrome is most often associated with other diseases, e.g., PARKINSON'S DISEASE; STROKES; HEAD AND NECK CANCER; and ANKYLOSING SPONDYLITIS. MESH:D018908 C05.651.515.500|C10.597.613.593.500|C23.550.695.500|C23.888.592.608.593.500 C05.651.515|C10.597.613.593|C23.550.695|C23.888.592.608.593 Chin-on-Chest Deformities|Chin on Chest Deformity|Chin-on-Chest Deformity|Deformity, Chin-on-Chest|Dropped Head Syndromes Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Drowning MESH:D004332 Death that occurs as a result of anoxia or heart arrest, associated with immersion in liquid. MESH:D003643|MESH:D014947 C23.550.260.393|C26.304 C23.550.260|C26 Drownings Pathology (process)|Wounds and injuries Drug Eruptions MESH:D003875 Adverse cutaneous reactions caused by ingestion, parenteral use, or local application of a drug. These may assume various morphologic patterns and produce various types of lesions. MESH:D003872|MESH:D004342 C17.800.174.600|C25.100.468.380 C17.800.174|C25.100.468 Dermatitis, Adverse Drug Reaction|Dermatitis Medicamentosa|Drug Eruption|Drug Eruption, Maculopapular|Drug Eruptions, Maculopapular|Drug Reaction, Morbilliform|Drug Reactions, Morbilliform|Eruption, Drug|Eruption, Maculopapular Drug|Eruptions, Drug|Eruptions, Maculopapular Drug|Exanthem, Maculopapular|Exanthem, Morbilliform|Exanthems, Maculopapular|Exanthems, Morbilliform|Maculopapular Drug Eruption|Maculopapular Drug Eruptions|Maculopapular Exanthem|Maculopapular Exanthems|Morbilliform Drug Reaction|Morbilliform Drug Reactions|Morbilliform Exanthem|Morbilliform Exanthems|Reaction, Morbilliform Drug|Reactions, Morbilliform Drug Skin disease Drug Fever MESH:D000092582 Drug-induced fever. MESH:D004342|MESH:D005334|MESH:D006968 C20.543.418.257|C23.888.119.344.173|C25.100.468.690 C20.543.418|C23.888.119.344|C25.100.468 Drug Induced Fever|Drug-Induced Fever|Drug-Induced Fevers|Drug Induced Hyperthermia|Drug-Induced Hyperthermia|Drug-Induced Hyperthermias|Fever, Drug|Fever, Drug-Induced|Hyperthermia, Drug-Induced Immune system disease|Signs and symptoms Drug Hypersensitivity MESH:D004342 Immunologically mediated adverse reactions to medicinal substances used legally or illegally. MESH:D064420 C25.100.468 C25.100 Allergies, Drug|Allergy, Drug|Drug Allergies|Drug Allergy|Drug Hypersensitivities|Hypersensitivities, Drug|Hypersensitivity, Drug Drug Hypersensitivity Syndrome MESH:D063926 Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s). MESH:D003875|MESH:D006968 C17.800.174.600.262|C20.543.418.310|C25.100.468.380.262 C17.800.174.600|C20.543.418|C25.100.468.380 DRESS Syndrome|DRESS Syndromes|Drug Hypersensitivity Syndromes|Drug Reaction With Eosinophilia And Systemic Symptom|Drug Reaction with Eosinophilia and Systemic Symptoms|Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome|Hypersensitivity Syndrome, Drug|Hypersensitivity Syndromes, Drug|Syndrome, Drug Hypersensitivity|Syndromes, Drug Hypersensitivity Immune system disease|Skin disease Drug Metabolism, Poor, CYP2C19-Related MESH:C563703 OMIM:609535 MESH:D008661 C16.320.565/C563703|C18.452.648/C563703 C16.320.565|C18.452.648 CLOPIDOGREL, POOR METABOLISM OF, INCLUDED|MEPHENYTOIN, POOR METABOLISM OF, INCLUDED|OMEPRAZOLE, POOR METABOLISM OF, INCLUDED|PROGUANIL, POOR METABOLISM OF, INCLUDED Genetic disease (inborn)|Metabolic disease Drug Metabolism, Poor, CYP2D6-Related MESH:C563835 OMIM:608902 MESH:D008661 C16.320.565/C563835|C18.452.648/C563835 C16.320.565|C18.452.648 CODEINE, ULTRARAPID METABOLISM OF, INCLUDED|DEBRISOQUINE, POOR METABOLISM OF, INCLUDED|DEBRISOQUINE, ULTRARAPID METABOLISM OF, INCLUDED|DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED, INCLUDED|NORTRIPTYLINE, POOR METABOLISM OF, INCLUDED|SPARTEINE, POOR METABOLISM OF, INCLUDED Genetic disease (inborn)|Metabolic disease Drug Overdose MESH:D062787 Accidental or deliberate use of a medication or street drug in excess of normal dosage. MESH:D019966 C25.775.383 C25.775 Drug Overdoses|Overdose, Drug|Overdoses, Drug Substance-related disorder Drug-Related Side Effects and Adverse Reactions MESH:D064420 Disorders that result from the intended use of PHARMACEUTICAL PREPARATIONS. Included in this heading are a broad variety of chemically-induced adverse conditions due to toxicity, DRUG INTERACTIONS, and metabolic effects of pharmaceuticals. MESH:D064419 C25.100 C25 Adverse Drug Event|Adverse Drug Events|Adverse Drug Reaction|Adverse Drug Reactions|Drug Event, Adverse|Drug Events, Adverse|Drug Reaction, Adverse|Drug Reactions, Adverse|Drug Related Side Effects and Adverse Reaction|Drug-Related Side Effects and Adverse Reaction|Drug Related Side Effects and Adverse Reactions|Drug Side Effect|Drug Side Effects|Drug Toxicities|Drug Toxicity|Effects, Drug Side|Reactions, Adverse Drug|Side Effect, Drug|Side Effects, Drug|Side Effects of Drugs|Toxicities, Drug|Toxicity, Drug Drug Resistant Epilepsy MESH:D000069279 Epileptic condition in which adequate trials of two tolerated and appropriately chosen and used ANTIEPILEPTIC DRUGS schedules to achieve sustained seizure freedom failed. MESH:D004827 C10.228.140.490.125 C10.228.140.490 Drug Refractory Epilepsies|Drug Refractory Epilepsy|Drug Resistant Epilepsies|Epilepsies, Drug Refractory|Epilepsies, Drug Resistant|Epilepsies, Intractable|Epilepsies, Medication Resistant|Epilepsies, Refractory|Epilepsy, Drug Refractory|Epilepsy, Drug Resistant|Epilepsy, Intractable|Epilepsy, Medication Resistant|Epilepsy, Refractory|Intractable Epilepsies|Intractable Epilepsy|Medication Resistant Epilepsies|Medication Resistant Epilepsy|Refractory Epilepsies|Refractory Epilepsies, Drug|Refractory Epilepsy|Refractory Epilepsy, Drug|Resistant Epilepsies, Drug|Resistant Epilepsies, Medication|Resistant Epilepsy, Drug|Resistant Epilepsy, Medication Nervous system disease Drusen, Radial, Autosomal Dominant MESH:C565088 MESH:D015593|MESH:D015785 C11.270/C565088|C11.768.585.585/C565088|C16.320.290/C565088 C11.270|C11.768.585.585|C16.320.290 Eye disease|Genetic disease (inborn) Dry Eye Syndromes MESH:D015352 DO:DOID:10140 Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur. MESH:D007766 C11.496.260 C11.496 Dry Eye|Dry Eye Disease|Dry Eye Diseases|Dry Eye, Evaporative|Dry Eyes|Dry Eye Syndrome|Evaporative Dry Eye|Evaporative Dry Eye Disease|Evaporative Dry Eyes|Evaporative Dry Eye Syndrome Eye disease Dry Socket MESH:D004368 DO:DOID:13585 A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed) MESH:D009059 C07.465.227 C07.465 Alveolalgia|Alveolalgias|Alveolar Osteitides|Alveolar Osteitis|Alveolar Periostitides|Alveolar Periostitis|Alveolitis Sicca Dolorosa|Dry Sockets|Osteitides, Alveolar|Osteitis, Alveolar|Periostitides, Alveolar|Periostitis, Alveolar|Socket, Dry|Sockets, Dry Mouth disease Duane Retraction Syndrome MESH:D004370 DO:DOID:12557|OMIM:126800|OMIM:604356|OMIM:607323|OMIM:617041 A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE. MESH:D000093922|MESH:D015785 C10.292.562.700.375.500|C11.270.235|C11.590.436.400.500|C16.320.290.235 C10.292.562.700.375|C11.270|C11.590.436.400|C16.320.290 Acrorenoocular Syndrome|Acrorenoocular Syndromes|Anomaly, Duane|Anomaly, Isolated Duane|Co Contractive Retraction Syndrome|Co-Contractive Retraction Syndrome|Co-Contractive Retraction Syndromes|DRRS|DRS|DR SYNDROME|Duane Anomalies, Isolated|Duane Anomaly|Duane Anomaly, Isolated|Duane Anomaly with Radial Abnormalities and Deafness|Duane Anomaly with Radial Ray Abnormalities and Deafness|Duane Radial Ray Syndrome|Duane-Radial Ray Syndrome|Duane Retraction Syndrome 1|Duane Retraction Syndrome 2|DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS|Duane Retraction Syndrome, Type 1|Duane Retraction Syndrome, Type 2|Duane Retraction Syndrome, Type 3|Duane's Syndrome|Duanes Syndrome|Duane Syndrome|DURS1|DURS2|DURS3|DUS|Isolated Duane Anomalies|Isolated Duane Anomaly|Isolated Duane Retraction Syndrome|Ocular Retraction Syndrome|Ocular Retraction Syndromes|Okihiro Syndrome|Retraction Syndrome|Retraction Syndrome, Co-Contractive|Retraction Syndrome, Duane|Retraction Syndrome, Ocular|Retraction Syndromes|Stilling Turk Duane Syndrome|Stilling-Turk-Duane Syndrome|Stilling-Turk-Duane Syndromes|Syndrome, Acrorenoocular|Syndrome, Duane|Syndrome, Duane-Radial Ray|Syndrome, Duane Retraction|Syndrome, Duane's|Syndrome, Ocular Retraction|Syndrome, Okihiro|Type 1 Duane Retraction Syndrome|Type 2 Duane Retraction Syndrome|Type 3 Duane Retraction Syndrome Eye disease|Genetic disease (inborn)|Nervous system disease Dubowitz syndrome MESH:C535718 DO:DOID:14796 MESH:D004485|MESH:D006130|MESH:D008607|MESH:D008831|MESH:D019066 C05.660.207.620/C535718|C10.500.507.400.500/C535718|C10.597.606.360/C535718|C16.131.621.207.620/C535718|C16.131.666.507.400.500/C535718|C17.800.174.620/C535718|C17.800.815.620/C535718|C23.550.291.812/C535718|C23.550.393/C535718|C23.888.592.604.646/C535718|F03.625.539/C535718 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C17.800.174.620|C17.800.815.620|C23.550.291.812|C23.550.393|C23.888.592.604.646|F03.625.539 Dwarfism-eczema-peculiar facies syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Ductus Arteriosus, Patent MESH:D004374 DO:DOID:13832|OMIM:607411|OMIM:617035|OMIM:617039 A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth. MESH:D006330 C14.240.400.340|C14.280.400.340|C16.131.240.400.340 C14.240.400|C14.280.400|C16.131.240.400 Patency of the Ductus Arteriosus|Patent Ductus Arteriosus|PATENT DUCTUS ARTERIOSUS 1|PATENT DUCTUS ARTERIOSUS 2|PATENT DUCTUS ARTERIOSUS 3|Patent Ductus Arteriosus Familial|PDA|PDA1|PDA2|PDA3 Cardiovascular disease|Congenital abnormality Duker Weiss Siber syndrome MESH:C535719 MESH:D008607|MESH:D008850|MESH:D014564|MESH:D061085 C10.500.034/C535719|C10.597.606.360/C535719|C11.250.566/C535719|C12.050.351.875/C535719|C12.200.706/C535719|C12.800/C535719|C16.131.384.666/C535719|C16.131.666.034/C535719|C16.131.939/C535719|C23.300.008/C535719|C23.888.592.604.646/C535719|F03.625.539/C535719 C10.500.034|C10.597.606.360|C11.250.566|C12.050.351.875|C12.200.706|C12.800|C16.131.384.666|C16.131.666.034|C16.131.939|C23.300.008|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Dumping Syndrome MESH:D004377 DO:DOID:14495 Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus. MESH:D011178 C06.405.748.630.310|C23.550.767.812.500 C06.405.748.630|C23.550.767.812 Dumping Syndromes|Syndrome, Dumping|Syndromes, Dumping Digestive system disease|Pathology (process) Duodenal Diseases MESH:D004378 DO:DOID:4072 Pathological conditions in the DUODENUM region of the small intestine (INTESTINE, SMALL). MESH:D007410 C06.405.469.275 C06.405.469 Disease, Duodenal|Diseases, Duodenal|Duodenal Disease Digestive system disease Duodenal Neoplasms MESH:D004379 DO:DOID:10021|DO:DOID:1737 Tumors or cancer of the DUODENUM. MESH:D004378|MESH:D007414 C04.588.274.476.411.445|C06.301.371.411.445|C06.405.249.411.445|C06.405.469.275.270|C06.405.469.491.445 C04.588.274.476.411|C06.301.371.411|C06.405.249.411|C06.405.469.275|C06.405.469.491 Cancer, Duodenal|Cancer of Duodenum|Cancer of the Duodenum|Duodenal Cancer|Duodenal Neoplasm|Duodenum Cancer|Neoplasm, Duodenal|Neoplasms, Duodenal Cancer|Digestive system disease Duodenal Obstruction MESH:D004380 DO:DOID:3558 Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents. MESH:D004378|MESH:D007415 C06.405.469.275.395|C06.405.469.531.311 C06.405.469.275|C06.405.469.531 Duodenal Obstructions|Obstruction, Duodenal|Obstructions, Duodenal Digestive system disease Duodenal Ulcer MESH:D004381 DO:DOID:1724 A PEPTIC ULCER located in the DUODENUM. MESH:D010437 C06.405.469.275.800.348|C06.405.748.586.349 C06.405.469.275.800|C06.405.748.586 Curling's Ulcer|Curlings Ulcer|Curling Ulcer|Duodenal Ulcers|Ulcer, Curling|Ulcer, Duodenal|Ulcers, Duodenal Digestive system disease Duodenal ulcer due to antral G-cell hyperfunction MESH:C535721 MESH:D004381 C06.405.469.275.800.348/C535721|C06.405.748.586.349/C535721 C06.405.469.275.800.348|C06.405.748.586.349 Hypergastrinemic, hyperpepsinogenemic duodenal ulcer Digestive system disease Duodenal Ulcer, Hyperpepsinogenemic I MESH:C565086 MESH:D004381 C06.405.469.275.800.348/C565086|C06.405.748.586.349/C565086 C06.405.469.275.800.348|C06.405.748.586.349 Digestive system disease Duodenitis MESH:D004382 DO:DOID:8643 Inflammation of the DUODENUM section of the small intestine (INTESTINE, SMALL). Erosive duodenitis may cause bleeding in the UPPER GI TRACT and PEPTIC ULCER. MESH:D004378|MESH:D004751 C06.405.205.462.249|C06.405.469.275.600|C06.405.469.326.750 C06.405.205.462|C06.405.469.275|C06.405.469.326 Duodenitis, Erosive|Erosive Duodenitis Digestive system disease Duodenogastric Reflux MESH:D004383 DO:DOID:4071 Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH. MESH:D004378|MESH:D013272 C06.405.469.275.700|C06.405.748.240 C06.405.469.275|C06.405.748 Duodenal Reflux|Duodenal Refluxs|Duodeno Gastric Reflux|Duodeno-Gastric Reflux|Reflux, Duodenal|Reflux, Duodenogastric|Reflux, Duodeno-Gastric Digestive system disease Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery MESH:C535722 MESH:D007409|MESH:D007415 C06.198.719/C535722|C06.405.469.445/C535722|C06.405.469.531/C535722|C16.131.314.466/C535722 C06.198.719|C06.405.469.445|C06.405.469.531|C16.131.314.466 Duodenojejunal Atresia, Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery Congenital abnormality|Digestive system disease Duplication 15q11-q13 Syndrome MESH:C557830 MESH:D002869|MESH:D008607 C10.597.606.360/C557830|C23.550.210/C557830|C23.888.592.604.646/C557830|F03.625.539/C557830 C10.597.606.360|C23.550.210|C23.888.592.604.646|F03.625.539 15q11.2 microdeletion|Chromosome 15q11.2 deletion syndrome|Chromosome 15q11-q13 Duplication Syndrome|Microdeletion 15q11.2 Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Duplication 4p Syndrome MESH:C537643 MESH:D014314|MESH:D025063 C16.131.260/C537643|C16.320.180/C537643|C23.550.210.050.750/C537643|C23.550.210.182.500/C537643 C16.131.260|C16.320.180|C23.550.210.050.750|C23.550.210.182.500 Chromosome 4, Partial Trisomy 4p|Chromosome 4, Trisomy 4p|Duplication 4p Congenital abnormality|Genetic disease (inborn)|Pathology (process) Dupuytren Contracture MESH:D004387 OMIM:126900 A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50. MESH:D003240|MESH:D003286|MESH:D005350 C04.557.450.565.590.340.173|C05.651.197.270|C17.300.270 C04.557.450.565.590.340|C05.651.197|C17.300 Contracture, Dupuytren|Contracture, Dupuytren's|DUPC1, INCLUDED|DUPUYTREN CONTRACTURE 1, INCLUDED|Dupuytren Disease|Dupuytren's Contracture|Dupuytrens Contracture|Dupuytren's Disease|Dupuytrens Disease|Fibromatosis, Palmar|Palmar Fibromatosis|PLANTAR FIBROMAS, INCLUDED|PLANTAR FIBROMATOSIS, FAMILIAL, INCLUDED Cancer|Connective tissue disease|Musculoskeletal disease Dupuytren Contracture 1 MESH:C565083 MESH:D004387 C04.557.450.565.590.340.173/C565083|C05.651.197.270/C565083|C17.300.270/C565083 C04.557.450.565.590.340.173|C05.651.197.270|C17.300.270 Cancer|Connective tissue disease|Musculoskeletal disease Dust Mite Allergy MESH:D000092542 Allergic rhinitis due to HOUSE DUST MITE ALLERGENS (e.g., Der p 1 of HOUSE DUST MITES) that is triggered by the immune system. MESH:D012221 C08.460.799.315.500.500|C08.674.453.500.500|C09.603.799.315.500.500|C20.543.480.680.443.500.500 C08.460.799.315.500|C08.674.453.500|C09.603.799.315.500|C20.543.480.680.443.500 Allergy, Dermatophagoides farinae|Allergy, Dermatophagoides pteronyssinus|Allergy, Dust Mite|Dermatophagoides farinae Allergies|Dermatophagoides farinae Allergy|Dermatophagoides pteronyssinus Allergies|Dermatophagoides pteronyssinus Allergy|Dust Mite Hypersensitivities|Dust Mite Hypersensitivity|House Dust Mite Allergy|House Dust Mite Hypersensitivity|Hypersensitivity, Dust Mite Ear-nose-throat disease|Immune system disease|Respiratory tract disease Dwarfism MESH:D004392 A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. MESH:D001848|MESH:D004700|MESH:D030342 C05.116.099.343|C16.320.240|C19.297 C05.116.099|C16.320|C19 Nanism Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Dwarfism, Familial, With Muscle Spasms MESH:C563447 MESH:D004392|MESH:D013035 C05.116.099.343/C563447|C10.597.613.750/C563447|C16.320.240/C563447|C19.297/C563447|C23.888.592.608.750/C563447 C05.116.099.343|C10.597.613.750|C16.320.240|C19.297|C23.888.592.608.750 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Dwarfism, Levi Type MESH:C565081 OMIM:127100 MESH:D004392 C05.116.099.343/C565081|C16.320.240/C565081|C19.297/C565081 C05.116.099.343|C16.320.240|C19.297 Snub-Nosed Type of Dwarfism Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone MESH:C565615 MESH:D004392|MESH:D008607 C05.116.099.343/C565615|C10.597.606.360/C565615|C16.320.240/C565615|C19.297/C565615|C23.888.592.604.646/C565615|F03.625.539/C565615 C05.116.099.343|C10.597.606.360|C16.320.240|C19.297|C23.888.592.604.646|F03.625.539 Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Dwarfism, Pituitary MESH:D004393 DO:DOID:0060870 A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development. MESH:D001849|MESH:D004392|MESH:D007018 C05.116.099.343.445|C05.116.132.358|C10.228.140.617.738.300.300|C19.297.312|C19.700.482.311 C05.116.099.343|C05.116.132|C10.228.140.617.738.300|C19.297|C19.700.482 Dwarfism, Growth Hormone Deficiency|Growth Hormone Deficiency Dwarfism|Hypophysial Dwarf|Hyposomatotrophic Dwarfism|Isolated GH Deficiency|Isolated Growth Hormone Deficiency|Isolated HGH Deficiency|Isolated Human Growth Hormone Deficiency|Isolated Somatotropin Deficiency|Isolated Somatotropin Deficiency Disorder|Nanism, Pituitary|Pituitary Dwarf|Pituitary Dwarfism|Pituitary Nanism Endocrine system disease|Musculoskeletal disease|Nervous system disease Dwarfism, Proportionate, with Hip Dislocation MESH:C565614 MESH:D004392|MESH:D006618 C05.116.099.343/C565614|C05.660.297.500/C565614|C16.131.621.297.500/C565614|C16.131.621.449/C565614|C16.320.240/C565614|C19.297/C565614 C05.116.099.343|C05.660.297.500|C16.131.621.297.500|C16.131.621.449|C16.320.240|C19.297 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Dwarfism stiff joint ocular abnormalities MESH:C535724 MESH:D004392|MESH:D005124|MESH:D006228|MESH:D007592 C05.116.099.343/C535724|C05.390.408/C535724|C05.550/C535724|C05.660.585.988.425/C535724|C11.250/C535724|C16.131.384/C535724|C16.131.621.585.988.500/C535724|C16.320.240/C535724|C19.297/C535724 C05.116.099.343|C05.390.408|C05.550|C05.660.585.988.425|C11.250|C16.131.384|C16.131.621.585.988.500|C16.320.240|C19.297 Dwarfism with Stiff Joints and Ocular Abnormalities|Moore Federman syndrome|Moore-Federman Syndrome Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease Dwarfism tall vertebrae MESH:C535725 MESH:D004392|MESH:D006618 C05.116.099.343/C535725|C05.660.297.500/C535725|C16.131.621.297.500/C535725|C16.131.621.449/C535725|C16.320.240/C535725|C19.297/C535725 C05.116.099.343|C05.660.297.500|C16.131.621.297.500|C16.131.621.449|C16.320.240|C19.297 Dwarfism with disproportionately high vertebral bodies|Dwarfism with Tall Vertebrae|Short stature and tall vertebrae Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Dyggve-Melchior-Clausen syndrome MESH:C535726 OMIM:223800 MESH:D004392|MESH:D008607|MESH:D010009 C05.116.099.343/C535726|C05.116.099.708/C535726|C10.597.606.360/C535726|C16.320.240/C535726|C16.320.728/C535726|C19.297/C535726|C23.888.592.604.646/C535726|F03.625.539/C535726 C05.116.099.343|C05.116.099.708|C10.597.606.360|C16.320.240|C16.320.728|C19.297|C23.888.592.604.646|F03.625.539 DMC|Dyggve-Melchior-Clausen Disease|Dyggve-Melchior-Clausen syndrome X linked|Dyggve-Melchior-Clausen Syndrome, X-Linked|X-linked Dyggve-Melchior-Clausen syndrome Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Dykes Markes Harper syndrome MESH:C535727 MESH:D002526|MESH:D006529|MESH:D007057|MESH:D013163 C06.552.416/C535727|C10.228.140.252/C535727|C16.131.831.512/C535727|C16.614.492/C535727|C17.800.428.333/C535727|C17.800.804.512/C535727|C23.300.775.525/C535727|C23.300.775.750/C535727 C06.552.416|C10.228.140.252|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512|C23.300.775.525|C23.300.775.750 Ichthyosis, hepatosplenomegaly, and cerebellar degeneration|Ichthyosis hepatosplenomegaly cerebellar degeneration Congenital abnormality|Digestive system disease|Infant-newborn disease|Nervous system disease|Pathology (anatomical condition)|Skin disease Dysalbuminemic Hyperthyroxinemia MESH:C566305 MESH:D050010 C16.320.427/C566305|C19.874.410.249/C566305 C16.320.427|C19.874.410.249 Hyperthyroxinemia, Dysalbuminemic Endocrine system disease|Genetic disease (inborn) Dysarthria MESH:D004401 Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489) MESH:D001184 C10.597.606.150.500.800.150.200|C23.888.592.604.150.500.800.150.200 C10.597.606.150.500.800.150|C23.888.592.604.150.500.800.150 Dysarthoses|Dysarthosis|Dysarthria, Flaccid|Dysarthria, Guttural|Dysarthria, Hyperkinetic|Dysarthria, Hypokinetic|Dysarthria, Mixed|Dysarthrias|Dysarthria, Scanning|Dysarthrias, Flaccid|Dysarthrias, Guttural|Dysarthrias, Hyperkinetic|Dysarthrias, Hypokinetic|Dysarthrias, Mixed|Dysarthria, Spastic|Dysarthrias, Scanning|Dysarthrias, Spastic|Flaccid Dysarthria|Flaccid Dysarthrias|Guttural Dysarthria|Guttural Dysarthrias|Hyperkinetic Dysarthria|Hyperkinetic Dysarthrias|Hypokinetic Dysarthria|Hypokinetic Dysarthrias|Mixed Dysarthria|Mixed Dysarthrias|Scanning Dysarthria|Scanning Dysarthrias|Scanning Speech|Scanning Speechs|Spastic Dysarthria|Spastic Dysarthrias|Speechs, Scanning Nervous system disease|Signs and symptoms Dysautonomia, Familial MESH:D004402 DO:DOID:11589|OMIM:223900 An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4) MESH:D009477|MESH:D054969 C10.177.575.300|C10.500.250.309|C10.574.500.493.250|C10.668.829.800.175.250|C16.131.666.310.309|C16.320.400.415.309 C10.177.575|C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 Dominant Hereditary Sensory Neuropathy, Type III|DYS|DYSAUTONOMIA, FAMILIAL|Familial Dysautonomia|FD|Hereditary Sensory and Autonomic Neuropathy 3|Hereditary Sensory and Autonomic Neuropathy Type III|Hereditary-Sensory and Autonomic Neuropathy Type III|Hereditary Sensory Neuropathy, Dominant, Type 3|Hereditary Sensory Neuropathy, Dominant, Type III|Hereditary Sensory Neuropathy Type 3|Hereditary Sensory Neuropathy, Type 3, Dominant|HSAN 3|HSAN3|HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III|HSAN III|HSAN Type III|HSN-III|Neuropathy, Hereditary and Autonomic, Type III|Neuropathy, Hereditary Sensory And Autonomic, Type III|Riley Day Syndrome|Riley-Day Syndrome|Type 3 Hereditary Sensory Neuropathy, Dominant|Type III Hereditary Sensory Neuropathy, Dominant Congenital abnormality|Genetic disease (inborn)|Nervous system disease Dysautonomia like disorder MESH:C535728 MESH:D054969 C10.177.575/C535728 C10.177.575 Dysautonomia-Like Disorder Nervous system disease Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d MESH:C566261 MESH:D050171 C18.452.584.500/C566261 C18.452.584.500 Metabolic disease Dysbiosis MESH:D064806 Changes in quantitative and qualitative composition of MICROBIOTA. The changes may lead to altered host microbial interaction or homeostatic imbalance that can contribute to a disease state often with inflammation. MESH:D010335 C23.550.308 C23.550 Disbacterioses|Disbacteriosis|Disbioses|Disbiosis|Dysbacterioses|Dysbacteriosis|Dysbioses|Dys-symbioses|Dys symbiosis|Dys-symbiosis Pathology (process) Dyscalculia MESH:D060705 DO:DOID:12568 Impaired ability in numerical concepts. These inabilities arise as a result of primary neurological lesion, are syndromic (e.g., GERSTMANN SYNDROME ) or acquired due to brain damage. MESH:D007859 C10.597.606.150.550.099|C23.888.592.604.150.550.099|F03.625.562.199 C10.597.606.150.550|C23.888.592.604.150.550|F03.625.562 Acalculia|Acalculias|Acalculia, Secondary|Acalculias, Secondary|Acquired Dyscalculia|Acquired Dyscalculias|Developmental Dyscalculia|Developmental Dyscalculias|Dyscalculia, Acquired|Dyscalculia, Developmental|Dyscalculia, Primary|Dyscalculias|Dyscalculias, Acquired|Dyscalculias, Developmental|Dyscalculias, Primary|Primary Dyscalculia|Primary Dyscalculias|Secondary Acalculia|Secondary Acalculias Mental disorder|Nervous system disease|Signs and symptoms Dyschondrosteosis and Nephritis MESH:C565080 MESH:D006130|MESH:D009393|MESH:D010009 C05.116.099.708/C565080|C12.050.351.968.419.570/C565080|C12.200.777.419.570/C565080|C12.950.419.570/C565080|C16.320.728/C565080|C23.550.393/C565080 C05.116.099.708|C12.050.351.968.419.570|C12.200.777.419.570|C12.950.419.570|C16.320.728|C23.550.393 Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Dyschromatosis symmetrica hereditaria 1 MESH:C535729 DO:DOID:0060257|OMIM:127400 MESH:D010859 C17.800.621/C535729|C23.550.755/C535729 C17.800.621|C23.550.755 DSH|DSH1|Dyschromatosis symmetrica hereditaria|DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1|Familial reticulate acropigmentation of Dohi|RAD|Reticulate acropigmentation of Dohi|Symmetric dyschromatosis of the extremities Pathology (process)|Skin disease Dyschromatosis universalis hereditaria MESH:C535730 DO:DOID:0060304 MESH:D010859|MESH:D012873 C16.320.850/C535730|C17.800.621/C535730|C17.800.827/C535730|C23.550.755/C535730 C16.320.850|C17.800.621|C17.800.827|C23.550.755 Genetic disease (inborn)|Pathology (process)|Skin disease Dyschromatosis Universalis Hereditaria 1 MESH:C567273 OMIM:127500 MESH:D010859|MESH:D012873 C16.320.850/C567273|C17.800.621/C567273|C17.800.827/C567273|C23.550.755/C567273 C16.320.850|C17.800.621|C17.800.827|C23.550.755 DUH1 Genetic disease (inborn)|Pathology (process)|Skin disease Dyschromatosis Universalis Hereditaria 2 MESH:C567194 OMIM:612715 MESH:D010859|MESH:D012873 C16.320.850/C567194|C17.800.621/C567194|C17.800.827/C567194|C23.550.755/C567194 C16.320.850|C17.800.621|C17.800.827|C23.550.755 DUH2 Genetic disease (inborn)|Pathology (process)|Skin disease DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 OMIM:615402 DO:DOID:0060304 MESH:D010859|MESH:D012873 C16.320.850/615402|C17.800.621/615402|C17.800.827/615402|C23.550.755/615402 C16.320.850|C17.800.621|C17.800.827|C23.550.755 DUH3 Genetic disease (inborn)|Pathology (process)|Skin disease Dysentery MESH:D004403 DO:DOID:12384|DO:DOID:13250 Acute inflammation of the intestine associated with infectious DIARRHEA of various etiologies, generally acquired by eating contaminated food containing TOXINS, BIOLOGICAL derived from BACTERIA or other microorganisms. Dysentery is characterized initially by watery FECES then by bloody mucoid stools. It is often associated with ABDOMINAL PAIN; FEVER; and DEHYDRATION. MESH:D005759|MESH:D007410 C06.405.205.331|C06.405.469.300 C06.405.205|C06.405.469 Diarrheal Disease, Infectious|Infectious Diarrheal Disease|Infectious Diarrheal Diseases Digestive system disease Dysentery, Amebic MESH:D004404 DYSENTERY caused by intestinal amebic infection, chiefly with ENTAMOEBA HISTOLYTICA. This condition may be associated with amebic infection of the LIVER and other distant sites. MESH:D000562|MESH:D004403|MESH:D007411 C01.610.432.396|C01.610.752.049.328|C06.405.205.331.312|C06.405.469.300.312|C06.405.469.452.396 C01.610.432|C01.610.752.049|C06.405.205.331|C06.405.469.300|C06.405.469.452 Amebiases, Intestinal|Amebiasis, Intestinal|Amebic Colitides|Amebic Colitis|Amebic Dysenteries|Amebic Dysentery|Amoebiases, Intestinal|Amoebiasis, Intestinal|Amoebic Colitides|Amoebic Colitis|Amoebic Dysenteries|Amoebic Dysentery|Colitides, Amebic|Colitides, Amoebic|Colitis, Amebic|Colitis, Amoebic|Dysenteries, Amebic|Dysenteries, Amoebic|Dysentery, Amoebic|Entamoebiases, Intestinal|Entamoebiasis, Intestinal|Intestinal Amebiases|Intestinal Amebiasis|Intestinal Amoebiases|Intestinal Amoebiasis|Intestinal Entamoeba histolytica Infection|Intestinal Entamoebiases|Intestinal Entamoebiasis Digestive system disease|Parasitic disease Dysentery, Bacillary MESH:D004405 DO:DOID:12385 DYSENTERY caused by gram-negative rod-shaped enteric bacteria (ENTEROBACTERIACEAE), most often by the genus SHIGELLA. Shigella dysentery, Shigellosis, is classified into subgroups according to syndrome severity and the infectious species. Group A: SHIGELLA DYSENTERIAE (severest); Group B: SHIGELLA FLEXNERI; Group C: SHIGELLA BOYDII; and Group D: SHIGELLA SONNEI (mildest). MESH:D004403|MESH:D004756 C01.150.252.400.310.229|C06.405.205.331.479|C06.405.469.300.479 C01.150.252.400.310|C06.405.205.331|C06.405.469.300 Bacillary Dysentery|Dysenteries, Shigella|Dysenteries, Shigella boydii|Dysenteries, Shigella dysenteriae|Dysenteries, Shigella flexneri|Dysenteries, Shigella sonnei|Dysentery, Shiga bacillus|Dysentery, Shigella|Dysentery, Shigella boydii|Dysentery, Shigella dysenteriae|Dysentery, Shigella dysenteriae type 1|Dysentery, Shigella flexneri|Dysentery, Shigella sonnei|Infection, Shigella|Infections, Shigella|Shiga bacillus Dysentery|Shigella boydii Dysenteries|Shigella boydii Dysentery|Shigella dysenteriae Dysenteries|Shigella dysenteriae Dysentery|Shigella Dysenteries|Shigella Dysentery|Shigella flexneri Dysenteries|Shigella flexneri Dysentery|Shigella Infection|Shigella Infections|Shigella sonnei Dysenteries|Shigella sonnei Dysentery|Shigellosis Bacterial infection or mycosis|Digestive system disease Dysequilibrium syndrome MESH:C535731 OMIM:224050|OMIM:615268 MESH:D002524|MESH:D008607 C10.228.140.252.190/C535731|C10.597.350.090.500/C535731|C10.597.606.360/C535731|C23.888.592.350.090.200/C535731|C23.888.592.604.646/C535731|F03.625.539/C535731 C10.228.140.252.190|C10.597.350.090.500|C10.597.606.360|C23.888.592.350.090.200|C23.888.592.604.646|F03.625.539 Autosomal Recessive Cerebellar Ataxia with Mental Retardation|Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification|CAMRQ1|CAMRQ4|CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1|CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4|Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive|CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1|CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 4|Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1|CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4|Cerebellar disorder, nonprogressive, with mental retardation|Cerebellar Hypoplasia and Mental Retardation with Or without Quadrupedal Locomotion|Cerebellar hypoplasia, VLDLR associated|Cerebellar Hypoplasia, VLDLR-Associated|Chmrq1|DES|Des-Vldlr|DYSEQUILIBRIUM SYNDROME|Dysequilibrium Syndrome-Vldlr|Vldlr-Associated Cerebellar Hypoplasia|Vldlrch|Vldlr-Ch Mental disorder|Nervous system disease|Signs and symptoms Dyserythropoiesis, Congenital, with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin MESH:C566368 MESH:D000740 C15.378.071/C566368 C15.378.071 Blood disease Dyserythropoietic Anemia with Thrombocytopenia MESH:C564525 MESH:D000742|MESH:D013921|MESH:D040181 C15.378.071.141.150.095/C564525|C15.378.140.855/C564525|C16.320.070.095/C564525|C16.320.322/C564525 C15.378.071.141.150.095|C15.378.140.855|C16.320.070.095|C16.320.322 Dyserythropoietic Anemia and Thrombocytopenia|Gata1-Related Cytopenia|Gata1-Related X-Linked Cytopenia|X-Linked Macrothrombocytopenia Blood disease|Genetic disease (inborn) Dysferlinopathy MESH:C537995 MESH:D049288 C05.651.534.500.280/C537995|C10.668.491.175.500.149/C537995|C16.320.577.280/C537995 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Dysfibrinogenemia Causing Recurrent Thrombosis MESH:C565018 MESH:D013927|MESH:D020147 C14.907.355.830/C565018|C15.378.100.141/C565018 C14.907.355.830|C15.378.100.141 Blood disease|Cardiovascular disease Dysfibrinogenemia, Congenital MESH:C562727 OMIM:616004 MESH:D000347 C15.378.100.100.056/C562727|C15.378.100.141.072/C562727|C15.378.463.067/C562727|C16.320.099.056/C562727 C15.378.100.100.056|C15.378.100.141.072|C15.378.463.067|C16.320.099.056 HYPODYSFIBRINOGENEMIA, CONGENITAL, INCLUDED Blood disease|Genetic disease (inborn) Dysgammaglobulinemia MESH:D004406 DO:DOID:11702 An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins. MESH:D001796|MESH:D007153 C15.378.147.333|C20.673.430 C15.378.147|C20.673 Dysgammaglobulinemias Blood disease|Immune system disease Dysgerminoma MESH:D004407 DO:DOID:4441 A malignant ovarian neoplasm, thought to be derived from primordial germ cells of the sexually undifferentiated embryonic gonad. It is the counterpart of the classical seminoma of the testis, to which it is both grossly and histologically identical. Dysgerminomas comprise 16% of all germ cell tumors but are rare before the age of 10, although nearly 50% occur before the age of 20. They are generally considered of low-grade malignancy but may spread if the tumor extends through its capsule and involves lymph nodes or blood vessels. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1646) MESH:D018237 C04.557.465.330.300 C04.557.465.330 Disgerminoma|Disgerminomas|Dysgerminomas Cancer Dysgeusia MESH:D004408 A condition characterized by alterations of the sense of taste which may range from mild to severe, including gross distortions of taste quality. MESH:D013651 C10.597.751.861.479|C23.888.592.763.861.479 C10.597.751.861|C23.888.592.763.861 Altered Taste|Distorted Taste|Dysgeusias|Parageusia|Parageusias|Taste, Altered|Taste, Distorted Nervous system disease|Signs and symptoms Dysgnathia complex MESH:C537996 OMIM:202650 MESH:D007569|MESH:D016142 C05.500.460/C537996|C05.660.207.410/C537996|C05.660.207.540.460/C537996|C07.320.440/C537996|C07.650.500.460/C537996|C10.500.034.875/C537996|C16.131.077.410/C537996|C16.131.260.380/C537996|C16.131.621.207.410/C537996|C16.131.621.207.540.460/C537996|C16.131.666.034.875/C537996|C16.131.850.500.460/C537996|C16.320.180.380/C537996 C05.500.460|C05.660.207.410|C05.660.207.540.460|C07.320.440|C07.650.500.460|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.621.207.540.460|C16.131.666.034.875|C16.131.850.500.460|C16.320.180.380 Agnathia-holoprosencephaly|AGNATHIA-OTOCEPHALY COMPLEX|AGOTC|DYSGNATHIA COMPLEX AGNATHIA-HOLOPROSENCEPHALY|Holoprosencephaly-agnathia|OTOCEPHALY Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Nervous system disease Dyskeratosis Congenita MESH:D019871 DO:DOID:2729|OMIM:305000 A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin. MESH:D000080984|MESH:D012868|MESH:D012873|MESH:D040181 C15.378.190.223.500.750|C16.131.831.150|C16.320.322.108|C16.320.850.235|C17.800.804.150|C17.800.827.235 C15.378.190.223.500|C16.131.831|C16.320.322|C16.320.850|C17.800.804|C17.800.827 CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA, INCLUDED|Congenita, X-Linked Dyskeratosis|DKCX|Dyskeratosis Congenita, X Linked|Dyskeratosis Congenita, X-Linked|GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA, INCLUDED|HHS, INCLUDED|Syndrome, Zinsser-Cole-Engman|X-Linked Dyskeratosis Congenita|X-Linked Dyskeratosis Congenitas|Zinsser Cole Engman Syndrome|Zinsser-Cole-Engman Syndrome|ZINSSER-COLE-ENGMAN SYNDROME HOYERAAL-HREIDARSSON SYNDROME, INCLUDED Blood disease|Congenital abnormality|Genetic disease (inborn)|Skin disease Dyskeratosis Congenita, Autosomal Dominant MESH:C565079 OMIM:127550 MESH:D019871 C15.378.190.223.500.750/C565079|C16.131.831.150/C565079|C16.320.322.108/C565079|C16.320.850.235/C565079|C17.800.804.150/C565079|C17.800.827.235/C565079 C15.378.190.223.500.750|C16.131.831.150|C16.320.322.108|C16.320.850.235|C17.800.804.150|C17.800.827.235 DKCA1|DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1|Dyskeratosis Congenita, Scoggins Type Blood disease|Congenital abnormality|Genetic disease (inborn)|Skin disease DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 OMIM:613989 DO:DOID:0070016 MESH:C565079 C15.378.190.223.500.750/C565079/613989|C16.131.831.150/C565079/613989|C16.320.322.108/C565079/613989|C16.320.850.235/C565079/613989|C17.800.804.150/C565079/613989|C17.800.827.235/C565079/613989 C15.378.190.223.500.750/C565079|C16.131.831.150/C565079|C16.320.322.108/C565079|C16.320.850.235/C565079|C17.800.804.150/C565079|C17.800.827.235/C565079 DKCA2|DKCB4,|DKCB4, INCLUDED|DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED Blood disease|Congenital abnormality|Genetic disease (inborn)|Skin disease DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 OMIM:613990 DO:DOID:0070018 MESH:C565079 C15.378.190.223.500.750/C565079/613990|C16.131.831.150/C565079/613990|C16.320.322.108/C565079/613990|C16.320.850.235/C565079/613990|C17.800.804.150/C565079/613990|C17.800.827.235/C565079/613990 C15.378.190.223.500.750/C565079|C16.131.831.150/C565079|C16.320.322.108/C565079|C16.320.850.235/C565079|C17.800.804.150/C565079|C17.800.827.235/C565079 DKCA3 Blood disease|Congenital abnormality|Genetic disease (inborn)|Skin disease DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 OMIM:616553 DO:DOID:0070023 MESH:C565079 C15.378.190.223.500.750/C565079/616553|C16.131.831.150/C565079/616553|C16.320.322.108/C565079/616553|C16.320.850.235/C565079/616553|C17.800.804.150/C565079/616553|C17.800.827.235/C565079/616553 C15.378.190.223.500.750/C565079|C16.131.831.150/C565079|C16.320.322.108/C565079|C16.320.850.235/C565079|C17.800.804.150/C565079|C17.800.827.235/C565079 DKCA6|DKCB7, INCLUDED|DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, INCLUDED Blood disease|Congenital abnormality|Genetic disease (inborn)|Skin disease Dyskeratosis Congenita, Autosomal Recessive MESH:C565611 OMIM:224230 MESH:D019871 C15.378.190.223.500.750/C565611|C16.131.831.150/C565611|C16.320.322.108/C565611|C16.320.850.235/C565611|C17.800.804.150/C565611|C17.800.827.235/C565611 C15.378.190.223.500.750|C16.131.831.150|C16.320.322.108|C16.320.850.235|C17.800.804.150|C17.800.827.235 DKCB1|DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 Blood disease|Congenital abnormality|Genetic disease (inborn)|Skin disease DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 OMIM:613987 DO:DOID:0070017 MESH:C565611 C15.378.190.223.500.750/C565611/613987|C16.131.831.150/C565611/613987|C16.320.322.108/C565611/613987|C16.320.850.235/C565611/613987|C17.800.804.150/C565611/613987|C17.800.827.235/C565611/613987 C15.378.190.223.500.750/C565611|C16.131.831.150/C565611|C16.320.322.108/C565611|C16.320.850.235/C565611|C17.800.804.150/C565611|C17.800.827.235/C565611 DKCB2 Blood disease|Congenital abnormality|Genetic disease (inborn)|Skin disease DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 OMIM:613988 DO:DOID:0070019 MESH:C565611 C15.378.190.223.500.750/C565611/613988|C16.131.831.150/C565611/613988|C16.320.322.108/C565611/613988|C16.320.850.235/C565611/613988|C17.800.804.150/C565611/613988|C17.800.827.235/C565611/613988 C15.378.190.223.500.750/C565611|C16.131.831.150/C565611|C16.320.322.108/C565611|C16.320.850.235/C565611|C17.800.804.150/C565611|C17.800.827.235/C565611 DKCB3 Blood disease|Congenital abnormality|Genetic disease (inborn)|Skin disease DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 OMIM:615190 DO:DOID:0070022 MESH:C565611 C15.378.190.223.500.750/C565611/615190|C16.131.831.150/C565611/615190|C16.320.322.108/C565611/615190|C16.320.850.235/C565611/615190|C17.800.804.150/C565611/615190|C17.800.827.235/C565611/615190 C15.378.190.223.500.750/C565611|C16.131.831.150/C565611|C16.320.322.108/C565611|C16.320.850.235/C565611|C17.800.804.150/C565611|C17.800.827.235/C565611 DKCA4,|DKCA4, INCLUDED|DKCB5|DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCLUDED Blood disease|Congenital abnormality|Genetic disease (inborn)|Skin disease DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 OMIM:616353 DO:DOID:0070024 MESH:C565611 C15.378.190.223.500.750/C565611/616353|C16.131.831.150/C565611/616353|C16.320.322.108/C565611/616353|C16.320.850.235/C565611/616353|C17.800.804.150/C565611/616353|C17.800.827.235/C565611/616353 C15.378.190.223.500.750/C565611|C16.131.831.150/C565611|C16.320.322.108/C565611|C16.320.850.235/C565611|C17.800.804.150/C565611|C17.800.827.235/C565611 DKCB6 Blood disease|Congenital abnormality|Genetic disease (inborn)|Skin disease Dyskeratosis, Hereditary Benign Intraepithelial MESH:C562551 OMIM:127600 MESH:D012868 C16.131.831/C562551|C17.800.804/C562551 C16.131.831|C17.800.804 DKBI|HBID Congenital abnormality|Skin disease Dyskinesia, Drug-Induced MESH:D004409 Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199) MESH:D020258|MESH:D020820|MESH:D064420 C10.228.662.262.500|C10.597.350.275|C10.720.312|C23.888.592.350.275|C25.100.750|C25.723.705.200 C10.228.662.262|C10.597.350|C10.720|C23.888.592.350|C25.100|C25.723.705 Drug-Induced Dyskinesia|Drug-Induced Dyskinesias|Dyskinesia, Drug Induced|Dyskinesia, Medication Induced|Dyskinesia, Medication-Induced|Dyskinesias, Drug-Induced|Dyskinesias, Medication-Induced|Medication Induced Dyskinesia|Medication-Induced Dyskinesia|Medication-Induced Dyskinesias Nervous system disease|Signs and symptoms Dyskinesia, Familial, with Facial Myokymia MESH:C564676 OMIM:606703 MESH:D020385|MESH:D020820 C10.228.662.262/C564676|C10.597.350/C564676|C10.597.613.650/C564676|C23.888.592.350/C564676|C23.888.592.608.650/C564676 C10.228.662.262|C10.597.350|C10.597.613.650|C23.888.592.350|C23.888.592.608.650 DSKOD|DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA|DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL DOMINANT|FDFM Nervous system disease|Signs and symptoms DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET OMIM:616921 MESH:D006948|MESH:D009069 C10.228.662/616921|C10.597.350.350/616921|C23.888.592.350.350/616921 C10.228.662|C10.597.350.350|C23.888.592.350.350 IOLOD Nervous system disease|Signs and symptoms Dyskinesias MESH:D020820 DO:DOID:9854 Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES. MESH:D009069|MESH:D009461 C10.228.662.262|C10.597.350|C23.888.592.350 C10.228.662|C10.597|C23.888.592 Abnormal Movement|Abnormal Movements|Asterixis|Ballismus|Dyskinesia|Dyskinesia, Lingual-Facial-Buccal|Dyskinesia, Linguofacial|Dyskinesia, Oral|Dyskinesia, Oral-Facial|Dyskinesia, Orofacial|Dyskinesias, Lingual-Facial-Buccal|Dyskinesias, Linguofacial|Dyskinesias, Oral|Dyskinesias, Oral-Facial|Dyskinesias, Orofacial|Hemiballism|Hemiballismus|Involuntary Movement|Involuntary Movements|Lingual Facial Buccal Dyskinesia|Lingual-Facial-Buccal Dyskinesia|Lingual-Facial-Buccal Dyskinesias|Linguofacial Dyskinesia|Linguofacial Dyskinesias|Movement, Abnormal|Movement, Involuntary|Movements, Abnormal|Movements, Involuntary|Oral Dyskinesia|Oral Dyskinesias|Oral Facial Dyskinesia|Oral-Facial Dyskinesia|Oral-Facial Dyskinesias|Orofacial Dyskinesia|Orofacial Dyskinesias|Tardive Oral Dyskinesia|Tardive Oral Dyskinesias Nervous system disease|Signs and symptoms Dyslexia MESH:D004410 DO:DOID:13417|DO:DOID:4428|OMIM:127700|OMIM:300509|OMIM:600202|OMIM:604254|OMIM:606616|OMIM:606896|OMIM:608995 A cognitive disorder characterized by an impaired ability to comprehend written and printed words or phrases despite intact vision. This condition may be developmental or acquired. Developmental dyslexia is marked by reading achievement that falls substantially below that expected given the individual's chronological age, measured intelligence, and age-appropriate education. The disturbance in reading significantly interferes with academic achievement or with activities of daily living that require reading skills. (From DSM-IV) MESH:D007806|MESH:D007859 C10.597.606.150.500.300|C10.597.606.150.550.200|C23.888.592.604.150.500.300|C23.888.592.604.150.550.200|F03.625.562.400 C10.597.606.150.500|C10.597.606.150.550|C23.888.592.604.150.500|C23.888.592.604.150.550|F03.625.562 Alexia|Alexias|Blindnesses, Word|Blindness, Word|Developmental Dyslexia|Developmental Dyslexias|Developmental Reading Disabilities|Developmental Reading Disability|Developmental Reading Disorder|Developmental Reading Disorders|Disabilities, Developmental Reading|Disability, Developmental Reading|Disorder, Developmental Reading|Disorder, Reading|Disorders, Developmental Reading|Disorders, Reading|Dyslexia, Developmental|Dyslexias|Dyslexias, Developmental|DYSLEXIA, SUSCEPTIBILITY TO, 1|DYSLEXIA, SUSCEPTIBILITY TO, 2|DYSLEXIA, SUSCEPTIBILITY TO, 3|DYSLEXIA, SUSCEPTIBILITY TO, 5|DYSLEXIA, SUSCEPTIBILITY TO, 6|DYSLEXIA, SUSCEPTIBILITY TO, 7, INCLUDED|DYSLEXIA, SUSCEPTIBILITY TO, 8|DYSLEXIA, SUSCEPTIBILITY TO, 9|DYX1|DYX2|DYX3|DYX4, INCLUDED|DYX5|DYX6|DYX7, INCLUDED|DYX8|DYX9|Reading Disabilities, Developmental|Reading Disability, Developmental|READING DISABILITY, SPECIFIC, 1 DYSLEXIA, SUSCEPTIBILITY TO, 4, INCLUDED|READING DISABILITY, SPECIFIC, 2|Reading Disorder|Reading Disorder, Developmental|Reading Disorders|Reading Disorders, Developmental|Word Blindness|WORD-BLINDNESS, CONGENITAL|Word Blindnesses Mental disorder|Nervous system disease|Signs and symptoms Dyslexia, Acquired MESH:D004411 DO:DOID:13417 A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (INFARCTION, POSTERIOR CEREBRAL ARTERY) and other BRAIN DISEASES. MESH:D004410|MESH:D019965 C10.597.606.150.500.300.200|C10.597.606.150.550.200.500|C23.888.592.604.150.500.300.200|C23.888.592.604.150.550.200.500|F03.615.700|F03.625.562.400.500 C10.597.606.150.500.300|C10.597.606.150.550.200|C23.888.592.604.150.500.300|C23.888.592.604.150.550.200|F03.615|F03.625.562.400 Acquired Alexia|Acquired Dyslexia|Acquired Global Dyslexia|Acquired Reading Disabilities|Acquired Reading Disability|Acquired Spelling Dyslexia|Acquired Word Blindness|Acquired Word Blindnesses|Alexia, Acquired|Blindness, Acquired Word|Blindnesses, Acquired Word|Disabilities, Acquired Reading|Disability, Acquired Reading|Dyslexia, Acquired Global|Dyslexia, Acquired Spelling|Global Dyslexia, Acquired|Reading Disabilities, Acquired|Reading Disability, Acquired|Spelling Dyslexia, Acquired|Word Blindness, Acquired|Word Blindnesses, Acquired Mental disorder|Nervous system disease|Signs and symptoms Dyslipidemias MESH:D050171 Abnormalities in the serum levels of LIPIDS, including overproduction or deficiency. Abnormal serum lipid profiles may include high total CHOLESTEROL, high TRIGLYCERIDES, low HIGH DENSITY LIPOPROTEIN CHOLESTEROL, and elevated LOW DENSITY LIPOPROTEIN CHOLESTEROL. MESH:D052439 C18.452.584.500 C18.452.584 Dyslipidemia|Dyslipoproteinemia|Dyslipoproteinemias Metabolic disease Dysmenorrhea MESH:D004412 Painful menstruation. MESH:D008599|MESH:D017699 C23.550.568.750|C23.888.592.612.944.500 C23.550.568|C23.888.592.612.944 Dysmenorrheas|Menstrual Pain|Menstrual Pains|Menstruation, Painful|Menstruations, Painful|Painful Menstruation|Painful Menstruations|Pain, Menstrual|Pains, Menstrual Pathology (process)|Signs and symptoms Dysmyelination With Jaundice MESH:C565610 MESH:D002547|MESH:D007565|MESH:D008607|MESH:D012640|MESH:D020279 C10.228.140.140.254/C565610|C10.228.140.163.100.362/C565610|C10.228.140.695.625/C565610|C10.314.400/C565610|C10.574.500.490/C565610|C10.597.606.360/C565610|C10.597.742/C565610|C16.320.400.367/C565610|C16.320.565.189.362/C565610|C18.452.132.100.362/C565610|C18.452.648.189.362/C565610|C23.550.429.500/C565610|C23.888.592.604.646/C565610|C23.888.592.742/C565610|C23.888.885.375/C565610|F03.625.539/C565610 C10.228.140.140.254|C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C10.597.606.360|C10.597.742|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362|C23.550.429.500|C23.888.592.604.646|C23.888.592.742|C23.888.885.375|F03.625.539 Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms Dysosteosclerosis MESH:C562973 MESH:D010026 C05.116.099.708.702/C562973 C05.116.099.708.702 Musculoskeletal disease Dysostoses MESH:D004413 DO:DOID:1934 Defective bone formation involving individual bones, singly or in combination. MESH:D001848 C05.116.099.370 C05.116.099 Dysostosis Musculoskeletal disease Dyspareunia MESH:D004414 Recurrent genital pain occurring during, before, or after SEXUAL INTERCOURSE in either the male or the female. MESH:D005831|MESH:D005832|MESH:D012735|MESH:D020018 C12.050.351.500.110|C12.100.250.110|C12.100.500.100|C12.100.875.242|C12.200.294.100|F03.835.199 C12.050.351.500|C12.100.250|C12.100.500|C12.100.875|C12.200.294|F03.835 Mental disorder|Urogenital disease (female)|Urogenital disease (male) Dyspepsia MESH:D004415 Impaired digestion, especially after eating. MESH:D012817 C23.888.821.236 C23.888.821 Dyspepsias|Indigestion|Indigestions Signs and symptoms Dysphasia, Familial Developmental MESH:C563997 MESH:D001037 C10.597.606.150.500.800.100/C563997|C23.888.592.604.150.500.800.100/C563997 C10.597.606.150.500.800.100|C23.888.592.604.150.500.800.100 Nervous system disease|Signs and symptoms Dysphonia MESH:D055154 Difficulty and/or pain in PHONATION or speaking. MESH:D014832 C08.360.940.325|C09.400.940.325|C10.597.975.325|C23.888.592.979.325 C08.360.940|C09.400.940|C10.597.975|C23.888.592.979 Dysphonia, Hyperkinetic|Dysphonia, Organic Tremor|Dysphonia, Spastic|Hyperkinetic Dysphonia|Neurologic Adducter Spastic Dysphonia|Organic Tremor Dysphonia|Phonation Disorder|Phonation Disorders|Spastic Dysphonia|Spastic Dysphonia, Neurologic Adducter Ear-nose-throat disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Dysplasia epiphysealis hemimelica MESH:C537997 MESH:D001848 C05.116.099/C537997 C05.116.099 Trevor disease Musculoskeletal disease Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas MESH:C565076 MESH:D001848|MESH:D005097|MESH:D018210 C04.557.450.565.265.270/C565076|C04.557.450.565.575.610.615.325/C565076|C04.700.330/C565076|C05.116.099.708.670.615.325/C565076|C05.116.099/C565076|C05.116.540.310.500/C565076|C16.320.700.330/C565076 C04.557.450.565.265.270|C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099|C05.116.099.708.670.615.325|C05.116.540.310.500|C16.320.700.330 Osteochondromatosis, Dominant Carpotarsal Cancer|Genetic disease (inborn)|Musculoskeletal disease Dysplastic Nevus Syndrome MESH:D004416 DO:DOID:10041 Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed) MESH:D009386|MESH:D009506 C04.557.665.560.260|C04.700.305|C16.320.700.305 C04.557.665.560|C04.700|C16.320.700 B K Mole Syndrome|B-K Mole Syndrome|Dysplastic Nevi|Dysplastic Nevus|Familial Atypical Multiple Mole Melanoma|Familial Atypical Multiple Mole-Melanoma|Nevi, Dysplastic|Nevus, Dysplastic|Nevus Syndrome, Dysplastic|Syndrome, B-K Mole|Syndrome, Dysplastic Nevus Cancer|Genetic disease (inborn) Dyspnea MESH:D004417 Difficult or labored breathing. MESH:D012120|MESH:D012818 C08.618.326|C23.888.852.371 C08.618|C23.888.852 Breathlessness|Breath Shortness|Dyspnea, Recumbent|Dyspnea, Rest|Dyspneas, Rest|Orthopnea|Platypnea|Recumbent Dyspnea|Rest Dyspnea|Shortness of Breath|Trepopnea Respiratory tract disease|Signs and symptoms Dyspnea, Paroxysmal MESH:D004418 A disorder characterized by sudden attacks of respiratory distress in at rest patients with HEART FAILURE and PULMONARY EDEMA. It usually occurs at night after several hours of sleep in a reclining position. Patients awaken with a feeling of suffocation, coughing, a cold sweat, and TACHYCARDIA. When there is significant WHEEZING, it is called CARDIAC ASTHMA. MESH:D004417|MESH:D006333 C08.618.326.396|C14.280.434.313|C23.888.852.371.396 C08.618.326|C14.280.434|C23.888.852.371 Asthma, Cardiac|Cardiac Asthma|Cardiac Asthmas|Dyspnea, Paroxysmal Nocturnal|Nocturnal Dyspnea, Paroxysmal|Paroxysmal Dyspnea|Paroxysmal Nocturnal Dyspnea Cardiovascular disease|Respiratory tract disease|Signs and symptoms Dysprothrombinemia MESH:C562724 DO:DOID:2235 MESH:D025861 C15.378.100.100/C562724|C16.320.099/C562724 C15.378.100.100|C16.320.099 Blood disease|Genetic disease (inborn) Dyssegmental dysplasia MESH:C537998 OMIM:224410 MESH:D004392 C05.116.099.343/C537998|C16.320.240/C537998|C19.297/C537998 C05.116.099.343|C16.320.240|C19.297 Anisospondylic camptomicromelic dwarfism|Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type|DDSH|Dyssegmental dwarfism|Dyssegmental Dwarfism, Silverman-Handmaker Type|Dyssegmental dysplasia Silverman Handmaker type|Dyssegmental Dysplasia, Silverman-Handmaker Type Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Dyssegmental dysplasia, Rolland-Desbuquois type MESH:C537999 MESH:D000130|MESH:D002972|MESH:D055036 C05.116.099.343.110/C537999|C05.116.099.708.017/C537999|C05.500.460.185/C537999|C05.660.142/C537999|C05.660.207.540.460.185/C537999|C07.320.440.185/C537999|C07.465.525.185/C537999|C07.650.500.460.185/C537999|C07.650.525.185/C537999|C16.131.621.142/C537999|C16.131.621.207.540.460.185/C537999|C16.131.850.500.460.185/C537999|C16.131.850.525.185/C537999|C16.320.240.500/C537999 C05.116.099.343.110|C05.116.099.708.017|C05.500.460.185|C05.660.142|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.621.142|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.240.500 Anisospondylic camptomicromelic dwarfism, Rolland-Desbuquois type|Dyssegmental dwarfism, Rolland-Desbuquois type Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Dyssegmental Dysplasia with Glaucoma MESH:C563290 MESH:D004392|MESH:D005901 C05.116.099.343/C563290|C11.525.381/C563290|C16.320.240/C563290|C19.297/C563290 C05.116.099.343|C11.525.381|C16.320.240|C19.297 Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease Dyssomnias MESH:D020920 A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187) MESH:D012893 C10.886.425|F03.870.400 C10.886|F03.870 Adjustment Sleep Disorder|Adjustment Sleep Disorders|Dyssomnia|Eating-Drinking Syndrome, Nocturnal|Eating-Drinking Syndromes, Nocturnal|Environmental Sleep Disorder|Environmental Sleep Disorders|Extrinsic Sleep Disorder|Extrinsic Sleep Disorders|Limit Setting Sleep Disorder|Limit-Setting Sleep Disorder|Limit-Setting Sleep Disorders|Nocturnal Eating Drinking Syndrome|Nocturnal Eating-Drinking Syndrome|Nocturnal Eating-Drinking Syndromes|Sleep Disorder, Adjustment|Sleep Disorder, Environmental|Sleep Disorder, Extrinsic|Sleep Disorder, Limit Setting|Sleep Disorder, Limit-Setting|Sleep Disorders, Adjustment|Sleep Disorders, Environmental|Sleep Disorders, Extrinsic|Sleep Disorders, Limit-Setting|Syndrome, Nocturnal Eating-Drinking|Syndromes, Nocturnal Eating-Drinking Mental disorder|Nervous system disease Dystelephalangy MESH:C538000 MESH:D006228 C05.390.408/C538000|C05.660.585.988.425/C538000|C16.131.621.585.988.500/C538000 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Kirner deformity Congenital abnormality|Musculoskeletal disease Dysthymic Disorder MESH:D019263 DO:DOID:12139 Chronically depressed mood that occurs for most of the day more days than not for at least 2 years. The required minimum duration in children to make this diagnosis is 1 year. During periods of depressed mood, at least 2 of the following additional symptoms are present: poor appetite or overeating, insomnia or hypersomnia, low energy or fatigue, low self-esteem, poor concentration or difficulty making decisions, and feelings of hopelessness. (DSM-IV) MESH:D003866 F03.600.300.400 F03.600.300 Disorder, Dysthymic|Dysthymia|Dysthymia and Chronic Depression|Dysthymic Disorders|Neurotic Depression, Persistent Depressive Disorder|Persistent Depressive Disorder, Dysthymia Mental disorder Dystocia MESH:D004420 Slow or difficult OBSTETRIC LABOR or CHILDBIRTH. MESH:D007744 C12.050.703.420.288 C12.050.703.420 Dystocias Pregnancy complication Dystonia MESH:D004421 DO:DOID:543|OMIM:612067|OMIM:614860|OMIM:615034|OMIM:615073|OMIM:616411 An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77) MESH:D020820 C10.597.350.300|C23.888.592.350.300 C10.597.350|C23.888.592.350 Diurnal Dystonia|DYSTONIA 16|DYSTONIA 23|DYSTONIA 24|DYSTONIA 25|DYSTONIA 27|Dystonia, Diurnal|Dystonia, Limb|Dystonia, Muscle|Dystonia, Paroxysmal|DYT16|DYT23|DYT24|DYT25|DYT27|Limb Dystonia|Muscle Dystonia|Paroxysmal Dystonia Nervous system disease|Signs and symptoms Dystonia 12 MESH:C538001 DO:DOID:0090056|OMIM:128235 MESH:D020821 C10.228.662.300/C538001 C10.228.662.300 Dystonia-Parkinsonism, Rapid-Onset|Dyt12|Rapid-onset dystonia-parkinsonism|Rapid-Onset Dystonia Parkinsonism|RDP Nervous system disease Dystonia 13, Torsion MESH:C564354 OMIM:607671 MESH:D004421|MESH:D014102 C10.597.350.300/C564354|C23.300.970/C564354|C23.888.592.350.300/C564354 C10.597.350.300|C23.300.970|C23.888.592.350.300 DYSTONIA 13, TORSION, AUTOSOMAL DOMINANT|DYT13 Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Dystonia 15, myoclonic MESH:C538002 OMIM:607488 MESH:D004422 C10.228.140.079.357/C538002|C10.228.662.300.200/C538002|C10.574.500.393/C538002|C16.320.400.330/C538002 C10.228.140.079.357|C10.228.662.300.200|C10.574.500.393|C16.320.400.330 DYT15 Genetic disease (inborn)|Nervous system disease Dystonia 16 MESH:C567430 DO:DOID:0090048 MESH:D020821 C10.228.662.300/C567430 C10.228.662.300 DYT16 Nervous system disease Dystonia 17, Torsion, Autosomal Recessive MESH:C567319 OMIM:612406 MESH:D020821 C10.228.662.300/C567319 C10.228.662.300 DYT17 Nervous system disease Dystonia 18 MESH:C564288 MESH:D020821 C10.228.662.300/C564288 C10.228.662.300 Paroxysmal Exercise-Induced Dystonia|Paroxysmal Exertion-Induced Dyskinesia Nervous system disease Dystonia 3, Torsion, X-Linked MESH:C564048 OMIM:314250 MESH:D020821|MESH:D040181 C10.228.662.300/C564048|C16.320.322/C564048 C10.228.662.300|C16.320.322 Dystonia-Parkinsonism, X-Linked|DYT3|Lubag|Lubag Syndrome|Torsion Dystonia-Parkinsonism, Filipino Type|XDP|X-Linked Dystonia-Parkinsonism|X-Linked Dystonia-Parkinsonism Syndrome|X-Linked Torsion Dystonia-Parkinsonism Syndrome Genetic disease (inborn)|Nervous system disease Dystonia 6, torsion MESH:C538003 OMIM:602629 MESH:D004422 C10.228.140.079.357/C538003|C10.228.662.300.200/C538003|C10.574.500.393/C538003|C16.320.400.330/C538003 C10.228.140.079.357|C10.228.662.300.200|C10.574.500.393|C16.320.400.330 DYT6|Torsion dystonia adult onset mixed type|Torsion Dystonia, Adult-Onset, Mixed Type Genetic disease (inborn)|Nervous system disease DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES OMIM:617282 MESH:D001480|MESH:D009896|MESH:D020821 C10.228.140.079/617282|C10.228.662.300/617282|C10.292.700.225/617282|C11.640.451/617282 C10.228.140.079|C10.228.662.300|C10.292.700.225|C11.640.451 DYSTONIA 29, CHILDHOOD-ONSET|DYT29|DYTOABG|MEPAN SYNDROME Eye disease|Nervous system disease Dystonia, Dopa-responsive MESH:C538007 OMIM:128230 MESH:D020821 C10.228.662.300/C538007 C10.228.662.300 Dopa-Responsive Dystonia|Dopa-responsive dystonia, autosomal dominant|DRD|Dystonia 5|Dystonia, Dopa-responsive, autosomal dominant|Dystonia-Parkinsonism with diurnal fluctuation|Dystonia, progressive, with diurnal variation|DYT5|Hereditary Progressive Dystonia with Marked Diurnal Fluctuation|Segawa syndrome, autosomal dominant Nervous system disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency MESH:C562657 DO:DOID:0111168|OMIM:612716 MESH:D004421|MESH:D008661|MESH:D011596 C10.597.350.300/C562657|C10.597.606.881/C562657|C16.320.565/C562657|C18.452.648/C562657|C23.888.592.350.300/C562657|C23.888.592.604.882/C562657 C10.597.350.300|C10.597.606.881|C16.320.565|C18.452.648|C23.888.592.350.300|C23.888.592.604.882 Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency|Sepiapterin Reductase Deficiency|Spr Deficiency|SRD Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Dystonia, Focal, Task-Specific MESH:C566973 MESH:D020821 C10.228.662.300/C566973 C10.228.662.300 Focal Hand Dystonia|Focal Task-Specific Dystonia|FTSD|Musician's Dystonia|Occupational Cramp|Occupational Dystonia|Task-Specific Dystonia|Task-Specific Focal Dystonia Nervous system disease Dystonia Musculorum Deformans MESH:D004422 DO:DOID:0050835 A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078) MESH:D001480|MESH:D020271|MESH:D020821 C10.228.140.079.357|C10.228.662.300.200|C10.574.500.393|C16.320.400.330 C10.228.140.079|C10.228.662.300|C10.574.500|C16.320.400 Childhood Torsion Disease|Dystonia Deformans Musculorum|Dystonia Deformans Progressiva|Dystonia, Idiopathic Torsion|Dystonias, Idiopathic Torsion|Dystonias, Torsion|Idiopathic Torsion Dystonia|Idiopathic Torsion Dystonias|Oppenheim Ziehen Disease|Oppenheim-Ziehen Disease|Progressive Torsion Spasm|Spasm, Progressive Torsion|Torsion Disease, Childhood|Torsion Disease of Childhood|Torsion Dystonia|Torsion Dystonia, Idiopathic|Torsion Spasm, Progressive Genetic disease (inborn)|Nervous system disease Dystonia musculorum deformans 4 MESH:C538004 MESH:D004422 C10.228.140.079.357/C538004|C10.228.662.300.200/C538004|C10.574.500.393/C538004|C16.320.400.330/C538004 C10.228.140.079.357|C10.228.662.300.200|C10.574.500.393|C16.320.400.330 Dystonia 4, Torsion, Autosomal Dominant|Torsion dystonia 4, autosomal dominant type Genetic disease (inborn)|Nervous system disease Dystonia musculorum deformans type 1 MESH:C538005 OMIM:128100 MESH:D004422 C10.228.140.079.357/C538005|C10.228.662.300.200/C538005|C10.574.500.393/C538005|C16.320.400.330/C538005 C10.228.140.079.357|C10.228.662.300.200|C10.574.500.393|C16.320.400.330 Dystonia 1, Torsion, Autosomal Dominant|Dystonia Musculorum Deformans 1|Dyt1|Early-Onset Generalized Torsion Dystonia|Early-Onset Primary Dystonia|Early onset torsion dystonia|Early-Onset Torsion Dystonia|EOTD|Oppenheim Dystonia|Oppenheim's Dystonia|Primary Torsion Dystonia|Torsion dystonia 1, autosomal dominant Genetic disease (inborn)|Nervous system disease Dystonia musculorum deformans type 2 MESH:C538006 OMIM:224500 MESH:D004422 C10.228.140.079.357/C538006|C10.228.662.300.200/C538006|C10.574.500.393/C538006|C16.320.400.330/C538006 C10.228.140.079.357|C10.228.662.300.200|C10.574.500.393|C16.320.400.330 Dystonia 2, Torsion, Autosomal Recessive|Dystonia Musculorum Deformans 2|Dystonia, torsion, 2, autosomal recessive|DYT2|Torsion dystonia 2|Torsion dystonia 2, autosomal recessive type Genetic disease (inborn)|Nervous system disease Dystonia-Parkinsonism, Adult-Onset MESH:C567844 DO:DOID:0060900 MESH:D020734|MESH:D020821 C10.228.140.079.862/C567844|C10.228.662.300/C567844|C10.228.662.600/C567844 C10.228.140.079.862|C10.228.662.300|C10.228.662.600 Parkinson Disease 14, Autosomal Recessive Nervous system disease Dystonia with Cerebellar Atrophy MESH:C567131 MESH:D002526|MESH:D004421 C10.228.140.252/C567131|C10.597.350.300/C567131|C23.888.592.350.300/C567131 C10.228.140.252|C10.597.350.300|C23.888.592.350.300 Nervous system disease|Signs and symptoms Dystonia with Ringbinden MESH:C565608 MESH:D003286|MESH:D020821 C05.550.323/C565608|C05.651.197/C565608|C10.228.662.300/C565608 C05.550.323|C05.651.197|C10.228.662.300 Musculoskeletal disease|Nervous system disease Dystonic Disorders MESH:D020821 DO:DOID:0050835|DO:DOID:543|OMIM:617284 Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset. MESH:D009069 C10.228.662.300 C10.228.662 Adult-Onset Dystonia|Adult Onset Dystonias|Adult-Onset Dystonias|Adult Onset Idiopathic Focal Dystonias|Adult-Onset Idiopathic Focal Dystonias|Adult Onset Idiopathic Torsion Dystonias|Adult-Onset Idiopathic Torsion Dystonias|Autosomal Dominant Familial Dystonia|Autosomal Recessive Familial Dystonia|Childhood Onset Dystonia|Childhood Onset Dystonias|DYSTONIA 28, CHILDHOOD-ONSET|Dystonia, Adult-Onset|Dystonia, Childhood Onset|Dystonia Disorder|Dystonia Disorders|Dystonia, Familial|Dystonia, Focal|Dystonia, Hereditary|Dystonia, Idiopathic Familial|Dystonia, Primary|Dystonia, Psychogenic|Dystonias, Adult-Onset|Dystonias, Childhood Onset|Dystonia, Secondary|Dystonias, Familial|Dystonias, Focal|Dystonias, Hereditary|Dystonias, Idiopathic Familial|Dystonia, Sporadic|Dystonias, Primary|Dystonias, Psychogenic|Dystonias, Secondary|Dystonias, Sporadic|Dystonic Disorder|DYT28|Familial Dystonia|Familial Dystonia, Autosomal Dominant|Familial Dystonia, Autosomal Recessive|Familial Dystonia, Idiopathic|Familial Dystonias|Familial Dystonias, Idiopathic|Focal Dystonia|Focal Dystonias|Hereditary Dystonia|Hereditary Dystonias|Idiopathic Familial Dystonia|Idiopathic Familial Dystonias|Primary Dystonia|Primary Dystonias|Pseudodystonia|Pseudodystonias|Psychogenic Dystonia|Psychogenic Dystonias|Secondary Dystonia|Secondary Dystonias|Sporadic Dystonia|Sporadic Dystonias|Writer Cramp|Writer's Cramp|Writers Cramp Nervous system disease Dystransthyretinemic Euthyroidal Hyperthyroxinemia MESH:C567719 OMIM:145680 MESH:D006981 C19.874.410/C567719 C19.874.410 DTTRH|DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA|EUTHRYROIDAL HYPERTHYROXINEMIA 2|Hyperthyroxinemia, Dysprealbuminemic|Hyperthyroxinemia, Dystransthyretinemic Endocrine system disease Dysuria MESH:D053159 Painful URINATION. It is often associated with infections of the lower URINARY TRACT. MESH:D059411 C23.888.942.343.274 C23.888.942.343 Signs and symptoms Eagle syndrome MESH:C538010 MESH:D009999 C23.550.751/C538010 C23.550.751 Eagle's syndrome|elongated styloid process|Elongated styloid process syndrome|Styloid-stylohoid syndrome Pathology (process) Eales disease MESH:C538011 MESH:D009389|MESH:D031300 C11.768.757/C538011|C14.907.940.815/C538011|C23.550.589.500/C538011 C11.768.757|C14.907.940.815|C23.550.589.500 Idiopathic obliterative vasculopathy|Idiopathic recurrent vitreal hemorrhage Cardiovascular disease|Eye disease|Pathology (process) Earache MESH:D004433 Pain in the ear. MESH:D004427|MESH:D010146 C09.218.350|C23.888.592.612.302 C09.218|C23.888.592.612 Earaches|Otalgia|Otalgias Ear-nose-throat disease|Signs and symptoms Ear Deformities, Acquired MESH:D004426 Distortion or disfigurement of the ear caused by disease or injury after birth. MESH:D004427 C09.218.271 C09.218 Acquired Ear Deformities|Acquired Ear Deformity|Deformities, Acquired Ear|Deformity, Acquired Ear|Ear Deformity, Acquired Ear-nose-throat disease Ear Diseases MESH:D004427 DO:DOID:2742 Pathological processes of the ear, the hearing, and the equilibrium system of the body. MESH:D010038 C09.218 C09 Disease, Ear|Disease, Otologic|Disease, Otological|Ear Disease|Otological Disease|Otological Diseases|Otologic Disease|Otologic Diseases Ear-nose-throat disease Early-onset ataxia with oculomotor apraxia and hypoalbuminemia MESH:C538013 OMIM:208920 MESH:D001072|MESH:D002524|MESH:D034141 C10.228.140.252.190/C538013|C10.597.350.090.500/C538013|C10.597.606.881.350/C538013|C15.378.147.607.500/C538013|C23.888.592.350.090.200/C538013|C23.888.592.604.882.350/C538013 C10.228.140.252.190|C10.597.350.090.500|C10.597.606.881.350|C15.378.147.607.500|C23.888.592.350.090.200|C23.888.592.604.882.350 AOA|AOA1|Ataxia, Adult-Onset, With Oculomotor Apraxia|Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia|Ataxia-oculomotor apraxia 1|Ataxia-oculomotor apraxia syndrome|Ataxia-telangiectasia-like syndrome|Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia|CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA;EOCA-HA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED|EAOH|Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia|Early-onset cerebellar ataxia with hypoalbuminemia Blood disease|Nervous system disease|Signs and symptoms Early-Onset Glaucoma MESH:C580055 MESH:D005901 C11.525.381/C580055 C11.525.381 Hereditary Glaucoma Eye disease Ear Neoplasms MESH:D004428 DO:DOID:5101|DO:DOID:833 Tumors or cancer of any part of the hearing and equilibrium system of the body (the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR). MESH:D004427|MESH:D010039 C04.588.443.665.312|C09.218.334|C09.647.312 C04.588.443.665|C09.218|C09.647 Auricular Cancer|Auricular Cancers|Auricular Neoplasms|Cancer, Auricular|Cancer of Ear|Cancer of Ear Auricle|Cancer of the Ear|Cancers, Auricular|Ear Auricle Cancer|Ear Auricle Cancers|Ear Auricle Neoplasm|Ear Auricle Neoplasms|Ear Cancer|Ear Neoplasm|Neoplasm, Ear|Neoplasms, Auricular|Neoplasms, Ear|Neoplasms of Ear Auricle Cancer|Ear-nose-throat disease Ebstein Anomaly MESH:D004437 DO:DOID:14289|OMIM:224700 A congenital heart defect characterized by downward or apical displacement of the TRICUSPID VALVE, usually with the septal and posterior leaflets being attached to the wall of the RIGHT VENTRICLE. It is characterized by a huge RIGHT ATRIUM and a small and less effective right ventricle. MESH:D006330 C14.240.400.395|C14.280.400.395|C16.131.240.400.395 C14.240.400|C14.280.400|C16.131.240.400 Anomaly, Ebstein|Anomaly, Ebstein's|Ebstein Malformation|Ebstein's Anomaly|Ebsteins Anomaly|Ebstein's Anomaly, Familial|Ebstein's Malformation|Ebsteins Malformation|Familial Ebstein Anomaly|Familial Ebstein's Anomaly|Familial Ebsteins Anomaly|Malformation, Ebstein's Cardiovascular disease|Congenital abnormality Ecchymosis MESH:D004438 Extravasation of blood into the skin, resulting in a nonelevated, rounded or irregular, blue or purplish patch, larger than a petechia. MESH:D001778|MESH:D006470|MESH:D012877 C15.378.100.452|C23.550.414.625|C23.888.885.312 C15.378.100|C23.550.414|C23.888.885 Ecchymoses Blood disease|Pathology (process)|Signs and symptoms Eccrine Porocarcinoma MESH:D057090 DO:DOID:7566 A rare malignant neoplasm of the sweat glands. It most often develops as a form of degenerative progression from a benign ECCRINE POROMA. MESH:D000230 C04.557.470.200.025.500 C04.557.470.200.025 Eccrine Porocarcinomas|Eccrine Poroma, Malignant|Eccrine Poromas, Malignant|Malignant Eccrine Poroma|Malignant Eccrine Poromas|Porocarcinoma, Eccrine|Porocarcinomas, Eccrine|Poroma, Malignant Eccrine|Poromas, Malignant Eccrine Cancer Eccrine Syringofibroadenomatosis with Eyelid Abnormalities MESH:C566347 MESH:D005141|MESH:D018226 C04.557.450.565.590.595.350/C566347|C04.557.470.625.350/C566347|C11.338/C566347 C04.557.450.565.590.595.350|C04.557.470.625.350|C11.338 Cancer|Eye disease Echinococcosis MESH:D004443 DO:DOID:1496 An infection caused by the infestation of the larval form of tapeworms of the genus Echinococcus. The liver, lungs, and kidney are the most common areas of infestation. MESH:D002590 C01.610.335.190.396 C01.610.335.190 Cyst, Hydatid|Cystic Echinococcoses|Cystic Echinococcosis|Cysts, Hydatid|Echinococcoses|Echinococcoses, Cystic|Echinococcosis, Cystic|Echinococcus Granulosus Infection|Echinococcus Granulosus Infections|Echinococcus Infection|Echinococcus Infections|Granulosus Infection, Echinococcus|Granulosus Infections, Echinococcus|Hydatid Cyst|Hydatid Cysts|Hydatid Disease|Hydatid Diseases|Hydatidoses|Hydatidosis|Infection, Echinococcus|Infection, Echinococcus Granulosus|Infections, Echinococcus Granulosus Parasitic disease Echinococcosis, Hepatic MESH:D004444 Liver disease caused by infections with parasitic tapeworms of the genus ECHINOCOCCUS, such as Echinococcus granulosus or Echinococcus multilocularis. Ingested Echinococcus ova burrow into the intestinal mucosa. The larval migration to the liver via the PORTAL VEIN leads to watery vesicles (HYDATID CYST). MESH:D004443|MESH:D008109 C01.610.335.190.396.314|C01.610.518.314|C06.552.664.272 C01.610.335.190.396|C01.610.518|C06.552.664 Alveolar Echinococcosis, Hepatic|Cyst, Hepatic Hydatid|Cysts, Hepatic Hydatid|Echinococcosis, Hepatic Alveolar|Hepatic Alveolar Echinococcosis|Hepatic Echinococcosis|Hepatic Hydatid Cyst|Hepatic Hydatid Cysts|Hepatic Hydatidosis|Hydatid Cyst, Hepatic|Hydatid Cysts, Hepatic|Hydatidosis, Hepatic Digestive system disease|Parasitic disease Echinococcosis, Pulmonary MESH:D004445 Helminth infection of the lung caused by Echinococcus granulosus or Echinococcus multilocularis. MESH:D004443|MESH:D008174 C01.610.335.190.396.480|C01.610.582.314|C01.748.450.314|C08.381.517.314|C08.730.450.314 C01.610.335.190.396|C01.610.582|C01.748.450|C08.381.517|C08.730.450 Cyst, Pulmonary Hydatid|Cysts, Pulmonary Hydatid|Echinococcoses, Pulmonary|Hydatid Cyst, Pulmonary|Hydatid Cysts, Pulmonary|Hydatidoses, Pulmonary|Hydatidosis, Pulmonary|Pulmonary Echinococcoses|Pulmonary Echinococcosis|Pulmonary Hydatid Cyst|Pulmonary Hydatid Cysts|Pulmonary Hydatidoses|Pulmonary Hydatidosis Parasitic disease|Respiratory tract disease Echinostomiasis MESH:D004451 DO:DOID:1218 Infection by flukes of the genus Echinostoma. MESH:D014201 C01.610.335.865.282 C01.610.335.865 Echinostomiases Parasitic disease Echogenic Bowel MESH:D058535 A PRENATAL ULTRASONOGRAPHY finding of excessively dense fetal bowel due to MECONIUM buildup. MESH:D005315 C12.050.703.277.050|C16.300.050 C12.050.703.277|C16.300 Echogenic Bowels|Hyperechogenic Bowel|Hyperechogenic Bowels Fetal disease|Pregnancy complication Echolalia MESH:D004454 DO:DOID:4188 Involuntary ('parrot-like'), meaningless repetition of a recently heard word, phrase, or song. This condition may be associated with transcortical APHASIA; SCHIZOPHRENIA; or other disorders. (From Adams et al., Principles of Neurology, 6th ed, p485) MESH:D013064 C10.597.606.150.500.800.300|C23.888.592.604.150.500.800.300 C10.597.606.150.500.800|C23.888.592.604.150.500.800 Echophrasia|Echo Reaction|Echo Speech|Reaction, Echo|Reactions, Echo|Speech, Echo Nervous system disease|Signs and symptoms Echo Virus 11 Sensitivity MESH:C565071 OMIM:129150 MESH:D004198|MESH:D004457 C01.925.782.687.359.347/C565071|C23.550.291.687/C565071 C01.925.782.687.359.347|C23.550.291.687 E11S Pathology (process)|Viral disease Echovirus Infections MESH:D004457 Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses. MESH:D004769 C01.925.782.687.359.347 C01.925.782.687.359 Echovirus Infection|Echo Virus Infection|Echo Virus Infections|Infection, Echovirus|Infection, Echo Virus|Infections, Echovirus|Infections, Echo Virus Viral disease Eclampsia MESH:D004461 DO:DOID:13593 Onset of HYPERREFLEXIA; SEIZURES; or COMA in a previously diagnosed pre-eclamptic patient (PRE-ECLAMPSIA). MESH:D046110 C12.050.703.395.124 C12.050.703.395 Eclampsias Pregnancy complication Ecthyma MESH:D004473 DO:DOID:11907 An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed) MESH:D011711|MESH:D013290|MESH:D017192 C01.150.252.410.890.168|C01.150.252.819.210|C01.800.720.210|C17.800.695.210|C17.800.838.765.210 C01.150.252.410.890|C01.150.252.819|C01.800.720|C17.800.695|C17.800.838.765 Bacterial infection or mycosis|Skin disease Ecthyma, Contagious MESH:D004474 DO:DOID:8771 An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to man. MESH:D011213|MESH:D012757 C01.925.256.743.193|C22.836.259 C01.925.256.743|C22.836 Contagious Ecthyma|Contagious Pustular Dermatitides|Contagious Pustular Dermatitis|Dermatitides, Contagious Pustular|Dermatitis, Contagious Pustular|Infection, Orf Virus|Infections, Orf Virus|Orf Virus Infection|Orf Virus Infections|Pustular Dermatitides, Contagious|Pustular Dermatitis, Contagious|Virus Infection, Orf|Virus Infections, Orf Animal disease|Viral disease Ectodermal Dysplasia MESH:D004476 DO:DOID:14693|DO:DOID:2121|OMIM:107600|OMIM:129500 A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita. MESH:D000015|MESH:D012868|MESH:D012873 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 C16.131.077|C16.131.831|C16.320.850|C17.800.804|C17.800.827 ACC|Anhidrotic Ectodermal Dysplasia|Anhidrotic, Ectodermal Dysplasia|Anhidrotic Ectodermal Dysplasias|Anhidrotics, Ectodermal Dysplasia|Anhydrotic Ectodermal Dysplasia|Anhydrotic Ectodermal Dysplasias|Aplasia Cutis Congenita|Aplasia Cutis Congenita, Nonsyndromic|Autosomal Dominant Hidrotic Ectodermal Dysplasia|Clouston Hidrotic Ectodermal Dysplasia|Clouston's Hidrotic Ectodermal Dysplasia|Clouston's Syndrome|Cloustons Syndrome|Clouston Syndrome|CONGENITAL DEFECT OF SKULL AND SCALP|Congenital Ectodermal Defect|Congenital Ectodermal Defects|Defect, Congenital Ectodermal|Defects, Congenital Ectodermal|Dysplasia Anhidrotic, Ectodermal|Dysplasia, Anhidrotic Ectodermal|Dysplasia Anhidrotics, Ectodermal|Dysplasia, Anhydrotic Ectodermal|Dysplasia, Ectodermal|Dysplasia, Hidrotic Ectodermal|Dysplasia, Hydrotic Ectodermal|Dysplasias, Anhidrotic Ectodermal|Dysplasias, Anhydrotic Ectodermal|Dysplasias, Ectodermal|Dysplasias, Hidrotic Ectodermal|Dysplasias, Hydrotic Ectodermal|ECTD2|Ectodermal Defect, Congenital|Ectodermal Defects, Congenital|ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE|Ectodermal Dysplasia 2, Hidrotic|Ectodermal Dysplasia Anhidrotic|Ectodermal Dysplasia, Anhidrotic|Ectodermal Dysplasia, Anhydrotic|Ectodermal Dysplasia, Hidrotic|ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY|Ectodermal Dysplasia, Hidrotic, Autosomal Dominant|Ectodermal Dysplasia, Hydrotic|Ectodermal Dysplasias|Ectodermal Dysplasias, Anhidrotic|Ectodermal Dysplasias, Anhydrotic|Ectodermal Dysplasias, Hydrotic|HED2, FORMERLY|Hidrotic Ectodermal Dysplasia|Hidrotic Ectodermal Dysplasia, Autosomal Dominant|Hidrotic Ectodermal Dysplasias|Hydrotic Ectodermal Dysplasia|Hydrotic Ectodermal Dysplasias|SCALP DEFECT, CONGENITAL|Syndrome, Clouston|Syndrome, Clouston's Congenital abnormality|Genetic disease (inborn)|Skin disease ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT OMIM:614940 DO:DOID:0111653 MESH:D004476 C16.131.077.350/614940|C16.131.831.350/614940|C16.320.850.250/614940|C17.800.804.350/614940|C17.800.827.250/614940 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 ECTD11A|ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT|HED Congenital abnormality|Genetic disease (inborn)|Skin disease ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE OMIM:617337 DO:DOID:0111652 MESH:D004476 C16.131.077.350/617337|C16.131.831.350/617337|C16.320.850.250/617337|C17.800.804.350/617337|C17.800.827.250/617337 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 ECTD12 Congenital abnormality|Genetic disease (inborn)|Skin disease ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE OMIM:617392 DO:DOID:0111650 MESH:D004476 C16.131.077.350/617392|C16.131.831.350/617392|C16.320.850.250/617392|C17.800.804.350/617392|C17.800.827.250/617392 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 ECTD13 Congenital abnormality|Genetic disease (inborn)|Skin disease Ectodermal Dysplasia 1, Anhidrotic MESH:D053358 DO:DOID:0111664|DO:DOID:14793|OMIM:305100 An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN. MESH:D004476|MESH:D040181 C16.131.077.350.198|C16.131.831.350.198|C16.320.322.116|C16.320.850.250.198|C17.800.804.350.198|C17.800.827.250.198 C16.131.077.350|C16.131.831.350|C16.320.322|C16.320.850.250|C17.800.804.350|C17.800.827.250 Anhidrotic Ectodermal Dysplasia, X Linked|Anhidrotic Ectodermal Dysplasia, X-Linked|Anhydrotic Ectodermal Dysplasia, X Linked|Anhydrotic Ectodermal Dysplasia, X-Linked|Christ Siemens Touraine Syndrome|Christ-Siemens-Touraine Syndrome|CST Syndrome|CST Syndromes|Dysplasia 1, Ectodermal|ECTD1|Ectodermal Dysplasia 1|Ectodermal Dysplasia 1, Anhydrotic|ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED|ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED|Ectodermal Dysplasia 1s|Ectodermal Dysplasia, Anhidrotic, X-Linked|ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1|Ectodermal Dysplasia, Hypohidrotic, X-Linked|Ectodermal Dysplasia, Hypohydridic, X-Linked|ED1|EDA|EDA1|HED1|Hypohidrotic Ectodermal Dysplasia|Syndrome, CST|Syndromes, CST|XHED|XLHED|X Linked Hypohydridic Ectodermal Dysplasia|X-Linked Hypohydridic Ectodermal Dysplasia Congenital abnormality|Genetic disease (inborn)|Skin disease Ectodermal Dysplasia 3, Anhidrotic MESH:D053359 OMIM:129490 An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR. MESH:D004476 C16.131.077.350.298|C16.131.831.350.298|C16.320.850.250.298|C17.800.804.350.298|C17.800.827.250.298 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 ECTD10A|ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT|Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant|HED Congenital abnormality|Genetic disease (inborn)|Skin disease ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE OMIM:602032 DO:DOID:0111658 MESH:D004476|MESH:D006201|MESH:D009260 C16.131.077.350/602032|C16.131.831.350/602032|C16.320.850.250/602032|C17.800.329/602032|C17.800.529/602032|C17.800.804.350/602032|C17.800.827.250/602032 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.329|C17.800.529|C17.800.804.350|C17.800.827.250 ECTD4|ECTODERMAL DYSPLASIA, 'PURE' HAIR/NAIL TYPE Congenital abnormality|Genetic disease (inborn)|Skin disease ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE OMIM:614929 DO:DOID:0111660 MESH:D004476 C16.131.077.350/614929|C16.131.831.350/614929|C16.320.850.250/614929|C17.800.804.350/614929|C17.800.827.250/614929 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 ECTD7 Congenital abnormality|Genetic disease (inborn)|Skin disease ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE OMIM:614931 DO:DOID:0111656 MESH:D004476 C16.131.077.350/614931|C16.131.831.350/614931|C16.320.850.250/614931|C17.800.804.350/614931|C17.800.827.250/614931 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 ECTD9 Congenital abnormality|Genetic disease (inborn)|Skin disease Ectodermal dysplasia adrenal cyst MESH:C538015 MESH:D000307|MESH:D003560|MESH:D004476 C04.182/C538015|C16.131.077.350/C538015|C16.131.831.350/C538015|C16.320.850.250/C538015|C17.800.804.350/C538015|C17.800.827.250/C538015|C19.053/C538015|C23.300.306/C538015 C04.182|C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C19.053|C23.300.306 Adrenal cyst with ectodermal dysplasia|Ectodermal Dysplasia with Adrenal Cyst Cancer|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease Ectodermal dysplasia alopecia preaxial polydactyly MESH:C538016 MESH:D000505|MESH:D004476|MESH:D017689|MESH:D019066 C05.660.585.600/C538016|C16.131.077.350/C538016|C16.131.621.585.600/C538016|C16.131.831.350/C538016|C16.320.850.250/C538016|C17.800.329.937.122/C538016|C17.800.804.350/C538016|C17.800.827.250/C538016|C23.300.035/C538016|C23.550.291.812/C538016 C05.660.585.600|C16.131.077.350|C16.131.621.585.600|C16.131.831.350|C16.320.850.250|C17.800.329.937.122|C17.800.804.350|C17.800.827.250|C23.300.035|C23.550.291.812 Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process)|Skin disease Ectodermal Dysplasia and Neurosensory Deafness MESH:C565606 MESH:D004476|MESH:D006319 C09.218.458.341.887/C565606|C10.597.751.418.341.887/C565606|C16.131.077.350/C565606|C16.131.831.350/C565606|C16.320.850.250/C565606|C17.800.804.350/C565606|C17.800.827.250/C565606|C23.888.592.763.393.341.887/C565606 C09.218.458.341.887|C10.597.751.418.341.887|C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.888.592.763.393.341.887 Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema MESH:C564538 MESH:D000081207|MESH:D004476|MESH:D008209|MESH:D010022|MESH:D040181 C05.116.099.708.702.678/C564538|C15.604.496/C564538|C16.131.077.350/C564538|C16.131.831.350/C564538|C16.320.322/C564538|C16.320.798/C564538|C16.320.850.250/C564538|C17.800.804.350/C564538|C17.800.827.250/C564538|C20.673.795/C564538 C05.116.099.708.702.678|C15.604.496|C16.131.077.350|C16.131.831.350|C16.320.322|C16.320.798|C16.320.850.250|C17.800.804.350|C17.800.827.250|C20.673.795 OLEDAID|OL-EDA-ID Syndrome Congenital abnormality|Genetic disease (inborn)|Immune system disease|Lymphatic disease|Musculoskeletal disease|Skin disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant MESH:C567411 OMIM:612132 MESH:D000081207|MESH:D004476 C16.131.077.350/C567411|C16.131.831.350/C567411|C16.320.798/C567411|C16.320.850.250/C567411|C17.800.804.350/C567411|C17.800.827.250/C567411|C20.673.795/C567411 C16.131.077.350|C16.131.831.350|C16.320.798|C16.320.850.250|C17.800.804.350|C17.800.827.250|C20.673.795 ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2|ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY 2|ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT|ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNODEFICIENCY 2|EDAID2 Congenital abnormality|Genetic disease (inborn)|Immune system disease|Skin disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy MESH:C536190 OMIM:225280 MESH:D004476|MESH:D006228|MESH:D008268 C05.390.408/C536190|C05.660.585.988.425/C536190|C11.768.585.439/C536190|C16.131.077.350/C536190|C16.131.621.585.988.500/C536190|C16.131.831.350/C536190|C16.320.850.250/C536190|C17.800.804.350/C536190|C17.800.827.250/C536190 C05.390.408|C05.660.585.988.425|C11.768.585.439|C16.131.077.350|C16.131.621.585.988.500|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME|Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy|EEMS|EEM Syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Ectodermal Dysplasia, Hidrotic, Autosomal Recessive MESH:C566553 MESH:D004476 C16.131.077.350/C566553|C16.131.831.350/C566553|C16.320.850.250/C566553|C17.800.804.350/C566553|C17.800.827.250/C566553 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Congenital abnormality|Genetic disease (inborn)|Skin disease Ectodermal dysplasia, hidrotic, Christianson-Fourie type MESH:C536180 MESH:D004476 C16.131.077.350/C536180|C16.131.831.350/C536180|C16.320.850.250/C536180|C17.800.804.350/C536180|C17.800.827.250/C536180 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Congenital abnormality|Genetic disease (inborn)|Skin disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive MESH:D053360 OMIM:224900|OMIM:614941 An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN. MESH:D004476 C16.131.077.350.348|C16.131.831.350.348|C16.320.850.250.348|C17.800.804.350.348|C17.800.827.250.348 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Anhidridic Ectodermal Dysplasia, Autosomal Recessive|Anhidrotic Ectodermal Dysplasia, Autosomal Recessive|Anhydridic Ectodermal Dysplasia, Autosomal Recessive|Autosomal Recessive Anhidrotic Ectodermal Dysplasia|Autosomal Recessive Anhydrotic Ectodermal Dysplasia|ECTD10B|ECTD11B|ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE|ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE|ECTODERMAL DYSPLASIA, ANHIDROTIC|Ectodermal Dysplasia, Anhidrotic, Autosomal Recessive|ECTODERMAL DYSPLASIA, HYPOHIDROTIC|Ectodermal Dysplasia, Hypohydrotic, Autosomal Recessive|EDA|HED Congenital abnormality|Genetic disease (inborn)|Skin disease Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum MESH:C565605 MESH:D003409|MESH:D004476|MESH:D008607|MESH:D061085 C05.116.099.343.347/C565605|C05.116.132.256/C565605|C10.500.034/C565605|C10.597.606.360/C565605|C16.131.077.350/C565605|C16.131.666.034/C565605|C16.131.831.350/C565605|C16.320.240.625/C565605|C16.320.850.250/C565605|C17.800.804.350/C565605|C17.800.827.250/C565605|C19.297.155/C565605|C19.874.482.281/C565605|C23.300.008/C565605|C23.888.592.604.646/C565605|F03.625.539/C565605 C05.116.099.343.347|C05.116.132.256|C10.500.034|C10.597.606.360|C16.131.077.350|C16.131.666.034|C16.131.831.350|C16.320.240.625|C16.320.850.250|C17.800.804.350|C17.800.827.250|C19.297.155|C19.874.482.281|C23.300.008|C23.888.592.604.646|F03.625.539 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia MESH:C565604 MESH:D002925|MESH:D004476|MESH:D007007|MESH:D007037 C08.200/C565604|C09.150/C565604|C16.131.077.245.500/C565604|C16.131.077.350/C565604|C16.131.831.350/C565604|C16.320.184.500/C565604|C16.320.850.250/C565604|C17.800.804.350/C565604|C17.800.827.250/C565604|C17.800.946.370/C565604|C19.874.482/C565604 C08.200|C09.150|C16.131.077.245.500|C16.131.077.350|C16.131.831.350|C16.320.184.500|C16.320.850.250|C17.800.804.350|C17.800.827.250|C17.800.946.370|C19.874.482 Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Respiratory tract disease|Skin disease Ectodermal dysplasia, hypohidrotic, with immune deficiency MESH:C536181 OMIM:300291 MESH:D000081207|MESH:D004476|MESH:D040181 C16.131.077.350/C536181|C16.131.831.350/C536181|C16.320.322/C536181|C16.320.798/C536181|C16.320.850.250/C536181|C17.800.804.350/C536181|C17.800.827.250/C536181|C20.673.795/C536181 C16.131.077.350|C16.131.831.350|C16.320.322|C16.320.798|C16.320.850.250|C17.800.804.350|C17.800.827.250|C20.673.795 ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1|Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency|ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA|ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY|Eda-Id|EDAID1|HED-ID|HEDID|HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA|OLEDAID|XHMED Congenital abnormality|Genetic disease (inborn)|Immune system disease|Skin disease Ectodermal dysplasia mental retardation syndactyly MESH:C538018 MESH:D004476|MESH:D008607|MESH:D013576 C05.116.099.370.894.819/C538018|C05.660.585.800/C538018|C05.660.906.819/C538018|C10.597.606.360/C538018|C16.131.077.350/C538018|C16.131.621.585.800/C538018|C16.131.621.906.819/C538018|C16.131.831.350/C538018|C16.320.850.250/C538018|C17.800.804.350/C538018|C17.800.827.250/C538018|C23.888.592.604.646/C538018|F03.625.539/C538018 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C10.597.606.360|C16.131.077.350|C16.131.621.585.800|C16.131.621.906.819|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.888.592.604.646|F03.625.539 Ectodermal dysplasia with mental retardation and syndactyly Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Ectodermal Dysplasia, Pure Hair-Nail Type MESH:C566592 DO:DOID:0111655 MESH:D004476 C16.131.077.350/C566592|C16.131.831.350/C566592|C16.320.850.250/C566592|C17.800.804.350/C566592|C17.800.827.250/C566592 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Congenital abnormality|Genetic disease (inborn)|Skin disease Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features MESH:C536182 MESH:D004476|MESH:D006319|MESH:D019066 C09.218.458.341.887/C536182|C10.597.751.418.341.887/C536182|C16.131.077.350/C536182|C16.131.831.350/C536182|C16.320.850.250/C536182|C17.800.804.350/C536182|C17.800.827.250/C536182|C23.550.291.812/C536182|C23.888.592.763.393.341.887/C536182 C09.218.458.341.887|C10.597.751.418.341.887|C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.550.291.812|C23.888.592.763.393.341.887 Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME OMIM:616029 MESH:D004476|MESH:D006130 C16.131.077.350/616029|C16.131.831.350/616029|C16.320.850.250/616029|C17.800.804.350/616029|C17.800.827.250/616029|C23.550.393/616029 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.550.393 ECTDS Congenital abnormality|Genetic disease (inborn)|Pathology (process)|Skin disease Ectodermal Dysplasia-Skin Fragility Syndrome MESH:C536183 OMIM:604536 MESH:D004476|MESH:D012871 C16.131.077.350/C536183|C16.131.831.350/C536183|C16.320.850.250/C536183|C17.800.804.350/C536183|C17.800.827.250/C536183|C17.800/C536183 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800|C17.800.804.350|C17.800.827.250 Ectodermal dysplasia- skin fragility syndrome|ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME|EDSFS|Mcgrath syndrome Congenital abnormality|Genetic disease (inborn)|Skin disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 OMIM:613573 MESH:D004476|MESH:D013576 C05.116.099.370.894.819/613573|C05.660.585.800/613573|C05.660.906.819/613573|C16.131.077.350/613573|C16.131.621.585.800/613573|C16.131.621.906.819/613573|C16.131.831.350/613573|C16.320.850.250/613573|C17.800.804.350/613573|C17.800.827.250/613573 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.077.350|C16.131.621.585.800|C16.131.621.906.819|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 EDSS1 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 OMIM:613576 MESH:D004476|MESH:D013576 C05.116.099.370.894.819/613576|C05.660.585.800/613576|C05.660.906.819/613576|C16.131.077.350/613576|C16.131.621.585.800/613576|C16.131.621.906.819/613576|C16.131.831.350/613576|C16.320.850.250/613576|C17.800.804.350/613576|C17.800.827.250/613576 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.077.350|C16.131.621.585.800|C16.131.621.906.819|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 EDSS2 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet MESH:C565067 MESH:D000505|MESH:D004476|MESH:D017689|MESH:D019066 C05.660.585.600/C565067|C16.131.077.350/C565067|C16.131.621.585.600/C565067|C16.131.831.350/C565067|C16.320.850.250/C565067|C17.800.329.937.122/C565067|C17.800.804.350/C565067|C17.800.827.250/C565067|C23.300.035/C565067|C23.550.291.812/C565067 C05.660.585.600|C16.131.077.350|C16.131.621.585.600|C16.131.831.350|C16.320.850.250|C17.800.329.937.122|C17.800.804.350|C17.800.827.250|C23.300.035|C23.550.291.812 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process)|Skin disease Ectodermal Dysplasia, Trichoodontoonychial Type MESH:C565068 MESH:D000848|MESH:D004476|MESH:D007039 C07.650.800.100/C565068|C07.793.700.100/C565068|C16.131.077.350/C565068|C16.131.831.350/C565068|C16.131.850.800.100/C565068|C16.320.850.250/C565068|C17.800.329.937/C565068|C17.800.804.350/C565068|C17.800.827.250/C565068 C07.650.800.100|C07.793.700.100|C16.131.077.350|C16.131.831.350|C16.131.850.800.100|C16.320.850.250|C17.800.329.937|C17.800.804.350|C17.800.827.250 Congenital abnormality|Genetic disease (inborn)|Mouth disease|Skin disease Ectodermal Dysplasia with Natal Teeth, Turnpenny Type MESH:C563347 MESH:D004476 C16.131.077.350/C563347|C16.131.831.350/C563347|C16.320.850.250/C563347|C17.800.804.350/C563347|C17.800.827.250/C563347 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Congenital abnormality|Genetic disease (inborn)|Skin disease Ectoparasitic Infestations MESH:D004478 DO:DOID:4110 Infestations by PARASITES which live on, or burrow into, the surface of their host's EPIDERMIS. Most ectoparasites are ARTHROPODS. MESH:D012876 C01.610.858.211 C01.610.858 Ectoparasitic Infestation|Infestation, Ectoparasitic|Infestations, Ectoparasitic Parasitic disease Ectopia Cordis MESH:D054083 A rare developmental defect in which the heart is abnormally located partially or totally outside the THORAX. It is the result of defective fusion of the anterior chest wall. Depending on the location of the heart, ectopia cordis can be thoracic, thoracoabdominal, abdominal, and cervical. MESH:D006330 C14.240.400.422|C16.131.240.400.422 C14.240.400|C16.131.240.400 Cordis, Ectopia Cardiovascular disease|Congenital abnormality Ectopia Lentis MESH:D004479 DO:DOID:0111148 Congenital displacement of the lens resulting from defective zonule formation. MESH:D005124|MESH:D007906 C11.250.300|C11.510.598.373|C16.131.384.405 C11.250|C11.510.598|C16.131.384 Lentis, Ectopia Congenital abnormality|Eye disease ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT OMIM:129600 DO:DOID:0111150 MESH:C536184 C11.250.300/C536184/129600|C11.510.598.373/C536184/129600|C16.131.384.405/C536184/129600 C11.250.300/C536184|C11.510.598.373/C536184|C16.131.384.405/C536184 ECTOL1 Congenital abnormality|Eye disease ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE OMIM:225100 DO:DOID:0111149 MESH:C567124 C11.250.300/C567124/225100|C11.510.598.373/C567124/225100|C16.131.384.405/C567124/225100 C11.250.300/C567124|C11.510.598.373/C567124|C16.131.384.405/C567124 ECTOL2 Congenital abnormality|Eye disease Ectopia Lentis, Isolated, Autosomal Recessive MESH:C567124 MESH:D004479 C11.250.300/C567124|C11.510.598.373/C567124|C16.131.384.405/C567124 C11.250.300|C11.510.598.373|C16.131.384.405 Congenital abnormality|Eye disease Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism MESH:C563293 OMIM:601552 MESH:D004479|MESH:D019465 C05.660.207/C563293|C11.250.300/C563293|C11.510.598.373/C563293|C16.131.384.405/C563293|C16.131.621.207/C563293 C05.660.207|C11.250.300|C11.510.598.373|C16.131.384.405|C16.131.621.207 ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM|FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS|FDLAB|SHAWAF-TRABOULSI SYNDROME|TRABOULSI SYNDROME Congenital abnormality|Eye disease|Musculoskeletal disease Ectopia Lentis with Ectopia of Pupil MESH:C563268 DO:DOID:0111648|OMIM:225200 MESH:D004479|MESH:D011681 C10.597.690/C563268|C11.250.300/C563268|C11.510.598.373/C563268|C11.710/C563268|C16.131.384.405/C563268|C23.888.592.708/C563268 C10.597.690|C11.250.300|C11.510.598.373|C11.710|C16.131.384.405|C23.888.592.708 Ectopia Lentis et Pupillae|ECTOPIA LENTIS WITH ECTOPIA OF PUPIL Congenital abnormality|Eye disease|Nervous system disease|Signs and symptoms Ectopia pupillae MESH:C536185 OMIM:129750 MESH:D011681 C10.597.690/C536185|C11.710/C536185|C23.888.592.708/C536185 C10.597.690|C11.710|C23.888.592.708 Familial ectopic pupil Eye disease|Nervous system disease|Signs and symptoms Ectrodactyly MESH:C574275 DO:DOID:0090020|DO:DOID:0090022|DO:DOID:0090023|DO:DOID:0090025|DO:DOID:0090026|DO:DOID:0090027|OMIM:183600 MESH:D017880 C05.660.585/C574275|C16.131.621.585/C574275 C05.660.585|C16.131.621.585 ECD|ECTRODACTYLY|SHFD1|SHFM1|SHSF1|Split-hand deformity|Split hand foot deformity 1|Split-Hand-Foot Deformity 1|SPLIT-HAND/FOOT DEFORMITY 1|Split hand foot malformation 1|Split-Hand-Foot Malformation 1|SPLIT-HAND/FOOT MALFORMATION 1|SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS Congenital abnormality|Musculoskeletal disease Ectrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate MESH:C565065 MESH:D004476|MESH:D005532|MESH:D006228 C05.330.495/C565065|C05.390.408/C565065|C05.660.585.512.380/C565065|C05.660.585.988.425/C565065|C16.131.077.350/C565065|C16.131.621.585.512.500/C565065|C16.131.621.585.988.500/C565065|C16.131.831.350/C565065|C16.320.850.250/C565065|C17.800.804.350/C565065|C17.800.827.250/C565065 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.077.350|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Ectrodactyly cardiopathy dysmorphism MESH:C536187 MESH:D000015|MESH:D006330|MESH:D019066|MESH:D038061 C05.660.585.512/C536187|C14.240.400/C536187|C14.280.400/C536187|C16.131.077/C536187|C16.131.240.400/C536187|C16.131.621.585.512/C536187|C23.550.291.812/C536187 C05.660.585.512|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.585.512|C23.550.291.812 Ectrodactyly of lower limbs, congenital heart defect and characteristic facies|Van Den Ende Brunner syndrome Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Pathology (process) Ectrodactyly-cleft lip-palate syndrome MESH:C536189 DO:DOID:0060782|DO:DOID:0060783|DO:DOID:0060784 MESH:D002971|MESH:D002972|MESH:D004476 C05.500.460.185/C536189|C05.660.207.540.460.185/C536189|C07.320.440.185/C536189|C07.465.409.225/C536189|C07.465.525.164/C536189|C07.465.525.185/C536189|C07.650.500.460.185/C536189|C07.650.525.164/C536189|C07.650.525.185/C536189|C16.131.077.350/C536189|C16.131.621.207.540.460.185/C536189|C16.131.831.350/C536189|C16.131.850.500.460.185/C536189|C16.131.850.525.164/C536189|C16.131.850.525.185/C536189|C16.320.850.250/C536189|C17.800.804.350/C536189|C17.800.827.250/C536189 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.077.350|C16.131.621.207.540.460.185|C16.131.831.350|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.320.850.250|C17.800.804.350|C17.800.827.250 Cleft lip-cleft palate-lobster claw deformity syndrome|Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome|EEC syndrome|Rudiger syndrome 1|Walker-Clodius syndrome Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Ectrodactyly-Cleft Palate Syndrome MESH:C565064 MESH:D002972|MESH:D006228 C05.390.408/C565064|C05.500.460.185/C565064|C05.660.207.540.460.185/C565064|C05.660.585.988.425/C565064|C07.320.440.185/C565064|C07.465.525.185/C565064|C07.650.500.460.185/C565064|C07.650.525.185/C565064|C16.131.621.207.540.460.185/C565064|C16.131.621.585.988.500/C565064|C16.131.850.500.460.185/C565064|C16.131.850.525.185/C565064 C05.390.408|C05.500.460.185|C05.660.207.540.460.185|C05.660.585.988.425|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.621.585.988.500|C16.131.850.500.460.185|C16.131.850.525.185 Congenital abnormality|Mouth disease|Musculoskeletal disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 MESH:C565062 OMIM:129900 MESH:D002971|MESH:D002972|MESH:D004476|MESH:D006228 C05.390.408/C565062|C05.500.460.185/C565062|C05.660.207.540.460.185/C565062|C05.660.585.988.425/C565062|C07.320.440.185/C565062|C07.465.409.225/C565062|C07.465.525.164/C565062|C07.465.525.185/C565062|C07.650.500.460.185/C565062|C07.650.525.164/C565062|C07.650.525.185/C565062|C16.131.077.350/C565062|C16.131.621.207.540.460.185/C565062|C16.131.621.585.988.500/C565062|C16.131.831.350/C565062|C16.131.850.500.460.185/C565062|C16.131.850.525.164/C565062|C16.131.850.525.185/C565062|C16.320.850.250/C565062|C17.800.804.350/C565062|C17.800.827.250/C565062 C05.390.408|C05.500.460.185|C05.660.207.540.460.185|C05.660.585.988.425|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.077.350|C16.131.621.207.540.460.185|C16.131.621.585.988.500|C16.131.831.350|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.320.850.250|C17.800.804.350|C17.800.827.250 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1|EEC|EEC1|EEC Syndrome 1 Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 MESH:C565799 OMIM:604292 MESH:D002971|MESH:D002972|MESH:D004476|MESH:D005532|MESH:D006228 C05.330.495/C565799|C05.390.408/C565799|C05.500.460.185/C565799|C05.660.207.540.460.185/C565799|C05.660.585.512.380/C565799|C05.660.585.988.425/C565799|C07.320.440.185/C565799|C07.465.409.225/C565799|C07.465.525.164/C565799|C07.465.525.185/C565799|C07.650.500.460.185/C565799|C07.650.525.164/C565799|C07.650.525.185/C565799|C16.131.077.350/C565799|C16.131.621.207.540.460.185/C565799|C16.131.621.585.512.500/C565799|C16.131.621.585.988.500/C565799|C16.131.831.350/C565799|C16.131.850.500.460.185/C565799|C16.131.850.525.164/C565799|C16.131.850.525.185/C565799|C16.320.850.250/C565799|C17.800.804.350/C565799|C17.800.827.250/C565799 C05.330.495|C05.390.408|C05.500.460.185|C05.660.207.540.460.185|C05.660.585.512.380|C05.660.585.988.425|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.077.350|C16.131.621.207.540.460.185|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.131.831.350|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.320.850.250|C17.800.804.350|C17.800.827.250 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3|EEC3|EEC Syndrome 3 Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia MESH:C563344 MESH:D006330|MESH:D008844|MESH:D038061 C05.500.460.457/C563344|C05.660.207.540.460.457/C563344|C05.660.585.512/C563344|C07.320.440.457/C563344|C07.650.500.460.457/C563344|C14.240.400/C563344|C14.280.400/C563344|C16.131.240.400/C563344|C16.131.621.207.540.460.457/C563344|C16.131.621.585.512/C563344|C16.131.850.500.460.457/C563344 C05.500.460.457|C05.660.207.540.460.457|C05.660.585.512|C07.320.440.457|C07.650.500.460.457|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.540.460.457|C16.131.621.585.512|C16.131.850.500.460.457 Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease Ectrodactyly-Polydactyly MESH:C565601 MESH:D017880 C05.660.585/C565601|C16.131.621.585/C565601 C05.660.585|C16.131.621.585 Congenital abnormality|Musculoskeletal disease Ectromelia MESH:D004480 Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia. MESH:D017880 C05.660.585.350|C16.131.621.585.350 C05.660.585|C16.131.621.585 Amelia|Congenital Limb Reduction Deformities|Congenital Limb Reduction Deformity|Fused Legs and Feet|Hemimelia|Malformation, Mermaid|Mermaid Malformation|Mermaid Syndrome|Phocomelia|Sequence, Sirenomelia|Sirenomelia|Sirenomelia Sequence|Sirenomelia Sequences|Sirenomelus|Syndrome, Mermaid Congenital abnormality|Musculoskeletal disease Ectromelia, Infectious MESH:D004482 A viral infection of mice, causing edema and necrosis followed by limb loss. MESH:D011213|MESH:D012376 C01.925.256.743.239|C22.795.239 C01.925.256.743|C22.795 Infectious Ectromelia|Mousepox|Mouse Pox Animal disease|Viral disease Ectropion MESH:D004483 DO:DOID:1570 The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed) MESH:D005141 C11.338.362 C11.338 Ectropions Eye disease Eczema MESH:D004485 A pruritic papulovesicular dermatitis occurring as a reaction to many endogenous and exogenous agents (Dorland, 27th ed). MESH:D003872|MESH:D017443 C17.800.174.620|C17.800.815.620 C17.800.174|C17.800.815 Dermatitides, Eczematous|Dermatitis, Eczematous|Eczemas|Eczematous Dermatitides|Eczematous Dermatitis Skin disease Eczema, Dyshidrotic MESH:D011146 DO:DOID:9230 A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed) MESH:D004485|MESH:D012872 C17.800.174.620.300|C17.800.815.620.300|C17.800.865.385 C17.800.174.620|C17.800.815.620|C17.800.865 Dyshidrotic Eczema|Dyshidrotic Eczemas|Dyshydrotic Eczema|Dyshydrotic Eczemas|Eczema, Dyshydrotic|Eczemas, Dyshidrotic|Eczemas, Dyshydrotic|Eczemas, Vesicular Palmoplantar|Eczema, Vesicular Palmoplantar|Palmoplantar Eczemas, Vesicular|Palmoplantar Eczema, Vesicular|Pompholyx|Vesicular Palmoplantar Eczema|Vesicular Palmoplantar Eczemas Skin disease Edema MESH:D004487 Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE. MESH:D012816 C23.888.277 C23.888 Anasarca|Dropsy|Hydrops Signs and symptoms Edema, Cardiac MESH:D004489 Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME). MESH:D004487|MESH:D006333 C14.280.434.482|C23.888.277.197 C14.280.434|C23.888.277 Cardiac Edema|Cardiac Edemas|Edemas, Cardiac Cardiovascular disease|Signs and symptoms Edema Disease of Swine MESH:D004488 An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema. MESH:D013553 C22.905.260 C22.905 Swine Edema Disease|Swine Edema Diseases Animal disease Edema, Familial Idiopathic, Prepubertal MESH:C565063 MESH:D004487 C23.888.277/C565063 C23.888.277 Signs and symptoms EDICT SYNDROME OMIM:614303 MESH:D002386|MESH:D003317|MESH:D007499 C11.204.236/614303|C11.270.162/614303|C11.510.245/614303|C11.941.375/614303|C16.320.290.162/614303 C11.204.236|C11.270.162|C11.510.245|C11.941.375|C16.320.290.162 EDICT|ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME|KERATOCONUS, FAMILIAL, WITH EARLY-ONSET ANTERIOR POLAR CATARACT|KERATOCONUS WITH CATARACT|KTCNCT Eye disease|Genetic disease (inborn) Edinburgh Malformation Syndrome MESH:C563051 MESH:D002869|MESH:D005183|MESH:D006849|MESH:D011596|MESH:D019066|MESH:D025063 C10.228.140.602/C563051|C10.597.606.881/C563051|C16.131.260/C563051|C16.320.180/C563051|C23.550.210/C563051|C23.550.291.812/C563051|C23.888.338/C563051|C23.888.592.604.882/C563051 C10.228.140.602|C10.597.606.881|C16.131.260|C16.320.180|C23.550.210|C23.550.291.812|C23.888.338|C23.888.592.604.882 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Signs and symptoms EDS VIIB MESH:C565061 MESH:D004535 C14.907.454.240/C565061|C15.378.463.515.240/C565061|C16.131.831.428/C565061|C16.320.850.260/C565061|C17.300.200.310/C565061|C17.800.804.428/C565061|C17.800.827.260/C565061 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 EDS7B Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease EFAVIRENZ, POOR METABOLISM OF OMIM:614546 MESH:D008661 C16.320.565/614546|C18.452.648/614546 C16.320.565|C18.452.648 EFAVIRENZ CENTRAL NERVOUS SYSTEM TOXICITY, SUSCEPTIBILITY TO, INCLUDED Genetic disease (inborn)|Metabolic disease Egg and banana sign MESH:C000721407 MESH:D006976 C08.381.423/C000721407|C14.907.489.556/C000721407 C08.381.423|C14.907.489.556 Egg-and-banana sign Cardiovascular disease|Respiratory tract disease Egg Hypersensitivity MESH:D021181 DO:DOID:4377 Allergic reaction to eggs that is triggered by the immune system. MESH:D005512 C20.543.480.370.150 C20.543.480.370 Allergies, Egg|Allergy, Egg|Egg Allergies|Egg Allergy|Egg Hypersensitivities|Hypersensitivities, Egg|Hypersensitivity, Egg Immune system disease Ehlers-Danlos Syndrome MESH:D004535 DO:DOID:13359|OMIM:130050 A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability. MESH:D003095|MESH:D012868|MESH:D012873|MESH:D020141 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 C14.907.454|C15.378.463.515|C16.131.831|C16.320.850|C17.300.200|C17.800.804|C17.800.827 Cutis Elastica|Danlos Disease, Ehlers|Disease, Ehlers Danlos|Disease, Ehlers-Danlos|EDS4|EDS IV|EDSVASC|Ehlers Danlos Disease|Ehlers-Danlos Disease|Ehlers Danlos Syndrome|EHLERS-DANLOS SYNDROME, ARTERIAL TYPE|EHLERS-DANLOS SYNDROME, ECCHYMOTIC TYPE|EHLERS-DANLOS SYNDROME, SACK-BARABAS TYPE|EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT|EHLERS-DANLOS SYNDROME, VASCULAR TYPE|Syndrome, Ehlers-Danlos Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified MESH:C562424 MESH:D004535 C14.907.454.240/C562424|C15.378.463.515.240/C562424|C16.131.831.428/C562424|C16.320.850.260/C562424|C17.300.200.310/C562424|C17.800.804.428/C562424|C17.800.827.260/C562424 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 Ehlers-Danlos Syndrome, Friedman-Harrod Type Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos syndrome, Beasley Cohen type MESH:C536199 MESH:D004535 C14.907.454.240/C536199|C15.378.463.515.240/C536199|C16.131.831.428/C536199|C16.320.850.260/C536199|C17.300.200.310/C536199|C17.800.804.428/C536199|C17.800.827.260/C536199 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 Ehlers-Danlos Syndrome, Beasley-Cohen Type|Ehlers-Danlos syndrome with mental retardation, deafness, and cataract Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos syndrome, cardiac valvular form MESH:C536200 OMIM:225320 MESH:D004535 C14.907.454.240/C536200|C15.378.463.515.240/C536200|C16.131.831.428/C536200|C16.320.850.260/C536200|C17.300.200.310/C536200|C17.800.804.428/C536200|C17.800.827.260/C536200 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome|Cardiac valvular form of Ehlers-Danlos syndrome|EDSCV|Ehlers-Danlos Syndrome, Arthrochalasis Type|Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form|EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos syndrome caused by tenascin-X deficiency MESH:C536193 OMIM:606408 MESH:D004535 C14.907.454.240/C536193|C15.378.463.515.240/C536193|C16.131.831.428/C536193|C16.320.850.260/C536193|C17.300.200.310/C536193|C17.800.804.428/C536193|C17.800.827.260/C536193 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 EDSCLL|EDS DUE TO TNX DEFICIENCY|Ehlers-Danlos-like syndrome due to tenascin-X deficiency|EHLERS-DANLOS SYNDROME, CLASSIC-LIKE|EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY|TNX DEFICIENCY Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 OMIM:614557 MESH:C565711|MESH:D004535|MESH:D009135|MESH:D034381 C05.116.900.800.500/C565711/614557|C05.116.900.800.875/C565711/614557|C05.651/614557|C09.218.458.341/614557|C10.597.751.418.341/614557|C10.668.491/614557|C14.907.454.240/614557|C15.378.463.515.240/614557|C16.131.831.428/614557|C16.320.850.260/614557|C17.300.200.310/614557|C17.800.804.428/614557|C17.800.827.260/614557|C23.888.592.763.393.341/614557 C05.116.900.800.500/C565711|C05.116.900.800.875/C565711|C05.651|C09.218.458.341|C10.597.751.418.341|C10.668.491|C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260|C23.888.592.763.393.341 EDSKMH|EDSKSCL2|EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Ear-nose-throat disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Ehlers-Danlos Syndrome, musculocontractural type 1 MESH:C000600608 OMIM:601776 MESH:D004535 C14.907.454.240/C000600608|C15.378.463.515.240/C000600608|C16.131.831.428/C000600608|C16.320.850.260/C000600608|C17.300.200.310/C000600608|C17.800.804.428/C000600608|C17.800.827.260/C000600608 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME|Adducted Thumb-Clubfoot Syndrome|Adducted thumbs Dundar type|Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis|ATCS|DUNDAR SYNDROME|EDS6B, FORMERLY|EDSMC|EDSMC1|EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1|EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 OMIM:615539 DO:DOID:0080735|DO:DOID:0080737 MESH:D004535 C14.907.454.240/615539|C15.378.463.515.240/615539|C16.131.831.428/615539|C16.320.850.260/615539|C17.300.200.310/615539|C17.800.804.428/615539|C17.800.827.260/615539 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 EDSMC2 Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 OMIM:617174 DO:DOID:0080987 MESH:D004535|MESH:D010518 C07.465.714.533/617174|C14.907.454.240/617174|C15.378.463.515.240/617174|C16.131.831.428/617174|C16.320.850.260/617174|C17.300.200.310/617174|C17.800.804.428/617174|C17.800.827.260/617174 C07.465.714.533|C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 EDSPD2 Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Mouth disease|Skin disease Ehlers-Danlos syndrome, progeroid form MESH:C536201 OMIM:130070|OMIM:615349 MESH:D004535 C14.907.454.240/C536201|C15.378.463.515.240/C536201|C16.131.831.428/C536201|C16.320.850.260/C536201|C17.300.200.310/C536201|C17.800.804.428/C536201|C17.800.827.260/C536201 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 DERMATAN SULFATE PROTEOGLYCAN|EDSP1, FORMERLY|EDSP2, FORMERLY|EDSSLA|EDSSPD1|EDSSPD2|EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, FORMERLY|EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, FORMERLY|EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1|EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2|EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES|Galactosyltransferase 1 deficiency|Galactosyltransferase I Deficiency|PDS, DEFECTIVE BIOSYNTHESIS OF|Progeroid variant of Ehlers-Danlos syndrome|Proteodermatan sulfate, defective biosynthesis of|XGPT DEFICIENCY|Xylosylprotein 4-beta-galactosyltransferase deficiency Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos syndrome type 1 MESH:C536194 DO:DOID:14720|OMIM:130000 MESH:D004535 C14.907.454.240/C536194|C15.378.463.515.240/C536194|C16.131.831.428/C536194|C16.320.850.260/C536194|C17.300.200.310/C536194|C17.800.804.428/C536194|C17.800.827.260/C536194 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 EDS1, FORMERLY|EDSCL1|EDS I, FORMERLY|Ehlers-Danlos syndrome, classic severe form|EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1|Ehlers-Danlos syndrome, Gravis type|EHLERS-DANLOS SYNDROME, GRAVIS TYPE, FORMERLY|Ehlers-Danlos Syndrome, Severe Classic Type|EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE, FORMERLY|Ehlers-Danlos Syndrome, Type I|EHLERS-DANLOS SYNDROME, TYPE I, FORMERLY Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos syndrome type 2 MESH:C536195 MESH:D004535 C14.907.454.240/C536195|C15.378.463.515.240/C536195|C16.131.831.428/C536195|C16.320.850.260/C536195|C17.300.200.310/C536195|C17.800.804.428/C536195|C17.800.827.260/C536195 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 Ehlers-Danlos syndrome, mild classic type|Ehlers Danlos Syndrome, Mild Classic Type|Ehlers-Danlos syndrome, MITIS type|Ehlers Danlos Syndrome, MITIS Type|Ehlers-Danlos Syndrome, Type II Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos syndrome type 3 MESH:C536196 DO:DOID:14757|OMIM:130020 MESH:D004535 C14.907.454.240/C536196|C15.378.463.515.240/C536196|C16.131.831.428/C536196|C16.320.850.260/C536196|C17.300.200.310/C536196|C17.800.804.428/C536196|C17.800.827.260/C536196 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 Benign hypermobility syndrome|EDS3|EDSHMB|EDS III|Ehlers-Danlos Syndrome, Hypermobility Type|Ehlers-Danlos Syndrome, Type III Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos syndrome type 5 MESH:C536197 DO:DOID:0111765 MESH:D004535|MESH:D040181 C14.907.454.240/C536197|C15.378.463.515.240/C536197|C16.131.831.428/C536197|C16.320.322/C536197|C16.320.850.260/C536197|C17.300.200.310/C536197|C17.800.804.428/C536197|C17.800.827.260/C536197 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.322|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 Ehlers-Danlos Syndrome, Type V Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos syndrome type 6 MESH:C536198 DO:DOID:14775|OMIM:225400 MESH:D004535 C14.907.454.240/C536198|C15.378.463.515.240/C536198|C16.131.831.428/C536198|C16.320.850.260/C536198|C17.300.200.310/C536198|C17.800.804.428/C536198|C17.800.827.260/C536198 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 EDS6|EDS6A, FORMERLY|EDSKSCL1|EDS VI|Ehlers-Danlos syndrome, kyphoscoliotic type|EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1|EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE|Ehlers-Danlos syndrome, oculoscoliotic type|Ehlers-Danlos syndrome, type 6|Ehlers-Danlos syndrome, type 6 A|Ehlers-Danlos Syndrome, Type VI|Ehlers-Danlos Syndrome, Type VIA|EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY|NEVO SYNDROME Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos Syndrome, Type IV MESH:D000094623 A subtype of Ehlers-Danlos syndrome (EDS) characterized by vascular pathologies, e.g., AORTIC DISSECTION in addition to common EDS findings, e.g., hyperextensible skin and joints, skin fragility and reduced wound healing capability. It is associated with mutations in collagen type III alpha 1 chain gene (COLLAGEN TYPE III). MESH:D000784|MESH:D004535 C14.907.055.448.250.256|C14.907.454.240.500|C15.378.463.515.240.500|C16.131.831.428.500|C16.320.850.260.500|C17.300.200.310.500|C17.800.804.428.500|C17.800.827.260.500 C14.907.055.448.250|C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 EDS IV|Ehlers Danlos Syndrome, Arterial Type|Ehlers-Danlos Syndrome, Arterial Type|Ehlers Danlos Syndrome, Ecchymotic Type|Ehlers-Danlos Syndrome, Ecchymotic Type|Ehlers Danlos Syndrome, Sack Barabas Type|Ehlers Danlos Syndrome, Sack-Barabas Type|Ehlers-Danlos Syndrome, Sack-Barabas Type|Ehlers-Danlos Syndromes, Vascular|Ehlers Danlos Syndrome Type 4, Autosomal Dominant|Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant|Ehlers-Danlos Syndrome, Vascular|Ehlers-Danlos Syndrome, Vascular Type|Syndromes, Vascular Ehlers-Danlos|Syndrome, Vascular Ehlers-Danlos|Type IV Ehlers Danlos Syndrome|Type IV Ehlers-Danlos Syndrome|Vascular Ehlers Danlos Syndrome|Vascular Ehlers-Danlos Syndrome|Vascular Ehlers-Danlos Syndromes|Vascular Type Ehlers-Danlos Syndrome Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant MESH:C562625 OMIM:130060 MESH:D004535 C14.907.454.240/C562625|C15.378.463.515.240/C562625|C16.131.831.428/C562625|C16.320.850.260/C562625|C17.300.200.310/C562625|C17.800.804.428/C562625|C17.800.827.260/C562625 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 Arthrochalasis Multiplex Congenita|EDS7A|EDSARTH1|EDS VIIA|EDS VII, Mutant Procollagen Type|Ehlers-Danlos Syndrome, Arthrochalasia Type|EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1|EHLERS-DANLOS SYNDROME, TYPE VIIA, AUTOSOMAL DOMINANT Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive MESH:C567527 OMIM:225410 MESH:D004535 C14.907.454.240/C567527|C15.378.463.515.240/C567527|C16.131.831.428/C567527|C16.320.850.260/C567527|C17.300.200.310/C567527|C17.800.804.428/C567527|C17.800.827.260/C567527 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 Dermatosparaxis|EDS7C|EDSDERMS|EDS VIIC|Ehlers-Danlos Syndrome, Dermatosparaxis Type|EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos Syndrome, Type VIII MESH:C562626 OMIM:130080 MESH:D004535 C14.907.454.240/C562626|C15.378.463.515.240/C562626|C16.131.831.428/C562626|C16.320.850.260/C562626|C17.300.200.310/C562626|C17.800.804.428/C562626|C17.800.827.260/C562626 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 EDS8|EDSPD1|EDS VIII|EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1|Ehlers-Danlos Syndrome, Periodontitis Type|Ehlers-Danlos Syndrome, Periodontosis Type|EHLERS-DANLOS SYNDROME, TYPE VIII Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly MESH:C565563 MESH:D004535|MESH:D058627 C05.660.207.536/C565563|C10.500.507.400.249/C565563|C14.907.454.240/C565563|C15.378.463.515.240/C565563|C16.131.621.207.532/C565563|C16.131.666.507.400.249/C565563|C16.131.831.428/C565563|C16.320.850.260/C565563|C17.300.200.310/C565563|C17.800.804.428/C565563|C17.800.827.260/C565563 C05.660.207.536|C10.500.507.400.249|C14.907.454.240|C15.378.463.515.240|C16.131.621.207.532|C16.131.666.507.400.249|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Skin disease Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality MESH:C565600 MESH:D001791|MESH:D004535 C14.907.454.240/C565600|C15.378.140/C565600|C15.378.463.515.240/C565600|C16.131.831.428/C565600|C16.320.850.260/C565600|C17.300.200.310/C565600|C17.800.804.428/C565600|C17.800.827.260/C565600 C14.907.454.240|C15.378.140|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 Ehlers-Danlos Syndrome, Dysfibronectinemic Type|Ehlers-Danlos Syndrome, Type X Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Ehrlichiosis MESH:D016873 DO:DOID:10242 A tick-borne disease characterized by FEVER; HEADACHE; myalgias; ANOREXIA; and occasionally RASH. It is caused by several bacterial species and can produce disease in DOGS; CATTLE; SHEEP; GOATS; HORSES; and humans. The primary species causing human disease are EHRLICHIA CHAFFEENSIS; ANAPLASMA PHAGOCYTOPHILUM; and Ehrlichia ewingii. MESH:D000711|MESH:D017282 C01.150.252.400.054.750|C01.920.930.300 C01.150.252.400.054|C01.920.930 E chaffeensis Infection|E. chaffeensis Infection|E chaffeensis Infections|E ewingii Infection|E. ewingii Infection|E ewingii Infections|E. ewingii Infections|Ehrlichia chaffeensis Infection|Ehrlichia chaffeensis Infections|Ehrlichia ewingii Infection|Ehrlichia ewingii Infections|Ehrlichia Infection|Ehrlichia Infections|Ehrlichioses|Human Ehrlichioses|Human Ehrlichiosis|Infection, E chaffeensis|Infection, E. chaffeensis|Infections, E chaffeensis Bacterial infection or mycosis Eiken Skeletal Dysplasia MESH:C564010 DO:DOID:0111732|OMIM:600002 MESH:D005532|MESH:D006228|MESH:D010009 C05.116.099.708/C564010|C05.330.495/C564010|C05.390.408/C564010|C05.660.585.512.380/C564010|C05.660.585.988.425/C564010|C16.131.621.585.512.500/C564010|C16.131.621.585.988.500/C564010|C16.320.728/C564010 C05.116.099.708|C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.320.728 Bone Modeling Defect of Hands and Feet|EIKEN SKELETAL DYSPLASIA|EIKEN SYNDROME|EKNS Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Eisenmenger Complex MESH:D004541 A condition associated with VENTRICULAR SEPTAL DEFECT and other congenital heart defects that allow the mixing of pulmonary and systemic circulation, increase blood flow into the lung, and subsequent responses to low oxygen in blood. This complex is characterized by progressive PULMONARY HYPERTENSION; HYPERTROPHY of the RIGHT VENTRICLE; CYANOSIS; and ERYTHROCYTOSIS. MESH:D006330 C14.240.400.450|C14.280.400.450|C16.131.240.400.450 C14.240.400|C14.280.400|C16.131.240.400 Complex, Eisenmenger|Complex, Eisenmenger's|Eisenmenger's Complex|Eisenmengers Complex|Eisenmenger's Syndrome|Eisenmengers Syndrome|Eisenmenger Syndrome|Syndrome, Eisenmenger|Syndrome, Eisenmenger's Cardiovascular disease|Congenital abnormality Elastosis perforans serpiginosa MESH:C536202 MESH:D012871 C17.800/C536202 C17.800 Elastoma intrapapillare perforans verruciformis|Miescher elastoma Skin disease Elbow Fractures MESH:D000092482 Fractures of the distal HUMERUS and the proximal ULNA and the RADIUS at the ELBOW JOINT, including the head, anatomic and surgical necks, and tuberosities. MESH:D000092464|MESH:D050723 C26.088.134.500|C26.404.020 C26.088.134|C26.404 Elbow Fracture|Fracture, Elbow|Fracture, Proximal Radial|Fracture, Proximal Radius|Fracture, Proximal Ulna|Proximal Radial Fracture|Proximal Radial Fractures|Proximal Radius Fracture|Proximal Radius Fractures|Proximal Ulna Fracture|Proximal Ulna Fractures|Radial Fracture, Proximal|Radius Fracture, Proximal|Ulna Fracture, Proximal Wounds and injuries Elbow Injuries MESH:D000092464 Injuries involving the ELBOW and ELBOW JOINT. MESH:D001134 C26.088.134 C26.088 Elbow Injury|Elbow Joint Injuries|Elbow Joint Injury|Injury, Elbow|Injury, Elbow Joint|Joint Injury, Elbow Wounds and injuries Elbow Tendinopathy MESH:D000070639 Inflammation (tendinitis) or degeneration (tendinosis) of the tendons of the elbow. MESH:D000092464|MESH:D052256 C05.651.869.435|C26.088.134.625|C26.874.800.500 C05.651.869|C26.088.134|C26.874.800 Elbow Tendinopathies|Epicondylitis, Medial|Golfer's Elbow|Golfers Elbow|Medial Epicondylitides|Medial Epicondylitis|Tendinopathies, Elbow|Tendinopathy, Elbow Musculoskeletal disease|Wounds and injuries Electric Injuries MESH:D004556 Injuries caused by electric currents. The concept excludes electric burns (BURNS, ELECTRIC), but includes accidental electrocution and electric shock. MESH:D014947 C26.324 C26 Accidental Electrocution|Accidental Electrocutions|Electric Injury|Electrocution, Accidental|Electrocutions, Accidental|Injuries, Electric|Injury, Electric Wounds and injuries Elejalde Disease MESH:C536203 MESH:D010859|MESH:D020752 C10.562/C536203|C16.131.077.350.712/C536203|C16.131.831.350.712/C536203|C16.320.850.250.712/C536203|C17.800.621/C536203|C17.800.804.350.712/C536203|C17.800.827.250.712/C536203|C23.550.755/C536203 C10.562|C16.131.077.350.712|C16.131.831.350.712|C16.320.850.250.712|C17.800.621|C17.800.804.350.712|C17.800.827.250.712|C23.550.755 Melanolysosomal neurocutaneous syndrome|Neuroectodermal melanolysosomal disease|Neuro-ectodermal melanolysosomal syndrome Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Skin disease Elephantiasis MESH:D004604 DO:DOID:0050138|DO:DOID:4976 Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL. MESH:D008209 C15.604.496.320 C15.604.496 Bigfoot Disease|Bigfoot Diseases|Disease, Bigfoot|Disease, Microcrystal|Diseases, Bigfoot|Diseases, Microcrystal|Elephantiases|Elephantiases, Endemic|Elephantiases, Endemic Non-Filarial|Elephantiasis, Endemic|Elephantiasis, Endemic Non-Filarial|Elephantiasis Nostras Verrucosa|Elephantiasis Nostras Verrucosas|Endemic Elephantiases|Endemic Elephantiasis|Endemic Non-Filarial Elephantiases|Endemic Non Filarial Elephantiasis|Endemic Non-Filarial Elephantiasis|foot, Mossy|foots, Mossy|Lymphostatic Verrucoses|Lymphostatic Verrucosis|Microcrystal Disease|Microcrystal Diseases|Mossy foot|Mossy foots|Non-Filarial Elephantiases, Endemic|Non-Filarial Elephantiasis, Endemic|Nostras Verrucosa, Elephantiasis|Nostras Verrucosas, Elephantiasis|Podoconioses|Podoconiosis|Verrucosa, Elephantiasis Nostras|Verrucosas, Elephantiasis Nostras|Verrucoses, Lymphostatic|Verrucosis, Lymphostatic Lymphatic disease Elephantiasis, Filarial MESH:D004605 DO:DOID:12211 Parasitic infestation of the human lymphatic system by WUCHERERIA BANCROFTI or BRUGIA MALAYI. It is also called lymphatic filariasis. MESH:D000079426|MESH:D005368|MESH:D008209 C01.610.335.508.700.750.361.350|C01.920.750|C15.604.496.490 C01.610.335.508.700.750.361|C01.920|C15.604.496 Bancroftian Elephantiases|Bancroftian Elephantiasis|Bancroftian Filariases|Bancroftian Filariasis|Elephantiases, Bancroftian|Elephantiases, Filarial|Elephantiases, Malayi|Elephantiasis, Bancroftian|Elephantiasis, Malayi|Filarial Elephantiases|Filarial Elephantiasis|Filariases, Bancroftian|Filariases, Lymphatic|Filariases, Malayi|Filariasis, Bancroftian|Filariasis, Lymphatic|Filariasis, Malayi|Lymphatic Filariases|Lymphatic Filariasis|Malayi Elephantiases|Malayi Elephantiasis|Malayi Filariases|Malayi Filariasis Lymphatic disease|Parasitic disease Elimination Disorders MESH:D019960 Excretory-related psychiatric disorders usually diagnosed in infancy or childhood. MESH:D001523 F03.388 F03 Disorder, Elimination|Disorders, Elimination|Elimination Disorder Mental disorder Elliott Ludman Teebi syndrome MESH:C536204 MESH:D000015|MESH:D008607|MESH:D012871 C10.597.606.360/C536204|C16.131.077/C536204|C17.800/C536204|C23.888.592.604.646/C536204|F03.625.539/C536204 C10.597.606.360|C16.131.077|C17.800|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Elliptocytosis 1 MESH:C567520 OMIM:611804 MESH:D004612 C15.378.071.141.150.365/C567520|C16.320.070.365/C567520 C15.378.071.141.150.365|C16.320.070.365 4.1-Minus Trait|4.1- TRAIT|EL1|Elliptocytosis, Rhesus-Linked Type|Protein 4.1 of Erythrocyte Membrane, Defect of Blood disease|Genetic disease (inborn) Elliptocytosis 2 MESH:C565058 OMIM:130600 MESH:D004612 C15.378.071.141.150.365/C565058|C16.320.070.365/C565058 C15.378.071.141.150.365|C16.320.070.365 EL2|Elliptocytosis, Rhesus-Unlinked Type Blood disease|Genetic disease (inborn) Elliptocytosis 3 MESH:C566678 MESH:D004612 C15.378.071.141.150.365/C566678|C16.320.070.365/C566678 C15.378.071.141.150.365|C16.320.070.365 Blood disease|Genetic disease (inborn) Elliptocytosis 4 MESH:C566231 OMIM:166900 MESH:D004612 C15.378.071.141.150.365/C566231|C16.320.070.365/C566231 C15.378.071.141.150.365|C16.320.070.365 EL4|ELLIPTOCYTOSIS 4|ELLIPTOCYTOSIS, STOMATOCYTIC HEREDITARY|HE, STOMATOCYTIC|Ovalocytosis, Malaysian-Melanesian-Filipino Type|OVALOCYTOSIS, SOUTHEAST ASIAN|SAO Blood disease|Genetic disease (inborn) Elliptocytosis, Atypical MESH:C565598 MESH:D004612 C15.378.071.141.150.365/C565598|C16.320.070.365/C565598 C15.378.071.141.150.365|C16.320.070.365 Blood disease|Genetic disease (inborn) Elliptocytosis, Hereditary MESH:D004612 DO:DOID:2373 An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. MESH:D000745 C15.378.071.141.150.365|C16.320.070.365 C15.378.071.141.150|C16.320.070 Elliptocytoses, Hereditary|Hereditary Elliptocytoses|Hereditary Elliptocytosis|Hereditary Ovalocytoses|Hereditary Ovalocytosis|Ovalocytoses, Hereditary|Ovalocytosis, Hereditary Blood disease|Genetic disease (inborn) Ellis-Van Creveld Syndrome MESH:D004613 DO:DOID:12714|OMIM:225500 Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed) MESH:D004476|MESH:D010009 C05.116.099.708.327|C16.131.077.350.398|C16.131.831.350.398|C16.320.850.250.398|C17.800.804.350.398|C17.800.827.250.398 C05.116.099.708|C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Chondroectodermal Dysplasia|Chondroectodermal Dysplasias|Dysplasia, Chondroectodermal|Dysplasia, Ellis-Van Creveld|Dysplasia, Mesoectodermal|Ellis Van Creveld Dysplasia|Ellis-Van Creveld Dysplasia|Ellis Van Creveld Syndrome|EVC|Mesoectodermal Dysplasia|Mesoectodermal Dysplasias|Syndrome, Ellis-Van Creveld Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Ellis Yale Winter syndrome MESH:C536205 MESH:D000015|MESH:D006330|MESH:D008831 C05.660.207.620/C536205|C10.500.507.400.500/C536205|C14.240.400/C536205|C14.280.400/C536205|C16.131.077/C536205|C16.131.240.400/C536205|C16.131.621.207.620/C536205|C16.131.666.507.400.500/C536205 C05.660.207.620|C10.500.507.400.500|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.207.620|C16.131.666.507.400.500 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease Emaciation MESH:D004614 Clinical manifestation of excessive LEANNESS usually caused by disease or a lack of nutrition (MALNUTRITION). MESH:D013851 C23.888.144.828.500 C23.888.144.828 Emaciations Signs and symptoms Emanuel syndrome MESH:C535733 OMIM:609029 MESH:D002972|MESH:D006330|MESH:D008607|MESH:D009123|MESH:D025063 C05.500.460.185/C535733|C05.660.207.540.460.185/C535733|C07.320.440.185/C535733|C07.465.525.185/C535733|C07.650.500.460.185/C535733|C07.650.525.185/C535733|C10.597.606.360/C535733|C10.597.613.575/C535733|C14.240.400/C535733|C14.280.400/C535733|C16.131.240.400/C535733|C16.131.260/C535733|C16.131.621.207.540.460.185/C535733|C16.131.850.500.460.185/C535733|C16.131.850.525.185/C535733|C16.320.180/C535733|C23.888.592.604.646/C535733|C23.888.592.608.575/C535733|F03.625.539/C535733 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.597.606.360|C10.597.613.575|C14.240.400|C14.280.400|C16.131.240.400|C16.131.260|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.180|C23.888.592.604.646|C23.888.592.608.575|F03.625.539 22) SYNDROME|Der(22) Syndrome Due To 3:1 Meiotic Disjunction Events|Supernumary Der(22) Syndrome|Supernumary Der(22)T(11;22) Syndrome|Supernumary Derivative 22 Chromosome Syndrome|Supernumerary der(22) syndrome|SUPERNUMERARY DER(22)t(11|Supernumerary der(22)t(11;22) syndrome Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Embolic Stroke MESH:D000083262 An ischemic stroke due to a blood clot, emboli or other types of blockage which forms somewhere other than the brain and subsequently travels near and restricts blood flow to the brain. Most often the origin of the clot is from the heart and is referred to as cardioembolic stroke. MESH:D000083242 C10.228.140.300.775.400.375|C14.907.253.855.400.375 C10.228.140.300.775.400|C14.907.253.855.400 Cardio embolic Stroke|Cardio-embolic Stroke|Cardioembolic Stroke|Cardio-embolic Strokes|Cardioembolic Strokes|Embolic Strokes|Stroke, Cardio-embolic|Stroke, Cardioembolic|Stroke, Embolic|Strokes, Cardio-embolic|Strokes, Cardioembolic|Strokes, Embolic Cardiovascular disease|Nervous system disease Embolism MESH:D004617 Blocking of a blood vessel by an embolus which can be a blood clot or other undissolved material in the blood stream. MESH:D016769 C14.907.355.350 C14.907.355 Embolisms|Embolus Cardiovascular disease Embolism, Air MESH:D004618 Blocking of a blood vessel by air bubbles that enter the circulatory system, usually after TRAUMA; surgical procedures, or changes in atmospheric pressure. MESH:D004617 C14.907.355.350.254 C14.907.355.350 Air Embolism|Air Embolisms|Embolism, Gas|Embolisms, Air|Embolisms, Gas|Gas Embolism|Gas Embolisms Cardiovascular disease Embolism, Amniotic Fluid MESH:D004619 Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH. MESH:D004617|MESH:D011249 C12.050.703.634.404|C14.583.404|C14.907.355.350.354 C12.050.703.634|C14.583|C14.907.355.350 Amniotic Fluid Embolism|Amniotic Fluid Embolisms|Embolisms, Amniotic Fluid Cardiovascular disease|Pregnancy complication Embolism and Thrombosis MESH:D016769 A collective term for pathological conditions which are caused by the formation of a blood clot (THROMBUS) in a blood vessel, or by blocking of a blood vessel with an EMBOLUS, undissolved materials in the blood stream. MESH:D014652 C14.907.355 C14.907 Thrombosis and Embolism Cardiovascular disease Embolism, Cholesterol MESH:D017700 DO:DOID:1461 Blocking of a blood vessel by CHOLESTEROL-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. MESH:D004620 C14.907.355.350.454.500 C14.907.355.350.454 Atheroembolism|Atheroembolisms|Cholesterol Embolism|Cholesterol Embolisms|Embolisms, Cholesterol Cardiovascular disease Embolism, Fat MESH:D004620 Blocking of a blood vessel by fat deposits in the circulation. It is often seen after fractures of large bones or after administration of CORTICOSTEROIDS. MESH:D004617 C14.907.355.350.454 C14.907.355.350 Embolisms, Fat|Fat Embolism|Fat Embolisms|Fat Embolism Syndrome Cardiovascular disease Embolism, Paradoxical MESH:D019320 Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE. MESH:D013923 C14.907.355.590.400 C14.907.355.590 Crossed Embolism|Crossed Embolisms|Embolism, Crossed|Embolisms, Crossed|Embolisms, Paradoxical|Paradoxical Embolism|Paradoxical Embolisms Cardiovascular disease Embryo Loss MESH:D020964 Early pregnancy loss during the EMBRYO, MAMMALIAN stage of development. In the human, this period comprises the second through eighth week after fertilization. MESH:D000022|MESH:D003643 C12.050.703.039.711|C23.550.260.440 C12.050.703.039|C23.550.260 Blastocyst Disintegration|Death, Embryo|Disintegration, Blastocyst|Disintegration of Blastocyst|Disintegration of Embryo|Embryo Death|Embryo Deaths|Embryo Disintegration|Embryo Resorption|Resorption, Embryo Pathology (process)|Pregnancy complication Emergence Delirium MESH:D000071257 A form of DELIRIUM which occurs after GENERAL ANESTHESIA. MESH:D003693|MESH:D011183 C10.597.606.337.500.500|C23.550.767.181|C23.888.592.604.339.500.500|F03.615.350.500 C10.597.606.337.500|C23.550.767|C23.888.592.604.339.500|F03.615.350 Agitated Emergence|Agitation, Emergence|Agitations, Emergence|Anesthesia Emergence Delirium|Delirium, Anesthesia Emergence|Delirium, Emergence|Delirium, Postoperative|Delirium, Post-Operative|Emergence, Agitated|Emergence Agitation|Emergence Delirium, Anesthesia|Emergence Excitement|Excitement, Emergence|Excitement, Postanesthetic|Postanesthetic Excitement|Postoperative Delirium|Post Operative Delirium|Post-Operative Delirium Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Emergencies MESH:D004630 Situations or conditions requiring immediate intervention to avoid serious adverse results. MESH:D020969 C23.550.291.781 C23.550.291 Emergency Pathology (process) Emery-Dreifuss Muscular Dystrophy 4 MESH:C567831 MESH:D000083144 C05.651.534.500.350.250/C567831|C10.668.491.175.500.350.250/C567831|C16.320.488.500/C567831|C16.320.577.350.250/C567831 C05.651.534.500.350.250|C10.668.491.175.500.350.250|C16.320.488.500|C16.320.577.350.250 EDMD4|Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Emery-Dreifuss Muscular Dystrophy 5 MESH:C567830 MESH:D000083144 C05.651.534.500.350.250/C567830|C10.668.491.175.500.350.250/C567830|C16.320.488.500/C567830|C16.320.577.350.250/C567830 C05.651.534.500.350.250|C10.668.491.175.500.350.250|C16.320.488.500|C16.320.577.350.250 EDMD5 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Emery-Dreifuss Muscular Dystrophy, Atypical, Autosomal Recessive MESH:C567633 MESH:D000083144 C05.651.534.500.350.250/C567633|C10.668.491.175.500.350.250/C567633|C16.320.488.500/C567633|C16.320.577.350.250/C567633 C05.651.534.500.350.250|C10.668.491.175.500.350.250|C16.320.488.500|C16.320.577.350.250 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease emmonsiosis MESH:C000656884 MESH:D009181 C01.150.703/C000656884 C01.150.703 chrysosporium infection|Emergomyces africanus infection|Emergomycosis|Emmonsia helica infection|Emmonsia pasteurian infection Bacterial infection or mycosis Emphysema MESH:D004646 A pathological accumulation of air in tissues or organs. MESH:D010335 C23.550.325 C23.550 Pathology (process) Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation MESH:C566519 MESH:D003638|MESH:D004646|MESH:D008607 C09.218.458.341.186/C566519|C10.597.606.360/C566519|C10.597.751.418.341.186/C566519|C23.550.325/C566519|C23.888.592.604.646/C566519|C23.888.592.763.393.341.186/C566519|F03.625.539/C566519 C09.218.458.341.186|C10.597.606.360|C10.597.751.418.341.186|C23.550.325|C23.888.592.604.646|C23.888.592.763.393.341.186|F03.625.539 Ear-nose-throat disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Emphysema, Hereditary Pulmonary MESH:C565057 OMIM:130700 MESH:D011656 C08.381.495.389.750/C565057|C23.550.291.500.875.875/C565057 C08.381.495.389.750|C23.550.291.500.875.875 Pathology (process)|Respiratory tract disease Emphysematous Cholecystitis MESH:D041882 DO:DOID:9765 A variant of acute cholecystitis with inflammation of the GALLBLADDER that is characterized by the pockets of gas in the gallbladder wall. It is due to secondary infection caused by gas-forming organisms, and has a high risk of perforation. MESH:D041881 C06.130.564.263.500.500 C06.130.564.263.500 Cholecystitis, Emphysematous Digestive system disease Empty delta sign MESH:C000721352 MESH:D012851 C10.228.140.300.525.425.500/C000721352|C14.907.253.566.350.500/C000721352|C14.907.355.590.213.350.500/C000721352 C10.228.140.300.525.425.500|C14.907.253.566.350.500|C14.907.355.590.213.350.500 Cardiovascular disease|Nervous system disease Empty Sella Syndrome MESH:D004652 DO:DOID:3642 A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS. MESH:D010900 C10.228.140.617.738.200|C19.700.320 C10.228.140.617.738|C19.700 Empty Sella Syndrome, Primary|Empty Sella Syndromes|Empty Sella Syndrome, Secondary|Empty Sella Turcica|Empty Sella Turcicas|Empty Sella Turcica Syndrome|Primary Empty Sella Syndrome|Secondary Empty Sella Syndrome|Sella Turcica, Empty|Sella Turcicas, Empty Endocrine system disease|Nervous system disease Empyema MESH:D004653 Presence of pus in a hollow organ or body cavity. MESH:D013492 C01.830.305|C23.550.470.756.305 C01.830|C23.550.470.756 Pathology (process) Empyema, Pleural MESH:D016724 DO:DOID:3798 Suppurative inflammation of the pleural space. MESH:D004653|MESH:D010995|MESH:D012141 C01.748.265|C01.830.305.310|C08.528.240|C08.730.265|C23.550.470.756.305.250 C01.748|C01.830.305|C08.528|C08.730|C23.550.470.756.305 Empyemas, Pleural|Empyemas, Thoracic|Empyema, Thoracic|Pleural Empyema|Pleural Empyemas|Pyothorax|Thoracic Empyema|Thoracic Empyemas Pathology (process)|Respiratory tract disease Empyema, Subdural MESH:D013354 DO:DOID:11389 An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID. MESH:D004653|MESH:D020819 C01.207.709.300|C01.830.305.330|C10.228.228.709.300|C23.550.470.756.305.500 C01.207.709|C01.830.305|C10.228.228.709|C23.550.470.756.305 Abscess, Intracranial, Subdural|Subdural Empyema|Subdural Empyemas Nervous system disease|Pathology (process) Empyema, Tuberculous MESH:D004654 DO:DOID:14305 Empyema due to MYCOBACTERIUM TUBERCULOSIS. MESH:D014396|MESH:D016724 C01.748.265.320|C01.748.912.405|C01.830.305.310.320|C08.528.240.320|C08.528.928.405|C08.730.265.320|C08.730.912.405|C23.550.470.756.305.250.320 C01.748.265|C01.748.912|C01.830.305.310|C08.528.240|C08.528.928|C08.730.265|C08.730.912|C23.550.470.756.305.250 Empyema, Pleural, Tuberculous|Empyemas, Tuberculous|Tuberculous Empyema|Tuberculous Empyemas Pathology (process)|Respiratory tract disease Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis MESH:C563430 MESH:D002386|MESH:D003744|MESH:D006849 C07.650.800.295.625/C563430|C07.793.700.295.625/C563430|C10.228.140.602/C563430|C11.510.245/C563430|C16.131.850.800.295.625/C563430 C07.650.800.295.625|C07.793.700.295.625|C10.228.140.602|C11.510.245|C16.131.850.800.295.625 Congenital abnormality|Eye disease|Mouth disease|Nervous system disease enamel opacities MESH:C000721947 MESH:D000094603 C07.650.800.295.500/C000721947|C07.793.700.295.500/C000721947|C16.131.850.800.295.500/C000721947 C07.650.800.295.500|C07.793.700.295.500|C16.131.850.800.295.500 dental enamel opacities|dental enamel opacity|enamel opacity Congenital abnormality|Mouth disease enamel pearl MESH:C000723629 MESH:D000094602 C07.650.800.295/C000723629|C07.793.700.295/C000723629|C16.131.850.800.295/C000723629 C07.650.800.295|C07.793.700.295|C16.131.850.800.295 enamel pearls Congenital abnormality|Mouth disease Encephalitis MESH:D004660 DO:DOID:9588 Inflammation of the BRAIN due to infection, autoimmune processes, toxins, and other conditions. Viral infections (see ENCEPHALITIS, VIRAL) are a relatively frequent cause of this condition. MESH:D000090862|MESH:D001927 C10.228.140.430|C10.586.250 C10.228.140|C10.586 Brain Inflammation|Brain Inflammations|Encephalitis, Rasmussen|Inflammation, Brain|Rasmussen Encephalitis|Rasmussen's Syndrome|Rasmussen Syndrome Nervous system disease Encephalitis, Arbovirus MESH:D004671 DO:DOID:646 Infections of the brain caused by arthropod-borne viruses (i.e., arboviruses) primarily from the families TOGAVIRIDAE; FLAVIVIRIDAE; BUNYAVIRIDAE; REOVIRIDAE; and RHABDOVIRIDAE. Life cycles of these viruses are characterized by ZOONOSES, with birds and lower mammals serving as intermediate hosts. The virus is transmitted to humans by the bite of mosquitoes (CULICIDAE) or TICKS. Clinical manifestations include fever, headache, alterations of mentation, focal neurologic deficits, and COMA. (From Clin Microbiol Rev 1994 Jan;7(1):89-116; Walton, Brain's Diseases of the Nervous System, 10th ed, p321) MESH:D001102|MESH:D012327|MESH:D018792 C01.207.245.340.300|C01.207.399.750.300|C01.920.500.343|C01.925.081.343|C01.925.182.525.300|C01.925.782.310|C10.228.140.430.520.750.300|C10.228.228.245.340.300|C10.228.228.399.750.300|C10.586.250.520.750.300 C01.207.245.340|C01.207.399.750|C01.920.500|C01.925.081|C01.925.182.525|C01.925.782|C10.228.140.430.520.750|C10.228.228.245.340|C10.228.228.399.750|C10.586.250.520.750 Arboviral Encephalitides|Arboviral Encephalitis|Arbovirus Encephalitides|Arbovirus Encephalitis|Arthropod-Borne Encephalitides|Arthropod Borne Encephalitis|Arthropod-Borne Encephalitis|Arthropod-Borne Viral Encephalitides|Arthropod Borne Viral Encephalitis|Arthropod-Borne Viral Encephalitis|Encephalitides, Arboviral|Encephalitides, Arbovirus|Encephalitides, Arthropod-Borne|Encephalitides, Arthropod-Borne Viral|Encephalitides, Epidemic|Encephalitides, Mosquito-Borne|Encephalitis, Arboviral|Encephalitis, Arthropod Borne|Encephalitis, Arthropod-Borne|Encephalitis, Arthropod-Borne Viral|Encephalitis, Epidemic|Encephalitis, Mosquito Borne|Encephalitis, Mosquito-Borne|Epidemic Encephalitides|Epidemic Encephalitis|Mosquito-Borne Encephalitides|Mosquito Borne Encephalitis|Mosquito-Borne Encephalitis|Viral Encephalitides, Arthropod-Borne|Viral Encephalitis, Arthropod Borne|Viral Encephalitis, Arthropod-Borne Nervous system disease|Viral disease Encephalitis, California MESH:D004670 DO:DOID:0050118 A viral infection of the brain caused by serotypes of California encephalitis virus (ENCEPHALITIS VIRUS, CALIFORNIA) transmitted to humans by the mosquito AEDES triseriatus. The majority of cases are caused by the LA CROSSE VIRUS. This condition is endemic to the midwestern United States and primarily affects children between 5-10 years of age. Clinical manifestations include FEVER; VOMITING; HEADACHE; and abdominal pain followed by SEIZURES, altered mentation, and focal neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13) MESH:D002044|MESH:D004671 C01.207.245.340.300.200|C01.207.399.750.300.200|C01.920.500.343.340|C01.925.081.343.340|C01.925.182.525.300.200|C01.925.782.147.340|C01.925.782.310.340|C10.228.140.430.520.750.300.200|C10.228.228.245.340.300.200|C10.228.228.399.750.300.200|C10.586.250.520.750.300.200 C01.207.245.340.300|C01.207.399.750.300|C01.920.500.343|C01.925.081.343|C01.925.182.525.300|C01.925.782.147|C01.925.782.310|C10.228.140.430.520.750.300|C10.228.228.245.340.300|C10.228.228.399.750.300|C10.586.250.520.750.300 California Encephalitis|California Encephalitis Virus Infection|California Viral Encephalitis|Encephalitis, California Viral|Encephalitis, California, Viral|Encephalitis, La Crosse|La Crosse Encephalitis|La Crosse Encephalitis Virus Infection|Viral Encephalitis, California Nervous system disease|Viral disease Encephalitis, Herpes Simplex MESH:D020803 OMIM:610551|OMIM:613002|OMIM:614849|OMIM:614850|OMIM:616532 An acute (or rarely chronic) inflammatory process of the brain caused by SIMPLEXVIRUS infections which may be fatal. The majority of infections are caused by human herpesvirus 1 (HERPESVIRUS 1, HUMAN) and less often by human herpesvirus 2 (HERPESVIRUS 2, HUMAN). Clinical manifestations include FEVER; HEADACHE; SEIZURES; HALLUCINATIONS; behavioral alterations; APHASIA; hemiparesis; and COMA. Pathologically, the condition is marked by a hemorrhagic necrosis involving the medial and inferior TEMPORAL LOBE and orbital regions of the FRONTAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, pp751-4) MESH:D006566|MESH:D018792 C01.207.245.340.350|C01.207.399.750.350|C01.925.182.525.350|C01.925.256.466.262|C10.228.140.430.520.750.350|C10.228.228.245.340.350|C10.228.228.399.750.350|C10.586.250.520.750.350 C01.207.245.340|C01.207.399.750|C01.925.182.525|C01.925.256.466|C10.228.140.430.520.750|C10.228.228.245.340|C10.228.228.399.750|C10.586.250.520.750 Acute Necrotizing Encephalitis, Herpetic|Encephalitides, Herpes Simplex|Encephalitides, Herpetic|Encephalitis, Herpes|Encephalitis, Herpetic|ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1|ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5|ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6|ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7|Herpes Encephalitis|Herpes Simplex Encephalitides|Herpes Simplex Encephalitis|HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1|HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2, INCLUDED|HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3|HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4|HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 5|Herpes Simplex Meningoencephalitides|Herpes Simplex Meningoencephalitis|Herpetic Acute Necrotizing Encephalitis|Herpetic Encephalitides|Herpetic Encephalitis|Herpetic Meningoencephalitides|Herpetic Meningoencephalitis|IIAE1|IIAE2, INCLUDED|IIAE5|IIAE6|IIAE7|IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS;IMD83 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC),|Meningoencephalitides, Herpes Simplex|Meningoencephalitides, Herpetic|Meningoencephalitis, Herpes Simplex|Meningoencephalitis, Herpes Simplex Virus|Meningoencephalitis, Herpetic|PNEUMONITIS, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, INCLUDED|SUSCEPTIBILITY TO, 2, INCLUDED Nervous system disease|Viral disease Encephalitis, Japanese MESH:D004672 DO:DOID:10844 A mosquito-borne encephalitis caused by the Japanese B encephalitis virus (ENCEPHALITIS VIRUS, JAPANESE) occurring throughout Eastern Asia and Australia. The majority of infections occur in children and are subclinical or have features limited to transient fever and gastrointestinal symptoms. Inflammation of the brain, spinal cord, and meninges may occur and lead to transient or permanent neurologic deficits (including a POLIOMYELITIS-like presentation); SEIZURES; COMA; and death. (From Adams et al., Principles of Neurology, 6th ed, p751; Lancet 1998 Apr 11;351(9109):1094-7) MESH:D004671|MESH:D018177 C01.207.245.340.300.400|C01.207.399.750.300.400|C01.920.500.343.345|C01.925.081.343.345|C01.925.182.525.300.250|C01.925.782.310.345|C01.925.782.350.250.300|C10.228.140.430.520.750.300.400|C10.228.228.245.340.300.400|C10.228.228.399.750.300.400|C10.586.250.520.750.300.400 C01.207.245.340.300|C01.207.399.750.300|C01.920.500.343|C01.925.081.343|C01.925.182.525.300|C01.925.782.310|C01.925.782.350.250|C10.228.140.430.520.750.300|C10.228.228.245.340.300|C10.228.228.399.750.300|C10.586.250.520.750.300 Encephalitis, Japanese B|Japanese B Encephalitis|Japanese B Viral Encephalitis|Japanese Encephalitis|Viral Encephalitis, Japanese B Nervous system disease|Viral disease Encephalitis, St. Louis MESH:D004674 DO:DOID:10845 A viral encephalitis caused by the St. Louis encephalitis virus (ENCEPHALITIS VIRUS, ST. LOUIS), a FLAVIVIRUS. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus CULEX. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an ASEPTIC MENINGITIS or ENCEPHALITIS. Clinical manifestations of the encephalitic presentation may include SEIZURES, lethargy, MYOCLONUS, focal neurologic signs, COMA, and DEATH. (From Adams et al., Principles of Neurology, 6th ed, p750) MESH:D004671|MESH:D018177 C01.207.245.340.300.550|C01.207.399.750.300.550|C01.920.500.343.350|C01.925.081.343.350|C01.925.182.525.300.300|C01.925.782.310.350|C01.925.782.350.250.450|C10.228.140.430.520.750.300.550|C10.228.228.245.340.300.550|C10.228.228.399.750.300.550|C10.586.250.520.750.300.550 C01.207.245.340.300|C01.207.399.750.300|C01.920.500.343|C01.925.081.343|C01.925.182.525.300|C01.925.782.310|C01.925.782.350.250|C10.228.140.430.520.750.300|C10.228.228.245.340.300|C10.228.228.399.750.300|C10.586.250.520.750.300 Encephalitis, Saint Louis|Encephalitis, Viral, St. Louis|Lethargic Encephalitis, Type C|Louis Meningoencephalitides, St.|Meningoencephalitides, St. Louis|Meningoencephalitis, St. Louis|Saint Louis Encephalitis|St. Louis Encephalitis|St. Louis Meningoencephalitides|St. Louis Meningoencephalitis|St. Louis Viral Encephalitis|Type C Lethargic Encephalitis Nervous system disease|Viral disease Encephalitis, Tick-Borne MESH:D004675 DO:DOID:0050175 Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5) MESH:D004671|MESH:D017282|MESH:D018177 C01.207.245.340.300.775|C01.207.399.750.300.775|C01.920.500.343.360|C01.920.930.400|C01.925.081.343.360|C01.925.182.525.300.350|C01.925.782.310.360|C01.925.782.350.250.500|C10.228.140.430.520.750.300.775|C10.228.228.245.340.300.775|C10.228.228.399.750.300.775|C10.586.250.520.750.300.775 C01.207.245.340.300|C01.207.399.750.300|C01.920.500.343|C01.920.930|C01.925.081.343|C01.925.182.525.300|C01.925.782.310|C01.925.782.350.250|C10.228.140.430.520.750.300|C10.228.228.245.340.300|C10.228.228.399.750.300|C10.586.250.520.750.300 Central European Encephalitis|Disease, Powassan Virus|Encephalitis, Central European|Encephalitis, European Tick Borne|Encephalitis, European Tick-Borne|Encephalitis, Far Eastern Russian|Encephalitis, Louping Ill|Encephalitis, Powassan|Encephalitis, Russian Spring Summer|Encephalitis, Russian Spring-Summer|Encephalitis, Tick Borne|European Tick Borne Encephalitis|European Tick-Borne Encephalitis|Far Eastern Russian Encephalitis|Louping Ill Encephalitis|Powassan Encephalitides|Powassan Encephalitis|Powassan Virus Disease|Powassan Virus Diseases|Russian Spring Summer Encephalitis|Russian Spring-Summer Encephalitis|Spring-Summer Encephalitis, Russian|Tick Borne Encephalitis|Tick-Borne Encephalitis|Tick-Borne Encephalitis, European|Virus Disease, Powassan|Virus Diseases, Powassan Nervous system disease|Viral disease Encephalitis, Varicella Zoster MESH:D020804 Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38) MESH:D000073618|MESH:D018792 C01.207.245.340.400|C01.207.399.750.400|C01.925.182.525.400|C01.925.256.466.930.500|C10.228.140.430.520.750.400|C10.228.228.245.340.400|C10.228.228.399.750.400|C10.586.250.520.750.400 C01.207.245.340|C01.207.399.750|C01.925.182.525|C01.925.256.466.930|C10.228.140.430.520.750|C10.228.228.245.340|C10.228.228.399.750|C10.586.250.520.750 Encephalitis, Herpes Zoster|Encephalitis, Human Herpesvirus 3|Encephalitis, Varicella|Encephalitis, VZ Virus|Herpes Zoster Encephalitis|Herpes Zoster Meningoencephalitis|Meningoencephalitis, Herpes Zoster|Varicella Encephalitides|Varicella Encephalitis|Varicella Zoster Encephalitis|Virus Encephalitis, VZ|Zoster Encephalitis, Herpes|Zoster Encephalitis, Varicella Nervous system disease|Viral disease Encephalitis, Viral MESH:D018792 Inflammation of brain parenchymal tissue as a result of viral infection. Encephalitis may occur as primary or secondary manifestation of TOGAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; BUNYAVIRIDAE INFECTIONS; PICORNAVIRIDAE INFECTIONS; PARAMYXOVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RETROVIRIDAE INFECTIONS; and ARENAVIRIDAE INFECTIONS. MESH:D000069544|MESH:D020805 C01.207.245.340|C01.207.399.750|C01.925.182.525|C10.228.140.430.520.750|C10.228.228.245.340|C10.228.228.399.750|C10.586.250.520.750 C01.207.245|C01.207.399|C01.925.182|C10.228.140.430.520|C10.228.228.245|C10.228.228.399|C10.586.250.520 Encephalomyelitis, Infectious, Viral|Encephalomyelitis, Viral Infectious|Infectious Encephalomyelitis, Viral|Viral Encephalitis|Viral Infectious Encephalomyelitis Nervous system disease|Viral disease Encephalitozoonosis MESH:D016890 DO:DOID:4270 Infection with FUNGI of the genus ENCEPHALITOZOON. Lesions commonly occur in the BRAIN and KIDNEY tubules. Other sites of infection in MAMMALS are the LIVER; ADRENAL GLANDS; OPTIC NERVES; RETINA; and MYOCARDIUM. MESH:D016881 C01.150.703.617.300 C01.150.703.617 Encephalitozoonoses Bacterial infection or mycosis Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency MESH:C567528 MESH:D017237 C05.651.460.620/C567528|C10.228.140.163.540/C567528|C10.668.491.500.500/C567528|C18.452.132.540/C567528|C18.452.660.560.620/C567528 C05.651.460.620|C10.228.140.163.540|C10.668.491.500.500|C18.452.132.540|C18.452.660.560.620 Metabolic disease|Musculoskeletal disease|Nervous system disease Encephalocele MESH:D004677 Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. MESH:D006547|MESH:D009436 C10.500.680.488|C16.131.666.680.488|C23.300.707.186 C10.500.680|C16.131.666.680|C23.300.707 Acquired Encephalocele|Acquired Encephaloceles|Bifid Cranium|Bifid Craniums|Bifidum, Cranium|Bifidums, Cranium|Cephalocele|Cephaloceles|Cerebellar Hernia|Cerebellar Hernias|Cerebellar Herniation|Cerebellar Herniations|Cerebral Hernia|Cerebral Hernias|Cranial Meningoencephalocele|Cranial Meningoencephaloceles|Craniocele|Cranioceles|Cranium, Bifid|Cranium Bifidum|Cranium Bifidums|Craniums, Bifid|Encephalocele, Acquired|Encephalocele, Frontal|Encephalocele, Occipital|Encephaloceles|Encephaloceles, Acquired|Encephaloceles, Frontal|Encephalocele, Sincipital|Encephaloceles, Occipital|Encephaloceles, Sincipital|Frontal Encephalocele|Frontal Encephaloceles|Hernia, Cerebellar|Hernia, Cerebral|Hernias, Cerebellar|Hernias, Cerebral|Hernias, Tonsillar|Herniation, Cerebellar|Herniations, Cerebellar|Herniations, Tonsillar|Herniation, Tonsillar|Hernia, Tonsillar|Meningoencephalocele, Cranial|Meningoencephaloceles, Cranial|Notoencephalocele|Notoencephaloceles|Occipital Encephalocele|Occipital Encephaloceles|Sincipital Encephalocele|Sincipital Encephaloceles|Tonsillar Hernia|Tonsillar Hernias|Tonsillar Herniation|Tonsillar Herniations Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Encephaloclastic Proliferative Vasculopathy MESH:C565593 DO:DOID:0111666|OMIM:225790 MESH:D006832 C10.500.450/C565593|C16.131.666.450/C565593 C10.500.450|C16.131.666.450 ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY|EPV|FOWLER SYNDROME|Hydranencephaly, Fowler Type|Hydrocephaly-Hydranencephaly due to Cerebral Vasculopathy|HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY|PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME|PVHH Congenital abnormality|Nervous system disease Encephalocraniocutaneous lipomatosis MESH:C535736 OMIM:613001 MESH:D005128|MESH:D008068|MESH:D020752 C10.562/C535736|C11/C535736|C16.131.077.350.712/C535736|C16.131.831.350.712/C535736|C16.320.850.250.712/C535736|C17.800.463/C535736|C17.800.804.350.712/C535736|C17.800.827.250.712/C535736|C18.452.584.718/C535736 C10.562|C11|C16.131.077.350.712|C16.131.831.350.712|C16.320.850.250.712|C17.800.463|C17.800.804.350.712|C17.800.827.250.712|C18.452.584.718 ECCL|Fishman syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Skin disease Encephalomalacia MESH:D004678 DO:DOID:2034 Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75) MESH:D001927 C10.228.140.461 C10.228.140 Cerebromalacia|Cerebromalacias|Encephalomalacia, Multicystic|Encephalomalacias|Encephalomalacias, Multicystic|Multicystic Encephalomalacia|Multicystic Encephalomalacias Nervous system disease Encephalomalacia, Multilocular MESH:C565597 MESH:D004678 C10.228.140.461/C565597 C10.228.140.461 Nervous system disease Encephalomyelitis MESH:D004679 DO:DOID:640 A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature. MESH:D000090862|MESH:D002494 C01.207.291|C10.228.228.291|C10.586.500 C01.207|C10.228.228|C10.586 Encephalomyelitis, Inflammatory|Inflammatory Encephalomyelitis|Myeloencephalitides|Myeloencephalitis Nervous system disease Encephalomyelitis, Acute Disseminated MESH:D004673 DO:DOID:13664|DO:DOID:639 An acute or subacute inflammatory process of the CENTRAL NERVOUS SYSTEM characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include CONFUSION, somnolence, FEVER, nuchal rigidity, and involuntary movements. The illness may progress to COMA and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921) MESH:D000094025|MESH:D020278 C10.114.375.225|C10.228.140.695.562.225|C10.314.350.225|C20.111.258.250.350|C23.550.291.500.829.188 C10.114.375|C10.228.140.695.562|C10.314.350|C20.111.258.250|C23.550.291.500.829 Acute Disseminated Encephalomyelitides|Acute Disseminated Encephalomyelitis|Disseminated Encephalomyelitis, Acute|Encephalitis, Postvaccinal|Encephalitis, Post Vaccinal|Encephalitis, Post-Vaccinal|Encephalitis, Vaccination|Encephalomyelitis, Postexanthem|Encephalomyelitis, Postinfectious|Encephalomyelitis, Post-Vaccinal|Postexanthem Encephalomyelitis|Postinfectious Encephalomyelitis|Post-Vaccinal Encephalitides|Postvaccinal Encephalitis|Post Vaccinal Encephalitis|Post-Vaccinal Encephalitis|Post-Vaccinal Encephalomyelitides|Post Vaccinal Encephalomyelitis|Post-Vaccinal Encephalomyelitis|Vaccination Encephalitis Immune system disease|Nervous system disease|Pathology (process) Encephalomyelitis, Autoimmune, Experimental MESH:D004681 An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5) MESH:D020278|MESH:D020721 C10.114.703.300|C10.228.140.695.562.250|C10.314.350.250|C20.111.258.625.300 C10.114.703|C10.228.140.695.562|C10.314.350|C20.111.258.625 Allergic Encephalomyelitis|Allergic Encephalomyelitis, Experimental|Autoimmune Encephalomyelitis, Experimental|Autoimmune Experimental Encephalomyelitis|Encephalomyelitis, Allergic|Encephalomyelitis, Autoimmune Experimental|Encephalomyelitis, Experimental Allergic|Encephalomyelitis, Experimental Autoimmune|Experimental Allergic Encephalomyelitides|Experimental Allergic Encephalomyelitis|Experimental Autoimmune Encephalomyelitis|Experimental Encephalomyelitis, Autoimmune Immune system disease|Nervous system disease Encephalomyelitis, Eastern Equine MESH:D020242 DO:DOID:10841 A form of arboviral encephalitis (primarily affecting equines) endemic to eastern regions of North America. The causative organism (ENCEPHALOMYELITIS VIRUS, EASTERN EQUINE) may be transmitted to humans via the bite of AEDES mosquitoes. Clinical manifestations include the acute onset of fever, HEADACHE, altered mentation, and SEIZURES followed by coma. The condition is fatal in up to 50% of cases. Recovery may be marked by residual neurologic deficits and EPILEPSY. (From Joynt, Clinical Neurology, 1996, Ch26, pp9-10) MESH:D004683 C01.207.245.340.450.200|C01.207.291.323.162|C01.207.399.750.450.200|C01.920.500.078.370.162|C01.920.500.343.655.177|C01.925.081.343.655.177|C01.925.782.930.100.370.162|C10.228.140.430.520.750.450.200|C10.228.228.245.340.450.200|C10.228.228.291.323.162|C10.228.228.399.750.450.200|C10.586.250.520.750.450.200|C10.586.500.406.200 C01.207.245.340.450|C01.207.291.323|C01.207.399.750.450|C01.920.500.078.370|C01.920.500.343.655|C01.925.081.343.655|C01.925.782.930.100.370|C10.228.140.430.520.750.450|C10.228.228.245.340.450|C10.228.228.291.323|C10.228.228.399.750.450|C10.586.250.520.750.450|C10.586.500.406 Eastern Equine Encephalitides|Eastern Equine Encephalitis|Eastern Equine Encephalomyelitides|Eastern Equine Encephalomyelitis|Eastern Equine Encephalomyelitis Virus Infection|Encephalitides, Eastern Equine|Encephalitis, Eastern Equine|Encephalomyelitides, Eastern Equine|Equine Encephalitides, Eastern|Equine Encephalitis, Eastern|Equine Encephalomyelitides, Eastern|Equine Encephalomyelitis, Eastern Nervous system disease|Viral disease Encephalomyelitis, Enzootic Porcine MESH:D004682 A picornavirus infection producing symptoms similar to poliomyelitis in pigs. MESH:D004769|MESH:D013553 C01.925.782.687.359.456|C22.905.323 C01.925.782.687.359|C22.905 Disease, Talfan|Disease, Teschen|Enzootic Porcine Encephalomyelitis|Poliomyelitis, Porcine|Porcine Encephalomyelitis, Enzootic|Porcine Poliomyelitis|Talfan Disease|Teschen Disease Animal disease|Viral disease Encephalomyelitis, Equine MESH:D004683 A group of ALPHAVIRUS INFECTIONS which affect horses and man, transmitted via the bites of mosquitoes. Disorders in this category are endemic to regions of South America and North America. In humans, clinical manifestations vary with the type of infection, and range from a mild influenza-like syndrome to a fulminant encephalitis. (From Joynt, Clinical Neurology, 1996, Ch26, pp8-10) MESH:D004671|MESH:D004679|MESH:D018354|MESH:D018792 C01.207.245.340.450|C01.207.291.323|C01.207.399.750.450|C01.920.500.078.370|C01.920.500.343.655|C01.925.081.343.655|C01.925.182.525.450|C01.925.782.930.100.370|C10.228.140.430.520.750.450|C10.228.228.245.340.450|C10.228.228.291.323|C10.228.228.399.750.450|C10.586.250.520.750.450|C10.586.500.406 C01.207.245.340|C01.207.291|C01.207.399.750|C01.920.500.078|C01.920.500.343|C01.925.081.343|C01.925.182.525|C01.925.782.930.100|C10.228.140.430.520.750|C10.228.228.245.340|C10.228.228.291|C10.228.228.399.750|C10.586.250.520.750|C10.586.500 Encephalitis, Equine|Equine Encephalitis|Equine Encephalomyelitis|Equine Encephalomyelitis Viral Infections|Equine Encephalomyelitis Virus Infections|Infections, Equine Encephalomyelitis Virus Nervous system disease|Viral disease Encephalomyelitis, Venezuelan Equine MESH:D004685 DO:DOID:9584 A form of arboviral encephalitis endemic to Central America and the northern latitudes of South America. The causative organism (ENCEPHALITIS VIRUS, VENEZUELAN EQUINE) is transmitted to humans and horses via the bite of several mosquito species. Human viral infection may be asymptomatic or remain restricted to a mild influenza-like illness. Encephalitis, usually not severe, occurs in a small percentage of cases and may rarely feature SEIZURES and COMA. (From Joynt, Clinical Neurology, 1996, Ch26, pp9-10) MESH:D004683 C01.207.245.340.450.600|C01.207.291.323.325|C01.207.399.750.450.600|C01.920.500.078.370.325|C01.920.500.343.655.355|C01.925.081.343.655.355|C01.925.182.525.450.250|C01.925.782.930.100.370.325|C10.228.140.430.520.750.450.600|C10.228.228.245.340.450.600|C10.228.228.291.323.325|C10.228.228.399.750.450.600|C10.586.250.520.750.450.600|C10.586.500.406.225 C01.207.245.340.450|C01.207.291.323|C01.207.399.750.450|C01.920.500.078.370|C01.920.500.343.655|C01.925.081.343.655|C01.925.182.525.450|C01.925.782.930.100.370|C10.228.140.430.520.750.450|C10.228.228.245.340.450|C10.228.228.291.323|C10.228.228.399.750.450|C10.586.250.520.750.450|C10.586.500.406 Encephalitis, Venezuelan Equine|Encephalomyelitides, Venezuelan Equine|Equine Encephalitis, Venezuelan|Equine Encephalomyelitides, Venezuelan|Equine Encephalomyelitis, Venezuelan|Venezuelan Equine Encephalitis|Venezuelan Equine Encephalomyelitides|Venezuelan Equine Encephalomyelitis Nervous system disease|Viral disease Encephalomyelitis, Western Equine MESH:D020241 DO:DOID:10843 A form of arboviral encephalitis (which primarily affects horses) endemic to western and central regions of NORTH AMERICA. The causative organism (ENCEPHALOMYELITIS VIRUS, WESTERN EQUINE) may be transferred to humans via the bite of mosquitoes (CULEX tarsalis and others). Clinical manifestations include headache and influenza-like symptoms followed by alterations in mentation, SEIZURES, and COMA. DEATH occurs in a minority of cases. Survivors may recover fully or be left with residual neurologic dysfunction, including PARKINSONISM, POSTENCEPHALITIC. (From Joynt, Clinical Neurology, 1996, Ch26, pp8-9) MESH:D004683 C01.207.245.340.450.800|C01.207.291.323.662|C01.207.399.750.450.800|C01.920.500.078.370.662|C01.920.500.343.655.677|C01.925.081.343.655.677|C01.925.182.525.450.300|C01.925.782.930.100.370.662|C10.228.140.430.520.750.450.800|C10.228.228.245.340.450.800|C10.228.228.291.323.662|C10.228.228.399.750.450.800|C10.586.250.520.750.450.800|C10.586.500.406.250 C01.207.245.340.450|C01.207.291.323|C01.207.399.750.450|C01.920.500.078.370|C01.920.500.343.655|C01.925.081.343.655|C01.925.182.525.450|C01.925.782.930.100.370|C10.228.140.430.520.750.450|C10.228.228.245.340.450|C10.228.228.291.323|C10.228.228.399.750.450|C10.586.250.520.750.450|C10.586.500.406 Encephalitis, Western Equine|Equine Encephalitis, Western|Western Equine Encephalitis|Western Equine Encephalomyelitis Nervous system disease|Viral disease ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 OMIM:608033 MESH:D004684|MESH:D007239 C01/608033|C10.114.375.225.500/608033|C10.228.140.695.562.225.500/608033|C10.314.350.225.500/608033|C20.111.258.250.350.500/608033 C01|C10.114.375.225.500|C10.228.140.695.562.225.500|C10.314.350.225.500|C20.111.258.250.350.500 ANE1|ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO, 1|IIAE3 Immune system disease|Nervous system disease ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 OMIM:614212 MESH:D001927|MESH:D007239 C01/614212|C10.228.140/614212 C01|C10.228.140 IIAE4 Nervous system disease Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts MESH:C565596 MESH:D001928|MESH:D002386|MESH:D009135|MESH:D009202 C05.651/C565596|C10.228.140.163/C565596|C10.668.491/C565596|C11.510.245/C565596|C14.280.238/C565596|C18.452.132/C565596 C05.651|C10.228.140.163|C10.668.491|C11.510.245|C14.280.238|C18.452.132 Cardiovascular disease|Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease Encephalopathy, Bovine Spongiform MESH:D016643 DO:DOID:5435 A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5) MESH:D002418|MESH:D017096 C01.207.800.260|C10.228.228.800.260|C10.574.843.300|C22.196.250 C01.207.800|C10.228.228.800|C10.574.843|C22.196 Bovine Spongiform Encephalitis|Bovine Spongiform Encephalopathy|BSE (Bovine Spongiform Encephalopathy)|BSEs (Bovine Spongiform Encephalopathy)|Encephalitis, Bovine Spongiform|Mad Cow Disease|Mad Cow Diseases|Spongiform Encephalopathy, Bovine Animal disease|Nervous system disease ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 OMIM:614388 DO:DOID:0070347 MESH:D020739|MESH:D028361 C10.228.140.163.100/614388|C16.320.565.189/614388|C18.452.132.100/614388|C18.452.648.189/614388|C18.452.660/614388 C10.228.140.163.100|C16.320.565.189|C18.452.132.100|C18.452.648.189|C18.452.660 EMPF|EMPF1 Genetic disease (inborn)|Metabolic disease|Nervous system disease ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 OMIM:617086 MESH:D020739|MESH:D028361 C10.228.140.163.100/617086|C16.320.565.189/617086|C18.452.132.100/617086|C18.452.648.189/617086|C18.452.660/617086 C10.228.140.163.100|C16.320.565.189|C18.452.132.100|C18.452.648.189|C18.452.660 EMPF2 Genetic disease (inborn)|Metabolic disease|Nervous system disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations MESH:C566878 DO:DOID:0111932|OMIM:300673 MESH:D038901 C10.597.606.360.455/C566878|C16.320.322.500/C566878|C16.320.400.525/C566878 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Mecp2-Related Severe Neonatal Encephalopathy Genetic disease (inborn)|Nervous system disease ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM OMIM:617193 DO:DOID:0070423 MESH:D001284|MESH:D001927|MESH:D009421 C10.228.140/617193|C10.500/617193|C16.131.666/617193|C23.300.070/617193 C10.228.140|C10.500|C16.131.666|C23.300.070 PEBAT Congenital abnormality|Nervous system disease|Pathology (anatomical condition) ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 OMIM:617186 MESH:D001929|MESH:D056784 C10.228.140.187/617186|C10.228.140.695/617186 C10.228.140.187|C10.228.140.695 PEBEL|PEBEL1 Nervous system disease ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY OMIM:617207 MESH:D001927|MESH:D009134|MESH:D009896 C10.228.140/617207|C10.228.854.468/617207|C10.292.700.225/617207|C10.574.562.500/617207|C10.668.467.500/617207|C11.640.451/617207 C10.228.140|C10.228.854.468|C10.292.700.225|C10.574.562.500|C10.668.467.500|C11.640.451 PEAMO Eye disease|Nervous system disease ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY OMIM:615924 MESH:D001927|MESH:D008060 C10.228.140/615924|C17.800.849.391/615924|C18.452.584.625/615924|C18.452.880.391/615924 C10.228.140|C17.800.849.391|C18.452.584.625|C18.452.880.391 PELD Metabolic disease|Nervous system disease|Skin disease Encephalopathy, Spastic Tetraparesis, and Hypogonadism MESH:C565722 MESH:D007006|MESH:D009128|MESH:D010291|MESH:D020739 C05.651.512/C565722|C10.228.140.163.100/C565722|C10.597.613.550.550/C565722|C10.597.636/C565722|C16.320.565.189/C565722|C18.452.132.100/C565722|C18.452.648.189/C565722|C19.391.482/C565722|C23.888.592.608.550.550/C565722|C23.888.592.643/C565722 C05.651.512|C10.228.140.163.100|C10.597.613.550.550|C10.597.636|C16.320.565.189|C18.452.132.100|C18.452.648.189|C19.391.482|C23.888.592.608.550.550|C23.888.592.643 Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration MESH:C565594 MESH:D001928|MESH:D002114|MESH:D004393|MESH:D008607|MESH:D008831|MESH:D012162 C05.116.099.343.445/C565594|C05.116.132.358/C565594|C05.660.207.620/C565594|C10.228.140.163/C565594|C10.228.140.617.738.300.300/C565594|C10.500.507.400.500/C565594|C10.597.606.360/C565594|C11.270.612/C565594|C11.768.585/C565594|C16.131.621.207.620/C565594|C16.131.666.507.400.500/C565594|C18.452.132/C565594|C18.452.174.130/C565594|C19.297.312/C565594|C19.700.482.311/C565594|C23.888.592.604.646/C565594|F03.625.539/C565594 C05.116.099.343.445|C05.116.132.358|C05.660.207.620|C10.228.140.163|C10.228.140.617.738.300.300|C10.500.507.400.500|C10.597.606.360|C11.270.612|C11.768.585|C16.131.621.207.620|C16.131.666.507.400.500|C18.452.132|C18.452.174.130|C19.297.312|C19.700.482.311|C23.888.592.604.646|F03.625.539 Congenital abnormality|Endocrine system disease|Eye disease|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Enchondromatosis MESH:D004687 DO:DOID:4624|OMIM:166000 Benign growths of cartilage in the metaphyses of several bones. MESH:D010009 C05.116.099.708.338 C05.116.099.708 Chondrodysplasia with Hemangioma|Chondroplasia Angiomatosis|Disease, Ollier|Disease, Ollier's|Dyschondrodysplasia with Hemangiomas|DYSCHONDROPLASIA|Dyschondroplasia and Cavernous Hemangioma|Enchondroma, Multiple|Enchondromas, Multiple|Enchondromatoses|Enchondromatosis, Multiple|ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE|Enchondromatosis with Hemangiomata|Enchondromatosis with Multiple Cavernous Hemangiomas|Enchondroses, Multiple|Enchondrosis, Multiple|Hemangiomata with Dyschondroplasia|Hemangiomatosis Chondrodystrophica|Kast Syndrome|Maffucci Syndrome|Multiple Angiomas and Endochondromas|Multiple Enchondroma|Multiple Enchondromas|Multiple Enchondroses|Multiple Enchondrosis|Ollier Disease|Ollier's Disease|Olliers Disease|OSTEOCHONDROMATOSIS|Syndrome, Maffucci Musculoskeletal disease Encopresis MESH:D004688 Incontinence of feces not due to organic defect or illness. MESH:D012817|MESH:D019960 C23.888.821.266|F03.388.300 C23.888.821|F03.388 Mental disorder|Signs and symptoms Endarteritis MESH:D004692 Inflammation of the inner endothelial lining (TUNICA INTIMA) of an artery. MESH:D001167 C14.907.940.090.340 C14.907.940.090 Endarteritides Cardiovascular disease Endemic treponematosis caused by Treponema carateum MESH:C531782 MESH:D010874 C01.150.252.400.794.840.250/C531782|C01.150.252.400.840.250/C531782|C01.150.252.819.630/C531782|C01.800.720.630/C531782|C17.800.838.765.630/C531782 C01.150.252.400.794.840.250|C01.150.252.400.840.250|C01.150.252.819.630|C01.800.720.630|C17.800.838.765.630 Bacterial infection or mycosis|Skin disease Endocardial Cushion Defects MESH:D004694 DO:DOID:0050651 A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. MESH:D006343 C14.240.400.560.350|C14.280.400.560.350|C16.131.240.400.560.350 C14.240.400.560|C14.280.400.560|C16.131.240.400.560 Cushion Defect, Endocardial|Cushion Defects, Endocardial|Defect, Endocardial Cushion|Defects, Endocardial Cushion|Endocardial Cushion Defect|Persistent Common Atrioventricular Canal Cardiovascular disease|Congenital abnormality Endocardial Fibroelastosis MESH:D004695 DO:DOID:12929 A condition characterized by the thickening of ENDOCARDIUM due to proliferation of fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children and rarely in adults. It is often associated with congenital heart anomalies (HEART DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein, encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis. MESH:D009202 C14.280.238.281 C14.280.238 Endocardial Fibroelastoses|Endomyocardial Fibroelastosis|Fibroelastoses, Endocardial|Fibroelastosis, Endocardial Cardiovascular disease Endocardial Fibroelastosis and Coarctation of Abdominal Aorta MESH:C565592 MESH:D001017|MESH:D004695 C14.240.400.090/C565592|C14.280.238.281/C565592|C14.280.400.090/C565592|C16.131.240.400.090/C565592 C14.240.400.090|C14.280.238.281|C14.280.400.090|C16.131.240.400.090 Cardiovascular disease|Congenital abnormality Endocarditis MESH:D004696 DO:DOID:10314 Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening. MESH:D006331 C14.280.282 C14.280 Endocarditides|Endocarditides, Infective|Endocarditis, Infective|Infective Endocarditides|Infective Endocarditis Cardiovascular disease Endocarditis, Bacterial MESH:D004697 Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use. MESH:D001424|MESH:D004696|MESH:D053821 C01.150.252.245|C01.190.249|C14.260.249|C14.280.282.407 C01.150.252|C01.190|C14.260|C14.280.282 Bacterial Endocarditides|Bacterial Endocarditis|Endocarditides, Bacterial Bacterial infection or mycosis|Cardiovascular disease Endocarditis, Non-Infective MESH:D059905 DO:DOID:0060068 Formation of a non-infectious THROMBUS, referred to as vegetation, on previously undamaged ENDOCARDIUM. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see THROMBOPHILIA). MESH:D004696 C14.280.282.703 C14.280.282 Endocarditides, Marantic|Endocarditides, Non-Infective|Endocarditis, Marantic|Endocarditis, Non-Bacterial Thrombotic|Endocarditis, Non Infective|Marantic Endocarditides|Marantic Endocarditis|Non-Bacterial Thrombotic Endocarditis|Non-Infective Endocarditides|Non Infective Endocarditis|Non-Infective Endocarditis Cardiovascular disease Endocarditis, Subacute Bacterial MESH:D004698 DO:DOID:4562 ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection. MESH:D004697|MESH:D013290 C01.150.252.245.500|C01.150.252.410.890.335|C01.190.249.407|C14.260.249.407|C14.280.282.407.407 C01.150.252.245|C01.150.252.410.890|C01.190.249|C14.260.249|C14.280.282.407 Bacterial Endocarditides, Subacute|Bacterial Endocarditis, Subacute|Endocarditides, Subacute Bacterial|Endocarditis Lenta|Subacute Bacterial Endocarditides|Subacute Bacterial Endocarditis Bacterial infection or mycosis|Cardiovascular disease Endocrine-Cerebroosteodysplasia MESH:C567210 OMIM:612651 MESH:D002493|MESH:D004700 C10.228/C567210|C19/C567210 C10.228|C19 ECO Endocrine system disease|Nervous system disease Endocrine Gland Neoplasms MESH:D004701 DO:DOID:170 Tumors or cancer of the ENDOCRINE GLANDS. MESH:D004700|MESH:D009371 C04.588.322|C19.344 C04.588|C19 Cancer, Endocrine|Cancer, Endocrine Gland|Cancer of Endocrine Gland|Cancer of the Endocrine Gland|Cancers, Endocrine|Carcinoma, Endocrine Gland|Carcinoma of Endocrine Gland|Endocrine Cancer|Endocrine Cancers|Endocrine Gland Cancer|Endocrine Gland Carcinoma|Endocrine Gland Neoplasm|Neoplasm, Endocrine Gland|Neoplasms, Endocrine Gland Cancer|Endocrine system disease Endocrine System Diseases MESH:D004700 DO:DOID:28 Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES. MESH:C C19 C Disease, Endocrine|Disease, Endocrine System|Diseases, Endocrine|Diseases, Endocrine System|Diseases of Endocrine System|Endocrine Disease|Endocrine Diseases|Endocrine System Disease|System Disease, Endocrine|System Diseases, Endocrine Endocrine system disease Endodermal Sinus Tumor MESH:D018240 DO:DOID:1911 An unusual and aggressive tumor of germ-cell origin that reproduces the extraembryonic structures of the early embryo. It is the most common malignant germ cell tumor found in children. It is characterized by a labyrinthine glandular pattern of flat epithelial cells and rounded papillary processes with a central capillary (Schiller-Duval body). The tumor is rarely bilateral. Before the use of combination chemotherapy, the tumor was almost invariably fatal. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1189) MESH:D008649 C04.557.465.510.350 C04.557.465.510 Endodermal Sinus Tumors|Tumor, Endodermal Sinus|Tumors, Endodermal Sinus|Tumors, Yolk Sac|Tumor, Yolk Sac|Yolk Sac Tumor|Yolk Sac Tumors Cancer Endoleak MESH:D057867 Postoperative hemorrhage from an endovascular AORTIC ANEURYSM repaired with endoluminal placement of stent grafts (ENDOVASCULAR ANEURYSM REPAIR). It is associated with pressurization, expansion, and eventual rupture of the aneurysm. MESH:D000783|MESH:D019106 C14.907.055.501|C23.550.414.941.500|C23.550.767.850.500 C14.907.055|C23.550.414.941|C23.550.767.850 Endoleaks|Leak, Perigraft|Perigraft Leak|Perigraft Leaks Cardiovascular disease|Pathology (process) Endolymphatic Hydrops MESH:D018159 DO:DOID:9848 An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO. MESH:D007759 C09.218.568.217 C09.218.568 Hydrops, Endolymphatic Ear-nose-throat disease Endometrial Hyperplasia MESH:D004714 DO:DOID:0080365 Benign proliferation of the ENDOMETRIUM in the UTERUS. Endometrial hyperplasia is classified by its cytology and glandular tissue. There are simple, complex (adenomatous without atypia), and atypical hyperplasia representing also the ascending risk of becoming malignant. MESH:D014591 C12.050.351.500.852.228|C12.100.250.852.228 C12.050.351.500.852|C12.100.250.852 Atypical Endometrial Hyperplasia|Atypical Endometrial Hyperplasias|Complex Endometrial Hyperplasia|Complex Endometrial Hyperplasias|Endometrial Hyperplasia, Atypical|Endometrial Hyperplasia, Complex|Endometrial Hyperplasias|Endometrial Hyperplasias, Atypical|Endometrial Hyperplasias, Complex|Endometrial Hyperplasia, Simple|Endometrial Hyperplasias, Simple|Hyperplasia, Atypical Endometrial|Hyperplasia, Complex Endometrial|Hyperplasia, Endometrial|Hyperplasias, Atypical Endometrial|Hyperplasias, Complex Endometrial|Hyperplasias, Endometrial|Hyperplasia, Simple Endometrial|Hyperplasias, Simple Endometrial|Simple Endometrial Hyperplasia|Simple Endometrial Hyperplasias Urogenital disease (female) Endometrial Neoplasms MESH:D016889 DO:DOID:1380|DO:DOID:2871|OMIM:608089 Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells. MESH:D014594 C04.588.945.418.948.585|C12.050.351.500.852.762.200|C12.050.351.937.418.875.200|C12.100.250.852.762.200|C12.900.418.875.200 C04.588.945.418.948|C12.050.351.500.852.762|C12.050.351.937.418.875|C12.100.250.852.762|C12.900.418.875 Cancer, Endometrial|Cancer, Endometrium|Cancer of Endometrium|Cancer of the Endometrium|Cancers, Endometrial|Cancers, Endometrium|Carcinoma, Endometrial|Carcinoma of Endometrium|Carcinomas, Endometrial|Endometrial Cancer|Endometrial Cancers|Endometrial Carcinoma|Endometrial Carcinomas|Endometrial Neoplasm|Endometrium Cancer|Endometrium Cancers|Endometrium Carcinoma|Endometrium Carcinomas|Neoplasm, Endometrial|Neoplasms, Endometrial Cancer|Urogenital disease (female) Endometrial Stromal Tumors MESH:D036821 DO:DOID:5166 Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL). MESH:D009372|MESH:D012509|MESH:D016889 C04.557.450.565.325|C04.557.450.795.332|C12.050.351.500.852.762.200.500|C12.050.351.937.418.875.200.374|C12.100.250.852.762.200.500|C12.900.418.875.200.374 C04.557.450.565|C04.557.450.795|C12.050.351.500.852.762.200|C12.050.351.937.418.875.200|C12.100.250.852.762.200|C12.900.418.875.200 Endolymphatic Stromal Myoses|Endolymphatic Stromal Myosis|Endometrial Stromal Tumor|Myoses, Endolymphatic Stromal|Myosis, Endolymphatic Stromal|Sarcoma, Endometrial Stromal, Low-Grade|Stromal Myoses, Endolymphatic|Stromal Myosis, Endolymphatic|Stromal Tumor, Endometrial|Stromal Tumors, Endometrial|Tumor, Endometrial Stromal|Tumors, Endometrial Stromal Cancer|Urogenital disease (female) Endometriosis MESH:D004715 DO:DOID:289|OMIM:131200 A condition in which functional endometrial tissue is present outside the UTERUS. It is often confined to the PELVIS involving the OVARY, the ligaments, cul-de-sac, and the uterovesical peritoneum. MESH:D005831 C12.050.351.500.163|C12.100.250.163 C12.050.351.500|C12.100.250 ENDO1|Endometrioma|Endometriomas|Endometrioses|ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1 Urogenital disease (female) Endometritis MESH:D004716 DO:DOID:1002 Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever. MESH:D000292|MESH:D014591 C12.050.351.500.056.750.249|C12.050.351.500.852.299|C12.100.250.056.750.249|C12.100.250.852.299 C12.050.351.500.056.750|C12.050.351.500.852|C12.100.250.056.750|C12.100.250.852 Endomyometritis Urogenital disease (female) Endomyocardial Fibrosis MESH:D004719 DO:DOID:12932 A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE). MESH:D009202 C14.280.238.406 C14.280.238 Endomyocardial Fibroses|Fibroses, Endomyocardial|Fibrosis, Endomyocardial Cardiovascular disease Endophthalmitis MESH:D009877 DO:DOID:4692 Suppurative inflammation of the tissues of the internal structures of the eye frequently associated with an infection. MESH:D015817 C01.375.265|C11.294.265 C01.375|C11.294 Endophthalmitides|Endophthalmitides, Infectious|Endophthalmitis, Infectious|Infectious Endophthalmitides|Infectious Endophthalmitis|Ophthalmia|Ophthalmias Eye disease Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia MESH:C565591 MESH:D003317|MESH:D009260 C11.204.236/C565591|C11.270.162/C565591|C16.320.290.162/C565591|C17.800.529/C565591 C11.204.236|C11.270.162|C16.320.290.162|C17.800.529 Eye disease|Genetic disease (inborn)|Skin disease Endotoxemia MESH:D019446 A condition characterized by the presence of ENDOTOXINS in the blood. On lysis, the outer cell wall of gram-negative bacteria enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators. MESH:D014115|MESH:D016470 C01.757.100.275|C01.861.375|C23.550.470.790.500.100.275 C01.757.100|C01.861|C23.550.470.790.500.100 Endotoxemias Pathology (process) Endotoxin Hyporesponsiveness MESH:C566417 MESH:D007153 C20.673/C566417 C20.673 Immune system disease Endplate Acetylcholinesterase Deficiency MESH:C566415 OMIM:603034 MESH:D020294 C10.668.758.800/C566415|C16.320.590/C566415 C10.668.758.800|C16.320.590 CMS1C, FORMERLY|CMS5|CMS Ic, FORMERLY|Congenital Myasthenic Syndrome Type Ic|CONGENITAL MYASTHENIC SYNDROME TYPE Ic, FORMERLY|EAD|ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY|Engel Congenital Myasthenic Syndrome|MYASTHENIC SYNDROME, CONGENITAL, 5|Myasthenic Syndrome, Congenital, Engel Type Genetic disease (inborn)|Nervous system disease End Stage Liver Disease MESH:D058625 Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed. MESH:D017093 C06.552.308.500.177 C06.552.308.500 Chronic Liver Failure|Chronic Liver Failures|Failure, Chronic Liver|Failures, Chronic Liver|Liver Failure, Chronic|Liver Failures, Chronic Digestive system disease Enhanced S-Cone Syndrome MESH:C564835 DO:DOID:0090059|OMIM:268100 MESH:D012162|MESH:D014786|MESH:D015785 C10.597.751.941/C564835|C11.270.612/C564835|C11.270/C564835|C11.768.585/C564835|C11.966/C564835|C16.320.290/C564835|C23.888.592.763.941/C564835 C10.597.751.941|C11.270|C11.270.612|C11.768.585|C11.966|C16.320.290|C23.888.592.763.941 ESCS|Favre Hyaloideoretinal Degeneration|FAVRE HYALOIDEORETINAL DEGENERATION, INCLUDED|Goldmann-Favre Syndrome|GOLDMANN-FAVRE SYNDROME, INCLUDED|Retinoschisis with Early Hemeralopia|RETINOSCHISIS WITH EARLY HEMERALOPIA, INCLUDED Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Enophthalmos MESH:D015841 DO:DOID:11175 Recession of the eyeball into the orbit. MESH:D009916 C11.675.319 C11.675 Eye disease Enoplida Infections MESH:D017189 DO:DOID:12474 Infections with nematodes of the order ENOPLIDA. MESH:D017188 C01.610.335.508.100.275 C01.610.335.508.100 Capillaria hepatica Infection|Capillaria hepatica Infections|Capillaria Infection|Capillaria Infections|Capillaria philippinensis Infection|Capillaria philippinensis Infections|Capillariases|Capillariasis|Capillariasis, Hepatic|Capillariasis, Intestinal|Dioctophyma renale Infection|Dioctophyma renale Infections|Dioctophyme renale Infection|Dioctophyme renale Infections|Dioctophymiases|Dioctophymiasis|Enoplida Infection|Giant Kidney Worm Infection|Hepatic Capillariases|Hepatic Capillariasis|Infection, Capillaria|Infection, Capillaria hepatica|Infection, Capillaria philippinensis|Infection, Dioctophyma renale|Infection, Dioctophyme renale|Infection, Enoplida|Infections, Dioctophyma renale|Infections, Enoplida|Intestinal Capillariases|Intestinal Capillariasis Parasitic disease Entamoebiasis MESH:D004749 Infection with amoebae of the genus ENTAMOEBA. Infection with E. histolytica causes DYSENTERY, AMEBIC and LIVER ABSCESS, AMEBIC. MESH:D000562 C01.610.752.049.407 C01.610.752.049 Entamoeba histolytica Infection|Entamoeba histolytica Infections|Entamoeba Infection|Entamoeba Infections|Entamoebiases|Infection, Entamoeba|Infection, Entamoeba histolytica|Infections, Entamoeba|Infections, Entamoeba histolytica Parasitic disease Enteritis MESH:D004751 Inflammation of any segment of the SMALL INTESTINE. MESH:D005759|MESH:D007410 C06.405.205.462|C06.405.469.326 C06.405.205|C06.405.469 Enteritides Digestive system disease Enteritis, Transmissible, of Turkeys MESH:D004753 An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a CORONAVIRUS. MESH:D011201|MESH:D018352 C01.925.782.600.550.200.325|C22.131.728.250 C01.925.782.600.550.200|C22.131.728 Bluecomb of Turkeys|Transmissible Enteritis of Turkeys Animal disease|Viral disease Enterobacteriaceae Infections MESH:D004756 Infections with bacteria of the family ENTEROBACTERIACEAE. MESH:D016905 C01.150.252.400.310 C01.150.252.400 Cronobacter Infection|Cronobacter Infections|Enterobacteriaceae Infection|Enterobacterial Infection|Enterobacterial Infections|Infection, Cronobacter|Infection, Enterobacteriaceae|Infection, Enterobacterial|Infections, Cronobacter|Infections, Enterobacteriaceae|Infections, Enterobacterial Bacterial infection or mycosis Enterobiasis MESH:D017229 Infection with nematodes of the genus ENTEROBIUS; E. vermicularis, the pinworm of man, causes a crawling sensation and pruritus. This condition results in scratching the area, occasionally causing scarification. MESH:D010123 C01.610.335.508.700.550.550.375 C01.610.335.508.700.550.550 Enterobiases|Enterobius vermicularis Infection|Enterobius vermicularis Infections|Infection, Enterobius vermicularis|Infection, Oxyuris vermicularis|Infection, Pinworm|Infections, Enterobius vermicularis|Infections, Oxyuris vermicularis|Infections, Pinworm|Oxyuris vermicularis Infection|Oxyuris vermicularis Infections|Pinworm Infection|Pinworm Infections Parasitic disease Enterocolitis MESH:D004760 Inflammation of the MUCOSA of both the SMALL INTESTINE and the LARGE INTESTINE. Etiology includes ISCHEMIA, infections, allergic, and immune responses. MESH:D005759|MESH:D007410 C06.405.205.596|C06.405.469.363 C06.405.205|C06.405.469 Enterocolitides Digestive system disease Enterocolitis, Necrotizing MESH:D020345 DO:DOID:8677 ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT. MESH:D004760 C06.405.205.596.700|C06.405.469.363.700 C06.405.205.596|C06.405.469.363 Necrotizing Enterocolitis Digestive system disease Enterocolitis, Neutropenic MESH:D044504 A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST). MESH:D004760 C06.405.205.596.750|C06.405.469.363.750 C06.405.205.596|C06.405.469.363 Ileocecal Syndrome|Neutropenic Enterocolitis Digestive system disease Enterocolitis, Pseudomembranous MESH:D004761 DO:DOID:0060185 An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization. MESH:D003015|MESH:D004760 C01.150.252.410.222.310|C06.405.205.596.800|C06.405.469.363.800 C01.150.252.410.222|C06.405.205.596|C06.405.469.363 Antibiotic Associated Colitis|Antibiotic-Associated Colitis|Clostridium Enterocolitis|Colitis, Antibiotic-Associated|Colitis, Pseudomembranous|Enteritis, Pseudomembranous|Pseudomembranous Colitis|Pseudomembranous Enteritis|Pseudomembranous Enterocolitis Bacterial infection or mycosis|Digestive system disease Enterokinase Deficiency MESH:C562649 DO:DOID:0111667|OMIM:226200 MESH:D008661 C16.320.565/C562649|C18.452.648/C562649 C16.320.565|C18.452.648 Enteropeptidase Deficiency Genetic disease (inborn)|Metabolic disease Enteropathy-Associated T-Cell Lymphoma MESH:D058527 A primary peripheral T-cell lymphoma in the gastrointestinal tract, most often in the jejunum, associated with a history of CELIAC DISEASE or other gastrointestinal diseases. MESH:D016399 C04.557.386.480.750.099|C15.604.515.569.480.750.399|C20.683.515.761.480.750.199 C04.557.386.480.750|C15.604.515.569.480.750|C20.683.515.761.480.750 Enteropathy Associated T Cell Lymphoma|Enteropathy-Associated T-Cell Lymphomas|Lymphomas, Enteropathy-Associated T-Cell|Lymphoma, T-Cell, Enteropathy-Associated|T Cell Lymphoma, Enteropathy Associated|T-Cell Lymphoma, Enteropathy-Associated|T-Cell Lymphomas, Enteropathy-Associated Cancer|Immune system disease|Lymphatic disease Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency MESH:C563949 MESH:D000081207|MESH:D004487|MESH:D011504 C06.405.469.818/C563949|C16.320.798/C563949|C20.673.795/C563949|C23.888.277/C563949 C06.405.469.818|C16.320.798|C20.673.795|C23.888.277 Digestive system disease|Genetic disease (inborn)|Immune system disease|Signs and symptoms Enterotoxemia MESH:D004767 Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease. MESH:D000820|MESH:D003015 C01.150.252.410.222.325|C22.313 C01.150.252.410.222|C22 Enterotoxemias Animal disease|Bacterial infection or mycosis Enterovirus Infections MESH:D004769 Diseases caused by ENTEROVIRUS. MESH:D010850 C01.925.782.687.359 C01.925.782.687 Enterovirus Infection|Infection, Enterovirus|Infections, Enterovirus Viral disease Enthesopathy MESH:D000070676 DO:DOID:204 A disorder occurring at the site of insertion of TENDONS or LIGAMENTS into bones or JOINT CAPSULES. MESH:D052256 C05.651.869.653|C26.874.800.750 C05.651.869|C26.874.800 Enthesopathies Musculoskeletal disease|Wounds and injuries Entomophobia MESH:C000719201 MESH:D010698 F03.080.725/C000719201 F03.080.725 Fear of insects|Insectophobia|Phobia, insects Mental disorder entomophthoromycosis MESH:C000656785 MESH:D020096 C01.150.703.980/C000656785 C01.150.703.980 basidiobolomycosis|Basidiobolus ranarum infection|conidiobolomycosis|Conidiobolus coronatus infection|Conidiobolus infection|entomophthorales infection|rhinoconidiobolomycosis|rhinoentomophthoramycosis Bacterial infection or mycosis Entropion MESH:D004774 DO:DOID:12397 The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed) MESH:D005141 C11.338.443 C11.338 Entropions Eye disease Enuresis MESH:D004775 Involuntary discharge of URINE after expected age of completed development of urinary control. This can happen during the daytime (DIURNAL ENURESIS) while one is awake or during sleep (NOCTURNAL ENURESIS). Enuresis can be in children or in adults (as persistent primary enuresis and secondary adult-onset enuresis). MESH:D014555|MESH:D019960 C12.050.351.968.934.252|C12.200.777.934.284|C12.950.934.252|F03.388.400 C12.050.351.968.934|C12.200.777.934|C12.950.934|F03.388 Mental disorder|Urogenital disease (female)|Urogenital disease (male) Enuresis, Nocturnal, 2 MESH:C563439 OMIM:600808 MESH:D053206 C12.050.351.968.934.252.500/C563439|C12.200.777.934.284.500/C563439|C12.950.934.252.500/C563439|F03.388.400.500/C563439 C12.050.351.968.934.252.500|C12.200.777.934.284.500|C12.950.934.252.500|F03.388.400.500 ENUR2 Mental disorder|Urogenital disease (female)|Urogenital disease (male) Environmental Illness MESH:D018876 A polysymptomatic condition believed by clinical ecologists to result from immune dysregulation induced by common foods, allergens, and chemicals, resulting in various physical and mental disorders. The medical community has remained largely skeptical of the existence of this 'disease', given the plethora of symptoms attributed to environmental illness, the lack of reproducible laboratory abnormalities, and the use of unproven therapies to treat the condition. (From Segen, Dictionary of Modern Medicine, 1992) MESH:D006967|MESH:D007280 C20.543.312|C21.223 C20.543|C21 Environmental Hypersensitivities|Environmental Hypersensitivity|Environmental Illnesses|Hypersensitivities, Environmental|Hypersensitivity, Environmental|Illness, Environmental|Illnesses, Environmental Environmental origin disorders|Immune system disease Enzootic Bovine Leukosis MESH:D016583 A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding. MESH:D002418|MESH:D006800|MESH:D007938 C01.925.782.815.200.260|C04.557.337.100|C20.673.483.260|C22.196.260 C01.925.782.815.200|C04.557.337|C20.673.483|C22.196 Bovine Leukemia|Bovine Leukemias|Bovine Leukoses|Bovine Leukoses, Enzootic|Bovine Leukosis|Bovine Leukosis, Enzootic|Bovine Lymphoma|Bovine Lymphomas|Bovine Lymphosarcoma|Bovine Lymphosarcomas|Enzootic Bovine Leukoses|Leukemia, Bovine|Leukemias, Bovine|Leukoses, Bovine|Leukoses, Enzootic Bovine|Leukosis, Bovine|Leukosis, Enzootic Bovine|Lymphoma, Bovine|Lymphomas, Bovine|Lymphosarcoma, Bovine|Lymphosarcomas, Bovine Animal disease|Cancer|Immune system disease|Viral disease Eosinophilia MESH:D004802 DO:DOID:999 Abnormal increase of EOSINOPHILS in the blood, tissues or organs. MESH:D007960 C15.378.553.231 C15.378.553 Eosinophilia, Tropical|Hypereosinophilia|Hypereosinophilias|Tropical Eosinophilia|Tropical Eosinophilias Blood disease Eosinophilia, Familial MESH:C562722 OMIM:131400 MESH:D004802 C15.378.553.231/C562722 C15.378.553.231 EOS|Familial eosinophilia Blood disease Eosinophilia-Myalgia Syndrome MESH:D016603 DO:DOID:998 A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93) MESH:D004802|MESH:D009135 C05.651.290|C10.668.491.050|C15.378.553.231.335 C05.651|C10.668.491|C15.378.553.231 Eosinophilia Myalgia Syndrome|Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related|Eosinophilia-Myalgia Syndromes|Eosinophilia-Myalgia Syndromes, L-Tryptophan-Related|L-Tryptophan-Related Eosinophilia-Myalgia Syndrome|L-Tryptophan-Related Eosinophilia-Myalgia Syndromes|Syndrome, Eosinophilia-Myalgia|Syndrome, Eosinophilia-Myalgia, L-Tryptophan-Related|Syndrome, L-Tryptophan-Related Eosinophilia-Myalgia|Syndromes, Eosinophilia-Myalgia|Syndromes, L-Tryptophan-Related Eosinophilia-Myalgia Blood disease|Musculoskeletal disease|Nervous system disease Eosinophilic enteropathy MESH:C535952 MESH:D004751|MESH:D004802|MESH:D005756 C06.405.205.462/C535952|C06.405.205.697/C535952|C06.405.469.326/C535952|C06.405.748.398/C535952|C15.378.553.231/C535952 C06.405.205.462|C06.405.205.697|C06.405.469.326|C06.405.748.398|C15.378.553.231 Eosinophilic enteritis|Eosinophilic gastritis|Eosinophilic gastroenteritis|Eosinophilic gastroenteropathy Blood disease|Digestive system disease Eosinophilic Esophagitis MESH:D057765 DO:DOID:13922|OMIM:610247|OMIM:613412 Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens. MESH:D004802|MESH:D004941|MESH:D006969 C06.405.117.620.209|C06.405.205.663.209|C15.378.553.231.341|C20.543.480.356 C06.405.117.620|C06.405.205.663|C15.378.553.231|C20.543.480 Chronic Esophagitides, Eosinophilic|Chronic Esophagitis, Eosinophilic|EE|EOE1|EOE2|Eosinophilic Chronic Esophagitides|Eosinophilic Chronic Esophagitis|Eosinophilic Esophagitides|Esophagitides, Eosinophilic|Esophagitides, Eosinophilic Chronic|Esophagitis, Eosinophilic|ESOPHAGITIS, EOSINOPHILIC, 1|ESOPHAGITIS, EOSINOPHILIC, 2|Esophagitis, Eosinophilic Chronic Blood disease|Digestive system disease|Immune system disease Eosinophilic Fasciitis MESH:C562487 MESH:D004802|MESH:D005208 C05.321/C562487|C15.378.553.231/C562487 C05.321|C15.378.553.231 diffuse fasciitis with eosinophilia|Shulman syndrome Blood disease|Musculoskeletal disease Eosinophilic Granuloma MESH:D004803 The most benign and common form of Langerhans-cell histiocytosis which involves localized nodular lesions predominantly of the bones but also of the gastric mucosa, small intestine, lungs, or skin, with infiltration by EOSINOPHILS. MESH:D001847|MESH:D004802|MESH:D006099|MESH:D006646 C05.116.391|C08.381.483.375.500|C15.378.553.231.348|C15.604.250.400.360|C23.550.382.250 C05.116|C08.381.483.375|C15.378.553.231|C15.604.250.400|C23.550.382 Eosinophilic Granulomas|Granuloma, Eosinophilic|Granulomas, Eosinophilic Blood disease|Lymphatic disease|Musculoskeletal disease|Pathology (process)|Respiratory tract disease Eosinophilic pustular folliculitis MESH:C535953 MESH:D004802|MESH:D005499|MESH:D012872 C15.378.553.231/C535953|C17.800.329.500/C535953|C17.800.865/C535953 C15.378.553.231|C17.800.329.500|C17.800.865 Eosinophilic folliculitis, pustular|Ofuji disease|Ofuji's disease Blood disease|Skin disease Eosinophilic synovitis MESH:C535954 MESH:D004802|MESH:D013585 C05.550.870/C535954|C15.378.553.231/C535954 C05.550.870|C15.378.553.231 Idiopathic eosinophilic synovitis Blood disease|Musculoskeletal disease Ependymoma MESH:D004806 DO:DOID:4844|DO:DOID:5075|DO:DOID:5500|DO:DOID:5505 Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9) MESH:D005910 C04.557.465.625.600.380.290|C04.557.470.670.380.290|C04.557.580.625.600.380.290 C04.557.465.625.600.380|C04.557.470.670.380|C04.557.580.625.600.380 Anaplastic Ependymoma|Anaplastic Ependymomas|Cellular Ependymoma|Clear Cell Ependymoma|Ependymoma, Anaplastic|Ependymoma, Myxopapillary|Ependymoma, Papillary|Ependymomas|Ependymomas, Anaplastic|Ependymomas, Myxopapillary|Ependymomas, Papillary|Myxopapillary Ependymoma|Myxopapillary Ependymomas|Papillary Ependymoma|Papillary Ependymomas Cancer Ephemeral Fever MESH:D004810 An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (EPHEMERAL FEVER VIRUS, BOVINE). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness. MESH:D002418|MESH:D018353 C01.925.782.580.830.375|C22.196.274 C01.925.782.580.830|C22.196 Fever, Ephemeral|Sickness, Three-Day|Three Day Sickness|Three-Day Sickness Animal disease|Viral disease Epiblepharon of Upper Lid MESH:C565051 MESH:D005141 C11.338/C565051 C11.338 Epiblepharon of Lower Lid Eye disease Epidermal Cyst MESH:D004814 Intradermal or subcutaneous saclike structure, the wall of which is stratified epithelium containing keratohyalin granules. MESH:D003560 C04.182.254 C04.182 Cyst, Epidermal|Cyst, Epidermoid|Cyst, Pilar|Cyst, Sebaceous|Cysts, Epidermal|Cysts, Epidermoid|Cysts, Pilar|Cysts, Sebaceous|Epidermal Cysts|Epidermoid Cyst|Epidermoid Cysts|Pilar Cyst|Pilar Cysts|Sebaceous Cyst|Sebaceous Cysts Cancer Epidermal Nevus MESH:C580062 DO:DOID:0111162|OMIM:162900 MESH:D009506 C04.557.665.560/C580062 C04.557.665.560 Epidermal Naevus|Nevus, Epidermal|Nevus, Keratinocytic, Nonepidermolytic|NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC NEVUS SEBACEOUS, INCLUDED|NEVUS, WOOLLY HAIR, INCLUDED Cancer Epidermitis, Exudative, of Swine MESH:D004818 An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed) MESH:D013553 C22.905.382 C22.905 Disease, Greasy Pig|Epidermitis, Exudative of Swine|Exudative Dermatitis of Swine|Greasy Pig Disease|Swine Exudative Dermatitides|Swine Exudative Dermatitis Animal disease Epidermodysplasia Verruciformis MESH:D004819 DO:DOID:13777|OMIM:226400 An autosomal recessive trait with impaired cell-mediated immunity. About 15 human papillomaviruses are implicated in associated infection, four of which lead to skin neoplasms. The disease begins in childhood with red papules and later spreads over the body as gray or yellow scales. MESH:D014860 C01.925.256.650.810.345|C01.925.825.810.260|C01.925.928.914.345|C17.800.838.790.810.260 C01.925.256.650.810|C01.925.825.810|C01.925.928.914|C17.800.838.790.810 Disease, Lewandowsky-Lutz|Disease, Lutz-Lewandowsky|EPIDERMODYSPLASIA VERRUCIFORMIS|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1|EV|EV1|Lewandowsky Lutz Disease|Lewandowsky-Lutz Disease|Lutz Lewandowsky Disease|Lutz-Lewandowsky Disease Skin disease|Viral disease Epidermodysplasia Verruciformis, X-Linked MESH:C564430 MESH:D004819|MESH:D040181 C01.925.256.650.810.345/C564430|C01.925.825.810.260/C564430|C01.925.928.914.345/C564430|C16.320.322/C564430|C17.800.838.790.810.260/C564430 C01.925.256.650.810.345|C01.925.825.810.260|C01.925.928.914.345|C16.320.322|C17.800.838.790.810.260 Genetic disease (inborn)|Skin disease|Viral disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy MESH:C535955 OMIM:226670 MESH:D016110|MESH:D049288 C05.651.534.500.280/C535955|C10.668.491.175.500.149/C535955|C16.131.831.493.180/C535955|C16.320.577.280/C535955|C16.320.850.275.180/C535955|C17.800.804.493.180/C535955|C17.800.827.275.180/C535955|C17.800.865.410.180/C535955 C05.651.534.500.280|C10.668.491.175.500.149|C16.131.831.493.180|C16.320.577.280|C16.320.850.275.180|C17.800.804.493.180|C17.800.827.275.180|C17.800.865.410.180 EBS5B|EBSMD|EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY|Epidermolysis Bullosa Simplex and Limb-Girdle Muscular Dystrophy|Epidermolysis Bullosa Simplex with Muscular Dystrophy|MD-EBS|MDEBS Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Skin disease Epidermolysis Bullosa MESH:D004820 DO:DOID:2730|OMIM:615028 Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties. MESH:D012868|MESH:D012872|MESH:D012873 C16.131.831.493|C16.320.850.275|C17.800.804.493|C17.800.827.275|C17.800.865.410 C16.131.831|C16.320.850|C17.800.804|C17.800.827|C17.800.865 Acantholysis Bullosa|EBS4|EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa Acquisita MESH:D016107 DO:DOID:4313 Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IMMUNOGLOBULIN G deposited at the dermo-epidermal junction. MESH:D004820 C16.131.831.493.080|C17.800.804.493.080|C17.800.827.275.080|C17.800.865.410.080 C16.131.831.493|C17.800.804.493|C17.800.827.275|C17.800.865.410 Acquired Epidermolysis Bullosa|Acquired Form of Epidermolysis Bullosa|Epidermolysis Bullosa, Acquired Congenital abnormality|Skin disease Epidermolysis Bullosa Dystrophica MESH:D016108 DO:DOID:4959|OMIM:226600 Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS. MESH:D003095|MESH:D004820 C16.131.831.493.160|C16.320.850.275.160|C17.300.200.367|C17.800.804.493.160|C17.800.827.275.160|C17.800.865.410.160 C16.131.831.493|C16.320.850.275|C17.300.200|C17.800.804.493|C17.800.827.275|C17.800.865.410 Bullosa Dystrophica, Epidermolysis|Bullosa Dystrophicas, Epidermolysis|Bullosa, Dystrophic Epidermolysis|Bullosas, Dystrophic Epidermolysis|Cockayne Touraine Disease|Cockayne-Touraine Disease|Cockayne Touraine Type Epidermolysis Bullosa|Cockayne-Touraine Type Epidermolysis Bullosa|Dystrophica, Epidermolysis Bullosa|Dystrophicas, Epidermolysis Bullosa|Dystrophic Epidermolysis Bullosa|Dystrophic Epidermolysis Bullosa, Autosomal Recessive|Dystrophic Epidermolysis Bullosas|EBR1|Epidermolysis Bullosa, Dystrophic|Epidermolysis Bullosa Dystrophica, Autosomal Recessive|Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type|Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type|Epidermolysis Bullosa Dystrophica, Dominant|EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED|Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type|Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type|EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED|Epidermolysis Bullosa Dystrophica, Recessive|Epidermolysis Bullosa Dystrophicas|Epidermolysis Bullosas, Dystrophic|Hallopeau Siemens Disease|Hallopeau-Siemens Disease|RDEB Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant MESH:C567121 MESH:D016108 C16.131.831.493.160/C567121|C16.320.850.275.160/C567121|C17.300.200.367/C567121|C17.800.804.493.160/C567121|C17.800.827.275.160/C567121|C17.800.865.410.160/C567121 C16.131.831.493.160|C16.320.850.275.160|C17.300.200.367|C17.800.804.493.160|C17.800.827.275.160|C17.800.865.410.160 Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive MESH:C567122 MESH:D016108 C16.131.831.493.160/C567122|C16.320.850.275.160/C567122|C17.300.200.367/C567122|C17.800.804.493.160/C567122|C17.800.827.275.160/C567122|C17.800.865.410.160/C567122 C16.131.831.493.160|C16.320.850.275.160|C17.300.200.367|C17.800.804.493.160|C17.800.827.275.160|C17.800.865.410.160 Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa Dystrophica Neurotrophica MESH:C562637 OMIM:226500 MESH:D016108 C16.131.831.493.160/C562637|C16.320.850.275.160/C562637|C17.300.200.367/C562637|C17.800.804.493.160/C562637|C17.800.827.275.160/C562637|C17.800.865.410.160/C562637 C16.131.831.493.160|C16.320.850.275.160|C17.300.200.367|C17.800.804.493.160|C17.800.827.275.160|C17.800.865.410.160 EBR3|Epidermolysis Bullosa Progressiva, Recessive|Epidermolysis Bullosa With Congenital Deafness Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Epidermolysis bullosa dystrophica, Pasini type MESH:C535956 OMIM:131750 MESH:D016108 C16.131.831.493.160/C535956|C16.320.850.275.160/C535956|C17.300.200.367/C535956|C17.800.804.493.160/C535956|C17.800.827.275.160/C535956|C17.800.865.410.160/C535956 C16.131.831.493.160|C16.320.850.275.160|C17.300.200.367|C17.800.804.493.160|C17.800.827.275.160|C17.800.865.410.160 Albopapuloid dominant dystrophic EB|ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA;EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED|DDEB|Dystrophic Epidermolysis Bullosa, Autosomal Dominant|EBDCT|EBDSC, INCLUDED|Epidermolysis Bullosa Dystrophica, Autosomal Dominant|EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE|EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage MESH:C567272 MESH:D016108 C16.131.831.493.160/C567272|C16.320.850.275.160/C567272|C17.300.200.367/C567272|C17.800.804.493.160/C567272|C17.800.827.275.160/C567272|C17.800.865.410.160/C567272 C16.131.831.493.160|C16.320.850.275.160|C17.300.200.367|C17.800.804.493.160|C17.800.827.275.160|C17.800.865.410.160 Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Epidermolysis bullosa inversa dystrophica MESH:C535958 MESH:D016109 C16.131.831.493.170/C535958|C16.320.850.275.170/C535958|C17.800.804.493.170/C535958|C17.800.827.275.170/C535958|C17.800.865.410.170/C535958 C16.131.831.493.170|C16.320.850.275.170|C17.800.804.493.170|C17.800.827.275.170|C17.800.865.410.170 Junctional epidermolysis bullosa inversa Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa, Junctional MESH:D016109 DO:DOID:3209|OMIM:226700 Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane. MESH:D004820 C16.131.831.493.170|C16.320.850.275.170|C17.800.804.493.170|C17.800.827.275.170|C17.800.865.410.170 C16.131.831.493|C16.320.850.275|C17.800.804.493|C17.800.827.275|C17.800.865.410 Bullosa, Herlitz-Pearson-Type Epidermolysis|Bullosa Letali, Epidermolysis|Bullosa Letalis, Epidermolysis|Disease, Herlitz|Disease, Herlitz's|Epidermolysis Bullosa, Generalized Atrophic Benign|Epidermolysis Bullosa, Herlitz-Pearson-Type|EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE|EPIDERMOLYSIS BULLOSA, JUNCTIONAL, GENERALIZED SEVERE|Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type|Epidermolysis Bullosa, Junctional, Herlitz Type|Epidermolysis Bullosa Junctionalis, Disentis Type|Epidermolysis Bullosa Junctionalis, Herlitz Type|Epidermolysis Bullosa Junctionalis, Progressive|Epidermolysis Bullosa Junctionalis, Severe Nonlethal|Epidermolysis Bullosa Letali|Epidermolysis Bullosa Letalis|Epidermolysis Bullosa Progressiva|Herlitz Disease|Herlitz Pearson Type Epidermolysis Bullosa|Herlitz-Pearson Type Epidermolysis Bullosa|Herlitz-Pearson-Type Epidermolysis Bullosa|Herlitz's Disease|Herlitzs Disease|JEB1B|JEB-HERLITZ TYPE|Junctional Epidermolysis Bullosa|Letali, Epidermolysis Bullosa|Letalis, Epidermolysis Bullosa|Lethal Junctional Epidermolysis Bullosa Congenital abnormality|Genetic disease (inborn)|Skin disease EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME OMIM:614748 MESH:D004820|MESH:D009404|MESH:D017563 C08.381.483/614748|C12.050.351.968.419.630.643/614748|C12.200.777.419.630.643/614748|C12.950.419.630.643/614748|C16.131.831.493/614748|C16.320.850.275/614748|C17.800.804.493/614748|C17.800.827.275/614748|C17.800.865.410/614748 C08.381.483|C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643|C16.131.831.493|C16.320.850.275|C17.800.804.493|C17.800.827.275|C17.800.865.410 ILNEB|INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL|JEB7 Congenital abnormality|Genetic disease (inborn)|Respiratory tract disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) Epidermolysis Bullosa, Junctional, Non-Herlitz Type MESH:C562639 OMIM:226650 MESH:D016109 C16.131.831.493.170/C562639|C16.320.850.275.170/C562639|C17.800.804.493.170/C562639|C17.800.827.275.170/C562639|C17.800.865.410.170/C562639 C16.131.831.493.170|C16.320.850.275.170|C17.800.804.493.170|C17.800.827.275.170|C17.800.865.410.170 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, GENERALIZED INTERMEDIATE|EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE|EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, NON-HERLITZ TYPE|EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE|Epidermolysis Bullosa Junctionalis, Non-Herlitz Type|EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE|EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL|Epidermolysis Bullosa, Junctional, Localisata Variant|JEB1A|JEB-I|JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolysis bullosa, late-onset localized junctional, with mental retardation MESH:C535492 MESH:D000848|MESH:D008607|MESH:D009260|MESH:D016110 C07.650.800.100/C535492|C07.793.700.100/C535492|C10.597.606.360/C535492|C16.131.831.493.180/C535492|C16.131.850.800.100/C535492|C16.320.850.275.180/C535492|C17.800.529/C535492|C17.800.804.493.180/C535492|C17.800.827.275.180/C535492|C17.800.865.410.180/C535492|C23.888.592.604.646/C535492|F03.625.539/C535492 C07.650.800.100|C07.793.700.100|C10.597.606.360|C16.131.831.493.180|C16.131.850.800.100|C16.320.850.275.180|C17.800.529|C17.800.804.493.180|C17.800.827.275.180|C17.800.865.410.180|C23.888.592.604.646|F03.625.539 Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders Congenital abnormality|Genetic disease (inborn)|Mental disorder|Mouth disease|Nervous system disease|Signs and symptoms|Skin disease Epidermolysis bullosa, lethal acantholytic MESH:C535493 OMIM:609638 MESH:D004820 C16.131.831.493/C535493|C16.320.850.275/C535493|C17.800.804.493/C535493|C17.800.827.275/C535493|C17.800.865.410/C535493 C16.131.831.493|C16.320.850.275|C17.800.804.493|C17.800.827.275|C17.800.865.410 EBLA|LAEB|LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolysis bullosa, pretibial MESH:C535494 OMIM:131850 MESH:D016108 C16.131.831.493.160/C535494|C16.320.850.275.160/C535494|C17.300.200.367/C535494|C17.800.804.493.160/C535494|C17.800.827.275.160/C535494|C17.800.865.410.160/C535494 C16.131.831.493.160|C16.320.850.275.160|C17.300.200.367|C17.800.804.493.160|C17.800.827.275.160|C17.800.865.410.160 DEB, PRETIBIAL|Dystrophic Epidermolysis Bullosa, Pretibial|Epidermolysis Bullosa Dystrophica, Pretibial|EPIDERMOLYSIS BULLOSA, PRETIBIAL|Pretibial epidermolysis bullosa Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa Pruriginosa MESH:C563192 OMIM:604129 MESH:D016108 C16.131.831.493.160/C563192|C16.320.850.275.160/C563192|C17.300.200.367/C563192|C17.800.804.493.160/C563192|C17.800.827.275.160/C563192|C17.800.865.410.160/C563192 C16.131.831.493.160|C16.320.850.275.160|C17.300.200.367|C17.800.804.493.160|C17.800.827.275.160|C17.800.865.410.160 DEB, PRURIGINOSA|Dystrophic Epidermolysis Bullosa Pruriginosa Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa Simplex MESH:D016110 DO:DOID:4644|OMIM:131760|OMIM:131800|OMIM:131900 A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex. MESH:D004820 C16.131.831.493.180|C16.320.850.275.180|C17.800.804.493.180|C17.800.827.275.180|C17.800.865.410.180 C16.131.831.493|C16.320.850.275|C17.800.804.493|C17.800.827.275|C17.800.865.410 Acral Form EBS|Acral Form EBSs|Bullosa Simplices, Epidermolysis|EBS1A|EBS1B|EBS1C|EBS, Acral Form|EBS-DM|EBSDM|EBS, Generalized|EBSs, Acral Form|EBSs, Generalized|Epidermolysis Bullosa Herpetiformis Dowling Meara|Epidermolysis Bullosa Herpetiformis Dowling-Meara|Epidermolysis Bullosa Herpetiformis, Dowling Meara|Epidermolysis Bullosa Herpetiformis, Dowling-Meara|Epidermolysis Bullosa Herpetiformis, Dowling Meara Type|Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type|Epidermolysis Bullosa of Hands and Feet|EPIDERMOLYSIS BULLOSA SIMPLEX 1A, DOWLING-MEARA TYPE|EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE|EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE|EPIDERMOLYSIS BULLOSA SIMPLEX 1B, KOEBNER TYPE|EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED|EPIDERMOLYSIS BULLOSA SIMPLEX 1C, WEBER-COCKAYNE TYPE|Epidermolysis Bullosa Simplex, Cockayne Touraine Type|Epidermolysis Bullosa Simplex, Cockayne-Touraine Type|Epidermolysis Bullosa Simplex, Dowling Meara Type|Epidermolysis Bullosa Simplex, Dowling-Meara Type|Epidermolysis Bullosa Simplex, Generalized|Epidermolysis Bullosa Simplex Kobner|Epidermolysis Bullosa Simplex, Koebner Type|Epidermolysis Bullosa Simplex, Localized|Epidermolysis Bullosa Simplex, Weber Cockayne Type|Epidermolysis Bullosa Simplex, Weber-Cockayne Type|Epidermolysis Bullosa Simplices|Generalized EBS|Generalized EBSs|Weber Cockayne Syndrome|Weber-Cockayne Syndrome|Weber Cockayne Type Epidermolysis Bullosa Simplex|Weber-Cockayne Type Epidermolysis Bullosa Simplex Congenital abnormality|Genetic disease (inborn)|Skin disease EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE OMIM:616487 MESH:D009260|MESH:D016110 C16.131.831.493.180/616487|C16.320.850.275.180/616487|C17.800.529/616487|C17.800.804.493.180/616487|C17.800.827.275.180/616487|C17.800.865.410.180/616487 C16.131.831.493.180|C16.320.850.275.180|C17.800.529|C17.800.804.493.180|C17.800.827.275.180|C17.800.865.410.180 EBS5D|EBSND|EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY|EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY Congenital abnormality|Genetic disease (inborn)|Skin disease EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH OR WITHOUT CARDIOMYOPATHY OMIM:617294 MESH:D016110 C16.131.831.493.180/617294|C16.320.850.275.180/617294|C17.800.804.493.180/617294|C17.800.827.275.180/617294|C17.800.865.410.180/617294 C16.131.831.493.180|C16.320.850.275.180|C17.800.804.493.180|C17.800.827.275.180|C17.800.865.410.180 EBS6|EBSSH|EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH SCARRING AND HAIR LOSS, WITH OR WITHOUT DILATED CARDIOMYOPATHY|EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa Simplex, Autosomal Recessive MESH:C563408 OMIM:601001|OMIM:615425 MESH:D016110 C16.131.831.493.180/C563408|C16.320.850.275.180/C563408|C17.800.804.493.180/C563408|C17.800.827.275.180/C563408|C17.800.865.410.180/C563408 C16.131.831.493.180|C16.320.850.275.180|C17.800.804.493.180|C17.800.827.275.180|C17.800.865.410.180 EBS1D|EBS3|EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE|EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolysis bullosa simplex, Ogna type MESH:C535962 OMIM:131950 MESH:D016110 C16.131.831.493.180/C535962|C16.320.850.275.180/C535962|C17.800.804.493.180/C535962|C17.800.827.275.180/C535962|C17.800.865.410.180/C535962 C16.131.831.493.180|C16.320.850.275.180|C17.800.804.493.180|C17.800.827.275.180|C17.800.865.410.180 EBS5A|Ebs-Og|EBSOG|Epidermolysis bullosa simplex 1|EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE|EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa Simplex Superficialis MESH:C564368 MESH:D016110 C16.131.831.493.180/C564368|C16.320.850.275.180/C564368|C17.800.804.493.180/C564368|C17.800.827.275.180/C564368|C17.800.865.410.180/C564368 C16.131.831.493.180|C16.320.850.275.180|C17.800.804.493.180|C17.800.827.275.180|C17.800.865.410.180 Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa Simplex with Migratory Circinate Erythema MESH:C563730 OMIM:609352 MESH:D004890|MESH:D016110 C16.131.831.493.180/C563730|C16.320.850.275.180/C563730|C17.800.229/C563730|C17.800.804.493.180/C563730|C17.800.827.275.180/C563730|C17.800.865.410.180/C563730|C23.888.885.328/C563730 C16.131.831.493.180|C16.320.850.275.180|C17.800.229|C17.800.804.493.180|C17.800.827.275.180|C17.800.865.410.180|C23.888.885.328 EBS2E|EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA|EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA Congenital abnormality|Genetic disease (inborn)|Signs and symptoms|Skin disease Epidermolysis bullosa simplex with mottled pigmentation MESH:C535959 DO:DOID:0111346|OMIM:131960 MESH:D016110 C16.131.831.493.180/C535959|C16.320.850.275.180/C535959|C17.800.804.493.180/C535959|C17.800.827.275.180/C535959|C17.800.865.410.180/C535959 C16.131.831.493.180|C16.320.850.275.180|C17.800.804.493.180|C17.800.827.275.180|C17.800.865.410.180 EBS2F|EBSMP|EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION|EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION|Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering|Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa Simplex With Pyloric Atresia MESH:C567408 OMIM:612138 MESH:D016110 C16.131.831.493.180/C567408|C16.320.850.275.180/C567408|C17.800.804.493.180/C567408|C17.800.827.275.180/C567408|C17.800.865.410.180/C567408 C16.131.831.493.180|C16.320.850.275.180|C17.800.804.493.180|C17.800.827.275.180|C17.800.865.410.180 EBS5C|Ebs-Pa|EBSPA|Ebs With Pyloric Atresia|EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA|EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails MESH:C562638 DO:DOID:0111347|OMIM:132000 MESH:D016108 C16.131.831.493.160/C562638|C16.320.850.275.160/C562638|C17.300.200.367/C562638|C17.800.804.493.160/C562638|C17.800.827.275.160/C562638|C17.800.865.410.160/C562638 C16.131.831.493.160|C16.320.850.275.160|C17.300.200.367|C17.800.804.493.160|C17.800.827.275.160|C17.800.865.410.160 Epidermolysis Bullosa Dystrophica, Bart Type Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase MESH:C565049 MESH:D004820 C16.131.831.493/C565049|C16.320.850.275/C565049|C17.800.804.493/C565049|C17.800.827.275/C565049|C17.800.865.410/C565049 C16.131.831.493|C16.320.850.275|C17.800.804.493|C17.800.827.275|C17.800.865.410 Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolysis Bullosa With Diaphragmatic Hernia MESH:C565588 MESH:D004820|MESH:D065630 C16.131.433/C565588|C16.131.831.493/C565588|C16.320.850.275/C565588|C17.800.804.493/C565588|C17.800.827.275/C565588|C17.800.865.410/C565588|C23.300.707.960.500.116/C565588 C16.131.433|C16.131.831.493|C16.320.850.275|C17.800.804.493|C17.800.827.275|C17.800.865.410|C23.300.707.960.500.116 Congenital abnormality|Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease Epidermolysis bullosa with pyloric atresia MESH:C535377 OMIM:226730 MESH:D004476 C16.131.077.350/C535377|C16.131.831.350/C535377|C16.320.850.250/C535377|C17.800.804.350/C535377|C17.800.827.250/C535377 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Aplasia cutis congenita with gastrointestinal atresia|Carmi syndrome|Eb-Pa|EB-PA-ACC|EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA|Epidermolysis Bullosa Junctionalis With Pyloric Atresia|Epidermolysis Bullosa, Junctional, With Pyloric Atresia|EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA AND APLASIA CUTIS CONGENITA|Epidermylosis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita|JEB5B|JEB-PA|Junctional Epidermolysis Bullosa With Pyloric Atresia|Pa-Jeb Congenital abnormality|Genetic disease (inborn)|Skin disease Epidermolytic Hyperkeratosis, Late-Onset MESH:C566187 MESH:D017488 C16.131.831.512.400.375/C566187|C16.320.850.400.375/C566187|C16.614.492.400.375/C566187|C17.800.428.333.250.375/C566187|C17.800.804.512.400.375/C566187|C17.800.827.400.375/C566187 C16.131.831.512.400.375|C16.320.850.400.375|C16.614.492.400.375|C17.800.428.333.250.375|C17.800.804.512.400.375|C17.800.827.400.375 Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Epididymitis MESH:D004823 DO:DOID:9402 Inflammation of the EPIDIDYMIS. Its clinical features include enlarged epididymis, a swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD. MESH:D005832 C12.100.500.199|C12.200.294.199 C12.100.500|C12.200.294 Epididymitides Urogenital disease (male) Epidural Abscess MESH:D020802 DO:DOID:11387 Circumscribed collections of suppurative material occurring in the spinal or intracranial EPIDURAL SPACE. The majority of epidural abscesses occur in the spinal canal and are associated with OSTEOMYELITIS of a vertebral body; ANALGESIA, EPIDURAL; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, URINARY INCONTINENCE, and FECAL INCONTINENCE. Cranial epidural abscesses are usually associated with OSTEOMYELITIS of a cranial bone, SINUSITIS, or OTITIS MEDIA. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12) MESH:D000038|MESH:D002494|MESH:D020819 C01.207.709.350|C01.830.025.325|C10.228.228.300|C10.228.228.709.350 C01.207.709|C01.830.025|C10.228.228|C10.228.228.709 Abscess, Cranial Epidural|Abscess, Cranial Extradural|Abscess, Epidural|Abscesses, Intracranial Extradural|Abscess, Extradural|Abscess, Intracranial Epidural|Abscess, Intracranial Extradural|Abscess, Spinal Epidural|Abscess, Spinal Extradural|Cranial Epidural Abscess|Cranial Extradural Abscess|Epidural Abscess, Cranial|Epidural Abscess, Intracranial|Epidural Abscess, Spinal|Extradural Abscess|Extradural Abscesses, Intracranial|Extradural Abscess, Intracranial|Extradural Abscess, Spinal|Intracranial Epidural Abscess|Intracranial Extradural Abscess|Intracranial Extradural Abscesses|Spinal Epidural Abscess|Spinal Extradural Abscess Nervous system disease Epidural Neoplasms MESH:D015174 DO:DOID:3618 Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord. MESH:D013120 C04.588.614.250.803.342|C10.228.854.765.342|C10.551.240.750.200 C04.588.614.250.803|C10.228.854.765|C10.551.240.750 Epidural Neoplasm|Epidural Neoplasm, Malignant|Epidural Neoplasms, Malignant|Epidural Tumor|Epidural Tumors|Malignant Epidural Neoplasm|Malignant Epidural Neoplasms|Neoplasms, Epidural Cancer|Nervous system disease Epiglottitis MESH:D004826 DO:DOID:9398 Inflammation of the EPIGLOTTIS. MESH:D059525 C01.748.798.200|C08.730.798.200 C01.748.798|C08.730.798 Epiglottitides Respiratory tract disease Epilepsia Partialis Continua MESH:D017036 A variant of EPILEPSY characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319) MESH:D013226 C10.597.742.785.260|C23.888.592.742.785.260 C10.597.742.785|C23.888.592.742.785 Chronic Progressive Epilepsia Partialis Continua|Epilepsia Partialis Continua, Chronic Progressive|Epilepsies, Kojevnikov's|Epilepsy, Kojevnikov's|Epilepsy, Kojewnikov's|Kojevnikov Epilepsy|Kojevnikov's Epilepsies|Kojevnikov's Epilepsy|Kojewnikov Epilepsy|Kojewnikov's Epilepsy|Kojewnikow's Syndrome|Kojewnikow Syndrome|Kozhevnikov's Syndrome|Kozhevnikov Syndrome|Kozhevnikow Syndrome, Progressive Variant|Progressive Variant of Kozhevnikow Syndrome Nervous system disease|Signs and symptoms Epilepsies, Myoclonic MESH:D004831 DO:DOID:308|OMIM:607208 A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic. MESH:D000073376|MESH:D004829 C10.228.140.490.375.130|C10.228.140.490.493.063 C10.228.140.490.375|C10.228.140.490.493 Astatic Epilepsies, Myoclonic|Astatic Epilepsy, Myoclonic|Benign Infantile Myoclonic Epilepsy|Cryptogenic Myoclonic Epilepsies|Cryptogenic Myoclonic Epilepsy|DEE6A|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A|Doose Syndrome|Dravet Syndrome|Dravet Syndromes|DRVT|Early Childhood Epilepsy, Myoclonic|Early Childhood, Myoclonic Epilepsy|EIEE6|Encephalopathies, Myoclonic|Encephalopathy, Myoclonic|Epilepsies, Cryptogenic Myoclonic|Epilepsies, Idiopathic Myoclonic|Epilepsies, Infantile Myoclonic|Epilepsies, Myoclonic Absence|Epilepsies, Myoclonic Astatic|Epilepsies, Symptomatic Myoclonic|Epilepsy, Cryptogenic Myoclonic|Epilepsy, Early Childhood, Myoclonic|Epilepsy, Idiopathic Myoclonic|Epilepsy, Infantile Myoclonic|Epilepsy, Myoclonic|Epilepsy, Myoclonic Absence|Epilepsy, Myoclonic Astatic|Epilepsy, Myoclonic, Early Childhood|Epilepsy, Myoclonic, Infantile|Epilepsy, Myoclonic, Infantile, Benign|Epilepsy, Myoclonic, Infantile, Severe|Epilepsy, Myoclonus|Epilepsy, Symptomatic Myoclonic|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6|Idiopathic Myoclonic Epilepsies|Idiopathic Myoclonic Epilepsy|Infantile Myoclonic Epilepsies|Infantile Myoclonic Epilepsy|Infantile Severe Myoclonic Epilepsy|Myoclonic Absence Epilepsies|Myoclonic Absence Epilepsy|Myoclonic Astatic Epilepsies|Myoclonic Astatic Epilepsy|Myoclonic Encephalopathies|Myoclonic Encephalopathy|Myoclonic Epilepsies|Myoclonic Epilepsies, Cryptogenic|Myoclonic Epilepsies, Idiopathic|Myoclonic Epilepsies, Infantile|Myoclonic Epilepsies, Symptomatic|Myoclonic Epilepsy|Myoclonic Epilepsy, Benign Infantile|Myoclonic Epilepsy, Cryptogenic|Myoclonic Epilepsy, Early Childhood|Myoclonic Epilepsy, Idiopathic|Myoclonic Epilepsy, Infantile|Myoclonic Epilepsy, Infantile, Benign|Myoclonic Epilepsy, Infantile, Severe|Myoclonic Epilepsy, Severe Infantile|Myoclonic Epilepsy, Severe, Of Infancy|Myoclonic Epilepsy, Symptomatic|Myoclonic Seizure Disorder|Myoclonic Seizure Disorders|Myoclonus Epilepsies|Myoclonus Epilepsy|Seizure Disorder, Myoclonic|Seizure Disorders, Myoclonic|Severe Infantile Myoclonic Epilepsy|Severe Myoclonic Epilepsy, Infantile|Severe Myoclonic Epilepsy Of Infancy|SMEI|Symptomatic Myoclonic Epilepsies|Symptomatic Myoclonic Epilepsy Nervous system disease Epilepsies, Partial MESH:D004828 DO:DOID:2234 Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317) MESH:D004827 C10.228.140.490.360 C10.228.140.490 Abdominal Epilepsies|Abdominal Epilepsy|Amygdalo-Hippocampal Epilepsies|Amygdalo-Hippocampal Epilepsy|Benign Focal Epilepsy, Childhood|Benign Occipital Epilepsies|Benign Occipital Epilepsy|Benign Occipital Epilepsy, Childhood|Childhood Benign Focal Epilepsy|Childhood Benign Occipital Epilepsy|Digestive Epilepsies|Digestive Epilepsy|Disorders, Focal Seizure|Disorders, Partial Seizure|Epilepsies, Abdominal|Epilepsies, Amygdalo-Hippocampal|Epilepsies, Benign Occipital|Epilepsies, Digestive|Epilepsies, Focal|Epilepsies, Gelastic|Epilepsies, Localization-Related|Epilepsies, Occipital Lobe|Epilepsies, Rhinencephalic|Epilepsies, Simple Partial|Epilepsy, Abdominal|Epilepsy, Benign Occipital|Epilepsy, Focal|Epilepsy, Localization-Related|Epilepsy, Partial|Epilepsy, Simple Partial|Focal Epilepsies|Focal Epilepsy|Focal Seizure Disorder|Focal Seizure Disorders|Gelastic Epilepsies|Gelastic Epilepsy|Lobe Epilepsy, Occipital|Localization-Related Epilepsies|Localization-Related Epilepsy|Occipital Epilepsies, Benign|Occipital Epilepsy, Benign|Occipital Lobe Epilepsies|Occipital Lobe Epilepsy|Panayiotopoulos Syndrome|Partial Epilepsies|Partial Epilepsies, Simple|Partial Epilepsy|Partial Seizure Disorder|Partial Seizure Disorders|Partial Seizures, Simple|Partial Seizures, Simple, Consciousness Preserved|Rhinencephalic Epilepsies|Rhinencephalic Epilepsy|Seizure Disorder, Focal|Seizure Disorder, Partial|Seizure Disorders, Focal|Seizure Disorders, Partial|Seizures, Simple Partial|Seizures, Subclinical|Seizure, Subclinical|Seizures, Uncinate|Seizure, Uncinate|Simple Partial Epilepsies|Simple Partial Seizures|Subclinical Seizure|Subclinical Seizures|Uncinate Seizure|Uncinate Seizures Nervous system disease Epilepsy MESH:D004827 DO:DOID:1826 A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313) MESH:D001927 C10.228.140.490 C10.228.140 Aura|Auras|Awakening Epilepsy|Cryptogenic Epilepsies|Cryptogenic Epilepsy|Epilepsies|Epilepsies, Cryptogenic|Epilepsy, Awakening|Epilepsy, Cryptogenic|Seizure Disorder|Seizure Disorders Nervous system disease Epilepsy, Absence MESH:D004832 DO:DOID:0070309|DO:DOID:1825|OMIM:600131|OMIM:607631|OMIM:611942|OMIM:612269 A seizure disorder usually occurring in childhood characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736) MESH:D000073376|MESH:D004829 C10.228.140.490.375.260|C10.228.140.490.493.125 C10.228.140.490.375|C10.228.140.490.493 Absence Epilepsy|Absence Epilepsy, Childhood|Absence Epilepsy, Juvenile|Absence Seizure Disorder|Absence Seizure Disorders|Akinetic Petit Mal|Childhood Absence Epilepsy|ECA1|ECA5|ECA6|EIG6, INCLUDED|EJA1|Epilepsy, Absence, Atypical|Epilepsy, Childhood Absence|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6, INCLUDED|Epilepsy Juvenile Absence|Epilepsy, Juvenile Absence|EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1|Epilepsy, Minor|Epilepsy, Petit Mal|JAE1|Juvenile Absence Epilepsy|Minor Epilepsy|Petit Mal, Akinetic|Petit Mal Epilepsy|Pykno Epilepsy|Pykno-Epilepsy|Pyknolepsies|Pyknolepsy|Seizure Disorder, Absence|Seizure Disorders, Absence Nervous system disease Epilepsy, Benign Neonatal MESH:D020936 DO:DOID:14264|DO:DOID:14777|OMIM:601764 A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5) MESH:D004827|MESH:D007232 C10.228.140.490.370|C16.614.258 C10.228.140.490|C16.614 Benign Familial Infantile Convulsions|Benign Familial Infantile Convulsions Syndrome|Benign Familial Neonatal Convulsions|Benign Familial Neonatal Epilepsy|Benign Familial Neonatal Infantile Seizures|Benign Familial Neonatal-Infantile Seizures|Benign Infantile Familial Convulsions|Benign Neonatal Convulsion|Benign Neonatal Convulsions|Benign Neonatal Epilepsies|Benign Neonatal Epilepsy|Benign Neonatal Epilepsy, Nonfamilial|Benign Neonatal-Infantile Epilepsies|Benign Neonatal-Infantile Epilepsy|Benign Neonatal Non Familial Convulsions|Benign Neonatal Non-Familial Convulsions|Benign Neonatal Nonfamilial Epilepsy|Benign Non Familial Neonatal Convulsions|Benign Non-Familial Neonatal Convulsions|BFIC1|BFIS1|Convulsion, Benign Neonatal|Convulsions, Benign Familial Infantile, 1|Convulsions, Benign Familial Infantile, 3|Convulsions Benign Familial Neonatal|Convulsions, Benign Neonatal|Convulsions, Benign Neonatal, Familial|Convulsions, Benign Neonatal, Non-Familial|Epilepsies, Benign Neonatal|Epilepsies, Benign Neonatal-Infantile|Epilepsy, Benign Neonatal, Familial|Epilepsy, Benign Neonatal Infantile|Epilepsy, Benign Neonatal-Infantile|Epilepsy, Benign Neonatal, Nonfamilial|Epilepsy, Benign Neonatal, Non-Familial|Familial Benign Neonatal Convulsions|Familial Benign Neonatal Epilepsy|Neonatal Convulsion, Benign|Neonatal Convulsions, Benign|Neonatal Epilepsies, Benign|Neonatal Epilepsy, Benign|Neonatal-Infantile Epilepsies, Benign|Neonatal-Infantile Epilepsy, Benign|Non Familial Benign Neonatal Convulsions|Non-Familial Benign Neonatal Convulsions|Non Familial Benign Neonatal Epilepsy|Non-Familial Benign Neonatal Epilepsy|Seizures, Benign Familial Infantile, 1|Seizures, Benign Familial Infantile, 3|Seizures, Benign Familial Neonatal Infantile|Seizures, Benign Familial Neonatal-Infantile Infant-newborn disease|Nervous system disease Epilepsy, Benign Neonatal, 1 MESH:C565164 MESH:D020936 C10.228.140.490.370/C565164|C16.614.258/C565164 C10.228.140.490.370|C16.614.258 Convulsions, Benign Familial Neonatal, 1 Infant-newborn disease|Nervous system disease Epilepsy, Benign Neonatal, 1, And-Or Myokymia MESH:C567743 MESH:D004827|MESH:D020385 C10.228.140.490/C567743|C10.597.613.650/C567743|C23.888.592.608.650/C567743 C10.228.140.490|C10.597.613.650|C23.888.592.608.650 Nervous system disease|Signs and symptoms Epilepsy, Benign Neonatal, 1, Atypical Severe MESH:C567745 MESH:D020936 C10.228.140.490.370/C567745|C16.614.258/C567745 C10.228.140.490.370|C16.614.258 Infant-newborn disease|Nervous system disease Epilepsy, Benign Neonatal, 3 MESH:C564274 OMIM:607745 MESH:D020936 C10.228.140.490.370/C564274|C16.614.258/C564274 C10.228.140.490.370|C16.614.258 BFIC3|BFIS3|BFNIS|CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3|Convulsions, Benign Familial Neonatal, 3|SEIZURES, BENIGN FAMILIAL INFANTILE, 3|SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE Infant-newborn disease|Nervous system disease Epilepsy, Benign Neonatal, Autosomal Recessive MESH:C564823 MESH:D020936 C10.228.140.490.370/C564823|C16.614.258/C564823 C10.228.140.490.370|C16.614.258 Convulsions, Benign Familial Neonatal, Autosomal Recessive|Seizures, Benign Familial Neonatal, Autosomal Recessive Infant-newborn disease|Nervous system disease Epilepsy, Childhood Absence, Susceptibility To, 4 MESH:C567002 MESH:D004832 C10.228.140.490.375.260/C567002|C10.228.140.490.493.125/C567002 C10.228.140.490.375.260|C10.228.140.490.493.125 Nervous system disease Epilepsy, Complex Partial MESH:D017029 DO:DOID:12382 A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8) MESH:D004828 C10.228.140.490.360.260 C10.228.140.490.360 Complex Partial Epilepsy|Complex Partial Seizure Disorder|Cryptogenic Partial Complex Epilepsy|Disorder, Complex Partial Seizures|Epilepsy, Cryptogenic, Partial Complex|Epilepsy, Psychic Equivalent|Epilepsy, Psychomotor|Epilepsy, Symptomatic, Partial Complex|Partial Complex Epilepsy, Cryptogenic|Partial Complex Epilepsy, Symptomatic|Partial Epilepsy, Complex|Psychic Equivalent Epilepsy|Psychomotor Epilepsy|Seizure Disorder, Complex Partial|Symptomatic Partial Complex Epilepsy Nervous system disease Epilepsy, Familial Adult Myoclonic, 3 MESH:C567098 OMIM:613608 MESH:D004831 C10.228.140.490.375.130/C567098|C10.228.140.490.493.063/C567098 C10.228.140.490.375.130|C10.228.140.490.493.063 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3|FAME3|FCMTE3 Nervous system disease EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 OMIM:615400 DO:DOID:0111691 MESH:D004831 C10.228.140.490.375.130/615400|C10.228.140.490.493.063/615400 C10.228.140.490.375.130|C10.228.140.490.493.063 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 5|FAME5|FCMTE5 Nervous system disease Epilepsy, Familial Mesial Temporal Lobe MESH:C566903 MESH:D004833 C10.228.140.490.360.290/C566903|C10.228.140.490.493.375/C566903 C10.228.140.490.360.290|C10.228.140.490.493.375 Nervous system disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 OMIM:600512 DO:DOID:0060748 MESH:D004833 C10.228.140.490.360.290/600512|C10.228.140.490.493.375/600512 C10.228.140.490.360.290|C10.228.140.490.493.375 ADLTE|ADPEAF|EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT|EPILEPSY, PARTIAL, WITH AUDITORY FEATURES|ETL1 Nervous system disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 OMIM:608096 DO:DOID:0060755 MESH:D004833 C10.228.140.490.360.290/608096|C10.228.140.490.493.375/608096 C10.228.140.490.360.290|C10.228.140.490.493.375 ETL2|FTLE Nervous system disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 3 OMIM:611630 DO:DOID:0060750 MESH:D004833 C10.228.140.490.360.290/611630|C10.228.140.490.493.375/611630 C10.228.140.490.360.290|C10.228.140.490.493.375 EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE|ETL3|FMTLE Nervous system disease Epilepsy, Familial Temporal Lobe, 4 MESH:C566902 OMIM:611631 MESH:D004833 C10.228.140.490.360.290/C566902|C10.228.140.490.493.375/C566902 C10.228.140.490.360.290|C10.228.140.490.493.375 Epilepsy, Occipitotemporal Lobe, And Migraine With Aura|EPOLM|ETL4 Nervous system disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 OMIM:614417 DO:DOID:0060752 MESH:D004833 C10.228.140.490.360.290/614417|C10.228.140.490.493.375/614417 C10.228.140.490.360.290|C10.228.140.490.493.375 ETL5 Nervous system disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 OMIM:616436 DO:DOID:0060751 MESH:D004833 C10.228.140.490.360.290/616436|C10.228.140.490.493.375/616436 C10.228.140.490.360.290|C10.228.140.490.493.375 ETL7 Nervous system disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 OMIM:616461 DO:DOID:0060754 MESH:D004833 C10.228.140.490.360.290/616461|C10.228.140.490.493.375/616461 C10.228.140.490.360.290|C10.228.140.490.493.375 ETL8 Nervous system disease Epilepsy, Female-Restricted, with Mental Retardation MESH:C564715 OMIM:300088 MESH:D004827|MESH:D008607|MESH:D040181 C10.228.140.490/C564715|C10.597.606.360/C564715|C16.320.322/C564715|C23.888.592.604.646/C564715|F03.625.539/C564715 C10.228.140.490|C10.597.606.360|C16.320.322|C23.888.592.604.646|F03.625.539 Convulsive Disorder and Mental Retardation|DEE9|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9|EFMR|EIEE9|EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9|JUBERG-HELLMAN SYNDROME Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT OMIM:245570 DO:DOID:2538 MESH:D004827|MESH:D008607|MESH:D013064 C10.228.140.490/245570|C10.597.606.150.500.800/245570|C10.597.606.360/245570|C23.888.592.604.150.500.800/245570|C23.888.592.604.646/245570|F03.625.539/245570 C10.228.140.490|C10.597.606.150.500.800|C10.597.606.360|C23.888.592.604.150.500.800|C23.888.592.604.646|F03.625.539 ADRESD, INCLUDED|APHASIA, ACQUIRED, WITH EPILEPSY LANDAU-KLEFFNER SYNDROME, INCLUDED|CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME, INCLUDED|CSWS, INCLUDED|CSWSS, INCLUDED|EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION|FESD|LKS, INCLUDED|RESDAD, INCLUDED|ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT, INCLUDED Mental disorder|Nervous system disease|Signs and symptoms Epilepsy, Frontal Lobe MESH:D017034 DO:DOID:3331 A localization-related (focal) form of epilepsy characterized by seizures which arise in the FRONTAL LOBE. MESH:D000073376|MESH:D004828 C10.228.140.490.360.270|C10.228.140.490.493.188 C10.228.140.490.360|C10.228.140.490.493 Anterior Fronto-Polar Epilepsies|Anterior Fronto-Polar Epilepsy|Benign Frontal Childhood Epilepsy|Childhood Benign Frontal Epilepsy|Cingulate Epilepsies|Cingulate Epilepsy|Epilepsies, Anterior Fronto-Polar|Epilepsies, Cingulate|Epilepsies, Orbito-Frontal|Epilepsies, Supplementary Motor|Epilepsy, Anterior Fronto Polar|Epilepsy, Anterior Fronto-Polar|Epilepsy, Benign Frontal, Childhood|Epilepsy, Cingulate|Epilepsy, Opercular|Epilepsy, Orbito Frontal|Epilepsy, Orbito-Frontal|Epilepsy, Supplementary Motor|Frontal Epilepsy, Benign, Childhood|Frontal Lobe Epilepsies|Frontal Lobe Epilepsy|Opercular Epilepsies|Opercular Epilepsy|Orbito-Frontal Epilepsies|Orbito-Frontal Epilepsy|Supplementary Motor Epilepsies|Supplementary Motor Epilepsy Nervous system disease Epilepsy, Generalized MESH:D004829 DO:DOID:1827 Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14) MESH:D004827 C10.228.140.490.375 C10.228.140.490 Akinetic Epilepsies|Akinetic Epilepsy|Atonic Epilepsies|Atonic Epilepsy|Convulsive Epilepsies, Generalized|Convulsive Epilepsy, Generalized|Convulsive Generalized Seizure Disorder|Convulsive Seizure Disorder, Generalized|Epilepsies, Akinetic|Epilepsies, Atonic|Epilepsies, Generalized|Epilepsies, Generalized Convulsive|Epilepsies, Tonic|Epilepsy, Akinetic|Epilepsy, Atonic|Epilepsy, Generalized Convulsive|Epilepsy, Generalized Nonconvulsive|Epilepsy, Symptomatic Generalized|Epilepsy, Tonic|Generalized Convulsive Epilepsies|Generalized Convulsive Epilepsy|Generalized Epilepsies|Generalized Epilepsy|Generalized Epilepsy, Symptomatic|Generalized Nonconvulsive Epilepsy|Generalized Nonconvulsive Seizure Disorder|Generalized Onset Seizure Disorder|Generalized Seizure Disorder|Generalized Seizure Disorder, Convulsive|Generalized Seizure Disorder, Nonconvulsive|Generalized Seizure Disorders|Nonconvulsive Epilepsy, Generalized|Nonconvulsive Generalized Seizure Disorder|Nonconvulsive Seizure Disorder, Generalized|Seizure Disorder, Convulsive, Generalized|Seizure Disorder, Generalized|Seizure Disorder, Generalized, Convulsive|Seizure Disorder, Generalized Nonconvulsive|Seizure Disorder, Generalized Onset|Seizure Disorder, Nonconvulsive Generalized|Seizure Disorders, Generalized|Symptomatic Generalized Epilepsy|Tonic Epilepsies|Tonic Epilepsy Nervous system disease EPILEPSY, HOT WATER, 1 OMIM:613339 DO:DOID:0081106 MESH:D004827 C10.228.140.490/613339 C10.228.140.490 HWE1 Nervous system disease EPILEPSY, HOT WATER, 2 OMIM:613340 DO:DOID:0081107 MESH:D004827 C10.228.140.490/613340 C10.228.140.490 HWE2 Nervous system disease Epilepsy, Idiopathic Generalized MESH:C562694 OMIM:600669|OMIM:606972|OMIM:607628|OMIM:607682|OMIM:608762|OMIM:609750|OMIM:611934|OMIM:612899|OMIM:613060|OMIM:616685 MESH:D004829 C10.228.140.490.375/C562694 C10.228.140.490.375 EIG|EIG11|EIG14|EIG1, INCLUDED|EIG2|EIG3|EIG4|EIG5|EIG8|EIG9|EJA2, INCLUDED|EJM6,|EJM6, INCLUDED|EJM7, INCLUDED|EJM8,|EJM8, INCLUDED|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10;EIG10 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5,|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 2|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 4|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 10|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 14|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 8, INCLUDED|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 9|EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED|EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6, INCLUDED|EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7, INCLUDED|EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8, INCLUDED|GEFS5, INCLUDED|GEFS+5, SUSCEPTIBILITY TO, INCLUDED|GEFSP5, SUSCEPTIBILITY TO, INCLUDED|GEFS+, TYPE 5, SUSCEPTIBILITY TO, INCLUDED|Idiopathic Generalized Epilepsy|IDIOPATHIC GENERALIZED EPILEPSY;IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1, INCLUDED|SUSCEPTIBILITY TO, INCLUDED Nervous system disease Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures MESH:C564607 MESH:D004830 C10.228.140.490.375.290/C564607 C10.228.140.490.375.290 ICEGTC Nervous system disease Epilepsy, Myoclonic, Benign Adult Familial, Type 1 MESH:C563399 OMIM:601068 MESH:D004831 C10.228.140.490.375.130/C563399|C10.228.140.490.493.063/C563399 C10.228.140.490.375.130|C10.228.140.490.493.063 BAFME1|Benign Adult Familial Myoclonic Epilepsy 1|Cortical Myoclonic Tremor With Epilepsy, Familial|CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 1|Cortical Tremor, Familial|Epilepsy, Familial Adult Myoclonic, 1|FAME1|FCMTE1 Nervous system disease Epilepsy, Myoclonic, Benign Adult Familial, Type 2 MESH:C564313 OMIM:607876 MESH:D004831 C10.228.140.490.375.130/C564313|C10.228.140.490.493.063/C564313 C10.228.140.490.375.130|C10.228.140.490.493.063 ADCME|BAFME2|Benign Adult Familial Myoclonic Epilepsy 2|CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 2|Cortical Myoclonus And Epilepsy, Autosomal Dominant|Epilepsy, Familial Adult Myoclonic 2|EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2|FAME2|FCMTE2 Nervous system disease EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 OMIM:615005 DO:DOID:0060686 MESH:D017034 C10.228.140.490.360.270/615005|C10.228.140.490.493.188/615005 C10.228.140.490.360.270|C10.228.140.490.493.188 ENFL5 Nervous system disease Epilepsy, Nocturnal Frontal Lobe, Type 1 MESH:C563930 OMIM:600513 MESH:D017034 C10.228.140.490.360.270/C563930|C10.228.140.490.493.188/C563930 C10.228.140.490.360.270|C10.228.140.490.493.188 ENFL1|EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 Nervous system disease Epilepsy, Nocturnal Frontal Lobe, Type 2 MESH:C566400 OMIM:603204 MESH:D017034 C10.228.140.490.360.270/C566400|C10.228.140.490.493.188/C566400 C10.228.140.490.360.270|C10.228.140.490.493.188 ENFL2|EPILEPSY, NOCTURNAL FRONTAL LOBE, 2 Nervous system disease Epilepsy, Nocturnal Frontal Lobe, Type 3 MESH:C565334 OMIM:605375 MESH:D017034 C10.228.140.490.360.270/C565334|C10.228.140.490.493.188/C565334 C10.228.140.490.360.270|C10.228.140.490.493.188 ENFL3|EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 Nervous system disease Epilepsy, Nocturnal Frontal Lobe, Type 4 MESH:C563679 OMIM:610353 MESH:D013009|MESH:D017034 C10.228.140.490.360.270/C563679|C10.228.140.490.493.188/C563679|C10.886.659.635.700/C563679|F03.870.664.635.700/C563679 C10.228.140.490.360.270|C10.228.140.490.493.188|C10.886.659.635.700|F03.870.664.635.700 BFIC6, INCLUDED|BFIS6, INCLUDED|CONVULSIONS, BENIGN FAMILIAL INFANTILE, 6, INCLUDED|ENFL4|Epilepsy, Familial, with Nocturnal Wandering and Ictal Fear|EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR SEIZURES, BENIGN FAMILIAL INFANTILE, 6, INCLUDED|EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 Mental disorder|Nervous system disease Epilepsy occipital calcifications MESH:C535496 MESH:D002114|MESH:D004827 C10.228.140.490/C535496|C18.452.174.130/C535496 C10.228.140.490|C18.452.174.130 Bilateral occipital calcifications with epilepsy|Epilepsy with bilateral occipital calcifications|Familial unilateral and bilateral occipital calcifications and epilepsy Metabolic disease|Nervous system disease Epilepsy, Partial, Motor MESH:D020938 DO:DOID:3327 A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur. MESH:D004828 C10.228.140.490.360.272 C10.228.140.490.360 Clonic Seizures, Focal|Epilepsy, Focal Motor|Epilepsy, Hemimotor|Epilepsy, Motor Partial|Focal Clonic Seizure|Focal Clonic Seizures|Focal Motor Epilepsy|Focal Tonic Seizure|Focal Tonic Seizures|Hemimotor Epilepsies|Hemimotor Epilepsy|Hemimotor Seizure Disorder|Hemimotor Seizure Disorders|Motor Epilepsy, Focal|Motor Partial Seizure Disorder|Motor Seizure Disorder|Motor Seizure Disorders|Partial Epilepsy, Motor|Partial Seizure Disorder, Motor|Seizure Disorder, Hemimotor|Seizure Disorder, Motor|Seizure Disorder, Partial, Motor|Seizure Disorders, Hemimotor|Seizure Disorders, Motor|Seizure, Focal Clonic|Seizures, Versive|Seizure, Versive|Tonic Seizure, Focal|Tonic Seizures, Focal|Versive Seizure|Versive Seizures Nervous system disease Epilepsy, Partial, Sensory MESH:D020937 DO:DOID:3330 A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL). MESH:D004828 C10.228.140.490.360.275 C10.228.140.490.360 Epilepsy, Sensory|Epilepsy, Sensory Partial|Focal Seizure Disorder, Sensory|Focal Sensory Seizure|Focal Sensory Seizures|Gustatory Partial Seizure|Gustatory Partial Seizures|Olfactory Partial Seizure|Olfactory Partial Seizures|Partial Epilepsy, Sensory|Partial Seizure, Gustatory|Partial Seizure, Olfactory|Partial Seizures, Gustatory|Partial Seizures, Olfactory|Partial Seizures, Vertiginous|Partial Seizures, Visual|Partial Seizure, Vertiginous|Partial Seizure, Visual|Partial Sensory Seizure|Partial Sensory Seizures|Seizure Disorder, Partial, Sensory|Seizure Disorder, Sensory|Seizure Disorder, Sensory, Focal|Seizure Disorders, Sensory|Seizure, Focal Sensory|Seizure, Gustatory Partial|Seizure, Olfactory Partial|Seizure, Partial Sensory|Seizures, Focal Sensory|Seizures, Olfactory Partial|Seizures, Partial Sensory|Seizures, Simple Partial, Special Sensory Symptoms|Seizures, Vertiginous Partial|Seizure, Vertiginous Partial|Seizure, Visual Partial|Sensory Epilepsy|Sensory Focal Seizure Disorder|Sensory Partial Epilepsy|Sensory Partial Seizure Disorder|Sensory Seizure Disorder|Sensory Seizure Disorders|Sensory Seizure, Focal|Sensory Seizure, Partial|Sensory Seizures, Focal|Sensory Seizures, Partial|Simple Partial Seizures, Special Sensory Symptoms|Vertiginous Partial Seizure|Vertiginous Partial Seizures|Visual Partial Seizure|Visual Partial Seizures Nervous system disease Epilepsy, Partial, with Pericentral Spikes MESH:C564605 OMIM:607221 MESH:D004828 C10.228.140.490.360/C564605 C10.228.140.490.360 EPPS|PEPS Nervous system disease Epilepsy, Partial, with Variable Foci MESH:C565785 OMIM:604364|OMIM:617116|OMIM:617118 MESH:D004828 C10.228.140.490.360/C565785 C10.228.140.490.360 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI|EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1|EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2|EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3|EPILEPSY, PARTIAL, WITH VARIABLE FOCI|FFEVF|FFEVF1|FFEVF2|FFEVF3|FPEVF Nervous system disease Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation MESH:C565587 MESH:D002547|MESH:D004827|MESH:D008607 C10.228.140.140.254/C565587|C10.228.140.490/C565587|C10.597.606.360/C565587|C23.888.592.604.646/C565587|F03.625.539/C565587 C10.228.140.140.254|C10.228.140.490|C10.597.606.360|C23.888.592.604.646|F03.625.539 Mental disorder|Nervous system disease|Signs and symptoms Epilepsy, Post-Traumatic MESH:D004834 Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6) MESH:D001930|MESH:D004827 C10.228.140.199.650|C10.228.140.490.380|C10.900.300.087.600|C26.915.300.200.475 C10.228.140.199|C10.228.140.490|C10.900.300.087|C26.915.300.200 Concussive Convulsion|Concussive Convulsions|Convulsion, Concussive|Convulsions, Concussive|Disorder, Post-Traumatic Seizure|Disorders, Post-Traumatic Seizure|Early Post-Traumatic Seizure|Early Post Traumatic Seizures|Early Post-Traumatic Seizures|Epilepsies, Post-Traumatic|Epilepsies, Traumatic|Epilepsy, Post Traumatic|Epilepsy, Traumatic|Impact Seizure|Impact Seizures|Late Post-Traumatic Seizure|Late Post Traumatic Seizures|Late Post-Traumatic Seizures|Post-Traumatic Epilepsies|Post-Traumatic Epilepsy|Post Traumatic Seizure Disorder|Post-Traumatic Seizure Disorder|Post-Traumatic Seizure Disorders|Post-Traumatic Seizure, Early|Post-Traumatic Seizure, Late|Post-Traumatic Seizures, Early|Post-Traumatic Seizures, Late|Seizure Disorder, Post Traumatic|Seizure Disorder, Post-Traumatic|Seizure Disorders, Post-Traumatic|Seizure, Early Post-Traumatic|Seizure, Late Post-Traumatic|Seizures, Early Post-Traumatic|Seizures, Late Post-Traumatic|Traumatic Epilepsies|Traumatic Epilepsy Nervous system disease|Wounds and injuries Epilepsy, Progressive Myoclonic 2B MESH:C564976 MESH:D020191 C10.228.140.490.375.130.650/C564976|C10.228.140.490.493.063.650/C564976 C10.228.140.490.375.130.650|C10.228.140.490.493.063.650 Nervous system disease Epilepsy, Progressive Myoclonic 3 MESH:C567095 DO:DOID:0111446 MESH:D020191 C10.228.140.490.375.130.650/C567095|C10.228.140.490.493.063.650/C567095 C10.228.140.490.375.130.650|C10.228.140.490.493.063.650 Nervous system disease EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS OMIM:611726 DO:DOID:0111446 MESH:D020191 C10.228.140.490.375.130.650/611726|C10.228.140.490.493.063.650/611726 C10.228.140.490.375.130.650|C10.228.140.490.493.063.650 CEROID LIPOFUSCINOSIS, NEURONAL, 14|CLN14|EPM3 Nervous system disease EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE OMIM:254900 DO:DOID:0111444 MESH:D009207|MESH:D051437 C10.597.350.500/254900|C12.050.351.968.419.780/254900|C12.200.777.419.780/254900|C12.950.419.780/254900|C23.888.592.350.500/254900 C10.597.350.500|C12.050.351.968.419.780|C12.200.777.419.780|C12.950.419.780|C23.888.592.350.500 ACTION MYOCLONUS-RENAL FAILURE SYNDROME|AMRF|EPM4|MYOCLONUS-NEPHROPATHY SYNDROME Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Epilepsy, Reflex MESH:D020195 DO:DOID:2548 A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8) MESH:D004827 C10.228.140.490.450 C10.228.140.490 Audiogenic Epilepsies|Audiogenic Epilepsy|Audiogenic Reflex Epilepsies|Audiogenic Reflex Epilepsy|Cursive Epilepsy|Cursive Reflex Epilepsies (Running)|Cursive Reflex Epilepsy (Running)|Decision Making Reflex Epilepsy|Eating-Induced Epilepsies|Eating Induced Epilepsy|Eating-Induced Epilepsy|Eating-Induced Reflex Epilepsies|Eating-Induced Reflex Epilepsy|Epilepsies, Audiogenic Reflex|Epilepsies, Cursive|Epilepsies, Eating-Induced|Epilepsies, Eating-Induced Reflex|Epilepsies, Immersion Related|Epilepsies, Musicogenic|Epilepsies, Musicogenic Reflex|Epilepsies, Photosensitive|Epilepsies, Photosensitive Reflex|Epilepsies, Reading|Epilepsies, Reading Reflex|Epilepsies, Reflex|Epilepsies, Tactile Reflex|Epilepsies, Writing-Induced Reflex|Epilepsy, Audiogenic|Epilepsy, Audiogenic Reflex|Epilepsy, Cursive|Epilepsy, Cursive Reflex (Running)|Epilepsy, Eating-Induced|Epilepsy, Eating-Induced Reflex|Epilepsy, Immersion Related|Epilepsy, Musicogenic|Epilepsy, Musicogenic Reflex|Epilepsy, Photogenic|Epilepsy, Photosensitive|Epilepsy, Photosensitive Reflex|Epilepsy, Reading|Epilepsy, Reading Reflex|Epilepsy, Tactile Reflex|Epilepsy, Writing-Induced Reflex|Immersion Related Epilepsies|Immersion Related Epilepsy|Musicogenic Epilepsies|Musicogenic Epilepsy|Musicogenic Reflex Epilepsies|Musicogenic Reflex Epilepsy|Photosensitive Epilepsies|Photosensitive Epilepsy|Photosensitive Reflex Epilepsies|Photosensitive Reflex Epilepsy|Reading Epilepsies|Reading Epilepsy|Reading Reflex Epilepsies|Reading Reflex Epilepsy|Reflex Epilepsies|Reflex Epilepsies, Audiogenic|Reflex Epilepsies, Cursive (Running)|Reflex Epilepsies, Eating-Induced|Reflex Epilepsies, Musicogenic|Reflex Epilepsies, Photosensitive|Reflex Epilepsies, Reading|Reflex Epilepsies, Tactile|Reflex Epilepsies, Writing-Induced|Reflex Epilepsy|Reflex Epilepsy, Audiogenic|Reflex Epilepsy, Cursive (Running)|Reflex Epilepsy, Eating Induced|Reflex Epilepsy, Eating-Induced|Reflex Epilepsy, Musicogenic|Reflex Epilepsy, Photosensitive|Reflex Epilepsy, Reading|Reflex Epilepsy, Tactile|Reflex Epilepsy, Visual Pattern|Reflex Epilepsy, Writing-Induced|Tactile Reflex Epilepsies|Tactile Reflex Epilepsy|Visual Pattern Reflex Epilepsy|Writing-Induced Reflex Epilepsies|Writing Induced Reflex Epilepsy|Writing-Induced Reflex Epilepsy Nervous system disease Epilepsy, Rolandic MESH:D019305 DO:DOID:3329|OMIM:117100 An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and DYSARTHRIA. In most cases, affected children are neurologically and developmentally normal. (From Epilepsia 1998 39;Suppl 4:S32-S41) MESH:D000073376|MESH:D004828 C10.228.140.490.360.280|C10.228.140.490.493.250 C10.228.140.490.360|C10.228.140.490.493 BCECTS|BECTS|Benign Childhood Epilepsy With Centro Temporal Spikes|Benign Childhood Epilepsy With Centro-Temporal Spikes|Benign Epilepsy Of Childhood With Centrotemporal Spikes|Benign Epilepsy With Centrotemporal Spikes|Benign Rolandic Epilepsy|Benign Rolandic Epilepsy of Childhood|Centralopathic Epilepsies|Centralopathic Epilepsy|Centrotemporal Epilepsies|Centrotemporal Epilepsy|ECT|Epilepsies, Centralopathic|Epilepsies, Centrotemporal|Epilepsies, Rolandic|Epilepsies, Temporal-Central Focal|Epilepsy, Benign Rolandic|Epilepsy, Centralopathic|Epilepsy, Centrotemporal|Epilepsy, Rolands|Epilepsy, Sylvian|Epilepsy, Temporal-Central Focal|Focal Epilepsies, Temporal-Central|Focal Epilepsy, Temporal-Central|Rolandic Epilepsies|Rolandic Epilepsy|Rolandic Epilepsy, Benign|Rolands Epilepsy|Sylvian Epilepsy|Temporal-Central Focal Epilepsies|Temporal Central Focal Epilepsy|Temporal-Central Focal Epilepsy Nervous system disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp MESH:C535499 OMIM:608105 MESH:D004421|MESH:D019305|MESH:D020821 C10.228.140.490.360.280/C535499|C10.228.140.490.493.250/C535499|C10.228.662.300/C535499|C10.597.350.300/C535499|C23.888.592.350.300/C535499 C10.228.140.490.360.280|C10.228.140.490.493.250|C10.228.662.300|C10.597.350.300|C23.888.592.350.300 Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer's Cramp|EPRPDC|RE-PED-WC Nervous system disease|Signs and symptoms Epilepsy telangiectasia MESH:C535497 MESH:D004406|MESH:D004827|MESH:D008607|MESH:D013684 C10.228.140.490/C535497|C10.597.606.360/C535497|C14.907.823/C535497|C15.378.147.333/C535497|C20.673.430/C535497|C23.888.592.604.646/C535497|F03.625.539/C535497 C10.228.140.490|C10.597.606.360|C14.907.823|C15.378.147.333|C20.673.430|C23.888.592.604.646|F03.625.539 Epilepsy-Telangiectasia Blood disease|Cardiovascular disease|Immune system disease|Mental disorder|Nervous system disease|Signs and symptoms Epilepsy, Temporal Lobe MESH:D004833 DO:DOID:3328 A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the TEMPORAL LOBE, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic. (From Adams et al., Principles of Neurology, 6th ed, p321). MESH:D000073376|MESH:D004828 C10.228.140.490.360.290|C10.228.140.490.493.375 C10.228.140.490.360|C10.228.140.490.493 Benign Psychomotor Epilepsy, Childhood|Childhood Benign Psychomotor Epilepsy|Epilepsies, Lateral Temporal|Epilepsies, Temporal Lobe|Epilepsies, Uncinate|Epilepsy, Benign Psychomotor, Childhood|Epilepsy, Lateral Temporal|Epilepsy, Uncinate|Lateral Temporal Epilepsies|Lateral Temporal Epilepsy|Temporal Lobe Epilepsies|Temporal Lobe Epilepsy|Uncinate Epilepsies|Uncinate Epilepsy Nervous system disease Epilepsy, Tonic-Clonic MESH:D004830 DO:DOID:7725 A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329) MESH:D004829 C10.228.140.490.375.290 C10.228.140.490.375 Convulsion Disorders, Tonic-Clonic|Convulsion Disorder, Tonic-Clonic|Convulsion, Grand Mal|Convulsions, Grand Mal|Convulsions, Tonic Clonic|Convulsion Syndromes, Tonic-Clonic|Convulsion Syndrome, Tonic-Clonic|Convulsion, Tonic Clonic|Cryptogenic Tonic-Clonic Epilepsies|Cryptogenic Tonic Clonic Epilepsy|Cryptogenic Tonic-Clonic Epilepsy|Disorders, Tonic-Clonic Convulsion|Disorders, Tonic-Clonic Seizure|Disorder, Tonic-Clonic Convulsion|Disorder, Tonic-Clonic Seizure|Epilepsies, Cryptogenic Tonic-Clonic|Epilepsies, Familial Tonic-Clonic|Epilepsies, Symptomatic Tonic-Clonic|Epilepsies, Tonic-Clonic|Epilepsy, Cryptogenic Tonic-Clonic|Epilepsy, Familial Tonic-Clonic|Epilepsy, Grand Mal|Epilepsy, Major|Epilepsy, Symptomatic Tonic-Clonic|Epilepsy, Tonic Clonic|Epilepsy, Tonic-Clonic, Cryptogenic|Epilepsy, Tonic-Clonic, Familial|Epilepsy, Tonic-Clonic, Symptomatic|Familial Tonic-Clonic Epilepsies|Familial Tonic Clonic Epilepsy|Familial Tonic-Clonic Epilepsy|Grand Mal Convulsion|Grand Mal Convulsions|Grand Mal Epilepsy|Grand Mal Seizure Disorder|Major Epilepsies|Major Epilepsy|Major Motor Seizure Disorder|Seizure Disorder, Grand Mal|Seizure Disorder, Major Motor|Seizure Disorders, Tonic-Clonic|Seizure Disorder, Tonic Clonic|Seizure Disorder, Tonic-Clonic|Seizure Syndromes, Tonic-Clonic|Seizure Syndrome, Tonic-Clonic|Symptomatic Tonic-Clonic Epilepsies|Symptomatic Tonic Clonic Epilepsy|Symptomatic Tonic-Clonic Epilepsy|Syndromes, Tonic-Clonic Convulsion|Syndromes, Tonic-Clonic Seizure|Syndrome, Tonic-Clonic Convulsion|Syndrome, Tonic-Clonic Seizure|Tonic Clonic Convulsion|Tonic Clonic Convulsion Disorder|Tonic-Clonic Convulsion Disorder|Tonic-Clonic Convulsion Disorders|Tonic Clonic Convulsions|Tonic Clonic Convulsion Syndrome|Tonic-Clonic Convulsion Syndrome|Tonic-Clonic Convulsion Syndromes|Tonic-Clonic Epilepsies|Tonic-Clonic Epilepsies, Cryptogenic|Tonic-Clonic Epilepsies, Familial|Tonic-Clonic Epilepsies, Symptomatic|Tonic-Clonic Epilepsy|Tonic-Clonic Epilepsy, Cryptogenic|Tonic-Clonic Epilepsy, Familial|Tonic-Clonic Epilepsy, Symptomatic|Tonic Clonic Seizure Disorder|Tonic-Clonic Seizure Disorder|Tonic-Clonic Seizure Disorders|Tonic Clonic Seizure Syndrome|Tonic-Clonic Seizure Syndrome|Tonic-Clonic Seizure Syndromes Nervous system disease Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders MESH:C564505 DO:DOID:0112122|OMIM:300491 MESH:D001523|MESH:D004827|MESH:D007859|MESH:D040181 C10.228.140.490/C564505|C10.597.606.150.550/C564505|C16.320.322/C564505|C23.888.592.604.150.550/C564505|F03.625.562/C564505|F03/C564505 C10.228.140.490|C10.597.606.150.550|C16.320.322|C23.888.592.604.150.550|F03|F03.625.562 BATHING EPILEPSY, X-LINKED|EPILEPSY, X-LINKED 1, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS|EPILEPSY, X-LINKED, WITH REFLEX BATHING SEIZURES|EPILX1 Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Epileptic Encephalopathy, Early Infantile, 3 MESH:C562695 OMIM:609304 MESH:D013036 C10.228.140.490.375.760/C562695|C10.228.140.490.493.875/C562695 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE3|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3|Early Myoclonic Encephalopathy|EIEE3|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3|Myoclonic Epilepsy, Neonatal, With Suppression-Burst Pattern Nervous system disease Epileptic Encephalopathy, Early Infantile, 4 MESH:C567404 OMIM:612164 MESH:D013036 C10.228.140.490.375.760/C567404|C10.228.140.490.493.875/C567404 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE4|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4|EIEE4|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 Nervous system disease Epileptic encephalopathy, Lennox-Gastaut type MESH:C535500 OMIM:606369 MESH:D065768 C10.228.140.490.493.750/C535500|C16.320.495/C535500 C10.228.140.490.493.750|C16.320.495 Childhood Epileptic Encephalopathy with Diffuse Slow Spikes and Waves|MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY Genetic disease (inborn)|Nervous system disease Epileptic Syndromes MESH:D000073376 EPILEPTIC SEIZURES that are of similar type and age of onset and have other similar features (e.g., clinical course, EEG findings, genetic association and neuropathology). MESH:D004827 C10.228.140.490.493 C10.228.140.490 Epilepsies, Familial|Epilepsies, Syndromic|Epilepsy, Familial|Epilepsy Syndrome|Epilepsy Syndromes|Epilepsy, Syndromic|Epileptic Syndrome|Familial Epilepsies|Familial Epilepsy|Syndromic Epilepsies|Syndromic Epilepsy Nervous system disease EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE OMIM:615923 DO:DOID:0070316 MESH:D010009 C05.116.099.708/615923|C16.320.728/615923 C05.116.099.708|C16.320.728 ECDM Genetic disease (inborn)|Musculoskeletal disease Epiphyseal Dysplasia, Baumann Type MESH:C563664 MESH:D010009 C05.116.099.708/C563664|C16.320.728/C563664 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Epiphyseal dysplasia, multiple, 1 MESH:C535501 DO:DOID:0070303|OMIM:132400 MESH:D010009 C05.116.099.708/C535501|C16.320.728/C535501 C05.116.099.708|C16.320.728 EDM1|EPIPHYSEAL DYSPLASIA, RIBBING TYPE, INCLUDED|Multiple epiphyseal dysplasia, cartilage oligomeric matrix protein related|Multiple epiphyseal dysplasia, COMP-related|MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-RELATED EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE, INCLUDED Genetic disease (inborn)|Musculoskeletal disease Epiphyseal dysplasia, multiple, 2 MESH:C535502 OMIM:600204 MESH:D010009 C05.116.099.708/C535502|C16.320.728/C535502 C05.116.099.708|C16.320.728 EDM2|Multiple epiphyseal dysplasia, 2 Genetic disease (inborn)|Musculoskeletal disease Epiphyseal dysplasia, multiple, 3 MESH:C535503 OMIM:600969 MESH:D010009 C05.116.099.708/C535503|C16.320.728/C535503 C05.116.099.708|C16.320.728 EDM3|EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY, INCLUDED|Multiple epiphyseal dysplasia 3 Genetic disease (inborn)|Musculoskeletal disease Epiphyseal dysplasia, multiple, 4 MESH:C535504 DO:DOID:0070300|OMIM:226900 MESH:D010009 C05.116.099.708/C535504|C16.320.728/C535504 C05.116.099.708|C16.320.728 Autosomal recessive multiple epiphyseal dysplasia|EDM4|Multiple epiphyseal dysplasia 4|Multiple epiphyseal dysplasia, autosomal recessive|Multiple epiphyseal dysplasia with bilayered patellae|Multiple epiphyseal dysplasia with clubfoot|Multiple epiphyseal dysplasia with double-layered patella Genetic disease (inborn)|Musculoskeletal disease Epiphyseal dysplasia, multiple, 5 MESH:C535505 DO:DOID:0070299|OMIM:607078 MESH:D010009 C05.116.099.708/C535505|C16.320.728/C535505 C05.116.099.708|C16.320.728 BHMED|EDM5|Microepiphyseal Dysplasia, Bilateral Hereditary|Multiple epiphyseal dysplasia 5|Multiple epiphyseal dysplasia, MATN3 related|Multiple Epiphyseal Dysplasia, Matn3-Related Genetic disease (inborn)|Musculoskeletal disease EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 OMIM:614135 DO:DOID:0070301 MESH:D010009 C05.116.099.708/614135|C16.320.728/614135 C05.116.099.708|C16.320.728 EDM6 Genetic disease (inborn)|Musculoskeletal disease Epiphyseal Dysplasia, Multiple, with Miniepiphyses MESH:C563735 MESH:D010009 C05.116.099.708/C563735|C16.320.728/C563735 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Epiphyseal Dysplasia, Multiple, with Myopathy MESH:C563420 MESH:D009135|MESH:D010009 C05.116.099.708/C563420|C05.651/C563420|C10.668.491/C563420|C16.320.728/C563420 C05.116.099.708|C05.651|C10.668.491|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness MESH:C565046 DO:DOID:0111348|OMIM:132450 MESH:D006314|MESH:D009216|MESH:D010009 C05.116.099.708/C565046|C09.218.458.341.562/C565046|C10.597.751.418.341.562/C565046|C11.744.636/C565046|C16.320.728/C565046|C23.888.592.763.393.341.562/C565046 C05.116.099.708|C09.218.458.341.562|C10.597.751.418.341.562|C11.744.636|C16.320.728|C23.888.592.763.393.341.562 EDMMD Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia MESH:C563736 MESH:D010009 C05.116.099.708/C563736|C16.320.728/C563736 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness MESH:C565585 MESH:D003638|MESH:D009216|MESH:D010009 C05.116.099.708/C565585|C09.218.458.341.186/C565585|C10.597.751.418.341.186/C565585|C11.744.636/C565585|C16.320.728/C565585|C23.888.592.763.393.341.186/C565585 C05.116.099.708|C09.218.458.341.186|C10.597.751.418.341.186|C11.744.636|C16.320.728|C23.888.592.763.393.341.186 Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Epiphyses, Slipped MESH:D004839 A complete or partial separation of the EPIPHYSES from the DIAPHYSES. MESH:D001847 C05.116.425 C05.116 Epiphysiolyses|Epiphysiolysis|Slipped Epiphyses Musculoskeletal disease Epiretinal Membrane MESH:D019773 DO:DOID:2006 A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) RETINAL PIGMENT EPITHELIUM. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the FOVEA CENTRALIS. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with RETINAL HOLES, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291) MESH:D012164 C11.768.328 C11.768 Cellophane Maculopathies|Cellophane Maculopathy|Epimacular Membrane|Epimacular Membranes|Epiretinal Membranes|Fibrosis, Premacular|Fibrosis, Preretinal Macular|Macular Fibrosis, Preretinal|Macular Pucker|Macular Puckers|Maculopathy, Cellophane|Membrane, Epimacular|Membrane, Epiretinal|Membrane, Preretinal|Premacular Fibroses|Premacular Fibrosis|Preretinal Macular Fibroses|Preretinal Macular Fibrosis|Preretinal Membrane|Preretinal Membranes|Pucker, Macular|Retinopathy, Surface-Wrinkling|Surface-Wrinkling Retinopathies|Surface Wrinkling Retinopathy|Surface-Wrinkling Retinopathy Eye disease Episodic Ataxia MESH:C580065 DO:DOID:963 MESH:D001259 C10.597.350.090/C580065|C23.888.592.350.090/C580065 C10.597.350.090|C23.888.592.350.090 Nervous system disease|Signs and symptoms Episodic Ataxia, Type 1 MESH:C563278 OMIM:160120 MESH:D001259|MESH:D020385 C10.597.350.090/C563278|C10.597.613.650/C563278|C23.888.592.350.090/C563278|C23.888.592.608.650/C563278 C10.597.350.090|C10.597.613.650|C23.888.592.350.090|C23.888.592.608.650 AEM|AEMK|Ataxia, Episodic, with Myokymia|CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY, INCLUDED|EA1|EAM|Episodic Ataxia with Myokymia|ISAACS-MERTENS SYNDROME, INCLUDED|Myokymia 1 With Or Without Hypomagnesemia|MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA, INCLUDED|Myokymia with Periodic Ataxia|MYOKYMIA WITH PERIODIC ATAXIA MYOKYMIA 1, INCLUDED|Paroxysmal Ataxia with Neuromyotonia, Hereditary Nervous system disease|Signs and symptoms Episodic Ataxia, Type 2 MESH:C535506 DO:DOID:0050990|OMIM:108500 MESH:D001259|MESH:D009759 C10.292.562.675/C535506|C10.597.350.090/C535506|C11.590.400/C535506|C23.888.592.350.090/C535506 C10.292.562.675|C10.597.350.090|C11.590.400|C23.888.592.350.090 Acetazolamide-responsive episodic ataxia syndrome|Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia|Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia|APCA|Ataxia, Episodic, With Nystagmus|Ataxia, familial, paroxysmal|Ataxia, Familial Paroxysmal|CAPA|Cerebellar ataxia, paroxysmal, Acetazolamide-responsive|Cerebellopathy, hereditary paroxysmal|EA2|Episodic Ataxia, Nystagmus-Associated|Episodic ataxia type 2|Episodic ataxia with nystagmus|Nystagmus-associated episodic ataxia Eye disease|Nervous system disease|Signs and symptoms Episodic Ataxia, Type 3 MESH:C564697 OMIM:606554 MESH:D001259|MESH:D014012|MESH:D014717 C09.218.458.670/C564697|C09.218.568.900.883/C564697|C10.597.350.090/C564697|C10.597.751.418.670/C564697|C10.597.951/C564697|C23.888.592.350.090/C564697|C23.888.592.763.393.670/C564697|C23.888.592.958/C564697 C09.218.458.670|C09.218.568.900.883|C10.597.350.090|C10.597.751.418.670|C10.597.951|C23.888.592.350.090|C23.888.592.763.393.670|C23.888.592.958 Ataxia, Episodic, With Vertigo And Tinnitus|EA3 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Episodic Ataxia, Type 4 MESH:C564698 MESH:D001259 C10.597.350.090/C564698|C23.888.592.350.090/C564698 C10.597.350.090|C23.888.592.350.090 Ataxia, Periodic Vestibulocerebellar|Periodic Vestibulocerebellar Ataxia Nervous system disease|Signs and symptoms Episodic Ataxia, Type 5 MESH:C566601 OMIM:613855 MESH:D002524 C10.228.140.252.190/C566601|C10.597.350.090.500/C566601|C23.888.592.350.090.200/C566601 C10.228.140.252.190|C10.597.350.090.500|C23.888.592.350.090.200 EA5 Nervous system disease|Signs and symptoms Episodic Ataxia, Type 6 MESH:C567207 OMIM:612656 MESH:D002524 C10.228.140.252.190/C567207|C10.597.350.090.500/C567207|C23.888.592.350.090.200/C567207 C10.228.140.252.190|C10.597.350.090.500|C23.888.592.350.090.200 EA6 Nervous system disease|Signs and symptoms Episodic Ataxia, Type 7 MESH:C567459 OMIM:611907 MESH:D001259 C10.597.350.090/C567459|C23.888.592.350.090/C567459 C10.597.350.090|C23.888.592.350.090 EA7 Nervous system disease|Signs and symptoms Episodic Kinesigenic Dyskinesia 2 MESH:C567026 DO:DOID:0090054|OMIM:611031 MESH:D020820 C10.228.662.262/C567026|C10.597.350/C567026|C23.888.592.350/C567026 C10.228.662.262|C10.597.350|C23.888.592.350 Dystonia 19|DYT19|EKD2 Nervous system disease|Signs and symptoms Episodic Muscle Weakness, X-Linked MESH:C564565 OMIM:300211 MESH:D018908|MESH:D040181 C05.651.515/C564565|C10.597.613.593/C564565|C16.320.322/C564565|C23.550.695/C564565|C23.888.592.608.593/C564565 C05.651.515|C10.597.613.593|C16.320.322|C23.550.695|C23.888.592.608.593 EMWX Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms EPISODIC PAIN SYNDROME, FAMILIAL, 1 OMIM:615040 DO:DOID:0111729 MESH:D010146 C23.888.592.612/615040 C23.888.592.612 FEPS1 Signs and symptoms EPISODIC PAIN SYNDROME, FAMILIAL, 2 OMIM:615551 DO:DOID:0111730 MESH:D010146 C23.888.592.612/615551 C23.888.592.612 FEPS2 Signs and symptoms EPISODIC PAIN SYNDROME, FAMILIAL, 3 OMIM:615552 DO:DOID:0111731 MESH:D010146 C23.888.592.612/615552 C23.888.592.612 FEPS3 Signs and symptoms Epispadias MESH:D004842 A birth defect due to malformation of the URETHRA in which the urethral opening is above its normal location. In the male, the malformed urethra generally opens on the top or the side of the PENIS, but the urethra can also be open the entire length of the penis. In the female, the malformed urethral opening is often between the CLITORIS and the labia, or in the ABDOMEN. MESH:D014522|MESH:D014564 C12.050.351.875.374|C12.050.351.968.767.374|C12.200.706.374|C12.200.777.767.374|C12.800.374|C12.950.767.374|C16.131.939.374 C12.050.351.875|C12.050.351.968.767|C12.200.706|C12.200.777.767|C12.800|C12.950.767|C16.131.939 Epispadia Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Epistaxis MESH:D004844 Bleeding from the nose. MESH:D006470|MESH:D009668|MESH:D012818 C08.460.261|C09.603.261|C23.550.414.712|C23.888.852.040 C08.460|C09.603|C23.550.414|C23.888.852 Bleeding, Nasal|Bleedings, Nasal|Nasal Bleeding|Nasal Bleedings|Nosebleed|Nose Bleed|Nosebleeds|Nose Bleeds Ear-nose-throat disease|Pathology (process)|Respiratory tract disease|Signs and symptoms Epistaxis, Hereditary MESH:C562751 MESH:D004844|MESH:D030342 C08.460.261/C562751|C09.603.261/C562751|C16.320/C562751|C23.550.414.712/C562751|C23.888.852.040/C562751 C08.460.261|C09.603.261|C16.320|C23.550.414.712|C23.888.852.040 Ear-nose-throat disease|Genetic disease (inborn)|Pathology (process)|Respiratory tract disease|Signs and symptoms Epithelial Recurrent Erosion Dystrophy MESH:C565155 DO:DOID:0070337|OMIM:122400 MESH:D003317 C11.204.236/C565155|C11.270.162/C565155|C16.320.290.162/C565155 C11.204.236|C11.270.162|C16.320.290.162 Corneal Erosions, Recurring Hereditary|ERED Eye disease|Genetic disease (inborn) Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract MESH:C565584 MESH:D000015|MESH:D006130|MESH:D012868 C16.131.077/C565584|C16.131.831/C565584|C17.800.804/C565584|C23.550.393/C565584 C16.131.077|C16.131.831|C17.800.804|C23.550.393 Congenital abnormality|Pathology (process)|Skin disease Epstein-Barr Virus Infections MESH:D020031 DO:DOID:2938 Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY). MESH:D006566|MESH:D014412 C01.925.256.466.313|C01.925.928.313 C01.925.256.466|C01.925.928 EBV Infection|EBV Infections|Epstein Barr Virus Infection|Epstein-Barr Virus Infection|Epstein Barr Virus Infections|Herpesvirus 4 Infections, Human|Human Herpesvirus 4 Infections|Human Herpes Virus 4 Infections|Infection, EBV|Infection, Epstein-Barr Virus|Infections, EBV|Infections, Epstein-Barr Virus|Virus Infection, Epstein-Barr|Virus Infections, Epstein-Barr Viral disease EPSTEIN-BARR VIRUS INSERTION SITE 1 OMIM:132850 MESH:D020031 C01.925.256.466.313/132850|C01.925.928.313/132850 C01.925.256.466.313|C01.925.928.313 EBVS1|EPSTEIN-BARR VIRUS INTEGRATION SITE Viral disease Equine Infectious Anemia MESH:D004859 Viral disease of horses caused by the equine infectious anemia virus (EIAV; INFECTIOUS ANEMIA VIRUS, EQUINE). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions. MESH:D006734|MESH:D012897|MESH:D016180 C01.925.782.815.616.300|C01.925.839.375|C22.488.304 C01.925.782.815.616|C01.925.839|C22.488 Anemia, Equine Infectious|Anemias, Equine Infectious|Equine Infectious Anemias|Fevers, Swamp|Fever, Swamp|Infectious Anemia, Equine|Infectious Anemias, Equine|Swamp Fever|Swamp Fevers Animal disease|Viral disease Equinus Deformity MESH:D004863 Plantar declination of the foot. MESH:D000070558 C05.330.488.655.125|C05.330.495.681.125|C05.660.585.512.380.813.125|C16.131.621.585.512.500.681.125 C05.330.488.655|C05.330.495.681|C05.660.585.512.380.813|C16.131.621.585.512.500.681 Contracture, Equinus|Contractures, Equinus|Deformities, Equinus|Deformity, Equinus|Equinovalgus, Talipes|Equinus Contracture|Equinus Contractures|Equinus Deformities|Talipes Equinovalgus|Talipes Equinus Congenital abnormality|Musculoskeletal disease Erdheim-Chester Disease MESH:D031249 DO:DOID:4329 A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones. MESH:D015616 C15.604.250.410.224 C15.604.250.410 Erdheim Chester Disease|Granulomatosis, Lipid|Lipid Granulomatosis Lymphatic disease Erectile Dysfunction MESH:D007172 The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction. MESH:D005832|MESH:D012735|MESH:D020018 C12.100.500.214|C12.100.875.486|C12.200.294.214|F03.835.400 C12.100.500|C12.100.875|C12.200.294|F03.835 Dysfunction, Erectile|Impotence|Impotence, Male|Impotence, Male Sexual|Male Impotence|Male Sexual Impotence|Sexual Impotence, Male Mental disorder|Urogenital disease (male) Ergotism MESH:D004881 Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine. MESH:D015651 C25.723.680.262 C25.723.680 Ergotisms|Ergot Poisoning|Ergot Poisonings|Fire, St. Anthonys|Poisoning, Ergot|Poisonings, Ergot|Saint Anthony Fire|Saint Anthony's Fire|Saint Anthonys Fire|St. Anthony Fire|St. Anthony's Fire|St. Anthonys Fire Ermine phenotype MESH:C535508 MESH:D006319|MESH:D016116 C09.218.458.341.887/C535508|C10.597.751.418.341.887/C535508|C16.320.290.040.600/C535508|C16.320.565.100.102.600/C535508|C16.320.850.080.600/C535508|C17.800.621.440.102.600/C535508|C17.800.827.080.600/C535508|C18.452.648.100.102.600/C535508|C23.888.592.763.393.341.887/C535508 C09.218.458.341.887|C10.597.751.418.341.887|C16.320.290.040.600|C16.320.565.100.102.600|C16.320.850.080.600|C17.800.621.440.102.600|C17.800.827.080.600|C18.452.648.100.102.600|C23.888.592.763.393.341.887 Cutaneous albinism hermine phenotype|O'Doherty syndrome|Pigmentary disorder with hearing loss Ear-nose-throat disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease Erosive Adenomatosis of the Nipple MESH:C000626393 MESH:D000236|MESH:D001943|MESH:D010212 C04.557.470.035/C000626393|C04.557.470.700.600/C000626393|C04.588.180/C000626393|C17.800.090.500/C000626393 C04.557.470.035|C04.557.470.700.600|C04.588.180|C17.800.090.500 Erosive Adenomatosis|Florid Papillomatosis of the Nipple|Nipple Adenoma|Papillomatosis, Florid, of Nipple Cancer|Skin disease Eructation MESH:D004884 The ejection of gas or air through the mouth from the stomach. MESH:D012817 C23.888.821.297 C23.888.821 Belching|Belchings|Eructations Signs and symptoms Erysipelas MESH:D004886 DO:DOID:11330 An acute infection of the skin caused by species of STREPTOCOCCUS. This disease most frequently affects infants, young children, and the elderly. Characteristics include pink-to-red lesions that spread rapidly and are warm to the touch. The commonest site of involvement is the face. MESH:D013290|MESH:D017192 C01.150.252.410.890.503|C01.150.252.819.260|C01.800.720.260|C17.800.838.765.260 C01.150.252.410.890|C01.150.252.819|C01.800.720|C17.800.838.765 Bacterial infection or mycosis|Skin disease Erysipeloid MESH:D004887 DO:DOID:0050061 An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis. MESH:D004889 C01.150.252.410.334.329 C01.150.252.410.334 Erysipeloids Bacterial infection or mycosis Erysipelothrix Infections MESH:D004889 Infections with bacteria of the genus ERYSIPELOTHRIX. MESH:D000820|MESH:D016908 C01.150.252.410.334|C22.331 C01.150.252.410|C22 Erysipelothrix Infection|Infection, Erysipelothrix|Infections, Erysipelothrix Animal disease|Bacterial infection or mycosis Erythema MESH:D004890 Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of disease processes. MESH:D012871|MESH:D012877 C17.800.229|C23.888.885.328 C17.800|C23.888.885 Erythemas Signs and symptoms|Skin disease Erythema Ab Igne MESH:D000089965 A cutaneous finding caused by prolonged heat exposure (e.g., space heater) and local heat injury (e.g., caused by LASER THERAPY). It is characterized by epidermal atrophy, reticular hyperpigmentation, and telangiectatic dermatosis. MESH:D002056|MESH:D004890 C17.800.229.100|C23.888.885.328.500|C26.200.413 C17.800.229|C23.888.885.328|C26.200 Signs and symptoms|Skin disease|Wounds and injuries Erythema Chronicum Migrans MESH:D015787 A deep type of gyrate erythema that follows a bite by an ixodid tick; it is a stage-1 manifestation of LYME DISEASE. The site of the bite is characterized by a red papule that expands peripherally as a nonscaling, palpable band that clears centrally. This condition is often associated with systemic symptoms such as chills, fever, headache, malaise, nausea, vomiting, fatigue, backache, and stiff neck. MESH:D004890|MESH:D008193|MESH:D017192 C01.150.252.400.536.400|C01.150.252.400.794.352.250.400|C01.150.252.819.310|C01.800.720.310|C01.920.930.513.400|C17.800.229.200|C17.800.838.765.310 C01.150.252.400.536|C01.150.252.400.794.352.250|C01.150.252.819|C01.800.720|C01.920.930.513|C17.800.229|C17.800.838.765 Erythema Migrans of Lyme Disease Bacterial infection or mycosis|Skin disease Erythema elevatum diutinum MESH:C535509 DO:DOID:0060567 MESH:D018366 C14.907.940.910/C535509|C17.800.862.972/C535509|C20.543.520.910/C535509 C14.907.940.910|C17.800.862.972|C20.543.520.910 Extracellular cholesterosis|Leukocytoclastic vasculitis Cardiovascular disease|Immune system disease|Skin disease Erythema Induratum MESH:D004891 A type of panniculitis characterized histologically by the presence of granulomas, vasculitis, and necrosis. It is traditionally considered to be the tuberculous counterpart of nodular vasculitis, but is now known to occur without tuberculous precedent. It is seen most commonly in adolescent and menopausal women, is initiated or exacerbated by cold weather, and typically presents as one or more recurrent erythrocyanotic nodules or plaques on the calves. The nodules may progress to form indurations, ulcerations, and scars. MESH:D004890|MESH:D014382|MESH:D015434 C01.150.252.819.820.260|C01.800.720.820.260|C17.300.710.329|C17.800.229.329|C17.800.566.329|C17.800.838.765.820.320 C01.150.252.819.820|C01.800.720.820|C17.300.710|C17.800.229|C17.800.566|C17.800.838.765.820 Bazin Disease|Bazin's Disease|Bazins Disease|Disease, Bazin|Disease, Bazin's|Tuberculosis Cutis Indurativa Bacterial infection or mycosis|Connective tissue disease|Skin disease Erythema Infectiosum MESH:D016731 DO:DOID:8743 Contagious infection with human B19 Parvovirus most commonly seen in school age children and characterized by fever, headache, and rashes of the face, trunk, and extremities. It is often confused with RUBELLA. MESH:D004890|MESH:D010322|MESH:D017193 C01.925.256.700.300|C01.925.825.260|C17.800.229.335|C17.800.838.790.260 C01.925.256.700|C01.925.825|C17.800.229|C17.800.838.790 Fifth Disease|Infection, Parvovirus B19|Parvovirus B19 Infection|Parvovirus B19 Infections Skin disease|Viral disease Erythema Multiforme MESH:D004892 DO:DOID:0050185 A skin and mucous membrane disease characterized by an eruption of macules, papules, nodules, vesicles, and/or bullae with characteristic 'bull's-eye' lesions usually occurring on the dorsal aspect of the hands and forearms. MESH:D004890|MESH:D012872 C17.800.229.400|C17.800.865.475 C17.800.229|C17.800.865 Skin disease Erythema Nodosum MESH:D004893 DO:DOID:0080750 An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. These nodules are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas. This condition usually subsides in 3-6 weeks without scarring or atrophy. MESH:D003875|MESH:D004890 C17.800.174.600.375|C17.800.229.413|C25.100.468.380.375 C17.800.174.600|C17.800.229|C25.100.468.380 Skin disease Erythema nodosum, familial MESH:C535510 MESH:D004893 C17.800.174.600.375/C535510|C17.800.229.413/C535510|C25.100.468.380.375/C535510 C17.800.174.600.375|C17.800.229.413|C25.100.468.380.375 Familial erythema nodosum Skin disease Erythema nodosum, idiopathic MESH:C535511 MESH:D004893 C17.800.174.600.375/C535511|C17.800.229.413/C535511|C25.100.468.380.375/C535511 C17.800.174.600.375|C17.800.229.413|C25.100.468.380.375 Erythema nodosum of unknown etiology|Idiopathic erythema nodosum Skin disease Erythema Palmare Hereditarium MESH:C565041 MESH:D006229 C17.800.338/C565041 C17.800.338 Skin disease Erythrasma MESH:D004894 DO:DOID:4131 A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum. MESH:D003354|MESH:D017192 C01.150.252.410.040.246.694|C01.150.252.819.320|C01.800.720.320|C17.800.838.765.320 C01.150.252.410.040.246|C01.150.252.819|C01.800.720|C17.800.838.765 Bacterial infection or mycosis|Skin disease Erythremia, Alpha-Globin Type MESH:C564195 MESH:D011087 C04.588.448.200.500/C564195|C15.378.190.250.500/C564195|C15.378.190.636.753/C564195|C15.378.400.200.500/C564195 C04.588.448.200.500|C15.378.190.250.500|C15.378.190.636.753|C15.378.400.200.500 Blood disease|Cancer Erythremia, Beta-Globin Type MESH:C564193 MESH:D011087 C04.588.448.200.500/C564193|C15.378.190.250.500/C564193|C15.378.190.636.753/C564193|C15.378.400.200.500/C564193 C04.588.448.200.500|C15.378.190.250.500|C15.378.190.636.753|C15.378.400.200.500 Blood disease|Cancer Erythroblastosis, Fetal MESH:D004899 DO:DOID:1098 A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN. MESH:D005315|MESH:D006402|MESH:D007154|MESH:D007232 C12.050.703.277.060|C15.378.295|C16.300.060|C16.614.304|C20.306 C12.050.703.277|C15.378|C16.300|C16.614|C20 Erythroblastoses, Fetal|Erythroblastosis Fetali|Erythroblastosis Fetalis|Fetal Erythroblastoses|Fetal Erythroblastosis|Fetali, Erythroblastosis|Fetalis, Erythroblastosis|Hemolytic Disease of Newborn|Newborn Hemolytic Disease|Newborn Hemolytic Diseases Blood disease|Fetal disease|Immune system disease|Infant-newborn disease|Pregnancy complication Erythrocyte Amp Deaminase Deficiency MESH:C567878 OMIM:612874 MESH:D009135 C05.651/C567878|C10.668.491/C567878 C05.651|C10.668.491 Musculoskeletal disease|Nervous system disease Erythrocyte Lactate Transporter Defect MESH:C565449 OMIM:245340 MESH:D009135 C05.651/C565449|C10.668.491/C565449 C05.651|C10.668.491 Lactate Transporter Defect, Myopathy due to Musculoskeletal disease|Nervous system disease Erythrocytosis, Familial, 2 MESH:C563918 OMIM:263400 MESH:D011086 C15.378.738/C563918 C15.378.738 ECYT2|Erythrocytosis, Autosomal Recessive Benign|Polycythemia, Chuvash Type|Polycythemia, VHL-Dependent|POLYCYTHEMIA, VHL-DEPENDENT POLYCYTHEMIA, CHUVASH TYPE, INCLUDED Blood disease Erythrocytosis, Familial, 3 MESH:C565221 OMIM:609820 MESH:D011086 C15.378.738/C565221 C15.378.738 ECYT3 Blood disease Erythrocytosis, Familial, 4 MESH:C567086 OMIM:611783 MESH:D011086 C15.378.738/C567086 C15.378.738 ECYT4 Blood disease ERYTHROCYTOSIS, FAMILIAL, 8 OMIM:222800 DO:DOID:0111630 MESH:D008661|MESH:D011086 C15.378.738/222800|C16.320.565/222800|C18.452.648/222800 C15.378.738|C16.320.565|C18.452.648 BISPHOSPHOGLYCERATE MUTASE DEFICIENCY|BISPHOSPHOGLYCEROMUTASE DEFICIENCY|BPGM DEFICIENCY|DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE|DPGM DEFICIENCY|ECYT8 Blood disease|Genetic disease (inborn)|Metabolic disease ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE OMIM:615508 MESH:D003873|MESH:D007039|MESH:D007153|MESH:D007645 C16.320.850.475/615508|C17.800.174.318/615508|C17.800.329.937/615508|C17.800.428.435/615508|C17.800.815.318/615508|C17.800.827.475/615508|C20.673/615508 C16.320.850.475|C17.800.174.318|C17.800.329.937|C17.800.428.435|C17.800.815.318|C17.800.827.475|C20.673 EPKHE|SAM SYNDROME|SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME Genetic disease (inborn)|Immune system disease|Skin disease Erythroderma desquamativa of Leiner MESH:C535512 MESH:D003873 C17.800.174.318/C535512|C17.800.815.318/C535512 C17.800.174.318|C17.800.815.318 Erythroderma Desquamativum of Infancy|Generalized erythroderma, diarrhea, and failure to thrive|Leiner-Moussous Desquamative Erythroderma Skin disease Erythrokeratoderma, Reticular MESH:C563781 MESH:D007057 C16.131.831.512/C563781|C16.614.492/C563781|C17.800.428.333/C563781|C17.800.804.512/C563781 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 Aarau Disease Congenital abnormality|Infant-newborn disease|Skin disease Erythrokeratodermia Variabilis MESH:D056266 DO:DOID:0050467|OMIM:133200 An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA. MESH:D004890|MESH:D007642|MESH:D012873 C16.320.850.337|C17.800.229.606|C17.800.428.304|C17.800.827.337 C16.320.850|C17.800.229|C17.800.428|C17.800.827 EKV|EKVP|EKVP1|Erythro et Keratodermia Variabilis|Erythrokeratodermia Figurata, Congenital Familial, in Plaques|Erythrokeratodermia Figurata Variabilis|Erythrokeratodermia, Progressive Symmetric|ERYTHROKERATODERMIA VARIABILIS|ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA|ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1|Erythrokeratodermia Variabilis with Erythema Gyratum Repens|ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS GREITHER DISEASE, INCLUDED|Greither Disease|KERATOSIS PALMOPLANTARIS TRANSGREDIENS ET PROGREDIENS, INCLUDED|Mendes De Costa Syndrome|Progressive Symmetric Erythrokeratodermia|PSEK|Transgrediens et Progrediens Palmoplantar Keratoderma Genetic disease (inborn)|Skin disease Erythrokeratodermia Variabilis 3 MESH:C563739 OMIM:609313 MESH:D056266 C16.320.850.337/C563739|C17.800.229.606/C563739|C17.800.428.304/C563739|C17.800.827.337/C563739 C16.320.850.337|C17.800.229.606|C17.800.428.304|C17.800.827.337 EKV3|ERYTHROKERATODERMIA VARIABILIS 3|Erythrokeratodermia Variabilis, Kamouraska Type|IMPAIRED INTELLECTUAL DEVELOPMENT, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA|MEDNIK|MEDNIK SYNDROME|MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA Genetic disease (inborn)|Skin disease Erythrokeratodermia Variabilis, Autosomal Recessive MESH:C566391 MESH:D056266 C16.320.850.337/C566391|C17.800.229.606/C566391|C17.800.428.304/C566391|C17.800.827.337/C566391 C16.320.850.337|C17.800.229.606|C17.800.428.304|C17.800.827.337 Genetic disease (inborn)|Skin disease Erythrokeratodermia with ataxia MESH:C535738 MESH:D001259|MESH:D012873 C10.597.350.090/C535738|C16.320.850/C535738|C17.800.827/C535738|C23.888.592.350.090/C535738 C10.597.350.090|C16.320.850|C17.800.827|C23.888.592.350.090 Erythrokeratodermia ataxia|Giroux Barbeau Syndrome Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease Erythroleukemia, Familial MESH:C565039 MESH:D015470 C04.557.337.539.275/C565039 C04.557.337.539.275 Di Guglielmo Disease, Familial|Leukemia, Acute Myelogenous, M6 Cancer Erythromelalgia MESH:D004916 DO:DOID:9240|OMIM:133020 A peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS. MESH:D016491 C14.907.617.500 C14.907.617 Erythermalgia|Erythermalgia, Primary|Erythermalgias|Erythermalgias, Primary|Erythromelalgia, Familial|ERYTHROMELALGIA, FAMILIAL NEUROPATHY, SMALL FIBER, INCLUDED|Erythromelalgia, Primary|Erythromelalgias|Familial Erythromelalgia|Primary Erythermalgia|Primary Erythermalgias|Primary Erythromelalgia|SFNP, INCLUDED Cardiovascular disease Erythroplasia MESH:D004919 A condition of the mucous membrane characterized by erythematous papular lesions. MESH:D011230 C04.834.288 C04.834 Erythroplasias Cancer Erythroreticulosis, Hereditary Benign MESH:C566285 MESH:D000742 C15.378.071.141.150.095/C566285|C16.320.070.095/C566285 C15.378.071.141.150.095|C16.320.070.095 Blood disease|Genetic disease (inborn) Escherichia coli Infections MESH:D004927 Infections with bacteria of the species ESCHERICHIA COLI. MESH:D004756 C01.150.252.400.310.330 C01.150.252.400.310 E coli Infection|E. coli Infection|E coli Infections|E. coli Infections|Escherichia coli Infection|Infection, E coli|Infection, E. coli|Infection, Escherichia coli|Infections, E coli|Infections, Escherichia coli Bacterial infection or mycosis Esophageal Achalasia MESH:D004931 DO:DOID:13186|DO:DOID:9164 A motility disorder of the ESOPHAGUS in which the LOWER ESOPHAGEAL SPHINCTER (near the CARDIA) fails to relax resulting in functional obstruction of the esophagus, and DYSPHAGIA. Achalasia is characterized by a grossly contorted and dilated esophagus (megaesophagus). MESH:D015154 C06.405.117.119.500.432 C06.405.117.119.500 Achalasia|Achalasia, Esophageal|Achalasias|Achalasias, Esophageal|Cardiospasm|Cardiospasms|Esophageal Achalasias|Megaesophagus Digestive system disease Esophageal and Gastric Varices MESH:D004932 Dilated blood vessels in the ESOPHAGUS or GASTRIC FUNDUS that shunt blood from the portal circulation (PORTAL SYSTEM) to the systemic venous circulation. Often they are observed in individuals with portal hypertension (HYPERTENSION, PORTAL). MESH:D004935|MESH:D006975 C06.405.117.240|C06.552.494.414 C06.405.117|C06.552.494 Esophageal Varices|Esophageal Varix|Gastric Varices|Gastric Varix|Varices, Esophageal|Varices, Gastric|Varix, Esophageal|Varix, Gastric Digestive system disease Esophageal Atresia MESH:D004933 DO:DOID:10485 Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA. MESH:D004065|MESH:D004935 C06.198.330|C06.405.117.260|C16.131.314.330 C06.198|C06.405.117|C16.131.314 Atresia, Esophageal|Atresias, Esophageal|Esophageal Atresias Congenital abnormality|Digestive system disease Esophageal atresia with or without tracheoesophageal fistula MESH:C531835 OMIM:189960 MESH:D004933|MESH:D014138 C06.198.330/C531835|C06.267.250.725/C531835|C06.405.117.260/C531835|C06.405.117.367.725/C531835|C08.702.750/C531835|C08.907.863/C531835|C16.131.314.330/C531835|C23.300.575.185.250.725/C531835 C06.198.330|C06.267.250.725|C06.405.117.260|C06.405.117.367.725|C08.702.750|C08.907.863|C16.131.314.330|C23.300.575.185.250.725 Ea-Tef|Esophageal Atresia Tracheoesophageal Fistula|Esophageal Atresia-Tracheoesophageal Fistula|ESOPHAGEAL ATRESIA WITH OR WITHOUT TRACHEOESOPHAGEAL FISTULA|Tracheoesophageal fistula with or without esophageal atresia Congenital abnormality|Digestive system disease|Pathology (anatomical condition)|Respiratory tract disease Esophageal Cyst MESH:D004934 Any fluid-filled closed cavity or sac (CYSTS) that is lined by an EPITHELIUM and found in the ESOPHAGUS region. MESH:D003560|MESH:D004935 C04.182.281|C06.405.117.316 C04.182|C06.405.117 Cyst, Esophageal|Cysts, Esophageal|Esophageal Cysts Cancer|Digestive system disease Esophageal Diseases MESH:D004935 DO:DOID:6050 Pathological processes in the ESOPHAGUS. MESH:D005767 C06.405.117 C06.405 Disease, Esophageal|Diseases, Esophageal|Esophageal Disease Digestive system disease Esophageal Fistula MESH:D004937 Abnormal passage communicating with the ESOPHAGUS. The most common type is TRACHEOESOPHAGEAL FISTULA between the esophagus and the TRACHEA. MESH:D004935|MESH:D016154 C06.267.250|C06.405.117.367|C23.300.575.185.250 C06.267|C06.405.117|C23.300.575.185 Esophageal Fistulas|Fistula, Esophageal|Fistulas, Esophageal Digestive system disease|Pathology (anatomical condition) Esophageal Motility Disorders MESH:D015154 DO:DOID:9192 Disorders affecting the motor function of the UPPER ESOPHAGEAL SPHINCTER; LOWER ESOPHAGEAL SPHINCTER; the ESOPHAGUS body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (GASTROESOPHAGEAL REFLUX). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus). MESH:D003680 C06.405.117.119.500 C06.405.117.119 Disorder, Esophageal Motility|Disorders, Esophageal Motility|Dysmotilities, Esophageal|Dysmotility, Esophageal|Esophageal Dysmotilities|Esophageal Dysmotility|Esophageal Motility Disorder|Esophagus, Nutcracker|Motility Disorder, Esophageal|Motility Disorders, Esophageal|Nutcracker Esophagus Digestive system disease Esophageal Neoplasms MESH:D004938 DO:DOID:5041|OMIM:133239 Tumors or cancer of the ESOPHAGUS. MESH:D004935|MESH:D005770|MESH:D006258 C04.588.274.476.205|C04.588.443.353|C06.301.371.205|C06.405.117.430|C06.405.249.205 C04.588.274.476|C04.588.443|C06.301.371|C06.405.117|C06.405.249 AERODIGESTIVE TRACT CANCER, SUSCEPTIBILITY TO, INCLUDED|Cancer, Esophageal|Cancer, Esophagus|Cancer of Esophagus|Cancer of the Esophagus|Cancers, Esophageal|Cancers, Esophagus|ESCC, SUSCEPTIBILITY TO, INCLUDED|Esophageal Cancer|Esophageal Cancers|Esophageal Neoplasm|ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SUSCEPTIBILITY TO, INCLUDED|Esophagus Cancer|Esophagus Cancers|Esophagus Neoplasm|Esophagus Neoplasms|GASTRIC CARDIA ADENOCARCINOMA, SUSCEPTIBILITY TO, INCLUDED|Neoplasm, Esophageal|Neoplasm, Esophagus|Neoplasms, Esophageal|Neoplasms, Esophagus Cancer|Digestive system disease Esophageal Perforation MESH:D004939 An opening or hole in the ESOPHAGUS that is caused by TRAUMA, injury, or pathological process. MESH:D004935|MESH:D014947 C06.405.117.468|C26.348 C06.405.117|C26 Esophageal Perforations|Perforation, Esophageal|Perforations, Esophageal Digestive system disease|Wounds and injuries Esophageal Ring, Lower MESH:C562765 MESH:D003680 C06.405.117.119/C562765|C09.775.174/C562765 C06.405.117.119|C09.775.174 Digestive system disease|Ear-nose-throat disease Esophageal Spasm, Diffuse MESH:D015155 A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA. MESH:D015154 C06.405.117.119.500.450 C06.405.117.119.500 Diffuse Esophageal Spasm|Diffuse Esophageal Spasms|Esophageal Spasm|Esophageal Spasms|Esophageal Spasms, Diffuse|Spasm, Diffuse Esophageal|Spasm, Esophageal|Spasms, Diffuse Esophageal|Spasms, Esophageal Digestive system disease Esophageal Squamous Cell Carcinoma MESH:D000077277 DO:DOID:3748 A carcinoma that originates usually from cells on the surface of the middle and lower third of the ESOPHAGUS. Tumor cells exhibit typical squamous morphology and form large polypoid lesions. Mutations in RNF6, LZTS1, TGFBR2, DEC1, and WWOX1 genes are associated with this cancer. MESH:D002294|MESH:D004938 C04.557.470.200.400.330|C04.557.470.700.400.565|C04.588.274.476.205.500|C04.588.443.353.500|C06.301.371.205.500|C06.405.117.430.500|C06.405.249.205.500 C04.557.470.200.400|C04.557.470.700.400|C04.588.274.476.205|C04.588.443.353|C06.301.371.205|C06.405.117.430|C06.405.249.205 Oesophageal Squamous Cell Carcinoma Cancer|Digestive system disease Esophageal Stenosis MESH:D004940 A stricture of the ESOPHAGUS. Most are acquired but can be congenital. MESH:D004935 C06.405.117.544 C06.405.117 Esophageal Stenoses|Esophageal Stricture|Stenosis, Esophageal|Stricture, Esophageal Digestive system disease Esophagitis MESH:D004941 DO:DOID:11963 INFLAMMATION, acute or chronic, of the ESOPHAGUS caused by BACTERIA, chemicals, or TRAUMA. MESH:D004935|MESH:D005759 C06.405.117.620|C06.405.205.663 C06.405.117|C06.405.205 Esophagitides Digestive system disease Esophagitis, Peptic MESH:D004942 DO:DOID:13976 INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM. MESH:D004941|MESH:D010437 C06.405.117.620.420|C06.405.205.663.420|C06.405.469.275.800.523|C06.405.748.586.524 C06.405.117.620|C06.405.205.663|C06.405.469.275.800|C06.405.748.586 Esophagitides, Peptic|Esophagitides, Reflux|Esophagitis, Reflux|Peptic Esophagitides|Peptic Esophagitis|Reflux Esophagitides|Reflux Esophagitis Digestive system disease Esotropia MESH:D004948 DO:DOID:10293|DO:DOID:9840 A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze. MESH:D013285 C10.292.562.887.300|C11.590.810.400 C10.292.562.887|C11.590.810 Convergent Strabismus|Cross Eye|Cross-Eye|Cross-Eyes|Esodeviation|Esodeviations|Esophoria|Esophorias|Esotropia, Intermittent|Esotropia, Monocular|Esotropia, Primary|Esotropias|Esotropia, Secondary|Intermittent Esotropia|Intermittent Esotropias|Internal Strabismus|Monocular Esotropia|Monocular Esotropias|Primary Esotropia|Primary Esotropias|Secondary Esotropia|Secondary Esotropias|Strabismus, Convergent|Strabismus, Internal Eye disease|Nervous system disease Essential Hypertension MESH:D000075222 DO:DOID:10825|OMIM:145500|OMIM:603918|OMIM:604329|OMIM:607329|OMIM:608742|OMIM:610261|OMIM:610262|OMIM:610948|OMIM:611014 Hypertension that occurs without known cause, or preexisting renal disease. Associated polymorphisms for a number of genes have been identified, including AGT, GNB3, and ECE1. OMIM: 145500 MESH:D006973 C14.907.489.165 C14.907.489 EHT|Hypertension, Essential|HYPERTENSION, ESSENTIAL, BODY MASS-RELATED|HYPERTENSION, ESSENTIAL, KIDNEY FUNCTION-RELATED|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 5|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 6|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7|HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8|Hypertension, Primary|Hypertensions, Primary|HYT1|HYT2|HYT3|HYT4|HYT5|HYT6|HYT7|HYT8|Primary Hypertension|Primary Hypertensions Cardiovascular disease Essential Tremor MESH:D020329 DO:DOID:4990 A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10) MESH:D009069 C10.228.662.350 C10.228.662 Benign Essential Tremor|Benign Essential Tremors|Essential Tremor, Benign|Essential Tremors|Essential Tremors, Benign|Familial Tremor|Familial Tremors|Hereditary Essential Tremor|Tremor, Benign Essential|Tremor, Essential|Tremor, Familial|Tremors, Benign Essential|Tremors, Essential|Tremors, Familial Nervous system disease Esthesioneuroblastoma, Olfactory MESH:D018304 DO:DOID:369 A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. It is uncommon (3% of nasal tumors) and rarely is associated with the production of excess hormones (e.g., SIADH, Cushing Syndrome). It has a high propensity for multiple local recurrences and bony metastases. (From Holland et al., Cancer Medicine, 3rd ed, p1245; J Laryngol Otol 1998 Jul;112(7):628-33) MESH:D009447|MESH:D020431 C04.557.465.625.600.590.650.550.150|C04.557.470.670.590.650.550.150|C04.557.580.625.600.590.650.550.150|C10.292.650.200 C04.557.465.625.600.590.650.550|C04.557.470.670.590.650.550|C04.557.580.625.600.590.650.550|C10.292.650 Aesthesioneuroblastoma|Aesthesioneuroblastomas|Esthesioneuroblastoma|Esthesioneuroblastoma, Paranasal Sinus Nasal Cavity|Esthesioneuroblastoma, Paranasal Sinus-Nasal Cavity|Esthesioneuroblastomas|Esthesioneuroblastomas, Olfactory|Neuroblastoma, Olfactory|Neuroblastomas, Olfactory|Olfactory Esthesioneuroblastoma|Olfactory Esthesioneuroblastomas|Olfactory Neuroblastoma|Olfactory Neuroblastomas|Paranasal Sinus Nasal Cavity Esthesioneuroblastoma|Paranasal Sinus-Nasal Cavity Esthesioneuroblastoma Cancer|Nervous system disease Estren-Dameshek Variant of Fanconi Anemia MESH:C565572 MESH:D005199 C15.378.071.085.080.280/C565572|C15.378.190.223.500.500.280/C565572|C16.320.077.280/C565572|C18.452.284.280/C565572 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 Fanconi Anemia, Estren-Dameshek Variant Blood disease|Genetic disease (inborn)|Metabolic disease Estren-Dameshek Variant of Fanconi Pancytopenia MESH:C565573 MESH:D005199 C15.378.071.085.080.280/C565573|C15.378.190.223.500.500.280/C565573|C16.320.077.280/C565573|C18.452.284.280/C565573 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 Blood disease|Genetic disease (inborn)|Metabolic disease Ethanolaminosis MESH:C562651 MESH:D001928|MESH:D006332|MESH:D008661|MESH:D009123 C10.228.140.163/C562651|C10.597.613.575/C562651|C14.280.195/C562651|C16.320.565/C562651|C18.452.132/C562651|C18.452.648/C562651|C23.300.775.250/C562651|C23.888.592.608.575/C562651 C10.228.140.163|C10.597.613.575|C14.280.195|C16.320.565|C18.452.132|C18.452.648|C23.300.775.250|C23.888.592.608.575 Ethanolamine Kinase Deficiency Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Ethmoid Sinusitis MESH:D015521 DO:DOID:9507 Inflammation of the NASAL MUCOSA in the ETHMOID SINUS. It may present itself as an acute (infectious) or chronic (allergic) condition. MESH:D012852 C01.748.749.267|C08.460.692.752.267|C08.730.749.267|C09.603.692.752.267 C01.748.749|C08.460.692.752|C08.730.749|C09.603.692.752 Ethmoidal Sinusitides|Ethmoidal Sinusitis|Ethmoid Sinusitides|Sinusitides, Ethmoid|Sinusitides, Ethmoidal|Sinusitis, Ethmoid|Sinusitis, Ethmoidal Ear-nose-throat disease|Respiratory tract disease Ethylmalonic encephalopathy MESH:C535737 DO:DOID:0060640|OMIM:602473 MESH:D011693|MESH:D020739 C10.228.140.163.100/C535737|C15.378.100.802/C535737|C16.320.565.189/C535737|C18.452.132.100/C535737|C18.452.648.189/C535737|C23.550.414.950/C535737|C23.888.885.687/C535737 C10.228.140.163.100|C15.378.100.802|C16.320.565.189|C18.452.132.100|C18.452.648.189|C23.550.414.950|C23.888.885.687 EE|Encephalopathy, ethylmalonic|Encephalopathy, Petechiae, and Ethylmalonic Aciduria|Epema Syndrome|Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria Blood disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms Euglenozoa Infections MESH:D056986 Infections with the protozoa of the phylum EUGLENOZOA. MESH:D011528 C01.610.752.300 C01.610.752 Euglenozoa Infection|Infection, Euglenozoa|Infections, Euglenozoa Parasitic disease Euhidrotic ectodermal dysplasia MESH:C535763 MESH:D004476|MESH:D006956|MESH:D014071 C07.650.800/C535763|C07.793.700/C535763|C11.744.479/C535763|C16.131.077.350/C535763|C16.131.831.350/C535763|C16.131.850.800/C535763|C16.320.850.250/C535763|C17.800.804.350/C535763|C17.800.827.250/C535763 C07.650.800|C07.793.700|C11.744.479|C16.131.077.350|C16.131.831.350|C16.131.850.800|C16.320.850.250|C17.800.804.350|C17.800.827.250 Kopysc Barczyk Krol syndrome|Pilodental dysplasia with refractive errors|Trichodental dysplasia with hyperopia Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Skin disease Eunuchism MESH:D005058 DO:DOID:5003 The state of being a eunuch, a male without TESTES or whose testes failed to develop. It is characterized by the lack of mature male GERM CELLS and TESTICULAR HORMONES. MESH:D007006 C19.391.482.293 C19.391.482 Eunuchoidism|Hypogonadism, Male Endocrine system disease Eunuchoidism, familial hypogonadotropic MESH:C535764 OMIM:614841 MESH:D005058 C19.391.482.293/C535764 C19.391.482.293 EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC|FIGD|Gonadotropin deficiency, familial idiopathic|HH12|HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA Endocrine system disease Euthyroid Goiter MESH:C562732 MESH:D006044 C19.874.283.501/C562732 C19.874.283.501 Goiter, multinodular 1, with or without sertoli-leydig cell tumors|Goiter, nontoxic, with intrathyroidal calcification|Multinodular goiter, adolescent|Simple goiter Endocrine system disease Euthyroid Sick Syndromes MESH:D005067 DO:DOID:2856 Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased. MESH:D013959 C19.874.255 C19.874 Euthyroid Sick Syndrome|High T4 Syndrome|High T4 Syndromes|Low T3 and Low T4 Syndrome|Low T3 High T4 Syndrome|Low T3-High T4 Syndrome|Low T3 Low T4 Syndrome|Low T3-Low T4 Syndrome|Low T3 Syndrome|Non Thyroidal Illness Syndrome|Non-Thyroidal Illness Syndrome|Sick Euthyroid Syndrome|Syndrome, Non-Thyroidal Illness|Syndrome, Sick Euthyroid|Syndromes, Non-Thyroidal Illness Endocrine system disease Evans Syndrome MESH:C536380 DO:DOID:8931 MESH:D000744|MESH:D013921 C15.378.071.141.125/C536380|C15.378.140.855/C536380|C20.111.175/C536380 C15.378.071.141.125|C15.378.140.855|C20.111.175 Autoimmune hemolytic anemia and autoimmune thrombocytopenia|Evans' Syndrome Blood disease|Immune system disease EVEN-PLUS SYNDROME OMIM:616854 MESH:D000015|MESH:D001848|MESH:D019465|MESH:D065817 C05.116.099/616854|C05.660.207/616854|C09.218.235/616854|C16.131.077/616854|C16.131.287/616854|C16.131.621.207/616854 C05.116.099|C05.660.207|C09.218.235|C16.131.077|C16.131.287|C16.131.621.207 EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS|EVPLS Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease Exanthema MESH:D005076 DO:DOID:0050486 Diseases in which skin eruptions or rashes are a prominent manifestation. Classically, six such diseases were described with similar rashes; they were numbered in the order in which they were reported. Only the fourth (Duke's disease), fifth (ERYTHEMA INFECTIOSUM), and sixth (EXANTHEMA SUBITUM) numeric designations survive as occasional synonyms in current terminology. MESH:D012871 C17.800.257 C17.800 Exanthem|Rash|Rash, Skin|Skin Rash Skin disease Exanthema Subitum MESH:D005077 DO:DOID:0050495 An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed) MESH:D005076|MESH:D017193|MESH:D019349 C01.925.256.466.850.290|C01.925.825.290|C17.800.257.335|C17.800.838.790.290 C01.925.256.466.850|C01.925.825|C17.800.257|C17.800.838.790 Disease, Sixth|Roseola Infantum|Sixth Disease Skin disease|Viral disease Exchondrosis Of Pinna, Posterior MESH:C565036 MESH:D019465 C05.660.207/C565036|C16.131.621.207/C565036 C05.660.207|C16.131.621.207 Ear Bump Congenital abnormality|Musculoskeletal disease Exercise-Induced Allergies MESH:D000092202 Allergic reactions following a period of exercise. Elevated serum HISTAMINE and TRYPTASE levels and cutaneous MAST CELL degranulation are often associated with post-exertional allergic reactions which sometimes are triggered only in combination with prior consumption of a specific food such as wheat. Allergic symptoms produced post-exercise range from skin eruption, asthma, bronchospasm, and anaphylaxis. MESH:D006969 C20.543.480.363 C20.543.480 Allergic Reaction, Post-Exertional|Allergic Reactions, Post-Exertional|Allergy, Exercise-Induced|Allergy, Food-Dependent Exercise-Induced|Anaphylaxis, Exercise-Induced|Anaphylaxis, Wheat-Dependent Exercise-Induced|Exercise Induced Allergies|Exercise-Induced Allergy|Exercise-Induced Allergy, Food-Dependent|Exercise Induced Anaphylaxis|Exercise-Induced Anaphylaxis|Exercise Induced Anaphylaxis and Urticaria|Exercise-Induced Anaphylaxis and Urticaria|Exercise-Induced Anaphylaxis, Wheat-Dependent|Exercise-Induced Anaphylaxi, Wheat-Dependent|Exercise Induced Urticaria|Exercise-Induced Urticaria|Exercise-Induced Urticarias|Food Dependent Exercise Induced Allergies|Food-Dependent Exercise-Induced Allergies|Food-Dependent Exercise-Induced Allergy|Post-Exertional Allergic Reaction|Post Exertional Allergic Reactions|Post-Exertional Allergic Reactions|Urticaria, Exercise-Induced|WDEIA|Wheat Dependent Exercise Induced Anaphylaxis|Wheat-Dependent Exercise-Induced Anaphylaxis Immune system disease Exfoliation Syndrome MESH:D017889 DO:DOID:13641|OMIM:177650 The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380) MESH:D007499 C11.941.375.285 C11.941.375 Exfoliation Glaucoma|Exfoliation Syndromes|Exfoliative Syndrome|Exfoliative Syndromes|Glaucoma Capsulare|PEXG|PEXS|PSEUDOEXFOLIATION GLAUCOMA|Pseudoexfoliation Of The Lens|Pseudoexfoliation Syndrome|Pseudo Exfoliation Syndrome|Pseudo-Exfoliation Syndrome|Pseudoexfoliation Syndromes|Pseudo-Exfoliation Syndromes|Syndrome, Exfoliation|Syndrome, Exfoliative|Syndrome, Pseudoexfoliation|Syndrome, Pseudo-Exfoliation|Syndromes, Exfoliation|Syndromes, Exfoliative|Syndromes, Pseudoexfoliation|Syndromes, Pseudo-Exfoliation|XFG|XFS Eye disease Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like MESH:C564309 OMIM:607936 MESH:D012873 C16.320.850/C564309|C17.800.827/C564309 C16.320.850|C17.800.827 AREI|Exfoliative Ichthyosis, Autosomal Recessive, IBS-Like|ICHTHYOSIS BULLOSA OF SIEMENS-LIKE|ICHTHYOSIS, EXFOLIATIVE, AUTOSOMAL RECESSIVE|PEELING SKIN SYNDROME 4|PSS4 Genetic disease (inborn)|Skin disease Exhibitionism MESH:D005084 DO:DOID:10236 A disorder in which fantasies about or the act of exposing the genitals to an unsuspecting stranger produces sexual excitement with no attempt at further sexual activity with the stranger. MESH:D010262 F03.657.300 F03.657 Exhibitionisms Mental disorder Exocrine Pancreatic Insufficiency MESH:D010188 DO:DOID:13316 A malabsorption condition resulting from greater than 10% reduction in the secretion of pancreatic digestive enzymes (LIPASE; PROTEASES; and AMYLASE) by the EXOCRINE PANCREAS into the DUODENUM. This condition is often associated with CYSTIC FIBROSIS and with chronic PANCREATITIS. MESH:D010182 C06.689.276 C06.689 Exocrine Pancreatic Insufficiencies|Insufficiencies, Exocrine Pancreatic|Insufficiencies, Pancreatic|Insufficiency, Exocrine Pancreatic|Insufficiency, Pancreatic|Pancreatic Insufficiencies|Pancreatic Insufficiencies, Exocrine|Pancreatic Insufficiency|Pancreatic Insufficiency, Exocrine Digestive system disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis MESH:C567195 OMIM:612714 MESH:D000742|MESH:D010188|MESH:D015576|MESH:D019465 C05.116.540/C567195|C05.660.207/C567195|C06.689.276/C567195|C15.378.071.141.150.095/C567195|C16.131.621.207/C567195|C16.320.070.095/C567195 C05.116.540|C05.660.207|C06.689.276|C15.378.071.141.150.095|C16.131.621.207|C16.320.070.095 Blood disease|Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Musculoskeletal disease Exophthalmos MESH:D005094 Abnormal protrusion of both eyes; may be caused by endocrine gland malfunction, malignancy, injury, or paralysis of the extrinsic muscles of the eye. MESH:D009916 C11.675.349 C11.675 Proptoses|Proptosis Eye disease Exostoses MESH:D005096 DO:DOID:203 Benign hypertrophy that projects outward from the surface of bone, often containing a cartilaginous component. MESH:D015576 C05.116.540.310 C05.116.540 Exostosis Musculoskeletal disease Exostoses, Multiple Hereditary MESH:D005097 DO:DOID:206 Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. MESH:D005096|MESH:D009386|MESH:D018216 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708.670.615.325|C05.116.540.310.500|C16.320.700.330 C04.557.450.565.575.610.615|C04.700|C05.116.099.708.670.615|C05.116.540.310|C16.320.700 Aclases, Diaphyseal|Aclasis, Diaphyseal|Bessel-Hagen Disease|Cartilaginous Exostoses, Multiple|Cartilaginous Exostosis, Multiple|Chondrodysplasia, Hereditary Deforming|Chondrodysplasias, Hereditary Deforming|Deforming Chondrodysplasia, Hereditary|Deforming Chondrodysplasias, Hereditary|Diaphyseal Aclases|Diaphyseal Aclasis|Exostoses, Familial|Exostoses, Hereditary Multiple|Exostoses, Multiple|Exostoses, Multiple Cartilaginous|Exostoses, Multiple, Type I|Exostosis, Familial|Exostosis, Hereditary Multiple|Exostosis, Multiple|Exostosis, Multiple Cartilaginous|Familial Exostoses|Familial Exostosis|Hereditary Deforming Chondrodysplasia|Hereditary Deforming Chondrodysplasias|Hereditary Exostoses, Multiple|Hereditary Multiple Exostoses|Hereditary Multiple Exostosis|Multiple Cartilaginous Exostoses|Multiple Cartilaginous Exostosis|Multiple Exostoses|Multiple Exostoses, Hereditary|Multiple Exostosis|Multiple Exostosis, Hereditary|Multiple Hereditary Exostoses|Multiple Osteochondroma|Multiple Osteochondromas|Multiple Osteochondromatosis|Osteochondroma, Multiple|Osteochondromas, Multiple Cancer|Genetic disease (inborn)|Musculoskeletal disease EXOSTOSES, MULTIPLE, TYPE I OMIM:133700 DO:DOID:206 MESH:D005097 C04.557.450.565.575.610.615.325/133700|C04.700.330/133700|C05.116.099.708.670.615.325/133700|C05.116.540.310.500/133700|C16.320.700.330/133700 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708.670.615.325|C05.116.540.310.500|C16.320.700.330 DIAPHYSEAL ACLASIS|EXT|EXT1|MULTIPLE CARTILAGINOUS EXOSTOSES|MULTIPLE OSTEOCHONDROMAS|OSTEOCHONDROMATOSIS Cancer|Genetic disease (inborn)|Musculoskeletal disease EXOSTOSES, MULTIPLE, TYPE II OMIM:133701 DO:DOID:206 MESH:D005097 C04.557.450.565.575.610.615.325/133701|C04.700.330/133701|C05.116.099.708.670.615.325/133701|C05.116.540.310.500/133701|C16.320.700.330/133701 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708.670.615.325|C05.116.540.310.500|C16.320.700.330 EXT2 Cancer|Genetic disease (inborn)|Musculoskeletal disease Exostoses, Multiple, Type III MESH:C563975 OMIM:600209 MESH:D005097 C04.557.450.565.575.610.615.325/C563975|C04.700.330/C563975|C05.116.099.708.670.615.325/C563975|C05.116.540.310.500/C563975|C16.320.700.330/C563975 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708.670.615.325|C05.116.540.310.500|C16.320.700.330 EXT3 Cancer|Genetic disease (inborn)|Musculoskeletal disease Exostoses Of Heel MESH:C563167 MESH:D005097 C04.557.450.565.575.610.615.325/C563167|C04.700.330/C563167|C05.116.099.708.670.615.325/C563167|C05.116.540.310.500/C563167|C16.320.700.330/C563167 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708.670.615.325|C05.116.540.310.500|C16.320.700.330 Cancer|Genetic disease (inborn)|Musculoskeletal disease Exostoses with Anetodermia and Brachydactyly, Type E MESH:C565034 MESH:D005096|MESH:D057088|MESH:D059327 C05.116.540.310/C565034|C05.660.585.262/C565034|C16.131.621.585.262/C565034|C17.300.116/C565034|C17.800.804.108/C565034 C05.116.540.310|C05.660.585.262|C16.131.621.585.262|C17.300.116|C17.800.804.108 Congenital abnormality|Connective tissue disease|Musculoskeletal disease|Skin disease Exotropia MESH:D005099 DO:DOID:1142|DO:DOID:1143|DO:DOID:11853 A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction. MESH:D013285 C10.292.562.887.650|C11.590.810.440 C10.292.562.887|C11.590.810 Alternating Exotropia|Divergent Strabismus|Exodeviation|Exodeviations|Exophoria|Exotropia, Alternating|Exotropia, Monocular|Exotropia, Primary|Exotropia, Secondary|Monocular Exotropia|Primary Exotropia|Secondary Exotropia|Strabismus, Divergent Eye disease|Nervous system disease Expansile Bone Lesions MESH:C566375 MESH:D001847 C05.116/C566375 C05.116 Musculoskeletal disease Exsanguination MESH:D058734 Rapid and extreme blood loss leading to HEMORRHAGIC SHOCK. MESH:D006470 C23.550.414.734 C23.550.414 Exsanguinating Hemorrhage|Exsanguinating Hemorrhages|Hemorrhage, Exsanguinating|Hemorrhages, Exsanguinating Pathology (process) Exserohilum infection MESH:C000656907 MESH:D000072742 C01.150.703.492/C000656907 C01.150.703.492 Exserohilum infections|Exserohilum rostratum infection|Exserohilum rostratum infections Bacterial infection or mycosis Extensively Drug-Resistant Tuberculosis MESH:D054908 Tuberculosis resistant to ISONIAZID and RIFAMPIN and at least three of the six main classes of second-line drugs (AMINOGLYCOSIDES; polypeptide agents; FLUOROQUINOLONES; THIOAMIDES; CYCLOSERINE; and PARA-AMINOSALICYLIC ACID) as defined by the CDC. MESH:D018088 C01.150.252.410.040.552.846.775.500 C01.150.252.410.040.552.846.775 Drug-Resistant Tuberculoses, Extensively|Drug-Resistant Tuberculoses, Extremely|Drug-Resistant Tuberculosis, Extensively|Drug-Resistant Tuberculosis, Extremely|Extensively Drug-Resistant Tuberculoses|Extensively Drug Resistant Tuberculosis|Extremely Drug-Resistant Tuberculoses|Extremely Drug Resistant Tuberculosis|Extremely Drug-Resistant Tuberculosis|Tuberculoses, Extensively Drug-Resistant|Tuberculoses, Extremely Drug-Resistant|Tuberculosis, Extensively Drug Resistant|Tuberculosis, Extensively Drug-Resistant|Tuberculosis, Extremely Drug Resistant|Tuberculosis, Extremely Drug-Resistant|XDR-TB Bacterial infection or mycosis External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus MESH:C566245 MESH:D000015 C16.131.077/C566245 C16.131.077 Atresia of External Auditory Canal and Conduction Deafness Congenital abnormality external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation MESH:C566509 MESH:D000093922|MESH:D009886|MESH:D012021|MESH:D017496 C10.292.562.700.375/C566509|C10.292.562.750/C566509|C10.500.198/C566509|C10.597.622.447/C566509|C10.597.704/C566509|C11.590.436.400/C566509|C11.590.472/C566509|C16.131.666.198/C566509|C17.800.621.440/C566509|C23.888.592.636.447/C566509|C23.888.592.717/C566509 C10.292.562.700.375|C10.292.562.750|C10.500.198|C10.597.622.447|C10.597.704|C11.590.436.400|C11.590.472|C16.131.666.198|C17.800.621.440|C23.888.592.636.447|C23.888.592.717 Congenital abnormality|Eye disease|Nervous system disease|Signs and symptoms|Skin disease Extranodal Extension MESH:D000079822 A penetration of LYMPH NODE metastatic cells through the nodal capsule into the perinodal fatty tissue used in a TUMOR STAGING system (the TNM staging system). MESH:D009362 C04.697.650.280|C23.550.727.650.280 C04.697.650|C23.550.727.650 Extracapsular Extension|Extranodal Tumor Deposit|Extranodal Tumor Deposits|Tumor Deposit|Tumor Deposit, Extranodal|Tumor Deposits Cancer|Pathology (process) Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly MESH:C565032 MESH:D005117|MESH:D006130|MESH:D008831|MESH:D017495 C05.660.207.620/C565032|C10.500.507.400.500/C565032|C14.280.067.325/C565032|C14.280.123.375/C565032|C16.131.621.207.620/C565032|C16.131.666.507.400.500/C565032|C17.800.621.430/C565032|C23.550.073.325/C565032|C23.550.393/C565032 C05.660.207.620|C10.500.507.400.500|C14.280.067.325|C14.280.123.375|C16.131.621.207.620|C16.131.666.507.400.500|C17.800.621.430|C23.550.073.325|C23.550.393 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Skin disease Extravasation of Diagnostic and Therapeutic Materials MESH:D005119 The escape of diagnostic or therapeutic material from the vessel into which it is introduced into the surrounding tissue or body cavity. MESH:D010335|MESH:D014947 C23.550.340|C26.371 C23.550|C26 Contrast Media Extravasation|Extravasation of Contrast Media|Extravasation of Diagnostic, Therapeutic Materials Pathology (process)|Wounds and injuries Exudative vitreoretinopathy 1 MESH:C536382 DO:DOID:0111412|OMIM:133780 MESH:D000080345 C11.250.345/C536382|C11.270.238/C536382|C11.768.337/C536382|C16.131.384.424/C536382|C16.320.290.352/C536382 C11.250.345|C11.270.238|C11.768.337|C16.131.384.424|C16.320.290.352 Criswick-Schepens syndrome|CRISWICK-SCHEPENS SYNDROME RETINOPATHY OF PREMATURITY, INCLUDED|EVR1|Exudative vitreoretinopathy, familial, autosomal dominant|FEVR, Autosomal Dominant|ROP, INCLUDED Congenital abnormality|Eye disease|Genetic disease (inborn) EXUDATIVE VITREORETINOPATHY 2, X-LINKED OMIM:305390 DO:DOID:0111413 MESH:D018630 C11.768.890/305390 C11.768.890 EVR2|EVRX|EXUDATIVE VITREORETINOPATHY, FAMILIAL, 2|FEVRX|FEVR, X-LINKED Eye disease Exudative Vitreoretinopathy 3 MESH:C565297 DO:DOID:0111409|OMIM:605750 MESH:D000080345 C11.250.345/C565297|C11.270.238/C565297|C11.768.337/C565297|C16.131.384.424/C565297|C16.320.290.352/C565297 C11.250.345|C11.270.238|C11.768.337|C16.131.384.424|C16.320.290.352 EVR3 Congenital abnormality|Eye disease|Genetic disease (inborn) Exudative Vitreoretinopathy 4 MESH:C566619 DO:DOID:0111411|OMIM:601813 MESH:D000080345 C11.250.345/C566619|C11.270.238/C566619|C11.768.337/C566619|C16.131.384.424/C566619|C16.320.290.352/C566619 C11.250.345|C11.270.238|C11.768.337|C16.131.384.424|C16.320.290.352 Evr4 Congenital abnormality|Eye disease|Genetic disease (inborn) Exudative Vitreoretinopathy 5 MESH:C567648 DO:DOID:0111408|OMIM:613310 MESH:D000080345 C11.250.345/C567648|C11.270.238/C567648|C11.768.337/C567648|C16.131.384.424/C567648|C16.320.290.352/C567648 C11.250.345|C11.270.238|C11.768.337|C16.131.384.424|C16.320.290.352 EVR5 Congenital abnormality|Eye disease|Genetic disease (inborn) EXUDATIVE VITREORETINOPATHY 6 OMIM:616468 DO:DOID:0111410 MESH:D012164 C11.768/616468 C11.768 EVR6 Eye disease Exudative Vitreoretinopathy, Familial, X-Linked Recessive MESH:C564428 MESH:D000080345|MESH:D040181 C11.250.345/C564428|C11.270.238/C564428|C11.768.337/C564428|C16.131.384.424/C564428|C16.320.290.352/C564428|C16.320.322/C564428 C11.250.345|C11.270.238|C11.768.337|C16.131.384.424|C16.320.290.352|C16.320.322 Exudative Vitreoretinopathy, Familial, 2|FEVRX|FEVR, X-Linked Congenital abnormality|Eye disease|Genetic disease (inborn) Eye Abnormalities MESH:D005124 Congenital absence of or defects in structures of the eye; may also be hereditary. MESH:D000013|MESH:D005128 C11.250|C16.131.384 C11|C16.131 Abnormalities, Eye|Abnormality, Eye|Eye Abnormality Congenital abnormality|Eye disease Eyebrows duplication of, with stretchable skin and syndactyly MESH:C536383 MESH:D012871|MESH:D013576 C05.116.099.370.894.819/C536383|C05.660.585.800/C536383|C05.660.906.819/C536383|C16.131.621.585.800/C536383|C16.131.621.906.819/C536383|C17.800/C536383 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819|C17.800 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly Congenital abnormality|Musculoskeletal disease|Skin disease Eye Burns MESH:D005126 Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation. MESH:D002056|MESH:D005131 C10.900.300.284.250.250|C26.200.503|C26.915.300.425.250.250 C10.900.300.284.250|C26.200|C26.915.300.425.250 Burn, Eye|Burns, Eye|Eye Burn Nervous system disease|Wounds and injuries Eye Diseases MESH:D005128 DO:DOID:0070356|DO:DOID:5614 Diseases affecting the eye. MESH:C C11 C Eye Disease|Eye Disorder|Eye Disorders Eye disease Eye Diseases, Hereditary MESH:D015785 Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. MESH:D005128|MESH:D030342 C11.270|C16.320.290 C11|C16.320 Eye Disease, Hereditary|Hereditary Eye Disease|Hereditary Eye Diseases Eye disease|Genetic disease (inborn) Eye Foreign Bodies MESH:D005129 Inanimate objects that become enclosed in the eye. MESH:D005131|MESH:D005547 C10.900.300.284.250.260|C26.392.421|C26.915.300.425.250.260 C10.900.300.284.250|C26.392|C26.915.300.425.250 Eye Foreign Body|Eye Foreign Object|Eye Foreign Objects|Foreign Bodies, Eye|Foreign Body, Eye|Foreign Object, Eye|Foreign Objects, Eye Nervous system disease|Wounds and injuries Eye Hemorrhage MESH:D005130 Intraocular hemorrhage from the vessels of various tissues of the eye. MESH:D005128|MESH:D005132|MESH:D006470 C11.290|C23.550.414.756|C23.888.307.500 C11|C23.550.414|C23.888.307 Eye Hemorrhages|Hemophthalmos|Hemorrhage, Eye Eye disease|Pathology (process)|Signs and symptoms Eye Infections MESH:D015817 Infection, moderate to severe, caused by bacteria, fungi, or viruses, which occurs either on the external surface of the eye or intraocularly with probable inflammation, visual impairment, or blindness. MESH:D005128|MESH:D007239 C01.375|C11.294 C01|C11 Eye Infection|Infection, Eye|Infection, Ocular|Infections, Eye|Infections, Ocular|Ocular Infection|Ocular Infections Eye disease Eye Infections, Bacterial MESH:D015818 Infections in the inner or external eye caused by microorganisms belonging to several families of bacteria. Some of the more common genera found are Haemophilus, Neisseria, Staphylococcus, Streptococcus, and Chlamydia. MESH:D001424|MESH:D015817 C01.150.252.289|C01.375.354|C11.294.354 C01.150.252|C01.375|C11.294 Bacterial Eye Infection|Bacterial Eye Infections|Bacterial Ocular Infection|Bacterial Ocular Infections|Eye Infection, Bacterial|Infection, Bacterial Eye|Infections, Bacterial Eye|Infections, Bacterial Ocular|Ocular Infection, Bacterial|Ocular Infections, Bacterial Bacterial infection or mycosis|Eye disease Eye Infections, Fungal MESH:D015821 Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses. MESH:D009181|MESH:D015817 C01.150.703.320|C01.375.450|C11.294.450 C01.150.703|C01.375|C11.294 Eye Infection, Fungal|Fungal Eye Infection|Fungal Eye Infections|Fungal Ocular Infection|Fungal Ocular Infections|Infection, Fungal Eye|Infection, Fungal Ocular|Infection, Ocular Mycotic|Infections, Fungal Eye|Infections, Fungal Ocular|Infections, Ocular Mycotic|Mycoses, Ocular|Mycosis, Ocular|Mycotic Infection, Ocular|Mycotic Infections, Ocular|Ocular Infection, Fungal|Ocular Infections, Fungal|Ocular Mycoses|Ocular Mycosis|Ocular Mycotic Infection|Ocular Mycotic Infections|Oculomycoses|Oculomycosis Bacterial infection or mycosis|Eye disease Eye Infections, Parasitic MESH:D015822 Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites. MESH:D010272|MESH:D015817 C01.610.300|C11.294.725 C01.610|C11.294 Eye Infection, Parasitic|Infection, Parasitic Eye|Infection, Parasitic Ocular|Infections, Parasitic Eye|Infections, Parasitic Ocular|Ocular Infection, Parasitic|Ocular Infections, Parasitic|Parasitic Eye Infection|Parasitic Eye Infections|Parasitic Ocular Infection|Parasitic Ocular Infections Eye disease|Parasitic disease Eye Infections, Viral MESH:D015828 Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus. MESH:D014777|MESH:D015817 C01.375.725|C01.925.325|C11.294.800 C01.375|C01.925|C11.294 Eye Infection, Viral|Infections, Viral Eye|Infections, Viral Ocular|Infection, Viral Eye|Infection, Viral Ocular|Ocular Infections, Viral|Ocular Infection, Viral|Viral Eye Infection|Viral Eye Infections|Viral Ocular Infection|Viral Ocular Infections Eye disease|Viral disease Eye Injuries MESH:D005131 Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries. MESH:D005128|MESH:D005151 C10.900.300.284.250|C11.297|C26.915.300.425.250 C10.900.300.284|C11|C26.915.300.425 Eye Injury|Injuries, Eye|Injury, Eye Eye disease|Nervous system disease|Wounds and injuries Eye Injuries, Penetrating MESH:D015807 Deeply perforating or puncturing type intraocular injuries. MESH:D005131|MESH:D014950 C10.900.300.284.250.270|C26.915.300.425.250.270|C26.986.450 C10.900.300.284.250|C26.915.300.425.250|C26.986 Eye Injury, Penetrating|Injuries, Penetrating Eye|Injury, Penetrating Eye|Penetrating Eye Injuries|Penetrating Eye Injury Nervous system disease|Wounds and injuries Eyelid Diseases MESH:D005141 DO:DOID:530 Diseases involving the EYELIDS. MESH:D005128 C11.338 C11 Disease, Eyelid|Diseases, Eyelid|Eyelid Disease Eye disease Eyelid Neoplasms MESH:D005142 DO:DOID:2173 Tumors of cancer of the EYELIDS. MESH:D005134|MESH:D005141|MESH:D005153 C04.588.443.392.500|C11.319.421|C11.338.526 C04.588.443.392|C11.319|C11.338 Eyelid Neoplasm|Neoplasm, Eyelid|Neoplasms, Eyelid Cancer|Eye disease Eye Manifestations MESH:D005132 Ocular disorders attendant upon non-ocular disease or injury. MESH:D005128|MESH:D012816 C11.300|C23.888.307 C11|C23.888 Eye Manifestation|Manifestation, Eye|Manifestations, Eye Eye disease|Signs and symptoms Eye Neoplasms MESH:D005134 DO:DOID:2174 Tumors or cancer of the EYE. MESH:D005128|MESH:D009371 C04.588.364|C11.319 C04.588|C11 Cancer, Eye|Cancer of Eye|Cancer of the Eye|Cancers, Eye|Eye Cancer|Eye Cancers|Eye Neoplasm|Neoplasm, Eye|Neoplasms, Eye Cancer|Eye disease Eye Pain MESH:D058447 A dull or sharp painful sensation associated with the outer or inner structures of the eyeball, having different causes. MESH:D005132|MESH:D010146 C11.300.500|C23.888.307.625|C23.888.592.612.316 C11.300|C23.888.307|C23.888.592.612 Eye Pains|Pain, Eye|Pains, Eye Eye disease|Signs and symptoms Fabry Disease MESH:D000795 DO:DOID:14499|OMIM:301500 An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. MESH:D013106|MESH:D040181|MESH:D059345 C10.228.140.163.100.435.825.200|C10.228.140.300.275.374|C14.907.253.329.374|C16.320.322.124|C16.320.565.189.435.825.200|C16.320.565.398.641.803.300|C16.320.565.595.554.825.200|C18.452.132.100.435.825.200|C18.452.584.563.641.803.300|C18.452.648.189.435.825.200|C18.452.648.398.641.803.300|C18.452.648.595.554.825.200 C10.228.140.163.100.435.825|C10.228.140.300.275|C14.907.253.329|C16.320.322|C16.320.565.189.435.825|C16.320.565.398.641.803|C16.320.565.595.554.825|C18.452.132.100.435.825|C18.452.584.563.641.803|C18.452.648.189.435.825|C18.452.648.398.641.803|C18.452.648.595.554.825 alpha Galactosidase A Deficiency|alpha-Galactosidase A Deficiency|alpha Galactosidase A Deficiency Disease|alpha-Galactosidase A Deficiency Disease|Anderson Fabry Disease|Anderson-Fabry Disease|Angiokeratoma Corporis Diffusum|Angiokeratoma Diffuse|Angiokeratoma, Diffuse|Ceramide Trihexosidase Deficiency|CERAMIDE TRIHEXOSIDASE DEFICIENCY FABRY DISEASE, CARDIAC VARIANT, INCLUDED|Deficiency, alpha-Galactosidase A|Deficiency, Ceramide Trihexosidase|Deficiency, GLA|Diffuse Angiokeratoma|Fabry's Disease|GLA Deficiency|Hereditary Dystopic Lipidosis|Lipidosis, Hereditary Dystopic Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Fabry Disease, Cardiac Variant MESH:C567062 MESH:D000795 C10.228.140.163.100.435.825.200/C567062|C10.228.140.300.275.374/C567062|C14.907.253.329.374/C567062|C16.320.322.124/C567062|C16.320.565.189.435.825.200/C567062|C16.320.565.398.641.803.300/C567062|C16.320.565.595.554.825.200/C567062|C18.452.132.100.435.825.200/C567062|C18.452.584.563.641.803.300/C567062|C18.452.648.189.435.825.200/C567062|C18.452.648.398.641.803.300/C567062|C18.452.648.595.554.825.200/C567062 C10.228.140.163.100.435.825.200|C10.228.140.300.275.374|C14.907.253.329.374|C16.320.322.124|C16.320.565.189.435.825.200|C16.320.565.398.641.803.300|C16.320.565.595.554.825.200|C18.452.132.100.435.825.200|C18.452.584.563.641.803.300|C18.452.648.189.435.825.200|C18.452.648.398.641.803.300|C18.452.648.595.554.825.200 Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease FACES syndrome MESH:C536384 MESH:D000855|MESH:D002100|MESH:D005124|MESH:D012871|MESH:D019066 C11.250/C536384|C16.131.384/C536384|C17.800/C536384|C23.550.291.812/C536384|C23.888.144.243.963.250/C536384|C23.888.144.828.250/C536384|C23.888.821.108/C536384 C11.250|C16.131.384|C17.800|C23.550.291.812|C23.888.144.243.963.250|C23.888.144.828.250|C23.888.821.108 Congenital abnormality|Eye disease|Pathology (process)|Signs and symptoms|Skin disease Facial Abnormalities, Kyphoscoliosis, and Mental Retardation MESH:C565580 MESH:D006972|MESH:D007738|MESH:D008607|MESH:D058627 C05.116.099.370.231.480/C565580|C05.116.900.800.500/C565580|C05.660.207.231.480/C565580|C05.660.207.536/C565580|C10.500.507.400.249/C565580|C10.597.606.360/C565580|C16.131.621.207.231.480/C565580|C16.131.621.207.532/C565580|C16.131.666.507.400.249/C565580|C23.888.592.604.646/C565580|F03.625.539/C565580 C05.116.099.370.231.480|C05.116.900.800.500|C05.660.207.231.480|C05.660.207.536|C10.500.507.400.249|C10.597.606.360|C16.131.621.207.231.480|C16.131.621.207.532|C16.131.666.507.400.249|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Facial Asymmetry MESH:D005146 Congenital or acquired asymmetry of the face. MESH:D020763 C23.300.505 C23.300 Asymmetries, Facial|Asymmetry, Facial|Facial Asymmetries Pathology (anatomical condition) Facial Dermatoses MESH:D005148 DO:DOID:3134 Skin diseases involving the FACE. MESH:D012871 C17.800.271 C17.800 Dermatoses, Facial|Dermatosis, Facial|Elastoidoses, Nodular|Elastoidosis, Nodular|Elastoses, Nodular|Elastosis, Nodular|Facial Dermatosis|Favre Racouchot Syndrome|Favre-Racouchot Syndrome|Nodular Elastoidoses|Nodular Elastoidosis|Nodular Elastoses|Nodular Elastosis|Syndrome, Favre-Racouchot Skin disease Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly MESH:C566524 MESH:D002972|MESH:D006228|MESH:D019465|MESH:D046089 C05.390.408/C566524|C05.500.460.185/C566524|C05.660.207.540.460.185/C566524|C05.660.207/C566524|C05.660.585.988.425/C566524|C07.320.440.185/C566524|C07.465.525.185/C566524|C07.650.500.460.185/C566524|C07.650.525.185/C566524|C09.218.458.341.849/C566524|C10.597.751.418.341.849/C566524|C16.131.621.207.540.460.185/C566524|C16.131.621.207/C566524|C16.131.621.585.988.500/C566524|C16.131.850.500.460.185/C566524|C16.131.850.525.185/C566524|C23.888.592.763.393.341.849/C566524 C05.390.408|C05.500.460.185|C05.660.207|C05.660.207.540.460.185|C05.660.585.988.425|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C09.218.458.341.849|C10.597.751.418.341.849|C16.131.621.207|C16.131.621.207.540.460.185|C16.131.621.585.988.500|C16.131.850.500.460.185|C16.131.850.525.185|C23.888.592.763.393.341.849 Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE OMIM:615139 MESH:D006130|MESH:D007153|MESH:D019465|MESH:D054068 C05.660.207/615139|C14.907.355.830.573.500/615139|C14.907.617.625/615139|C16.131.621.207/615139|C17.800.862.406.500/615139|C20.673/615139|C23.550.393/615139|C23.888.885.437/615139 C05.660.207|C14.907.355.830.573.500|C14.907.617.625|C16.131.621.207|C17.800.862.406.500|C20.673|C23.550.393|C23.888.885.437 FILS Cardiovascular disease|Congenital abnormality|Immune system disease|Musculoskeletal disease|Pathology (process)|Signs and symptoms|Skin disease Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification MESH:C567039 MESH:D002114|MESH:D014071|MESH:D019066 C07.650.800/C567039|C07.793.700/C567039|C16.131.850.800/C567039|C18.452.174.130/C567039|C23.550.291.812/C567039 C07.650.800|C07.793.700|C16.131.850.800|C18.452.174.130|C23.550.291.812 Congenital abnormality|Metabolic disease|Mouth disease|Pathology (process) Facial Dysmorphism with Multiple Malformations MESH:C565579 MESH:D000015|MESH:D009133|MESH:D019465 C05.660.207/C565579|C10.597.613.612/C565579|C16.131.077/C565579|C16.131.621.207/C565579|C23.300.070.500/C565579|C23.888.592.608.612/C565579 C05.660.207|C10.597.613.612|C16.131.077|C16.131.621.207|C23.300.070.500|C23.888.592.608.612 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Facial Hemiatrophy MESH:D005150 DO:DOID:1757 A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes. MESH:D005155|MESH:D009059 C07.465.284|C07.465.299.375|C10.292.319.375 C07.465|C07.465.299|C10.292.319 Atrophies, Hemifacial|Atrophies, Progressive Hemifacial|Atrophy, Hemifacial|Atrophy, Progressive Hemifacial|Atrophy, Romberg Hemi-Facial|Disease, Parry-Romberg|Disease, Romberg|Disease, Romberg's|Facial Hemiatrophies|Facial Hemiatrophies, Progressive|Facial Hemiatrophy of Romberg|Facial Hemiatrophy, Progressive|Hemiatrophies, Facial|Hemiatrophies, Progressive Facial|Hemiatrophy, Facial|Hemiatrophy, Progressive Facial|Hemifacial Atrophies|Hemifacial Atrophy|Hemifacial Atrophy, Progressive|Hemi-Facial Atrophy, Romberg|Parry Romberg Disease|Parry-Romberg Disease|Parry Romberg Syndrome|Parry-Romberg Syndrome|Progressive Facial Hemiatrophies|Progressive Facial Hemiatrophy|Progressive Hemifacial Atrophies|Progressive Hemifacial Atrophy|Romberg Disease|Romberg Facial Hemiatrophy|Romberg Hemi Facial Atrophy|Romberg Hemi-Facial Atrophy|Romberg's Disease|Rombergs Disease|Syndrome, Parry-Romberg Mouth disease|Nervous system disease Facial Hemihypertrophy MESH:C563014 MESH:D005146|MESH:D006965 C23.300.505/C563014|C23.550.444/C563014 C23.300.505|C23.550.444 Hemifacial Hyperplasia Pathology (anatomical condition)|Pathology (process) Facial Hypertrichosis MESH:C565029 MESH:D006983 C17.800.329.875/C565029 C17.800.329.875 Skin disease Facial Injuries MESH:D005151 General or unspecified injuries to the soft tissue or bony portions of the face. MESH:D006259 C10.900.300.284|C26.915.300.425 C10.900.300|C26.915.300 Facial Injury|Injuries, Facial|Injury, Facial Nervous system disease|Wounds and injuries Facial Neoplasms MESH:D005153 New abnormal growth of tissue in the FACE. MESH:D006258 C04.588.443.392 C04.588.443 Facial Neoplasm|Neoplasm, Facial|Neoplasms, Facial Cancer Facial Nerve Diseases MESH:D005155 DO:DOID:14075|DO:DOID:1756 Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. MESH:D003389|MESH:D009059 C07.465.299|C10.292.319 C07.465|C10.292 Acquired Facial Neuropathies|Acquired Facial Neuropathy|Cranial Nerve VII Diseases|Cranial Nerve VII Disorders|Disease, Facial Nerve|Diseases, Facial Nerve|Disorder, Facial Nerve|Disorders, Facial Nerve|Facial Myokymia|Facial Myokymias|Facial Nerve Disease|Facial Nerve Disorder|Facial Nerve Disorders|Facial Nerve Motor Disorders|Facial Nerve Sensory Disorders|Facial Neuritides|Facial Neuritis|Facial Neuropathies|Facial Neuropathies, Acquired|Facial Neuropathies, Familial|Facial Neuropathy|Facial Neuropathy, Acquired|Facial Neuropathy, Familial|Familial Facial Neuropathies|Familial Facial Neuropathy|Ganglionitides, Geniculate|Ganglionitis, Geniculate|Geniculate Ganglionitides|Geniculate Ganglionitis|Motor Disorders, Facial Nerve|Myokymia, Facial|Myokymias, Facial|Neuritides, Facial|Neuritis, Facial|Neuropathies, Facial|Neuropathies, Familial Facial|Neuropathy, Facial|Neuropathy, Familial Facial|Sensory Disorders, Facial Nerve|Seventh Cranial Nerve Diseases Mouth disease|Nervous system disease Facial Nerve Injuries MESH:D020220 Traumatic injuries to the facial nerve. This may result in FACIAL PARALYSIS, decreased lacrimation and salivation, and loss of taste sensation in the anterior tongue. The nerve may regenerate and reform its original pattern of innervation, or regenerate aberrantly, resulting in inappropriate lacrimation in response to gustatory stimuli (e.g., 'crocodile tears') and other syndromes. MESH:D005155|MESH:D020209 C07.465.299.500|C10.292.200.500|C10.292.319.500|C10.900.300.218.300|C26.915.300.400.300 C07.465.299|C10.292.200|C10.292.319|C10.900.300.218|C26.915.300.400 Avulsion, Facial Nerve|Cranial Nerve VII Injuries|Facial Nerve Avulsion|Facial Nerve Avulsions|Facial Nerve Injury|Facial Nerve Trauma|Facial Nerve Traumas|Facial Neuropathy, Traumatic|Injuries, Cranial Nerve VII|Injuries, Seventh Cranial Nerve|Injury, Facial Nerve|Marginal Mandibular Nerve Injuries|Marginal Mandibular Nerve Injury|Nerve Avulsion, Facial|Nerve Injury, Facial|Nerve Trauma, Facial|Neuropathy, Traumatic Facial|Seventh Cranial Nerve Injuries|Trauma, Facial Nerve|Traumatic Facial Neuropathies|Traumatic Facial Neuropathy Mouth disease|Nervous system disease|Wounds and injuries Facial Neuralgia MESH:D005156 DO:DOID:13865 Neuralgic syndromes which feature chronic or recurrent FACIAL PAIN as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions. MESH:D005155 C07.465.299.625|C10.292.319.625 C07.465.299|C10.292.319 Craniofacial Pain Syndrome|Craniofacial Pain Syndromes|Facial Neuralgias|Facial Pain Syndrome|Facial Pain Syndromes|Myofacial Pain Syndrome|Myofacial Pain Syndromes|Neuralgia, Facial|Neuralgias, Facial|Neuralgia, Sphenopalatine|Neuralgias, Sphenopalatine|Pain Syndrome, Craniofacial|Pain Syndrome, Facial|Pain Syndrome, Myofacial|Pain Syndromes, Craniofacial|Pain Syndromes, Facial|Pain Syndromes, Myofacial|Sphenopalatine Neuralgia|Sphenopalatine Neuralgias|Syndrome, Craniofacial Pain|Syndrome, Facial Pain|Syndrome, Myofacial Pain|Syndromes, Craniofacial Pain|Syndromes, Facial Pain|Syndromes, Myofacial Pain Mouth disease|Nervous system disease Facial Pain MESH:D005157 Pain in the facial region including orofacial pain and craniofacial pain. Associated conditions include local inflammatory and neoplastic disorders and neuralgic syndromes involving the trigeminal, facial, and glossopharyngeal nerves. Conditions which feature recurrent or persistent facial pain as the primary manifestation of disease are referred to as FACIAL PAIN SYNDROMES. MESH:D010146 C23.888.592.612.330 C23.888.592.612 Craniofacial Pain|Face Pain|Facial Pain, Neuralgic|Myofacial Pain|Neuralgic Facial Pain|Orofacial Pain|Pain, Craniofacial|Pain, Face|Pain, Facial|Pain, Myofacial|Pain, Neuralgic Facial|Pain, Orofacial Signs and symptoms Facial Palsy, Congenital, Unilateral Or Bilateral MESH:C563309 MESH:D005146|MESH:D005155|MESH:D005158 C07.465.299/C563309|C07.465.327/C563309|C10.292.319/C563309|C10.597.622.214/C563309|C23.300.505/C563309|C23.888.592.636.214/C563309 C07.465.299|C07.465.327|C10.292.319|C10.597.622.214|C23.300.505|C23.888.592.636.214 Mouth disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Facial Palsy, Familial Recurrent Peripheral MESH:C565028 MESH:D005158 C07.465.327/C565028|C10.597.622.214/C565028|C23.888.592.636.214/C565028 C07.465.327|C10.597.622.214|C23.888.592.636.214 Mouth disease|Nervous system disease|Signs and symptoms Facial Paralysis MESH:D005158 DO:DOID:13934 Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis. MESH:D009059|MESH:D010243 C07.465.327|C10.597.622.214|C23.888.592.636.214 C07.465|C10.597.622|C23.888.592.636 Central Facial Paralyses|Central Facial Paralysis|Facial Palsies|Facial Palsy|Facial Palsy, Lower Motor Neuron|Facial Palsy, Upper Motor Neuron|Facial Paralyses, Central|Facial Paralyses, Peripheral|Facial Paralysis, Central|Facial Paralysis, Peripheral|Facial Paresis|Hemifacial Paralysis|Lower Motor Neuron Facial Palsy|Palsies, Facial|Palsy, Facial|Paralyses, Central Facial|Paralyses, Facial|Paralyses, Hemifacial|Paralysis, Central Facial|Paralysis, Facial|Paralysis, Hemifacial|Paralysis, Peripheral Facial|Pareses, Facial|Paresis, Facial|Peripheral Facial Paralysis|Upper Motor Neuron Facial Palsy Mouth disease|Nervous system disease|Signs and symptoms Facial paresis, hereditary, congenital MESH:C536386 OMIM:601471|OMIM:604185|OMIM:614744 MESH:D005158 C07.465.327/C536386|C10.597.622.214/C536386|C23.888.592.636.214/C536386 C07.465.327|C10.597.622.214|C23.888.592.636.214 FACIAL PALSY, CONGENITAL, UNILATERAL OR BILATERAL|FACIAL PARESIS, HEREDITARY CONGENITAL, 1|FACIAL PARESIS, HEREDITARY CONGENITAL, 2|FACIAL PARESIS, HEREDITARY CONGENITAL, 3|HCFP1|HCFP2|HCFP3|MBS2, FORMERLY|MBS3, FORMERLY|MOBIUS SYNDROME 2, FORMERLY|MOBIUS SYNDROME 3, FORMERLY|MOEBIUS SYNDROME 2, FORMERLY|MOEBIUS SYNDROME 3, FORMERLY Mouth disease|Nervous system disease|Signs and symptoms Facies MESH:D019066 The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed) MESH:D020969 C23.550.291.812 C23.550.291 Pathology (process) Faciocardiomelic Dysplasia, Lethal MESH:C565578 MESH:D006330|MESH:D008865|MESH:D014071|MESH:D017880 C05.660.585/C565578|C07.465.525.520/C565578|C07.650.525.520/C565578|C07.650.800/C565578|C07.793.700/C565578|C14.240.400/C565578|C14.280.400/C565578|C16.131.240.400/C565578|C16.131.621.585/C565578|C16.131.850.525.520/C565578|C16.131.850.800/C565578 C05.660.585|C07.465.525.520|C07.650.525.520|C07.650.800|C07.793.700|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.585|C16.131.850.525.520|C16.131.850.800 Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease Faciocardiomelic Syndrome MESH:C567176 MESH:D006330|MESH:D008607|MESH:D019066|MESH:D019465 C05.660.207/C567176|C10.597.606.360/C567176|C14.240.400/C567176|C14.280.400/C567176|C16.131.240.400/C567176|C16.131.621.207/C567176|C23.550.291.812/C567176|C23.888.592.604.646/C567176|F03.625.539/C567176 C05.660.207|C10.597.606.360|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207|C23.550.291.812|C23.888.592.604.646|F03.625.539 Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Faciocardiorenal syndrome MESH:C536388 MESH:D002972|MESH:D006330 C05.500.460.185/C536388|C05.660.207.540.460.185/C536388|C07.320.440.185/C536388|C07.465.525.185/C536388|C07.650.500.460.185/C536388|C07.650.525.185/C536388|C14.240.400/C536388|C14.280.400/C536388|C16.131.240.400/C536388|C16.131.621.207.540.460.185/C536388|C16.131.850.500.460.185/C536388|C16.131.850.525.185/C536388 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185 Eastman Bixler syndrome Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder MESH:C564427 MESH:D000015|MESH:D001289|MESH:D038901 C10.597.606.360.455/C564427|C16.131.077/C564427|C16.320.322.500/C564427|C16.320.400.525/C564427|F03.625.094.150/C564427 C10.597.606.360.455|C16.131.077|C16.320.322.500|C16.320.400.525|F03.625.094.150 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease Faciomandibular myoclonus, nocturnal MESH:C536389 MESH:D020186 C07.793.099.500/C536389|C10.886.659.637/C536389|F03.870.664.637/C536389 C07.793.099.500|C10.886.659.637|F03.870.664.637 Nocturnal facio-mandibular myoclonus Mental disorder|Mouth disease|Nervous system disease Facioscapulohumeral muscular dystrophy 1a MESH:C536391 OMIM:158900 MESH:D020391 C05.651.534.500.400/C536391|C10.668.491.175.500.400/C536391|C16.320.577.400/C536391 C05.651.534.500.400|C10.668.491.175.500.400|C16.320.577.400 Facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles|FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES, INCLUDED|FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY|FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1|Facioscapulohumeral muscular dystrophy, infantile|FMD|FSHD|FSHD1|FSHD1A|FSHMD1A|Landouzy-dejerine muscular dystrophy|LANDOUZY-DEJERINE MUSCULAR DYSTROPHY FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED|MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1|Muscular dystrophy, facioscapulohumeral, type 1a Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Facioscapulohumeral Muscular Dystrophy 1B MESH:C563557 OMIM:158901 MESH:D020391 C05.651.534.500.400/C563557|C10.668.491.175.500.400/C563557|C16.320.577.400/C563557 C05.651.534.500.400|C10.668.491.175.500.400|C16.320.577.400 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC|FSHD1B|FSHD2|FSHD2, DIGENIC|FSHMD1B|Muscular Dystrophy, Facioscapulohumeral, Type 1B|MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 2 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Facio thoraco genital syndrome MESH:C536387 MESH:D000015 C16.131.077/C536387 C16.131.077 Congenital anomalies, involving mainly the face, thorax, and genitalia|Faciothoracogenital Syndrome Congenital abnormality Factitious Disorders MESH:D005162 Disorders characterized by physical or psychological symptoms that are not real, genuine, or natural. MESH:D013001 F03.875.375 F03.875 Disorders, Factitious|Ganser Syndrome|Pseudodementia|Pseudopsychosis|Syndrome, Ganser Mental disorder Factor 8 deficiency, acquired MESH:C536392 MESH:D006467 C15.378.100.100.500/C536392|C15.378.100.141.500/C536392|C15.378.463.500/C536392|C16.320.099.500/C536392 C15.378.100.100.500|C15.378.100.141.500|C15.378.463.500|C16.320.099.500 Factor VIII deficiency, acquired|Hemophilia A, acquired Blood disease|Genetic disease (inborn) Factors VIII, IX And XI, Combined Deficiency of MESH:C565023 MESH:D025861 C15.378.100.100/C565023|C16.320.099/C565023 C15.378.100.100|C16.320.099 Familial Multiple Coagulation Factor Deficiency V|Multiple Coagulation Factor Deficiency V Blood disease|Genetic disease (inborn) FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 OMIM:227300 MESH:D005166|MESH:D006467 C15.378.100.100.300/227300|C15.378.100.100.500/227300|C15.378.100.141.300/227300|C15.378.100.141.500/227300|C15.378.463.300/227300|C15.378.463.500/227300|C16.320.099.300/227300|C16.320.099.500/227300 C15.378.100.100.300|C15.378.100.100.500|C15.378.100.141.300|C15.378.100.141.500|C15.378.463.300|C15.378.463.500|C16.320.099.300|C16.320.099.500 F5F8D1|FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY I|FMFD1|FMFD I|MCFD1|MULTIPLE COAGULATION FACTOR DEFICIENCY I Blood disease|Genetic disease (inborn) FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 OMIM:613625 MESH:D005166|MESH:D006467 C15.378.100.100.300/613625|C15.378.100.100.500/613625|C15.378.100.141.300/613625|C15.378.100.141.500/613625|C15.378.463.300/613625|C15.378.463.500/613625|C16.320.099.300/613625|C16.320.099.500/613625 C15.378.100.100.300|C15.378.100.100.500|C15.378.100.141.300|C15.378.100.141.500|C15.378.463.300|C15.378.463.500|C16.320.099.300|C16.320.099.500 F5F8D2 Blood disease|Genetic disease (inborn) Factor V Deficiency MESH:D005166 DO:DOID:2216|OMIM:227400 A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed) MESH:D006474|MESH:D020147|MESH:D025861 C15.378.100.100.300|C15.378.100.141.300|C15.378.463.300|C16.320.099.300 C15.378.100.100|C15.378.100.141|C15.378.463|C16.320.099 Deficiencies, Factor 5|Deficiencies, Factor Five|Deficiencies, Factor V|Deficiencies, Labile Factor|Deficiency, Factor 5|Deficiency, Factor Five|Deficiency, Factor V|Deficiency, Labile Factor|Disease, Owren|Disease, Owren's|Factor 5 Deficiencies|Factor 5 Deficiency|Factor Five Deficiencies|Factor Five Deficiency|Factor V Deficiencies|Labile Factor Deficiencies|Labile Factor Deficiency|Owren Disease|Owren Parahemophilia|Owren's Disease|Owrens Disease|Parahemophilia|Parahemophilia, Owren|Parahemophilias Blood disease|Genetic disease (inborn) Factor V Excess with Spontaneous Thrombosis MESH:C565026 MESH:D019851 C15.378.925/C565026 C15.378.925 Proaccelerin Excess Blood disease Factor VII Deficiency MESH:D005168 DO:DOID:2215|OMIM:227500 An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII is a Vitamin K dependent glycoprotein essential to the extrinsic pathway of coagulation. MESH:D006474|MESH:D020147|MESH:D025861 C15.378.100.100.310|C15.378.100.141.310|C15.378.463.310|C16.320.099.310 C15.378.100.100|C15.378.100.141|C15.378.463|C16.320.099 Deficiencies, Factor 7|Deficiencies, Factor Seven|Deficiencies, Factor VII|Deficiency, Factor 7|Deficiency, Factor Seven|Deficiency, Factor VII|F7 DEFICIENCY|Factor 7 Deficiencies|Factor 7 Deficiency|Factor Seven Deficiencies|Factor Seven Deficiency|Factor VII Deficiencies|Hypoproconvertinemia|Hypoproconvertinemias Blood disease|Genetic disease (inborn) Factor X Deficiency MESH:D005171 DO:DOID:2222|OMIM:227600 Blood coagulation disorder usually inherited as an autosomal recessive trait, though it can be acquired. It is characterized by defective activity in both the intrinsic and extrinsic pathways, impaired thromboplastin time, and impaired prothrombin consumption. MESH:D006474|MESH:D020147|MESH:D025861 C15.378.100.100.320|C15.378.100.141.320|C15.378.463.320|C16.320.099.320 C15.378.100.100|C15.378.100.141|C15.378.463|C16.320.099 Deficiencies, Factor 10|Deficiencies, Factor Ten|Deficiencies, Factor X|Deficiency, Factor 10|Deficiency, Factor Ten|Deficiency, Factor X|Deficiency, Stuart Prower|Deficiency, Stuart-Prower|Deficiency, Stuart Prower Factor|Deficiency, Stuart-Prower Factor|F10 DEFICIENCY|Factor 10 Deficiencies|Factor 10 Deficiency|Factor Ten Deficiencies|Factor Ten Deficiency|Factor X Deficiencies|Stuart Prower Deficiency|Stuart-Prower Deficiency|Stuart Prower Factor Deficiency|Stuart-Prower Factor Deficiency|Ten Deficiencies, Factor Blood disease|Genetic disease (inborn) Factor XI Deficiency MESH:D005173 DO:DOID:2229|OMIM:612416 A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia. MESH:D006474|MESH:D020147|MESH:D025861 C15.378.100.100.325|C15.378.100.141.325|C15.378.463.325|C16.320.099.325 C15.378.100.100|C15.378.100.141|C15.378.463|C16.320.099 Deficiencies, Factor 11|Deficiencies, Factor Eleven|Deficiencies, Factor XI|Deficiency, Factor 11|Deficiency, Factor Eleven|Deficiency, Factor XI|F11 DEFICIENCY|Factor 11 Deficiencies|Factor 11 Deficiency|Factor Eleven Deficiencies|Factor Eleven Deficiency|Factor XI Deficiencies|Hemophilia C|Plasma Thromboplastin Antecedent Deficiency|PTA DEFICIENCY|Rosenthal's Syndrome|Rosenthals Syndrome|Rosenthal's Syndromes|Rosenthal Syndrome|Rosenthal Syndromes|Syndrome, Rosenthal|Syndrome, Rosenthal's Blood disease|Genetic disease (inborn) Factor XII Deficiency MESH:D005175 DO:DOID:2231|OMIM:234000 An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time. MESH:D006474|MESH:D020147|MESH:D025861 C15.378.100.100.330|C15.378.100.141.330|C15.378.463.330|C16.320.099.330 C15.378.100.100|C15.378.100.141|C15.378.463|C16.320.099 Coagulation Factor 12 Deficiency|Deficiencies, Factor 12|Deficiencies, Factor Twelve|Deficiencies, Factor XII|Deficiency, Factor 12|Deficiency, Factor Twelve|Deficiency, Factor XII|Deficiency, Hageman Factor|F12 DEFICIENCY|Factor 12 Deficiencies|Factor 12 Deficiency|Factor Deficiency, Hageman|Factor Twelve Deficiencies|Factor Twelve Deficiency|Factor XII Deficiencies|HAF DEFICIENCY|Hageman Factor Deficiency|Hageman Trait Blood disease|Genetic disease (inborn) Factor Xiii, A Subunit, Deficiency Of MESH:C567691 OMIM:613225 MESH:D005177 C15.378.100.100.335/C567691|C15.378.100.141.335/C567691|C15.378.463.335/C567691|C16.320.099.335/C567691 C15.378.100.100.335|C15.378.100.141.335|C15.378.463.335|C16.320.099.335 Blood disease|Genetic disease (inborn) Factor XIII, B Subunit, Deficiency Of MESH:C567688 OMIM:613235 MESH:D005177 C15.378.100.100.335/C567688|C15.378.100.141.335/C567688|C15.378.463.335/C567688|C16.320.099.335/C567688 C15.378.100.100.335|C15.378.100.141.335|C15.378.463.335|C16.320.099.335 Blood disease|Genetic disease (inborn) Factor XIII Deficiency MESH:D005177 DO:DOID:2211 A deficiency of blood coagulation FACTOR XIII or fibrin stabilizing factor (FSF) that prevents blood clot formation and results in a clinical hemorrhagic diathesis. MESH:D006474|MESH:D020147|MESH:D025861 C15.378.100.100.335|C15.378.100.141.335|C15.378.463.335|C16.320.099.335 C15.378.100.100|C15.378.100.141|C15.378.463|C16.320.099 Deficiencies, Factor 13|Deficiencies, Factor Thirteen|Deficiencies, Factor XIII|Deficiency, Factor 13|Deficiency, Factor Thirteen|Deficiency, Factor XIII|Factor 13 Deficiencies|Factor 13 Deficiency|Factor Thirteen Deficiencies|Factor Thirteen Deficiency|Factor XIII Deficiencies Blood disease|Genetic disease (inborn) Fahr's disease MESH:C536275 DO:DOID:0060230|OMIM:213600 MESH:D001480|MESH:D002114|MESH:D019636 C10.228.140.079/C536275|C10.574/C536275|C18.452.174.130/C536275 C10.228.140.079|C10.574|C18.452.174.130 Adult-onset idiopathic nonarteriosclerotic cerebral calcification|Basal Ganglia Calcification, Idiopathic, 1|BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2, FORMERLY|BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3, FORMERLY|Bilateral Striopallidodentate Calcinosis|BSPDC|BSPDC Bilateral striopallidodentate calcinosis|Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset|Cerebrovascular ferrocalcinosis|FAHR DISEASE, FAMILIAL, FORMERLY|Fahr's syndrome|Familial idiopathic basal ganglia calcification|Ferrocalcinosis, Cerebrovascular|Fibgc|IBGC1|IBGC2, FORMERLY|IBGC3, FORMERLY|Idiopathic basal ganglia calcification 1|PFBC|PRIMARY FAMILIAL BRAIN CALCIFICATION|Striopallidodentate Calcinosis|Striopallidodentate calcinosis, autosomal dominant, adult onset|Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset|Striopallidodentate Calcinosis, Bilateral Metabolic disease|Nervous system disease Failed Back Surgery Syndrome MESH:D055111 A condition of persistent pain and discomfort in the BACK and the LEG following lumbar surgery, often seen in patients enrolled in pain centers. MESH:D001416|MESH:D011183 C23.550.767.225|C23.888.592.612.107.200 C23.550.767|C23.888.592.612.107 Pathology (process)|Signs and symptoms Failure of Tooth Eruption, Primary MESH:C565114 DO:DOID:0111341|OMIM:125350 MESH:D014076 C07.793/C565114 C07.793 Dental Noneruption|PFE|Posterior Openbite, Familial|POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL|Primary Failure of Eruption, Nonsyndromic|PRIMARY FAILURE OF TOOTH ERUPTION, NONSYNDROMIC|Primary Retention of Teeth|Unerupted Second Primary Molar Mouth disease Failure to Thrive MESH:D005183 A condition of substandard growth or diminished capacity to maintain normal function. MESH:D012816 C23.888.338 C23.888 Thrive, Failure to Signs and symptoms Fairbank disease MESH:C536393 MESH:D005532|MESH:D006228|MESH:D010009 C05.116.099.708/C536393|C05.330.495/C536393|C05.390.408/C536393|C05.660.585.512.380/C536393|C05.660.585.988.425/C536393|C16.131.621.585.512.500/C536393|C16.131.621.585.988.500/C536393|C16.320.728/C536393 C05.116.099.708|C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.320.728 Dysplasia epiphysealis multiplex|Epiphyseal dysplasia Fairbank type|Epiphyseal Dysplasia, Fairbank Type|Epiphyseal Dysplasia, Ribbing Type|Fairbank multiple epiphyseal dysplasia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Fallopian Tube Diseases MESH:D005184 DO:DOID:1962 Diseases involving the FALLOPIAN TUBES including neoplasms (FALLOPIAN TUBE NEOPLASMS); SALPINGITIS; tubo-ovarian abscess; and blockage. MESH:D000291 C12.050.351.500.056.390|C12.100.250.056.390 C12.050.351.500.056|C12.100.250.056 Disease, Fallopian Tube|Diseases, Fallopian Tube|Fallopian Tube Disease|Obstructions, Tubal|Obstruction, Tubal|Tubal Obstruction|Tubal Obstructions Urogenital disease (female) Fallopian Tube Neoplasms MESH:D005185 DO:DOID:1963|DO:DOID:1964 Benign or malignant neoplasms of the FALLOPIAN TUBES. They are uncommon. If they develop, they may be located in the wall or within the lumen as a growth attached to the wall by a stalk. MESH:D005184|MESH:D005833 C04.588.945.418.365|C12.050.351.500.056.390.390|C12.050.351.937.418.365|C12.100.250.056.390.390|C12.900.418.365 C04.588.945.418|C12.050.351.500.056.390|C12.050.351.937.418|C12.100.250.056.390|C12.900.418 Cancer, Fallopian Tube|Cancer of the Fallopian Tube|Cancers, Fallopian Tube|Fallopian Tube Cancer|Fallopian Tube Cancers|Fallopian Tube Neoplasm|Neoplasm, Fallopian Tube|Neoplasms, Fallopian Tube Cancer|Urogenital disease (female) Fallot complex with severe mental and growth retardation MESH:C536608 MESH:D006130|MESH:D008607|MESH:D013771 C10.597.606.360/C536608|C14.240.400.849/C536608|C14.280.400.849/C536608|C16.131.240.400.849/C536608|C23.550.393/C536608|C23.888.592.604.646/C536608|F03.625.539/C536608 C10.597.606.360|C14.240.400.849|C14.280.400.849|C16.131.240.400.849|C23.550.393|C23.888.592.604.646|F03.625.539 Bindewald Ulmer Muller syndrome Cardiovascular disease|Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Familial acanthosis nigricans MESH:C531598 MESH:D000052 C17.800.621.430.530.100/C531598 C17.800.621.430.530.100 Skin disease Familial Acute Myeloid Leukemia with Mutated Cebpa MESH:C580075 MESH:D015470 C04.557.337.539.275/C580075 C04.557.337.539.275 Cebpa-Dependent Familial Acute Myeloid Leukemia|Familial Acute Myeloid Leukaemia Cancer Familial anomalous origin of right pulmonary artery MESH:C535681 MESH:D006330 C14.240.400/C535681|C14.280.400/C535681|C16.131.240.400/C535681 C14.240.400|C14.280.400|C16.131.240.400 ARPA, Familial|Right pulmonary artery, anomalous origin of, familial Cardiovascular disease|Congenital abnormality Familial antiphospholipid syndrome MESH:C531622 OMIM:107320 MESH:D016736 C20.111.197/C531622 C20.111.197 Antiphospholipid Syndrome, Familial|Lupus anticoagulant, familial Immune system disease Familial apoceruloplasmin deficiency MESH:C536004 OMIM:604290 MESH:D019189|MESH:D019636 C10.574/C536004|C18.452.565/C536004 C10.574|C18.452.565 Aceruloplasminemia|Ceruloplasmin deficiency|CERULOPLASMIN DEFICIENCY, INCLUDED|HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, INCLUDED|Hereditary hypoceruloplasminemia|Hypoceruloplasminemia|HYPOCERULOPLASMINEMIA, INCLUDED Metabolic disease|Nervous system disease Familial benign hypercalcemia, type 3 MESH:C537147 OMIM:600740 MESH:D006934 C18.452.174.451/C537147|C18.452.950.340/C537147 C18.452.174.451|C18.452.950.340 Familial benign hypercalcemia, Oklahoma variant|Familial Benign Hypercalcemia, Type III|FBH3|HHC3|Hypercalcemia, familial benign, Oklahoma type|Hypercalcemia, familial benign, type 3|Hypercalcemia, Familial Benign, Type III|Hypocalciuric hypercalcemia, familial, type 3|Hypocalciuric Hypercalcemia, Familial, Type III Metabolic disease Familial Burkitt's lymphoma MESH:C538493 MESH:D002051 C01.925.256.466.313.165/C538493|C01.925.928.313.165/C538493|C04.557.386.480.150.165/C538493|C15.604.515.569.480.150.165/C538493|C20.683.515.761.480.150.165/C538493 C01.925.256.466.313.165|C01.925.928.313.165|C04.557.386.480.150.165|C15.604.515.569.480.150.165|C20.683.515.761.480.150.165 Cancer|Immune system disease|Lymphatic disease|Viral disease Familial capillaro-venous leptomeningeal angiomatosis MESH:C536609 MESH:D000798|MESH:D001932 C04.588.614.250.195/C536609|C10.228.140.211/C536609|C10.551.240.250/C536609|C14.907.077/C536609 C04.588.614.250.195|C10.228.140.211|C10.551.240.250|C14.907.077 Cancer|Cardiovascular disease|Nervous system disease Familial cerebral cavernous malformation MESH:C536610 MESH:D020786 C04.557.645.375.385.500/C536610|C10.500.190.200/C536610|C14.240.850.875.249/C536610|C14.907.454.385.500/C536610|C15.378.463.515.385.500/C536610|C16.131.666.190.200/C536610 C04.557.645.375.385.500|C10.500.190.200|C14.240.850.875.249|C14.907.454.385.500|C15.378.463.515.385.500|C16.131.666.190.200 Familial cavernous hemangioma|Familial cerebral cavernous angioma Blood disease|Cancer|Cardiovascular disease|Congenital abnormality|Nervous system disease Familial Cold Autoinflammatory Syndrome 2 MESH:C567090 DO:DOID:0090063|OMIM:611762 MESH:D056587 C16.320.382.500/C567090|C17.800.827.368.500/C567090|C17.800.862.945.533.500.500/C567090|C20.543.480.904.533.500.500/C567090|C23.550.291.500.360.500.500/C567090 C16.320.382.500|C17.800.827.368.500|C17.800.862.945.533.500.500|C20.543.480.904.533.500.500|C23.550.291.500.360.500.500 FCAS2 Genetic disease (inborn)|Immune system disease|Pathology (process)|Skin disease Familial cyclic vomiting syndrome MESH:C536228 MESH:D014839 C23.888.821.937/C536228 C23.888.821.937 Cyclical Vomiting|Cyclical Vomiting Syndrome|Cyclic vomiting syndrome|Periodic Vomiting Signs and symptoms Familial cylindromatosis MESH:C536611 OMIM:132700|OMIM:601606|OMIM:605041 MESH:D009386|MESH:D012878 C04.588.805/C536611|C04.700/C536611|C16.320.700/C536611|C17.800.882/C536611 C04.588.805|C04.700|C16.320.700|C17.800.882 Ancell-Spiegler cylindromas|Brooke-Fordyce Trichoepitheliomas|Brooke-Spiegler syndrome|BRSS|BSS|Cylindromas, Dermal Eccrine|Cylindromatosis, familial|Dermal Eccrine Cylindroma|EAC|Epithelioma adenoides cysticum of Brooke|Epithelioma, hereditary multiple benign cystic|Familial Trichoepithelioma|Hereditary Multiple Benign Cystic Epithelioma|MFT1|Multiple Familial Trichoepithelioma|SBS|Spiegler-Brooke syndrome|Trichoepithelioma multiple familial|Trichoepithelioma, Multiple Familial, 1|Turban tumors|Turban tumor syndrome|'TURBAN TUMOR' SYNDROME Cancer|Genetic disease (inborn)|Skin disease Familial dermographism MESH:C536612 OMIM:125630 MESH:D000094482 C17.800.862.945.533.500/C536612|C20.543.480.904.533.500/C536612|C23.550.291.500.360.500/C536612 C17.800.862.945.533.500|C20.543.480.904.533.500|C23.550.291.500.360.500 DDU|dermatographia|Dermatographism, Familial|Dermo-distortive urticaria|Dermodistortive Urticaria|dermographic urticaria|dermographism|Dermographism, Familial|familial dermatographia|Familial dermatographism|familial dermographic urticaria|symptomatic dermographism|urticaria factitia|VBU|VIBRATORY ANGIOEDEMA|VIBRATORY URTICARIA Immune system disease|Pathology (process)|Skin disease familial dilated cardiomyopathy MESH:C536231 OMIM:600884 MESH:D002311 C14.280.195.160/C536231|C14.280.238.070/C536231|C16.320.488.750/C536231 C14.280.195.160|C14.280.238.070|C16.320.488.750 cardiomyopathy, dilated, 1b|cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|CMD1B|CMPD1|dilated cardiomyopathy, familial|FDC|hypokinetic dilated cardiomyopathy, familial Cardiovascular disease|Genetic disease (inborn) Familial duodenal atresia MESH:C535720 DO:DOID:0080216 MESH:D004380|MESH:D007409 C06.198.719/C535720|C06.405.469.275.395/C535720|C06.405.469.445/C535720|C06.405.469.531.311/C535720|C16.131.314.466/C535720 C06.198.719|C06.405.469.275.395|C06.405.469.445|C06.405.469.531.311|C16.131.314.466 Duodenal atresia|Duodenal stenosis Congenital abnormality|Digestive system disease Familial ectopia lentis MESH:C536184 DO:DOID:0111148 MESH:D004479 C11.250.300/C536184|C11.510.598.373/C536184|C16.131.384.405/C536184 C11.250.300|C11.510.598.373|C16.131.384.405 Ectopia Lentis, Familial|Ectopia lentis isolated|Ectopia Lentis, Isolated|Isolated ectopia lentis Congenital abnormality|Eye disease Familial encephalopathy with neuroserpin inclusion bodies MESH:C536841 DO:DOID:0050831|OMIM:604218 MESH:D004831|MESH:D020271 C10.228.140.490.375.130/C536841|C10.228.140.490.493.063/C536841|C10.574.500/C536841|C16.320.400/C536841 C10.228.140.490.375.130|C10.228.140.490.493.063|C10.574.500|C16.320.400 Encephalopathy, familial, with Collins bodies|Encephalopathy, Familial, With Neuroserpin Inclusion Bodies|Familial Dementia with Neuroserpin Inclusion Bodies|FENIB Genetic disease (inborn)|Nervous system disease Familial ependymoma MESH:C531673 MESH:D004806 C04.557.465.625.600.380.290/C531673|C04.557.470.670.380.290/C531673|C04.557.580.625.600.380.290/C531673 C04.557.465.625.600.380.290|C04.557.470.670.380.290|C04.557.580.625.600.380.290 Adult intracranial ependymoma|Childhood ependymoma|Ependymoma, Familial Cancer Familial Exudative Vitreoretinopathies MESH:D000080345 A group of inherited disorders characterized by incomplete development of the retinal vasculature. Its severity can vary from complete blindness in infancy, to mild or no visual problems, where small areas of vascular defects are observable only by FLUORESCEIN ANGIOGRAPHY. Exudative vitreoretinopathy 1 is associated with mutations in the FZD4 gene. MESH:D005124|MESH:D012164|MESH:D015785 C11.250.345|C11.270.238|C11.768.337|C16.131.384.424|C16.320.290.352 C11.250|C11.270|C11.768|C16.131.384|C16.320.290 Exudative Vitreoretinopathy, Familial|Familial Exudative Vitreoretinopathy|Vitreoretinopathy, Familial Exudative|XL-FEVR|X Linked Familial Exudative Vitreoretinopathy|X-Linked Familial Exudative Vitreoretinopathy Congenital abnormality|Eye disease|Genetic disease (inborn) Familial Glucocorticoid Deficiency 1 MESH:C565974 OMIM:202200 MESH:D000309|MESH:D043202 C16.320.565.925/C565974|C18.452.648.925/C565974|C19.053.500/C565974 C16.320.565.925|C18.452.648.925|C19.053.500 ACTH Resistance|Adrenal Unresponsiveness to ACTH|FAMILIAL GLUCOCORTICOID DEFICIENCY 1|FGD1|GCCD1|Glucocorticoid Deficiency 1 Endocrine system disease|Genetic disease (inborn)|Metabolic disease familial gynecomastia, due to increased aromatase activity MESH:C000591739 MESH:D006177|MESH:D008661 C16.320.565/C000591739|C17.800.090.875/C000591739|C18.452.648/C000591739 C16.320.565|C17.800.090.875|C18.452.648 Aromatase Excess Syndrome|Gynecomastia, Familial, due to Increased Aromatase Activity|Gynecomastia, Hereditary Genetic disease (inborn)|Metabolic disease|Skin disease Familial Hyperaldosteronism MESH:C580087 MESH:D006929 C19.053.800.604/C580087 C19.053.800.604 Endocrine system disease Familial Hyperbeta- and Prebetalipoproteinemia MESH:C566262 MESH:D006938 C16.320.565.398.481/C566262|C18.452.584.500.500.644.475/C566262|C18.452.584.563.481/C566262|C18.452.648.398.481/C566262 C16.320.565.398.481|C18.452.584.500.500.644.475|C18.452.584.563.481|C18.452.648.398.481 Genetic disease (inborn)|Metabolic disease Familial hyperchylomicronemia syndrome MESH:C538489 MESH:D008072 C16.320.565.398.465/C538489|C18.452.584.500.500.644.237/C538489|C18.452.584.563.465/C538489|C18.452.648.398.465/C538489 C16.320.565.398.465|C18.452.584.500.500.644.237|C18.452.584.563.465|C18.452.648.398.465 Hyperlipoproteinemia, type 1 Genetic disease (inborn)|Metabolic disease Familial hypersecretion of adrenal androgens MESH:C536845 MESH:D000308 C19.053.800/C536845 C19.053.800 Hypersecretion of adrenal androgens, familial Endocrine system disease Familial hypersensitivity pneumonitis MESH:C536846 MESH:D000542 C08.381.483.125/C536846|C08.674.055/C536846|C20.543.480.680.075/C536846 C08.381.483.125|C08.674.055|C20.543.480.680.075 Hypersensitivity pneumonitis familial|Hypersensitivity Pneumonitis, Familial Immune system disease|Respiratory tract disease Familial Hypophosphatemic Rickets MESH:D053098 DO:DOID:0050445|OMIM:300554|OMIM:307800 A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported. MESH:D007015|MESH:D063730 C05.116.198.816.875.500|C12.050.351.968.419.815.647.500|C12.200.777.419.815.647.500|C12.950.419.815.647.500|C16.320.565.618.544.500|C16.320.831.647.500|C18.452.104.816.875.500|C18.452.174.845.875.500|C18.452.648.618.544.500|C18.452.750.400.500.500|C18.452.750.400.750.500|C18.654.521.500.133.770.734.875.500 C05.116.198.816.875|C12.050.351.968.419.815.647|C12.200.777.419.815.647|C12.950.419.815.647|C16.320.565.618.544|C16.320.831.647|C18.452.104.816.875|C18.452.174.845.875|C18.452.648.618.544|C18.452.750.400.500|C18.452.750.400.750|C18.654.521.500.133.770.734.875 Generalized Resistance To 1,25 Dihydroxyvitamin D|Generalized Resistance To 1,25-Dihydroxyvitamin D|Hereditary Hypophosphatemic Rickets|Hereditary Vitamin D Resistant Rickets|Hereditary Vitamin D-Resistant Rickets|HPDR|HYP|Hypocalcemic Vitamin D Resistant Rickets|Hypocalcemic Vitamin D-Resistant Rickets|Hypophosphatemia, X Linked|Hypophosphatemia, X-Linked|Hypophosphatemic Rickets, Familial|Hypophosphatemic Rickets, Hereditary|Hypophosphatemic Rickets, X-Linked|Hypophosphatemic Rickets, X Linked Dominant|Hypophosphatemic Rickets, X-Linked Dominant|Hypophosphatemic Rickets, X Linked Recessive|Hypophosphatemic Rickets, X-Linked Recessive|HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS|Rickets, Familial Hypophosphatemic|Rickets, Hereditary Hypophosphatemic|Rickets, Hereditary Vitamin D Resistant|Rickets, Hereditary Vitamin D-Resistant|Rickets, X-Linked Hypophosphatemic|Vitamin D Resistant Rickets, Hereditary|Vitamin D-Resistant Rickets, Hereditary|Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol|Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol|Vitamin D Resistant Rickets, X Linked|Vitamin D-Resistant Rickets, X-Linked|XLH|XLHR|X Linked Hypophosphatemia|X-Linked Hypophosphatemia|X-Linked Hypophosphatemic Rickets Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nutrition disorder|Urogenital disease (female)|Urogenital disease (male) Familial Letterer-Siwe disease MESH:C538636 DO:DOID:2571 MESH:D006646 C08.381.483.375/C538636|C15.604.250.400/C538636 C08.381.483.375|C15.604.250.400 Histiocytosis X, acute disseminated Lymphatic disease|Respiratory tract disease Familial Mediterranean Fever MESH:D010505 DO:DOID:2987|OMIM:134610|OMIM:249100 A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding PYRIN result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene. MESH:D056660 C16.320.382.625 C16.320.382 Benign Paroxysmal Peritonitides|Benign Paroxysmal Peritonitis|Disease, Periodic|Diseases, Periodic|Disease, Wolff Periodic|Disease, Wolff's Periodic|Familial Mediterranean Fever, Autosomal Dominant|Familial Mediterranean Fever, Autosomal Recessive|Familial Paroxysmal Polyserositides|Familial Paroxysmal Polyserositis|FMF|FMF, AUTOSOMAL DOMINANT|Mediterranean Fever, Familial|Paroxysmal Peritonitides, Benign|Paroxysmal Peritonitis, Benign|Paroxysmal Polyserositides, Familial|Paroxysmal Polyserositis, Familial|Periodic Disease|Periodic Diseases|Periodic Disease, Wolff|Periodic Disease, Wolff's|Periodic Disease, Wolffs|Periodic Peritonitides|Periodic Peritonitis|Peritonitides, Benign Paroxysmal|Peritonitides, Periodic|Peritonitis, Benign Paroxysmal|Peritonitis, Periodic|Polyserositides, Familial Paroxysmal|Polyserositides, Recurrent|Polyserositis, Familial Paroxysmal|Polyserositis, Recurrent|Recurrent Polyserositides|Recurrent Polyserositis|Wolff Periodic Disease|Wolff's Periodic Disease|Wolffs Periodic Disease Genetic disease (inborn) Familial medullary thyroid carcinoma MESH:C536911 DO:DOID:0050547|OMIM:155240 MESH:D013964|MESH:D018276|MESH:D018813 C04.557.465.625.650.240.315/C536911|C04.557.470.200.025.370.315/C536911|C04.557.470.615.315/C536911|C04.557.580.625.650.240.315/C536911|C04.588.322.400.505/C536911|C04.588.322.894/C536911|C04.588.443.915/C536911|C04.651.600.505/C536911|C04.700.630.505/C536911|C16.320.700.630.505/C536911|C19.344.400.505/C536911|C19.344.894/C536911|C19.874.788/C536911 C04.557.465.625.650.240.315|C04.557.470.200.025.370.315|C04.557.470.615.315|C04.557.580.625.650.240.315|C04.588.322.400.505|C04.588.322.894|C04.588.443.915|C04.651.600.505|C04.700.630.505|C16.320.700.630.505|C19.344.400.505|C19.344.894|C19.874.788 FMTC|Medullary thyroid cancer, familial|MTC|MTC1|Thyroid cancer, familial medullary|Thyroid Carcinoma, Familial Medullary Cancer|Endocrine system disease|Genetic disease (inborn) Familial Multiple Coagulation Factor Deficiency I MESH:C565577 MESH:D005166|MESH:D006467 C15.378.100.100.300/C565577|C15.378.100.100.500/C565577|C15.378.100.141.300/C565577|C15.378.100.141.500/C565577|C15.378.463.300/C565577|C15.378.463.500/C565577|C16.320.099.300/C565577|C16.320.099.500/C565577 C15.378.100.100.300|C15.378.100.100.500|C15.378.100.141.300|C15.378.100.141.500|C15.378.463.300|C15.378.463.500|C16.320.099.300|C16.320.099.500 Combined Deficiency of Factor V and Factor VIII|F5F8D|Factor V And Factor VIII, Combined Deficiency Of|Factor V And Factor VIII, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor|FMFD1|FMFD I|MCFD1|Multiple Coagulation Factor Deficiency I Blood disease|Genetic disease (inborn) Familial Multiple Coagulation Factor Deficiency II MESH:C565024 MESH:D025861 C15.378.100.100/C565024|C16.320.099/C565024 C15.378.100.100|C16.320.099 F8F9D|Factor VIII And Factor IX, Combined Deficiency|FMFD II Blood disease|Genetic disease (inborn) Familial Multiple Coagulation Factor Deficiency IV MESH:C565025 MESH:D025861 C15.378.100.100/C565025|C16.320.099/C565025 C15.378.100.100|C16.320.099 Factor VII and Factor VIII, Combined Deficiency|FMFD IV|MCFD4|Multiple Coagulation Factor Deficiency IV Blood disease|Genetic disease (inborn) Familial Multiple Coagulation Factor Deficiency VI MESH:C565022 MESH:D025861 C15.378.100.100/C565022|C16.320.099/C565022 C15.378.100.100|C16.320.099 Factor IX and Factor XI, Combined Deficiency|FMFD VI|MCFD6|Multiple Coagulation Factor Deficiency VI Blood disease|Genetic disease (inborn) Familial Multiple Lipomatosis MESH:D000071070 A rare autosomal disorder characterized by numerous encapsulated lipomas on the trunk and extremities. The lipomas are usually not painful but can cause pain when growing. In rare cases, one lipoma can become painful and progress to multiple painful lipomas; it is then referred to as Dercum's Disease Type III MESH:D008068|MESH:D030342 C16.320.298|C17.800.463.375|C18.452.584.718.625 C16.320|C17.800.463|C18.452.584.718 Adiposis Dolorosa Type III|Dercum's Disease Type III|Familial Multiple Lipoma|Familial Multiple Lipomas|Familial Multiple Lipomatoses|Lipoma Dolorosa|Lipomatoses, Familial Multiple|Lipomatosis, Familial Multiple|Multiple Lipoma, Familial|Multiple Lipomas, Familial Genetic disease (inborn)|Metabolic disease|Skin disease Familial multiple trichodiscomas MESH:C536847 MESH:D005350|MESH:D012878 C04.557.450.565.590.340/C536847|C04.588.805/C536847|C17.800.882/C536847 C04.557.450.565.590.340|C04.588.805|C17.800.882 Hereditary multiple trichodiscomas|Trichodiscomas, Familial Multiple Cancer|Skin disease Familial myelofibrosis MESH:C536848 MESH:D055728 C15.378.190.636.765/C536848 C15.378.190.636.765 Blood disease Familial neurocardiogenic syncope MESH:C536849 MESH:D019462 C10.177.575.600.800/C536849|C10.597.606.358.800.600.500/C536849|C23.888.592.604.359.800.600.500/C536849 C10.177.575.600.800|C10.597.606.358.800.600.500|C23.888.592.604.359.800.600.500 Familial vasovagal syncope|Syncope, familial neurocardiogenic|Syncope, familial vasovagal Nervous system disease|Signs and symptoms Familial Osteochondritis Dissecans MESH:C580095 MESH:D010008 C05.116.791.668/C580095 C05.116.791.668 Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis Musculoskeletal disease Familial Paget's disease of bone MESH:C538098 MESH:D010001 C05.116.692/C538098 C05.116.692 Paget disease of bone, type 1 Musculoskeletal disease Familial paroxysmal dystonia MESH:C537180 OMIM:128200 MESH:D004421 C10.597.350.300/C537180|C23.888.592.350.300/C537180 C10.597.350.300|C23.888.592.350.300 Dystonia 10|Dystonia, familial paroxysmal|DYT10|EKD1|Episodic Kinesigenic Dyskinesia 1|Familial Paroxysmal Kinesigenic Dyskinesia|Paroxysmal kinesigenic choreoathetosis|Paroxysmal Kinesigenic Dyskinesia|PKC|PKD Nervous system disease|Signs and symptoms Familial pars planitis MESH:C531774 MESH:D015868 C11.941.160.478.700/C531774|C11.941.879.780.900.300.659/C531774|C11.941.879.900.500/C531774 C11.941.160.478.700|C11.941.879.780.900.300.659|C11.941.879.900.500 Eye disease Familial pityriasis rubra pilaris MESH:C531784 MESH:D010916 C17.800.859.600.685/C531784 C17.800.859.600.685 Pityriasis rubra pilaris--familial type Skin disease Familial popliteal pterygium syndrome MESH:C535891 MESH:D002971|MESH:D002972|MESH:D012868 C05.500.460.185/C535891|C05.660.207.540.460.185/C535891|C07.320.440.185/C535891|C07.465.409.225/C535891|C07.465.525.164/C535891|C07.465.525.185/C535891|C07.650.500.460.185/C535891|C07.650.525.164/C535891|C07.650.525.185/C535891|C16.131.621.207.540.460.185/C535891|C16.131.831/C535891|C16.131.850.500.460.185/C535891|C16.131.850.525.164/C535891|C16.131.850.525.185/C535891|C17.800.804/C535891 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.831|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C17.800.804 Lewis Pashayan syndrome Congenital abnormality|Mouth disease|Musculoskeletal disease|Skin disease Familial primary biliary cirrhosis MESH:C538544 MESH:D008105 C06.130.120.135.250.250/C538544|C06.552.150.250/C538544|C06.552.630.400/C538544|C23.550.355.412.400/C538544 C06.130.120.135.250.250|C06.552.150.250|C06.552.630.400|C23.550.355.412.400 Digestive system disease|Pathology (process) Familial primary gastric lymphoma MESH:C535648 MESH:D008228|MESH:D013274 C04.557.386.480/C535648|C04.588.274.476.767/C535648|C06.301.371.767/C535648|C06.405.249.767/C535648|C06.405.748.789/C535648|C15.604.515.569.480/C535648|C20.683.515.761.480/C535648 C04.557.386.480|C04.588.274.476.767|C06.301.371.767|C06.405.249.767|C06.405.748.789|C15.604.515.569.480|C20.683.515.761.480 Gastric lymphoma|Gastric Lymphoma, Primary|Primary gastric lymphoma Cancer|Digestive system disease|Immune system disease|Lymphatic disease Familial Primary Pulmonary Hypertension MESH:D065627 OMIM:615342|OMIM:615343|OMIM:615344 Familial or idiopathic hypertension in the PULMONARY CIRCULATION which is not secondary to other disease. MESH:D006976 C08.381.423.300 C08.381.423 Heritable Pulmonary Arterial Hypertension|Hypertension, Idiopathic Pulmonary|Hypertension, Primary Pulmonary|Idiopathic Pulmonary Arterial Hypertension|Idiopathic Pulmonary Hypertension|Pph1 With Hht|PPH2|PPH3|PPH4|Primary Pulmonary Hypertension|Pulmonary Hypertension, Idiopathic|Pulmonary Hypertension, Primary|Pulmonary Hypertension, Primary, 1|Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia|PULMONARY HYPERTENSION, PRIMARY, 2|PULMONARY HYPERTENSION, PRIMARY, 3|PULMONARY HYPERTENSION, PRIMARY, 4|Pulmonary Hypertension, Primary, Dexfenfluramine-Associated|Pulmonary Hypertension, Primary, Fenfluramine-Associated Respiratory tract disease Familial progressive supranuclear palsy MESH:C538572 MESH:D013494 C10.228.140.079.882/C538572|C10.228.662.700/C538572|C10.292.562.750.500/C538572|C10.574.945.500/C538572|C10.597.622.447.690/C538572|C11.590.472.500/C538572|C23.888.592.636.447.690/C538572 C10.228.140.079.882|C10.228.662.700|C10.292.562.750.500|C10.574.945.500|C10.597.622.447.690|C11.590.472.500|C23.888.592.636.447.690 Eye disease|Nervous system disease|Signs and symptoms Familial renal cell carcinoma MESH:C536851 MESH:D002292 C04.557.470.200.025.390/C536851|C04.588.945.947.535.160/C536851|C12.050.351.937.820.535.160/C536851|C12.050.351.968.419.473.160/C536851|C12.200.758.820.750.160/C536851|C12.200.777.419.473.160/C536851|C12.900.820.535.160/C536851|C12.950.419.473.160/C536851|C12.950.983.535.160/C536851 C04.557.470.200.025.390|C04.588.945.947.535.160|C12.050.351.937.820.535.160|C12.050.351.968.419.473.160|C12.200.758.820.750.160|C12.200.777.419.473.160|C12.900.820.535.160|C12.950.419.473.160|C12.950.983.535.160 Familial renal carcinoma Cancer|Urogenital disease (female)|Urogenital disease (male) Familial schizencephaly MESH:C538514 OMIM:269160 MESH:D054220 C10.500.507/C538514|C16.131.666.507/C538514 C10.500.507|C16.131.666.507 SCHIZENCEPHALY Congenital abnormality|Nervous system disease Familial spinal arachnoiditis MESH:C531624 MESH:D001100 C10.586.625.097/C531624 C10.586.625.097 Spinal arachnoiditis|Spinal tuberculous arachnoiditis Nervous system disease Familial streblodactyly MESH:C536852 MESH:D038061 C05.660.585.512/C536852|C16.131.621.585.512/C536852 C05.660.585.512|C16.131.621.585.512 Crooked little finger, familial|Minor streblomicrodactyly, familial Congenital abnormality|Musculoskeletal disease Familial subependymomas MESH:C538553 MESH:D018315 C04.557.465.625.600.380.290.390/C538553|C04.557.470.670.380.290.390/C538553|C04.557.580.625.600.380.290.390/C538553 C04.557.465.625.600.380.290.390|C04.557.470.670.380.290.390|C04.557.580.625.600.380.290.390 Cancer Familial Sudden Death MESH:C566172 MESH:D003645 C23.550.260.322/C566172 C23.550.260.322 Pathology (process) Familial Testotoxicosis MESH:C536961 DO:DOID:0111545|OMIM:176410 MESH:D011629 C19.391.693/C536961 C19.391.693 Familial Gonadotrophin-Independent Sexual Precocity|Familial Male-Limited Precocious Puberty|Gonadotrophin-Independent Precocious Puberty|Precocious Pseudopuberty|PRECOCIOUS PUBERTY, MALE-LIMITED|Sexual precocity, familial, gonadotropin-independent|Testotoxicosis, Familial|TESTOTOXICOSIS, FAMILIAL LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY, INCLUDED Endocrine system disease Familial vascular leukoencephalopathy MESH:C531642 MESH:D046589 C10.228.140.300.150.477.200.100/C531642|C10.228.140.300.275.249/C531642|C10.228.140.300.400.203/C531642|C10.228.140.300.510.200.175/C531642|C10.228.140.300.775.200.200.100/C531642|C10.228.140.380.230.124/C531642|C14.907.253.092.477.200.100/C531642|C14.907.253.329.249/C531642|C14.907.253.560.200.175/C531642|C14.907.253.855.200.200.100/C531642|C16.320.129/C531642|C23.550.513.355.250.200.100/C531642|C23.550.717.489.250.200.100/C531642 C10.228.140.300.150.477.200.100|C10.228.140.300.275.249|C10.228.140.300.400.203|C10.228.140.300.510.200.175|C10.228.140.300.775.200.200.100|C10.228.140.380.230.124|C14.907.253.092.477.200.100|C14.907.253.329.249|C14.907.253.560.200.175|C14.907.253.855.200.200.100|C16.320.129|C23.550.513.355.250.200.100|C23.550.717.489.250.200.100 Cardiovascular disease|Genetic disease (inborn)|Nervous system disease|Pathology (process) Familial Wilms tumor 2 MESH:C536853 OMIM:194071 MESH:D009396 C04.557.435.595/C536853|C04.588.945.947.535.585/C536853|C04.700.900/C536853|C12.050.351.937.820.535.585/C536853|C12.050.351.968.419.473.585/C536853|C12.200.758.820.750.585/C536853|C12.200.777.419.473.585/C536853|C12.900.820.535.585/C536853|C12.950.419.473.585/C536853|C12.950.983.535.585/C536853|C16.320.700.900/C536853 C04.557.435.595|C04.588.945.947.535.585|C04.700.900|C12.050.351.937.820.535.585|C12.050.351.968.419.473.585|C12.200.758.820.750.585|C12.200.777.419.473.585|C12.900.820.535.585|C12.950.419.473.585|C12.950.983.535.585|C16.320.700.900 WILMS TUMOR 2|WT2 Cancer|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Fanconi Anemia MESH:D005199 DO:DOID:13636|OMIM:227650 Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004) MESH:D029502|MESH:D049914 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 C15.378.071.085.080|C15.378.190.223.500.500|C16.320.077|C18.452.284 Anemia, Fanconi|Anemia, Fanconi's|Anemias, Fanconi|ESTREN-DAMESHEK VARIANT OF FANCONI ANEMIA, INCLUDED|ESTREN-DAMESHEK VARIANT OF FANCONI PANCYTOPENIA, INCLUDED|FANCA|FANCONI ANEMIA, COMPLEMENTATION GROUP A|FANCONI ANEMIA;FA FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT, INCLUDED|Fanconi Anemias|Fanconi Hypoplastic Anemia|Fanconi Pancytopenia|Fanconi Panmyelopathy|Fanconi's Anemia Blood disease|Genetic disease (inborn)|Metabolic disease Fanconi Anemia, Complementation Group B MESH:C564497 OMIM:300514 MESH:D005199 C15.378.071.085.080.280/C564497|C15.378.190.223.500.500.280/C564497|C16.320.077.280/C564497|C18.452.284.280/C564497 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FA2|FACB|FANCB|Fanconi Pancytopenia, Type 2 Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP C OMIM:227645 DO:DOID:0111087 MESH:D005199 C15.378.071.085.080.280/227645|C15.378.190.223.500.500.280/227645|C16.320.077.280/227645|C18.452.284.280/227645 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FA3|FAC|FACC|FANCC|FANCONI PANCYTOPENIA, TYPE 3 Blood disease|Genetic disease (inborn)|Metabolic disease Fanconi Anemia, Complementation Group D1 MESH:C563980 OMIM:605724 MESH:D005199 C15.378.071.085.080.280/C563980|C15.378.190.223.500.500.280/C563980|C16.320.077.280/C563980|C18.452.284.280/C563980 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FAD1|FANCD1 Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP D2 OMIM:227646 DO:DOID:0111083 MESH:D005199 C15.378.071.085.080.280/227646|C15.378.190.223.500.500.280/227646|C16.320.077.280/227646|C18.452.284.280/227646 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FA4|FACD|FAD2|FANCD|FANCD2|FANCONI ANEMIA, COMPLEMENTATION GROUP D|FANCONI PANCYTOPENIA, TYPE 4 Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP E OMIM:600901 DO:DOID:0111084 MESH:D005199 C15.378.071.085.080.280/600901|C15.378.190.223.500.500.280/600901|C16.320.077.280/600901|C18.452.284.280/600901 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FACE|FANCE Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP F OMIM:603467 DO:DOID:0111088 MESH:D005199 C15.378.071.085.080.280/603467|C15.378.190.223.500.500.280/603467|C16.320.077.280/603467|C18.452.284.280/603467 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCF Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP G OMIM:614082 DO:DOID:0111086 MESH:D005199 C15.378.071.085.080.280/614082|C15.378.190.223.500.500.280/614082|C16.320.077.280/614082|C18.452.284.280/614082 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCG Blood disease|Genetic disease (inborn)|Metabolic disease Fanconi Anemia, Complementation Group I MESH:C563802 OMIM:609053 MESH:D005199 C15.378.071.085.080.280/C563802|C15.378.190.223.500.500.280/C563802|C16.320.077.280/C563802|C18.452.284.280/C563802 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCI Blood disease|Genetic disease (inborn)|Metabolic disease Fanconi Anemia, Complementation Group J MESH:C563801 OMIM:609054 MESH:D005199 C15.378.071.085.080.280/C563801|C15.378.190.223.500.500.280/C563801|C16.320.077.280/C563801|C18.452.284.280/C563801 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCJ Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP L OMIM:614083 DO:DOID:0111082 MESH:D005199 C15.378.071.085.080.280/614083|C15.378.190.223.500.500.280/614083|C16.320.077.280/614083|C18.452.284.280/614083 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCL Blood disease|Genetic disease (inborn)|Metabolic disease Fanconi Anemia, Complementation Group N MESH:C563657 OMIM:610832 MESH:D005199 C15.378.071.085.080.280/C563657|C15.378.190.223.500.500.280/C563657|C16.320.077.280/C563657|C18.452.284.280/C563657 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCN Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP O OMIM:613390 DO:DOID:0111096 MESH:D005199 C15.378.071.085.080.280/613390|C15.378.190.223.500.500.280/613390|C16.320.077.280/613390|C18.452.284.280/613390 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCO Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP P OMIM:613951 DO:DOID:0111092 MESH:D005199 C15.378.071.085.080.280/613951|C15.378.190.223.500.500.280/613951|C16.320.077.280/613951|C18.452.284.280/613951 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCP Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP Q OMIM:615272 DO:DOID:0111093 MESH:D005199 C15.378.071.085.080.280/615272|C15.378.190.223.500.500.280/615272|C16.320.077.280/615272|C18.452.284.280/615272 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCQ Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP R OMIM:617244 DO:DOID:0111090 MESH:D005199 C15.378.071.085.080.280/617244|C15.378.190.223.500.500.280/617244|C16.320.077.280/617244|C18.452.284.280/617244 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCR Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP T OMIM:616435 DO:DOID:0111081 MESH:D005199 C15.378.071.085.080.280/616435|C15.378.190.223.500.500.280/616435|C16.320.077.280/616435|C18.452.284.280/616435 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCT Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP U OMIM:617247 DO:DOID:0111085 MESH:D005199 C15.378.071.085.080.280/617247|C15.378.190.223.500.500.280/617247|C16.320.077.280/617247|C18.452.284.280/617247 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCU Blood disease|Genetic disease (inborn)|Metabolic disease FANCONI ANEMIA, COMPLEMENTATION GROUP V OMIM:617243 DO:DOID:0111080 MESH:D005199 C15.378.071.085.080.280/617243|C15.378.190.223.500.500.280/617243|C16.320.077.280/617243|C18.452.284.280/617243 C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.320.077.280|C18.452.284.280 FANCV Blood disease|Genetic disease (inborn)|Metabolic disease Fanconi like syndrome MESH:C536855 DO:DOID:0090066 MESH:D006968|MESH:D007153|MESH:D010198|MESH:D012878 C04.588.805/C536855|C15.378.700/C536855|C17.800.882/C536855|C20.543.418/C536855|C20.673/C536855 C04.588.805|C15.378.700|C17.800.882|C20.543.418|C20.673 Fanconi-Like Syndrome Blood disease|Cancer|Immune system disease|Skin disease FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG OMIM:616026 DO:DOID:0080760 MESH:D003924|MESH:D005198 C12.050.351.968.419.815.450/616026|C12.200.777.419.815.450/616026|C12.950.419.815.450/616026|C16.320.831.450/616026|C18.452.394.750.149/616026|C19.246.300/616026 C12.050.351.968.419.815.450|C12.200.777.419.815.450|C12.950.419.815.450|C16.320.831.450|C18.452.394.750.149|C19.246.300 FRTS4|FRTS4 WITH MODY Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Fanconi Syndrome MESH:D005198 DO:DOID:1062|OMIM:134600|OMIM:227810|OMIM:613388|OMIM:615605 A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA. MESH:D015499 C12.050.351.968.419.815.450|C12.200.777.419.815.450|C12.950.419.815.450|C16.320.831.450 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.831 Adult Fanconi Syndrome|Bickel Syndrome, Fanconi|De Toni-Debre-Fanconi Syndrome|Diabete, Pseudo-Phlorizin|Diabetes, Pseudo-Phlorizin|Fanconi Bickel Syndrome|Fanconi-Bickel Syndrome|Fanconi-Bickel Syndromes|Fanconi Renotubular Syndrome|FANCONI RENOTUBULAR SYNDROME 1|FANCONI RENOTUBULAR SYNDROME 2|FANCONI RENOTUBULAR SYNDROME 3|Fanconi Syndrome, Adult|Fanconi Syndrome, Renal|Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance|Fanconi Syndrome without Cystinosis|Fanconi Type Glycogenosis|FBS|FRTS|FRTS1|FRTS2|FRTS3|Glycogenosis, Fanconi Type|Glycogen Storage Disease XI|Hepatic Glycogenosis with Amino Aciduria and Glucosuria|Hepatic Glycogenosis with Fanconi Nephropathy|Hepatorenal Glycogenosis with Renal Fanconi Syndrome|Idiopathic De Toni-Debre-Fanconi Syndrome|Lignac Fanconi Syndrome|Lignac-Fanconi Syndrome|Luder Sheldon Syndrome|Luder-Sheldon Syndrome|Neonatal De Toni-Debre-Fanconi Syndrome|Primary Toni-Debre-Fanconi Syndrome|Proximal Renal Tubular Dysfunction|Pseudo-Phlorizin Diabete|Pseudo Phlorizin Diabetes|Pseudo-Phlorizin Diabetes|Renal Fanconi Syndrome|Renotubular Syndrome, Fanconi|RFS|Syndrome, Adult Fanconi|Syndrome, Fanconi|Syndrome, Fanconi Bickel|Syndrome, Fanconi-Bickel|Syndrome, Fanconi Renotubular|Syndrome, Lignac-Fanconi|Syndrome, Luder-Sheldon|Syndrome, Renal Fanconi|Syndromes, Fanconi-Bickel|Toni-Debre-Fanconi Syndrome Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Farber Lipogranulomatosis MESH:D055577 DO:DOID:0050464|OMIM:228000 A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE. MESH:D013106 C10.228.140.163.100.435.825.250|C16.320.565.189.435.825.250|C16.320.565.398.641.803.325|C16.320.565.595.554.825.250|C18.452.132.100.435.825.250|C18.452.584.563.641.803.325|C18.452.648.189.435.825.250|C18.452.648.398.641.803.325|C18.452.648.595.554.825.250 C10.228.140.163.100.435.825|C16.320.565.189.435.825|C16.320.565.398.641.803|C16.320.565.595.554.825|C18.452.132.100.435.825|C18.452.584.563.641.803|C18.452.648.189.435.825|C18.452.648.398.641.803|C18.452.648.595.554.825 AC DEFICIENCY|Acid Ceramidase Deficiencies|Acid Ceramidase Deficiency|Ceramidase Deficiencies|Ceramidase Deficiency|Ceramidase Deficiency, Acid|Deficiencies, Ceramidase|Deficiencies, N-Laurylsphingosine Deacylase|Deficiency, Acid Ceramidase|Deficiency, Ceramidase|Deficiency, N-Laurylsphingosine Deacylase|Disease, Farber's|Diseases, Farber's|Farber Disease|Farber's Disease|Farbers Disease|Farber's Diseases|FRBRL|Lipogranulomatosis, Farber|N-Laurylsphingosine Deacylase Deficiencies|N Laurylsphingosine Deacylase Deficiency|N-Laurylsphingosine Deacylase Deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease Farmer's Lung MESH:D005203 DO:DOID:14453|DO:DOID:2708 A form of alveolitis or pneumonitis due to an acquired hypersensitivity to inhaled antigens associated with farm environment. Antigens in the farm dust are commonly from bacteria actinomycetes (SACCHAROPOLYSPORA and THERMOACTINOMYCES), fungi, and animal proteins in the soil, straw, crops, pelts, serum, and excreta. MESH:D000382|MESH:D000542 C08.381.483.125.365|C08.674.055.365|C20.543.480.680.075.365|C24.080.365 C08.381.483.125|C08.674.055|C20.543.480.680.075|C24.080 Farmer Lung|Farmers Lung|Farmer's Lungs|Mushroom Worker Lung|Mushroom Worker's Lung|Mushroom Workers Lung|Mushroom Worker's Lungs Immune system disease|Occupational disease|Respiratory tract disease Fascial Dystrophy, Congenital MESH:C563219 MESH:D003240 C17.300/C563219 C17.300 Connective tissue disease Fasciculation MESH:D005207 Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations may be visualized as a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. They may represent a benign condition or occur as a manifestation of MOTOR NEURON DISEASE or PERIPHERAL NERVOUS SYSTEM DISEASES. (Adams et al., Principles of Neurology, 6th ed, p1294) MESH:D020879 C10.597.613.250|C23.888.592.608.250 C10.597.613|C23.888.592.608 Benign Fasciculation|Benign Fasciculations|Fasciculation, Benign|Fasciculation, Muscular|Fasciculations|Fasciculations, Benign|Fasciculation, Skeletal Muscle|Fasciculations, Muscular|Fasciculations, Skeletal Muscle|Fasciculations, Tongue|Fasciculation, Tongue|Muscle Fasciculation, Skeletal|Muscle Fasciculations, Skeletal|Muscular Fasciculation|Muscular Fasciculations|Skeletal Muscle Fasciculation|Skeletal Muscle Fasciculations|Tongue Fasciculation|Tongue Fasciculations Nervous system disease|Signs and symptoms Fasciitis MESH:D005208 DO:DOID:9598 Inflammation of the fascia. There are three major types: 1, Eosinophilic fasciitis, an inflammatory reaction with eosinophilia, producing hard thickened skin with an orange-peel configuration suggestive of scleroderma and considered by some a variant of scleroderma; 2, Necrotizing fasciitis (FASCIITIS, NECROTIZING), a serious fulminating infection (usually by a beta hemolytic streptococcus) causing extensive necrosis of superficial fascia; 3, Nodular/Pseudosarcomatous /Proliferative fasciitis, characterized by a rapid growth of fibroblasts with mononuclear inflammatory cells and proliferating capillaries in soft tissue, often the forearm; it is not malignant but is sometimes mistaken for fibrosarcoma. MESH:D009140 C05.321 C05 Fasciitides|Fascitides|Fascitis Musculoskeletal disease Fasciitis, Necrotizing MESH:D019115 DO:DOID:9602 A fulminating bacterial infection of the deep layers of the skin and FASCIA. It can be caused by many different organisms, with STREPTOCOCCUS PYOGENES being the most common. MESH:D005208 C05.321.550 C05.321 Fasciitides, Necrotizing|Fascitides, Necrotizing|Fascitis, Necrotizing|Necrotizing Fasciitides|Necrotizing Fasciitis|Necrotizing Fascitides|Necrotizing Fascitis Musculoskeletal disease Fasciitis, Plantar MESH:D036981 DO:DOID:9600 Inflammation of the plantar fascia (APONEUROSIS) on the bottom of the foot causing heel pain. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with HEEL SPUR, they do not appear to be causally related. MESH:D005208|MESH:D005534 C05.321.600|C05.360.350 C05.321|C05.360 Chronic Plantar Fasciitis|Fasciitis, Chronic Plantar|Fasciitis, Plantar, Chronic|Heel, Policeman's|Heels, Policeman's|Heel Spur Syndrome|Plantar Fasciitis|Plantar Fasciitis, Chronic|Policeman Heel|Policeman's Heel|Policemans Heel|Policeman's Heels Musculoskeletal disease Fascioliasis MESH:D005211 DO:DOID:885 Liver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA. MESH:D008109|MESH:D014201 C01.610.335.865.354|C01.610.518.424|C06.552.664.424 C01.610.335.865|C01.610.518|C06.552.664 Fasciola Infection|Fasciola Infections|Fascioliases|Infection, Fasciola|Infections, Fasciola Digestive system disease|Parasitic disease Fascioloidiasis MESH:D005213 DO:DOID:1217 Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma. MESH:D006374|MESH:D014201 C01.610.335.349.444|C01.610.335.865.399|C01.610.701.377.444|C22.674.377.444 C01.610.335.349|C01.610.335.865|C01.610.701.377|C22.674.377 Fascioloidiases Animal disease|Parasitic disease FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 OMIM:606035 MESH:D007333|MESH:D009765|MESH:D020022 C18.452.394.968.500/606035|C18.654.726.750.500/606035|C23.550.291.687.500/606035|C23.888.144.699.500/606035 C18.452.394.968.500|C18.654.726.750.500|C23.550.291.687.500|C23.888.144.699.500 FIQTL1 Metabolic disease|Nutrition disorder|Pathology (process)|Signs and symptoms Fatal pneumococcal Waterhouse-Friderichsen syndrome MESH:C536685 MESH:D014884 C01.150.252.223.500.750.500/C536685|C01.150.252.400.625.549.449.800/C536685|C01.207.180.500.750.500/C536685|C10.228.228.180.500.750.500/C536685|C10.586.625.280.505.904/C536685|C15.378.100.802.843/C536685|C15.378.463.950/C536685|C19.053.500.740/C536685|C23.550.414.950.843/C536685|C23.888.885.687.843/C536685 C01.150.252.223.500.750.500|C01.150.252.400.625.549.449.800|C01.207.180.500.750.500|C10.228.228.180.500.750.500|C10.586.625.280.505.904|C15.378.100.802.843|C15.378.463.950|C19.053.500.740|C23.550.414.950.843|C23.888.885.687.843 Bacterial infection or mycosis|Blood disease|Endocrine system disease|Nervous system disease|Pathology (process)|Signs and symptoms Fatigue MESH:D005221 The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli. MESH:D012816 C23.888.369 C23.888 Lassitude Signs and symptoms Fatigue Syndrome, Chronic MESH:D015673 DO:DOID:8544 A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9) MESH:D004679|MESH:D009135|MESH:D009468 C05.651.310|C10.586.500.600|C10.668.364 C05.651|C10.586.500|C10.668 Chronic Fatigue and Immune Dysfunction Syndrome|Chronic Fatigue Disorder|Chronic Fatigue Disorders|Chronic Fatigue Fibromyalgia Syndrome|Chronic Fatigue-Fibromyalgia Syndrome|Chronic Fatigue-Fibromyalgia Syndromes|Chronic Fatigue Syndrome|Chronic Fatigue Syndromes|Encephalomyelitis, Myalgic|Fatigue Disorder, Chronic|Fatigue Disorders, Chronic|Fatigue-Fibromyalgia Syndrome, Chronic|Fatigue-Fibromyalgia Syndromes, Chronic|Fatigue Syndrome, Postviral|Fatigue Syndromes, Chronic|Fatigue Syndromes, Postviral|Infectious Mononucleosis Like Syndrome, Chronic|Infectious Mononucleosis-Like Syndrome, Chronic|Myalgic Encephalomyelitis|Postviral Fatigue Syndrome|Postviral Fatigue Syndromes|Royal Free Disease|Syndrome, Postviral Fatigue|Syndromes, Postviral Fatigue|Systemic Exertion Intolerance Disease Musculoskeletal disease|Nervous system disease Fat Necrosis MESH:D005218 A condition in which the death of adipose tissue results in neutral fats being split into fatty acids and glycerol. MESH:D009336 C23.550.717.365 C23.550.717 Fat Necroses|Necrosis, Fat|Steatonecroses|Steatonecrosis Pathology (process) Fatty Acid Hydroxylase-Associated Neurodegeneration MESH:C580102 MESH:D020271 C10.574.500/C580102|C16.320.400/C580102 C10.574.500|C16.320.400 Dysmyelinating Leukodystrophy and Spastic Paraparesis|Spastic Paraplegia 35 Genetic disease (inborn)|Nervous system disease Fatty Liver MESH:D005234 DO:DOID:9452 Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS. MESH:D008107 C06.552.241 C06.552 Liver, Fatty|Liver Steatoses|Liver Steatosis|Steatohepatitides|Steatohepatitis|Steatoses, Liver|Steatoses, Visceral|Steatosis, Liver|Steatosis of Liver|Steatosis, Visceral|Visceral Steatoses|Visceral Steatosis Digestive system disease Fatty Liver, Alcoholic MESH:D005235 DO:DOID:9452 Lipid infiltration of the hepatic parenchymal cells that is due to ALCOHOL ABUSE. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of TRIGLYCERIDES accumulated. MESH:D005234|MESH:D008108 C06.552.241.390|C06.552.645.390|C25.775.100.087.645.390 C06.552.241|C06.552.645|C25.775.100.087.645 Alcoholic Fatty Liver|Alcoholic Steatohepatitis Digestive system disease|Substance-related disorder Favism MESH:D005236 DO:DOID:13628 Hemolytic anemia due to the ingestion of fava beans or after inhalation of pollen from the Vicia fava plant by persons with glucose-6-phosphate dehydrogenase deficient erythrocytes. MESH:D000743|MESH:D005517|MESH:D005955|MESH:D010939 C15.378.071.141.150.480.370|C15.378.071.141.370|C16.320.070.480.370|C25.723.415.341|C25.723.756.375 C15.378.071.141|C15.378.071.141.150.480|C16.320.070.480|C25.723.415|C25.723.756 Favisms Blood disease|Genetic disease (inborn) Faye-Petersen Ward Carey syndrome MESH:C537076 MESH:D006973|MESH:D010009|MESH:D061085 C05.116.099.708/C537076|C10.500.034/C537076|C14.907.489/C537076|C16.131.666.034/C537076|C16.320.728/C537076|C23.300.008/C537076 C05.116.099.708|C10.500.034|C14.907.489|C16.131.666.034|C16.320.728|C23.300.008 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Febrile Convulsions, Familial, 1 MESH:C565162 OMIM:121210 MESH:D003294 C10.597.742.571/C565162|C23.888.592.742.571/C565162 C10.597.742.571|C23.888.592.742.571 Convulsions, Familial Febrile, 1|FEB1|FEBRILE SEIZURES, FAMILIAL, 1|Seizures, Familial, 1 Nervous system disease|Signs and symptoms Febrile Convulsions, Familial, 10 MESH:C567218 OMIM:612637 MESH:D003294 C10.597.742.571/C567218|C23.888.592.742.571/C567218 C10.597.742.571|C23.888.592.742.571 CONVULSIONS, FAMILIAL FEBRILE, 10|FEB10|FEBRILE SEIZURES, FAMILIAL, 10|Seizures, Familial Febrile, 10 Nervous system disease|Signs and symptoms Febrile Convulsions, Familial, 2 MESH:C566541 OMIM:602477 MESH:D003294 C10.597.742.571/C566541|C23.888.592.742.571/C566541 C10.597.742.571|C23.888.592.742.571 Convulsions, Familial Febrile, 2|CONVULSIONS, FAMILIAL FEBRILE, 2, INCLUDED|EIG17|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 17|FEB2, INCLUDED|FEBRILE SEIZURES, FAMILIAL, 2, INCLUDED|GEFS+11, INCLUDED|GEFSP11, INCLUDED|GEFS+, TYPE 11, INCLUDED|GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 11, INCLUDED|Seizures, Familial Febrile, 2 Nervous system disease|Signs and symptoms Febrile Convulsions, Familial, 3a MESH:C567820 MESH:D003294 C10.597.742.571/C567820|C23.888.592.742.571/C567820 C10.597.742.571|C23.888.592.742.571 Convulsions, Familial Febrile, 3a|Seizures, Familial Febrile, 3a Nervous system disease|Signs and symptoms Febrile Convulsions, Familial, 3b MESH:C567821 MESH:D003294 C10.597.742.571/C567821|C23.888.592.742.571/C567821 C10.597.742.571|C23.888.592.742.571 Nervous system disease|Signs and symptoms Febrile Convulsions, Familial, 4 MESH:C565788 OMIM:604352 MESH:D003294 C10.597.742.571/C565788|C23.888.592.742.571/C565788 C10.597.742.571|C23.888.592.742.571 Convulsions, Familial Febrile, 4|FEB4|FEBRILE SEIZURES, FAMILIAL, 4|Seizures, Familial Febrile, 4 Nervous system disease|Signs and symptoms Febrile Convulsions, Familial, 5 MESH:C563762 OMIM:609255 MESH:D003294 C10.597.742.571/C563762|C23.888.592.742.571/C563762 C10.597.742.571|C23.888.592.742.571 Convulsions, Familial Febrile, 5|FEB5|FEBRILE SEIZURES, FAMILIAL, 5|Seizures, Familial Febrile, 5 Nervous system disease|Signs and symptoms Febrile Convulsions, Familial, 6 MESH:C563764 OMIM:609253 MESH:D003294 C10.597.742.571/C563764|C23.888.592.742.571/C563764 C10.597.742.571|C23.888.592.742.571 Convulsions, Familial Febrile, 6|FEB6|FEBRILE SEIZURES, FAMILIAL, 6|Seizures, Familial Febrile, 6 Nervous system disease|Signs and symptoms Febrile Convulsions, Familial, 7 MESH:C566929 OMIM:611515 MESH:D003294 C10.597.742.571/C566929|C23.888.592.742.571/C566929 C10.597.742.571|C23.888.592.742.571 FEB7|FEBRILE CONVULSIONS, FAMILIAL, 7|FEBRILE SEIZURES, FAMILIAL, 7 Nervous system disease|Signs and symptoms Febrile Convulsions, Familial, 8 MESH:C566975 MESH:D003294 C10.597.742.571/C566975|C23.888.592.742.571/C566975 C10.597.742.571|C23.888.592.742.571 Nervous system disease|Signs and symptoms Febrile Convulsions, Familial, 9 MESH:C566901 OMIM:611634 MESH:D003294 C10.597.742.571/C566901|C23.888.592.742.571/C566901 C10.597.742.571|C23.888.592.742.571 FEB9|FEBRILE CONVULSIONS, FAMILIAL, 9|FEBRILE SEIZURES, FAMILIAL, 9 Nervous system disease|Signs and symptoms Febrile Neutropenia MESH:D064147 Fever accompanied by a significant reduction in the number of NEUTROPHILS. MESH:D009503 C15.378.553.546.184.564.750 C15.378.553.546.184.564 Febrile Neutropenias|Neutropenia, Febrile|Neutropenias, Febrile Blood disease Febrile Seizures Associated with Afebrile Seizures MESH:C565813 MESH:D003294 C10.597.742.571/C565813|C23.888.592.742.571/C565813 C10.597.742.571|C23.888.592.742.571 Nervous system disease|Signs and symptoms FEBRILE SEIZURES, FAMILIAL, 11 OMIM:614418 DO:DOID:0111308 MESH:D003294 C10.597.742.571/614418|C23.888.592.742.571/614418 C10.597.742.571|C23.888.592.742.571 CONVULSIONS, FAMILIAL FEBRILE, 11|FEB11 Nervous system disease|Signs and symptoms FEBRILE SEIZURES, FAMILIAL, 8 OMIM:607681 DO:DOID:0111298 MESH:C566975|MESH:D004832 C10.228.140.490.375.260/607681|C10.228.140.490.493.125/607681|C10.597.742.571/C566975/607681|C23.888.592.742.571/C566975/607681 C10.228.140.490.375.260|C10.228.140.490.493.125|C10.597.742.571/C566975|C23.888.592.742.571/C566975 ECA2,|ECA2, INCLUDED|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED|FEB8|GEFS+3, INCLUDED|GEFSP3, INCLUDED|GEFS+, TYPE 3, INCLUDED|GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3, INCLUDED Nervous system disease|Signs and symptoms Febrile Ulceronecrotic Mucha-Habermann disease MESH:C537077 MESH:D006561|MESH:D017514 C01.925.256.466.382/C537077|C01.925.825.320/C537077|C17.800.838.790.320/C537077|C17.800.859.475.650/C537077|C17.800.859.575.650/C537077|C17.800.859.600.650/C537077 C01.925.256.466.382|C01.925.825.320|C17.800.838.790.320|C17.800.859.475.650|C17.800.859.575.650|C17.800.859.600.650 FUMHD|Ulceronecrotic Mucha-Habermann disease Skin disease|Viral disease Fecal Impaction MESH:D005244 Formation of a firm impassable mass of stool in the RECTUM or distal COLON. MESH:D007415 C06.405.469.531.424 C06.405.469.531 Fecalith|Feces, Impacted|Impaction, Fecal Digestive system disease Fecal Incontinence MESH:D005242 Failure of voluntary control of the anal sphincters, with involuntary passage of feces and flatus. MESH:D012002 C06.405.469.860.300 C06.405.469.860 Bowel Incontinence|Fecal Soiling|Incontinence, Bowel|Incontinence, Fecal|Soilings, Fecal Digestive system disease Feeding and Eating Disorders MESH:D001068 DO:DOID:8670 A group of disorders characterized by physiological and psychological disturbances in appetite or food intake. MESH:D001523 F03.400 F03 Appetite Disorder|Appetite Disorders|Disorder, Eating|Disorder, Feeding|Disorders, Eating|Disorders, Feeding|Eating and Feeding Disorders|Eating Disorder|Eating Disorders|Feeding Disorder|Feeding Disorders Mental disorder Feeding and Eating Disorders of Childhood MESH:D019959 Mental disorders related to feeding and eating usually diagnosed in infancy or early childhood. MESH:D001068 F03.400.500 F03.400 Childhood Eating and Feeding Disorders Mental disorder Feigenbaum Bergeron Richardson syndrome MESH:C536178 MESH:D001161|MESH:D003920|MESH:D004831|MESH:D006312|MESH:D009207|MESH:D009404|MESH:D019636 C09.218.458.341.374/C536178|C10.228.140.490.375.130/C536178|C10.228.140.490.493.063/C536178|C10.574/C536178|C10.597.350.500/C536178|C10.597.751.418.341.374/C536178|C12.050.351.968.419.630.643/C536178|C12.200.777.419.630.643/C536178|C12.950.419.630.643/C536178|C14.907.137.126/C536178|C18.452.394.750/C536178|C19.246/C536178|C23.888.592.350.500/C536178|C23.888.592.763.393.341.374/C536178 C09.218.458.341.374|C10.228.140.490.375.130|C10.228.140.490.493.063|C10.574|C10.597.350.500|C10.597.751.418.341.374|C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643|C14.907.137.126|C18.452.394.750|C19.246|C23.888.592.350.500|C23.888.592.763.393.341.374 Cardiovascular disease|Ear-nose-throat disease|Endocrine system disease|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Feingold Trainer syndrome MESH:C536179 MESH:D000015|MESH:D002972|MESH:D008607|MESH:D019066 C05.500.460.185/C536179|C05.660.207.540.460.185/C536179|C07.320.440.185/C536179|C07.465.525.185/C536179|C07.650.500.460.185/C536179|C07.650.525.185/C536179|C10.597.606.360/C536179|C16.131.077/C536179|C16.131.621.207.540.460.185/C536179|C16.131.850.500.460.185/C536179|C16.131.850.525.185/C536179|C23.550.291.812/C536179|C23.888.592.604.646/C536179|F03.625.539/C536179 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.597.606.360|C16.131.077|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C23.550.291.812|C23.888.592.604.646|F03.625.539 Unusual facies, cleft palate, short stature, and mental retardation Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Feline Acquired Immunodeficiency Syndrome MESH:D016181 Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (FIV) and in some cats infected with feline leukemia virus (FeLV). MESH:D002371|MESH:D012897|MESH:D016180 C01.925.782.815.616.350|C01.925.839.400|C22.180.350 C01.925.782.815.616|C01.925.839|C22.180 AIDS, Feline|FAIDS|Feline Acquired Immune Deficiency Syndrome|Feline Acquired Immuno Deficiency Syndrome|Feline Acquired Immuno-Deficiency Syndrome|Feline AIDS Animal disease|Viral disease Feline Infectious Peritonitis MESH:D016766 Common coronavirus infection of cats caused by the feline infectious peritonitis virus (CORONAVIRUS, FELINE). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis. MESH:D002371|MESH:D018352 C01.925.782.600.550.200.360|C22.180.440 C01.925.782.600.550.200|C22.180 Feline Infectious Peritonitides|Infectious Peritonitides, Feline|Infectious Peritonitis, Feline|Peritonitis, Feline Infectious|Peritonitis, Infectious, Feline Animal disease|Viral disease Feline Panleukopenia MESH:D005254 A highly contagious DNA virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by FELINE PANLEUKOPENIA VIRUS or the closely related MINK ENTERITIS VIRUS or CANINE PARVOVIRUS. MESH:D002371|MESH:D010322 C01.925.256.700.363|C22.180.460 C01.925.256.700|C22.180 Agranulocytoses, Feline|Agranulocytosis, Feline|Ataxia, Feline|Ataxias, Feline|Cat Plague|Cat Plagues|Distemper, Feline|Distempers, Feline|Enteritides, Feline Infectious|Enteritis, Feline Infectious|Feline Agranulocytoses|Feline Agranulocytosis|Feline Ataxia|Feline Ataxias|Feline Distemper|Feline Distempers|Feline Infectious Enteritides|Feline Infectious Enteritis|Feline Panleukopenias|Fever, Show|Fevers, Show|Infectious Enteritides, Feline|Infectious Enteritis, Feline|Panleukopenia, Feline|Panleukopenias, Feline|Plague, Cat|Plagues, Cat|Show Fever|Show Fevers Animal disease|Viral disease Felty Syndrome MESH:D005258 DO:DOID:11042 A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY. MESH:D001172 C05.550.114.154.389|C05.799.114.389|C17.300.775.099.389|C20.111.199.389 C05.550.114.154|C05.799.114|C17.300.775.099|C20.111.199 Familial Felty's Syndrome|Familial Feltys Syndrome|Familial Felty Syndrome|Felty's Syndrome|Feltys Syndrome|Felty's Syndrome, Familial|Felty Syndrome, Familial|Rheumatoid Arthritis, Splenomegaly and Neutropenia|Syndrome, Familial Felty|Syndrome, Familial Felty's|Syndrome, Felty|Syndrome, Felty's Connective tissue disease|Immune system disease|Musculoskeletal disease Female Athlete Triad Syndrome MESH:D053716 A condition of competitive female athletes in which there are interrelated problems of feeding and eating disorders; AMENORRHEA; and OSTEOPOROSIS. MESH:D000080822 F03.400.937.500 F03.400.937 Female Athlete Triad Mental disorder Female Urogenital Diseases MESH:D052776 Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). MESH:D005261 C12.050.351 C12.050 Female Genitourinary Disease|Female Genitourinary Diseases|Female Urogenital Disease|Genitourinary Disease, Female|Genitourinary Diseases, Female|Urogenital Disease, Female|Urogenital Diseases, Female Urogenital disease (female) Female Urogenital Diseases and Pregnancy Complications MESH:D005261 Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. MESH:D000091642 C12.050 C12 Feminization MESH:D005262 Development of female secondary SEX CHARACTERISTICS in the MALE. It is due to the effects of estrogenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs. MESH:D012816 C23.888.378 C23.888 Feminizations Signs and symptoms Femoracetabular Impingement MESH:D057925 A pathological mechanical process that can lead to hip failure. It is caused by abnormalities of the ACETABULUM and/or FEMUR combined with rigorous hip motion, leading to repetitive collisions that damage the soft tissue structures. MESH:D007592|MESH:D010335 C05.550.384|C23.550.347 C05.550|C23.550 Femoracetabular Impingements|Femoroacetabular Impingement|Femoro Acetabular Impingement|Femoro-Acetabular Impingement|Femoroacetabular Impingements|Femoro-Acetabular Impingements|Femoroacetabular Impingement Syndrome|Femoroacetabular Impingement Syndromes|Impingement, Femoracetabular|Impingement, Femoroacetabular|Impingement, Femoro-Acetabular|Impingements, Femoracetabular|Impingements, Femoroacetabular|Impingements, Femoro-Acetabular|Impingement Syndrome, Femoroacetabular|Impingement Syndromes, Femoroacetabular|Syndrome, Femoroacetabular Impingement|Syndromes, Femoroacetabular Impingement Musculoskeletal disease|Pathology (process) Femoral facial syndrome MESH:C537916 MESH:D010855 C05.500.460.606/C537916|C05.660.207.540.460.606/C537916|C07.320.440.606/C537916|C07.650.500.460.606/C537916|C16.131.621.207.540.460.606/C537916|C16.131.850.500.460.606/C537916 C05.500.460.606|C05.660.207.540.460.606|C07.320.440.606|C07.650.500.460.606|C16.131.621.207.540.460.606|C16.131.850.500.460.606 Femoral dysgenesis, bilateral|Femoral dysgenesis, bilateral-Robin anomaly|Femoral-Facial Syndrome|Femoral hypoplasia unusual facies syndrome|Femoral Hypoplasia-Unusual Facies Syndrome Congenital abnormality|Mouth disease|Musculoskeletal disease Femoral Fractures MESH:D005264 Fractures of the femur. MESH:D007869|MESH:D050723 C26.404.061|C26.558.276 C26.404|C26.558 Femoral Fracture|Fracture, Femoral|Fractures, Femoral Wounds and injuries Femoral Fractures, Distal MESH:D000092524 Fractures of the distal FEMUR from the articular surface in the KNEE to the condylar region of the femur. A subset with a coronal-plane fracture of the distal femur condyle(s) is Hoffa Fracture. MESH:D005264 C26.404.061.213|C26.558.276.213 C26.404.061|C26.558.276 Distal Femoral Fracture|Distal Femoral Fractures|Distal Femur Fracture|Distal Femur Fractures|Femoral Fracture, Distal|Femur Fracture, Distal|Femur Fractures, Distal|Fracture, Distal Femoral|Fracture, Distal Femur|Lateral Femoral Condyle Fractures|Medial Femoral Condyle Fractures Wounds and injuries Femoral Neck Fractures MESH:D005265 Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES. MESH:D006620 C26.404.061.425.500|C26.531.750.500|C26.558.276.425.500 C26.404.061.425|C26.531.750|C26.558.276.425 Femoral Neck Fracture|Femur Neck Fracture|Femur Neck Fractures Wounds and injuries Femoral Neoplasms MESH:D005266 DO:DOID:5546 New abnormal growth of tissue in the FEMUR. MESH:D001859 C04.588.149.276|C05.116.231.343 C04.588.149|C05.116.231 Femoral Neoplasm|Neoplasm, Femoral|Neoplasms, Femoral Cancer|Musculoskeletal disease Femoral Neuropathy MESH:D020428 DO:DOID:4196 Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh. MESH:D020422 C10.668.829.500.200 C10.668.829.500 Bernhardt Roth Syndrome|Bernhardt-Roth Syndrome|Femoral Mononeuropathies|Femoral Mononeuropathy|Femoral Nerve Disease|Femoral Nerve Diseases|Femoral Nerve Dysfunction|Femoral Nerve Dysfunctions|Femoral Neuritides|Femoral Neuritis|Femoral Neuropathies|Lateral Femoral Cutaneous Nerve Entrapment|Meralgia Paresthetica|Mononeuropathy, Femoral|Nerve Disease, Femoral|Nerve Diseases, Femoral|Nerve Dysfunction, Femoral|Neuritis, Femoral|Neuropathy, Femoral Nervous system disease Femur bifid with monodactylous ectrodactyly MESH:C537917 MESH:D000015|MESH:D006228 C05.390.408/C537917|C05.660.585.988.425/C537917|C16.131.077/C537917|C16.131.621.585.988.500/C537917 C05.390.408|C05.660.585.988.425|C16.131.077|C16.131.621.585.988.500 Femur, Unilateral Bifid, With Monodactylous Ectrodactyly|Gollop-Wolfgang complex Congenital abnormality|Musculoskeletal disease Femur fibula ulna syndrome MESH:C537918 MESH:D000015 C16.131.077/C537918 C16.131.077 Femur-Fibula-Ulna Syndrome Congenital abnormality Femur Head Necrosis MESH:D005271 OMIM:608805|OMIM:617383 Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE. MESH:D010020 C05.116.852.175|C23.550.717.732.368 C05.116.852|C23.550.717.732 ANFH|ANFH1|ANFH2|Aseptic Necrosis of Femur Head|Avascular Necrosis Of Femoral Head, Primary|AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1|AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2|Avascular Necrosis of Femur Head|FEMORAL HEAD, ASEPTIC NECROSIS OF|Femoral Head, Avascular Necrosis Of|Femur Head Necroses|Head Necrosis, Femur|Ischemic Necrosis Of Femoral Head|Necrosis, Aseptic, of Femur Head|Necrosis, Avascular, of Femur Head|Necrosis, Femur Head|OSTEONECROSIS OF FEMORAL HEAD Musculoskeletal disease|Pathology (process) Fertile eunuch syndrome MESH:C537919 OMIM:228300 MESH:D005058 C19.391.482.293/C537919 C19.391.482.293 FERTILE EUNUCH SYNDROME|HH23|HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA|PASQUALINI SYNDROME Endocrine system disease Fetal akinesia syndrome, X-linked MESH:C537921 MESH:D005317|MESH:D011625|MESH:D017880|MESH:D040181 C05.660.585/C537921|C11.187.781/C537921|C12.050.703.277.370/C537921|C16.131.621.585/C537921|C16.300.390/C537921|C16.320.322/C537921|C23.550.393.450/C537921 C05.660.585|C11.187.781|C12.050.703.277.370|C16.131.621.585|C16.300.390|C16.320.322|C23.550.393.450 Brain malformation, growth retardation, hypokinesia and polyhydramnios|Fetal akinesia syndrome X-linked|Holmes Benacerraf syndrome|X-linked form of fetal akinesia syndrome Congenital abnormality|Eye disease|Fetal disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Pregnancy complication Fetal Alcohol Spectrum Disorders MESH:D063647 An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ETHANOL during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, FETAL GROWTH RETARDATION, central nervous system abnormalities, cognitive and/or behavioral dysfunction, BIRTH DEFECTS. The level of maternal alcohol consumption does not necessarily correlate directly with disease severity. MESH:D005315|MESH:D020751 C12.050.703.277.220|C16.300.070|C25.775.100.087.323 C12.050.703.277|C16.300|C25.775.100.087 Alcohol Related Birth Defects|Alcohol-Related Birth Defects|Alcohol Related Neurodevelopmental Disorder|Birth Defects, Alcohol-Related|FAE (Fetal Alcohol Effects)|FAEs (Fetal Alcohol Effects)|FASD|FASDs|Fetal Alcohol Spectrum Disorder|Fetal Alcohol Syndrome|Growth Retardation, Facial Abnormalities, and Central Nervous System Dysfunction|Partial Fetal Alcohol Syndrome|Syndrome, Fetal Alcohol Fetal disease|Pregnancy complication|Substance-related disorder Fetal Death MESH:D005313 Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH. MESH:D003643|MESH:D011248 C12.050.703.223|C23.550.260.585 C12.050.703|C23.550.260 Death, Fetal|Deaths, Fetal|Demise, Fetal|Fetal Deaths|Fetal Demise|Fetal Mummification|Mummification, Fetal Pathology (process)|Pregnancy complication Fetal Diseases MESH:D005315 Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES. MESH:D009358|MESH:D011248 C12.050.703.277|C16.300 C12.050.703|C16 Disease, Fetal|Diseases, Fetal|Embryopathies|Embryopathy|Fetal Disease Fetal disease|Pregnancy complication Fetal Distress MESH:D005316 A nonreassuring fetal status (NRFS) indicating that the FETUS is compromised (American College of Obstetricians and Gynecologists 1988). It can be identified by sub-optimal values in FETAL HEART RATE; oxygenation of FETAL BLOOD; and other parameters. MESH:D012816 C23.888.380 C23.888 Fetal Status, Nonreassuring|Nonreassuring Fetal Status Signs and symptoms FETAL ENCASEMENT SYNDROME OMIM:613630 DO:DOID:0060647 MESH:D000015|MESH:D005315|MESH:D012868|MESH:D017880|MESH:D019465 C05.660.207/613630|C05.660.585/613630|C12.050.703.277/613630|C16.131.077/613630|C16.131.621.207/613630|C16.131.621.585/613630|C16.131.831/613630|C16.300/613630|C17.800.804/613630 C05.660.207|C05.660.585|C12.050.703.277|C16.131.077|C16.131.621.207|C16.131.621.585|C16.131.831|C16.300|C17.800.804 COCOON SYNDROME Congenital abnormality|Fetal disease|Musculoskeletal disease|Pregnancy complication|Skin disease Fetal Growth Retardation MESH:D005317 Failure of a FETUS to attain expected GROWTH. MESH:D005315|MESH:D006130 C12.050.703.277.370|C16.300.390|C23.550.393.450 C12.050.703.277|C16.300|C23.550.393 Fetal Growth Restriction|Growth Retardation, Intrauterine|Intrauterine Growth Restriction|Intrauterine Growth Retardation Fetal disease|Pathology (process)|Pregnancy complication Fetal hydantoin syndrome MESH:C537922 MESH:D000014 C16.131.042/C537922 C16.131.042 Dilantin Embryopathy|Phenytoin Embryopathy Congenital abnormality Fetal Hypoxia MESH:D005311 Deficient oxygenation of FETAL BLOOD. MESH:D000860|MESH:D005315 C12.050.703.277.390|C16.300.420|C23.888.852.079.594 C12.050.703.277|C16.300|C23.888.852.079 Anoxia, Fetal|Fetal Anoxia|Hypoxia, Fetal Fetal disease|Pregnancy complication|Signs and symptoms fetal inflammatory response syndrome MESH:C000719624 MESH:D005315|MESH:D018746 C12.050.703.277/C000719624|C16.300/C000719624|C23.550.470.790/C000719624|C23.550.835.900/C000719624 C12.050.703.277|C16.300|C23.550.470.790|C23.550.835.900 chorioamnionitis-induced fetal inflammatory response syndrome|chorioamnionitis-induced FIRS|fetal sepsis-induced fetal inflammatory response syndrome|FIRS fetal inflammatory response syndrome|lipopolysaccharide-induced fetal inflammatory response syndrome|LPS-induced fetal inflammatory response syndrome|LPS-induced FIRS|sepsis-induced fetal inflammatory response syndrome|sepsis-induced FIRS Fetal disease|Pathology (process)|Pregnancy complication Fetal Macrosomia MESH:D005320 A condition of fetal overgrowth defined as BIRTH WEIGHT greater than 4,000 grams, regardless of gestational age. It is commonly seen in GESTATIONAL DIABETES; PROLONGED PREGNANCY; and pregnancies complicated by pre-existing diabetes mellitus. MESH:D001724|MESH:D005315|MESH:D011254|MESH:D016640|MESH:D048909 C12.050.703.170.500|C12.050.703.277.570|C12.050.703.726.570|C16.300.570|C19.246.099.968|C23.888.144.186.500 C12.050.703.170|C12.050.703.277|C12.050.703.726|C16.300|C19.246.099|C23.888.144.186 Fetal Macrosomias|Macrosomia, Fetal|Macrosomias, Fetal Endocrine system disease|Fetal disease|Pregnancy complication|Signs and symptoms Fetal Membranes, Premature Rupture MESH:D005322 Spontaneous tearing of the membranes surrounding the FETUS any time before the onset of OBSTETRIC LABOR. Preterm PROM is membrane rupture before 37 weeks of GESTATION. MESH:D007744 C12.050.703.420.339 C12.050.703.420 Membrane Premature Rupture (Pregnancy)|Membrane Premature Ruptures (Pregnancy)|Premature Rupture of Fetal Membranes|Premature Rupture of Membrane (Pregnancy)|Preterm Premature Rupture of Fetal Membranes|Preterm PROM (Pregnancy)|PROM (Pregnancy)|PROM, Preterm (Pregnancy) Pregnancy complication Fetal Nutrition Disorders MESH:D048070 Disorders caused by nutritional imbalance, either overnutrition or undernutrition, in the FETUS in utero. MESH:D005315|MESH:D044342 C12.050.703.277.677|C18.654.521.625 C12.050.703.277|C18.654.521 Fetal Malnutrition|Fetal Nutrition Disorder|Malnutrition, Fetal|Nutrition Disorder, Fetal|Nutrition Disorders, Fetal Fetal disease|Nutrition disorder|Pregnancy complication Fetal Resorption MESH:D005327 The disintegration and assimilation of the dead FETUS in the UTERUS at any stage after the completion of organogenesis which, in humans, is after the 9th week of GESTATION. It does not include embryo resorption (see EMBRYO LOSS). MESH:D005313 C12.050.703.223.300|C23.550.260.585.260 C12.050.703.223|C23.550.260.585 Fetal Resorptions|Resorption, Fetal|Resorptions, Fetal Pathology (process)|Pregnancy complication Fetal trimethadione syndrome MESH:C537798 MESH:D000014 C16.131.042/C537798 C16.131.042 Trimethadione embryopathy Congenital abnormality Fetal Weight MESH:D020567 The weight of the FETUS in utero. It is usually estimated by various formulas based on measurements made during PRENATAL ULTRASONOGRAPHY. MESH:D001835 C23.888.144.300 C23.888.144 Body Weight, Fetal|Body Weights, Fetal|Fetal Body Weight|Fetal Body Weights|Fetal Weights|Weight, Fetal|Weights, Fetal Signs and symptoms Fetishism, Psychiatric MESH:D005329 DO:DOID:1235 A condition in which inanimate objects are utilized as a preferred or exclusive method of stimulating erotic arousal. MESH:D010262 F03.657.350 F03.657 Fetishism (Psychiatric)|Psychiatric Fetishism Mental disorder Fetofetal Transfusion MESH:D005330 DO:DOID:13576 Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8) MESH:D000751 C15.378.071.363.344|C16.614.053.344 C15.378.071.363|C16.614.053 Cross Transfusion, Intrauterine|Cross-Transfusion, Intrauterine|Fetal Transfusion Syndrome|Fetal Transfusion Syndromes|Fetofetal Transfusions|Fetofetal Transfusion Syndrome|Fetofetal Transfusion Syndromes|Intrauterine Cross Transfusion|Intrauterine Cross-Transfusion|Intrauterine Cross-Transfusions|Syndrome, Fetal Transfusion|Syndrome, Fetofetal Transfusion|Syndrome, Twin-to-Twin Transfusion|Syndrome, Twin Transfusion|Transfusion, Fetofetal|Transfusion Syndrome, Fetal|Transfusion Syndrome, Fetofetal|Transfusion Syndrome, Twin|Transfusion Syndrome, Twin-to-Twin|Transfusion, Twin|Transfusion, Twin-to-Twin|Twin to Twin Transfusion|Twin-to-Twin Transfusion|Twin-to-Twin Transfusions|Twin to Twin Transfusion Syndrome|Twin-to-Twin Transfusion Syndrome|Twin-to-Twin Transfusion Syndromes|Twin Transfusion|Twin Transfusions|Twin Transfusion Syndrome|Twin Transfusion Syndromes|Twin Twin Transfusion Syndrome Blood disease|Infant-newborn disease Fetomaternal Transfusion MESH:D005331 Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed) MESH:D000751 C15.378.071.363.511|C16.614.053.511 C15.378.071.363|C16.614.053 Fetomaternal Hemorrhage|Fetomaternal Hemorrhages|Fetomaternal Transfusions|Hemorrhage, Fetomaternal|Hemorrhages, Fetomaternal|Transfusion, Fetomaternal|Transfusions, Fetomaternal Blood disease|Infant-newborn disease Fever MESH:D005334 An abnormal elevation of body temperature, usually as a result of a pathologic process. MESH:D001832 C23.888.119.344 C23.888.119 Fevers|Pyrexia|Pyrexias Signs and symptoms Fever, Familial Lifelong Persistent MESH:C565569 MESH:D005335 C23.888.119.344.345/C565569 C23.888.119.344.345 Signs and symptoms Fever of Unknown Origin MESH:D005335 Fever in which the etiology cannot be ascertained. MESH:D005334 C23.888.119.344.345 C23.888.119.344 Unknown Origin Fever|Unknown Origin Fevers Signs and symptoms Fg Syndrome 5 MESH:C564480 OMIM:300581 MESH:D003248|MESH:D008607|MESH:D019465|MESH:D040181 C05.660.207/C564480|C10.597.606.360/C564480|C16.131.621.207/C564480|C16.320.322/C564480|C23.888.592.604.646/C564480|C23.888.821.150/C564480|F03.625.539/C564480 C05.660.207|C10.597.606.360|C16.131.621.207|C16.320.322|C23.888.592.604.646|C23.888.821.150|F03.625.539 FGS5 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Fibrinolytic Defect MESH:C565017 MESH:D001778 C15.378.100/C565017 C15.378.100 Blood disease Fibroadenoma MESH:D018226 DO:DOID:1618 An adenoma containing fibrous tissue. It should be differentiated from ADENOFIBROMA which is a tumor composed of connective tissue (fibroma) containing glandular (adeno-) structures. (From Dorland, 27th ed) MESH:D018225 C04.557.450.565.590.595.350|C04.557.470.625.350 C04.557.450.565.590.595|C04.557.470.625 Fibroadenomas Cancer Fibrocartilaginous embolism MESH:C537927 MESH:D002357|MESH:D004617 C05.182/C537927|C14.907.355.350/C537927|C17.300.182/C537927 C05.182|C14.907.355.350|C17.300.182 Embolism, fibrocartilaginous|Nucleus pulposus embolism Cardiovascular disease|Connective tissue disease|Musculoskeletal disease Fibrochondrogenesis MESH:C562524 DO:DOID:0060465|OMIM:228520|OMIM:614524 MESH:D000015|MESH:D004392|MESH:D019066 C05.116.099.343/C562524|C16.131.077/C562524|C16.320.240/C562524|C19.297/C562524|C23.550.291.812/C562524 C05.116.099.343|C16.131.077|C16.320.240|C19.297|C23.550.291.812 FBCG1|FBCG2|FIBROCHONDROGENESIS 1|FIBROCHONDROGENESIS 2 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Fibrocystic Breast Disease MESH:D005348 DO:DOID:10354|DO:DOID:5998 A common and benign breast disease characterized by varying degree of fibrocystic changes in the breast tissue. There are three major patterns of morphological changes, including FIBROSIS, formation of CYSTS, and proliferation of glandular tissue (adenosis). The fibrocystic breast has a dense irregular, lumpy, bumpy consistency. MESH:D001941 C17.800.090.750 C17.800.090 Adenoses, Microglandular|Adenosis, Microglandular|Adenosis of Breast|Breast Adenosis|Breast Cystic Disease|Breast Cystic Diseases|Breast Disease, Cystic|Breast Disease, Fibrocystic|Breast Dysplasia|Breast Fibrocystic Change|Breast Fibrocystic Changes|Breast Fibrocystic Disease|Chronic Cystic Mastitis|Cystic Breast Disease|Cystic Disease of Breast|Cystic Mastitis, Chronic|Disease, Cystic Breast|Disease, Fibrocystic Breast|Dysplasia, Breast|Dysplasia, Mammary|Fibrocystic Changes of Breast|Fibrocystic Disease of Breast|Fibrocystic Mastopathy|Mammary Dysplasia|Mastopathy, Fibrocystic|Microglandular Adenoses|Microglandular Adenosis Skin disease Fibrolamellar hepatocellular carcinoma MESH:C537258 DO:DOID:5015 MESH:D006528 C04.557.470.200.025.255/C537258|C04.588.274.623.160/C537258|C06.301.623.160/C537258|C06.552.697.160/C537258 C04.557.470.200.025.255|C04.588.274.623.160|C06.301.623.160|C06.552.697.160 Fibrolamellar variant of hepatocellular carcinoma|Hepatocellular carcinoma (fibrolamellar variant) Cancer|Digestive system disease Fibroma MESH:D005350 DO:DOID:0050871 A benign tumor of fibrous or fully developed connective tissue. MESH:D018218 C04.557.450.565.590.340 C04.557.450.565.590 Fibromas|Fibromatoses|Fibromatosis|Fibromyxoma|Fibromyxomas|Myxofibroma|Myxofibromas Cancer Fibroma, Desmoplastic MESH:D018220 An extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441) MESH:D005350 C04.557.450.565.590.340.345 C04.557.450.565.590.340 Collagenous Fibroma|Collagenous Fibromas|Desmoplastic Fibroblastoma|Desmoplastic Fibroblastomas|Desmoplastic Fibroma|Desmoplastic Fibromas|Fibroblastoma, Desmoplastic|Fibroma, Collagenous Cancer Fibroma, Ossifying MESH:D018214 DO:DOID:180 A benign central bone tumor, usually of the jaws (especially the mandible), composed of fibrous connective tissue within which bone is formed. MESH:D005350|MESH:D018213 C04.557.450.565.575.400|C04.557.450.565.590.340.360 C04.557.450.565.575|C04.557.450.565.590.340 Fibromas, Ossifying|Ossifying Fibroma|Ossifying Fibromas Cancer Fibromatosis, Abdominal MESH:D018221 A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed) MESH:D005350 C04.557.450.565.590.340.400 C04.557.450.565.590.340 Abdominal Fibromatoses|Abdominal Fibromatosis|Fibromatoses, Abdominal Cancer Fibromatosis, Aggressive MESH:D018222 A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed) MESH:D005350 C04.557.450.565.590.340.410 C04.557.450.565.590.340 Aggressive Fibromatoses|Aggressive Fibromatosis|Desmoid|Desmoids|Fibromatoses, Aggressive Cancer Fibromatosis, Congenital Generalized MESH:C562978 OMIM:228550|OMIM:615293 MESH:D018224 C04.557.450.565.590.550/C562978 C04.557.450.565.590.550 CGF|FIBROMATOSIS, CONGENITAL GENERALIZED|IMF1|IMF2|Myofibromatosis, Infantile|MYOFIBROMATOSIS, INFANTILE, 1|MYOFIBROMATOSIS, INFANTILE, 2|Myofibromatosis, Juvenile Cancer Fibromatosis, Gingival MESH:D005351 Generalized or localized diffuse fibrous overgrowth of the gingival tissue, usually transmitted as an autosomal dominant trait, but some cases are idiopathic and others produced by drugs. The enlarged gingiva is pink, firm, and has a leather-like consistency with a minutely pebbled surface and in severe cases the teeth are almost completely covered and the enlargement projects into the oral vestibule. (Dorland, 28th ed) MESH:D009056|MESH:D019214 C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C16.131.850.525.304 C07.465.525|C07.465.714.258.428|C07.650.525|C16.131.850.525 Fibromatoses, Gingival|Fibromatosis Gingivae|Gingival Fibromatoses|Gingival Fibromatosis Congenital abnormality|Mouth disease FIBROMATOSIS, GINGIVAL, 1 OMIM:135300 DO:DOID:0060466 MESH:D005351 C07.465.525.304/135300|C07.465.714.258.428.200/135300|C07.650.525.304/135300|C16.131.850.525.304/135300 C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C16.131.850.525.304 FIBROMATOSIS, GINGIVAL, HEREDITARY|GGF1|GINGF|GINGF1|HGF Congenital abnormality|Mouth disease Fibromatosis, Gingival, 2 MESH:C565323 OMIM:605544 MESH:D005351 C07.465.525.304/C565323|C07.465.714.258.428.200/C565323|C07.650.525.304/C565323|C16.131.850.525.304/C565323 C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C16.131.850.525.304 Fibromatosis, Gingival, Hereditary, 2|GGF2|GINGF2|HGF2 Congenital abnormality|Mouth disease Fibromatosis, gingival, 3 MESH:C537928 OMIM:609955 MESH:D005351 C07.465.525.304/C537928|C07.465.714.258.428.200/C537928|C07.650.525.304/C537928|C16.131.850.525.304/C537928 C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C16.131.850.525.304 Fibromatosis, gingival, hereditary, 3|GGF3|GINGF3|HGF3 Congenital abnormality|Mouth disease Fibromatosis, Gingival, 4 MESH:C567028 OMIM:611010 MESH:D005351 C07.465.525.304/C567028|C07.465.714.258.428.200/C567028|C07.650.525.304/C567028|C16.131.850.525.304/C567028 C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C16.131.850.525.304 Fibromatosis, Gingival, Hereditary, 4|GGF4|GINGF4|HGF4 Congenital abnormality|Mouth disease Fibromatosis, Gingival, Hereditary MESH:C562884 DO:DOID:0060466 MESH:D005351 C07.465.525.304/C562884|C07.465.714.258.428.200/C562884|C07.650.525.304/C562884|C16.131.850.525.304/C562884 C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C16.131.850.525.304 Fibromatosis, Gingival, Type 1|GINGF1 Congenital abnormality|Mouth disease Fibromatosis, Gingival, with Distinctive Facies MESH:C565567 MESH:D005351|MESH:D019066 C07.465.525.304/C565567|C07.465.714.258.428.200/C565567|C07.650.525.304/C565567|C16.131.850.525.304/C565567|C23.550.291.812/C565567 C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C16.131.850.525.304|C23.550.291.812 Congenital abnormality|Mouth disease|Pathology (process) Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation MESH:C565331 MESH:D000015|MESH:D005351|MESH:D006228|MESH:D006983|MESH:D008607 C05.390.408/C565331|C05.660.585.988.425/C565331|C07.465.525.304/C565331|C07.465.714.258.428.200/C565331|C07.650.525.304/C565331|C10.597.606.360/C565331|C16.131.077/C565331|C16.131.621.585.988.500/C565331|C16.131.850.525.304/C565331|C17.800.329.875/C565331|C23.888.592.604.646/C565331|F03.625.539/C565331 C05.390.408|C05.660.585.988.425|C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C10.597.606.360|C16.131.077|C16.131.621.585.988.500|C16.131.850.525.304|C17.800.329.875|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Fibromatosis, Plantar MESH:D000071380 DO:DOID:8936 A fibromatosis of the plantar fascia characterized by thickening of the fibrous bands on the plantar aponeurosis in the sole of the foot and toes. MESH:D003240|MESH:D003286|MESH:D005350|MESH:D005534 C04.557.450.565.590.340.705|C05.360.375|C05.651.197.369|C17.300.349|C17.800.321.063 C04.557.450.565.590.340|C05.360|C05.651.197|C17.300|C17.800.321 Ledderhose Disease|Ledderhose's Disease|Plantar Fibromatosis Cancer|Connective tissue disease|Musculoskeletal disease|Skin disease Fibromuscular Dysplasia MESH:D005352 An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity. MESH:D001157 C14.907.137.372 C14.907.137 Arteries Fibromuscular Dysplasia|Arteries Fibromuscular Dysplasias|Dysplasia, Fibromuscular|Fibromuscular Dysplasia of Arteries|Fibromuscular Dysplasias Cardiovascular disease Fibromyalgia MESH:D005356 DO:DOID:631 A common nonarticular rheumatic syndrome characterized by myalgia and multiple points of focal muscle tenderness to palpation (trigger points). Muscle pain is typically aggravated by inactivity or exposure to cold. This condition is often associated with general symptoms, such as sleep disturbances, fatigue, stiffness, HEADACHES, and occasionally DEPRESSION. There is significant overlap between fibromyalgia and the chronic fatigue syndrome (FATIGUE SYNDROME, CHRONIC). Fibromyalgia may arise as a primary or secondary disease process. It is most frequent in females aged 20 to 50 years. (From Adams et al., Principles of Neurology, 6th ed, p1494-95) MESH:D009135|MESH:D012216 C05.651.324|C05.799.321|C10.668.491.425 C05.651|C05.799|C10.668.491 Diffuse Myofascial Pain Syndrome|Fibromyalgia Fibromyositis Syndrome|Fibromyalgia-Fibromyositis Syndrome|Fibromyalgia-Fibromyositis Syndromes|Fibromyalgia, Primary|Fibromyalgias|Fibromyalgia, Secondary|Fibromyalgias, Primary|Fibromyalgias, Secondary|Fibromyositis Fibromyalgia Syndrome|Fibromyositis-Fibromyalgia Syndrome|Fibromyositis-Fibromyalgia Syndromes|Fibrositides|Fibrositis|Muscular Rheumatism|Myofascial Pain Syndrome, Diffuse|Primary Fibromyalgia|Primary Fibromyalgias|Rheumatism, Muscular|Secondary Fibromyalgia|Secondary Fibromyalgias|Syndrome, Fibromyalgia-Fibromyositis|Syndrome, Fibromyositis-Fibromyalgia|Syndromes, Fibromyalgia-Fibromyositis|Syndromes, Fibromyositis-Fibromyalgia Musculoskeletal disease|Nervous system disease Fibrosarcoma MESH:D005354 DO:DOID:3355 A sarcoma derived from deep fibrous tissue, characterized by bundles of immature proliferating fibroblasts with variable collagen formation, which tends to invade locally and metastasize by the bloodstream. (Stedman, 25th ed) MESH:D012509|MESH:D018218 C04.557.450.565.590.350|C04.557.450.795.350 C04.557.450.565.590|C04.557.450.795 Fibrosarcomas Cancer Fibrosis MESH:D005355 Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. MESH:D010335 C23.550.355 C23.550 Cirrhosis|Fibroses Pathology (process) Fibrosis Of Extraocular Muscles, Congenital, 2 MESH:C566587 OMIM:602078 MESH:D001763|MESH:D005355|MESH:D009886|MESH:D015785 C10.292.562.750/C566587|C10.597.622.447/C566587|C11.270/C566587|C11.338.204/C566587|C11.590.472/C566587|C16.320.290/C566587|C23.550.355/C566587|C23.888.592.636.447/C566587 C10.292.562.750|C10.597.622.447|C11.270|C11.338.204|C11.590.472|C16.320.290|C23.550.355|C23.888.592.636.447 CFEOM2|FEOM2 LOCUS|Fibrosis Of Extraocular Muscles, Congenital, Autosomal Recessive Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Signs and symptoms Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement MESH:C567572 OMIM:600638 MESH:D005355|MESH:D015785|MESH:D015835 C10.228.758/C567572|C10.292.562/C567572|C11.270/C567572|C11.590/C567572|C16.320.290/C567572|C23.550.355/C567572 C10.228.758|C10.292.562|C11.270|C11.590|C16.320.290|C23.550.355 CFEOM3A|FEOM3 LOCUS Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process) Fibrosis of Extraocular Muscles, Congenital, 3B MESH:C567739 OMIM:135700 MESH:D005355|MESH:D015785|MESH:D015835 C10.228.758/C567739|C10.292.562/C567739|C11.270/C567739|C11.590/C567739|C16.320.290/C567739|C23.550.355/C567739 C10.228.758|C10.292.562|C11.270|C11.590|C16.320.290|C23.550.355 Blepharoptosis with Absent Eye Movements|CFEOM1|CFEOM3B|CFEOM3B, INCLUDED|FEOM1|FEOM1 LOCUS FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED|Fibrosis Of Extraocular Muscles, Congenital, 1|Ophthalmoplegia, Congenital Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process) Fibrosis of Extraocular Muscles, Congenital, 3C MESH:C567666 MESH:D005355|MESH:D015785|MESH:D015835 C10.228.758/C567666|C10.292.562/C567666|C11.270/C567666|C11.590/C567666|C16.320.290/C567666|C23.550.355/C567666 C10.228.758|C10.292.562|C11.270|C11.590|C16.320.290|C23.550.355 CFEOM3C Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process) FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 OMIM:616219 DO:DOID:0081020 MESH:D015785 C11.270/616219|C16.320.290/616219 C11.270|C16.320.290 CFEOM5 Eye disease|Genetic disease (inborn) fibrosis of extraocular muscles, congenital, with synergistic divergence MESH:C566508 MESH:D000093922|MESH:D005355 C10.292.562.700.375/C566508|C10.500.198/C566508|C11.590.436.400/C566508|C16.131.666.198/C566508|C23.550.355/C566508 C10.292.562.700.375|C10.500.198|C11.590.436.400|C16.131.666.198|C23.550.355 Congenital Fibrosis Syndrome with Synergistic Divergence|External Ophthalmoplegia with Synergistic Divergence Congenital abnormality|Eye disease|Nervous system disease|Pathology (process) Fibrous Dysplasia, Monostotic MESH:D005358 FIBROUS DYSPLASIA OF BONE involving only one bone. MESH:D005357 C05.116.099.708.375.372 C05.116.099.708.375 Dysplasia, Monostotic Fibrous|Dysplasias, Monostotic Fibrous|Fibrous Dysplasias, Monostotic|Monostotic Fibrous Dysplasia|Monostotic Fibrous Dysplasias Musculoskeletal disease Fibrous Dysplasia of Bone MESH:D005357 A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC). MESH:D010009 C05.116.099.708.375 C05.116.099.708 Bone Fibrocartilaginous Dysplasia|Bone Fibrocartilaginous Dysplasias|Bone Fibrocystic Dysplasia|Bone Fibrocystic Dysplasias|Bone Fibrous Dysplasia|Bone Fibrous Dysplasias|Fibrocartilaginous Dysplasia of Bone|Fibrocystic Dysplasia of Bone|Jaffe Lichtenstein Disease|Jaffe-Lichtenstein Disease|Osteitis Fibrosa Disseminata Musculoskeletal disease Fibrous Dysplasia, Polyostotic MESH:D005359 DO:DOID:1858|OMIM:174800 FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are additionally associated it is referred to as Albright syndrome. MESH:D005357 C05.116.099.708.375.381 C05.116.099.708.375 Albright-Mccune-Sternberg Syndrome|Albright's Disease|Albright's Disease of Bone|Albright's Syndrome|Albright's Syndrome with Precocious Puberty|Albright-Sternberg Syndrome|Albright Syndrome|ALBRIGHT SYNDROME POLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED|Dysplasia, Polyostotic Fibrous|Dysplasias, Polyostotic Fibrous|Fibrous Dysplasias, Polyostotic|Fibrous Dysplasia with Pigmentary Skin Changes and Precocious Puberty|MAS|McCune Albright Syndrome|McCune-Albright Syndrome|PFD, INCLUDED|POFD, INCLUDED|Polyostotic Fibrous Dysplasia|Polyostotic Fibrous Dysplasias|Syndrome, Albright|Syndrome, Albright's|Syndrome, McCune-Albright Musculoskeletal disease Fibula Fractures MESH:D000092504 Fractures of the FIBULA. MESH:D050723 C26.404.023 C26.404 Dislocation, Maisonneuve Fracture|Fibula Fracture|Fibula Shaft Fracture|Fibula Shaft Fractures|Fracture Dislocation, Maisonneuve|Fracture, Fibula|Fracture, Fibula Shaft|Fracture, Maisonneuve|Maisonneuve Fracture|Maisonneuve Fracture Dislocation|Shaft Fracture, Fibula Wounds and injuries Fibular aplasia ectrodactyly MESH:C537930 MESH:D059327 C05.660.585.262/C537930|C16.131.621.585.262/C537930 C05.660.585.262|C16.131.621.585.262 Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia Congenital abnormality|Musculoskeletal disease Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome MESH:C565436 MESH:D005532|MESH:D006228|MESH:D013576|MESH:D055036 C05.116.099.370.894.819/C565436|C05.330.495/C565436|C05.390.408/C565436|C05.660.142/C565436|C05.660.585.512.380/C565436|C05.660.585.800/C565436|C05.660.585.988.425/C565436|C05.660.906.819/C565436|C16.131.621.142/C565436|C16.131.621.585.512.500/C565436|C16.131.621.585.800/C565436|C16.131.621.585.988.500/C565436|C16.131.621.906.819/C565436 C05.116.099.370.894.819|C05.330.495|C05.390.408|C05.660.142|C05.660.585.512.380|C05.660.585.800|C05.660.585.988.425|C05.660.906.819|C16.131.621.142|C16.131.621.585.512.500|C16.131.621.585.800|C16.131.621.585.988.500|C16.131.621.906.819 Fatco Syndrome Congenital abnormality|Musculoskeletal disease Fibula, Recurrent Dislocation of Head of MESH:C565011 MESH:D004204 C05.550.518/C565011|C26.289/C565011 C05.550.518|C26.289 Musculoskeletal disease|Wounds and injuries Fibular hypoplasia and complex brachydactyly MESH:C537931 DO:DOID:0050790|OMIM:228900 MESH:D059327 C05.660.585.262/C537931|C16.131.621.585.262/C537931 C05.660.585.262|C16.131.621.585.262 ACROMESOMELIC DYSPLASIA 2B|AMD2B|DUPANS|Du Pan syndrome|FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY Congenital abnormality|Musculoskeletal disease FICOLIN 3 DEFICIENCY OMIM:613860 MESH:D007153 C20.673/613860 C20.673 FCN3 DEFICIENCY|LCAPD3|LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3 Immune system disease Filaminopathy, autosomal dominant MESH:C537932 OMIM:609524 MESH:D009136 C05.651.534.500/C537932|C10.668.491.175.500/C537932|C16.320.577/C537932 C05.651.534.500|C10.668.491.175.500|C16.320.577 Filamin C-related myofibrillar myopathy|FILAMINOPATHY, AUTOSOMAL DOMINANT|MFM5|Mfm, Filamin C-Related|Myofibrillar myopathy, filamin C-related|MYOPATHY, MYOFIBRILLAR, 5|Myopathy, Myofibrillar, Filamin C-Related Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Filariasis MESH:D005368 DO:DOID:1080 Infections with nematodes of the superfamily FILARIOIDEA. The presence of living worms in the body is mainly asymptomatic but the death of adult worms leads to granulomatous inflammation and permanent fibrosis. Organisms of the genus Elaeophora infect wild elk and domestic sheep causing ischemic necrosis of the brain, blindness, and dermatosis of the face. MESH:D017205 C01.610.335.508.700.750.361 C01.610.335.508.700.750 Elaeophoriases|Elaeophoriasis|Filariases|Filarioidea Infection|Filarioidea Infections|Infection, Filarioidea|Infections, Filarioidea Parasitic disease Filippi syndrome MESH:C538152 DO:DOID:0112194|OMIM:272440 MESH:D006130|MESH:D008607|MESH:D008831|MESH:D013576|MESH:D019066 C05.116.099.370.894.819/C538152|C05.660.207.620/C538152|C05.660.585.800/C538152|C05.660.906.819/C538152|C10.500.507.400.500/C538152|C10.597.606.360/C538152|C16.131.621.207.620/C538152|C16.131.621.585.800/C538152|C16.131.621.906.819/C538152|C16.131.666.507.400.500/C538152|C23.550.291.812/C538152|C23.550.393/C538152|C23.888.592.604.646/C538152|F03.625.539/C538152 C05.116.099.370.894.819|C05.660.207.620|C05.660.585.800|C05.660.906.819|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.621.585.800|C16.131.621.906.819|C16.131.666.507.400.500|C23.550.291.812|C23.550.393|C23.888.592.604.646|F03.625.539 FLPIS|SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION|Syndactyly type I with microcephaly and mental retardation|Syndactyly, Type I, With Microcephaly And Mental Retardation Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Filoviridae Infections MESH:D018702 Infections with viruses of the family FILOVIRIDAE. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown. MESH:D018701 C01.925.782.580.250 C01.925.782.580 Filoviridae Infection|Filovirus Infection|Filovirus Infections|Infection, Filoviridae|Infection, Filovirus|Infections, Filoviridae Viral disease Fine-Lubinsky syndrome MESH:C537933 MESH:D000015|MESH:D002386|MESH:D003398|MESH:D003638|MESH:D008607 C05.116.099.370.894.232/C537933|C05.660.207.240/C537933|C05.660.906.364/C537933|C09.218.458.341.186/C537933|C10.597.606.360/C537933|C10.597.751.418.341.186/C537933|C11.510.245/C537933|C16.131.077/C537933|C16.131.621.207.240/C537933|C16.131.621.906.364/C537933|C23.888.592.604.646/C537933|C23.888.592.763.393.341.186/C537933|F03.625.539/C537933 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C09.218.458.341.186|C10.597.606.360|C10.597.751.418.341.186|C11.510.245|C16.131.077|C16.131.621.207.240|C16.131.621.906.364|C23.888.592.604.646|C23.888.592.763.393.341.186|F03.625.539 Brachycephaly, deafness, cataract and mental retardation|Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation Congenital abnormality|Ear-nose-throat disease|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Finger Injuries MESH:D005383 General or unspecified injuries involving the fingers. MESH:D006230 C26.448.429 C26.448 Finger Injury|Injuries, Finger|Injury, Finger Wounds and injuries Fingerprint Body Myopathy MESH:C564425 MESH:D009135 C05.651/C564425|C10.668.491/C564425 C05.651|C10.668.491 Musculoskeletal disease|Nervous system disease Fingerprints, Absence of MESH:C565010 OMIM:136000 MESH:D012873 C16.320.850/C565010|C17.800.827/C565010 C16.320.850|C17.800.827 ADERM|ADERMATOGLYPHIA|FINGERPRINTS, ABSENCE OF Genetic disease (inborn)|Skin disease Finnish lethal neonatal metabolic syndrome MESH:C537934 DO:DOID:0111455|OMIM:603358 MESH:D000140|MESH:D000608|MESH:D002779|MESH:D005317|MESH:D006486|MESH:D008661|MESH:D028361 C06.130.120.135/C537934|C12.050.351.968.419.815.885/C537934|C12.050.703.277.370/C537934|C12.200.777.419.815.885/C537934|C12.950.419.815.885/C537934|C16.300.390/C537934|C16.320.565/C537934|C16.320.831.885/C537934|C18.452.076.176.180/C537934|C18.452.565.500.500/C537934|C18.452.648/C537934|C18.452.660/C537934|C23.550.393.450/C537934 C06.130.120.135|C12.050.351.968.419.815.885|C12.050.703.277.370|C12.200.777.419.815.885|C12.950.419.815.885|C16.300.390|C16.320.565|C16.320.831.885|C18.452.076.176.180|C18.452.565.500.500|C18.452.648|C18.452.660|C23.550.393.450 Fellman syndrome|Finnish, lactic acidosis with hepatic hemosiderosis|FINNISH LETHAL NEONATAL METABOLIC SYNDROME|FLNMS|GRACILE syndrome|GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH|Lactic Acidosis, Finnish, With Hepatic Hemosiderosis Digestive system disease|Fetal disease|Genetic disease (inborn)|Metabolic disease|Pathology (process)|Pregnancy complication|Urogenital disease (female)|Urogenital disease (male) Firesetting Behavior MESH:D005391 DO:DOID:12402 A compulsion to set fires. MESH:D007174 F03.250.300 F03.250 Arson|Arsons|Behavior, Firesetting|Behaviors, Firesetting|Firesetting Behaviors|Pyromania|Pyromanias Mental disorder Fish Diseases MESH:D005393 Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates). MESH:D000820 C22.362 C22 Disease, Fish|Diseases, Fish|Fish Disease Animal disease Fissure in Ano MESH:D005401 A painful linear tear at the margin of the anus. It appears as a crack or slit in the mucous membrane of the anus and is very painful and difficult to heal. MESH:D001004 C06.405.469.860.101.430 C06.405.469.860.101 Anal Fissure|Anal Ulcer|Anal Ulcers|Fissure, Anal|Ulcer, Anal|Ulcers, Anal Digestive system disease Fistula MESH:D005402 Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body. MESH:D020763 C23.300.575 C23.300 Fistulas Pathology (anatomical condition) Fitz-Hugh-Curtis syndrome MESH:C537936 MESH:D000292|MESH:D006505|MESH:D010538 C01.463.600/C537936|C01.635.500/C537936|C06.552.380/C537936|C06.844.640/C537936|C12.050.351.500.056.750/C537936|C12.100.250.056.750/C537936 C01.463.600|C01.635.500|C06.552.380|C06.844.640|C12.050.351.500.056.750|C12.100.250.056.750 Gonococcal Perihepatitis|Perihepatitis Syndrome Digestive system disease|Urogenital disease (female) Fitzsimmons-Guilbert syndrome MESH:C537938 MESH:D004401|MESH:D015419|MESH:D059327 C05.660.585.262/C537938|C10.500.300.820/C537938|C10.574.500.495.820/C537938|C10.597.606.150.500.800.150.200/C537938|C10.668.829.800.300.820/C537938|C16.131.621.585.262/C537938|C16.131.666.300.820/C537938|C16.320.400.375.820/C537938|C23.888.592.604.150.500.800.150.200/C537938 C05.660.585.262|C10.500.300.820|C10.574.500.495.820|C10.597.606.150.500.800.150.200|C10.668.829.800.300.820|C16.131.621.585.262|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.604.150.500.800.150.200 Fitzsimmons syndrome|Spastic paraplegia associated with brachydactyly type E Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Fitzsimmons-McLachlan-Gilbert syndrome MESH:C537058 MESH:D007645|MESH:D008607|MESH:D015419 C10.500.300.820/C537058|C10.574.500.495.820/C537058|C10.597.606.360/C537058|C10.668.829.800.300.820/C537058|C16.131.666.300.820/C537058|C16.320.400.375.820/C537058|C16.320.850.475/C537058|C17.800.428.435/C537058|C17.800.827.475/C537058|C23.888.592.604.646/C537058|F03.625.539/C537058 C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C16.320.850.475|C17.800.428.435|C17.800.827.475|C23.888.592.604.646|F03.625.539 Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Fitzsimmons Walson Mellor syndrome MESH:C537937 MESH:D005922|MESH:D006319|MESH:D008607|MESH:D009128|MESH:D015419 C05.651.512/C537937|C09.218.458.341.887/C537937|C10.500.300.820/C537937|C10.574.500.495.820/C537937|C10.597.606.360/C537937|C10.597.613.550.550/C537937|C10.597.751.418.341.887/C537937|C10.668.829.800.300.820/C537937|C12.050.351.968.419.570.363.608/C537937|C12.200.777.419.570.363.608/C537937|C12.950.419.570.363.608/C537937|C16.131.666.300.820/C537937|C16.320.400.375.820/C537937|C20.111.525/C537937|C23.888.592.604.646/C537937|C23.888.592.608.550.550/C537937|C23.888.592.763.393.341.887/C537937|F03.625.539/C537937 C05.651.512|C09.218.458.341.887|C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.597.613.550.550|C10.597.751.418.341.887|C10.668.829.800.300.820|C12.050.351.968.419.570.363.608|C12.200.777.419.570.363.608|C12.950.419.570.363.608|C16.131.666.300.820|C16.320.400.375.820|C20.111.525|C23.888.592.604.646|C23.888.592.608.550.550|C23.888.592.763.393.341.887|F03.625.539 Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Immune system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Flail Chest MESH:D005409 A complication of multiple RIB FRACTURES; RIB and STERNUM fractures, or thoracic surgery. A portion of the THORACIC WALL becomes isolated from the RIB CAGE and exhibits paradoxical respiration. MESH:D013898 C26.891.315 C26.891 Chest, Flail|Chest, Stove-in|Stove in Chest|Stove-in Chest Wounds and injuries Flank Pain MESH:D021501 Pain emanating from below the RIBS and above the ILIUM. MESH:D010146 C23.888.592.612.386 C23.888.592.612 Flank Pain, Left|Flank Pain, Right|Flank Pains|Flank Pains, Left|Flank Pains, Right|Left Flank Pain|Left Flank Pains|Pain, Flank|Pain, Left Flank|Pain, Right Flank|Pains, Flank|Pains, Left Flank|Pains, Right Flank|Right Flank Pain|Right Flank Pains Signs and symptoms Flatfoot MESH:D005413 DO:DOID:0111568 Anomaly in which one or more of the arches of the feet are flat. MESH:D000070558 C05.330.488.655.250|C05.330.495.681.250|C05.660.585.512.380.813.250|C16.131.621.585.512.500.681.250 C05.330.488.655|C05.330.495.681|C05.660.585.512.380.813|C16.131.621.585.512.500.681 Acquired Adult Flatfoot Deformity|Calcaneovalgus, Talipes|Congenital Vertical Talus|Convex Foot|Convex Pes Valgus|Feet, Flat|Flatfeet|Flat Feet|Flat Foot|Flatfoot, Flexible|Flatfoot, Rigid|Flexible Flatfoot|Foot, Convex|Foot, Flat|Foot, Rocker-Bottom|Pes Planus|Pes Valgus, Congenital Convex|Pes Valgus, Convex|Rigid Flatfoot|Rocker Bottom Foot|Rocker-Bottom Foot|Splayfoot|Talipes Calcaneovalgus|Talipes Valgus|Talus, Congenital Vertical|Talus, Vertical|Valgus, Talipes|Vertical Talus|Vertical Talus, Congenital Congenital abnormality|Musculoskeletal disease Flatulence MESH:D005414 Production or presence of gas in the gastrointestinal tract which may be expelled through the anus. MESH:D012817 C23.888.821.360 C23.888.821 Flatus Signs and symptoms Flat umbilicus familial MESH:C537059 MESH:D000015 C16.131.077/C537059 C16.131.077 Flat umbilicus autosomal dominant|Flat Umbilicus, Autosomal Dominant|Umbilicus, Familial Flat Congenital abnormality Flaujeac factor deficiency MESH:C537060 DO:DOID:0111676|OMIM:228960 MESH:D001778 C15.378.100/C537060 C15.378.100 Fitzgerald Trait|FITZGERALD TRAIT KININOGEN DEFICIENCY, TOTAL, INCLUDED|FLAUJEAC TRAIT, INCLUDED|High molecular weight kininogen deficiency|HMWK Deficiency|Kininogen Deficiency, High Molecular Weight|KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT AND LOW MOLECULAR WEIGHT, INCLUDED|Kininogen Deficiency, Total|WILLIAMS TRAIT, INCLUDED Blood disease Flavimonas oryzihabitans Bacteremia MESH:C537061 MESH:D011552|MESH:D016470 C01.150.252.100/C537061|C01.150.252.400.739/C537061|C01.757.100/C537061|C23.550.470.790.500.100/C537061 C01.150.252.100|C01.150.252.400.739|C01.757.100|C23.550.470.790.500.100 Bacterial infection or mycosis|Pathology (process) Flaviviridae Infections MESH:D018178 Infections with viruses of the family FLAVIVIRIDAE. MESH:D012327 C01.925.782.350 C01.925.782 Flaviviridae Infection|Infection, Flaviviridae|Infections, Flaviviridae Viral disease Flavivirus Infections MESH:D018177 Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE. MESH:D018178 C01.925.782.350.250 C01.925.782.350 Flavivirus Infection|Infection, Flavivirus|Infections, Flavivirus Viral disease Flavobacteriaceae Infections MESH:D045826 Infections with bacteria of the family FLAVOBACTERIACEAE. MESH:D016905 C01.150.252.400.349 C01.150.252.400 Flavobacteriaceae Infection|Infection, Flavobacteriaceae|Infections, Flavobacteriaceae Bacterial infection or mycosis Flea Infestations MESH:D058267 Parasitic attack by members of the order SIPHONAPTERA. MESH:D004478 C01.610.858.211.250 C01.610.858.211 Flea Infestation|Infestation, Flea|Infestations, Flea Parasitic disease Fleck Retina, Familial Benign MESH:C565564 DO:DOID:0111677|OMIM:228980 MESH:D012164|MESH:D015785 C11.270/C565564|C11.768/C565564|C16.320.290/C565564 C11.270|C11.768|C16.320.290 FRFB Eye disease|Genetic disease (inborn) Fleck Retina of Kandori MESH:C562701 MESH:D009755 C11.966.671/C562701 C11.966.671 Eye disease Floating-Betalipoproteinemia MESH:C566265 MESH:D050171 C18.452.584.500/C566265 C18.452.584.500 Metabolic disease Floating-harbor syndrome MESH:C537062 DO:DOID:0111358|OMIM:136140 MESH:D000015|MESH:D006130|MESH:D006345|MESH:D019465 C05.660.207/C537062|C14.240.400.560.540/C537062|C14.280.400.560.540/C537062|C16.131.077/C537062|C16.131.240.400.560.540/C537062|C16.131.621.207/C537062|C23.550.393/C537062 C05.660.207|C14.240.400.560.540|C14.280.400.560.540|C16.131.077|C16.131.240.400.560.540|C16.131.621.207|C23.550.393 FLHS|Leisti-Hollander-Rimoin Syndrome|Pelletier-Leisti syndrome Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Pathology (process) Flood Factor Deficiency MESH:C565009 MESH:D020147 C15.378.100.141/C565009 C15.378.100.141 Blood disease Florid cemento-osseous dysplasia MESH:C537063 MESH:D005357|MESH:D010019 C01.160.495/C537063|C05.116.099.708.375/C537063|C05.116.165.495/C537063 C01.160.495|C05.116.099.708.375|C05.116.165.495 Musculoskeletal disease Florid cystic endosalpingiosis of the uterus MESH:C537064 MESH:D003536|MESH:D005185 C04.557.470.200.025.480/C537064|C04.557.470.590.480/C537064|C04.588.945.418.365/C537064|C12.050.351.500.056.390.390/C537064|C12.050.351.937.418.365/C537064|C12.100.250.056.390.390/C537064|C12.900.418.365/C537064 C04.557.470.200.025.480|C04.557.470.590.480|C04.588.945.418.365|C12.050.351.500.056.390.390|C12.050.351.937.418.365|C12.100.250.056.390.390|C12.900.418.365 Cystic endosalpingiosis of the uterus Cancer|Urogenital disease (female) FLOTCH syndrome MESH:C537065 MESH:D001762|MESH:D004814|MESH:D006201|MESH:D009260|MESH:D010859|MESH:D012164 C04.182.254/C537065|C11.338.133/C537065|C11.768/C537065|C17.800.329/C537065|C17.800.529/C537065|C17.800.621/C537065|C23.550.755/C537065 C04.182.254|C11.338.133|C11.768|C17.800.329|C17.800.529|C17.800.621|C23.550.755 Friedel Heid Grosshans syndrome Cancer|Eye disease|Pathology (process)|Skin disease Fluoride Poisoning MESH:D005458 Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of FLUORIDE compounds. MESH:D011041 C25.723.380 C25.723 Fluoride Poisonings|Poisoning, Fluoride|Poisonings, Fluoride Fluorosis, Dental MESH:D009050 DO:DOID:13711 A chronic endemic form of ENAMEL HYPOMINERALIZATION caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286) MESH:D000094603 C07.650.800.295.500.500|C07.793.700.295.500.500|C16.131.850.800.295.500.500 C07.650.800.295.500|C07.793.700.295.500|C16.131.850.800.295.500 Dental Fluoroses|Dental Fluorosis|Enamel, Mottled|Fluoroses, Dental|Mottled Enamel|Mottled Enamels Congenital abnormality|Mouth disease Flushing MESH:D005483 A transient reddening of the face that may be due to fever, certain drugs, exertion, or stress. MESH:D012877 C23.888.885.344 C23.888.885 Flushings Signs and symptoms Flynn Aird syndrome MESH:C537066 MESH:D002386|MESH:D002493|MESH:D003731|MESH:D006319|MESH:D007592|MESH:D012174|MESH:D012871 C05.550/C537066|C07.793.720.210/C537066|C09.218.458.341.887/C537066|C10.228/C537066|C10.597.751.418.341.887/C537066|C11.270.684/C537066|C11.510.245/C537066|C11.768.585.658.500/C537066|C16.320.290.684/C537066|C17.800/C537066|C23.888.592.763.393.341.887/C537066 C05.550|C07.793.720.210|C09.218.458.341.887|C10.228|C10.597.751.418.341.887|C11.270.684|C11.510.245|C11.768.585.658.500|C16.320.290.684|C17.800|C23.888.592.763.393.341.887 Flynn-Aird Syndrome Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Focal Cortical Dysplasia MESH:D000092222 Abnormal, non-neoplastic cell proliferation of the CEREBRAL CORTEX confined to an area in any lobe. Focal cortical dysplasia in the temporal lobe is associated with TEMPORAL LOBE EPILEPSY. MESH:D065703 C10.500.507.400.125|C16.131.666.507.400.125 C10.500.507.400|C16.131.666.507.400 Cortical Dysplasia, Focal|Dysplasia, Focal Cortical|Dysplasia, Taylor|FCD, Taylor's|Focal Cortical Dysplasias|Taylor Dysplasia|Taylor FCD|Taylor Focal Cortical Dysplasia|Taylor's FCD|Taylors FCD Congenital abnormality|Nervous system disease Focal cortical dysplasia of Taylor MESH:C537067 OMIM:607341 MESH:D004827|MESH:D065703 C10.228.140.490/C537067|C10.500.507.400/C537067|C16.131.666.507.400/C537067 C10.228.140.490|C10.500.507.400|C16.131.666.507.400 CDT|CDTBC, INCLUDED|CDTD, INCLUDED|Cortical dysplasia of Taylor|CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY, INCLUDED|Cortical Dysplasia of Taylor with Balloon Cells|CORTICAL DYSPLASIA OF TAYLOR WITH BALLOON CELLS, INCLUDED|CORTICAL DYSPLASIA OF TAYLOR WITHOUT BALLOON CELLS, INCLUDED|FCD2 FOCAL CORTICAL DYSPLASIA, TYPE IIA, INCLUDED|FCD IIA, INCLUDED|FCD IIB, INCLUDED|FCDT|FCORD2|FCORD2A, INCLUDED|FCORD2B, INCLUDED|FOCAL CORTICAL DYSPLASIA OF TAYLOR|Focal Cortical Dysplasia of Taylor, Type IIa|Focal Cortical Dysplasia of Taylor, Type IIb|Focal cortical dysplasia, type 2|Focal Cortical Dysplasia, Type II|FOCAL CORTICAL DYSPLASIA, TYPE IIB, INCLUDED Congenital abnormality|Nervous system disease Focal Dermal Hypoplasia MESH:D005489 DO:DOID:2120|OMIM:305600 A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait. MESH:D004413|MESH:D004476|MESH:D040181 C05.116.099.370.380|C16.131.077.350.424|C16.131.831.350.424|C16.320.322.186|C16.320.850.250.424|C17.800.804.350.424|C17.800.827.250.424 C05.116.099.370|C16.131.077.350|C16.131.831.350|C16.320.322|C16.320.850.250|C17.800.804.350|C17.800.827.250 Dermal Hypoplasia, Focal|Dermal Hypoplasias, Focal|DHOF|FDH|Focal Dermal Hypoplasias|FODH|Goltz Gorlin Syndrome|Goltz-Gorlin Syndrome|Goltz's Syndrome|Goltzs Syndrome|Goltz Syndrome|Gorlin Syndrome, Goltz|Hypoplasia, Focal Dermal|Hypoplasias, Focal Dermal|Syndrome, Goltz|Syndrome, Goltz Gorlin|Syndrome, Goltz-Gorlin|Syndrome, Goltz's Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Focal Epithelial Hyperplasia MESH:D017573 DO:DOID:5362 Hyperplasia of the mucous membrane of the lips, tongue, and less commonly, the buccal mucosa, floor of the mouth, and palate, presenting soft, painless, round to oval sessile papules about 1 to 4 mm in diameter. The condition usually occurs in children and young adults and has familial predilection, lasting for several months, sometimes years, before running its course. A viral etiology is suspected, the isolated organism being usually the human papillomavirus. (Jablonski, Illustrated Dictionary of Dentistry; Belshe, Textbook of Human Virology, 2d ed, p954) MESH:D009059 C07.465.342 C07.465 Disease, Heck|Disease, Heck's|Epithelial Hyperplasia, Focal|Epithelial Hyperplasias, Focal|Focal Epithelial Hyperplasia, Oral|Focal Epithelial Hyperplasias|Heck Disease|Heck's Disease|Hecks Disease|Hyperplasia, Focal Epithelial|Hyperplasias, Focal Epithelial Mouth disease Focal Epithelial Hyperplasia of the Oral Mucosa MESH:C565008 MESH:D017573 C07.465.342/C565008 C07.465.342 Mouth disease Focal Facial Dermal Dysplasias MESH:D000090303 OMIM:227260|OMIM:614974 A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern: FFDD1 (Brauer syndrome); FFDD2 (Brauer-Setleis syndrome); FFDD3 (Setleis syndrome); and FFDD4. Mutations in TWIST2 Protein and/or CYP26C1 (see CYP26 FAMILY) are associated with FFDD3, and 4. MESH:D004476 C16.131.077.350.568|C16.131.831.350.568|C16.320.850.250.568|C17.800.804.350.568|C17.800.827.250.568 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Bitemporal Aplasia Cutis Congenita|Bitemporal Forceps Marks Syndrome|Brauer Setleis Syndrome|Brauer-Setleis Syndrome|Brauer Syndrome|Dysplasia, Facial Ectodermal|Ectodermal Dysplasia, Facial|Ectodermal Dysplasias, Facial|Facial Ectodermal Dysplasia|Facial Ectodermal Dysplasias|FFDD3|FFDD4|FFDD, Type 1|FFDD, Type 2|FFDD, Type 3|FFDD, Type 4|Focal Facial Dermal Dysplasia 1|Focal Facial Dermal Dysplasia 2|Focal Facial Dermal Dysplasia 3|FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE|Focal Facial Dermal Dysplasia 4|Focal Facial Dermal Dysplasia Type 1|Focal Facial Dermal Dysplasia Type 2|Focal Facial Dermal Dysplasia Type 4|Focal Facial Dermal Dysplasia, Type II|FOCAL FACIAL DERMAL DYSPLASIA, TYPE II, FORMERLY|Hereditary Symmetrical Aplastic Nevi of Temples|Setleis Syndrome|Syndrome, Brauer|Type 1 FFDD|Type 2 FFDD|Type 3 FFDD|Type 4 FFDD|Type 4 FFDDs Congenital abnormality|Genetic disease (inborn)|Skin disease Focal Infection MESH:D005490 An infection at a specific location that may spread to another region of the body. MESH:D007239 C01.392 C01 Focal Infections|Infection, Focal|Infections, Focal Focal Infection, Dental MESH:D005491 Secondary or systemic infections due to dissemination throughout the body of microorganisms whose primary focus of infection lies in the periodontal tissues. MESH:D005490|MESH:D014076 C01.392.433|C07.793.348 C01.392|C07.793 Dental Focal Infection|Dental Focal Infections|Focal Infections, Dental|Infection, Dental Focal|Infections, Dental Focal Mouth disease Focal Nodular Hyperplasia MESH:D020518 Solitary or multiple benign hepatic vascular tumors, usually occurring in women of 20-50 years of age. The nodule, poorly encapsulated, consists of a central stellate fibrous scar and normal liver elements such as HEPATOCYTES, small BILE DUCTS, and KUPFFER CELLS among the intervening fibrous septa. The pale colored central scar represents large blood vessels with hyperplastic fibromuscular layer and narrowing lumen. MESH:D008107 C06.552.270 C06.552 Focal Nodular Hyperplasias|Hyperplasia, Focal Nodular|Hyperplasias, Focal Nodular Digestive system disease Focal Segmental Glomerulosclerosis 2 MESH:C565831 DO:DOID:0111129|OMIM:603965 MESH:D005923 C12.050.351.968.419.570.363.640/C565831|C12.200.777.419.570.363.660/C565831|C12.950.419.570.363.640/C565831 C12.050.351.968.419.570.363.640|C12.200.777.419.570.363.660|C12.950.419.570.363.640 FSGS2|Glomerulosclerosis, Focal Segmental, 2 Urogenital disease (female)|Urogenital disease (male) Focal Segmental Glomerulosclerosis 5 MESH:C567687 DO:DOID:0111130|OMIM:613237 MESH:D005923 C12.050.351.968.419.570.363.640/C567687|C12.200.777.419.570.363.660/C567687|C12.950.419.570.363.640/C567687 C12.050.351.968.419.570.363.640|C12.200.777.419.570.363.660|C12.950.419.570.363.640 FSGS5|GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 5 Urogenital disease (female)|Urogenital disease (male) Foix Chavany Marie syndrome MESH:C537069 MESH:D003680|MESH:D004401|MESH:D005158 C06.405.117.119/C537069|C07.465.327/C537069|C09.775.174/C537069|C10.597.606.150.500.800.150.200/C537069|C10.597.622.214/C537069|C23.888.592.604.150.500.800.150.200/C537069|C23.888.592.636.214/C537069 C06.405.117.119|C07.465.327|C09.775.174|C10.597.606.150.500.800.150.200|C10.597.622.214|C23.888.592.604.150.500.800.150.200|C23.888.592.636.214 Anterior Opercular Syndrome|Bilateral Anterior Opercular Syndrome|Congenital Foix-Chavany-Marie syndrome|Facio-Labio-Pharyngo-Glosso-Laryngo-Brachial Paralysis|Facio-Pharyngo-Glossal Diplegia with Automatic-Voluntary Movement Dissociation|Opercular Syndrome, Anterior|Pseudobulbar Paralysis, Cortical Type Digestive system disease|Ear-nose-throat disease|Mouth disease|Nervous system disease|Signs and symptoms Folate Malabsorption, Hereditary MESH:C562799 DO:DOID:0111678|OMIM:229050 MESH:D005494|MESH:D008286 C06.405.469.637/C562799|C18.452.603/C562799|C18.654.521.500.133.699.308/C562799 C06.405.469.637|C18.452.603|C18.654.521.500.133.699.308 Congenital Folate Malabsorption|Folic Acid Transport Defect|Hereditary Folate Malabsorption Digestive system disease|Metabolic disease|Nutrition disorder Folic Acid Deficiency MESH:D005494 A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed) MESH:D014804 C18.654.521.500.133.699.308 C18.654.521.500.133.699 Acid Deficiencies, Folic|Acid Deficiency, Folic|Deficiencies, Folic Acid|Deficiency, Folic Acid|Folic Acid Deficiencies Nutrition disorder Follicle-stimulating hormone deficiency, isolated MESH:C537070 OMIM:229070 MESH:D009845 C12.100.500.430.508/C537070|C12.100.750.700.508/C537070|C12.200.294.430.508/C537070 C12.100.500.430.508|C12.100.750.700.508|C12.200.294.430.508 FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED|HH24|HYPOGONADOTROPIC HYPOGONADISM 24 WITH OR WITHOUT ANOSMIA|Isolated follicle-stimulating hormone (FSH) deficiency|Isolated FSH deficiency Urogenital disease (male) Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts MESH:C566360 MESH:D004814|MESH:D012873 C04.182.254/C566360|C16.320.850/C566360|C17.800.827/C566360 C04.182.254|C16.320.850|C17.800.827 Cancer|Genetic disease (inborn)|Skin disease Follicular Cyst MESH:D005497 Cyst due to the occlusion of the duct of a follicle or small gland. MESH:D003560 C04.182.300 C04.182 Cyst, Follicular|Cysts, Follicular|Follicular Cysts Cancer Follicular hamartoma alopecia cystic fibrosis MESH:C537071 MESH:D000505|MESH:D003550|MESH:D006222 C04.445/C537071|C06.689.202/C537071|C08.381.187/C537071|C16.320.190/C537071|C16.614.213/C537071|C17.800.329.937.122/C537071|C23.300.035/C537071 C04.445|C06.689.202|C08.381.187|C16.320.190|C16.614.213|C17.800.329.937.122|C23.300.035 Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis Cancer|Digestive system disease|Genetic disease (inborn)|Infant-newborn disease|Pathology (anatomical condition)|Respiratory tract disease|Skin disease Folliculitis MESH:D005499 DO:DOID:4409 Inflammation of follicles, primarily hair follicles. MESH:D006201 C17.800.329.500 C17.800.329 Folliculitides|Sycoses|Sycosis Skin disease Food Addiction MESH:D000073932 A cluster of chemical dependencies to specific foods or food in general in which there develops a physical craving for these foods. MESH:D001068 F03.400.813 F03.400 Compulsive Eating|Eating, Compulsive|Food Addictions Mental disorder Foodborne Diseases MESH:D005517 Acute illnesses, usually affecting the GASTROINTESTINAL TRACT, brought on by consuming contaminated food or beverages. Most of these diseases are infectious, caused by a variety of bacteria, viruses, or parasites that can be foodborne. Sometimes the diseases are caused by harmful toxins from the microbes or other chemicals present in the food. Especially in the latter case, the condition is often called food poisoning. MESH:D011041 C25.723.415 C25.723 Disease, Food-borne|Disease, Foodborne|Food borne Disease|Food-borne Disease|Foodborne Disease|Food borne Diseases|Food-borne Diseases|Food borne Illness|Food-borne Illness|Foodborne Illness|Food borne Illnesses|Food-borne Illnesses|Foodborne Illnesses|Food Poisoning|Food Poisonings|Illnesses, Foodborne|Illness, Food-borne|Illness, Foodborne|Poisoning, Food Food Hypersensitivity MESH:D005512 DO:DOID:3044 Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food. MESH:D006969 C20.543.480.370 C20.543.480 Allergies, Food|Allergy, Food|Food Allergies|Food Allergy|Food Hypersensitivities|Hypersensitivities, Food|Hypersensitivity, Food Immune system disease Food Intolerance MESH:D000073923 Digestive system disorder where a particular food irritates the digestive tract or cannot be properly digested (i.e., due to a lack of a digestive enzyme). It differs from FOOD HYPERSENSITIVITY which is an immune system disorder, usually due to specific proteins in food. http://my.clevelandclinic.org/health/articles/problem-foods-is-it-an-allergy-or-intolerance. MESH:D012817 C23.888.821.387 C23.888.821 Food, Sensitivity|Intolerance, Food Signs and symptoms Foot-and-Mouth Disease MESH:D005536 A highly infectious disease caused by FOOT AND MOUTH DISEASE VIRUS that affects mammals of the ARTIODACTYLA order (CATTLE; SHEEP; GOATS; and PIGS) and is characterized by high fever followed by the appearance of blisters inside the mouth and on the feet. MESH:D000820|MESH:D010850 C01.925.782.687.484|C22.380 C01.925.782.687|C22 Disease, Foot-and-Mouth|Diseases, Foot-and-Mouth|Foot and Mouth Disease|Foot-and-Mouth Diseases Animal disease|Viral disease Foot Deformities MESH:D005530 Alterations or deviations from normal shape or size which result in a disfigurement of the foot. MESH:D009140 C05.330 C05 Deformities, Foot|Deformities, Metatarsal|Deformity, Foot|Deformity, Metatarsal|Foot Deformity|Metatarsal Deformities|Metatarsal Deformity Musculoskeletal disease Foot Deformities, Acquired MESH:D005531 Distortion or disfigurement of the foot, or a part of the foot, acquired through disease or injury after birth. MESH:D005530 C05.330.488 C05.330 Acquired Foot Deformities|Acquired Foot Deformity|Deformities, Acquired Foot|Deformity, Acquired Foot|Foot Deformity, Acquired Musculoskeletal disease Foot Deformities, Congenital MESH:D005532 Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth. MESH:D005530|MESH:D038061 C05.330.495|C05.660.585.512.380|C16.131.621.585.512.500 C05.330|C05.660.585.512|C16.131.621.585.512 Congenital Foot Deformities|Congenital Foot Deformity|Deformities, Congenital Foot|Deformity, Congenital Foot|Foot Deformity, Congenital Congenital abnormality|Musculoskeletal disease Foot Dermatoses MESH:D005533 Skin diseases of the foot, general or unspecified. MESH:D005534 C17.800.321.125 C17.800.321 Dermatoses, Foot|Dermatosis, Foot|Foot Dermatosis Skin disease Foot Diseases MESH:D005534 Anatomical and functional disorders affecting the foot. MESH:D009140|MESH:D012871 C05.360|C17.800.321 C05|C17.800 Foot Disease Musculoskeletal disease|Skin disease Foot Injuries MESH:D018409 General or unspecified injuries involving the foot. MESH:D007869 C26.558.300 C26.558 Foot Injury|Injuries, Foot|Injury, Foot|Turf Toe|Turf Toes Wounds and injuries Foot Rot MESH:D005535 A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see DICHELOBACTER NODOSUS). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed) MESH:D000820|MESH:D016905 C01.150.252.400.369|C22.394 C01.150.252.400|C22 Foot Rots|Rot, Foot|Rots, Foot Animal disease|Bacterial infection or mycosis Foot Ulcer MESH:D016523 Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy. MESH:D005534|MESH:D007871 C17.800.321.250|C17.800.893.592.450 C17.800.321|C17.800.893.592 Foot Ulcers|Plantar Ulcer|Plantar Ulcers|Ulcer, Foot|Ulcer, Plantar|Ulcers, Foot|Ulcers, Plantar Skin disease Foramen Ovale, Patent MESH:D054092 DO:DOID:13620 A condition in which the FORAMEN OVALE in the ATRIAL SEPTUM fails to close shortly after birth. This results in abnormal communications between the two upper chambers of the heart. An isolated patent ovale foramen without other structural heart defects is usually of no hemodynamic significance. MESH:D006344 C14.240.400.560.375.258|C14.280.400.560.375.258|C16.131.240.400.560.375.258 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 Oval Foramen, Patent|Patent Foramen Ovale|Patent Oval Foramen Cardiovascular disease|Congenital abnormality Forearm Injuries MESH:D005543 Injuries to the part of the upper limb of the body between the wrist and elbow. MESH:D001134 C26.088.268 C26.088 Forearm Injury|Injuries, Forearm|Injury, Forearm Wounds and injuries Forebrain Defects MESH:C566067 MESH:D002658|MESH:D019465 C05.660.207/C566067|C16.131.621.207/C566067|F03.625.421/C566067 C05.660.207|C16.131.621.207|F03.625.421 Congenital abnormality|Mental disorder|Musculoskeletal disease Foreign Bodies MESH:D005547 Inanimate objects that become enclosed in the body. MESH:D014947 C26.392 C26 Bodies, Foreign|Body, Foreign|Foreign Body|Foreign Object|Foreign Objects|Gossypiboma|Gossypibomas|Object, Foreign|Objects, Foreign|Retained Surgical Instrument|Retained Surgical Instruments|Retained Surgical Item|Retained Surgical Items|Retained Surgical Needle|Retained Surgical Needles|Retained Surgical Sponge|Retained Surgical Sponges|Retained Surgical Tool|Retained Surgical Tools|Surgical Instrument, Retained|Surgical Instruments, Retained|Surgical Item, Retained|Surgical Items, Retained|Surgical Needle, Retained|Surgical Needles, Retained|Surgical Sponge, Retained|Surgical Sponges, Retained|Surgical Tool, Retained|Surgical Tools, Retained|Textiloma|Textilomas Wounds and injuries Foreign-Body Migration MESH:D005548 Migration of a foreign body from its original location to some other location in the body. MESH:D005547 C26.392.500 C26.392 Foreign Body Migration|Foreign-Body Migrations|Migration, Foreign-Body|Migrations, Foreign-Body Wounds and injuries Foreign-Body Reaction MESH:D005549 Chronic inflammation and granuloma formation around irritating foreign bodies. MESH:D005547|MESH:D007249 C23.550.470.251|C26.392.560 C23.550.470|C26.392 Foreign Body Reaction|Reaction, Foreign-Body Pathology (process)|Wounds and injuries FOR heavy chain disease protein, human MESH:C483996 MESH:D006362 C15.378.147.780.490/C483996|C15.604.515.435/C483996|C20.683.780.490/C483996 C15.378.147.780.490|C15.604.515.435|C20.683.780.490 gamma 1 heavy chain disease protein FOR, human Blood disease|Immune system disease|Lymphatic disease Formaldehyde poisoning MESH:C537268 MESH:D012130 C08.674/C537268|C20.543.480.680/C537268 C08.674|C20.543.480.680 Formaldehyde Exposure|Formaldehyde Toxicity|Formalin Intoxication|Formalin Toxicity Immune system disease|Respiratory tract disease Forney Robinson Pascoe syndrome MESH:C537269 OMIM:157800 MESH:D000015|MESH:D006312|MESH:D008944|MESH:D010026 C05.116.099.708.702/C537269|C09.218.458.341.374/C537269|C10.597.751.418.341.374/C537269|C14.280.484.461/C537269|C16.131.077/C537269|C23.888.592.763.393.341.374/C537269 C05.116.099.708.702|C09.218.458.341.374|C10.597.751.418.341.374|C14.280.484.461|C16.131.077|C23.888.592.763.393.341.374 CARDIOSPONDYLOCARPOFACIAL SYNDROME|Congenital heart disease, deafness, and skeletal malformations|CSCF|Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms FORSYTHE-WAKELING SYNDROME OMIM:613606 MESH:D002658|MESH:D003057|MESH:D006130|MESH:D008831|MESH:D009401|MESH:D013921 C05.116.099.343.250/613606|C05.660.207.620/613606|C10.500.507.400.500/613606|C10.574.500.362/613606|C12.050.351.968.419.630/613606|C12.200.777.419.630/613606|C12.950.419.630/613606|C15.378.140.855/613606|C16.131.077.250/613606|C16.131.621.207.620/613606|C16.131.666.507.400.500/613606|C16.320.240.562/613606|C16.320.400.200/613606|C18.452.284.250/613606|C23.550.393/613606|F03.625.421/613606 C05.116.099.343.250|C05.660.207.620|C10.500.507.400.500|C10.574.500.362|C12.050.351.968.419.630|C12.200.777.419.630|C12.950.419.630|C15.378.140.855|C16.131.077.250|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.240.562|C16.320.400.200|C18.452.284.250|C23.550.393|F03.625.421 FWS|MICROCEPHALY AND GROWTH RETARDATION WITH CHILDHOOD-ONSET NEPHROTIC SYNDROME AND THROMBOCYTOPENIA Blood disease|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Fountain syndrome MESH:C537270 MESH:D000015|MESH:D001848|MESH:D003638|MESH:D008607|MESH:D019465 C05.116.099/C537270|C05.660.207/C537270|C09.218.458.341.186/C537270|C10.597.606.360/C537270|C10.597.751.418.341.186/C537270|C16.131.077/C537270|C16.131.621.207/C537270|C23.888.592.604.646/C537270|C23.888.592.763.393.341.186/C537270|F03.625.539/C537270 C05.116.099|C05.660.207|C09.218.458.341.186|C10.597.606.360|C10.597.751.418.341.186|C16.131.077|C16.131.621.207|C23.888.592.604.646|C23.888.592.763.393.341.186|F03.625.539 Mental retardation-deafnes, skeletal abnormalities, coarse face with full lips|Mental Retardation, Sensorineural Deafness, Skeletal Abnormalities, And Coarse Face With Full Lips Congenital abnormality|Ear-nose-throat disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Fournier Gangrene MESH:D018934 An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease. MESH:D001424|MESH:D005832 C01.150.252.377|C12.100.500.229|C12.200.294.229 C01.150.252|C12.100.500|C12.200.294 Fournier Disease|Fournier's Disease|Fourniers Disease|Fournier's Gangrene|Fourniers Gangrene|Gangrene, Fournier|Gangrene, Fournier's Bacterial infection or mycosis|Urogenital disease (male) fourth cranial nerve palsy, familial congenital MESH:C565007 MESH:D000093922|MESH:D020432 C10.292.562.700.375/C565007|C10.292.850/C565007|C10.500.198/C565007|C11.590.436.400/C565007|C16.131.666.198/C565007 C10.292.562.700.375|C10.292.850|C10.500.198|C11.590.436.400|C16.131.666.198 Strabismus from Superior Oblique Palsy|Superior Oblique Oculomotor Palsy, Familial Congenital|Trochlear Nerve Palsy, Familial Congenital Congenital abnormality|Eye disease|Nervous system disease Foveal Hypoplasia and Anterior Segment Dysgenesis MESH:C563774 OMIM:609218 MESH:D005124 C11.250/C563774|C16.131.384/C563774 C11.250|C16.131.384 FHONDA|FOVEAL HYPOPLASIA 2|FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM|FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS|FVH2 Congenital abnormality|Eye disease Foveal Hypoplasia, Isolated MESH:C565005 MESH:D015785|MESH:D020417 C10.292.562.675.300/C565005|C11.270/C565005|C11.590.400.300/C565005|C16.320.290/C565005|C16.614.643/C565005 C10.292.562.675.300|C11.270|C11.590.400.300|C16.320.290|C16.614.643 Eye disease|Genetic disease (inborn)|Infant-newborn disease|Nervous system disease Foveal Hypoplasia with Anterior Segment Anomalies MESH:C565006 MESH:D015785 C11.270/C565006|C16.320.290/C565006 C11.270|C16.320.290 Eye disease|Genetic disease (inborn) Fowler Christmas Chapple syndrome MESH:C537271 MESH:D011085|MESH:D014555 C04.182.612.765/C537271|C12.050.351.500.056.630.580.765/C537271|C12.050.351.968.934/C537271|C12.100.250.056.630.580.765/C537271|C12.200.777.934/C537271|C12.950.934/C537271|C19.391.630.580.765/C537271 C04.182.612.765|C12.050.351.500.056.630.580.765|C12.050.351.968.934|C12.100.250.056.630.580.765|C12.200.777.934|C12.950.934|C19.391.630.580.765 Voiding dysfunction, and polycystic ovaries Cancer|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Fowlpox MESH:D005586 A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts. MESH:D001715|MESH:D011213 C01.925.256.743.366|C22.131.321 C01.925.256.743|C22.131 Birdpox|Bird Pox|Diphtheria, Fowl|Diphtherias, Fowl|Epithelioma Contagiosum|Fowl Diphtheria|Fowl Diphtherias|Fowl Pox|Pox, Bird|Pox, Fowl|Variola Avium Animal disease|Viral disease Fox-Fordyce Disease MESH:D005588 DO:DOID:1381 Chronic pruritic disease, usually in women, characterized by small follicular papular eruptions in APOCRINE GLANDS areas. It is caused by obstruction and rupture of intraepidermal apocrine ducts. MESH:D008883 C17.800.946.492.285 C17.800.946.492 Apocrine Miliaria|Disease, Fox-Fordyce|Fox Fordyce Disease|Fox Fordyce Syndrome|Fox-Fordyce Syndrome|Miliaria, Apocrine|Syndrome, Fox-Fordyce Skin disease Fracture Dislocation MESH:D000072039 Fracture of a bone near an articulation with concomitant dislocation of that joint. MESH:D004204|MESH:D050723 C05.550.518.336|C26.289.336|C26.404.026 C05.550.518|C26.289|C26.404 Dislocation Fracture|Dislocation, Fracture|Dislocation Fractures|Dislocations, Fracture|Fracture, Dislocation|Fracture Dislocations|Fractures, Dislocation Musculoskeletal disease|Wounds and injuries Fractures, Avulsion MESH:D000071562 Tearing away of the CORTICAL BONE fragment at the location of a strong ligament or tendon attachment. The bone fragment detachment site often occurs near a soft site (e.g., GROWTH PLATE) at the base where LIGAMENTS; TENDONS; or JOINT CAPSULES attach. In younger patients it is most often caused by a sudden forceful pull on a tendon in the opposite direction of the bone movement. In the elderly it is associated with osteoporotic INSUFFICIENCY FRACTURES. MESH:D050723 C26.404.038 C26.404 Avulsion Fracture|Avulsion Fractures|Fracture, Avulsion|Fracture, Sprain|Fractures, Sprain|Sprain Fracture|Sprain Fractures Wounds and injuries Fractures, Bone MESH:D050723 Breaks in bones. MESH:D014947 C26.404 C26 Bone, Broken|Bone Fracture|Bone Fractures|Bones, Broken|Broken Bone|Broken Bones|Fracture, Bone|Fracture, Spiral|Fractures, Spiral|Fractures, Torsion|Fracture, Torsion|Spiral Fracture|Spiral Fractures|Torsion Fracture|Torsion Fractures Wounds and injuries Fractures, Cartilage MESH:D050724 Breaks in CARTILAGE. MESH:D014947 C26.411 C26 Cartilage Fracture|Cartilage Fractures|Fracture, Cartilage Wounds and injuries Fractures, Closed MESH:D005596 Fractures in which the break in bone is not accompanied by an external wound. MESH:D050723 C26.404.124 C26.404 Closed Fracture|Closed Fractures|Fracture, Closed|Fracture, Occult|Fractures, Occult|Occult Fracture|Occult Fractures Wounds and injuries Fractures, Comminuted MESH:D018460 A fracture in which the bone is splintered or crushed into a number of pieces. MESH:D050723 C26.404.186 C26.404 Comminuted Fracture|Comminuted Fractures|Fracture, Comminuted Wounds and injuries Fractures, Compression MESH:D050815 Crumbling or smashing of cancellous BONE by forces acting parallel to the long axis of bone. It is applied particularly to vertebral body fractures (SPINAL FRACTURES). (Blauvelt and Nelson, A Manual of Orthopedic Terminology, 1994, p4) MESH:D050723 C26.404.195 C26.404 Compression Fracture|Compression Fractures|Fracture, Compression Wounds and injuries Fractures, Malunited MESH:D017759 Union of the fragments of a fractured bone in a faulty or abnormal position. If two bones parallel to one another unite by osseous tissue, the result is a crossunion. (From Manual of Orthopaedic Terminology, 4th ed) MESH:D050723 C26.404.249 C26.404 Crossunited Fracture|Crossunited Fractures|Fracture, Abnormal Union|Fracture, Crossunited|Fracture Malunion|Fracture Malunions|Fracture, Malunited|Fractures, Abnormal Union|Fractures, Crossunited|Malunion, Fracture|Malunions, Fracture|Malunited Fracture|Malunited Fractures Wounds and injuries Fractures, Multiple MESH:D000069076 Injuries involving the breaking of either several bones or one bone in two or more places. MESH:D009104|MESH:D050723 C26.404.280|C26.640.500 C26.404|C26.640 Fracture, Multiple|Multiple Fracture|Multiple Fractures Wounds and injuries Fractures, Open MESH:D005597 Fractures in which there is an external wound communicating with the break of the bone. MESH:D050723 C26.404.311 C26.404 Compound Fracture|Compound Fractures|Fracture, Compound|Fracture, Open|Fractures, Compound|Open Fracture|Open Fractures Wounds and injuries Fractures, Spontaneous MESH:D005598 Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed) MESH:D050723 C26.404.374 C26.404 Fracture, Pathologic|Fracture, Pathological|Fractures, Pathologic|Fractures, Pathological|Fracture, Spontaneous|Pathological Fracture|Pathological Fractures|Pathologic Fracture|Pathologic Fractures|Spontaneous Fracture|Spontaneous Fractures Wounds and injuries Fractures, Stress MESH:D015775 Fractures due to the strain caused by repetitive exercise. They are thought to arise from a combination of MUSCLE FATIGUE and bone failure, and occur in situations where BONE REMODELING predominates over repair. The most common sites of stress fractures are the METATARSUS; FIBULA; TIBIA; and FEMORAL NECK. MESH:D050723 C26.404.437 C26.404 Bone Stress Reaction|Bone Stress Reactions|Fatigue Fracture|Fatigue Fractures|Fracture, Fatigue|Fracture, Insufficiency|Fracture, March|Fracture, Micro|Fractures, Fatigue|Fractures, March|Fractures, Micro|Fracture, Stress|Insufficiency Fracture|Insufficiency Fractures|March Fracture|March Fractures|Microfracture|Micro Fracture|Microfractures|Micro Fractures|Stress Fracture|Stress Fractures|Stress Reaction, Bone Wounds and injuries Fractures, Ununited MESH:D005599 A fracture in which union fails to occur, the ends of the bone becoming rounded and eburnated, and a false joint occurs. (Stedman, 25th ed) MESH:D050723 C26.404.468 C26.404 Fracture, Ununited|Ununited Fracture|Ununited Fractures Wounds and injuries Fragile Site 16p12 MESH:C565001 MESH:D001523|MESH:D002658|MESH:D002872|MESH:D006330|MESH:D019465|MESH:D025063 C05.660.207/C565001|C14.240.400/C565001|C14.280.400/C565001|C16.131.240.400/C565001|C16.131.260/C565001|C16.131.621.207/C565001|C16.320.180/C565001|C23.550.210.050.500.500/C565001|F03.625.421/C565001|F03/C565001 C05.660.207|C14.240.400|C14.280.400|C16.131.240.400|C16.131.260|C16.131.621.207|C16.320.180|C23.550.210.050.500.500|F03|F03.625.421 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Pathology (process) Fragile X Syndrome MESH:D005600 DO:DOID:14261|OMIM:300624|OMIM:309548 A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) MESH:D025064|MESH:D038901 C10.597.606.360.455.500|C16.131.260.830.300|C16.320.180.830.300|C16.320.322.500.500|C16.320.400.525.500 C10.597.606.360.455|C16.131.260.830|C16.320.180.830|C16.320.322.500|C16.320.400.525 Fragile X-F Mental Retardation Syndrome|Fragile X Mental Retardation Syndrome|Fragile X Syndromes|FRAXA Syndrome|FRAXA Syndromes|FRAXE MENTAL RETARDATION SYNDROME|FRAXE Syndrome|FRAXE Syndromes|Fra(X) Syndrome|FXS|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109|Marker X Syndrome|Marker X Syndromes|Martin Bell Syndrome|Martin-Bell Syndrome|Mar (X) Syndrome|MENTAL RETARDATION, X-LINKED 109|Mental Retardation, X-Linked, Associated With Fragile Site Fraxe|Mental Retardation, X-Linked, Associated With Marxq28|MRX109|Syndrome, Fragile X|Syndrome, FRAXA|Syndrome, FRAXE|Syndrome, Marker X|Syndrome, Martin-Bell|Syndromes, Fragile X|Syndromes, FRAXA|Syndromes, FRAXE|Syndromes, Marker X|XLID109|X Linked Mental Retardation and Macroorchidism|X-Linked Mental Retardation and Macroorchidism Congenital abnormality|Genetic disease (inborn)|Nervous system disease Fragile X Tremor Ataxia Syndrome MESH:C564105 OMIM:300623 MESH:D001259|MESH:D005600|MESH:D014202 C10.597.350.090/C564105|C10.597.350.850/C564105|C10.597.606.360.455.500/C564105|C16.131.260.830.300/C564105|C16.320.180.830.300/C564105|C16.320.322.500.500/C564105|C16.320.400.525.500/C564105|C23.888.592.350.090/C564105|C23.888.592.350.850/C564105 C10.597.350.090|C10.597.350.850|C10.597.606.360.455.500|C16.131.260.830.300|C16.320.180.830.300|C16.320.322.500.500|C16.320.400.525.500|C23.888.592.350.090|C23.888.592.350.850 Fragile X-Associated Tremor Ataxia Syndrome|FRAGILE X TREMOR/ATAXIA SYNDROME|Fxtas|FXTAS Fragile X Tremor Ataxia Syndrome Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Frailty MESH:D000073496 A state of increased vulnerability to stressors, following declines in function and reserves across multiple physiologic systems, characterized by MUSCLE WEAKNESS; FATIGUE; slowed motor performance; low physical activity; and unintentional weight loss. MESH:D010335 C23.550.359 C23.550 Debilities|Debility|Frailness|Frailties|Frailty Syndrome Pathology (process) Franceschini Vardeu Guala syndrome MESH:C537272 MESH:D001506 C16.131.077.133/C537272|C16.131.260.080/C537272|C16.320.180.080/C537272 C16.131.077.133|C16.131.260.080|C16.320.180.080 Congenital abnormality|Genetic disease (inborn) Fraser Jequier Chen syndrome MESH:C535481 MESH:D000015|MESH:D010009|MESH:D012857 C05.116.099.708/C535481|C16.131.077/C535481|C16.131.810/C535481|C16.320.728/C535481 C05.116.099.708|C16.131.077|C16.131.810|C16.320.728 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Fraser-Like Syndrome MESH:C565562 MESH:D010048|MESH:D015619|MESH:D019465 C04.182.612/C565562|C05.660.207/C565562|C08.695/C565562|C12.050.351.500.056.630.580/C565562|C12.100.250.056.630.580/C565562|C16.131.621.207/C565562|C16.131.740/C565562|C19.391.630.580/C565562 C04.182.612|C05.660.207|C08.695|C12.050.351.500.056.630.580|C12.100.250.056.630.580|C16.131.621.207|C16.131.740|C19.391.630.580 Fused Eyelids, Airway Anomalies, Ovarian Cysts, and Digital Anomalies Cancer|Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Respiratory tract disease|Urogenital disease (female) Fraser Syndrome MESH:D058497 DO:DOID:0090001|OMIM:219000 Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome. MESH:D000015|MESH:D005124|MESH:D013576|MESH:D014564 C05.116.099.370.894.819.428|C05.660.585.800.428|C05.660.906.819.428|C11.250.390|C12.050.351.875.397|C12.200.706.410|C12.800.410|C16.131.077.371|C16.131.384.442|C16.131.621.585.800.428|C16.131.621.906.819.428|C16.131.939.410 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C11.250|C12.050.351.875|C12.200.706|C12.800|C16.131.077|C16.131.384|C16.131.621.585.800|C16.131.621.906.819|C16.131.939 Cryptophthalmos Syndactyly Syndrome|Cryptophthalmos-Syndactyly Syndrome|Cryptophthalmos-Syndactyly Syndromes|Cryptophthalmos with Other Malformations|FRASER SYNDROME|FRASER SYNDROME 1|FRASRS1|Syndrome, Fraser Congenital abnormality|Eye disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Frasier Syndrome MESH:D052159 DO:DOID:0050438|OMIM:136680 A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11. MESH:D007676|MESH:D030342|MESH:D058490 C12.050.351.875.253.096.624|C12.050.351.968.419.780.750.500.500|C12.200.706.316.096.624|C12.200.777.419.780.750.500.500|C12.800.316.096.624|C12.950.419.780.750.500.500|C16.131.939.316.096.624|C16.320.306|C19.391.119.096.624|C23.550.291.500.906.500.500 C12.050.351.875.253.096|C12.050.351.968.419.780.750.500|C12.200.706.316.096|C12.200.777.419.780.750.500|C12.800.316.096|C12.950.419.780.750.500|C16.131.939.316.096|C16.320|C19.391.119.096|C23.550.291.500.906.500 Syndrome, Frasier Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Freeman-Sheldon syndrome MESH:C535483 DO:DOID:0111604|OMIM:193700 MESH:D003394 C05.116.099.370.231/C535483|C05.660.207.231/C535483|C16.131.621.207.231/C535483 C05.116.099.370.231|C05.660.207.231|C16.131.621.207.231 Arthrogryposis, Distal, Type 2A|Craniocarpotarsal Dysplasia|Craniocarpotarsal dystrophy|DA2A|Distal Arthrogryposis, Type 2A|FREEMAN-SHELDON SYNDROME|FSS|Whistling Face Syndrome|Whistling Face-Windmill Vane Hand Syndrome Congenital abnormality|Musculoskeletal disease Freemartinism MESH:D005611 DO:DOID:4671 A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric 'female'(CHIMERISM). MESH:D002418|MESH:D058533 C12.050.351.875.253.795.124|C12.200.706.316.795.124|C12.800.316.795.124|C16.131.939.316.795.124|C19.391.119.795.124|C22.196.339 C12.050.351.875.253.795|C12.200.706.316.795|C12.800.316.795|C16.131.939.316.795|C19.391.119.795|C22.196 Animal disease|Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Free sialic acid storage disease MESH:C538523 MESH:D029461 C10.228.140.163.100.435.810/C538523|C16.320.565.189.435.810/C538523|C16.320.565.595.554.810/C538523|C18.452.132.100.435.810/C538523|C18.452.648.189.435.810/C538523|C18.452.648.595.554.810/C538523 C10.228.140.163.100.435.810|C16.320.565.189.435.810|C16.320.565.595.554.810|C18.452.132.100.435.810|C18.452.648.189.435.810|C18.452.648.595.554.810 N-acetylneuraminic acid (NANA) storage disease (NSD) Genetic disease (inborn)|Metabolic disease|Nervous system disease Freiberg's disease MESH:C535636 MESH:D010007 C05.116.791/C535636|C05.182.520/C535636|C17.300.182.520/C535636 C05.116.791|C05.182.520|C17.300.182.520 Freiberg-Kohler syndrome|Freiberg's infraction|Kohler's second disease|Second metatarsal osteochondrosis Connective tissue disease|Musculoskeletal disease Freire-Maia odontotrichomelic syndrome MESH:C535637 MESH:D004476|MESH:D017880 C05.660.585/C535637|C16.131.077.350/C535637|C16.131.621.585/C535637|C16.131.831.350/C535637|C16.320.850.250/C535637|C17.800.804.350/C535637|C17.800.827.250/C535637 C05.660.585|C16.131.077.350|C16.131.621.585|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Odontotrichomelic hypohidrotic dysplasia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Frenkel Russe syndrome MESH:C535638 MESH:D000361|MESH:D012166|MESH:D013684 C11.290.807/C535638|C11.768.710/C535638|C14.907.823/C535638|C15.378.147.142/C535638|C15.604.515.032/C535638|C20.673.088/C535638|C23.550.414.756.775/C535638 C11.290.807|C11.768.710|C14.907.823|C15.378.147.142|C15.604.515.032|C20.673.088|C23.550.414.756.775 Retinal Telangiectasia and Hypogammaglobulinemia|Retinal telangiectasia associated with hypogammaglobulinemia Blood disease|Cardiovascular disease|Eye disease|Immune system disease|Lymphatic disease|Pathology (process) Frias syndrome MESH:C535639 MESH:D005532|MESH:D006130 C05.330.495/C535639|C05.660.585.512.380/C535639|C16.131.621.585.512.500/C535639|C23.550.393/C535639 C05.330.495|C05.660.585.512.380|C16.131.621.585.512.500|C23.550.393 Growth Deficiency, Facial Anomalies, And Brachydactyly Congenital abnormality|Musculoskeletal disease|Pathology (process) Fried Goldberg Mundel syndrome MESH:C535640 MESH:D000015|MESH:D005532 C05.330.495/C535640|C05.660.585.512.380/C535640|C16.131.077/C535640|C16.131.621.585.512.500/C535640 C05.330.495|C05.660.585.512.380|C16.131.077|C16.131.621.585.512.500 Congenital abnormality|Musculoskeletal disease Friedreich Ataxia MESH:D005621 DO:DOID:12705 An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75) MESH:D013132|MESH:D028361 C10.228.140.252.700.150|C10.228.854.787.200|C10.574.500.825.200|C16.320.400.780.200|C18.452.660.300 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780|C18.452.660 Ataxia, Friedreich|Ataxia, Friedreich Familial|Ataxia, Friedreich Hereditary|Ataxia, Friedreich's|Ataxia, Friedreich's Familial|Ataxia, Friedreich's Hereditary|Ataxia, Friedreich Spinocerebellar|Ataxias, Friedreich|Ataxias, Friedreich's Hereditary|Disease, Friedreich|Disease, Friedreich's|Familial Ataxia, Friedreich|Familial Ataxia, Friedreich's|Friedreich Ataxias|Friedreich Disease|Friedreich Familial Ataxia|Friedreich Hereditary Ataxia|Friedreich Hereditary Spinal Ataxia|Friedreich's Ataxia|Friedreich's Disease|Friedreich's Familial Ataxia|Friedreichs Familial Ataxia|Friedreich's Hereditary Ataxia|Friedreichs Hereditary Ataxia|Friedreich's Hereditary Ataxias|Friedreich's Hereditary Spinal Ataxia|Friedreich Spinocerebellar Ataxia|Hereditary Ataxia, Friedreich|Hereditary Ataxia, Friedreich's|Hereditary Ataxias, Friedreich's|Hereditary Spinal Ataxia, Friedreich|Hereditary Spinal Ataxia, Friedreich's|Hereditary Spinal Scleroses|Hereditary Spinal Sclerosis|Scleroses, Hereditary Spinal|Sclerosis, Hereditary Spinal|Spinal Scleroses, Hereditary|Spinal Sclerosis, Hereditary|Spinocerebellar Ataxia, Friedreich Genetic disease (inborn)|Metabolic disease|Nervous system disease Friedreich Ataxia 1 MESH:C565561 DO:DOID:0111218|OMIM:229300 MESH:D005621 C10.228.140.252.700.150/C565561|C10.228.854.787.200/C565561|C10.574.500.825.200/C565561|C16.320.400.780.200/C565561|C18.452.660.300/C565561 C10.228.140.252.700.150|C10.228.854.787.200|C10.574.500.825.200|C16.320.400.780.200|C18.452.660.300 FA FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED|FARR, INCLUDED|FRDA|Frda1|FRIEDREICH ATAXIA|FRIEDREICH ATAXIA 1 Genetic disease (inborn)|Metabolic disease|Nervous system disease Friedreich Ataxia 2 MESH:C566594 DO:DOID:0111219|OMIM:601992 MESH:D005621 C10.228.140.252.700.150/C566594|C10.228.854.787.200/C566594|C10.574.500.825.200/C566594|C16.320.400.780.200/C566594|C18.452.660.300/C566594 C10.228.140.252.700.150|C10.228.854.787.200|C10.574.500.825.200|C16.320.400.780.200|C18.452.660.300 FRDA2 Genetic disease (inborn)|Metabolic disease|Nervous system disease Friedreich ataxia congenital glaucoma MESH:C538061 MESH:D005621|MESH:D005901 C10.228.140.252.700.150/C538061|C10.228.854.787.200/C538061|C10.574.500.825.200/C538061|C11.525.381/C538061|C16.320.400.780.200/C538061|C18.452.660.300/C538061 C10.228.140.252.700.150|C10.228.854.787.200|C10.574.500.825.200|C11.525.381|C16.320.400.780.200|C18.452.660.300 Congenital glaucoma and Friedreich ataxia|Friedreich Ataxia and Congenital Glaucoma Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness MESH:C564999 MESH:D005621|MESH:D006319|MESH:D015418 C09.218.458.341.887/C564999|C10.228.140.252.700.150/C564999|C10.228.854.787.200/C564999|C10.292.700.225.500/C564999|C10.574.500.662/C564999|C10.574.500.825.200/C564999|C10.597.751.418.341.887/C564999|C11.270.564/C564999|C11.640.451.451/C564999|C16.320.290.564/C564999|C16.320.400.630/C564999|C16.320.400.780.200/C564999|C18.452.660.300/C564999|C23.888.592.763.393.341.887/C564999 C09.218.458.341.887|C10.228.140.252.700.150|C10.228.854.787.200|C10.292.700.225.500|C10.574.500.662|C10.574.500.825.200|C10.597.751.418.341.887|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630|C16.320.400.780.200|C18.452.660.300|C23.888.592.763.393.341.887 Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Friedreich Ataxia with Retained Reflexes MESH:C564657 MESH:D005621 C10.228.140.252.700.150/C564657|C10.228.854.787.200/C564657|C10.574.500.825.200/C564657|C16.320.400.780.200/C564657|C18.452.660.300/C564657 C10.228.140.252.700.150|C10.228.854.787.200|C10.574.500.825.200|C16.320.400.780.200|C18.452.660.300 Genetic disease (inborn)|Metabolic disease|Nervous system disease Frints De Smet Fabry Fryns syndrome MESH:C538062 MESH:D005532|MESH:D006228|MESH:D013576 C05.116.099.370.894.819/C538062|C05.330.495/C538062|C05.390.408/C538062|C05.660.585.512.380/C538062|C05.660.585.800/C538062|C05.660.585.988.425/C538062|C05.660.906.819/C538062|C16.131.621.585.512.500/C538062|C16.131.621.585.800/C538062|C16.131.621.585.988.500/C538062|C16.131.621.906.819/C538062 C05.116.099.370.894.819|C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.800|C05.660.585.988.425|C05.660.906.819|C16.131.621.585.512.500|C16.131.621.585.800|C16.131.621.585.988.500|C16.131.621.906.819 Symbrachydactyly of the hand and foot Congenital abnormality|Musculoskeletal disease Frontal Sinusitis MESH:D015522 DO:DOID:10791 Inflammation of the NASAL MUCOSA in the FRONTAL SINUS. In many cases, it is caused by an infection of the bacteria STREPTOCOCCUS PNEUMONIAE or HAEMOPHILUS INFLUENZAE. MESH:D012852 C01.748.749.387|C08.460.692.752.387|C08.730.749.387|C09.603.692.752.387 C01.748.749|C08.460.692.752|C08.730.749|C09.603.692.752 Frontal Sinusitides|Sinusitides, Frontal|Sinusitis, Frontal Ear-nose-throat disease|Respiratory tract disease Fronto-facio-nasal dysplasia MESH:C538063 MESH:D004413|MESH:D004677|MESH:D005124|MESH:D005146|MESH:D019465 C05.116.099.370/C538063|C05.660.207/C538063|C10.500.680.488/C538063|C11.250/C538063|C16.131.384/C538063|C16.131.621.207/C538063|C16.131.666.680.488/C538063|C23.300.505/C538063|C23.300.707.186/C538063 C05.116.099.370|C05.660.207|C10.500.680.488|C11.250|C16.131.384|C16.131.621.207|C16.131.666.680.488|C23.300.505|C23.300.707.186 Fronto-facio-nasal dysostosis|Frontofacionasal Dysostosis|Frontofacionasal Dysplasia Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Frontometaphyseal dysplasia MESH:C538064 DO:DOID:0111785|OMIM:305620|OMIM:617137 MESH:D010009 C05.116.099.708/C538064|C16.320.728/C538064 C05.116.099.708|C16.320.728 FMD|FMD1|FMD2|FRONTOMETAPHYSEAL DYSPLASIA 1|FRONTOMETAPHYSEAL DYSPLASIA 2 Genetic disease (inborn)|Musculoskeletal disease Frontonasal dysplasia MESH:C538065 DO:DOID:0081044|OMIM:136760|OMIM:613451|OMIM:613456 MESH:D019465 C05.660.207/C538065|C16.131.621.207/C538065 C05.660.207|C16.131.621.207 FND|FND1|FND2|FND3|FNM|FRONTONASAL DYSPLASIA|FRONTONASAL DYSPLASIA 1|FRONTONASAL DYSPLASIA 2|FRONTONASAL DYSPLASIA 3|Frontonasal Malformation|Frontorhiny|Median facial cleft syndrome Congenital abnormality|Musculoskeletal disease Frontoocular Syndrome MESH:C565340 MESH:D005124|MESH:D006330|MESH:D019465 C05.660.207/C565340|C11.250/C565340|C14.240.400/C565340|C14.280.400/C565340|C16.131.240.400/C565340|C16.131.384/C565340|C16.131.621.207/C565340 C05.660.207|C11.250|C14.240.400|C14.280.400|C16.131.240.400|C16.131.384|C16.131.621.207 Cardiovascular disease|Congenital abnormality|Eye disease|Musculoskeletal disease Frontootopalatodigital Osteodysplasia MESH:C567578 MESH:D006228|MESH:D010009|MESH:D019465 C05.116.099.708/C567578|C05.390.408/C567578|C05.660.207/C567578|C05.660.585.988.425/C567578|C16.131.621.207/C567578|C16.131.621.585.988.500/C567578|C16.320.728/C567578 C05.116.099.708|C05.390.408|C05.660.207|C05.660.585.988.425|C16.131.621.207|C16.131.621.585.988.500|C16.320.728 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Frontotemporal Dementia MESH:D057180 OMIM:600274 The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight. MESH:D057174 C10.228.140.380.266.299|C10.574.950.300.299|C18.452.845.800.300.299|F03.615.400.380.299 C10.228.140.380.266|C10.574.950.300|C18.452.845.800.300|F03.615.400.380 Complex, Disinhibition-Dementia-Parkinsonism-Amyotrophy|Complex, Disinhibition-Dementia-Parkinsonism-Amytrophy|Complices, Disinhibition-Dementia-Parkinsonism-Amyotrophy|Complices, Disinhibition-Dementia-Parkinsonism-Amytrophy|DDPAC|Dementia, Frontotemporal|Dementia, Frontotemporal Lobe|Dementia, Frontotemporal Lobe (FLDEM)|Dementia, Frontotemporal, with Parkinsonism|Dementia, GRN-Related Frontotemporal|Dementia, Hereditary Dysphasic Disinhibition|Dementia, Semantic|Dementias, Frontotemporal|Dementias, Frontotemporal Lobe|Dementias, Frontotemporal Lobe (FLDEM)|Dementias, GRN-Related Frontotemporal|Dementias, Semantic|Dementias, Ubiquitin-Positive Frontotemporal|Dementia, Ubiquitin-Positive Frontotemporal|Disease, Familial Pick's|Diseases, Familial Pick's|Diseases, Wilhelmsen-Lynch|Disease, Wilhelmsen-Lynch|Disinhibition Dementia Parkinsonism Amyotrophy Complex|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complices|Disinhibition Dementia Parkinsonism Amytrophy Complex|Disinhibition-Dementia-Parkinsonism-Amytrophy Complex|Disinhibition-Dementia-Parkinsonism-Amytrophy Complices|Familial Pick Disease|Familial Pick's Disease|Familial Picks Disease|Familial Pick's Diseases|FLDEM|Frontotemporal Dementia, GRN-Related|Frontotemporal Dementias|Frontotemporal Dementias, GRN-Related|Frontotemporal Dementias, Ubiquitin-Positive|Frontotemporal Dementia, Ubiquitin Positive|Frontotemporal Dementia, Ubiquitin-Positive|Frontotemporal Dementia with Parkinsonism|Frontotemporal Dementia with Parkinsonism 17|Frontotemporal Dementia with Parkinsonism-17|FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS|Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions|Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions|Frontotemporal Lobe Dementia|Frontotemporal Lobe Dementia (FLDEM)|Frontotemporal Lobe Dementias|Frontotemporal Lobe Dementias (FLDEM)|FTD|FTD-GRN|FTDP-17|FTDP17|FTD-PGRN|FTLD-17 GRN|FTLD-TDP|FTLD WITH TAU INCLUSIONS|FTLD with TDP 43 Pathology|FTLD with TDP-43 Pathology|GRN Related Frontotemporal Dementia|GRN-Related Frontotemporal Dementia|GRN-Related Frontotemporal Dementias|HDDD1|HDDD2|Hereditary Dysphasic Disinhibition Dementia|Lobe Dementia, Frontotemporal|Lobe Dementias, Frontotemporal|MSTD|Multiple System Tauopathy with Presenile Dementia|PALLIDOPONTONIGRAL DEGENERATION;PPND PICK COMPLEX, INCLUDED|Pick's Disease, Familial|Pick's Diseases, Familial|Semantic Dementia|Semantic Dementias|Ubiquitin-Positive Frontotemporal Dementia|Ubiquitin-Positive Frontotemporal Dementias|Wilhelmsen Lynch Disease|Wilhelmsen-Lynch Disease|Wilhelmsen-Lynch Diseases|WLD Mental disorder|Metabolic disease|Nervous system disease FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 OMIM:105550 DO:DOID:0060213 MESH:D000690|MESH:D057180 C10.228.140.380.266.299/105550|C10.228.854.139/105550|C10.574.562.250/105550|C10.574.950.050/105550|C10.574.950.300.299/105550|C10.668.467.250/105550|C18.452.845.800.050/105550|C18.452.845.800.300.299/105550|F03.615.400.380.299/105550 C10.228.140.380.266.299|C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.574.950.300.299|C10.668.467.250|C18.452.845.800.050|C18.452.845.800.300.299|F03.615.400.380.299 ALSFTD|AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA|FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS|FRONTOTEMPORAL DEMENTIA AND/OR MOTOR NEURON DISEASE|FTDALS|FTDALS1|FTDMND Mental disorder|Metabolic disease|Nervous system disease FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 OMIM:615911 DO:DOID:0060214 MESH:D000690|MESH:D057180 C10.228.140.380.266.299/615911|C10.228.854.139/615911|C10.574.562.250/615911|C10.574.950.050/615911|C10.574.950.300.299/615911|C10.668.467.250/615911|C18.452.845.800.050/615911|C18.452.845.800.300.299/615911|F03.615.400.380.299/615911 C10.228.140.380.266.299|C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.574.950.300.299|C10.668.467.250|C18.452.845.800.050|C18.452.845.800.300.299|F03.615.400.380.299 FTDALS2 Mental disorder|Metabolic disease|Nervous system disease FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 OMIM:616437 DO:DOID:0110068 MESH:D000690|MESH:D057180 C10.228.140.380.266.299/616437|C10.228.854.139/616437|C10.574.562.250/616437|C10.574.950.050/616437|C10.574.950.300.299/616437|C10.668.467.250/616437|C18.452.845.800.050/616437|C18.452.845.800.300.299/616437|F03.615.400.380.299/616437 C10.228.140.380.266.299|C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.574.950.300.299|C10.668.467.250|C18.452.845.800.050|C18.452.845.800.300.299|F03.615.400.380.299 FTDALS3 Mental disorder|Metabolic disease|Nervous system disease FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 OMIM:616439 DO:DOID:0110069 MESH:D000690|MESH:D057180 C10.228.140.380.266.299/616439|C10.228.854.139/616439|C10.574.562.250/616439|C10.574.950.050/616439|C10.574.950.300.299/616439|C10.668.467.250/616439|C18.452.845.800.050/616439|C18.452.845.800.300.299/616439|F03.615.400.380.299/616439 C10.228.140.380.266.299|C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.574.950.300.299|C10.668.467.250|C18.452.845.800.050|C18.452.845.800.300.299|F03.615.400.380.299 FTDALS4 Mental disorder|Metabolic disease|Nervous system disease FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 OMIM:613954 DO:DOID:0060205 MESH:D000690|MESH:D057180 C10.228.140.380.266.299/613954|C10.228.854.139/613954|C10.574.562.250/613954|C10.574.950.050/613954|C10.574.950.300.299/613954|C10.668.467.250/613954|C18.452.845.800.050/613954|C18.452.845.800.300.299/613954|F03.615.400.380.299/613954 C10.228.140.380.266.299|C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.574.950.300.299|C10.668.467.250|C18.452.845.800.050|C18.452.845.800.300.299|F03.615.400.380.299 ALS14, FORMERLY|AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, FORMERLY|FTDALS6 Mental disorder|Metabolic disease|Nervous system disease FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 OMIM:600795 DO:DOID:0111227 MESH:C564300|MESH:C579991 C10.228.140.380.266.299/C579991/600795|C10.228.854.139/C564300/600795|C10.574.562.250/C564300/600795|C10.574.950.050/C564300/600795|C10.574.950.300.299/C579991/600795|C10.668.467.250/C564300/600795|C18.452.845.800.050/C564300/600795|C18.452.845.800.300.299/C579991/600795|F03.615.400.380.299/C579991/600795 C10.228.140.380.266.299/C579991|C10.228.854.139/C564300|C10.574.562.250/C564300|C10.574.950.050/C564300|C10.574.950.300.299/C579991|C10.668.467.250/C564300|C18.452.845.800.050/C564300|C18.452.845.800.300.299/C579991|F03.615.400.380.299/C579991 ALS17, FORMERLY|AMYOTROPHIC LATERAL SCLEROSIS 17, FORMERLY|AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED|FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED|FTD3|FTDALS7 Mental disorder|Metabolic disease|Nervous system disease Frontotemporal Dementia With Motor Neuron Disease MESH:C566288 MESH:D000690|MESH:D057180 C10.228.140.380.266.299/C566288|C10.228.854.139/C566288|C10.574.562.250/C566288|C10.574.950.050/C566288|C10.574.950.300.299/C566288|C10.668.467.250/C566288|C18.452.845.800.050/C566288|C18.452.845.800.300.299/C566288|F03.615.400.380.299/C566288 C10.228.140.380.266.299|C10.228.854.139|C10.574.562.250|C10.574.950.050|C10.574.950.300.299|C10.668.467.250|C18.452.845.800.050|C18.452.845.800.300.299|F03.615.400.380.299 ALSFTD|Amyotrophic Lateral Sclerosis And-Or Frontotemporal Dementia|Frontotemporal Dementia-Amyotrophic Lateral Sclerosis|FTDALS|FTDMND Mental disorder|Metabolic disease|Nervous system disease Frontotemporal Lobar Degeneration MESH:D057174 Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA. MESH:D003704|MESH:D057177 C10.228.140.380.266|C10.574.950.300|C18.452.845.800.300|F03.615.400.380 C10.228.140.380|C10.574.950|C18.452.845.800|F03.615.400 Degeneration, Frontotemporal Lobar|Degenerations, Frontotemporal Lobar|Frontotemporal Lobar Degenerations|FTLD|FTLDs|Lobar Degeneration, Frontotemporal|Lobar Degenerations, Frontotemporal Mental disorder|Metabolic disease|Nervous system disease FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED OMIM:607485 DO:DOID:0060672 MESH:D057174 C10.228.140.380.266/607485|C10.574.950.300/607485|C18.452.845.800.300/607485|F03.615.400.380/607485 C10.228.140.380.266|C10.574.950.300|C18.452.845.800.300|F03.615.400.380 DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION;HDDD APHASIA, PRIMARY PROGRESSIVE, INCLUDED|FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE|FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED|FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS|FTDU|FTLD-TDP, GRN-RELATED|FTLDU|PPA, INCLUDED Mental disorder|Metabolic disease|Nervous system disease Frostbite MESH:D005627 Damage to tissues as the result of low environmental temperatures. MESH:D000067390|MESH:D014947 C26.212.500|C26.417 C26|C26.212 Frostbites Wounds and injuries Fructose-1,6-Diphosphatase Deficiency MESH:D015319 DO:DOID:5204|OMIM:229700 An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal. MESH:D015318 C16.320.565.202.251.221|C18.452.648.202.251.221 C16.320.565.202.251|C18.452.648.202.251 Deficiencies, Fructose-1,6-Bisphosphatase|Deficiencies, Fructose-1,6-Diphosphatase|Deficiencies, Fructose-Biphosphatase|Deficiencies, Fructosediphosphatase|Deficiencies, Hexosediphosphatase|Deficiency, Fructose-1,6-Bisphosphatase|Deficiency, Fructose-1,6-Diphosphatase|Deficiency, Fructose-Biphosphatase|Deficiency, Fructosediphosphatase|Deficiency, Hexosediphosphatase|FBP1D|Fructose-1,6-Bisphosphatase Deficiencies|Fructose 1,6 Bisphosphatase Deficiency|Fructose-1,6-Bisphosphatase Deficiency|Fructose-1,6-Diphosphatase Deficiencies|Fructose 1,6 Diphosphatase Deficiency|Fructose-Biphosphatase Deficiencies|Fructose Biphosphatase Deficiency|Fructose-Biphosphatase Deficiency|Fructosediphosphatase Deficiencies|Fructosediphosphatase Deficiency|Hexosediphosphatase Deficiencies|Hexosediphosphatase Deficiency Genetic disease (inborn)|Metabolic disease Fructose and Galactose Intolerance MESH:C565558 MESH:D002239 C16.320.565.202/C565558|C18.452.648.202/C565558 C16.320.565.202|C18.452.648.202 Genetic disease (inborn)|Metabolic disease Fructose Intolerance MESH:D005633 DO:DOID:9869|OMIM:229600 An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet. MESH:D015318 C16.320.565.202.251.271|C18.452.648.202.251.271 C16.320.565.202.251|C18.452.648.202.251 ALDOB Deficiencies|ALDOB Deficiency|Aldolase B Deficiencies|Aldolase B Deficiency|Aldolase Deficiencies, Fructose-1,6-Biphosphate|Aldolase Deficiencies, Fructose-1-Phosphate|Aldolase Deficiency, Fructose-1,6-Biphosphate|Aldolase Deficiency, Fructose-1-Phosphate|Deficiencies, ALDOB|Deficiencies, Aldolase B|Deficiencies, Fructose-1,6-Biphosphate Aldolase|Deficiencies, Fructose-1-Phosphate Aldolase|Deficiency, ALDOB|Deficiency, Aldolase B|Deficiency, Fructose-1,6-Biphosphate Aldolase|Deficiency, Fructose-1-Phosphate Aldolase|Fructose-1,6-Biphosphate Aldolase Deficiencies|Fructose 1,6 Biphosphate Aldolase Deficiency|Fructose-1,6-Biphosphate Aldolase Deficiency|Fructose 1,6 Bisphosphate Aldolase B Deficiency|Fructose-1,6-Bisphosphate Aldolase B Deficiency|Fructose-1-Phosphate Aldolase Deficiencies|Fructose 1 Phosphate Aldolase Deficiency|Fructose-1-Phosphate Aldolase Deficiency|Fructose Aldolase B Deficiency|Fructose Intolerance, Hereditary|Fructose Intolerances|Fructose Intolerances, Hereditary|Fructosemia|Fructosemias|Hereditary Fructose Intolerance|Hereditary Fructose Intolerances|HFI|Intolerance, Fructose|Intolerances, Fructose Genetic disease (inborn)|Metabolic disease Fructose Metabolism, Inborn Errors MESH:D015318 Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test. MESH:D002239 C16.320.565.202.251|C18.452.648.202.251 C16.320.565.202|C18.452.648.202 Genetic disease (inborn)|Metabolic disease Fructosuria MESH:C538068 DO:DOID:0111680|OMIM:229800 MESH:D015318 C16.320.565.202.251/C538068|C18.452.648.202.251/C538068 C16.320.565.202.251|C18.452.648.202.251 Essential benign fructosuria|FRUCTOSURIA, ESSENTIAL|Hepatic fructokinase deficiency|Ketohexokinase deficiency Genetic disease (inborn)|Metabolic disease Fryns-Aftimos Syndrome MESH:C565258 MESH:D004827|MESH:D008607|MESH:D019066|MESH:D019465|MESH:D054082 C05.660.207/C565258|C10.228.140.490/C565258|C10.500.507.450.499/C565258|C10.597.606.360/C565258|C16.131.621.207/C565258|C16.131.666.507.450.499/C565258|C23.550.291.812/C565258|C23.888.592.604.646/C565258|F03.625.539/C565258 C05.660.207|C10.228.140.490|C10.500.507.450.499|C10.597.606.360|C16.131.621.207|C16.131.666.507.450.499|C23.550.291.812|C23.888.592.604.646|F03.625.539 Cerebrooculofacial Lymphatic Syndrome|Mental Retardation with Epilepsy and Characteristic Facies|Pachygyria, Mental Retardation, Epilepsy, and Characteristic Facies Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms fryns hofkens fabry syndrome MESH:C538069 MESH:D001848|MESH:D038062 C05.116.099/C538069|C05.660.585.988/C538069|C16.131.621.585.988/C538069 C05.116.099|C05.660.585.988|C16.131.621.585.988 ulna hypoplasia|ulnar hypoplasia|upper limb mesomelic dysplasia Congenital abnormality|Musculoskeletal disease Fryns Macrocephaly MESH:C563963 MESH:D010264|MESH:D019066|MESH:D058627 C05.660.207.536/C563963|C10.500.507.400.249/C563963|C10.597.622.669/C563963|C16.131.621.207.532/C563963|C16.131.666.507.400.249/C563963|C23.550.291.812/C563963|C23.888.592.636.637/C563963 C05.660.207.536|C10.500.507.400.249|C10.597.622.669|C16.131.621.207.532|C16.131.666.507.400.249|C23.550.291.812|C23.888.592.636.637 Macrocephaly with Spastic Paraplegia and Distinctive Craniofacial Appearance Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Fryns syndrome MESH:C538070 MESH:D006548|MESH:D017880|MESH:D019066 C05.660.585/C538070|C16.131.621.585/C538070|C23.300.707.960.500/C538070|C23.550.291.812/C538070 C05.660.585|C16.131.621.585|C23.300.707.960.500|C23.550.291.812 Diaphragmatic hernia, abnormal face, and distal limb anomalies|Moerman Van den berghe Fryns syndrome Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process) Fuchs atrophia gyrata chorioideae et retinae MESH:C538071 MESH:D005642 C11.204.236.438/C538071|C11.270.162.438/C538071|C16.320.290.162.410/C538071 C11.204.236.438|C11.270.162.438|C16.320.290.162.410 Fuchs gyrate atrophy|Fuchs gyrate atrophy of the choroid and retina Eye disease|Genetic disease (inborn) Fuchs' Endothelial Dystrophy MESH:D005642 DO:DOID:11555 Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain. MESH:D003317 C11.204.236.438|C11.270.162.438|C16.320.290.162.410 C11.204.236|C11.270.162|C16.320.290.162 Dystrophy, Fuch's Endothelial|Dystrophy, Fuchs' Endothelial|Endothelial Dystrophy, Fuch's|Endothelial Dystrophy, Fuchs'|Fuch Endothelial Dystrophy|Fuchs Atrophy|Fuchs Corneal Dystrophy|Fuchs Dystrophy|Fuchs Endothelial Corneal Dystrophy|Fuch's Endothelial Dystrophy|Fuchs Endothelial Dystrophy Eye disease|Genetic disease (inborn) Fucosidosis MESH:D005645 DO:DOID:14500|OMIM:230000 An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31) MESH:D002239|MESH:D020140 C10.228.140.163.100.435.295|C16.320.565.189.435.295|C16.320.565.202.303|C16.320.565.595.554.295|C18.452.132.100.435.295|C18.452.648.189.435.295|C18.452.648.202.303|C18.452.648.595.554.295 C10.228.140.163.100.435|C16.320.565.189.435|C16.320.565.202|C16.320.565.595.554|C18.452.132.100.435|C18.452.648.189.435|C18.452.648.202|C18.452.648.595.554 Alpha-Fucosidase Deficiency|alpha Fucosidase Deficiency Disease|alpha-Fucosidase Deficiency Disease|alpha-Fucosidase Deficiency Diseases|alpha-L-Fucosidase Deficiency|alpha L Fucosidase Deficiency Disease|alpha-L-Fucosidase Deficiency Disease|alpha-L-Fucosidase Deficiency Diseases|Deficiency Disease, alpha Fucosidase|Deficiency Disease, alpha-Fucosidase|Deficiency Disease, alpha L Fucosidase|Deficiency Disease, alpha-L-Fucosidase|Deficiency Disease, Fucosidase|Deficiency Diseases, alpha-Fucosidase|Deficiency Diseases, alpha-L-Fucosidase|Deficiency Diseases, Fucosidase|Disease, alpha-Fucosidase Deficiency|Disease, alpha-L-Fucosidase Deficiency|Disease, Fucosidase Deficiency|Diseases, alpha-Fucosidase Deficiency|Diseases, alpha-L-Fucosidase Deficiency|Diseases, Fucosidase Deficiency|Fucosidase Deficiency|Fucosidase Deficiency Disease|Fucosidase Deficiency Diseases|Fucosidosis, Infantile|Fucosidosis, Juvenile|Fucosidosis Type 1|Fucosidosis Type 1s|Fucosidosis Type I|Fucosidosis Type II|Infantile Fucosidosis|Juvenile Fucosidosis|Type 1, Fucosidosis|Type 1s, Fucosidosis Genetic disease (inborn)|Metabolic disease|Nervous system disease Fuhrmann syndrome MESH:C538189 DO:DOID:0090067|OMIM:228930 MESH:D005532|MESH:D006228 C05.330.495/C538189|C05.390.408/C538189|C05.660.585.512.380/C538189|C05.660.585.988.425/C538189|C16.131.621.585.512.500/C538189|C16.131.621.585.988.500/C538189 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY|FUHRMANN SYNDROME Congenital abnormality|Musculoskeletal disease Fumaric aciduria MESH:C538191 DO:DOID:0111261|OMIM:606812 MESH:D008661|MESH:D009123|MESH:D011596 C10.597.606.881/C538191|C10.597.613.575/C538191|C16.320.565/C538191|C18.452.648/C538191|C23.888.592.604.882/C538191|C23.888.592.608.575/C538191 C10.597.606.881|C10.597.613.575|C16.320.565|C18.452.648|C23.888.592.604.882|C23.888.592.608.575 FMRD|Fumarase deficiency|Fumarate Hydratase Deficiency|Fumaricaciduria|FUMARIC ACIDURIA Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Fundus Albipunctatus MESH:C562733 DO:DOID:11105|OMIM:136880 MESH:D012164 C11.768/C562733 C11.768 Retinitis Punctata Albescens|RETINITIS PUNCTATA ALBESCENS, INCLUDED Eye disease Fundus Dystrophy, Pseudoinflammatory, Of Sorsby MESH:C564992 OMIM:136900 MESH:D008268 C11.768.585.439/C564992 C11.768.585.439 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY|Macular Dystrophy, Hemorrhagic|SFD|SORSBY FUNDUS DYSTROPHY Eye disease Fungemia MESH:D016469 The presence of fungi circulating in the blood. Opportunistic fungal sepsis is seen most often in immunosuppressed patients with severe neutropenia or in postoperative patients with intravenous catheters and usually follows prolonged antibiotic therapy. MESH:D000072742|MESH:D018805 C01.150.703.492.594|C01.757.360|C23.550.470.790.500.360 C01.150.703.492|C01.757|C23.550.470.790.500 Bacterial infection or mycosis|Pathology (process) Funnel Chest MESH:D005660 A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax. MESH:D001848|MESH:D009139 C05.116.099.386|C05.660.386|C16.131.621.386 C05.116.099|C05.660|C16.131.621 Chest, Funnel|Chests, Funnel|Excavatum, Pectus|Funnel Chests|Pectus Excavatum Congenital abnormality|Musculoskeletal disease Furcation Defects MESH:D017823 Conditions in which a bifurcation or trifurcation of the molar tooth root becomes denuded as a result of periodontal disease. It may be followed by tooth mobility, temperature sensitivity, pain, and alveolar bone resorption. MESH:D010510 C07.465.714.204 C07.465.714 Defect, Furcation|Defects, Furcation|Furcation Defect Mouth disease Furlong syndrome MESH:C538192 MESH:D003398|MESH:D008382 C05.116.099.370.894.232/C538192|C05.116.099.674/C538192|C05.660.207.240/C538192|C05.660.906.364/C538192|C14.240.400.725/C538192|C14.280.400.725/C538192|C16.131.077.550/C538192|C16.131.240.400.720/C538192|C16.131.621.207.240/C538192|C16.131.621.906.364/C538192|C16.320.540/C538192|C17.300.500/C538192 C05.116.099.370.894.232|C05.116.099.674|C05.660.207.240|C05.660.906.364|C14.240.400.725|C14.280.400.725|C16.131.077.550|C16.131.240.400.720|C16.131.621.207.240|C16.131.621.906.364|C16.320.540|C17.300.500 Marfanoid disorder with craniosynostosis, type 2 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Furukawa Takagi Nakao syndrome MESH:C538193 MESH:D002524|MESH:D003920|MESH:D009133|MESH:D012174 C10.228.140.252.190/C538193|C10.597.350.090.500/C538193|C10.597.613.612/C538193|C11.270.684/C538193|C11.768.585.658.500/C538193|C16.320.290.684/C538193|C18.452.394.750/C538193|C19.246/C538193|C23.300.070.500/C538193|C23.888.592.350.090.200/C538193|C23.888.592.608.612/C538193 C10.228.140.252.190|C10.597.350.090.500|C10.597.613.612|C11.270.684|C11.768.585.658.500|C16.320.290.684|C18.452.394.750|C19.246|C23.300.070.500|C23.888.592.350.090.200|C23.888.592.608.612 Endocrine system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Furunculosis MESH:D005667 A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of STAPHYLOCOCCUS. In salmonid fish (SALMONIDS), the pathogen is AEROMONAS SALMONICIDA. MESH:D005393|MESH:D013207 C01.150.252.410.868.951.270|C01.150.252.819.770.270|C01.800.720.770.270|C17.800.838.765.770.270|C22.362.224 C01.150.252.410.868.951|C01.150.252.819.770|C01.800.720.770|C17.800.838.765.770|C22.362 Boils|Furuncles Animal disease|Bacterial infection or mycosis|Skin disease Furunculous myiasis MESH:C538194 MESH:D009198 C01.610.858.211.503/C538194 C01.610.858.211.503 Furuncular myiasis Parasitic disease Fusariosis MESH:D060585 DO:DOID:0050289 OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections. MESH:D060605 C01.150.703.302.383.500|C01.800.200.383.500|C17.800.838.208.416.500 C01.150.703.302.383|C01.800.200.383|C17.800.838.208.416 Disseminated Fusarioses|Disseminated Fusariosis|Fusarioses|Fusarioses, Disseminated|Fusarioses, Invasive|Fusarioses, Invasive Pulmonary|Fusarioses, Pulmonary|Fusariosis, Disseminated|Fusariosis, Invasive|Fusariosis, Invasive Pulmonary|Fusariosis, Pulmonary|Fusarium Infection|Fusarium Infections|Infection, Fusarium|Infections, Fusarium|Invasive Fusarioses|Invasive Fusariosis|Invasive Pulmonary Fusarioses|Invasive Pulmonary Fusariosis|Pulmonary Fusarioses|Pulmonary Fusariosis Bacterial infection or mycosis|Skin disease Fused Kidney MESH:D000069337 Congenital fusion of two kidneys. MESH:D014564 C12.050.351.875.420|C12.200.706.445|C12.800.445|C16.131.939.445 C12.050.351.875|C12.200.706|C12.800|C16.131.939 Cake Kidney|Cake Kidneys|Congenital Fusion of Kidneys|Congenital Lobulation of Kidneys|Crossed Fused Ectopia|Crossed Fused Ectopia of Kidneys|Crossed Fused Ectopias|Fused Kidneys|Fusion of Kidney|Fusion, Renal|Fusions, Renal|Horseshoe Kidney|Horseshoe Kidneys|Kidney, Cake|Kidney, Fused|Kidney Fusion|Kidney Fusions|Kidney, Horseshoe|Kidney, Lobulated|Kidney Lobulation|Kidney Lobulations|Kidneys, Cake|Kidneys, Fused|Kidneys, Horseshoe|Kidneys, Lobulated|Lobulated Kidney|Lobulated Kidneys|Lobulation of Kidney|Pelvic Cake Kidney|Pelvic Cake Kidneys|Renal Fusion|Renal Fusions Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Fused Teeth MESH:D005671 Two teeth united during development by the union of their tooth germs; the teeth may be joined by the enamel of their crowns, by their root dentin, or by both. MESH:D014071 C07.650.800.370|C07.793.700.370|C16.131.850.800.370 C07.650.800|C07.793.700|C16.131.850.800 Double Tooth|Fused Mandibular Incisor|Fused Mandibular Incisors|Incisor, Fused Mandibular|Incisors, Fused Mandibular|Mandibular Incisor, Fused|Mandibular Incisors, Fused|Teeth, Fused|Tooth, Double Congenital abnormality|Mouth disease Fusobacteriaceae Infections MESH:D045825 Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA. MESH:D016905 C01.150.252.400.388 C01.150.252.400 Fusobacteriaceae Infection|Infection, Fusobacteriaceae|Infections, Fusobacteriaceae Bacterial infection or mycosis Fusobacterium Infections MESH:D005674 DO:DOID:11337 Infections with bacteria of the genus FUSOBACTERIUM. MESH:D045825 C01.150.252.400.388.350 C01.150.252.400.388 Fusobacterium Infection|Infection, Fusobacterium|Infections, Fusobacterium|Infection, Sphaerophorus|Infections, Sphaerophorus|Necrobacilloses|Necrobacillosis|Sphaerophorus Infection|Sphaerophorus Infections Bacterial infection or mycosis Gagging MESH:D005683 Contraction of the muscle of the PHARYNX caused by stimulation of sensory receptors on the SOFT PALATE, by psychic stimuli, or systemically by drugs. MESH:D012817 C23.888.821.414 C23.888.821 Pharyngeal Reflex|Reflex, Pharyngeal Signs and symptoms Gait Apraxia MESH:D020235 DO:DOID:4260 Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia. MESH:D001072|MESH:D020233 C10.597.404.400|C10.597.606.881.350.600|C23.888.592.413.400|C23.888.592.604.882.350.600 C10.597.404|C10.597.606.881.350|C23.888.592.413|C23.888.592.604.882.350 Apraxia, Bruns' Gait|Apraxia, Frontal Gait|Apraxia, Gait|Apraxia of Gait|Apraxias, Bruns' Gait|Apraxias, Frontal Gait|Apraxias, Gait|Bruns Apraxia, Gait|Bruns' Apraxia, Gait|Bruns' Apraxia of Gait|Bruns Gait Apraxia|Bruns' Gait Apraxia|Bruns' Gait Apraxias|Dyspraxia of Gait|Frontal Gait Apraxia|Frontal Gait Apraxias|Gait Apraxia, Bruns'|Gait Apraxia, Frontal|Gait Apraxias|Gait Apraxias, Bruns'|Gait Apraxias, Frontal|Gait Dyspraxia|Gait Dyspraxias Nervous system disease|Signs and symptoms Gait Ataxia MESH:D020234 Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES. MESH:D001259|MESH:D020233 C10.597.350.090.750|C10.597.404.450|C23.888.592.350.090.600|C23.888.592.413.450 C10.597.350.090|C10.597.404|C23.888.592.350.090|C23.888.592.413 Ataxia, Cerebellar Gait|Ataxia, Gait|Ataxia of Gait|Ataxias, Cerebellar Gait|Ataxia, Sensory Gait|Ataxias, Gait|Ataxias, Sensory Gait|Cerebellar Gait|Cerebellar Gait Ataxia|Cerebellar Gait Ataxias|Cerebellar Gaits|Gait Ataxia, Cerebellar|Gait Ataxias|Gait Ataxias, Cerebellar|Gait Ataxia, Sensory|Gait Ataxias, Sensory|Gait, Cerebellar|Gaits, Cerebellar|Sensory Gait Ataxia|Sensory Gait Ataxias Nervous system disease|Signs and symptoms Gait Disorders, Neurologic MESH:D020233 Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES. MESH:D009461 C10.597.404|C23.888.592.413 C10.597|C23.888.592 Ambulation Disorder, Neurologic|Ambulation Disorders, Neurologic|Athetotic Gait|Broadened Gait|Charcot Gait|Charcot Gaits|Charcot's Gait|Charcots Gait|Drop Foot Gait|Duck Gait|Festinating Gait|Foot Gait, Drop|Frontal Gait|Gait, Athetotic|Gait, Broadened|Gait, Charcot|Gait, Charcot's|Gait Disorder, Neurologic|Gait Disorder, Sensorimotor|Gait Disorders, Sensorimotor|Gait, Drop Foot|Gait, Duck|Gait Dysfunction, Neurologic|Gait Dysfunctions, Neurologic|Gait, Festinating|Gait, Frontal|Gait, Hemiplegic|Gait, Hysterical|Gait, Reeling|Gait, Rigid|Gaits, Charcot|Gait, Scissors|Gait, Shuffling|Gait, Spastic|Gait, Stumbling|Gait, Unsteady|Gait, Widebased|Hemiplegic Gait|Hysterical Gait|Locomotion Disorder, Neurologic|Locomotion Disorders, Neurologic|Marche a Petit Pas|Neurologic Ambulation Disorder|Neurologic Ambulation Disorders|Neurologic Gait Disorder|Neurologic Gait Disorders|Neurologic Gait Dysfunction|Neurologic Gait Dysfunctions|Neurologic Locomotion Disorder|Neurologic Locomotion Disorders|Rapid Fatigue of Gait|Reeling Gait|Rigid Gait|Scissors Gait|Sensorimotor Gait Disorder|Sensorimotor Gait Disorders|Shuffling Gait|Shuffling Gaits|Spastic Gait|Stumbling Gait|Unsteady Gait|Widebased Gait Nervous system disease|Signs and symptoms Galactocele MESH:C535998 DO:DOID:10686 MESH:D047688 C04.182.156/C535998|C17.800.090.249/C535998 C04.182.156|C17.800.090.249 Galactocoele|Galactocoele of childhood|Lacteal cyst|Lactocele Cancer|Skin disease Galactorrhea MESH:D005687 Excessive or inappropriate LACTATION in females or males, and not necessarily related to PREGNANCY. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is HYPERPROLACTINEMIA. MESH:D007775 C12.050.703.844.506.389|C17.800.090.937.439 C12.050.703.844.506|C17.800.090.937 Galactorrheas Pregnancy complication|Skin disease Galactorrhea-Hyperprolactinemia MESH:C535402 MESH:D005687|MESH:D006966 C10.228.140.617.738.250.450/C535402|C12.050.703.844.506.389/C535402|C17.800.090.937.439/C535402|C19.700.355.600/C535402 C10.228.140.617.738.250.450|C12.050.703.844.506.389|C17.800.090.937.439|C19.700.355.600 Galactorrhoea-Hyperprolactinaemia Endocrine system disease|Nervous system disease|Pregnancy complication|Skin disease Galactosemias MESH:D005693 DO:DOID:0111458|DO:DOID:0111459|DO:DOID:14695|DO:DOID:9870|OMIM:230200|OMIM:230350|OMIM:230400 A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3) MESH:D002239|MESH:D020739 C10.228.140.163.100.320|C16.320.565.189.320|C16.320.565.202.355|C18.452.132.100.320|C18.452.648.189.320|C18.452.648.202.355 C10.228.140.163.100|C16.320.565.189|C16.320.565.202|C18.452.132.100|C18.452.648.189|C18.452.648.202 Classic Galactosemia|Classic Galactosemias|Deficiencies, Galactokinase|Deficiencies, Galactose-1-Phosphate Uridyltransferase|Deficiencies, Galactose-1-Phosphate Uridylyltransferase|Deficiencies, Galactose Epimerase|Deficiencies, GALE|Deficiencies, GALK|Deficiencies, GALT|Deficiencies, Hereditary Galactokinase|Deficiencies, UDP-Galactose-4-Epimerase|Deficiency Disease, Galactokinase|Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase|Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase|Deficiency Diseases, UDP-Galactose-4-Epimerase|Deficiency Disease, UDP Galactose 4 Epimerase|Deficiency Disease, UDP-Galactose-4-Epimerase|Deficiency Disease, UDPglucose 4 Epimerase|Deficiency Disease, UDPglucose 4-Epimerase|Deficiency, Galactokinase|Deficiency, Galactose-1-Phosphate Uridyltransferase|Deficiency, Galactose-1-Phosphate Uridylyltransferase|Deficiency, Galactose Epimerase|Deficiency Galactosemia, Epimerase|Deficiency Galactosemias, Epimerase|Deficiency, GALE|Deficiency, GALK|Deficiency, GALT|Deficiency, Hereditary Galactokinase|Deficiency, UDP-Galactose-4-Epimerase|Epimerase Deficiency Galactosemia|Epimerase Deficiency Galactosemias|GALAC1|GALAC2|GALAC3|Galactokinase Deficiencies|Galactokinase Deficiencies, Hereditary|Galactokinase Deficiency|Galactokinase Deficiency Disease|Galactokinase Deficiency Diseases|Galactokinase Deficiency, Hereditary|Galactose-1-Phosphate Uridyltransferase Deficiencies|Galactose 1 Phosphate Uridyltransferase Deficiency|Galactose-1-Phosphate Uridyltransferase Deficiency|Galactose 1 Phosphate Uridyl Transferase Deficiency Disease|Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease|Galactose-1-Phosphate Uridylyltransferase Deficiencies|Galactose 1 Phosphate Uridylyltransferase Deficiency|Galactose-1-Phosphate Uridylyltransferase Deficiency|Galactose Epimerase Deficiencies|Galactose Epimerase Deficiency|Galactosemia|Galactosemia 2|Galactosemia 2s|Galactosemia 3|Galactosemia 3s|Galactosemia, Classic|GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT, INCLUDED|Galactosemia, Epimerase Deficiency|GALACTOSEMIA I|GALACTOSEMIA II|Galactosemia III|Galactosemia IIIs|Galactosemias, Classic|Galactosemias, Epimerase Deficiency|GALE Deficiencies|GALE Deficiency|GALK Deficiencies|GALK Deficiency|GALT Deficiencies|GALT Deficiency|Hereditary Galactokinase Deficiencies|Hereditary Galactokinase Deficiency|UDP-Galactose-4-Epimerase Deficiencies|UDP Galactose 4 Epimerase Deficiency|UDP-Galactose-4-Epimerase Deficiency|UDP Galactose 4 Epimerase Deficiency Disease|UDP-Galactose-4-Epimerase Deficiency Disease|UDP-Galactose-4-Epimerase Deficiency Diseases|UDPglucose 4 Epimerase Deficiency Disease|UDPglucose 4-Epimerase Deficiency Disease|UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency|UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency|Uridyltransferase Deficiencies, Galactose-1-Phosphate|Uridyltransferase Deficiency, Galactose-1-Phosphate|Uridylyltransferase Deficiencies, Galactose-1-Phosphate|Uridylyltransferase Deficiency, Galactose-1-Phosphate|UTP Hexose 1 Phosphate Uridylyltransferase Deficiency|UTP Hexose-1-Phosphate Uridylyltransferase Deficiency|UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease|UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease Genetic disease (inborn)|Metabolic disease|Nervous system disease Galeazzi fractures MESH:C000720119 MESH:D011885 C26.088.268.556/C000720119|C26.404.562/C000720119 C26.088.268.556|C26.404.562 Wounds and injuries Gallbladder, Agenesis Of MESH:C562564 MESH:D000013 C16.131/C562564 C16.131 Congenital abnormality GALLBLADDER DISEASE 1 OMIM:600803 DO:DOID:1949 MESH:D002764|MESH:D002769|MESH:D042882 C06.130.409/600803|C06.130.409.633/600803|C06.130.564.263/600803|C06.130.564.332.500/600803|C23.300.175.525/600803 C06.130.409|C06.130.409.633|C06.130.564.263|C06.130.564.332.500|C23.300.175.525 CHOLELITHIASIS, LOW PHOSPHOLIPID-ASSOCIATED|GBD1|LPAC Digestive system disease|Pathology (anatomical condition) Gallbladder Disease 2 MESH:C563687 OMIM:609918 MESH:D005705 C06.130.564/C563687 C06.130.564 GBD2 Digestive system disease Gallbladder Disease 3 MESH:C563686 OMIM:609919 MESH:D005705 C06.130.564/C563686 C06.130.564 GBD3 Digestive system disease Gallbladder Disease 4 MESH:C566936 OMIM:611465 MESH:D005705 C06.130.564/C566936 C06.130.564 GBD4 Digestive system disease Gallbladder Diseases MESH:D005705 DO:DOID:0060262 Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases. MESH:D001660 C06.130.564 C06.130 Bladder Disease, Gall|Bladder Diseases, Gall|Disease, Gallbladder|Disease, Gall Bladder|Diseases, Gallbladder|Diseases, Gall Bladder|Gallbladder Disease|Gall Bladder Disease|Gall Bladder Diseases Digestive system disease Gallbladder Neoplasms MESH:D005706 DO:DOID:3121 Tumors or cancer of the gallbladder. MESH:D001661|MESH:D005705 C04.588.274.120.401|C06.130.320.401|C06.130.564.401|C06.301.120.401 C04.588.274.120|C06.130.320|C06.130.564|C06.301.120 Bladder Cancer, Gall|Bladder Cancers, Gall|Cancer, Gallbladder|Cancer, Gall Bladder|Cancer of Gallbladder|Cancer of the Gallbladder|Cancers, Gallbladder|Cancers, Gall Bladder|Gallbladder Cancer|Gall Bladder Cancer|Gallbladder Cancers|Gall Bladder Cancers|Gallbladder Neoplasm|Neoplasm, Gallbladder|Neoplasms, Gallbladder Cancer|Digestive system disease Galloway Mowat syndrome MESH:C537548 DO:DOID:0080694|OMIM:251300 MESH:D006551|MESH:D008831|MESH:D009401 C05.660.207.620/C537548|C10.500.507.400.500/C537548|C12.050.351.968.419.630/C537548|C12.200.777.419.630/C537548|C12.950.419.630/C537548|C16.131.621.207.620/C537548|C16.131.666.507.400.500/C537548|C23.300.707.960.500.467/C537548 C05.660.207.620|C10.500.507.400.500|C12.050.351.968.419.630|C12.200.777.419.630|C12.950.419.630|C16.131.621.207.620|C16.131.666.507.400.500|C23.300.707.960.500.467 CAMOS|CEREBELLAR ATAXIA WITH MENTAL RETARDATION, OPTIC ATROPHY, AND SKIN ABNORMALITIES|Galloway-Mowat Syndrome|GALLOWAY-MOWAT SYNDROME 1|Galloway syndrome|GAMOS1|Microcephaly, hiatal hernia and nephrotic syndrome|MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME|Microcephaly, Hiatus Hernia, And Nephrotic Syndrome|Microcephaly nephrosis syndrome|Nephrosis-Microcephaly Syndrome|Nephrosis neuronal dysmigration syndrome|Nephrosis-Neuronal Dysmigration Syndrome|SCAR5, FORMERLY|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5, FORMERLY Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Gallstones MESH:D042882 Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin. MESH:D002137|MESH:D002769|MESH:D041761 C06.130.409.633|C06.130.564.332.500|C23.300.175.525 C06.130.409|C06.130.564.332|C23.300.175 Biliary Calculi|Biliary Calculi, Common Bile Duct|Calculi, Biliary|Common Bile Duct Calculi|Common Bile Duct Gallstone|Common Bile Duct Gall Stone|Common Bile Duct Gallstones|Common Bile Duct Gall Stones|Gallstone|Gall Stone|Gall Stones|Gallstones, Common Bile Duct|Gall Stones, Common Bile Duct Digestive system disease|Pathology (anatomical condition) Gambling MESH:D005715 DO:DOID:12399 An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money. MESH:D007174 F03.250.400 F03.250 Gambling, Pathologic|Gambling, Pathological|Gamblings|Gamblings, Pathological|Pathological Gambling|Pathological Gamblings Mental disorder Game Friedman Paradice syndrome MESH:C535406 MESH:D005532|MESH:D006130|MESH:D006849|MESH:D019465 C05.330.495/C535406|C05.660.207/C535406|C05.660.585.512.380/C535406|C10.228.140.602/C535406|C16.131.621.207/C535406|C16.131.621.585.512.500/C535406|C23.550.393/C535406 C05.330.495|C05.660.207|C05.660.585.512.380|C10.228.140.602|C16.131.621.207|C16.131.621.585.512.500|C23.550.393 Hydrocephalus with associated malformations Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process) Gamma-A-Globulin, Defect in Assembly of MESH:C564991 MESH:D017098 C15.378.147.333.500/C564991|C20.673.430.500/C564991 C15.378.147.333.500|C20.673.430.500 IgA, Defect in Assembly of|Immunoglobulin A, Defect in Assembly of Blood disease|Immune system disease Gamma aminobutyric acid transaminase deficiency MESH:C535407 OMIM:613163 MESH:D000592 C16.320.565.100/C535407|C18.452.648.100/C535407 C16.320.565.100|C18.452.648.100 4 alpha aminobutyrate transaminase deficiency|Gaba-Transaminase Deficiency|GABA transaminase deficiency|Gamma aminobutyrate transaminase deficiency Genetic disease (inborn)|Metabolic disease Gamma-cystathionase deficiency MESH:C535408 DO:DOID:0090142|OMIM:219500 MESH:D020138 C16.320.565.100.480/C535408|C18.452.603.378/C535408|C18.452.648.100.480/C535408|C18.654.521.500.133.699.418/C535408 C16.320.565.100.480|C18.452.603.378|C18.452.648.100.480|C18.654.521.500.133.699.418 CYSTATHIONASE DEFICIENCY|Cystathioninuria Genetic disease (inborn)|Metabolic disease|Nutrition disorder Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to MESH:C565557 DO:DOID:0111681|OMIM:230450 MESH:D000743 C15.378.071.141/C565557 C15.378.071.141 Blood disease Gamophobia MESH:C000719202 MESH:D010698 F03.080.725/C000719202 F03.080.725 Fear of marriage|Phobia, marriage Mental disorder GAND SYNDROME OMIM:615074 DO:DOID:0070048 MESH:D008607 C10.597.606.360/615074|C23.888.592.604.646/615074|F03.625.539/615074 C10.597.606.360|C23.888.592.604.646|F03.625.539 GAND|MENTAL RETARDATION, AUTOSOMAL DOMINANT 18|MRD18 Mental disorder|Nervous system disease|Signs and symptoms Ganglioglioma MESH:D018303 DO:DOID:5078 Rare indolent tumors comprised of neoplastic glial and neuronal cells which occur primarily in children and young adults. Benign lesions tend to be associated with long survival unless the tumor degenerates into a histologically malignant form. They tend to occur in the optic nerve and white matter of the brain and spinal cord. MESH:D005910 C04.557.465.625.600.380.350|C04.557.470.670.380.350|C04.557.580.625.600.380.350 C04.557.465.625.600.380|C04.557.470.670.380|C04.557.580.625.600.380 Benign Ganglioglioma|Benign Gangliogliomas|Ganglioglioma, Benign|Ganglioglioma, Intracranial|Ganglioglioma, Malignant|Gangliogliomas|Gangliogliomas, Benign|Gangliogliomas, Intracranial|Gangliogliomas, Malignant|Intracranial Ganglioglioma|Intracranial Gangliogliomas|Malignant Ganglioglioma|Malignant Gangliogliomas Cancer Ganglion Cysts MESH:D045888 Nodular tumor-like lesions or mucoid flesh, arising from tendon sheaths, LIGAMENTS, or JOINT CAPSULE, especially of the hands, wrists, or feet. They are not true cysts as they lack epithelial wall. They are distinguished from SYNOVIAL CYSTS by the lack of communication with a joint cavity or the SYNOVIAL MEMBRANE. MESH:D003560|MESH:D017520 C04.182.347|C17.300.550.274 C04.182|C17.300.550 Cyst, Ganglion|Cyst, Ganglionic|Cyst, Myxoid|Cysts, Ganglion|Cysts, Ganglionic|Cysts, Myxoid|Ganglion|Ganglion Cyst|Ganglionic Cyst|Ganglionic Cysts|Ganglions|Myxoid Cyst|Myxoid Cysts Cancer|Connective tissue disease Ganglioneuroblastoma MESH:D018305 DO:DOID:4163 A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea. MESH:D009447 C04.557.465.625.600.590.650.550.300|C04.557.470.670.590.650.550.300|C04.557.580.625.600.590.650.550.300 C04.557.465.625.600.590.650.550|C04.557.470.670.590.650.550|C04.557.580.625.600.590.650.550 Ganglioneuroblastomas Cancer Ganglioneuroma MESH:D005729 DO:DOID:2426|DO:DOID:4817 A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p966) MESH:D018302 C04.557.465.625.600.355|C04.557.470.670.355|C04.557.580.625.600.355 C04.557.465.625.600|C04.557.470.670|C04.557.580.625.600 Gangliocytoma|Gangliocytomas|Ganglioneuromas Cancer Ganglioneuromatosis of the Alimentary Tract MESH:C563519 MESH:D004067|MESH:D005729|MESH:D018814 C04.557.465.625.600.355/C563519|C04.557.470.670.355/C563519|C04.557.580.625.600.355/C563519|C04.588.274/C563519|C04.588.322.400.510/C563519|C04.651.600.510/C563519|C04.700.630.510/C563519|C06.301/C563519|C16.320.700.630.510/C563519|C19.344.400.510/C563519 C04.557.465.625.600.355|C04.557.470.670.355|C04.557.580.625.600.355|C04.588.274|C04.588.322.400.510|C04.651.600.510|C04.700.630.510|C06.301|C16.320.700.630.510|C19.344.400.510 Cancer|Digestive system disease|Endocrine system disease|Genetic disease (inborn) Gangliosidoses MESH:D005733 DO:DOID:2368 A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. MESH:D013106 C10.228.140.163.100.435.825.300|C16.320.565.189.435.825.300|C16.320.565.398.641.803.350|C16.320.565.595.554.825.300|C18.452.132.100.435.825.300|C18.452.584.563.641.803.350|C18.452.648.189.435.825.300|C18.452.648.398.641.803.350|C18.452.648.595.554.825.300 C10.228.140.163.100.435.825|C16.320.565.189.435.825|C16.320.565.398.641.803|C16.320.565.595.554.825|C18.452.132.100.435.825|C18.452.584.563.641.803|C18.452.648.189.435.825|C18.452.648.398.641.803|C18.452.648.595.554.825 Ganglioside Storage Disease|Ganglioside Storage Diseases|Ganglioside Storage Disorder|Ganglioside Storage Disorders|Gangliosidosis|Storage Disease, Ganglioside|Storage Diseases, Ganglioside|Storage Disorder, Ganglioside|Storage Disorders, Ganglioside Genetic disease (inborn)|Metabolic disease|Nervous system disease Gangliosidoses, GM2 MESH:D020143 DO:DOID:3321 A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. MESH:D005733 C10.228.140.163.100.435.825.300.300|C16.320.565.189.435.825.300.300|C16.320.565.398.641.803.350.300|C16.320.565.595.554.825.300.300|C18.452.132.100.435.825.300.300|C18.452.584.563.641.803.350.300|C18.452.648.189.435.825.300.300|C18.452.648.398.641.803.350.300|C18.452.648.595.554.825.300.300 C10.228.140.163.100.435.825.300|C16.320.565.189.435.825.300|C16.320.565.398.641.803.350|C16.320.565.595.554.825.300|C18.452.132.100.435.825.300|C18.452.584.563.641.803.350|C18.452.648.189.435.825.300|C18.452.648.398.641.803.350|C18.452.648.595.554.825.300 Gangliosidose, GM2|Gangliosidoses GM2|Gangliosidosis, GM2|GM2 Gangliosidose|GM2 Gangliosidoses|G(M2) Gangliosidoses|GM2, Gangliosidoses|GM2 Gangliosidosis Genetic disease (inborn)|Metabolic disease|Nervous system disease Gangliosidosis, Generalized GM1, Late-Infantile Type MESH:C566893 MESH:D016537 C10.228.140.163.100.435.825.300.400/C566893|C16.320.565.189.435.825.300.400/C566893|C16.320.565.398.641.803.350.360/C566893|C16.320.565.595.554.825.300.400/C566893|C18.452.132.100.435.825.300.400/C566893|C18.452.584.563.641.803.350.360/C566893|C18.452.648.189.435.825.300.400/C566893|C18.452.648.398.641.803.350.360/C566893|C18.452.648.595.554.825.300.400/C566893 C10.228.140.163.100.435.825.300.400|C16.320.565.189.435.825.300.400|C16.320.565.398.641.803.350.360|C16.320.565.595.554.825.300.400|C18.452.132.100.435.825.300.400|C18.452.584.563.641.803.350.360|C18.452.648.189.435.825.300.400|C18.452.648.398.641.803.350.360|C18.452.648.595.554.825.300.400 Genetic disease (inborn)|Metabolic disease|Nervous system disease Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement MESH:C566895 MESH:D006331|MESH:D016537 C10.228.140.163.100.435.825.300.400/C566895|C14.280/C566895|C16.320.565.189.435.825.300.400/C566895|C16.320.565.398.641.803.350.360/C566895|C16.320.565.595.554.825.300.400/C566895|C18.452.132.100.435.825.300.400/C566895|C18.452.584.563.641.803.350.360/C566895|C18.452.648.189.435.825.300.400/C566895|C18.452.648.398.641.803.350.360/C566895|C18.452.648.595.554.825.300.400/C566895 C10.228.140.163.100.435.825.300.400|C14.280|C16.320.565.189.435.825.300.400|C16.320.565.398.641.803.350.360|C16.320.565.595.554.825.300.400|C18.452.132.100.435.825.300.400|C18.452.584.563.641.803.350.360|C18.452.648.189.435.825.300.400|C18.452.648.398.641.803.350.360|C18.452.648.595.554.825.300.400 Gm1 Gangliosidosis, Type I, with Cardiac Involvement Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Gangliosidosis, GM1 MESH:D016537 DO:DOID:3322|OMIM:230500|OMIM:230600|OMIM:230650 An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7) MESH:D005733 C10.228.140.163.100.435.825.300.400|C16.320.565.189.435.825.300.400|C16.320.565.398.641.803.350.360|C16.320.565.595.554.825.300.400|C18.452.132.100.435.825.300.400|C18.452.584.563.641.803.350.360|C18.452.648.189.435.825.300.400|C18.452.648.398.641.803.350.360|C18.452.648.595.554.825.300.400 C10.228.140.163.100.435.825.300|C16.320.565.189.435.825.300|C16.320.565.398.641.803.350|C16.320.565.595.554.825.300|C18.452.132.100.435.825.300|C18.452.584.563.641.803.350|C18.452.648.189.435.825.300|C18.452.648.398.641.803.350|C18.452.648.595.554.825.300 Adult GM1 Gangliosidosis|beta Galactosidase 1 Deficiency|beta-Galactosidase-1 Deficiency|Beta Galactosidase 1 Deficiency Disease|Beta-Galactosidase-1 Deficiency Disease|Beta-Galactosidase-1 (GLB1) Deficiency|beta Galactosidase Deficiency|beta-Galactosidase Deficiency|Beta Galactosidosis|Beta-Galactosidosis|Deficiencies, GLB1|Deficiency, beta Galactosidase|Deficiency, beta-Galactosidase|Deficiency, beta-Galactosidase-1|Deficiency, GLB1|Gangliosidosis, Adult GM1|Gangliosidosis, Generalized GM1, Adult Type|Gangliosidosis, Generalized GM1, Chronic Type|Gangliosidosis, Generalized GM1, Infantile Form|Gangliosidosis, Generalized GM1, Juvenile Type|Gangliosidosis Generalized GM1, Type 1|Gangliosidosis, Generalized GM1, Type 1|Gangliosidosis, Generalized GM1 Type 2|Gangliosidosis, Generalized GM1, Type 2|GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2 GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED|Gangliosidosis, Generalized GM1, Type 3|Gangliosidosis, Generalized GM1, Type I|Gangliosidosis, Generalized GM1, Type II|Gangliosidosis, Generalized GM1, Type III|GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED|Gangliosidosis G(M1)|Gangliosidosis GM1|Gangliosidosis GM1, Adult|Gangliosidosis GM1, Infantile|Gangliosidosis GM1, Juvenile|Gangliosidosis GM1, Type 1|Gangliosidosis GM1, Type 2|Gangliosidosis GM1 Type 3|Gangliosidosis GM1, Type 3|Generalized Gangliosidosis|GLB1 Deficiency|GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED|GM1G1|GM1G2|GM1G3|GM1-Gangliosidoses, Type I|GM1-Gangliosidoses, Type II|GM1-Gangliosidoses, Type III|GM1 Gangliosidosis|G(M1) Gangliosidosis|GM1 Gangliosidosis, Adult|GM1 Gangliosidosis, Type I|GM1-Gangliosidosis, Type I|GM1 Gangliosidosis, Type II|GM1-Gangliosidosis, Type II|GM1 Gangliosidosis, Type III|GM1-Gangliosidosis, Type III|Infantile Gangliosidosis GM1|Juvenile Gangliosidosis GM1|Type 3 (Adult) GM1 Gangliosidosis|Type I GM1-Gangliosidoses|Type I GM1-Gangliosidosis|Type II GM1-Gangliosidoses|Type II GM1-Gangliosidosis|Type III GM1-Gangliosidoses|Type III GM1-Gangliosidosis Genetic disease (inborn)|Metabolic disease|Nervous system disease Gangrene MESH:D005734 Death and putrefaction of tissue usually due to a loss of blood supply. MESH:D009336 C23.550.717.427 C23.550.717 Gangrenes Pathology (process) Gardner-Diamond syndrome MESH:C535645 MESH:D001327|MESH:D005162|MESH:D011618|MESH:D017445 C17.800.862/C535645|C20.111/C535645|F03.700.675/C535645|F03.875.375/C535645 C17.800.862|C20.111|F03.700.675|F03.875.375 Autoerythrocyte sensitization|Psychogenic purpura Immune system disease|Mental disorder|Skin disease Gardner Morrisson Abbot syndrome MESH:C535643 MESH:D000015|MESH:D013921 C15.378.140.855/C535643|C16.131.077/C535643 C15.378.140.855|C16.131.077 Thrombocytopenia multiple congenital anomaly Blood disease|Congenital abnormality Gardner Syndrome MESH:D005736 A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract. MESH:D000015|MESH:D011125 C04.557.470.035.215.100.500|C04.588.274.476.411.307.089.393|C04.700.100.392|C06.301.371.411.307.090.500|C06.405.249.411.307.090.500|C06.405.469.158.356.090.500|C06.405.469.491.307.090.500|C06.405.469.578.249.393|C16.131.077.393|C16.320.700.100.393 C04.557.470.035.215.100|C04.588.274.476.411.307.089|C04.700.100|C06.301.371.411.307.090|C06.405.249.411.307.090|C06.405.469.158.356.090|C06.405.469.491.307.090|C06.405.469.578.249|C16.131.077|C16.320.700.100 Gardner's Syndrome|Gardners Syndrome|Gardner's Syndromes|Gardner Syndromes|Syndrome, Gardner|Syndrome, Gardner's|Syndromes, Gardner|Syndromes, Gardner's Cancer|Congenital abnormality|Digestive system disease|Genetic disease (inborn) Garret Tripp syndrome MESH:C535646 MESH:D000505|MESH:D007873|MESH:D008607|MESH:D012628|MESH:D017689 C05.116.852.175.570/C535646|C05.660.585.600/C535646|C10.597.606.360/C535646|C16.131.621.585.600/C535646|C17.800.174.580/C535646|C17.800.329.937.122/C535646|C17.800.794.230/C535646|C17.800.815.580/C535646|C17.800.859.350/C535646|C23.300.035/C535646|C23.888.592.604.646/C535646|F03.625.539/C535646 C05.116.852.175.570|C05.660.585.600|C10.597.606.360|C16.131.621.585.600|C17.800.174.580|C17.800.329.937.122|C17.800.794.230|C17.800.815.580|C17.800.859.350|C23.300.035|C23.888.592.604.646|F03.625.539 Mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Gas bloat syndrome MESH:C535647 MESH:D011183 C23.550.767/C535647 C23.550.767 Post-fundoplication syndrome Pathology (process) Gas Gangrene MESH:D005738 DO:DOID:9159 A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus CLOSTRIDIUM. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases. MESH:D003015 C01.150.252.410.222.440 C01.150.252.410.222 Gangrene, Gas|Gangrenes, Gas|Gas Gangrenes Bacterial infection or mycosis Gas Poisoning MESH:D005739 Poisoning that results from exposure to gases such as CARBON MONOXIDE; NOBLE GASES; OXYGEN; or NATURAL GAS. MESH:D011041 C25.723.455 C25.723 Gas Poisonings|Poisoning, Gas|Poisonings, Gas Gastric Antral Vascular Ectasia MESH:D020252 DO:DOID:2493 A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE. MESH:D013272|MESH:D016888 C06.405.748.280|C14.907.075.280 C06.405.748|C14.907.075 Antral Vascular Ectasia|Antral Vascular Ectasias|Ectasia, Antral Vascular|Ectasias, Antral Vascular|Stomachs, Watermelon|Stomach, Watermelon|Vascular Ectasia, Antral|Vascular Ectasias, Antral|Watermelon Stomach|Watermelon Stomachs Cardiovascular disease|Digestive system disease Gastric Dilatation MESH:D013271 DO:DOID:3229 Abnormal distention of the STOMACH due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of GASTRIC OUTLET OBSTRUCTION; ILEUS; GASTROPARESIS; or denervation. MESH:D013272 C06.405.748.300 C06.405.748 Dilatation, Gastric|Dilatation, Stomach|Dilation, Gastric|Dilation, Stomach|Gastric Dilation|Stomach Dilatation|Stomach Dilation Digestive system disease Gastric Fistula MESH:D005747 Abnormal passage communicating with the STOMACH. MESH:D016154 C06.267.375|C23.300.575.185.375 C06.267|C23.300.575.185 Fistula, Gastric|Fistula, Stomach|Stomach Fistula Digestive system disease|Pathology (anatomical condition) Gastric Outlet Obstruction MESH:D017219 DO:DOID:3122 The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING. MESH:D013272 C06.405.748.340 C06.405.748 Gastric Outlet Obstructions|Obstruction, Gastric Outlet|Obstructions, Gastric Outlet|Outlet Obstruction, Gastric|Outlet Obstructions, Gastric Digestive system disease Gastric Sneezing MESH:C564990 MESH:D012912 C23.888.852.889/C564990 C23.888.852.889 Stomach Sneeze Reflex Signs and symptoms Gastric Volvulus, Intrathoracic MESH:C564989 MESH:D006551|MESH:D013277 C06.405.748.895/C564989|C23.300.707.960.500.467/C564989 C06.405.748.895|C23.300.707.960.500.467 Digestive system disease|Pathology (anatomical condition) Gastrinoma MESH:D015408 DO:DOID:5577 A GASTRIN-secreting neuroendocrine tumor of the non-beta ISLET CELLS, the GASTRIN-SECRETING CELLS. This type of tumor is primarily located in the PANCREAS or the DUODENUM. Majority of gastrinomas are malignant. They metastasize to the LIVER; LYMPH NODES; and BONE but rarely elsewhere. The presence of gastrinoma is one of three requirements to be met for identification of ZOLLINGER-ELLISON SYNDROME, which sometimes occurs in families with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; (MEN 1). MESH:D018273 C04.557.470.200.025.290.500|C04.588.274.761.500.124|C04.588.322.475.500.124|C06.301.761.500.124|C06.689.667.500.124|C19.344.421.500.124 C04.557.470.200.025.290|C04.588.274.761.500|C04.588.322.475.500|C06.301.761.500|C06.689.667.500|C19.344.421.500 Gastrinomas|Gastrin Producing Tumor|Gastrin-Producing Tumor|Gastrin-Producing Tumors|Islet Cell Tumor, Ulcerogenic|Tumor, Gastrin-Producing|Tumors, Gastrin-Producing|Ulcerogenic Islet Cell Tumor Cancer|Digestive system disease|Endocrine system disease Gastritis MESH:D005756 DO:DOID:4029 Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders. MESH:D005759|MESH:D013272 C06.405.205.697|C06.405.748.398 C06.405.205|C06.405.748 Gastritides Digestive system disease Gastritis, Atrophic MESH:D005757 DO:DOID:8929 GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis. MESH:D005756 C06.405.205.697.394|C06.405.748.398.394 C06.405.205.697|C06.405.748.398 Atrophic Gastritides|Atrophic Gastritis|Gastritides, Atrophic Digestive system disease Gastritis, Hypertrophic MESH:D005758 DO:DOID:8757 GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS. MESH:D005756 C06.405.205.697.410|C06.405.748.398.410 C06.405.205.697|C06.405.748.398 Disease, Menetrier|Disease, Menetrier's|Gastritis, Familial Giant Hypertrophic|Gastritis, Giant Hypertrophic|Giant Hypertrophic Gastritis|Hypertrophic Gastritis|Hypertrophic Gastritis, Giant|Menetrier Disease|Menetrier's Disease|Menetriers Disease Digestive system disease Gastrocutaneous syndrome MESH:C535651 MESH:D006972|MESH:D009216|MESH:D010437|MESH:D019080 C05.116.099.370.231.480/C535651|C05.660.207.231.480/C535651|C06.405.469.275.800/C535651|C06.405.748.586/C535651|C11.744.636/C535651|C16.131.621.207.231.480/C535651|C17.800.621.250/C535651|C23.888.885.250/C535651 C05.116.099.370.231.480|C05.660.207.231.480|C06.405.469.275.800|C06.405.748.586|C11.744.636|C16.131.621.207.231.480|C17.800.621.250|C23.888.885.250 Congenital abnormality|Digestive system disease|Eye disease|Musculoskeletal disease|Signs and symptoms|Skin disease Gastroenteritis MESH:D005759 DO:DOID:2326 INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER. MESH:D005767 C06.405.205 C06.405 Gastroenteritides Digestive system disease Gastroenteritis, Transmissible, of Swine MESH:D005761 A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a CORONAVIRUS. MESH:D013553|MESH:D018352 C01.925.782.600.550.200.400|C22.905.469 C01.925.782.600.550.200|C22.905 Gastroenteritides, Porcine Transmissible|Gastroenteritides, Swine Transmissible|Gastroenteritides, Transmissible Porcine|Gastroenteritis, Porcine Transmissible|Gastroenteritis, Swine Transmissible|Gastroenteritis, Transmissible Porcine|Gastroenteritis, Transmissible, Porcine|Porcine Gastroenteritides, Transmissible|Porcine Gastroenteritis, Transmissible|Porcine Transmissible Gastroenteritides|Porcine Transmissible Gastroenteritis|Swine Transmissible Gastroenteritides|Swine Transmissible Gastroenteritis|Transmissible Gastroenteritides, Porcine|Transmissible Gastroenteritides, Swine|Transmissible Gastroenteritis of Swine|Transmissible Gastroenteritis, Porcine|Transmissible Gastroenteritis, Swine|Transmissible Porcine Gastroenteritides|Transmissible Porcine Gastroenteritis Animal disease|Viral disease Gastro-enteropancreatic neuroendocrine tumor MESH:C535650 MESH:D007414|MESH:D010190|MESH:D013274|MESH:D018358 C04.557.465.625.650/C535650|C04.557.580.625.650/C535650|C04.588.274.476.411/C535650|C04.588.274.476.767/C535650|C04.588.274.761/C535650|C04.588.322.475/C535650|C06.301.371.411/C535650|C06.301.371.767/C535650|C06.301.761/C535650|C06.405.249.411/C535650|C06.405.249.767/C535650|C06.405.469.491/C535650|C06.405.748.789/C535650|C06.689.667/C535650|C19.344.421/C535650 C04.557.465.625.650|C04.557.580.625.650|C04.588.274.476.411|C04.588.274.476.767|C04.588.274.761|C04.588.322.475|C06.301.371.411|C06.301.371.767|C06.301.761|C06.405.249.411|C06.405.249.767|C06.405.469.491|C06.405.748.789|C06.689.667|C19.344.421 Gastroenteropancreatic neuroendocrine tumor|GEP neuroendocrine tumor Cancer|Digestive system disease|Endocrine system disease Gastroesophageal Reflux MESH:D005764 DO:DOID:8534|OMIM:109350 Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER. MESH:D015154 C06.405.117.119.500.484 C06.405.117.119.500 Acid Reflux, Gastric|Esophageal Reflux|Gastric Acid Reflux|Gastric Acid Reflux Disease|Gastro Esophageal Reflux|Gastro-Esophageal Reflux|Gastroesophageal Reflux Disease|Gastro Esophageal Reflux Disease|Gastro-Esophageal Reflux Disease|Gastro-Esophageal Reflux Diseases|GASTROESOPHAGEAL REFLUX, PEDIATRIC|Gastro oesophageal Reflux|Gastro-oesophageal Reflux|GER|GERD|Reflux Disease, Gastro-Esophageal|Reflux, Gastric Acid|Reflux, Gastroesophageal|Reflux, Gastro-Esophageal|Reflux, Gastro-oesophageal Digestive system disease Gastrointestinal anthrax MESH:C571911 DO:DOID:13386 MESH:D000881|MESH:D005767 C01.150.252.410.090.072/C571911|C06.405/C571911 C01.150.252.410.090.072|C06.405 Bacterial infection or mycosis|Digestive system disease Gastrointestinal Diseases MESH:D005767 Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. MESH:D004066 C06.405 C06 Cholera Infantum|Disease, Gastrointestinal|Diseases, Gastrointestinal|Functional Gastrointestinal Disorder|Functional Gastrointestinal Disorders|Gastrointestinal Disease|Gastrointestinal Disorder|Gastrointestinal Disorder, Functional|Gastrointestinal Disorders|Gastrointestinal Disorders, Functional Digestive system disease Gastrointestinal Hemorrhage MESH:D006471 Bleeding in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. MESH:D005767|MESH:D006470 C06.405.227|C23.550.414.788 C06.405|C23.550.414 Gastrointestinal Hemorrhages|Hematochezia|Hematochezias|Hemorrhage, Gastrointestinal Digestive system disease|Pathology (process) Gastrointestinal Neoplasms MESH:D005770 DO:DOID:3119 Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL. MESH:D004067|MESH:D005767 C04.588.274.476|C06.301.371|C06.405.249 C04.588.274|C06.301|C06.405 Cancer, Gastrointestinal|Cancer of Gastrointestinal Tract|Cancer of the Gastrointestinal Tract|Cancers, Gastrointestinal|Gastrointestinal Cancer|Gastrointestinal Cancers|Gastrointestinal Neoplasm|Gastrointestinal Tract Cancer|Gastrointestinal Tract Cancers|Neoplasm, Gastrointestinal|Neoplasms, Gastrointestinal Cancer|Digestive system disease Gastrointestinal Stromal Tumors MESH:D046152 DO:DOID:9253|OMIM:606764 All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA). MESH:D005770|MESH:D009372 C04.557.450.565.370|C06.301.371.308|C06.405.249.308 C04.557.450.565|C06.301.371|C06.405.249 Gastrointestinal Stromal Neoplasm|Gastrointestinal Stromal Neoplasms|Gastrointestinal Stromal Sarcoma|Gastrointestinal Stromal Tumor|GIST|Neoplasm, Gastrointestinal Stromal|Neoplasms, Gastrointestinal Stromal|Stromal Neoplasm, Gastrointestinal|Stromal Neoplasms, Gastrointestinal|Stromal Tumor, Gastrointestinal|Stromal Tumors, Gastrointestinal|Tumor, Gastrointestinal Stromal|Tumors, Gastrointestinal Stromal Cancer|Digestive system disease Gastroparesis MESH:D018589 DO:DOID:11914 Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS. MESH:D010243|MESH:D013272 C06.405.748.543|C23.888.592.636.263 C06.405.748|C23.888.592.636 Gastric Stases|Gastric Stasis|Gastropareses|Stases, Gastric|Stasis, Gastric Digestive system disease|Signs and symptoms Gastroschisis MESH:D020139 DO:DOID:11044 A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM. MESH:D009139|MESH:D046449 C05.660.417|C16.131.621.417|C23.300.707.374.500 C05.660|C16.131.621|C23.300.707.374 Congenital Fissure of the Abdominal Cavity|Gastroschises Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition) GATA2 Deficiency MESH:D000077428 DO:DOID:0111947 A rare disorder of the immune system with wide-ranging effects which include GATA2 Transcription Factor dysfunction, immunodeficiency, myelodysplastic syndrome (ineffective blood cell production), lung disease, and problems of the vascular and lymphatic system. MESH:D009190|MESH:D030342 C15.378.190.625.265|C16.320.314 C15.378.190.625|C16.320 Emberger Syndrome|GATA2 Deficiencies|GATA2 Haploinsufficiencies|GATA2 Haploinsufficiency|Immunodeficiency type 21|MonoMac Syndrome|MonoMac Syndromes|Myelodysplastic Syndrome Acute Myeloid Leukemia|Natural Killer Cell Deficiency|Primary Lymphedema with Myelodysplasia Blood disease|Genetic disease (inborn) Gaucher Disease MESH:D005776 DO:DOID:1926|OMIM:230800|OMIM:230900|OMIM:231000 An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. MESH:D013106 C10.228.140.163.100.435.825.400|C16.320.565.189.435.825.400|C16.320.565.398.641.803.441|C16.320.565.595.554.825.400|C18.452.132.100.435.825.400|C18.452.584.563.641.803.441|C18.452.648.189.435.825.400|C18.452.648.398.641.803.441|C18.452.648.595.554.825.400 C10.228.140.163.100.435.825|C16.320.565.189.435.825|C16.320.565.398.641.803|C16.320.565.595.554.825|C18.452.132.100.435.825|C18.452.584.563.641.803|C18.452.648.189.435.825|C18.452.648.398.641.803|C18.452.648.595.554.825 Acid beta-Glucosidase Deficiency|Acid beta-Glucosidase Deficiency Disease|Acute Neuronopathic Gaucher Disease|Cerebroside Lipidoses, Glucosyl|Cerebroside Lipidosis, Glucosyl|Cerebroside Lipidosis Syndrome|Cerebroside Lipidosis Syndromes|Chronic Gaucher Disease|Deficiencies, GBA|Deficiencies, Glucocerebrosidase|Deficiency Disease, Glucocerebrosidase|Deficiency Diseases, Glucocerebrosidase|Deficiency, GBA|Deficiency, Glucocerebrosidase|Disease, Chronic Gaucher|Disease, Gaucher|Disease, Gaucher's|Disease, Gauchers|Disease, Glucocerebrosidase Deficiency|Disease, Infantile Gaucher|Disease, Juvenile Gaucher|Disease, Neuronopathic Gaucher|Disease, Non-Neuronopathic Gaucher|Diseases, Gauchers|Diseases, Glucocerebrosidase Deficiency|Gaucher Disease, Acute Neuronopathic|Gaucher Disease, Acute Neuronopathic Type|Gaucher Disease, Chronic|Gaucher Disease, Chronic Neuronopathic Type|Gaucher Disease, Infantile|Gaucher Disease, Infantile Cerebral|Gaucher Disease, Juvenile|Gaucher Disease, Juvenile and Adult, Cerebral|GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL GAUCHER DISEASE, TYPE IIIA, INCLUDED|Gaucher Disease, Neuronopathic|Gaucher Disease, Noncerebral Juvenile|Gaucher Disease, Non-Neuronopathic|Gaucher Disease, Non Neuronopathic Form|Gaucher Disease, Non-Neuronopathic Form|GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED|Gaucher Disease, Subacute Neuronopathic Form|Gaucher Disease, Subacute Neuronopathic Type|Gaucher Disease Type 1|Gaucher Disease, Type 1|Gaucher Disease Type 2|Gaucher Disease, Type 2|Gaucher Disease Type 3|Gaucher Disease, Type 3|Gaucher Disease, Type I|Gaucher Disease, Type II|Gaucher Disease, Type III|GAUCHER DISEASE, TYPE IIIB, INCLUDED|Gaucher's Disease|Gauchers Disease|Gauchers Diseases|Gaucher Splenomegaly|Gaucher Syndrome|GBA Deficiencies|GBA Deficiency|GD1|GD2|GD3|GD I|GD II|GD III|Glucocerebrosidase Deficiencies|Glucocerebrosidase Deficiency|Glucocerebrosidase Deficiency Disease|Glucocerebrosidase Deficiency Diseases|Glucocerebrosidoses|Glucocerebrosidosis|Glucosylceramidase Deficiency|Glucosylceramide Beta-Glucosidase Deficiency|Glucosylceramide Beta-Glucosidase Deficiency Disease|Glucosylceramide Lipidoses|Glucosylceramide Lipidosis|Glucosyl Cerebroside Lipidoses|Glucosyl Cerebroside Lipidosis|Histiocytoses, Kerasin|Histiocytoses, Lipoid (Kerasin Type)|Histiocytosis, Kerasin|Histiocytosis, Lipoid (Kerasin Type)|Infantile Gaucher Disease|Juvenile Gaucher Disease|Kerasin Histiocytoses|Kerasin Histiocytosis|Kerasin Lipoidoses|Kerasin Lipoidosis|Kerasin thesaurismoses|Kerasin thesaurismosis|Lipidoses, Glucosylceramide|Lipidoses, Glucosyl Cerebroside|Lipidosis, Glucosylceramide|Lipidosis, Glucosyl Cerebroside|Lipidosis Syndrome, Cerebroside|Lipidosis Syndromes, Cerebroside|Lipoid Histiocytoses (Kerasin Type)|Lipoid Histiocytosis (Kerasin Type)|Lipoidoses, Kerasin|Lipoidosis, Kerasin|Neuronopathic Gaucher Disease|Non Neuronopathic Gaucher Disease|Non-Neuronopathic Gaucher Disease|Splenomegaly, Gaucher|Subacute Neuronopathic Gaucher Disease|Syndrome, Cerebroside Lipidosis|Syndrome, Gaucher|Syndromes, Cerebroside Lipidosis|thesaurismoses, Kerasin|thesaurismosis, Kerasin|Type 1 Gaucher Disease|Type 2 Gaucher Disease|Type 3 Gaucher Disease Genetic disease (inborn)|Metabolic disease|Nervous system disease Gaucher Disease, Atypical, Due To Saposin C Deficiency MESH:C566435 OMIM:610539 MESH:D005776 C10.228.140.163.100.435.825.400/C566435|C16.320.565.189.435.825.400/C566435|C16.320.565.398.641.803.441/C566435|C16.320.565.595.554.825.400/C566435|C18.452.132.100.435.825.400/C566435|C18.452.584.563.641.803.441/C566435|C18.452.648.189.435.825.400/C566435|C18.452.648.398.641.803.441/C566435|C18.452.648.595.554.825.400/C566435 C10.228.140.163.100.435.825.400|C16.320.565.189.435.825.400|C16.320.565.398.641.803.441|C16.320.565.595.554.825.400|C18.452.132.100.435.825.400|C18.452.584.563.641.803.441|C18.452.648.189.435.825.400|C18.452.648.398.641.803.441|C18.452.648.595.554.825.400 GDSAPC|SAPOSIN C DEFICIENCY Genetic disease (inborn)|Metabolic disease|Nervous system disease Gaucher Disease, Norrbottnian Type MESH:C565556 MESH:D005776 C10.228.140.163.100.435.825.400/C565556|C16.320.565.189.435.825.400/C565556|C16.320.565.398.641.803.441/C565556|C16.320.565.595.554.825.400/C565556|C18.452.132.100.435.825.400/C565556|C18.452.584.563.641.803.441/C565556|C18.452.648.189.435.825.400/C565556|C18.452.648.398.641.803.441/C565556|C18.452.648.595.554.825.400/C565556 C10.228.140.163.100.435.825.400|C16.320.565.189.435.825.400|C16.320.565.398.641.803.441|C16.320.565.595.554.825.400|C18.452.132.100.435.825.400|C18.452.584.563.641.803.441|C18.452.648.189.435.825.400|C18.452.648.398.641.803.441|C18.452.648.595.554.825.400 Genetic disease (inborn)|Metabolic disease|Nervous system disease Gaucher Disease, Perinatal Lethal MESH:C564306 OMIM:608013 MESH:D005776 C10.228.140.163.100.435.825.400/C564306|C16.320.565.189.435.825.400/C564306|C16.320.565.398.641.803.441/C564306|C16.320.565.595.554.825.400/C564306|C18.452.132.100.435.825.400/C564306|C18.452.584.563.641.803.441/C564306|C18.452.648.189.435.825.400/C564306|C18.452.648.398.641.803.441/C564306|C18.452.648.595.554.825.400/C564306 C10.228.140.163.100.435.825.400|C16.320.565.189.435.825.400|C16.320.565.398.641.803.441|C16.320.565.595.554.825.400|C18.452.132.100.435.825.400|C18.452.584.563.641.803.441|C18.452.648.189.435.825.400|C18.452.648.398.641.803.441|C18.452.648.595.554.825.400 Gaucher Disease, Collodion Type Genetic disease (inborn)|Metabolic disease|Nervous system disease Gaucher Disease, Type IIIa MESH:C565554 MESH:D005776 C10.228.140.163.100.435.825.400/C565554|C16.320.565.189.435.825.400/C565554|C16.320.565.398.641.803.441/C565554|C16.320.565.595.554.825.400/C565554|C18.452.132.100.435.825.400/C565554|C18.452.584.563.641.803.441/C565554|C18.452.648.189.435.825.400/C565554|C18.452.648.398.641.803.441/C565554|C18.452.648.595.554.825.400/C565554 C10.228.140.163.100.435.825.400|C16.320.565.189.435.825.400|C16.320.565.398.641.803.441|C16.320.565.595.554.825.400|C18.452.132.100.435.825.400|C18.452.584.563.641.803.441|C18.452.648.189.435.825.400|C18.452.648.398.641.803.441|C18.452.648.595.554.825.400 Genetic disease (inborn)|Metabolic disease|Nervous system disease Gaucher Disease, Type IIIb MESH:C565555 MESH:D005776 C10.228.140.163.100.435.825.400/C565555|C16.320.565.189.435.825.400/C565555|C16.320.565.398.641.803.441/C565555|C16.320.565.595.554.825.400/C565555|C18.452.132.100.435.825.400/C565555|C18.452.584.563.641.803.441/C565555|C18.452.648.189.435.825.400/C565555|C18.452.648.398.641.803.441/C565555|C18.452.648.595.554.825.400/C565555 C10.228.140.163.100.435.825.400|C16.320.565.189.435.825.400|C16.320.565.398.641.803.441|C16.320.565.595.554.825.400|C18.452.132.100.435.825.400|C18.452.584.563.641.803.441|C18.452.648.189.435.825.400|C18.452.648.398.641.803.441|C18.452.648.595.554.825.400 Genetic disease (inborn)|Metabolic disease|Nervous system disease Gaucher Disease, Type Iiic MESH:C565553 OMIM:231005 MESH:D005776 C10.228.140.163.100.435.825.400/C565553|C16.320.565.189.435.825.400/C565553|C16.320.565.398.641.803.441/C565553|C16.320.565.595.554.825.400/C565553|C18.452.132.100.435.825.400/C565553|C18.452.584.563.641.803.441/C565553|C18.452.648.189.435.825.400/C565553|C18.452.648.398.641.803.441/C565553|C18.452.648.595.554.825.400/C565553 C10.228.140.163.100.435.825.400|C16.320.565.189.435.825.400|C16.320.565.398.641.803.441|C16.320.565.595.554.825.400|C18.452.132.100.435.825.400|C18.452.584.563.641.803.441|C18.452.648.189.435.825.400|C18.452.648.398.641.803.441|C18.452.648.595.554.825.400 GD3C Genetic disease (inborn)|Metabolic disease|Nervous system disease Gaucher-like disease MESH:C537675 MESH:D005776 C10.228.140.163.100.435.825.400/C537675|C16.320.565.189.435.825.400/C537675|C16.320.565.398.641.803.441/C537675|C16.320.565.595.554.825.400/C537675|C18.452.132.100.435.825.400/C537675|C18.452.584.563.641.803.441/C537675|C18.452.648.189.435.825.400/C537675|C18.452.648.398.641.803.441/C537675|C18.452.648.595.554.825.400/C537675 C10.228.140.163.100.435.825.400|C16.320.565.189.435.825.400|C16.320.565.398.641.803.441|C16.320.565.595.554.825.400|C18.452.132.100.435.825.400|C18.452.584.563.641.803.441|C18.452.648.189.435.825.400|C18.452.648.398.641.803.441|C18.452.648.595.554.825.400 Pseudo Gaucher disease Genetic disease (inborn)|Metabolic disease|Nervous system disease Gay Feinmesser Cohen syndrome MESH:C537676 MESH:D006130|MESH:D006330 C14.240.400/C537676|C14.280.400/C537676|C16.131.240.400/C537676|C23.550.393/C537676 C14.240.400|C14.280.400|C16.131.240.400|C23.550.393 Laryngeal web, congenital heart disease and low stature|Subglottic bar, congenital heart disease and low stature Cardiovascular disease|Congenital abnormality|Pathology (process) gaze palsy, familial horizontal, with progressive scoliosis MESH:C564593 OMIM:607313 MESH:D000093922|MESH:D012600 C05.116.900.800.875/C564593|C10.292.562.700.375/C564593|C10.500.198/C564593|C11.590.436.400/C564593|C16.131.666.198/C564593 C05.116.900.800.875|C10.292.562.700.375|C10.500.198|C11.590.436.400|C16.131.666.198 Familial Horizontal Gaze Palsy with Progressive Scoliosis|Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy|Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze|GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1|Hgpps|HGPPS1|HGPPS, Horizontal Gaze Palsy with Progressive Scoliosis|HGPPS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS, INCLUDED|Horizontal Gaze Palsy with Progressive Scoliosis|Ophthalmoplegia, Progressive External, and Scoliosis Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease Gemignani syndrome MESH:C537678 MESH:D006319|MESH:D020336|MESH:D020754 C09.218.458.341.887/C537678|C10.228.140.252.190.530/C537678|C10.228.140.252.700.700/C537678|C10.228.854.787.875/C537678|C10.574.500.825.700/C537678|C10.597.350.090.500.530/C537678|C10.597.636.500.500/C537678|C10.597.751.418.341.887/C537678|C16.320.400.780.875/C537678|C23.888.592.643.500.500/C537678|C23.888.592.763.393.341.887/C537678 C09.218.458.341.887|C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C10.597.636.500.500|C10.597.751.418.341.887|C16.320.400.780.875|C23.888.592.643.500.500|C23.888.592.763.393.341.887 Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms GEMSS syndrome MESH:C537679 MESH:D000015|MESH:D004479|MESH:D005901|MESH:D006130|MESH:D007592 C05.550/C537679|C11.250.300/C537679|C11.510.598.373/C537679|C11.525.381/C537679|C16.131.077/C537679|C16.131.384.405/C537679|C23.550.393/C537679 C05.550|C11.250.300|C11.510.598.373|C11.525.381|C16.131.077|C16.131.384.405|C23.550.393 Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature syndrome Congenital abnormality|Eye disease|Musculoskeletal disease|Pathology (process) Gender Dysphoria MESH:D000068116 A marked difference between the individual’s expressed/experienced gender and the gender others would assign to the individual, and it must continue for at least six months. (from DSM-5) MESH:D020018 F03.835.550 F03.835 Disorder, Gender Identity|Gender Identity Disorder|Gender Identity Disorders|Identity Disorder, Gender Mental disorder Genee-Wiedemann syndrome MESH:C537680 DO:DOID:0111259|OMIM:263750 MESH:D000015|MESH:D008342|MESH:D008844|MESH:D017880 C05.116.099.370.231.576/C537680|C05.500.460.457/C537680|C05.660.207.231.576/C537680|C05.660.207.540.460.457/C537680|C05.660.585/C537680|C07.320.440.457/C537680|C07.650.500.460.457/C537680|C11.270.147.750/C537680|C16.131.077/C537680|C16.131.621.207.231.576/C537680|C16.131.621.207.540.460.457/C537680|C16.131.621.585/C537680|C16.131.850.500.460.457/C537680 C05.116.099.370.231.576|C05.500.460.457|C05.660.207.231.576|C05.660.207.540.460.457|C05.660.585|C07.320.440.457|C07.650.500.460.457|C11.270.147.750|C16.131.077|C16.131.621.207.231.576|C16.131.621.207.540.460.457|C16.131.621.585|C16.131.850.500.460.457 Genee-Wiedemann acrofacial dysostosis|GENEE-WIEDEMANN SYNDROME|Miller syndrome|POADS|POADS syndrome|Postaxial Acrofacial Dysostosis|Postaxial Acrofacial Dysostosis (POADS)|Postaxial acrofacial dysostosis (POADS) syndrome|Wildervanck-Smith syndrome Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease general anxiety disorder MESH:C000726808 MESH:D001008 F03.080/C000726808 F03.080 overanxious disorder Mental disorder Generalized elastolysis MESH:C531660 MESH:D003483 C16.320.850.180/C531660|C17.300.230/C531660|C17.800.827.180/C531660 C16.320.850.180|C17.300.230|C17.800.827.180 Connective tissue disease|Genetic disease (inborn)|Skin disease Generalized Epilepsy and Paroxysmal Dyskinesia MESH:C563719 OMIM:609446 MESH:D002819|MESH:D004829 C10.228.140.490.375/C563719|C10.228.662.262.249/C563719|C10.597.350.250/C563719|C23.888.592.350.250/C563719 C10.228.140.490.375|C10.228.662.262.249|C10.597.350.250|C23.888.592.350.250 Epilepsy, Generalized, with Paroxysmal Dyskinesia|GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA|GEPD|PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY|PNKD3 Nervous system disease|Signs and symptoms Generalized Epilepsy with Febrile Seizures Plus MESH:C565808 DO:DOID:0060170 MESH:D003294|MESH:D004829 C10.228.140.490.375/C565808|C10.597.742.571/C565808|C23.888.592.742.571/C565808 C10.228.140.490.375|C10.597.742.571|C23.888.592.742.571 Nervous system disease|Signs and symptoms Generalized Epilepsy With Febrile Seizures Plus, 7 MESH:C567827 DO:DOID:0111295 MESH:D003294|MESH:D004829 C10.228.140.490.375/C567827|C10.597.742.571/C567827|C23.888.592.742.571/C567827 C10.228.140.490.375|C10.597.742.571|C23.888.592.742.571 GEFSP7|Generalized Epilepsy With Febrile Seizures Plus, Type 7 Nervous system disease|Signs and symptoms Generalized Epilepsy With Febrile Seizures Plus, Type 1 MESH:C565809 OMIM:604233 MESH:D003294|MESH:D004829 C10.228.140.490.375/C565809|C10.597.742.571/C565809|C23.888.592.742.571/C565809 C10.228.140.490.375|C10.597.742.571|C23.888.592.742.571 GEFS+1|GEFSP1|GEFS, Type 1|GEFS+, TYPE 1 Nervous system disease|Signs and symptoms Generalized Epilepsy With Febrile Seizures Plus, Type 2 MESH:C565810 OMIM:604403 MESH:D003294|MESH:D004829 C10.228.140.490.375/C565810|C10.597.742.571/C565810|C23.888.592.742.571/C565810 C10.228.140.490.375|C10.597.742.571|C23.888.592.742.571 FEB3A, INCLUDED|GEFSP2|GEFS, Type 2|GEFS+, TYPE 2;GEFS+2 FEBRILE SEIZURES, FAMILIAL, 3A, INCLUDED Nervous system disease|Signs and symptoms Generalized Epilepsy With Febrile Seizures Plus, Type 3 MESH:C565811 MESH:D003294|MESH:D004829 C10.228.140.490.375/C565811|C10.597.742.571/C565811|C23.888.592.742.571/C565811 C10.228.140.490.375|C10.597.742.571|C23.888.592.742.571 GEFSP3|GEFS, Type 3 Nervous system disease|Signs and symptoms Generalized Epilepsy With Febrile Seizures Plus, Type 4 MESH:C565227 OMIM:609800 MESH:D003294|MESH:D004829 C10.228.140.490.375/C565227|C10.597.742.571/C565227|C23.888.592.742.571/C565227 C10.228.140.490.375|C10.597.742.571|C23.888.592.742.571 GEFS+4|GEFSP4|GEFSP, Type 4|GEFS+, TYPE 4 Nervous system disease|Signs and symptoms Generalized Epilepsy With Febrile Seizures Plus, Type 5 MESH:C565812 MESH:D003294|MESH:D004829 C10.228.140.490.375/C565812|C10.597.742.571/C565812|C23.888.592.742.571/C565812 C10.228.140.490.375|C10.597.742.571|C23.888.592.742.571 GEFSP5|GEFS, Type 5 Nervous system disease|Signs and symptoms Generalized Epilepsy With Febrile Seizures Plus, Type 6 MESH:C567371 OMIM:612279 MESH:D003294|MESH:D004829 C10.228.140.490.375/C567371|C10.597.742.571/C567371|C23.888.592.742.571/C567371 C10.228.140.490.375|C10.597.742.571|C23.888.592.742.571 GEFS+6|GEFSP6|GEFS, Type 6|GEFS+, TYPE 6 Nervous system disease|Signs and symptoms GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7 OMIM:613863 DO:DOID:0111295 MESH:D003294|MESH:D004829 C10.228.140.490.375/613863|C10.597.742.571/613863|C23.888.592.742.571/613863 C10.228.140.490.375|C10.597.742.571|C23.888.592.742.571 FEB3B, INCLUDED|GEFSP7|GEFS+, TYPE 7;GEFS+7 FEBRILE SEIZURES, FAMILIAL, 3B, INCLUDED Nervous system disease|Signs and symptoms GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8 OMIM:613828 DO:DOID:0111299 MESH:D003294|MESH:D004829 C10.228.140.490.375/613828|C10.597.742.571/613828|C23.888.592.742.571/613828 C10.228.140.490.375|C10.597.742.571|C23.888.592.742.571 GEFS+8|GEFSP8|GEFS+, TYPE 8 Nervous system disease|Signs and symptoms GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 OMIM:616172 DO:DOID:0111301 MESH:D003294|MESH:D004829 C10.228.140.490.375/616172|C10.597.742.571/616172|C23.888.592.742.571/616172 C10.228.140.490.375|C10.597.742.571|C23.888.592.742.571 GEFS+9|GEFSP9|GEFS+, TYPE 9 Nervous system disease|Signs and symptoms Genetic Diseases, Inborn MESH:D030342 DO:DOID:630 Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. MESH:D009358 C16.320 C16 Defect, Single-Gene|Defects, Single-Gene|Disease, Genetic|Disease, Hereditary|Disease, Inborn Genetic|Diseases, Genetic|Diseases, Hereditary|Diseases, Inborn Genetic|Disorder, Genetic|Disorders, Genetic|Genetic Disease|Genetic Disease, Inborn|Genetic Diseases|Genetic Disorder|Genetic Disorders|Hereditary Disease|Hereditary Diseases|Inborn Genetic Disease|Inborn Genetic Diseases|Single-Gene Defect|Single Gene Defects|Single-Gene Defects Genetic disease (inborn) Genetic Diseases, X-Linked MESH:D040181 Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. MESH:D030342 C16.320.322 C16.320 Diseases, X-Linked Genetic|Disease, X-Linked Genetic|Genetic Diseases, X Chromosome Linked|Genetic Diseases, X-Chromosome Linked|Genetic Diseases, X Linked|Genetic Disease, X-Linked|X-Linked Genetic Disease|X Linked Genetic Diseases|X-Linked Genetic Diseases Genetic disease (inborn) Genetic Diseases, Y-Linked MESH:D050174 Genetic diseases that are linked to mutant ALLELES on the Y CHROMOSOME in humans (Y CHROMOSOME, HUMAN) or the Y chromosome in other species. Included here are animal models of human Y-linked diseases. MESH:D030342 C16.320.338 C16.320 Diseases, Y-Linked Genetic|Disease, Y-Linked Genetic|Genetic Diseases, Y Chromosome Linked|Genetic Diseases, Y-Chromosome Linked|Genetic Diseases, Y Linked|Genetic Disease, Y-Linked|Y-Linked Genetic Disease|Y Linked Genetic Diseases|Y-Linked Genetic Diseases Genetic disease (inborn) Genetic Predisposition to Disease MESH:D020022 A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. MESH:D004198 C23.550.291.687.500 C23.550.291.687 Genetic Predisposition|Genetic Predispositions|Genetic Susceptibilities|Genetic Susceptibility|Predisposition, Genetic|Predispositions, Genetic|Susceptibilities, Genetic|Susceptibility, Genetic Pathology (process) Geniospasm MESH:C537682 OMIM:190100 MESH:D007571|MESH:D014202 C05.500/C537682|C07.320/C537682|C10.597.350.850/C537682|C23.888.592.350.850/C537682 C05.500|C07.320|C10.597.350.850|C23.888.592.350.850 Geniospasm 1|GSM1|Hereditary geniospasm|Trembling chin Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Genital Diseases MESH:D000091662 Pathological processes involving the reproductive tract (GENITALIA). MESH:D000091642 C12.100 C12 Disease, Genital|Diseases, Genital|Genital Disease Genital Diseases, Female MESH:D005831 DO:DOID:229 Pathological processes involving the female reproductive tract (GENITALIA, FEMALE). MESH:D000091662|MESH:D052776 C12.050.351.500|C12.100.250 C12.050.351|C12.100 Diseases, Female Genital|Diseases, Gynecologic|Female Genital Disease|Female Genital Diseases|Genital Disease, Female|Gynecologic Disease|Gynecologic Diseases Urogenital disease (female) Genital Diseases, Male MESH:D005832 DO:DOID:48 Pathological processes involving the male reproductive tract (GENITALIA, MALE). MESH:D000091662|MESH:D052801 C12.100.500|C12.200.294 C12.100|C12.200 Disease, Male Genital|Diseases, Male Genital|Genital Disease, Male|Male Genital Disease|Male Genital Diseases Urogenital disease (male) Genital Neoplasms, Female MESH:D005833 DO:DOID:120 Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE). MESH:D005831|MESH:D014565 C04.588.945.418|C12.050.351.500.242|C12.050.351.937.418|C12.100.250.242|C12.900.418 C04.588.945|C12.050.351.500|C12.050.351.937|C12.100.250|C12.900 Female Genital Neoplasm|Female Genital Neoplasms|Genital Neoplasm, Female|Gynecologic Neoplasm|Gynecologic Neoplasms|Neoplasm, Female Genital|Neoplasm, Gynecologic|Neoplasms, Female Genital|Neoplasms, Gynecologic Cancer|Urogenital disease (female) Genital Neoplasms, Male MESH:D005834 DO:DOID:3856 Tumor or cancer of the MALE GENITALIA. MESH:D005832|MESH:D014565 C04.588.945.440|C12.100.500.260|C12.200.294.260|C12.200.758.409|C12.900.619 C04.588.945|C12.100.500|C12.200.294|C12.200.758|C12.900 Genital Neoplasm, Male|Male Genital Neoplasm|Male Genital Neoplasms|Neoplasm, Male Genital|Neoplasms, Male Genital Cancer|Urogenital disease (male) Genito palato cardiac syndrome MESH:C537683 MESH:D002972|MESH:D006061|MESH:D006330|MESH:D008844 C05.500.460.185/C537683|C05.500.460.457/C537683|C05.660.207.540.460.185/C537683|C05.660.207.540.460.457/C537683|C07.320.440.185/C537683|C07.320.440.457/C537683|C07.465.525.185/C537683|C07.650.500.460.185/C537683|C07.650.500.460.457/C537683|C07.650.525.185/C537683|C12.050.351.875.253.096.687/C537683|C12.050.351.875.253.309.388/C537683|C12.200.706.316.096.687/C537683|C12.200.706.316.309.388/C537683|C12.800.316.096.687/C537683|C12.800.316.309.388/C537683|C14.240.400/C537683|C14.280.400/C537683|C16.131.240.400/C537683|C16.131.621.207.540.460.185/C537683|C16.131.621.207.540.460.457/C537683|C16.131.850.500.460.185/C537683|C16.131.850.500.460.457/C537683|C16.131.850.525.185/C537683|C16.131.939.316.096.687/C537683|C16.131.939.316.309.388/C537683|C19.391.119.096.687/C537683|C19.391.119.309.388/C537683 C05.500.460.185|C05.500.460.457|C05.660.207.540.460.185|C05.660.207.540.460.457|C07.320.440.185|C07.320.440.457|C07.465.525.185|C07.650.500.460.185|C07.650.500.460.457|C07.650.525.185|C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.540.460.185|C16.131.621.207.540.460.457|C16.131.850.500.460.185|C16.131.850.500.460.457|C16.131.850.525.185|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 Gardner-Silengo-Wachtel syndrome|Genito-palato-cardiac syndrome|Genitopalatocardiac syndrome|Male pseudohermaphroditism with micrognathia, cleft palate and conotruncal cardiac defect Cardiovascular disease|Congenital abnormality|Endocrine system disease|Mouth disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Genitopatellar Syndrome MESH:C565255 OMIM:606170 MESH:D008607|MESH:D011596|MESH:D014564|MESH:D019465 C05.660.207/C565255|C10.597.606.360/C565255|C10.597.606.881/C565255|C12.050.351.875/C565255|C12.200.706/C565255|C12.800/C565255|C16.131.621.207/C565255|C16.131.939/C565255|C23.888.592.604.646/C565255|C23.888.592.604.882/C565255|F03.625.539/C565255 C05.660.207|C10.597.606.360|C10.597.606.881|C12.050.351.875|C12.200.706|C12.800|C16.131.621.207|C16.131.939|C23.888.592.604.646|C23.888.592.604.882|F03.625.539 Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation|GTPTS Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Genitourinary Tract Anomalies MESH:C564424 MESH:D014564 C12.050.351.875/C564424|C12.200.706/C564424|C12.800/C564424|C16.131.939/C564424 C12.050.351.875|C12.200.706|C12.800|C16.131.939 Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Genoa syndrome MESH:C537684 MESH:D003398|MESH:D016142 C05.116.099.370.894.232/C537684|C05.660.207.240/C537684|C05.660.207.410/C537684|C05.660.906.364/C537684|C10.500.034.875/C537684|C16.131.077.410/C537684|C16.131.260.380/C537684|C16.131.621.207.240/C537684|C16.131.621.207.410/C537684|C16.131.621.906.364/C537684|C16.131.666.034.875/C537684|C16.320.180.380/C537684 C05.116.099.370.894.232|C05.660.207.240|C05.660.207.410|C05.660.906.364|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.240|C16.131.621.207.410|C16.131.621.906.364|C16.131.666.034.875|C16.320.180.380 Camera Lituania Cohen syndrome|Holoprosencephaly craniosynostosis|Holoprosencephaly, Semilobar, With Craniosynostosis|Semilobar holoprosencephaly and primary craniosynostosis Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Genochondromatosis MESH:C563215 MESH:D001859|MESH:D009386|MESH:D018210 C04.557.450.565.265.270/C563215|C04.588.149/C563215|C04.700/C563215|C05.116.231/C563215|C16.320.700/C563215 C04.557.450.565.265.270|C04.588.149|C04.700|C05.116.231|C16.320.700 Cancer|Genetic disease (inborn)|Musculoskeletal disease Genomic Instability MESH:D042822 An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional. MESH:D010335 C23.550.362 C23.550 Genome Instabilities|Genome Instability|Genome Stabilities|Genome Stability|Genomic Instabilities|Genomic Stabilities|Genomic Stability|Instabilities, Genome|Instabilities, Genomic|Instability, Genome|Instability, Genomic|Stabilities, Genome|Stabilities, Genomic|Stability, Genome|Stability, Genomic Pathology (process) Genu Valgum MESH:D056304 An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING). MESH:D001847 C05.116.482 C05.116 Genu Valga|Genu Valgas|Genu Valgums|Knees, Knock|Knock Knee|Knock Knees|Valga, Genu|Valgas, Genu Musculoskeletal disease Genu valgum, st Helena familial MESH:C537685 MESH:D056304 C05.116.482/C537685 C05.116.482 Genu valgum, hereditary pubertal|Genu Valgum, St. Helena Familial|Hereditary pubertal genu valgum|St. Helena familial genu valgum Musculoskeletal disease Genu Varum MESH:D056305 An outward slant of the thigh in which the knees are wide apart and the ankles close together. Genu varum can develop due to skeletal and joint dysplasia (e.g., OSTEOARTHRITIS; Blount's disease); and malnutrition (e.g., RICKETS; FLUORIDE POISONING). MESH:D001847 C05.116.511 C05.116 Bow Leg|Bow Legs|Genu Varus|Leg, Bow|Legs, Bow Musculoskeletal disease Geographic Atrophy MESH:D057092 A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates. MESH:D008268 C11.768.585.439.122 C11.768.585.439 Atrophies, Geographic|Atrophy, Geographic|Degeneration, Dry Macular|Degenerations, Dry Macular|Dry Macular Degeneration|Dry Macular Degenerations|Geographic Atrophies|Macular Degeneration, Dry|Macular Degenerations, Dry Eye disease Geographic Tongue and Fissured Tongue MESH:C564239 MESH:D014063 C07.465.910.708/C564239 C07.465.910.708 Mouth disease Geotrichosis MESH:D005847 DO:DOID:2832 Infection due to the fungus Geotrichum. MESH:D009181 C01.150.703.392 C01.150.703 Geotrichoses Bacterial infection or mycosis German Syndrome MESH:C562543 MESH:D001176|MESH:D008209|MESH:D009123|MESH:D018476 C05.550.150/C562543|C05.651.102/C562543|C05.660.077/C562543|C10.597.350.400/C562543|C10.597.613.575/C562543|C15.604.496/C562543|C16.131.621.077/C562543|C23.888.592.350.400/C562543|C23.888.592.608.575/C562543 C05.550.150|C05.651.102|C05.660.077|C10.597.350.400|C10.597.613.575|C15.604.496|C16.131.621.077|C23.888.592.350.400|C23.888.592.608.575 Congenital abnormality|Lymphatic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Germinoma MESH:D018237 DO:DOID:3304 A malignant neoplasm of the germinal tissue of the GONADS; MEDIASTINUM; or pineal region. Germinomas are uniform in appearance, consisting of large, round cells with vesicular nuclei and clear or finely granular eosinophilic-staining cytoplasm. (Stedman, 265th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1642-3) MESH:D009373 C04.557.465.330 C04.557.465 Germinomas Cancer Gerodermia osteodysplastica MESH:C537799 DO:DOID:0111266|OMIM:231070 MESH:D001847|MESH:D004392|MESH:D012873 C05.116.099.343/C537799|C05.116/C537799|C16.320.240/C537799|C16.320.850/C537799|C17.800.827/C537799|C19.297/C537799 C05.116|C05.116.099.343|C16.320.240|C16.320.850|C17.800.827|C19.297 Geroderma osteodysplastica|Geroderma osteodysplastica hereditaria|Geroderma Osteodysplasticum|GERODERMIA OSTEODYSPLASTICA|GO|Walt Disney dwarfism Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Gerstmann-Straussler-Scheinker Disease MESH:D016098 DO:DOID:4249|OMIM:137440 An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75) MESH:D017096|MESH:D020271 C01.207.800.350|C10.228.228.800.350|C10.574.500.425|C10.574.843.400|C16.320.400.350 C01.207.800|C10.228.228.800|C10.574.500|C10.574.843|C16.320.400 AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY|CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS|Disease, Gerstmann-Straussler|Diseases, Gerstmann-Straussler|Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type|Gerstmann Straussler Disease|Gerstmann-Straussler Disease|Gerstmann-Straussler Diseases|Gerstmann Straussler Inherited Spongiform Encephalopathy|Gerstmann-Straussler Inherited Spongiform Encephalopathy|Gerstmann Straussler Scheinker Disease|GERSTMANN-STRAUSSLER-SCHEINKER DISEASE|Gerstmann Straussler Scheinker Syndrome|Gerstmann-Straussler-Scheinker Syndrome|Gerstmann Straussler Syndrome|Gerstmann-Straussler Syndrome|GSD|GSS|Inherited Spongiform Encephalopathy, Gerstmann Straussler|Inherited Spongiform Encephalopathy, Gerstmann-Straussler|PRION DEMENTIA CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED Genetic disease (inborn)|Nervous system disease Gerstmann Syndrome MESH:D005862 DO:DOID:4969 A disorder of cognition characterized by the tetrad of finger agnosia, dysgraphia, DYSCALCULIA, and right-left disorientation. The syndrome may be developmental or acquired. Acquired Gerstmann syndrome is associated with lesions in the dominant (usually left) PARIETAL LOBE which involve the angular gyrus or subjacent white matter. (From Adams et al., Principles of Neurology, 6th ed, p457) MESH:D000377 C10.597.606.762.100.300|C23.888.592.604.764.100.300 C10.597.606.762.100|C23.888.592.604.764.100 Acquired Gerstmann's Syndrome|Acquired Gerstmann Syndrome|de Gerstmann, Syndrome|Developmental Gerstmann's Syndrome|Developmental Gerstmanns Syndrome|Developmental Gerstmann Syndrome|Finger-Agnosia-Left-Right-Confusion-Acalculia-Agraphia|Finger-Agnosia-Left-Right-Confusion-Acalculia-Agraphias|Gerstmann Badal Syndrome|Gerstmann-Badal Syndrome|Gerstmann's Syndrome|Gerstmann's Syndrome, Acquired|Gerstmann's Syndrome, Developmental|Gerstmann Syndrome 2|Gerstmann Syndrome, Acquired|Gerstmann, Syndrome de|Gerstmann Syndrome, Developmental|Syndrome, Acquired Gerstmann|Syndrome, Acquired Gerstmann's|Syndrome de Gerstmann|Syndrome, Developmental Gerstmann|Syndrome, Gerstmann|Syndrome, Gerstmann-Badal Nervous system disease|Signs and symptoms Gestational Diabetes Insipidus MESH:C548014 DO:DOID:0081057 MESH:D003919 C12.050.351.968.419.135/C548014|C12.200.777.419.135/C548014|C12.950.419.135/C548014|C19.700.159/C548014 C12.050.351.968.419.135|C12.200.777.419.135|C12.950.419.135|C19.700.159 Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Gestational Trophoblastic Disease MESH:D031901 DO:DOID:3590 A group of diseases arising from pregnancy that are commonly associated with hyperplasia of trophoblasts (TROPHOBLAST) and markedly elevated human CHORIONIC GONADOTROPIN. They include HYDATIDIFORM MOLE, invasive mole (HYDATIDIFORM MOLE, INVASIVE), placental-site trophoblastic tumor (TROPHOBLASTIC TUMOR, PLACENTAL SITE), and CHORIOCARCINOMA. These neoplasms have varying propensities for invasion and spread. MESH:D014328 C04.557.465.955.416|C04.850.908.416|C12.050.703.720.949.416 C04.557.465.955|C04.850.908|C12.050.703.720.949 Disease, Gestational Trophoblastic|Diseases, Gestational Trophoblastic|Gestational Trophoblastic Diseases|Gestational Trophoblastic Neoplasia|Gestational Trophoblastic Neoplasm|Gestational Trophoblastic Neoplasms|Neoplasia, Gestational Trophoblastic|Neoplasm, Gestational Trophoblastic|Neoplasms, Gestational Trophoblastic|Trophoblastic Disease, Gestational|Trophoblastic Diseases, Gestational|Trophoblastic Neoplasia, Gestational|Trophoblastic Neoplasm, Gestational|Trophoblastic Neoplasms, Gestational Cancer|Pregnancy complication Gestational Weight Gain MESH:D000078064 Increase in body weight of the mother during the course of her PREGNANCY. MESH:D015430 C23.888.144.243.926.500 C23.888.144.243.926 Maternal Weight Gain|Postpartum Weight Retention|Pregnancy Weight Gain|Weight Gain, Gestational|Weight Gain, Maternal|Weight Gain, Pregnancy|Weight Retention, Postpartum Signs and symptoms Ghosal Hematodiaphyseal Dysplasia MESH:C565551 OMIM:231095 MESH:D000753|MESH:D010009 C05.116.099.708/C565551|C15.378.071.400/C565551|C15.378.190.625.062/C565551|C16.320.728/C565551 C05.116.099.708|C15.378.071.400|C15.378.190.625.062|C16.320.728 GHDD|Ghosal Syndrome Blood disease|Genetic disease (inborn)|Musculoskeletal disease Ghose Sachdev Kumar syndrome MESH:C537803 MESH:D005901|MESH:D008850|MESH:D058499 C11.250.566/C537803|C11.525.381/C537803|C11.768.585.658/C537803|C16.131.384.666/C537803 C11.250.566|C11.525.381|C11.768.585.658|C16.131.384.666 Congenital abnormality|Eye disease Giacheti Syndrome MESH:C567864 MESH:D007806|MESH:D007859|MESH:D019066 C10.597.606.150.500/C567864|C10.597.606.150.550/C567864|C23.550.291.812/C567864|C23.888.592.604.150.500/C567864|C23.888.592.604.150.550/C567864|F03.625.562/C567864 C10.597.606.150.500|C10.597.606.150.550|C23.550.291.812|C23.888.592.604.150.500|C23.888.592.604.150.550|F03.625.562 Marfanoid Habitus and Specific Language and Learning Disabilities Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Giant Axonal Neuropathy MESH:D056768 DO:DOID:0090068|OMIM:256850 Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS). MESH:D010523|MESH:D015417 C10.500.300.490|C10.574.500.495.490|C10.668.829.325|C10.668.829.800.300.490|C16.131.666.300.490|C16.320.400.375.490 C10.500.300|C10.574.500.495|C10.668.829|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 Axonal Neuropathy, Giant|Axonal Neuropathy, Giant (GAN)|GAN|GAN1|Giant Axonal Neuropathy 1|GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE|Giant Axonal Neuropathy 1 (GAN1)|Giant Axonal Neuropathy (GAN)|Neuropathy, Giant Axonal|Neuropathy, Giant Axonal, Autosomal Recessive|Neuropathy, Giant Axonal (GAN) Congenital abnormality|Genetic disease (inborn)|Nervous system disease Giant Axonal Neuropathy, Autosomal Dominant MESH:C566444 OMIM:610100 MESH:D056768 C10.500.300.490/C566444|C10.574.500.495.490/C566444|C10.668.829.325/C566444|C10.668.829.800.300.490/C566444|C16.131.666.300.490/C566444|C16.320.400.375.490/C566444 C10.500.300.490|C10.574.500.495.490|C10.668.829.325|C10.668.829.800.300.490|C16.131.666.300.490|C16.320.400.375.490 GAN2|GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT Congenital abnormality|Genetic disease (inborn)|Nervous system disease Giant Cell Arteritis MESH:D013700 DO:DOID:13375 A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed) MESH:D001167|MESH:D017445|MESH:D020293 C10.114.875.700|C10.228.140.300.850.500|C14.907.253.946.700|C14.907.940.090.530|C14.907.940.907.700|C17.800.862.252|C20.111.258.962.800 C10.114.875|C10.228.140.300.850|C14.907.253.946|C14.907.940.090|C14.907.940.907|C17.800.862|C20.111.258.962 Aortic Arteritis, Giant Cell|Aortitides, Giant Cell|Aortitis, Giant Cell|Arteritides, Cranial|Arteritides, Giant Cell|Arteritides, Juvenile Temporal|Arteritides, Temporal|Arteritis, Cranial|Arteritis, Giant Cell|Arteritis, Giant Cell, Horton|Arteritis, Giant Cell, Horton's|Arteritis, Juvenile Temporal|Arteritis, Temporal|Cranial Arteritides|Cranial Arteritis|Giant Cell Aortic Arteritis|Giant Cell Aortitides|Giant Cell Aortitis|Giant Cell Aortitis, Horton's|Giant Cell Arteritides|Giant Cell Arteritis, Horton|Horton Disease|Horton Giant Cell Arteritis|Horton's Disease|Hortons Disease|Horton's Giant Cell Arteritis|Juvenile Temporal Arteritides|Juvenile Temporal Arteritis|Temporal Arteritides|Temporal Arteritides, Juvenile|Temporal Arteritis|Temporal Arteritis, Juvenile Cardiovascular disease|Immune system disease|Nervous system disease|Skin disease Giant Cell Tumor of Bone MESH:D018212 DO:DOID:4305 A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. The tumors range from benign to frankly malignant lesions. The tumor occurs most frequently in an end of a long tubular bone in young adults. (From Dorland, 27th ed; Stedman, 25th ed) MESH:D005870|MESH:D018213 C04.557.450.565.380.380|C04.557.450.565.575.420 C04.557.450.565.380|C04.557.450.565.575 Cancer Giant Cell Tumor of Tendon Sheath MESH:D000070779 DO:DOID:2701|DO:DOID:314 A tumor arising in the SYNOVIAL MEMBRANE; SYNOVIAL BURSA; or TENDON sheath. It is characterized by OSTEOCLAST-like GIANT CELLS; FOAM CELLS; pigmented HEMOSIDERIN-laden MACROPHAGES and inflammatory infiltrate. It is classified either as diffuse or localized tenosynovitis. MESH:D005870|MESH:D013585|MESH:D052256 C04.557.450.565.380.690|C05.550.870.445|C05.651.869.762 C04.557.450.565.380|C05.550.870|C05.651.869 Fibrous Histiocytoma of Tendon Sheath|Localized Giant Cell Tumor of the Tendon Sheath|Localized Nodular Tenosynovitides|Localized Nodular Tenosynovitis|Localized Pigmented Villonodular Synovitis|Nodular Tenosynovitides|Nodular Tenosynovitides, Localized|Nodular Tenosynovitis|Nodular Tenosynovitis, Localized|Tenosynovial Giant Cell Tumor|Tenosynovitides, Localized Nodular|Tenosynovitides, Nodular|Tenosynovitis, Localized Nodular|Tenosynovitis, Nodular Cancer|Musculoskeletal disease Giant Cell Tumors MESH:D005870 DO:DOID:200 Tumors of bone tissue or synovial or other soft tissue characterized by the presence of giant cells. The most common are giant cell tumor of tendon sheath and GIANT CELL TUMOR OF BONE. MESH:D009372 C04.557.450.565.380 C04.557.450.565 Cell Tumor, Giant|Cell Tumors, Giant|Giant Cell Tumor|Tumor, Giant Cell|Tumors, Giant Cell Cancer Giant mammary hamartoma MESH:C536818 MESH:D006222 C04.445/C536818 C04.445 Giant hamartoma of the breast Cancer Giant Platelet Syndrome with Thrombocytopenia MESH:C564237 MESH:D013921 C15.378.140.855/C564237 C15.378.140.855 Blood disease Giardiasis MESH:D005873 DO:DOID:10718 An infection of the SMALL INTESTINE caused by the flagellated protozoan GIARDIA. It is spread via contaminated food and water and by direct person-to-person contact. MESH:D007411|MESH:D011528 C01.610.432.481|C01.610.752.400|C06.405.469.452.481 C01.610.432|C01.610.752|C06.405.469.452 Giardia duodenalis Infection|Giardia duodenalis Infections|Giardia Infection|Giardia Infections|Giardia intestinalis Infection|Giardia intestinalis Infections|Giardia lamblia Infection|Giardia lamblia Infections|Giardiases|Infection, Giardia|Infection, Giardia duodenalis|Infection, Giardia intestinalis|Infection, Giardia lamblia|Infections, Giardia|Infections, Giardia duodenalis|Infections, Giardia intestinalis|Infections, Giardia lamblia|Lambliases|Lambliasis Digestive system disease|Parasitic disease Gigantiform Cementoma, Familial MESH:C563017 MESH:D002485|MESH:D007573 C04.557.695.210/C563017|C04.588.149.721.450/C563017|C05.116.231.754.450/C563017|C05.500.499/C563017|C07.320.515/C563017 C04.557.695.210|C04.588.149.721.450|C05.116.231.754.450|C05.500.499|C07.320.515 Cemental Dysplasia, Periapical|Cementomas, Familial Multiple Cancer|Mouth disease|Musculoskeletal disease Gigantism MESH:D005877 The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age. MESH:D001848|MESH:D001849|MESH:D006964 C05.116.099.492|C05.116.132.479|C19.700.355.528 C05.116.099|C05.116.132|C19.700.355 Gigantism, Pituitary|Pituitary Gigantism Endocrine system disease|Musculoskeletal disease Gigantomastia MESH:C536821 MESH:D006984 C23.300.775/C536821 C23.300.775 Gestational gigantomastia|Gigantomastia, Juvenile|Hypertrophy of the Breast, Juvenile|Juvenile gigantomastia|Macromastia Pathology (anatomical condition) Gilbert Disease MESH:D005878 DO:DOID:2739|OMIM:143500 A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level. MESH:D006933 C16.320.565.300.528|C18.452.648.300.528 C16.320.565.300|C18.452.648.300 Arias Type Hyperbilirubinemia|Arias Type Hyperbilirubinemias|Constitutional Liver Dysfunction|Disease, Gilbert|Disease, Gilbert's|Familial Nonhemolytic Jaundice|Gilbert-Lereboullet Syndrome|Gilbert's Disease|Gilberts Disease|Gilbert's Syndrome|Gilberts Syndrome|Gilbert Syndrome|HBLRG|Hyperbilirubinemia 1|Hyperbilirubinemia 1s|Hyperbilirubinemia, Arias Type|HYPERBILIRUBINEMIA, GILBERT TYPE|Hyperbilirubinemia I|Hyperbilirubinemias, Arias Type|Meulengracht Syndrome|Syndrome, Gilbert|Syndrome, Gilbert's|Unconjugated Benign Bilirubinemia Genetic disease (inborn)|Metabolic disease Gingival Diseases MESH:D005882 DO:DOID:1483|DO:DOID:5337 Diseases involving the GINGIVA. MESH:D010510 C07.465.714.258 C07.465.714 Disease, Gingival|Diseases, Gingival|Epulides|Epulis|Gingival Disease|Gingivoses|Gingivosis Mouth disease Gingival Hemorrhage MESH:D005884 The flowing of blood from the marginal gingival area, particularly the sulcus, seen in such conditions as GINGIVITIS, marginal PERIODONTITIS, injury, and ASCORBIC ACID DEFICIENCY. MESH:D005882|MESH:D006472 C07.465.625.446|C07.465.714.258.250|C23.550.414.922.500 C07.465.625|C07.465.714.258|C23.550.414.922 Gingival Hemorrhages|Hemorrhage, Gingival Mouth disease|Pathology (process) Gingival Hyperplasia MESH:D005885 Non-inflammatory enlargement of the gingivae produced by factors other than local irritation. It is characteristically due to an increase in the number of cells. (From Jablonski's Dictionary of Dentistry, 1992, p400) MESH:D019214 C07.465.714.258.428.250 C07.465.714.258.428 Gingival Hyperplasias|Hyperplasia, Gingival|Hyperplasias, Gingival Mouth disease Gingival Hypertrophy MESH:D005886 DO:DOID:5338 Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells. MESH:D019214 C07.465.714.258.428.260 C07.465.714.258.428 Gingival Hypertrophies|Hypertrophies, Gingival|Hypertrophy, Gingival Mouth disease Gingival Neoplasms MESH:D005887 DO:DOID:7280 New abnormal growth of tissue in the GINGIVA. MESH:D005882|MESH:D009062 C04.588.443.591.402|C07.465.530.402|C07.465.714.258.409 C04.588.443.591|C07.465.530|C07.465.714.258 Congenital Epulides|Congenital Epulis|Epulides, Congenital|Epulis, Congenital|Gingival Neoplasm|Neoplasm, Gingival|Neoplasms, Gingival Cancer|Mouth disease Gingival Overgrowth MESH:D019214 DO:DOID:3086 Excessive growth of the gingiva either by an increase in the size of the constituent cells (GINGIVAL HYPERTROPHY) or by an increase in their number (GINGIVAL HYPERPLASIA). (From Jablonski's Dictionary of Dentistry, 1992, p574) MESH:D005882 C07.465.714.258.428 C07.465.714.258 Gingival Overgrowths|Overgrowth, Gingival|Overgrowths, Gingival Mouth disease Gingival Pocket MESH:D005888 An abnormal extension of a gingival sulcus not accompanied by the apical migration of the epithelial attachment. MESH:D005891 C01.408.360|C07.465.714.258.480.360 C01.408|C07.465.714.258.480 Gingival Pockets|Pocket, Gingival|Pockets, Gingival Mouth disease Gingival Recession MESH:D005889 DO:DOID:1134 Exposure of the root surface when the edge of the gum (GINGIVA) moves apically away from the crown of the tooth. This is common with advancing age, vigorous tooth brushing, diseases, or tissue loss of the gingiva, the PERIODONTAL LIGAMENT and the supporting bone (ALVEOLAR PROCESS). MESH:D005882|MESH:D055093 C07.465.714.258.447|C07.465.714.354.625 C07.465.714.258|C07.465.714.354 Atrophy of Gingiva|Gingiva Atrophies|Gingiva Atrophy|Gingival Atrophies|Gingival Atrophy|Gingival Recessions|Recession, Gingival|Recessions, Gingival Mouth disease Gingivitis MESH:D005891 DO:DOID:3087 Inflammation of gum tissue (GINGIVA) without loss of connective tissue. MESH:D005882|MESH:D007239 C01.408|C07.465.714.258.480 C01|C07.465.714.258 Gingivitides Mouth disease Gingivitis, Necrotizing Ulcerative MESH:D005892 DO:DOID:13924|DO:DOID:9673 An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA. MESH:D005674|MESH:D005891 C01.150.252.400.388.350.350|C01.408.446|C07.465.714.258.480.446 C01.150.252.400.388.350|C01.408|C07.465.714.258.480 Acute Membranous Gingivitis|Acute Necrotizing Ulcerative Gingivitis|Fusospirillary Gingivitis|Fusospirillosis|Phagedenic Gingivitis|Stomatitis, Ulcerative|Trench Mouth|Vincent Angina|Vincent Infection|Vincent's Gingivitis|Vincent's Infection|Vincent's Stomatitis Bacterial infection or mycosis|Mouth disease Gitelman Syndrome MESH:D053579 DO:DOID:0050450|OMIM:263800 An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS. MESH:D015499 C12.050.351.968.419.815.491|C12.200.777.419.815.491|C12.950.419.815.491|C16.320.831.491 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.831 Familial Hypokalemia Hypomagnesemia|Familial Hypokalemia-Hypomagnesemia|Gitelman's Syndrome|GTLMNS|Hypokalemia-Hypomagnesemia, Familial|Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria|Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria|Potassium and Magnesium Depletion|Primary Renotubular, Hypokalemia-Hypomagnesemia with Hypocalciuria|Primary Renotubular, Hypomagnesemia-Hypokalemia with Hypocalciuria|Syndrome, Gitelman|Syndrome, Gitelman's|Tubular Hypomagnesemia Hypokalemia with Hypocalcuria|Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Glanders MESH:D005896 DO:DOID:13444 A contagious disease of horses that can be transmitted to humans. It is caused by BURKHOLDERIA MALLEI and characterized by ulceration of the respiratory mucosa and an eruption of nodules on the skin. MESH:D006734|MESH:D019121 C01.150.252.400.170.400|C22.488.409 C01.150.252.400.170|C22.488 Animal disease|Bacterial infection or mycosis Glanzmann Thrombasthenia, Autosomal Dominant MESH:C566061 OMIM:187800 MESH:D013915 C15.378.100.100.820/C566061|C15.378.140.810/C566061|C15.378.463.810/C566061|C16.320.099.820/C566061 C15.378.100.100.820|C15.378.140.810|C15.378.463.810|C16.320.099.820 BDPLT16|BLEEDING DISORDER, PLATELET-TYPE, 16|GLANZMANN THROMBASTHENIA-LIKE WITH MACROTHROMBOCYTOPENIA 1|Thrombasthenia of Glanzmann and Naegeli, Autosomal Dominant Blood disease|Genetic disease (inborn) Glassy cell carcinoma of the cervix MESH:C536823 MESH:D002583 C04.588.945.418.948.850/C536823|C12.050.351.500.852.593.131/C536823|C12.050.351.500.852.762.850/C536823|C12.050.351.937.418.875.850/C536823|C12.100.250.852.593.131/C536823|C12.100.250.852.762.850/C536823|C12.900.418.875.850/C536823 C04.588.945.418.948.850|C12.050.351.500.852.593.131|C12.050.351.500.852.762.850|C12.050.351.937.418.875.850|C12.100.250.852.593.131|C12.100.250.852.762.850|C12.900.418.875.850 Glassy cell adenocarcinoma of the uterine cervix Cancer|Urogenital disease (female) Glaucoma MESH:D005901 DO:DOID:1686 An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed) MESH:D009798 C11.525.381 C11.525 Glaucomas Eye disease Glaucoma 1, Open Angle, A MESH:C564234 OMIM:137750 MESH:D005902 C11.525.381.407/C564234 C11.525.381.407 Glaucoma, Primary Open Angle, Juvenile-Onset, 1|GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1;JOAG1 GLAUCOMA 1, OPEN ANGLE, L, INCLUDED|GLC1A|GLC1L, INCLUDED Eye disease GLAUCOMA 1, OPEN ANGLE, B OMIM:606689 DO:DOID:1067 MESH:D005902 C11.525.381.407/606689 C11.525.381.407 GLC1B Eye disease Glaucoma 1, Open Angle, C MESH:C566641 MESH:D005902 C11.525.381.407/C566641 C11.525.381.407 Eye disease Glaucoma 1, Open Angle, D MESH:C566551 OMIM:602429 MESH:D005902 C11.525.381.407/C566551 C11.525.381.407 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET|GLC1D Eye disease Glaucoma 1, Open Angle, E MESH:C564233 MESH:D005902 C11.525.381.407/C564233 C11.525.381.407 Eye disease Glaucoma 1, Open Angle, F MESH:C566383 OMIM:603383 MESH:D005902 C11.525.381.407/C566383 C11.525.381.407 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET|GLC1F Eye disease Glaucoma 1, Open Angle, G MESH:C563692 OMIM:609887 MESH:D005902 C11.525.381.407/C563692 C11.525.381.407 GLC1G Eye disease Glaucoma 1, Open Angle, H MESH:C566976 OMIM:611276 MESH:D005902 C11.525.381.407/C566976 C11.525.381.407 GLC1H Eye disease Glaucoma 1, Open Angle, I MESH:C565724 OMIM:609745 MESH:D005902 C11.525.381.407/C565724 C11.525.381.407 GLC1I Eye disease Glaucoma 1, Open Angle, J MESH:C563874 OMIM:608695 MESH:D005902 C11.525.381.407/C563874 C11.525.381.407 Glaucoma, Primary Open Angle, Juvenile-Onset, 2|GLC1J|JOAG2 Eye disease Glaucoma 1, Open Angle, K MESH:C563873 OMIM:608696 MESH:D005902 C11.525.381.407/C563873 C11.525.381.407 Glaucoma, Primary Open Angle, Juvenile-Onset, 3|GLC1K|JOAG3 Eye disease Glaucoma 1, Open Angle, M MESH:C566436 OMIM:610535 MESH:D005902 C11.525.381.407/C566436 C11.525.381.407 GLC1M Eye disease Glaucoma 1, Open Angle, N MESH:C566977 OMIM:611274 MESH:D005902 C11.525.381.407/C566977 C11.525.381.407 GLC1N Eye disease Glaucoma 1, Open Angle, O MESH:C567753 OMIM:613100 MESH:D005901 C11.525.381/C567753 C11.525.381 Glc1o|Primary Open Angle Glaucoma-1O Eye disease Glaucoma 1, Open Angle, P MESH:C566748 MESH:D015785 C11.270/C566748|C16.320.290/C566748 C11.270|C16.320.290 Pseudoglaucoma Eye disease|Genetic disease (inborn) GLAUCOMA 1, PRIMARY OPEN ANGLE, C OMIM:601682 MESH:D005902 C11.525.381.407/601682 C11.525.381.407 GLC1C Eye disease Glaucoma 3, Primary Congenital, A MESH:C565547 OMIM:231300 MESH:D005901 C11.525.381/C565547 C11.525.381 BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED|GLAUCOMA, CONGENITAL|GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, INCLUDED|GLC3|GLC3A Eye disease GLAUCOMA 3, PRIMARY CONGENITAL, C OMIM:613085 DO:DOID:0050593 MESH:D005901 C11.525.381/613085 C11.525.381 GLC3C Eye disease Glaucoma 3, Primary Congenital, D MESH:C567765 OMIM:613086 MESH:D005901 C11.525.381/C567765 C11.525.381 Glc3d Eye disease GLAUCOMA 3, PRIMARY CONGENITAL, E OMIM:617272 MESH:D005901 C11.525.381/617272 C11.525.381 GLC3E Eye disease Glaucoma 3, primary infantile, B MESH:C536824 OMIM:600975 MESH:D005901 C11.525.381/C536824 C11.525.381 Glaucoma, primary congenital, type 3B|Glaucoma, Primary Congenital, Type B|GLC3B|GLC3, TYPE B|Primary congenital glaucoma type 3B Eye disease Glaucoma and Sleep Apnea MESH:C564232 MESH:D005901|MESH:D012891 C08.618.085.852/C564232|C10.886.425.800.750/C564232|C11.525.381/C564232 C08.618.085.852|C10.886.425.800.750|C11.525.381 Eye disease|Nervous system disease|Respiratory tract disease Glaucoma, Angle-Closure MESH:D015812 DO:DOID:13550 A form of glaucoma in which the intraocular pressure increases because the angle of the anterior chamber is blocked and the aqueous humor cannot drain from the anterior chamber. MESH:D005901 C11.525.381.056 C11.525.381 Angle Closure Glaucoma|Angle-Closure Glaucoma|Angle Closure Glaucomas|Angle-Closure Glaucomas|Closed-Angle Glaucoma|Closed-Angle Glaucomas|Glaucoma, Angle Closure|Glaucoma, Closed Angle|Glaucoma, Closed-Angle|Glaucoma, Narrow Angle|Glaucoma, Narrow-Angle|Glaucomas, Angle Closure|Glaucomas, Angle-Closure|Glaucomas, Closed-Angle|Glaucomas, Narrow-Angle|Glaucomas, Uncompensated|Glaucomas, Uncompensative|Glaucoma, Uncompensated|Glaucoma, Uncompensative|Narrow-Angle Glaucoma|Narrow-Angle Glaucomas|Uncompensated Glaucoma|Uncompensated Glaucomas|Uncompensative Glaucoma|Uncompensative Glaucomas Eye disease Glaucoma Iridogoniodysplasia, Familial MESH:C566650 MESH:D005901 C11.525.381/C566650 C11.525.381 Eye disease Glaucoma, Neovascular MESH:D015355 DO:DOID:1687 A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber. MESH:D005901 C11.525.381.348 C11.525.381 Glaucomas, Neovascular|Neovascular Glaucoma|Neovascular Glaucomas Eye disease GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO OMIM:606657 MESH:D005901 C11.525.381/606657 C11.525.381 GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO|NPG|NTG Eye disease Glaucoma, Open-Angle MESH:D005902 DO:DOID:1067|DO:DOID:1070|OMIM:137760 Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris. MESH:D005901 C11.525.381.407 C11.525.381 Chronic Primary Open Angle Glaucoma|Compensated Glaucoma|Compensative Glaucoma|GLAUCOMA 1, OPEN ANGLE, E, INCLUDED|Glaucoma, Compensated|Glaucoma, Compensative|Glaucoma, Open Angle|Glaucoma, Pigmentary|Glaucoma, Primary Open Angle|GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED|Glaucoma, Secondary Open Angle|Glaucoma, Simple|Glaucoma Simplex|GLC1E, INCLUDED|Open Angle Glaucoma|Open-Angle Glaucoma|Open Angle Glaucomas|Open-Angle Glaucomas|Pigmentary Glaucoma|POAG|Primary Open Angle Glaucoma|Secondary Open Angle Glaucoma|Simple Glaucoma|Simplex, Glaucoma|Simplices, Glaucoma Eye disease Glaucoma-Related Pigment Dispersion Syndrome MESH:C563184 DO:DOID:0060680|OMIM:600510 MESH:D005902 C11.525.381.407/C563184 C11.525.381.407 Glaucoma, Pigment-Dispersion Type|GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME|GPDS1|GPDS1 Glaucoma-Related Pigment Dispersion Syndrome|OCULAR PIGMENT DISPERSION WITH OR WITHOUT GLAUCOMA|OPDG|PDS|Pigment-Dispersion Syndrome|PIGMENT DISPERSION SYNDROME Eye disease Glaucoma with Elevated Episcleral Venous Pressure MESH:C564235 MESH:D005902 C11.525.381.407/C564235 C11.525.381.407 Eye disease Glioblastoma MESH:D005909 DO:DOID:3068|DO:DOID:3074 A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures. MESH:D001254 C04.557.465.625.600.380.080.335|C04.557.470.670.380.080.335|C04.557.580.625.600.380.080.335 C04.557.465.625.600.380.080|C04.557.470.670.380.080|C04.557.580.625.600.380.080 Astrocytoma, Grade IV|Astrocytomas, Grade IV|Giant Cell Glioblastoma|Giant Cell Glioblastomas|Glioblastoma, Giant Cell|Glioblastoma Multiforme|Glioblastomas|Glioblastomas, Giant Cell|Grade IV Astrocytoma|Grade IV Astrocytomas Cancer Glioma MESH:D005910 DO:DOID:3070|DO:DOID:5076|OMIM:137800|OMIM:607248|OMIM:613028|OMIM:613029|OMIM:613030|OMIM:613031|OMIM:613033|OMIM:616568 Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas (ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas (OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle. (From Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21) MESH:D018302 C04.557.465.625.600.380|C04.557.470.670.380|C04.557.580.625.600.380 C04.557.465.625.600|C04.557.470.670|C04.557.580.625.600 ASTROCYTOMA, INCLUDED|EPENDYMOMA, INCLUDED|GBM, INCLUDED|Glial Cell Tumor|Glial Cell Tumors|GLIOBLASTOMA MULTIFORME, INCLUDED|Glioma, Malignant|Glioma, Mixed|GLIOMA OF BRAIN, FAMILIAL, INCLUDED|Gliomas|Gliomas, Malignant|Gliomas, Mixed|GLIOMA SUSCEPTIBILITY 1|GLIOMA SUSCEPTIBILITY 2|GLIOMA SUSCEPTIBILITY 3|GLIOMA SUSCEPTIBILITY 4|GLIOMA SUSCEPTIBILITY 5|GLIOMA SUSCEPTIBILITY 6|GLIOMA SUSCEPTIBILITY 8|GLM1|GLM2|GLM3|GLM4|GLM5|GLM6|GLM8|GLM, INCLUDED|Malignant Glioma|Malignant Gliomas|Mixed Glioma|Mixed Gliomas|MOVED TO 615848|OLIGODENDROGLIOMA, INCLUDED|SUBEPENDYMOMA, INCLUDED|Tumor, Glial Cell|Tumors, Glial Cell Cancer Glioma of Brain, Familial MESH:C564230 MESH:D001932|MESH:D005910 C04.557.465.625.600.380/C564230|C04.557.470.670.380/C564230|C04.557.580.625.600.380/C564230|C04.588.614.250.195/C564230|C10.228.140.211/C564230|C10.551.240.250/C564230 C04.557.465.625.600.380|C04.557.470.670.380|C04.557.580.625.600.380|C04.588.614.250.195|C10.228.140.211|C10.551.240.250 Cancer|Nervous system disease Glioma, Subependymal MESH:D018315 DO:DOID:4843 Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22) MESH:D004806 C04.557.465.625.600.380.290.390|C04.557.470.670.380.290.390|C04.557.580.625.600.380.290.390 C04.557.465.625.600.380.290|C04.557.470.670.380.290|C04.557.580.625.600.380.290 Adult Subependymal Astrocytoma|Adult Subependymal Astrocytomas|Astrocytoma, Adult Subependymal|Astrocytomas, Adult Subependymal|Astrocytomas, Subependymal|Astrocytoma, Subependymal|Gliomas, Subependymal|Glioses, Subependymal|Gliosis, Subependymal|Subependymal Astrocytoma|Subependymal Astrocytoma, Adult|Subependymal Astrocytomas|Subependymal Astrocytomas, Adult|Subependymal Glioma|Subependymal Gliomas|Subependymal Glioses|Subependymal Gliosis|Subependymoma|Subependymomas Cancer Gliosarcoma MESH:D018316 DO:DOID:3071 Rare mixed tumors of the brain and rarely the spinal cord which contain malignant neuroectodermal (glial) and mesenchymal components, including spindle-shaped fibrosarcoma cells. These tumors are highly aggressive and present primarily in adults as rapidly expanding mass lesions. They may arise in tissue that has been previously irradiated. (From Br J Neurosurg 1995 Apr;9(2):171-8) MESH:D005910 C04.557.465.625.600.380.400|C04.557.470.670.380.400|C04.557.580.625.600.380.400 C04.557.465.625.600.380|C04.557.470.670.380|C04.557.580.625.600.380 Glioblastoma with Sarcomatous Component|Glioma, Sarcomatous|Gliomas, Sarcomatous|Gliosarcomas|Sarcomatous Glioma|Sarcomatous Gliomas Cancer Gliosis MESH:D005911 The production of a dense fibrous network of neuroglia; includes astrocytosis, which is a proliferation of astrocytes in the area of a degenerative lesion. MESH:D010335 C23.550.369 C23.550 Astrocytoses|Astrocytosis|Astrogliosis|Glial Scar|Glial Scars|Scar, Glial Pathology (process) GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES OMIM:617260 MESH:D002658|MESH:D019066|MESH:D061085 C10.500.034/617260|C16.131.666.034/617260|C23.300.008/617260|C23.550.291.812/617260|F03.625.421/617260 C10.500.034|C16.131.666.034|C23.300.008|C23.550.291.812|F03.625.421 GDACCF Congenital abnormality|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Pathology (process) Globulin Anomaly involving Beta (2A)-Globulin MESH:C564229 MESH:D001778 C15.378.100/C564229 C15.378.100 Blood disease Globus Sensation MESH:D000079564 A feeling of a lump in the throat that occurs between meals in the absence of other gastrointestinal and motility disorders (e.g., DYSPHAGIA; GASTROESOPHAGEAL REFLUX). MESH:D003291 F03.875.300.500 F03.875.300 Globus Hystericus|Globus Pharyngeus|Globus Sensations|Sensation, Globus Mental disorder Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria MESH:C563693 MESH:D033461|MESH:D052177 C12.050.351.968.419.403/C563693|C12.200.777.419.403/C563693|C12.950.419.403/C563693|C23.550.449/C563693 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C23.550.449 Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Glomerulonephritis MESH:D005921 DO:DOID:2921 Inflammation of the renal glomeruli (KIDNEY GLOMERULUS) that can be classified by the type of glomerular injuries including antibody deposition, complement activation, cellular proliferation, and glomerulosclerosis. These structural and functional abnormalities usually lead to HEMATURIA; PROTEINURIA; HYPERTENSION; and RENAL INSUFFICIENCY. MESH:D009393 C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363 C12.050.351.968.419.570|C12.200.777.419.570|C12.950.419.570 Bright Disease|Glomerulonephritides|Kidney Scarring|Scarring, Kidney Urogenital disease (female)|Urogenital disease (male) Glomerulonephritis, IGA MESH:D005922 DO:DOID:2986|OMIM:161950|OMIM:613944|OMIM:616818 A chronic form of glomerulonephritis characterized by deposits of predominantly IMMUNOGLOBULIN A in the mesangial area (GLOMERULAR MESANGIUM). Deposits of COMPLEMENT C3 and IMMUNOGLOBULIN G are also often found. Clinical features may progress from asymptomatic HEMATURIA to END-STAGE KIDNEY DISEASE. MESH:D001327|MESH:D005921 C12.050.351.968.419.570.363.608|C12.200.777.419.570.363.608|C12.950.419.570.363.608|C20.111.525 C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363|C20.111 Berger Disease|Berger's Disease|Bergers Disease|Glomerulonephritides, IGA|IGA Glomerulonephritis|IGAN|IGAN1|IGAN2|IGAN3|IGA Nephropathy|Iga Nephropathy 1|IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1|IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2|IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3|IGA Type Nephritis|Immunoglobulin A Nephropathy|Nephritis, IGA Type|Nephropathy 1, Iga|Nephropathy, IGA|Nephropathy, Immunoglobulin A Immune system disease|Urogenital disease (female)|Urogenital disease (male) Glomerulonephritis, Membranoproliferative MESH:D015432 DO:DOID:2920 Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN. MESH:D005921|MESH:D007154 C12.050.351.968.419.570.363.615|C12.200.777.419.570.363.615|C12.950.419.570.363.615|C20.425 C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363|C20 C3G Complement 3 Glomerulopathy|Complement 3 Glomerulopathies|Complement 3 Glomerulopathy|DDD MPGNII|DDD MPGNIIs|Dense Deposit Disease|Glomerulonephritides, Membranoproliferative|Glomerulonephritides, MPGN Membranoproliferative|Glomerulonephritis, Hypocomplementemic|Glomerulonephritis, Mesangiocapillary|Glomerulonephritis, MPGN Membranoproliferative|Glomerulopathies, Complement 3|Glomerulopathy, Complement 3|Hypocomplementemic Glomerulonephritides|Hypocomplementemic Glomerulonephritis|Membranoproliferative Glomerulonephritides|Membranoproliferative Glomerulonephritides, MPGN|Membranoproliferative Glomerulonephritis|Membranoproliferative Glomerulonephritis, MPGN|Membranoproliferative Glomerulonephritis, Subendothelial|Membranoproliferative Glomerulonephritis, Type I|Membranoproliferative Glomerulonephritis Type II|Membranoproliferative Glomerulonephritis, Type II|Membranoproliferative Glomerulonephritis, Type III|Mesangiocapillary Glomerulonephritides|Mesangiocapillary Glomerulonephritis|Mesangiocapillary Glomerulonephritis, Type I|Mesangiocapillary Glomerulonephritis, Type II|MPGNII|MPGNII, DDD|MPGNIIs|MPGN Membranoproliferative Glomerulonephritides|MPGN Membranoproliferative Glomerulonephritis|MPGN, Type II|Subendothelial Membranoproliferative Glomerulonephritis|Type II MPGN|Type II MPGNs Immune system disease|Urogenital disease (female)|Urogenital disease (male) Glomerulonephritis, Membranous MESH:D015433 DO:DOID:10976|OMIM:614692 A type of glomerulonephritis that is characterized by the accumulation of immune deposits (COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane. MESH:D001327|MESH:D005921 C12.050.351.968.419.570.363.625|C12.200.777.419.570.363.625|C12.950.419.570.363.625|C20.111.535 C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363|C20.111 Extramembranous Glomerulopathy|Glomerulonephritides, Idiopathic Membranous|Glomerulonephritides, Membranous|Glomerulonephritis, Idiopathic Membranous|Glomerulonephropathy, Membranous|Glomerulopathy, Extramembranous|Glomerulopathy, Membranous|Heymann Nephritis|Idiopathic Membranous Glomerulonephritides|Idiopathic Membranous Glomerulonephritis|Idiopathic Membranous Nephropathy|MBNP|Membranous Glomerulonephritides|Membranous Glomerulonephritides, Idiopathic|Membranous Glomerulonephritis|Membranous Glomerulonephritis, Idiopathic|Membranous Glomerulonephropathy|Membranous Glomerulopathy|Membranous Nephropathy|Membranous Nephropathy, Idiopathic|MEMBRANOUS NEPHROPATHY, SUSCEPTIBILITY TO|Nephritis, Heymann|Nephropathy, Idiopathic Membranous|Nephropathy, Membranous Immune system disease|Urogenital disease (female)|Urogenital disease (male) Glomerulonephritis sparse hair telangiectases MESH:C536825 MESH:D000505|MESH:D013684|MESH:D015432 C12.050.351.968.419.570.363.615/C536825|C12.200.777.419.570.363.615/C536825|C12.950.419.570.363.615/C536825|C14.907.823/C536825|C17.800.329.937.122/C536825|C20.425/C536825|C23.300.035/C536825 C12.050.351.968.419.570.363.615|C12.200.777.419.570.363.615|C12.950.419.570.363.615|C14.907.823|C17.800.329.937.122|C20.425|C23.300.035 Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis|Glomerulonephritis With Sparse Hair And Telangiectases|Telangiectatic membranoproliferative glomerulonephritis Cardiovascular disease|Immune system disease|Pathology (anatomical condition)|Skin disease|Urogenital disease (female)|Urogenital disease (male) Glomerulonephritis With Isolated C3 Deposits And Factor I Deficiency MESH:C567033 MESH:D015432 C12.050.351.968.419.570.363.615/C567033|C12.200.777.419.570.363.615/C567033|C12.950.419.570.363.615/C567033|C20.425/C567033 C12.050.351.968.419.570.363.615|C12.200.777.419.570.363.615|C12.950.419.570.363.615|C20.425 Immune system disease|Urogenital disease (female)|Urogenital disease (male) Glomerulopathy with fibronectin deposits MESH:C536826 OMIM:137950|OMIM:601894 MESH:D015432 C12.050.351.968.419.570.363.615/C536826|C12.200.777.419.570.363.615/C536826|C12.950.419.570.363.615/C536826|C20.425/C536826 C12.050.351.968.419.570.363.615|C12.200.777.419.570.363.615|C12.950.419.570.363.615|C20.425 Fibronectin glomerulopathy|GFND1|GFND2|Glomerular nephritis, familial, with fibronectin deposits|GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1|Glomerulopathy With Fibronectin Deposits 2|GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS|LOBULAR GLOMERULOPATHY, FAMILIAL Immune system disease|Urogenital disease (female)|Urogenital disease (male) Glomerulopathy with Giant Fibrillar Deposits MESH:C562900 MESH:D005921 C12.050.351.968.419.570.363/C562900|C12.200.777.419.570.363/C562900|C12.950.419.570.363/C562900 C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363 Glomerulopathy with Fibronectin Deposits 1|Lobular Glomerulopathy, Familial Urogenital disease (female)|Urogenital disease (male) Glomerulosclerosis, Focal Segmental MESH:D005923 DO:DOID:1312|OMIM:603278|OMIM:607832|OMIM:612551|OMIM:614131|OMIM:616002|OMIM:616032|OMIM:616220 A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. MESH:D005921 C12.050.351.968.419.570.363.640|C12.200.777.419.570.363.660|C12.950.419.570.363.640 C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363 Focal Glomerulosclerosis|Focal Sclerosing Glomerulonephritides|Focal Sclerosing Glomerulonephritis|Focal Segmental Glomerulosclerosis|FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1|FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO|FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO|FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6|FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7|FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8|FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9|FSGS1|FSGS3|FSGS4|FSGS6|FSGS7|FSGS8|FSGS9|Glomerular Hyalinosis, Segmental|Glomerulonephritides, Focal Sclerosing|Glomerulonephritis, Focal Sclerosing|Glomerulosclerosis, Focal|GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1|GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 3, SUSCEPTIBILITY TO|GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6|GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7|GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 8|GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 9|Hyalinosis, Segmental|Hyalinosis, Segmental Glomerular|Sclerosing Glomerulonephritides, Focal|Sclerosing Glomerulonephritis, Focal|Segmental Glomerular Hyalinosis|Segmental Glomerulosclerosis, Focal|Segmental Hyalinosis Urogenital disease (female)|Urogenital disease (male) Glomus Jugulare Tumor MESH:D005925 A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4) MESH:D010236 C04.557.465.625.650.700.705.340|C04.557.580.625.650.700.705.340 C04.557.465.625.650.700.705|C04.557.580.625.650.700.705 Glomus Jugulare Tumors|Glomus Tumors, Familial, 1|Jugulare Tumor, Glomus|Paragangliomas 1|Paragangliomas, Familial, 1|Tumor, Glomus Jugulare Cancer Glomus Tumor MESH:D005918 DO:DOID:2431|DO:DOID:2436 A blue-red, extremely painful vascular neoplasm involving a glomeriform arteriovenous anastomosis (glomus body), which may be found anywhere in the skin, most often in the distal portion of the fingers and toes, especially beneath the nail. It is composed of specialized pericytes (sometimes termed glomus cells), usually in single encapsulated nodular masses which may be several millimeters in diameter (From Stedman, 27th ed). CHEMODECTOMA, a tumor of NEURAL CREST origin, is also sometimes called a glomus tumor. MESH:D009383 C04.557.645.350 C04.557.645 Glomangioma|Glomangiomas|Glomus Tumors|Tumor, Glomus|Tumors, Glomus Cancer Glomus Tympanicum Tumor MESH:D043604 A rare PARAGANGLIOMA involving the GLOMUS TYMPANICUM, a collection of chemoreceptor tissue adjacent to the TYMPANIC CAVITY. It can cause TINNITUS and conductive hearing loss (HEARING LOSS, CONDUCTIVE). MESH:D010236 C04.557.465.625.650.700.705.360|C04.557.580.625.650.700.705.360 C04.557.465.625.650.700.705|C04.557.580.625.650.700.705 Glomus Tympanicum Tumors|Tumor, Glomus Tympanicum|Tumors, Glomus Tympanicum Cancer Glomus vagale tumors MESH:C536827 OMIM:138000 MESH:D005918|MESH:D010236 C04.557.465.625.650.700.705/C536827|C04.557.580.625.650.700.705/C536827|C04.557.645.350/C536827 C04.557.465.625.650.700.705|C04.557.580.625.650.700.705|C04.557.645.350 Glomangiomas, Multiple|Glomus Tumors, Multiple|Glomuvenous malformations|GVM|Venous Malformations With Glomus Cells|VMGLOM Cancer Glossalgia MESH:D005926 Painful sensations in the tongue, including a sensation of burning. MESH:D010146|MESH:D014060 C07.465.910.280|C23.888.592.612.414 C07.465.910|C23.888.592.612 Glossalgias|Glossodynia|Glossodynias|Glossopyroses|Glossopyrosis Mouth disease|Signs and symptoms Glossitis MESH:D005928 DO:DOID:1456 Inflammation of the tongue. MESH:D014060 C07.465.910.363 C07.465.910 Glossitides Mouth disease Glossitis, Benign Migratory MESH:D005929 DO:DOID:1455 An idiopathic disorder of the tongue characterized by the loss of filiform papillae leaving reddened areas of circinate macules bound by a white band. The lesions heal, then others erupt. MESH:D005928 C07.465.910.363.447 C07.465.910.363 Benign Migratory Glossitis|Erythema Migrans, Lingual|Geographic Tongue|Glossitis Areata Exfoliativa|Lingual Erythema Migrans|Migratory Glossitis, Benign|Tongue, Geographic Mouth disease Glossopharyngeal Nerve Diseases MESH:D020435 DO:DOID:14423|DO:DOID:7558 Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with SYNCOPE. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390) MESH:D003389 C10.292.450 C10.292 Cranial Nerve IX Diseases|Cranial Nerve IX Disorders|Glossopharyngeal Motor Neuropathies|Glossopharyngeal Motor Neuropathy|Glossopharyngeal Nerve Disease|Glossopharyngeal Nerve Sensory Neuropathy|Glossopharyngeal Nerve Taste Disorder|Glossopharyngeal Neuralgia|Glossopharyngeal Neuralgias|Motor Neuropathies, Glossopharyngeal|Motor Neuropathy, Glossopharyngeal|Neuralgia, Glossopharyngeal|Neuralgias, Glossopharyngeal|Ninth Cranial Nerve Diseases|Sensory Neuropathy, Glossopharyngeal Nerve|Taste Disorder, Glossopharyngeal Nerve Nervous system disease Glossopharyngeal Nerve Injuries MESH:D061287 Traumatic injuries to the GLOSSOPHARYNGEAL NERVE. MESH:D020209|MESH:D020435 C10.292.200.531|C10.292.450.500|C10.900.300.218.331|C26.915.300.400.343 C10.292.200|C10.292.450|C10.900.300.218|C26.915.300.400 Avulsion, Glossopharyngeal Nerve|Avulsions, Glossopharyngeal Nerve|Contusion, Glossopharyngeal Nerve|Contusions, Glossopharyngeal Nerve|Cranial Nerve IX Injury|Glossopharyngeal Nerve Avulsion|Glossopharyngeal Nerve Avulsions|Glossopharyngeal Nerve Contusion|Glossopharyngeal Nerve Contusions|Glossopharyngeal Nerve Injury|Glossopharyngeal Nerve Transection|Glossopharyngeal Nerve Transections|Glossopharyngeal Nerve Trauma|Glossopharyngeal Nerve Traumas|Glossopharyngeal Neuropathies, Traumatic|Glossopharyngeal Neuropathy, Traumatic|Injuries, Glossopharyngeal Nerve|Injury, Cranial Nerve IX|Injury, Glossopharyngeal Nerve|Injury, Ninth Cranial Nerve|Nerve Avulsion, Glossopharyngeal|Nerve Avulsions, Glossopharyngeal|Nerve Contusion, Glossopharyngeal|Nerve Contusions, Glossopharyngeal|Nerve Injuries, Glossopharyngeal|Nerve Injury, Glossopharyngeal|Nerve Transection, Glossopharyngeal|Nerve Transections, Glossopharyngeal|Nerve Trauma, Glossopharyngeal|Nerve Traumas, Glossopharyngeal|Neuropathies, Traumatic Glossopharyngeal|Neuropathy, Traumatic Glossopharyngeal|Ninth Cranial Nerve Injuries|Ninth Cranial Nerve Injury|Ninth-Nerve Palsies, Traumatic|Ninth Nerve Palsy, Traumatic|Ninth-Nerve Palsy, Traumatic|Ninth Nerve Trauma|Ninth-Nerve Trauma|Ninth-Nerve Traumas|Palsies, Traumatic Ninth-Nerve|Palsy, Traumatic Ninth-Nerve|Transection, Glossopharyngeal Nerve|Transections, Glossopharyngeal Nerve|Trauma, Glossopharyngeal Nerve|Trauma, Ninth-Nerve|Traumas, Glossopharyngeal Nerve|Traumas, Ninth-Nerve|Traumatic Glossopharyngeal Neuropathies|Traumatic Glossopharyngeal Neuropathy|Traumatic Ninth-Nerve Palsies|Traumatic Ninth Nerve Palsy|Traumatic Ninth-Nerve Palsy Nervous system disease|Wounds and injuries Glossophobia MESH:C000719203 MESH:D000072861 F03.080.725.500/C000719203 F03.080.725.500 Fear of public speaking|Fear of speaking in public|Phobia, public speaking Mental disorder Glossoptosis MESH:D065710 Posterior displacement of the TONGUE toward the PHARYNX. It is often a feature in syndromes such as in PIERRE ROBIN SYNDROME and DOWN SYNDROME and associated with AIRWAY OBSTRUCTION during sleep (OBSTRUCTIVE SLEEP APNEAS). MESH:D014060 C07.465.910.411 C07.465.910 Glossoptoses Mouth disease Glucagonoma MESH:D005935 An almost always malignant GLUCAGON-secreting tumor derived from the PANCREATIC ALPHA CELLS. It is characterized by a distinctive migratory ERYTHEMA; WEIGHT LOSS; STOMATITIS; GLOSSITIS; DIABETES MELLITUS; hypoaminoacidemia; and normochromic normocytic ANEMIA. MESH:D018273 C04.557.470.200.025.290.750|C04.588.274.761.500.249|C04.588.322.475.500.249|C06.301.761.500.249|C06.689.667.500.249|C19.344.421.500.249 C04.557.470.200.025.290|C04.588.274.761.500|C04.588.322.475.500|C06.301.761.500|C06.689.667.500|C19.344.421.500 Adenoma, alpha Cell|Adenoma, alpha-Cell|Adenomas, alpha-Cell|alpha-Cell Adenoma|alpha-Cell Adenomas|alpha Cell Tumor|alpha-Cell Tumor|alpha-Cell Tumors|Glucagonomas|Glucagonoma Syndrome|Glucagonoma Syndromes|Syndrome, Glucagonoma|Syndromes, Glucagonoma|Tumor, alpha-Cell|Tumors, alpha-Cell Cancer|Digestive system disease|Endocrine system disease Glucocorticoid Deficiency 2 MESH:C564577 OMIM:607398 MESH:D000309 C19.053.500/C564577 C19.053.500 Familial Glucocorticoid Deficiency 2|FGD2|GCCD2 Endocrine system disease Glucocorticoid Deficiency 3 MESH:C563776 OMIM:609197 MESH:D000309 C19.053.500/C563776 C19.053.500 Familial Glucocorticoid Deficiency 3|FGD3|GCCD2, FORMERLY|GCCD3|GLUCOCORTICOID DEFICIENCY 2, FORMERLY Endocrine system disease GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY OMIM:614736 MESH:D000309 C19.053.500/614736 C19.053.500 GCCD4 Endocrine system disease Glucocorticoid Receptor Deficiency MESH:C564221 OMIM:615962 MESH:D008661 C16.320.565/C564221|C18.452.648/C564221 C16.320.565|C18.452.648 Body Composition, Beneficial|Cortisol Resistance from Glucocorticoid Receptor Defect|GCCR|GCCR Deficiency|GCR Deficiency|GLUCOCORTICOID RECEPTOR DEFICIENCY|Glucocorticoid Resistance|GLUCOCORTICOID RESISTANCE, GENERALIZED|GRL DEFICIENCY|Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance Genetic disease (inborn)|Metabolic disease Glucocorticoid-Remediable Aldosteronism MESH:C563177 DO:DOID:14080|OMIM:103900 MESH:D006929 C19.053.800.604/C563177 C19.053.800.604 ACTH-Dependent Hyperaldosteronism Syndrome|Aldosteronism, Sensitive to Dexamethasone|FH I|GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM|Glucocorticoid-Suppressible Hyperaldosteronism|GRA|GSH|HALD1|Hyperaldosteronism, Familial, Type I Endocrine system disease Glucoglycinuria MESH:C562670 MESH:D000592 C16.320.565.100/C562670|C18.452.648.100/C562670 C16.320.565.100|C18.452.648.100 Genetic disease (inborn)|Metabolic disease GLUCOSE-6-PHOSPHATE DEHYDROGENASE-LIKE OMIM:138110 MESH:D005955 C15.378.071.141.150.480/138110|C16.320.070.480/138110|C16.320.565.202.402/138110|C18.452.648.202.402/138110 C15.378.071.141.150.480|C16.320.070.480|C16.320.565.202.402|C18.452.648.202.402 G6PDL Blood disease|Genetic disease (inborn)|Metabolic disease Glucose-6-phosphate translocase deficiency MESH:C536831 MESH:D005953 C16.320.565.202.449.448/C536831|C18.452.648.202.449.448/C536831 C16.320.565.202.449.448|C18.452.648.202.449.448 Genetic disease (inborn)|Metabolic disease Glucose-Galactose Malabsorption MESH:C562602 OMIM:606824 MESH:D002239|MESH:D008286 C06.405.469.637/C562602|C16.320.565.202/C562602|C18.452.603/C562602|C18.452.648.202/C562602 C06.405.469.637|C16.320.565.202|C18.452.603|C18.452.648.202 Carbohydrate Intolerance|Complex Carbohydrate Intolerance|GGM|Glucose Galactose Malabsorption|GLUCOSE/GALACTOSE MALABSORPTION|GM|Monosaccharide Malabsorption Digestive system disease|Genetic disease (inborn)|Metabolic disease Glucose Intolerance MESH:D018149 DO:DOID:10603 A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION. MESH:D006943 C18.452.394.952.500 C18.452.394.952 Glucose Intolerances|Glucose Tolerance, Impaired|Glucose Tolerances, Impaired|Impaired Glucose Tolerance|Impaired Glucose Tolerances|Intolerance, Glucose|Intolerances, Glucose|Tolerance, Impaired Glucose|Tolerances, Impaired Glucose Metabolic disease Glucose Metabolism Disorders MESH:D044882 DO:DOID:4194 Pathological conditions in which the BLOOD GLUCOSE cannot be maintained within the normal range, such as in HYPOGLYCEMIA and HYPERGLYCEMIA. Etiology of these disorders varies. Plasma glucose concentration is critical to survival for it is the predominant fuel for the CENTRAL NERVOUS SYSTEM. MESH:D008659 C18.452.394 C18.452 Disorder, Glucose Metabolic|Disorder, Glucose Metabolism|Disorders, Glucose Metabolic|Disorders, Glucose Metabolism|Glucose Metabolic Disorder|Glucose Metabolic Disorders|Glucose Metabolism Disorder|Metabolic Disorder, Glucose|Metabolic Disorders, Glucose|Metabolism Disorder, Glucose|Metabolism Disorders, Glucose Metabolic disease Glucosephosphate Dehydrogenase Deficiency MESH:D005955 DO:DOID:2862 A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. MESH:D000745|MESH:D002239 C15.378.071.141.150.480|C16.320.070.480|C16.320.565.202.402|C18.452.648.202.402 C15.378.071.141.150|C16.320.070|C16.320.565.202|C18.452.648.202 Deficiencies, G6PD|Deficiencies, Glucose-6-Phosphate Dehydrogenase|Deficiencies, Glucosephosphate Dehydrogenase|Deficiencies, GPD|Deficiency, G6PD|Deficiency, Glucose-6-Phosphate Dehydrogenase|Deficiency, Glucosephosphate Dehydrogenase|Deficiency, GPD|Deficiency of Glucose 6 Phosphate Dehydrogenase|Deficiency of Glucose-6-Phosphate Dehydrogenase|Dehydrogenase Deficiencies, Glucose-6-Phosphate|Dehydrogenase Deficiencies, Glucosephosphate|Dehydrogenase Deficiency, Glucose-6-Phosphate|Dehydrogenase Deficiency, Glucosephosphate|G6PD Deficiencies|G6PD Deficiency|Glucose-6-Phosphate Dehydrogenase Deficiencies|Glucose 6 Phosphate Dehydrogenase Deficiency|Glucose-6-Phosphate Dehydrogenase Deficiency|Glucosephosphate Dehydrogenase Deficiencies|GPD Deficiencies|GPD Deficiency|Hemolytic Anemia Due to G6PD Deficiency Blood disease|Genetic disease (inborn)|Metabolic disease Glut1 Deficiency Syndrome MESH:C536830 OMIM:606777 MESH:D002239 C16.320.565.202/C536830|C18.452.648.202/C536830 C16.320.565.202|C18.452.648.202 De Vivo disease|Encephalopathy Due To Glut1 Deficiency|Glucose transport defect, blood-brain barrier|GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE, INCLUDED|Glucose Transporter Protein Syndrome|Glucose Transporter Type 1 Deficiency Syndrome|Glucose transporter type1 (GLUT-1) deficiency|GLUT-1 deficiency syndrome|GLUT1 DEFICIENCY SYNDROME 1|GLUT1DS1 Genetic disease (inborn)|Metabolic disease GLUT1 DEFICIENCY SYNDROME 2 OMIM:612126 DO:DOID:0090045 MESH:C564288|MESH:D004421 C10.228.662.300/C564288/612126|C10.597.350.300/612126|C23.888.592.350.300/612126 C10.228.662.300/C564288|C10.597.350.300|C23.888.592.350.300 DYSTONIA 18|DYT18|GLUT1DS2|PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA|PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA|PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA Nervous system disease|Signs and symptoms Glutamate formiminotransferase deficiency MESH:C537425 DO:DOID:0111679|OMIM:229100 MESH:D008661 C16.320.565/C537425|C18.452.648/C537425 C16.320.565|C18.452.648 Arakawa syndrome 1|FIGLU-Uria|Formiminoglutamic Aciduria|Formiminoglutamicaciduria (FIGLU-uria)|Formiminotransferase Deficiency|Formiminotransferase deficiency syndrome Genetic disease (inborn)|Metabolic disease Glutamate Monosodium Sensitivity MESH:C562377 MESH:D000592 C16.320.565.100/C562377|C18.452.648.100/C562377 C16.320.565.100|C18.452.648.100 Chinese Restaurant Syndrome Genetic disease (inborn)|Metabolic disease Glutamine deficiency, congenital MESH:C536832 OMIM:610015 MESH:D000592 C16.320.565.100/C536832|C18.452.648.100/C536832 C16.320.565.100|C18.452.648.100 Glutamine synthase deficiency, congenital systemic|Glutamine synthetase deficiency, congenital systemic Genetic disease (inborn)|Metabolic disease Glutamyl Ribose-5-Phosphate Storage Disease MESH:C564422 MESH:D000015|MESH:D016464 C16.131.077/C564422|C16.320.565.595/C564422|C18.452.648.595/C564422 C16.131.077|C16.320.565.595|C18.452.648.595 ADP-Ribose Protein Hydrolase Deficiency Congenital abnormality|Genetic disease (inborn)|Metabolic disease Glutaric Acidemia I MESH:C536833 DO:DOID:0111254|OMIM:231670 MESH:D000592|MESH:D001928 C10.228.140.163/C536833|C16.320.565.100/C536833|C18.452.132/C536833|C18.452.648.100/C536833 C10.228.140.163|C16.320.565.100|C18.452.132|C18.452.648.100 GA1|GA I|Glutaric acidemia 1|Glutaric Acidemia Type 1|Glutaric Acidemia Type I|Glutaric aciduria 1|Glutaric Aciduria I|Glutaryl-CoA dehydrogenase deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease Glutaric aciduria 2 MESH:C536834 MESH:D054069 C16.320.565.100.614/C536834|C18.452.648.100.614/C536834|C18.452.660.612/C536834 C16.320.565.100.614|C18.452.648.100.614|C18.452.660.612 Glutaric acidemia 2 A Genetic disease (inborn)|Metabolic disease Glutaric Aciduria III MESH:C562818 OMIM:231690 MESH:D000592 C16.320.565.100/C562818|C18.452.648.100/C562818 C16.320.565.100|C18.452.648.100 GA3|GA III|Glutaryl-CoA Oxidase Deficiency Genetic disease (inborn)|Metabolic disease Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to MESH:C564217 OMIM:614164 MESH:D000743 C15.378.071.141/C564217 C15.378.071.141 GLUTATHIONE PEROXIDASE DEFICIENCY|GPXD Blood disease Glutathione Reductase, Hemolytic Anemia due to Deficiency of, in Red Cells MESH:C564218 MESH:D000743 C15.378.071.141/C564218 C15.378.071.141 Blood disease Glutathione synthetase deficiency MESH:C536835 DO:DOID:0080699|OMIM:266130 MESH:D000592 C16.320.565.100/C536835|C18.452.648.100/C536835 C16.320.565.100|C18.452.648.100 5-oxoprolinemia|5-oxoprolinuria|Deficiency of Glutathione Synthase|Deficiency of Glutathione Synthetase|Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to|GSSD|Pyroglutamic Acidemia|Pyroglutamic aciduria Genetic disease (inborn)|Metabolic disease GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO OMIM:231900 DO:DOID:0112252 MESH:C536835|MESH:D000743 C15.378.071.141/231900|C16.320.565.100/C536835/231900|C18.452.648.100/C536835/231900 C15.378.071.141|C16.320.565.100/C536835|C18.452.648.100/C536835 GSSDE Blood disease|Genetic disease (inborn)|Metabolic disease Glutathionuria MESH:C536836 DO:DOID:0111257|OMIM:231950 MESH:D000592 C16.320.565.100/C536836|C18.452.648.100/C536836 C16.320.565.100|C18.452.648.100 Gamma-glutamyltransferase deficiency|Gamma-glutamyltranspeptidase deficiency|GGT DEFICIENCY|GTG DEFICIENCY Genetic disease (inborn)|Metabolic disease Glyceraldehyde-3-phosphate dehydrogenase deficiency MESH:C536837 MESH:D044882 C18.452.394/C536837 C18.452.394 Metabolic disease GLYCEROL KINASE DEFICIENCY OMIM:307030 DO:DOID:0060363 MESH:D002239 C16.320.565.202/307030|C18.452.648.202/307030 C16.320.565.202|C18.452.648.202 GK1 DEFICIENCY|GKD|GK DEFICIENCY|HYPERGLYCEROLEMIA Genetic disease (inborn)|Metabolic disease GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE OMIM:617301 MESH:D001928 C10.228.140.163/617301|C18.452.132/617301 C10.228.140.163|C18.452.132 Metabolic disease|Nervous system disease Glycinuria with or without Oxalate Urolithiasis MESH:C563009 MESH:D000592|MESH:D052878 C12.050.351.968.967/C563009|C12.200.777.967/C563009|C12.950.967/C563009|C16.320.565.100/C563009|C18.452.648.100/C563009 C12.050.351.968.967|C12.200.777.967|C12.950.967|C16.320.565.100|C18.452.648.100 Glycinuria with or without Oxalate Nephrolithiasis|Iminoglycinuria Type II Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Glycogen Storage Disease MESH:D006008 DO:DOID:2747 A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. MESH:D002239 C16.320.565.202.449|C18.452.648.202.449 C16.320.565.202|C18.452.648.202 Disease, Glycogen Storage|Diseases, Glycogen Storage|Glycogenoses|Glycogenosis|Glycogen Storage Diseases|Storage Disease, Glycogen|Storage Diseases, Glycogen Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease 0, Liver MESH:C565485 OMIM:240600 MESH:D006008|MESH:D008107 C06.552/C565485|C16.320.565.202.449/C565485|C18.452.648.202.449/C565485 C06.552|C16.320.565.202.449|C18.452.648.202.449 GSD 0a|GSD0A|Hypoglycemia With Deficiency Of Glycogen Synthetase In The Liver|Liver Glycogen Storage Disease 0|Liver Glycogen Synthase Deficiency Digestive system disease|Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease 0, Muscle MESH:C566917 OMIM:611556 MESH:D006008 C16.320.565.202.449/C566917|C18.452.648.202.449/C566917 C16.320.565.202.449|C18.452.648.202.449 GSD 0b|GSD0B|Muscle Glycogen Storage Disease 0|Muscle Glycogen Synthase Deficiency Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease IB MESH:C562594 OMIM:232220 MESH:D005953 C16.320.565.202.449.448/C562594|C18.452.648.202.449.448/C562594 C16.320.565.202.449.448|C18.452.648.202.449.448 Glucose-6-Phosphate Transport Defect|GSD1B|GSD Ib Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease IC MESH:C562805 OMIM:232240 MESH:D006008 C16.320.565.202.449/C562805|C18.452.648.202.449/C562805 C16.320.565.202.449|C18.452.648.202.449 GSD1C|GSD1D, INCLUDED|GSD Ic GLYCOGEN STORAGE DISEASE Id, INCLUDED Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease Id MESH:C562806 MESH:D005953 C16.320.565.202.449.448/C562806|C18.452.648.202.449.448/C562806 C16.320.565.202.449.448|C18.452.648.202.449.448 GSD1d Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease IIIA MESH:C566889 MESH:D006010 C16.320.565.202.449.520/C566889|C18.452.648.202.449.520/C566889 C16.320.565.202.449.520|C18.452.648.202.449.520 GSD IIIA Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease IIIB MESH:C566890 MESH:D006010 C16.320.565.202.449.520/C566890|C18.452.648.202.449.520/C566890 C16.320.565.202.449.520|C18.452.648.202.449.520 GSD IIIB Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease IIIC MESH:C566891 MESH:D006010 C16.320.565.202.449.520/C566891|C18.452.648.202.449.520/C566891 C16.320.565.202.449.520|C18.452.648.202.449.520 GSD IIIC Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease IIID MESH:C566892 MESH:D006010 C16.320.565.202.449.520/C566892|C18.452.648.202.449.520/C566892 C16.320.565.202.449.520|C18.452.648.202.449.520 GSD IIID Genetic disease (inborn)|Metabolic disease GLYCOGEN STORAGE DISEASE IXa1 OMIM:306000 DO:DOID:0111042 MESH:D006008 C16.320.565.202.449/306000|C18.452.648.202.449/306000 C16.320.565.202.449|C18.452.648.202.449 GLYCOGEN STORAGE DISEASE VIII, FORMERLY|GSD9A1|GSD9A2, INCLUDED|GSD IXa2, INCLUDED|GSD VIII, FORMERLY;GSD8, FORMERLY GLYCOGEN STORAGE DISEASE IXa2, INCLUDED|LIVER GLYCOGENOSIS, X-LINKED, TYPE I|LIVER GLYCOGENOSIS, X-LINKED, TYPE II, INCLUDED|XLG1|XLG2, INCLUDED Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease IXB MESH:C563008 DO:DOID:0111041|OMIM:261750 MESH:D006008 C16.320.565.202.449/C563008|C18.452.648.202.449/C563008 C16.320.565.202.449|C18.452.648.202.449 Glycogenosis Of Liver And Muscle, Autosomal Recessive|GSD9B|GSD IXB|Phosphorylase Kinase Deficiency Of Liver And Muscle, Autosomal Recessive Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease IXC MESH:C567809 DO:DOID:0111043|OMIM:613027 MESH:D006008 C16.320.565.202.449/C567809|C18.452.648.202.449/C567809 C16.320.565.202.449|C18.452.648.202.449 GSD9C|GSD IXC Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease of Heart, Lethal Congenital MESH:C564888 OMIM:261740 MESH:D006008|MESH:D006331 C14.280/C564888|C16.320.565.202.449/C564888|C18.452.648.202.449/C564888 C14.280|C16.320.565.202.449|C18.452.648.202.449 Glycogen Storage Disease of Heart|Phosphorylase Kinase Deficiency of Heart Cardiovascular disease|Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease Type I MESH:D005953 DO:DOID:0081329 An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. MESH:D006008 C16.320.565.202.449.448|C18.452.648.202.449.448 C16.320.565.202.449|C18.452.648.202.449 Deficiencies, Glucose-6-Phosphatase|Deficiencies, Glucosephosphatase|Deficiency, Glucose-6-Phosphatase|Deficiency, Glucosephosphatase|Disease, Gierke|Disease, Gierke's|Disease, von Gierke|Disease, von Gierke's|Gierke Disease|Gierke's Disease|Gierkes Disease|Glucose-6-Phosphatase Deficiencies|Glucose 6 Phosphatase Deficiency|Glucose-6-Phosphatase Deficiency|Glucosephosphatase Deficiencies|Glucosephosphatase Deficiency|Glycogenosis 1|Glycogen Storage Disease 1 (GSD I)|Hepatorenal Glycogen Storage Disease|von Gierke Disease|von Gierke's Disease|von Gierkes Disease Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease Type II MESH:D006009 DO:DOID:2752|OMIM:232300 An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4) MESH:D006008|MESH:D020140 C10.228.140.163.100.435.340|C16.320.565.189.435.340|C16.320.565.202.449.500|C16.320.565.595.554.340|C18.452.132.100.435.340|C18.452.648.189.435.340|C18.452.648.202.449.500|C18.452.648.595.554.340 C10.228.140.163.100.435|C16.320.565.189.435|C16.320.565.202.449|C16.320.565.595.554|C18.452.132.100.435|C18.452.648.189.435|C18.452.648.202.449|C18.452.648.595.554 Acid Alpha-Glucosidase Deficiencies|Acid Alpha Glucosidase Deficiency|Acid Alpha-Glucosidase Deficiency|Acid Maltase Deficiencies|Acid Maltase Deficiency|Acid Maltase Deficiency Disease|Adult Glycogen Storage Disease Type II|Alpha-1,4-Glucosidase Deficiencies|Alpha 1,4 Glucosidase Deficiency|Alpha-1,4-Glucosidase Deficiency|Alpha-Glucosidase Deficiencies|Alpha-Glucosidase Deficiencies, Acid|Alpha-Glucosidase Deficiency|Alpha-Glucosidase Deficiency, Acid|AMD|CARDIOMEGALIA GLYCOGENICA DIFFUSA|Deficiencies, Acid Alpha-Glucosidase|Deficiencies, Acid Maltase|Deficiencies, Alpha-1,4-Glucosidase|Deficiencies, GAA|Deficiency, Acid Alpha-Glucosidase|Deficiency, Acid Maltase|Deficiency, Alpha-1,4-Glucosidase|Deficiency Disease, Acid Maltase|Deficiency Disease, Lysosomal alpha-1,4-Glucosidase|Deficiency, GAA|Deficiency of Alpha Glucosidase|Deficiency of Alpha-Glucosidase|Disease, Pompe|Disease, Pompe's|GAA Deficiencies|GAA Deficiency|Generalized Glycogenoses|Generalized Glycogenosis|Glycogenoses, Generalized|Glycogenosis 2|Glycogenosis, Generalized|GLYCOGENOSIS, GENERALIZED, CARDIAC FORM|Glycogenosis Type II|Glycogen Storage Disease II|Glycogen Storage Disease Type 2|Glycogen Storage Disease Type II, Adult|Glycogen Storage Disease Type II, Infantile|Glycogen Storage Disease Type II, Juvenile|GSD2|GSD2s|GSD II|Infantile Glycogen Storage Disease Type II|Juvenile Glycogen Storage Disease Type II|Lysosomal alpha 1,4 Glucosidase Deficiency Disease|Lysosomal alpha-1,4-Glucosidase Deficiency Disease|Maltase Deficiencies, Acid|Pompe Disease|Pompe's Disease|Pompes Disease|Type II, Glycogenosis|Type IIs, Glycogenosis Genetic disease (inborn)|Metabolic disease|Nervous system disease Glycogen Storage Disease Type IIb MESH:D052120 DO:DOID:0050437|OMIM:300257 An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2. MESH:D006008|MESH:D009202|MESH:D038901|MESH:D040181 C10.597.606.360.455.562|C14.280.238.458|C16.320.322.201|C16.320.565.202.449.510|C18.452.648.202.449.510 C10.597.606.360.455|C14.280.238|C16.320.322|C16.320.565.202.449|C18.452.648.202.449 Antopol Disease|Cardiomyopathies, Glycogen Storage|Cardiomyopathy, Glycogen Storage|Danon Disease|Disease, Antopol|Glycogen Storage Cardiomyopathies|Glycogen Storage Cardiomyopathy|Glycogen Storage Disease IIb|Glycogen Storage Disease Limited to the Heart|Glycogen Storage Disease Type 2B|GSD2B, FORMERLY|GSD IIb, FORMERLY|Lysosomal Glycogen Storage Disease with Normal Acid Maltase|Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency|LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY|Pseudoglycogenosis 2|Pseudoglycogenosis 2s|Pseudoglycogenosis II|Pseudoglycogenosis IIs|Vacuolar Cardiomyopathy and Myopathy, X linked|Vacuolar Cardiomyopathy and Myopathy, X-linked|X Linked Vacuolar Cardiomyopathy and Myopathy|X-Linked Vacuolar Cardiomyopathy and Myopathy Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Glycogen Storage Disease Type III MESH:D006010 DO:DOID:2748|OMIM:232400 An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent. MESH:D006008 C16.320.565.202.449.520|C18.452.648.202.449.520 C16.320.565.202.449|C18.452.648.202.449 AGL DEFICIENCY|Amylo-1,6-Glucosidase Deficiencies|Amylo 1,6 Glucosidase Deficiency|Amylo-1,6-Glucosidase Deficiency|Cori Disease|Cori's Disease|Coris Disease|Debrancher Deficiencies|Debrancher Deficiencies, Glycogen|Debrancher Deficiency|Debrancher Deficiency, Glycogen|Deficiencies, Amylo-1,6-Glucosidase|Deficiencies, Debrancher|Deficiencies, Glycogen Debrancher|Deficiency, Amylo-1,6-Glucosidase|Deficiency, Debrancher|Deficiency, Glycogen Debrancher|Dextrinoses, Limit|Dextrinosis, Limit|Disease, Cori|Disease, Cori's|Disease, Forbes|Forbes Disease|GDE DEFICIENCY GLYCOGEN STORAGE DISEASE IIIa, INCLUDED|Glycogen Debrancher Deficiencies|Glycogen Debrancher Deficiency|Glycogen Debranching Enzyme Deficiency|Glycogenosis 3|Glycogenosis 3s|Glycogen Storage Disease III|GLYCOGEN STORAGE DISEASE IIIb, INCLUDED|GLYCOGEN STORAGE DISEASE IIIc, INCLUDED|GLYCOGEN STORAGE DISEASE IIId, INCLUDED|Glycogen Storage Disease Type 3|GSD3|GSD IIIa, INCLUDED|GSD IIIb, INCLUDED|GSD IIIc, INCLUDED|GSD IIId, INCLUDED|Limit Dextrinoses|Limit Dextrinosis Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease Type IV MESH:D006011 DO:DOID:2750|OMIM:232500 An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2. MESH:D006008 C16.320.565.202.449.540|C18.452.648.202.449.540 C16.320.565.202.449|C18.452.648.202.449 Amylopectinoses|Amylopectinosis|Andersen Disease|Andersen's Disease|Andersens Disease|Brancher Deficiencies|Brancher Deficiency|CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN GSD IV, CLASSIC HEPATIC, INCLUDED|Deficiencies, Brancher|Deficiencies, Gbe1|Deficiency, Brancher|Deficiency, Gbe1|Disease, Andersen|Disease, Andersen's|Gbe1 Deficiencies|Gbe1 Deficiency|Glycogen Branching Enzyme Deficiency|Glycogenoses, Type IV|Glycogenosis 4|Glycogenosis 4s|Glycogenosis IV|Glycogenosis IVs|Glycogenosis, Type IV|GLYCOGEN STORAGE DISEASE IV|Glycogen Storage Disease Type 4|GSD4|GSD IV|GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY, INCLUDED|GSD IV, NEUROMUSCULAR FORM, CHILDHOOD, INCLUDED|GSD IV, NEUROMUSCULAR FORM, CONGENITAL, INCLUDED|GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL, INCLUDED|GSD IV, NONPROGRESSIVE HEPATIC, INCLUDED|Type IV Glycogenoses|Type IV Glycogenosis Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease Type Ix MESH:C580130 MESH:D006008 C16.320.565.202.449/C580130|C18.452.648.202.449/C580130 C16.320.565.202.449|C18.452.648.202.449 Gsdix|Gsd Ix|Phk Deficiency|Phosphorylase B Kinase Deficiency|Phosphorylase Kinase Deficiency Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease, Type IXA2 MESH:C567579 MESH:D006008|MESH:D040181 C16.320.322/C567579|C16.320.565.202.449/C567579|C18.452.648.202.449/C567579 C16.320.322|C16.320.565.202.449|C18.452.648.202.449 GSD9A2|GSD IXA2 Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease, Type IXD MESH:C564485 OMIM:300559 MESH:D006008|MESH:D040181 C16.320.322/C564485|C16.320.565.202.449/C564485|C18.452.648.202.449/C564485 C16.320.322|C16.320.565.202.449|C18.452.648.202.449 GLYCOGEN STORAGE DISEASE IXd|GSD9D|GSD IXD|Muscle Glycogenosis, X-Linked|Muscle Phosphorylase Kinase Deficiency Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease Type V MESH:D006012 DO:DOID:2746|OMIM:232600 Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise. MESH:D006008 C16.320.565.202.449.560|C18.452.648.202.449.560 C16.320.565.202.449|C18.452.648.202.449 Deficiencies, Muscle Phosphorylase|deficiencies, Myophosphorylase|Deficiencies, PYGM|Deficiency, Muscle Phosphorylase|deficiency, Myophosphorylase|Deficiency, PYGM|Disease, McArdle|Disease, McArdle's|Glycogenosis 5|Glycogenosis 5s|Glycogen Storage Disease Type 5|Glycogen Storage Disease V|GSD5|GSD V|McArdle Disease|McArdle's Disease|McArdles Disease|Mcardle Syndrome|Mcardle Syndromes|McArdle Type Glycogen Storage Disease|Muscle Glycogen Phosphorylase Deficiency|Muscle Phosphorylase Deficiencies|Muscle Phosphorylase Deficiency|Myophosphorylase deficiencies|Myophosphorylase deficiency|Phosphorylase Deficiencies, Muscle|Phosphorylase Deficiency, Muscle|PYGM Deficiencies|PYGM Deficiency|Syndrome, Mcardle|Syndromes, Mcardle Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease Type VI MESH:D006013 DO:DOID:2754|OMIM:232700 A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity. MESH:D006008 C16.320.565.202.449.580|C18.452.648.202.449.580 C16.320.565.202.449|C18.452.648.202.449 Disease, Hers|Disease, Hers'|Glycogenosis 6|Glycogenosis Type VI|Glycogenosis VI|GLYCOGEN STORAGE DISEASE VI|GSD6|GSD VI|Hepatic Glycogen Phosphorylase Deficiency|Her Disease|Hers Disease|Hers' Disease|Liver Phosphorylase Deficiency Syndrome|PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER|Type VI, Glycogenosis Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease Type VII MESH:D006014 DO:DOID:11721|OMIM:232800 An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant. MESH:D006008|MESH:D009136 C05.651.534.500.149|C10.668.491.175.500.112|C16.320.565.202.449.600|C16.320.577.149|C18.452.648.202.449.600 C05.651.534.500|C10.668.491.175.500|C16.320.565.202.449|C16.320.577|C18.452.648.202.449 Deficiencies, Muscle Phosphofructokinase|Deficiencies, Pfkm|Deficiency, Muscle Phosphofructokinase|Deficiency, Pfkm|Disease, Tarui|Disease, Tarui's|Glycogenosis 7|Glycogen Storage Disease VII|GSD7|GSD VII|Muscle Phosphofructokinase Deficiencies|Muscle Phosphofructokinase Deficiency|Pfkm Deficiencies|Pfkm Deficiency|Phosphofructokinase Deficiencies, Muscle|Phosphofructokinase Deficiency, Muscle|Tarui Disease|Tarui's Disease|Taruis Disease Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Glycogen Storage Disease Type VIII MESH:D006015 DO:DOID:2751 An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. MESH:D006008|MESH:D040181 C16.320.322.217|C16.320.565.202.449.620|C18.452.648.202.449.620 C16.320.322|C16.320.565.202.449|C18.452.648.202.449 Glycogenosis 8 Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease XII MESH:C562718 OMIM:611881 MESH:D006008 C16.320.565.202.449/C562718|C18.452.648.202.449/C562718 C16.320.565.202.449|C18.452.648.202.449 ALDOA Deficiency|Aldolase A Deficiency|Aldolase Deficiency, Red Cell|GSD12|GSD XII|Red Cell Aldolase Deficiency Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease XIII MESH:C567861 OMIM:612932 MESH:D006008 C16.320.565.202.449/C567861|C18.452.648.202.449/C567861 C16.320.565.202.449|C18.452.648.202.449 Enolase 3 Deficiency|Enolase-Beta Deficiency|GSD13|GSD XIII Genetic disease (inborn)|Metabolic disease Glycogen Storage Disease XIV MESH:C567859 OMIM:614921 MESH:D006008 C16.320.565.202.449/C567859|C18.452.648.202.449/C567859 C16.320.565.202.449|C18.452.648.202.449 CDG1T|CDG It|CDGIt|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It|GLYCOGEN STORAGE DISEASE XIV|GSD14|GSD XIV|PGM1 Deficiency|Phosphoglucomutase 1 Deficiency Genetic disease (inborn)|Metabolic disease GLYCOGEN STORAGE DISEASE XV OMIM:613507 DO:DOID:0050579 MESH:D006008 C16.320.565.202.449/613507|C18.452.648.202.449/613507 C16.320.565.202.449|C18.452.648.202.449 GLYCOGENIN DEFICIENCY|GSD15|GSD XV Genetic disease (inborn)|Metabolic disease Glycoprotein IA Deficiency MESH:C566000 MESH:D013921 C15.378.140.855/C566000 C15.378.140.855 GP IA Deficiency Blood disease Glycoprotein Storage Disease MESH:C565538 MESH:D008661 C16.320.565/C565538|C18.452.648/C565538 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Glycosuria MESH:D006029 The appearance of an abnormally large amount of GLUCOSE in the urine, such as more than 500 mg/day in adults. It can be due to HYPERGLYCEMIA or genetic defects in renal reabsorption (RENAL GLYCOSURIA). MESH:D014555|MESH:D044882 C12.050.351.968.934.363|C12.200.777.934.363|C12.950.934.363|C18.452.394.937 C12.050.351.968.934|C12.200.777.934|C12.950.934|C18.452.394 Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Glycosuria, Renal MESH:D006030 OMIM:233100 An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene. MESH:D006029|MESH:D015499 C12.050.351.968.419.815.532|C12.050.351.968.934.363.450|C12.200.777.419.815.532|C12.200.777.934.363.450|C12.950.419.815.532|C12.950.934.363.450|C16.320.831.532|C18.452.394.937.450 C12.050.351.968.419.815|C12.050.351.968.934.363|C12.200.777.419.815|C12.200.777.934.363|C12.950.419.815|C12.950.934.363|C16.320.831|C18.452.394.937 GLYCOSURIA, RENAL|GLYS|GLYS1|Renal Glucosuria|Renal Glycosuria Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 OMIM:610293 MESH:C537277|MESH:D008052 C10.597.742/C537277/610293|C16.320.565.398/610293|C18.452.584.563/610293|C18.452.648.398/610293|C23.888.592.742/C537277/610293 C10.597.742/C537277|C16.320.565.398|C18.452.584.563|C18.452.648.398|C23.888.592.742/C537277 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY|GPIBD1|GPID|PORTAL HYPERTENSION WITH SEIZURES AND/OR MACROCEPHALY Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Glycosylphosphatidylinositol deficiency MESH:C537277 MESH:D012640 C10.597.742/C537277|C23.888.592.742/C537277 C10.597.742|C23.888.592.742 Nervous system disease|Signs and symptoms Glyoxalase II Deficiency MESH:C564215 MESH:D004612|MESH:D008661 C15.378.071.141.150.365/C564215|C16.320.070.365/C564215|C16.320.565/C564215|C18.452.648/C564215 C15.378.071.141.150.365|C16.320.070.365|C16.320.565|C18.452.648 Blood disease|Genetic disease (inborn)|Metabolic disease Gm2-Gangliosidosis, Adult Chronic Type MESH:C564784 MESH:D013661 C10.228.140.163.100.435.825.300.300.500/C564784|C16.320.565.189.435.825.300.300.500/C564784|C16.320.565.398.641.803.350.300.850/C564784|C16.320.565.595.554.825.300.300.840/C564784|C18.452.132.100.435.825.300.300.500/C564784|C18.452.584.563.641.803.350.300.850/C564784|C18.452.648.189.435.825.300.300.500/C564784|C18.452.648.398.641.803.350.300.850/C564784|C18.452.648.595.554.825.300.300.840/C564784 C10.228.140.163.100.435.825.300.300.500|C16.320.565.189.435.825.300.300.500|C16.320.565.398.641.803.350.300.850|C16.320.565.595.554.825.300.300.840|C18.452.132.100.435.825.300.300.500|C18.452.584.563.641.803.350.300.850|C18.452.648.189.435.825.300.300.500|C18.452.648.398.641.803.350.300.850|C18.452.648.595.554.825.300.300.840 Genetic disease (inborn)|Metabolic disease|Nervous system disease Gm2-Gangliosidosis, Variant B1 MESH:C567601 MESH:D013661 C10.228.140.163.100.435.825.300.300.500/C567601|C16.320.565.189.435.825.300.300.500/C567601|C16.320.565.398.641.803.350.300.850/C567601|C16.320.565.595.554.825.300.300.840/C567601|C18.452.132.100.435.825.300.300.500/C567601|C18.452.584.563.641.803.350.300.850/C567601|C18.452.648.189.435.825.300.300.500/C567601|C18.452.648.398.641.803.350.300.850/C567601|C18.452.648.595.554.825.300.300.840/C567601 C10.228.140.163.100.435.825.300.300.500|C16.320.565.189.435.825.300.300.500|C16.320.565.398.641.803.350.300.850|C16.320.565.595.554.825.300.300.840|C18.452.132.100.435.825.300.300.500|C18.452.584.563.641.803.350.300.850|C18.452.648.189.435.825.300.300.500|C18.452.648.398.641.803.350.300.850|C18.452.648.595.554.825.300.300.840 Genetic disease (inborn)|Metabolic disease|Nervous system disease GNATHODIAPHYSEAL DYSPLASIA OMIM:166260 DO:DOID:0111533 MESH:D007569|MESH:D010013 C05.116.099.708.685/166260|C05.500.460/166260|C05.660.207.540.460/166260|C07.320.440/166260|C07.650.500.460/166260|C16.131.621.207.540.460/166260|C16.131.850.500.460/166260|C16.320.737/166260|C17.300.200.540/166260 C05.116.099.708.685|C05.500.460|C05.660.207.540.460|C07.320.440|C07.650.500.460|C16.131.621.207.540.460|C16.131.850.500.460|C16.320.737|C17.300.200.540 GDD|GNATHODIAPHYSEAL SCLEROSIS|OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Gnathostomiasis MESH:D058429 DO:DOID:11379 Infections with nematodes of the genus GNATHOSTOMA, superfamily THELAZIOIDEA. Gnathostomiasis is a food-borne zoonosis caused by eating undercooked or raw fish or meat. MESH:D017205 C01.610.335.508.700.750.380 C01.610.335.508.700.750 Gnathostoma Infection|Gnathostoma Infections|Gnathostomiases|Infection, Gnathostoma|Infections, Gnathostoma Parasitic disease Goat Diseases MESH:D015511 Diseases of the domestic or wild goat of the genus Capra. MESH:D000820 C22.405 C22 Caprine Disease|Caprine Diseases|Disease, Caprine|Disease, Goat|Diseases, Caprine|Diseases, Goat|Goat Disease Animal disease Goiter MESH:D006042 DO:DOID:12176 Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency (HYPOTHYROIDISM), or hormone overproduction (HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic (GOITER, ENDEMIC). MESH:D013959 C19.874.283 C19.874 Goiters Endocrine system disease Goiter, Endemic MESH:D006043 DO:DOID:13198 A form of IODINE deficiency disorders characterized by an enlargement of the THYROID GLAND in a significantly large fraction of a POPULATION GROUP. Endemic goiter is common in mountainous and iodine-deficient areas of the world where the DIET contains insufficient amount of iodine. MESH:D006042 C19.874.283.300 C19.874.283 Endemic Goiter|Endemic Goiters|Goiters, Endemic Endocrine system disease GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS OMIM:138800 DO:DOID:0050489 MESH:C562732|MESH:D018310 C04.557.475.750.847/138800|C04.588.322.455.648/138800|C04.588.322.762.500/138800|C04.588.945.440.915.500/138800|C12.050.351.500.056.630.705.648/138800|C12.050.351.937.418.685.648/138800|C12.100.250.056.630.705.648/138800|C12.100.500.260.937.500/138800|C12.200.294.260.937.500/138800|C12.200.758.409.937.500/138800|C12.900.418.685.648/138800|C12.900.619.937.500/138800|C19.344.410.648/138800|C19.344.762.500/138800|C19.391.630.705.648/138800|C19.391.829.782.500/138800|C19.874.283.501/C562732/138800 C04.557.475.750.847|C04.588.322.455.648|C04.588.322.762.500|C04.588.945.440.915.500|C12.050.351.500.056.630.705.648|C12.050.351.937.418.685.648|C12.100.250.056.630.705.648|C12.100.500.260.937.500|C12.200.294.260.937.500|C12.200.758.409.937.500|C12.900.418.685.648|C12.900.619.937.500|C19.344.410.648|C19.344.762.500|C19.391.630.705.648|C19.391.829.782.500|C19.874.283.501/C562732 EUTHYROID GOITER|GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION|MNG1|MULTINODULAR GOITER, ADOLESCENT|SIMPLE GOITER Cancer|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Goiter, Multinodular 2 MESH:C564546 OMIM:300273 MESH:D006044 C19.874.283.501/C564546 C19.874.283.501 MNG2 Endocrine system disease Goiter, Multinodular 3 MESH:C565260 OMIM:606082 MESH:D006044 C19.874.283.501/C565260 C19.874.283.501 MNG3 Endocrine system disease Goiter, Nodular MESH:D006044 DO:DOID:13197 An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS. MESH:D006042 C19.874.283.501 C19.874.283 Goiters, Nodular|Nodular Goiter|Nodular Goiters Endocrine system disease Goiter, Substernal MESH:D006045 DO:DOID:13200 An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms. MESH:D006042 C19.874.283.601 C19.874.283 Goiter, Intrathoracic|Goiters, Intrathoracic|Goiters, Substernal|Intrathoracic Goiter|Intrathoracic Goiters|Substernal Goiter|Substernal Goiters Endocrine system disease Goldberg-Shprintzen megacolon syndrome MESH:C537279 DO:DOID:0060481|OMIM:609460 MESH:D006627|MESH:D019465 C05.660.207/C537279|C06.198.439/C537279|C06.405.469.158.701.439/C537279|C16.131.314.439/C537279|C16.131.621.207/C537279 C05.660.207|C06.198.439|C06.405.469.158.701.439|C16.131.314.439|C16.131.621.207 GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME|Goldberg-Shprintzen syndrome|GOSHS Congenital abnormality|Digestive system disease|Musculoskeletal disease Goldblatt Viljoen syndrome MESH:C537280 MESH:D002754|MESH:D004948 C08.460.171/C537280|C08.695.271/C537280|C09.603.171/C537280|C10.292.562.887.300/C537280|C11.590.810.400/C537280|C16.131.740.271/C537280 C08.460.171|C08.695.271|C09.603.171|C10.292.562.887.300|C11.590.810.400|C16.131.740.271 Autosomal dominant radial ray hypoplasia syndrome|Goldblatt Viljoen radial ray hypoplasia|Radial ray hypoplasia choanal atresia|Radial Ray Hypoplasia with Choanal Atresia|Radial ray hypoplasia with choanal hypoplasia Congenital abnormality|Ear-nose-throat disease|Eye disease|Nervous system disease|Respiratory tract disease Goldenhar Syndrome MESH:D006053 DO:DOID:2907|OMIM:141400|OMIM:164210 Mandibulofacial dysostosis with congenital eyelid dermoids. MESH:D008342 C05.116.099.370.231.576.410|C05.660.207.231.576.410|C16.131.621.207.231.576.410 C05.116.099.370.231.576|C05.660.207.231.576|C16.131.621.207.231.576 CFM1|Craniofacial Microsomia|CRANIOFACIAL MICROSOMIA 1|Craniofacial Microsomias|Dysostosis, Otomandibular|Dysplasia, Facioauriculovertebral|Dysplasia, Lateral Facial|Dysplasia, Oculoauriculovertebral|Dysplasias, Facioauriculovertebral|Dysplasias, Lateral Facial|Dysplasias, Oculoauriculovertebral|Facial Dysplasia, Lateral|Facial Dysplasias, Lateral|Facioauriculovertebral Dysplasia|Facioauriculovertebral Dysplasias|Facioauriculovertebral Sequence|Facioauriculovertebral Sequences|FAV SEQUENCE|First and Second Branchial Arch Syndrome|First and Second Pharyngeal Arch Syndromes|Goldenhar Disease|Goldenhar Gorlin Syndrome|Goldenhar-Gorlin Syndrome|Goldenhar-Gorlin Syndromes|GOLDENHAR SYNDROME|Goldenhar Syndrome with Ipsilateral Radial Defect|Hemifacial Microsomia|Hemifacial Microsomia with Radial Defects|HFM|Lateral Facial Dysplasia|Lateral Facial Dysplasias|Microsomia, Craniofacial|Microsomia Hemifacial Radial Defects|Microsomias, Craniofacial|Moeschler Clarren Syndrome|OAV DYSPLASIA|OAVS|OAVS with Radial Defect|Oculoauriculovertebral Dysplasia|Oculoauriculovertebral Dysplasias|Oculoauriculovertebral Spectrum|Oculoauriculovertebral Spectrums|Oculoauriculovertebral Spectrum with Radial Defect|Oculoauriculovertebral Syndrome|Oral Mandibular Auricular Syndrome|Oral-Mandibular-Auricular Syndrome|Oral-Mandibular-Auricular Syndromes|Otomandibular Dysostosis Congenital abnormality|Musculoskeletal disease Goldstein Hutt syndrome MESH:C537282 MESH:D002386|MESH:D013103 C11.510.245/C537282|C15.378.071.141.150.785/C537282|C16.320.070.785/C537282 C11.510.245|C15.378.071.141.150.785|C16.320.070.785 Long eyelashes, cataract, and hereditary spherocytosis|Trichomegaly, cataract, and hereditary spherocytosis Blood disease|Eye disease|Genetic disease (inborn) Gollop Coates syndrome MESH:C537283 MESH:D013576 C05.116.099.370.894.819/C537283|C05.660.585.800/C537283|C05.660.906.819/C537283|C16.131.621.585.800/C537283|C16.131.621.906.819/C537283 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 Bifurcation of distal humerus with oligoectro-syndactyly Congenital abnormality|Musculoskeletal disease GOMBO syndrome MESH:C537284 MESH:D006130|MESH:D006314|MESH:D008831|MESH:D008850|MESH:D059327 C05.660.207.620/C537284|C05.660.585.262/C537284|C09.218.458.341.562/C537284|C10.500.507.400.500/C537284|C10.597.751.418.341.562/C537284|C11.250.566/C537284|C16.131.384.666/C537284|C16.131.621.207.620/C537284|C16.131.621.585.262/C537284|C16.131.666.507.400.500/C537284|C23.550.393/C537284|C23.888.592.763.393.341.562/C537284 C05.660.207.620|C05.660.585.262|C09.218.458.341.562|C10.500.507.400.500|C10.597.751.418.341.562|C11.250.566|C16.131.384.666|C16.131.621.207.620|C16.131.621.585.262|C16.131.666.507.400.500|C23.550.393|C23.888.592.763.393.341.562 Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Gomez Lopez Hernandez syndrome MESH:C537285 OMIM:601853 MESH:D000015|MESH:D000505|MESH:D006130|MESH:D019465|MESH:D020752 C05.660.207/C537285|C10.562/C537285|C16.131.077.350.712/C537285|C16.131.077/C537285|C16.131.621.207/C537285|C16.131.831.350.712/C537285|C16.320.850.250.712/C537285|C17.800.329.937.122/C537285|C17.800.804.350.712/C537285|C17.800.827.250.712/C537285|C23.300.035/C537285|C23.550.393/C537285 C05.660.207|C10.562|C16.131.077|C16.131.077.350.712|C16.131.621.207|C16.131.831.350.712|C16.320.850.250.712|C17.800.329.937.122|C17.800.804.350.712|C17.800.827.250.712|C23.300.035|C23.550.393 Cerebellotrigeminal dermal dysplasia|Cerebellotrigeminal-dermal dysplasia|CEREBELLOTRIGEMINAL DERMAL DYSPLASIA CEREBELLO-TRIGEMINAL-DERMAL DYSPLASIA|GLHS|GLH Syndrome|Gomez-Lopez-Hernandez Syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Skin disease Gonadal Disorders MESH:D006058 DO:DOID:2277 Pathological processes of the OVARIES or the TESTES. MESH:D004700 C19.391 C19 Disorder, Gonadal|Disorders, Gonadal|Gonadal Disorder Endocrine system disease Gonadal Dysgenesis MESH:D006059 DO:DOID:14447 A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis. MESH:D012734 C12.050.351.875.253.309|C12.200.706.316.309|C12.800.316.309|C16.131.939.316.309|C19.391.119.309 C12.050.351.875.253|C12.200.706.316|C12.800.316|C16.131.939.316|C19.391.119 Dysgenesis, Gonadal|Gonadal Agenesis Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Gonadal Dysgenesis, 46,XX MESH:D023961 DO:DOID:14450 The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration. MESH:D006059|MESH:D058489 C12.050.351.875.253.064.249|C12.050.351.875.253.309.193|C12.200.706.316.064.249|C12.200.706.316.309.193|C12.800.316.064.249|C12.800.316.309.193|C16.131.939.316.064.249|C16.131.939.316.309.193|C19.391.119.064.249|C19.391.119.309.193 C12.050.351.875.253.064|C12.050.351.875.253.309|C12.200.706.316.064|C12.200.706.316.309|C12.800.316.064|C12.800.316.309|C16.131.939.316.064|C16.131.939.316.309|C19.391.119.064|C19.391.119.309 Gonadal Dysgenesis, 46, XX|Gonadal Dysgenesis, XX Type|Pure Gonadal Dysgenesis, 46,XX|Pure Gonadal Dysgenesis, 46, XX Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Gonadal Dysgenesis, 46,XY MESH:D006061 DO:DOID:14448 Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination. MESH:D006059|MESH:D058490 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 C12.050.351.875.253.096|C12.050.351.875.253.309|C12.200.706.316.096|C12.200.706.316.309|C12.800.316.096|C12.800.316.309|C16.131.939.316.096|C16.131.939.316.309|C19.391.119.096|C19.391.119.309 46,XY Complete Gonadal Dysgenesis|46, XY Gonadal Dysgenesis|46, XY Gonadal Sex Reversal|Complete Gonadal Dysgenesis, 46, XY|Gonadal Dysgenesis, 46, XY|Pure Gonadal Dysgenesis 46,XY|Pure Gonadal Dysgenesis, 46, XY|Sex Reversal, Gonadal, 46, XY|Swyer Syndrome|Syndrome, Swyer|XY Pure Gonadal Dysgenesis Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis MESH:C565295 MESH:D000138|MESH:D006130|MESH:D007006|MESH:D023961 C12.050.351.875.253.064.249/C565295|C12.050.351.875.253.309.193/C565295|C12.200.706.316.064.249/C565295|C12.200.706.316.309.193/C565295|C12.800.316.064.249/C565295|C12.800.316.309.193/C565295|C16.131.939.316.064.249/C565295|C16.131.939.316.309.193/C565295|C18.452.076.176/C565295|C19.391.119.064.249/C565295|C19.391.119.309.193/C565295|C19.391.482/C565295|C23.550.393/C565295 C12.050.351.875.253.064.249|C12.050.351.875.253.309.193|C12.200.706.316.064.249|C12.200.706.316.309.193|C12.800.316.064.249|C12.800.316.309.193|C16.131.939.316.064.249|C16.131.939.316.309.193|C18.452.076.176|C19.391.119.064.249|C19.391.119.309.193|C19.391.482|C23.550.393 Congenital abnormality|Endocrine system disease|Metabolic disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Gonadal Dysgenesis, Mixed MESH:D006060 DO:DOID:14449 A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution. MESH:D006059|MESH:D058533 C12.050.351.875.253.309.391|C12.050.351.875.253.795.249|C12.200.706.316.309.391|C12.200.706.316.795.249|C12.800.316.309.391|C12.800.316.795.249|C16.131.260.830.835.249|C16.131.939.316.309.391|C16.131.939.316.795.249|C16.320.180.830.835.249|C19.391.119.309.391|C19.391.119.795.249 C12.050.351.875.253.309|C12.050.351.875.253.795|C12.200.706.316.309|C12.200.706.316.795|C12.800.316.309|C12.800.316.795|C16.131.260.830.835|C16.131.939.316.309|C16.131.939.316.795|C16.320.180.830.835|C19.391.119.309|C19.391.119.795 Mixed Gonadal Dysgenesis Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Gonadal dysgenesis XX type deafness MESH:C537286 OMIM:233400 MESH:D006319|MESH:D023961 C09.218.458.341.887/C537286|C10.597.751.418.341.887/C537286|C12.050.351.875.253.064.249/C537286|C12.050.351.875.253.309.193/C537286|C12.200.706.316.064.249/C537286|C12.200.706.316.309.193/C537286|C12.800.316.064.249/C537286|C12.800.316.309.193/C537286|C16.131.939.316.064.249/C537286|C16.131.939.316.309.193/C537286|C19.391.119.064.249/C537286|C19.391.119.309.193/C537286|C23.888.592.763.393.341.887/C537286 C09.218.458.341.887|C10.597.751.418.341.887|C12.050.351.875.253.064.249|C12.050.351.875.253.309.193|C12.200.706.316.064.249|C12.200.706.316.309.193|C12.800.316.064.249|C12.800.316.309.193|C16.131.939.316.064.249|C16.131.939.316.309.193|C19.391.119.064.249|C19.391.119.309.193|C23.888.592.763.393.341.887 17-beta-hydroxysteroid dehydrogenase 4, deficiency of|GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS|Ovarian dysgenesis with sensorineural deafness|Peroxisomal bifunctional enzyme complex deficiency|Peroxisomal bifunctional enzyme deficiency|Perrault syndrome|PERRAULT SYNDROME 1|PRLTS1 Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Gonadal Dysgenesis, XY Type, with Associated Anomalies MESH:C565536 MESH:D000015|MESH:D006061 C12.050.351.875.253.096.687/C565536|C12.050.351.875.253.309.388/C565536|C12.200.706.316.096.687/C565536|C12.200.706.316.309.388/C565536|C12.800.316.096.687/C565536|C12.800.316.309.388/C565536|C16.131.077/C565536|C16.131.939.316.096.687/C565536|C16.131.939.316.309.388/C565536|C19.391.119.096.687/C565536|C19.391.119.309.388/C565536 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.077|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Gonadoblastoma MESH:D018238 DO:DOID:3301 A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY. MESH:D006061|MESH:D009373|MESH:D018309 C04.557.465.420|C04.557.475.395|C12.050.351.875.253.096.687.500|C12.050.351.875.253.309.388.500|C12.200.706.316.096.687.500|C12.200.706.316.309.388.500|C12.800.316.096.687.500|C12.800.316.309.388.500|C16.131.939.316.096.687.500|C16.131.939.316.309.388.500|C19.391.119.096.687.500|C19.391.119.309.388.500 C04.557.465|C04.557.475|C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 Gonadoblastomas Cancer|Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Goniodysgenesis-Mental Retardation-Short Stature Syndrome MESH:C564214 MESH:D005124|MESH:D006130|MESH:D008607 C10.597.606.360/C564214|C11.250/C564214|C16.131.384/C564214|C23.550.393/C564214|C23.888.592.604.646/C564214|F03.625.539/C564214 C10.597.606.360|C11.250|C16.131.384|C23.550.393|C23.888.592.604.646|F03.625.539 GMS Syndrome Congenital abnormality|Eye disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Gonorrhea MESH:D006069 DO:DOID:7551 Acute infectious disease characterized by primary invasion of the urogenital tract. The etiologic agent, NEISSERIA GONORRHOEAE, was isolated by Neisser in 1879. MESH:D015231|MESH:D016870 C01.150.252.400.625.275|C01.150.252.734.401|C01.221.812.281.401|C01.778.281.401|C12.100.937.281.401 C01.150.252.400.625|C01.150.252.734|C01.221.812.281|C01.778.281|C12.100.937.281 Neisseria gonorrhoeae Infection Bacterial infection or mycosis Goodman camptodactyly MESH:C537287 MESH:D000168|MESH:D006228 C05.116.099.370.894.232.015/C537287|C05.116.099.370.894.819.100/C537287|C05.390.408/C537287|C05.660.207.240.100/C537287|C05.660.585.800.100/C537287|C05.660.585.988.425/C537287|C05.660.906.364.100/C537287|C05.660.906.819.100/C537287|C16.131.621.207.240.100/C537287|C16.131.621.585.800.100/C537287|C16.131.621.585.988.500/C537287|C16.131.621.906.364.100/C537287|C16.131.621.906.819.100/C537287 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.390.408|C05.660.207.240.100|C05.660.585.800.100|C05.660.585.988.425|C05.660.906.364.100|C05.660.906.819.100|C16.131.621.207.240.100|C16.131.621.585.800.100|C16.131.621.585.988.500|C16.131.621.906.364.100|C16.131.621.906.819.100 Acrocephalopolysyndactyly type 4|Acrocephalopolysyndactyly Type IV|Goodman syndrome Congenital abnormality|Musculoskeletal disease Gordon syndrome MESH:C537288 DO:DOID:0111607 MESH:D001176|MESH:D002972|MESH:D003025|MESH:D006228 C05.330.488.655.063/C537288|C05.330.495.681.063/C537288|C05.390.408/C537288|C05.500.460.185/C537288|C05.550.150/C537288|C05.651.102/C537288|C05.660.077/C537288|C05.660.207.540.460.185/C537288|C05.660.585.512.380.813.063/C537288|C05.660.585.988.425/C537288|C07.320.440.185/C537288|C07.465.525.185/C537288|C07.650.500.460.185/C537288|C07.650.525.185/C537288|C16.131.621.077/C537288|C16.131.621.207.540.460.185/C537288|C16.131.621.585.512.500.681.063/C537288|C16.131.621.585.988.500/C537288|C16.131.850.500.460.185/C537288|C16.131.850.525.185/C537288 C05.330.488.655.063|C05.330.495.681.063|C05.390.408|C05.500.460.185|C05.550.150|C05.651.102|C05.660.077|C05.660.207.540.460.185|C05.660.585.512.380.813.063|C05.660.585.988.425|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.621.077|C16.131.621.207.540.460.185|C16.131.621.585.512.500.681.063|C16.131.621.585.988.500|C16.131.850.500.460.185|C16.131.850.525.185 Arthrogryposis, distal, type 3|Arthrogryposis multiplex congenita, distal, type 2a|Arthrogryposis Multiplex Congenita, Distal, Type IIa|Camptodactyly, cleft palate, and clubfoot|Distal arthrogryposis, type 3 Congenital abnormality|Mouth disease|Musculoskeletal disease Gorlin Bushkell Jensen syndrome MESH:C537289 MESH:D007669|MESH:D009264|MESH:D053549 C12.050.351.968.419.600.500/C537289|C12.050.351.968.967.249.500/C537289|C12.050.351.968.967.500.503/C537289|C12.200.777.419.600.500/C537289|C12.200.777.967.249.500/C537289|C12.200.777.967.500.503/C537289|C12.950.419.600.500/C537289|C12.950.967.249.500/C537289|C12.950.967.500.503/C537289|C16.131.077.350.856/C537289|C16.131.831.350.856/C537289|C16.320.850.250.856/C537289|C17.800.529.594/C537289|C17.800.804.350.856/C537289|C17.800.827.250.856/C537289|C23.300.175.850.550/C537289|C23.300.820/C537289 C12.050.351.968.419.600.500|C12.050.351.968.967.249.500|C12.050.351.968.967.500.503|C12.200.777.419.600.500|C12.200.777.967.249.500|C12.200.777.967.500.503|C12.950.419.600.500|C12.950.967.249.500|C12.950.967.500.503|C16.131.077.350.856|C16.131.831.350.856|C16.320.850.250.856|C17.800.529.594|C17.800.804.350.856|C17.800.827.250.856|C23.300.175.850.550|C23.300.820 Congenital abnormality|Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease|Urogenital disease (female)|Urogenital disease (male) Gout MESH:D006073 DO:DOID:13189 Metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of URIC ACID calculi. MESH:D000070657|MESH:D001168|MESH:D011686|MESH:D012216 C05.550.114.423|C05.550.354.500|C05.799.414|C16.320.565.798.368|C18.452.648.798.368 C05.550.114|C05.550.354|C05.799|C16.320.565.798|C18.452.648.798 Gouts Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Gout, HPRT-Related MESH:C562583 OMIM:300323 MESH:D006073 C05.550.114.423/C562583|C05.550.354.500/C562583|C05.799.414/C562583|C16.320.565.798.368/C562583|C18.452.648.798.368/C562583 C05.550.114.423|C05.550.354.500|C05.799.414|C16.320.565.798.368|C18.452.648.798.368 GOUT, HPRT-RELATED|HPRT1 Deficiency, Partial|HPRT Deficiency, Partial|HRH|HYPERURICEMIA, HPRT-RELATED|Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial|Kelley-Seegmiller Syndrome Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Gracile bone dysplasia MESH:C537291 OMIM:602361 MESH:D001848|MESH:D019465 C05.116.099/C537291|C05.660.207/C537291|C16.131.621.207/C537291 C05.116.099|C05.660.207|C16.131.621.207 GCLEB|Habrodysplasia|Osteocraniosplenic syndrome|Osteocraniostenosis|Skeletal dysplasia, lethal, with gracile bones Congenital abnormality|Musculoskeletal disease Graft Occlusion, Vascular MESH:D006083 Obstruction of flow in biological or prosthetic vascular grafts. MESH:D011183 C23.550.767.400 C23.550.767 Graft Restenoses, Vascular|Graft Restenosis, Vascular|Occlusion, Vascular Graft|Restenosis, Vascular Graft|Vascular Graft Occlusion|Vascular Graft Restenosis Pathology (process) Graft vs Host Disease MESH:D006086 DO:DOID:0081267|OMIM:614395 The clinical entity characterized by anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the GRAFT VS HOST REACTION. MESH:D007154 C20.452 C20 Disease, Graft-Versus-Host|Disease, Graft-vs-Host|Disease, Homologous Wasting|Disease, Runt|Diseases, Graft-Versus-Host|Diseases, Graft-vs-Host|Graft Versus Host Disease|Graft-Versus-Host Disease|GRAFT-VERSUS-HOST DISEASE, RESISTANCE TO, INCLUDED|Graft-Versus-Host Diseases|GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO|Graft-vs-Host Disease|Graft-vs-Host Diseases|GVHDS|Homologous Wasting Disease|Runt Disease Immune system disease Graham Boyle Troxell syndrome MESH:C537292 MESH:D006223|MESH:D007680|MESH:D008175 C04.445.435/C537292|C04.588.894.797.520/C537292|C04.588.945.947.535/C537292|C04.651.435/C537292|C04.700.435/C537292|C08.381.540/C537292|C08.785.520/C537292|C12.050.351.937.820.535/C537292|C12.050.351.968.419.473/C537292|C12.200.758.820.750/C537292|C12.200.777.419.473/C537292|C12.900.820.535/C537292|C12.950.419.473/C537292|C12.950.983.535/C537292|C16.320.700.435/C537292 C04.445.435|C04.588.894.797.520|C04.588.945.947.535|C04.651.435|C04.700.435|C08.381.540|C08.785.520|C12.050.351.937.820.535|C12.050.351.968.419.473|C12.200.758.820.750|C12.200.777.419.473|C12.900.820.535|C12.950.419.473|C12.950.983.535|C16.320.700.435 Cystic hamartomata of lung and kidney Cancer|Genetic disease (inborn)|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Gram-Negative Bacterial Infections MESH:D016905 Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method. MESH:D001424 C01.150.252.400 C01.150.252 Bacterial Infection, Gram-Negative|Bacterial Infections, Gram-Negative|Gram-Negative Bacterial Infection|Gram Negative Bacterial Infections|Infection, Gram-Negative Bacterial|Infections, Gram-Negative Bacterial Bacterial infection or mycosis Gram-Positive Bacterial Infections MESH:D016908 Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method. MESH:D001424 C01.150.252.410 C01.150.252 Bacterial Infection, Gram-Positive|Bacterial Infections, Gram Positive|Bacterial Infections, Gram-Positive|Gram-Positive Bacterial Infection|Gram Positive Bacterial Infections|Infection, Gram-Positive Bacterial|Infections, Gram Positive Bacterial|Infections, Gram-Positive Bacterial Bacterial infection or mycosis Granddad Syndrome MESH:C564211 MESH:D005317|MESH:D019066 C12.050.703.277.370/C564211|C16.300.390/C564211|C23.550.291.812/C564211|C23.550.393.450/C564211 C12.050.703.277.370|C16.300.390|C23.550.291.812|C23.550.393.450 Growth Retardation, Aged Facies, Normal Development, Decreased Subcutaneous Fat, Autosomal Dominant Inheritance Fetal disease|Pathology (process)|Pregnancy complication Grant syndrome MESH:C537293 MESH:D000015|MESH:D010013|MESH:D019465 C05.116.099.708.685/C537293|C05.660.207/C537293|C16.131.077/C537293|C16.131.621.207/C537293|C16.320.737/C537293|C17.300.200.540/C537293 C05.116.099.708.685|C05.660.207|C16.131.077|C16.131.621.207|C16.320.737|C17.300.200.540 Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Granular Cell Tumor MESH:D016586 DO:DOID:2411 Unusual tumor affecting any site of the body, but most often encountered in the head and neck. Considerable debate has surrounded the histogenesis of this neoplasm; however, it is considered to be a myoblastoma of, usually, a benign nature. It affects women more often than men. When it develops beneath the epidermis or mucous membrane, it can lead to proliferation of the squamous cells and mimic squamous cell carcinoma. MESH:D009379 C04.557.450.590.350 C04.557.450.590 Cell Myoblastoma, Granular|Cell Myoblastomas, Granular|Cell Tumor, Granular|Cell Tumors, Granular|Granular Cell Myoblastoma|Granular Cell Myoblastomas|Granular Cell Tumors|Myoblastoma, Granular Cell|Myoblastomas, Granular Cell|Tumor, Granular Cell|Tumors, Granular Cell Cancer Granulocytopenia with Immunoglobulin Abnormality MESH:C565535 DO:DOID:0111974 MESH:D000361|MESH:D000380 C15.378.147.142/C565535|C15.378.553.546.184/C565535|C15.604.515.032/C565535|C20.673.088/C565535 C15.378.147.142|C15.378.553.546.184|C15.604.515.032|C20.673.088 Blood disease|Immune system disease|Lymphatic disease Granuloma MESH:D006099 A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents. MESH:D008232|MESH:D010335 C15.604.515.292|C23.550.382 C15.604.515|C23.550 Granulomas Lymphatic disease|Pathology (process) Granuloma Annulare MESH:D016460 DO:DOID:3777 Benign granulomatous disease of unknown etiology characterized by a ring of localized or disseminated papules or nodules on the skin and palisading histiocytes surrounding necrobiotic tissue resulting from altered collagen structures. MESH:D006099|MESH:D017441 C17.300.200.495.380|C17.800.550.380|C23.550.382.375 C17.300.200.495|C17.800.550|C23.550.382 Connective tissue disease|Pathology (process)|Skin disease Granuloma, Foreign-Body MESH:D015745 Histiocytic, inflammatory response to a foreign body. It consists of modified macrophages with multinucleated giant cells, in this case foreign-body giant cells (GIANT CELLS, FOREIGN-BODY), usually surrounded by lymphocytes. MESH:D005549|MESH:D006099 C23.550.382.437|C26.392.560.325 C23.550.382|C26.392.560 Foreign Body Granuloma|Foreign-Body Granuloma|Foreign-Body Granulomas|Granuloma, Foreign Body|Granulomas, Foreign-Body Pathology (process)|Wounds and injuries Granuloma, Giant Cell MESH:D006101 DO:DOID:1866 A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw. MESH:D005882|MESH:D006099|MESH:D007571 C05.500.368|C07.320.391|C07.465.714.258.557|C23.550.382.468 C05.500|C07.320|C07.465.714.258|C23.550.382 Epulides, Giant Cell|Epulis, Giant Cell|Giant Cell Epulides|Giant Cell Epulis|Giant Cell Granuloma|Giant Cell Granulomas|Granuloma, Giant Cell Reparative|Granulomas, Giant Cell|Peripheral Giant Cell Granuloma Mouth disease|Musculoskeletal disease|Pathology (process) Granuloma Inguinale MESH:D006100 DO:DOID:9113 Anogenital ulcers caused by Calymmatobacterium granulomatis as distinguished from lymphogranuloma inguinale (see LYMPHOGRANULOMA VENEREUM) caused by CHLAMYDIA TRACHOMATIS. Diagnosis is made by demonstration of typical intracellular Donovan bodies in crushed-tissue smears. MESH:D004756|MESH:D015231|MESH:D017192 C01.150.252.400.310.417|C01.150.252.734.451|C01.150.252.819.360|C01.221.812.281.451|C01.778.281.451|C01.800.720.360|C12.100.937.281.451|C17.800.838.765.360 C01.150.252.400.310|C01.150.252.734|C01.150.252.819|C01.221.812.281|C01.778.281|C01.800.720|C12.100.937.281|C17.800.838.765 Donovanosis|Granuloma Venereum Bacterial infection or mycosis|Skin disease Granuloma, Laryngeal MESH:D006102 A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX. MESH:D007818|MESH:D012131|MESH:D015769 C08.280.400|C08.360.232|C08.618.846.414|C09.400.232|C23.550.382.968.500 C08.280|C08.360|C08.618.846|C09.400|C23.550.382.968 Granuloma of Larynx|Granulomas, Laryngeal|Laryngeal Granuloma|Laryngeal Granulomas|Larynx Granuloma|Larynx Granulomas Ear-nose-throat disease|Pathology (process)|Respiratory tract disease Granuloma, Lethal Midline MESH:D006103 DO:DOID:9072 A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS. MESH:D009668 C08.460.393|C09.603.393 C08.460|C09.603 Granuloma Gangraenescens|Granulomas, Lethal Midline|Lethal Midline Granuloma|Lethal Midline Granulomas|Midline Granuloma, Lethal|Midline Granulomas, Lethal|Polymorphic Reticuloses|Polymorphic Reticulosis|Reticuloses, Polymorphic|Reticulosis, Polymorphic Ear-nose-throat disease|Respiratory tract disease Granuloma, Plasma Cell MESH:D006104 A slow-growing benign pseudotumor in which plasma cells greatly outnumber the inflammatory cells. MESH:D006099 C23.550.382.875 C23.550.382 Granulomas, Plasma Cell|Inflammatory Pseudotumor|Inflammatory Pseudotumors|Plasma Cell Granuloma|Plasma Cell Granulomas|Pseudotumor, Inflammatory|Pseudotumors, Inflammatory Pathology (process) Granuloma, Pyogenic MESH:D017789 A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma. MESH:D006099 C23.550.382.937 C23.550.382 Angiogranuloma|Angiogranulomas|Capillary Hemangioma, Lobular|Granuloma Pyogenicum|Granuloma Telangiecticum|Hemangioma, Lobular Capillary|Lobular Capillary Hemangioma|Pyogenic Granuloma Pathology (process) Granuloma, Respiratory Tract MESH:D015769 Granulomatous disorders affecting one or more sites in the respiratory tract. MESH:D006099|MESH:D012140 C08.280|C23.550.382.968 C08|C23.550.382 Granuloma, Respiratory System|Respiratory System Granuloma|Respiratory System Granulomas|Respiratory Tract Granuloma|Respiratory Tract Granulomas Pathology (process)|Respiratory tract disease Granulomas, congenital cerebral MESH:C537294 MESH:D001927|MESH:D006099 C10.228.140/C537294|C15.604.515.292/C537294|C23.550.382/C537294 C10.228.140|C15.604.515.292|C23.550.382 Congenital cerebral granulomas Lymphatic disease|Nervous system disease|Pathology (process) Granulomatosis, Orofacial MESH:D051261 A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease. MESH:D009059|MESH:D010335 C07.465.353|C23.550.384 C07.465|C23.550 Granulomatoses, Orofacial|Orofacial Granulomatoses|Orofacial Granulomatosis Mouth disease|Pathology (process) Granulomatosis with Polyangiitis MESH:D014890 DO:DOID:12132|OMIM:608710 A multisystemic disease of a complex genetic background. It is characterized by inflammation of the blood vessels (VASCULITIS) leading to damage in any number of organs. The common features include granulomatous inflammation of the RESPIRATORY TRACT and KIDNEYS. Most patients have measurable autoantibodies (ANTINEUTROPHIL CYTOPLASMIC ANTIBODIES) against MYELOBLASTIN. MESH:D017563|MESH:D056648 C08.381.483.950|C14.907.940.897.249.750|C17.800.862.105.875|C20.111.193.875 C08.381.483|C14.907.940.897.249|C17.800.862.105|C20.111.193 GPA|Granulomatosis, Wegener|Granulomatosis, Wegener's|Granulomatosis with Polyangiitides|Polyangiitides, Granulomatosis with|Polyangiitis, Granulomatosis with|Wegener Granulomatosis|WEGENER GRANULOMATOSIS, FORMERLY|Wegener's Granulomatosis|WG, FORMERLY|with Polyangiitides, Granulomatosis|with Polyangiitis, Granulomatosis Cardiovascular disease|Immune system disease|Respiratory tract disease|Skin disease Granulomatous Angiitis of the Central Nervous System MESH:C537295 MESH:D020293 C10.114.875/C537295|C10.228.140.300.850/C537295|C14.907.253.946/C537295|C14.907.940.907/C537295|C20.111.258.962/C537295 C10.114.875|C10.228.140.300.850|C14.907.253.946|C14.907.940.907|C20.111.258.962 Granulomatous Angiitis of CNS|Granulomatous angiitis of the nervous system Cardiovascular disease|Immune system disease|Nervous system disease Granulomatous Disease, Chronic MESH:D006105 DO:DOID:3265|OMIM:306400 A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern. MESH:D002908|MESH:D010585|MESH:D040181 C15.378.553.774.535|C16.320.322.233|C20.673.774.535|C23.550.291.500.423 C15.378.553.774|C16.320.322|C20.673.774|C23.550.291.500 Autosomal Recessive Chronic Granulomatous Disease|CGD|CGDX|Chronic Granulomatous Disease|Chronic Granulomatous Disease, Atypical|CHRONIC GRANULOMATOUS DISEASE, ATYPICAL, INCLUDED|Chronic Granulomatous Diseases|Chronic Granulomatous Disease, X Linked|Chronic Granulomatous Disease, X-Linked|CHRONIC GRANULOMATOUS DISEASE, X-LINKED CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, INCLUDED|Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked|Cytochrome B-Positive Granulomatous Disease, Chronic, X-Linked|Granulomatous Disease, Chronic, X-Linked|Granulomatous Disease, Chronic, X-Linked, Variant|GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT, INCLUDED|Granulomatous Diseases, Chronic|X Linked Chronic Granulomatous Disease|X-Linked Chronic Granulomatous Disease Blood disease|Genetic disease (inborn)|Immune system disease|Pathology (process) Granulomatous Disease, Chronic, Autosomal Dominant Type MESH:C564210 MESH:D006105 C15.378.553.774.535/C564210|C16.320.322.233/C564210|C20.673.774.535/C564210|C23.550.291.500.423/C564210 C15.378.553.774.535|C16.320.322.233|C20.673.774.535|C23.550.291.500.423 Blood disease|Genetic disease (inborn)|Immune system disease|Pathology (process) GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 OMIM:613960 DO:DOID:0070194 MESH:D006105 C15.378.553.774.535/613960|C16.320.322.233/613960|C20.673.774.535/613960|C23.550.291.500.423/613960 C15.378.553.774.535|C16.320.322.233|C20.673.774.535|C23.550.291.500.423 CGD3|CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III|GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY Blood disease|Genetic disease (inborn)|Immune system disease|Pathology (process) Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative MESH:C565533 OMIM:233690 MESH:D006105 C15.378.553.774.535/C565533|C16.320.322.233/C565533|C20.673.774.535/C565533|C23.550.291.500.423/C565533 C15.378.553.774.535|C16.320.322.233|C20.673.774.535|C23.550.291.500.423 CGD4|CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE|CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b|Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Negative|Chronic Granulomatous Disease due to Deficiency of the Alpha Subunit of Cytochrome B|CYBA Deficiency|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE Blood disease|Genetic disease (inborn)|Immune system disease|Pathology (process) Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I MESH:C565532 OMIM:233700 MESH:D006105 C15.378.553.774.535/C565532|C16.320.322.233/C565532|C20.673.774.535/C565532|C23.550.291.500.423/C565532 C15.378.553.774.535|C16.320.322.233|C20.673.774.535|C23.550.291.500.423 CGD1|CGD, Autosomal Recessive Cytochrome B-Positive, Type I|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I|Granulomatous Disease, Chronic, due to NCF1 Deficiency|NCF1 DEFICIENCY|NEUTROPHIL CYTOSOL FACTOR 1 DEFICIENCY|Neutrophil Cytosol Factor 1, Deficiency of|p47-PHOX DEFICIENCY|P47-Phox, Deficiency of|SOC2 DEFICIENCY|SOLUBLE OXIDASE COMPONENT II DEFICIENCY|Soluble Oxidase Component II, Deficiency of Blood disease|Genetic disease (inborn)|Immune system disease|Pathology (process) Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II MESH:C565531 OMIM:233710 MESH:D006105 C15.378.553.774.535/C565531|C16.320.322.233/C565531|C20.673.774.535/C565531|C23.550.291.500.423/C565531 C15.378.553.774.535|C16.320.322.233|C20.673.774.535|C23.550.291.500.423 CGD2|CGD, Autosomal Recessive Cytochrome B-Positive, Type II|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II|Granulomatous Disease, Chronic, due to NCF2 Deficiency|NCF2 DEFICIENCY|NEUTROPHIL CYTOSOL FACTOR 2 DEFICIENCY|Neutrophil Cytosol Factor 2, Deficiency of|p67-PHOX DEFICIENCY|P67-Phox, Deficiency of Blood disease|Genetic disease (inborn)|Immune system disease|Pathology (process) Granulomatous Disease with Defect in Neutrophil Chemotaxis MESH:C565534 MESH:D006105 C15.378.553.774.535/C565534|C16.320.322.233/C565534|C20.673.774.535/C565534|C23.550.291.500.423/C565534 C15.378.553.774.535|C16.320.322.233|C20.673.774.535|C23.550.291.500.423 Blood disease|Genetic disease (inborn)|Immune system disease|Pathology (process) Granulomatous Mastitis MESH:D058890 A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with BREAST FEEDING and the use of ORAL CONTRACEPTIVES. MESH:D008413 C12.050.703.844.603.400|C17.800.090.968.400 C12.050.703.844.603|C17.800.090.968 Mastitis, Granulomatous Pregnancy complication|Skin disease Granulosa Cell Tumor MESH:D006106 DO:DOID:2999 A neoplasm composed entirely of GRANULOSA CELLS, occurring mostly in the OVARY. In the adult form, it may contain some THECA CELLS. This tumor often produces ESTRADIOL and INHIBIN. The excess estrogen exposure can lead to other malignancies in women and PRECOCIOUS PUBERTY in girls. In rare cases, granulosa cell tumors have been identified in the TESTES. MESH:D010051|MESH:D018312 C04.557.475.750.656|C04.588.322.455.398|C12.050.351.500.056.630.705.398|C12.050.351.937.418.685.398|C12.100.250.056.630.705.398|C12.900.418.685.398|C19.344.410.398|C19.391.630.705.398 C04.557.475.750|C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C19.344.410|C19.391.630.705 Cancer, Granulosa Cell|Cancer of Granulosa Cells|Cancers, Granulosa Cell|Cell Cancer, Granulosa|Cell Cancers, Granulosa|Cells Cancer, Granulosa|Cells Cancers, Granulosa|Granulosa Cell Cancer|Granulosa Cell Cancers|Granulosa Cells Cancer|Granulosa Cells Cancers|Granulosa Cell Tumors|Tumor, Granulosa Cell|Tumors, Granulosa Cell Cancer|Endocrine system disease|Urogenital disease (female) Granulosa cell tumor of the ovary MESH:C537296 MESH:D006106 C04.557.475.750.656/C537296|C04.588.322.455.398/C537296|C12.050.351.500.056.630.705.398/C537296|C12.050.351.937.418.685.398/C537296|C12.100.250.056.630.705.398/C537296|C12.900.418.685.398/C537296|C19.344.410.398/C537296|C19.391.630.705.398/C537296 C04.557.475.750.656|C04.588.322.455.398|C12.050.351.500.056.630.705.398|C12.050.351.937.418.685.398|C12.100.250.056.630.705.398|C12.900.418.685.398|C19.344.410.398|C19.391.630.705.398 Adult granulosa cell tumor of the ovary|GCT of the ovary|Granulosa theca cell tumor|Granulosa theca cell tumor of the ovary Cancer|Endocrine system disease|Urogenital disease (female) Granulosis Rubra Nasi MESH:C562483 MESH:D006945|MESH:D017444 C17.800.859/C562483|C17.800.946.350/C562483 C17.800.859|C17.800.946.350 Skin disease Graves Disease MESH:D006111 DO:DOID:12361|OMIM:275000|OMIM:603388 A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes (GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy). MESH:D001327|MESH:D005094|MESH:D006042|MESH:D006980 C11.675.349.500|C19.874.283.605|C19.874.397.370|C20.111.555 C11.675.349|C19.874.283|C19.874.397|C20.111 Basedow Disease|Basedow's Disease|Basedows Disease|Disease, Basedow|Disease, Basedow's|Disease, Graves|Disease, Graves'|Exophthalmic Goiter|Exophthalmic Goiters|Goiter, Exophthalmic|Goiters, Exophthalmic|Graves' Disease|GRAVES DISEASE, SUSCEPTIBILITY TO, 1|GRAVES DISEASE, SUSCEPTIBILITY TO, 2|GRD|GRD1|GRD2|Hyperthyroidism, Autoimmune|THYROTOXICOSIS Endocrine system disease|Eye disease|Immune system disease GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1 OMIM:300351 MESH:D006111 C11.675.349.500/300351|C19.874.283.605/300351|C19.874.397.370/300351|C20.111.555/300351 C11.675.349.500|C19.874.283.605|C19.874.397.370|C20.111.555 GRDX1 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2, INCLUDED|GRDX2, INCLUDED Endocrine system disease|Eye disease|Immune system disease Graves Ophthalmopathy MESH:D049970 DO:DOID:0081120 An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy. MESH:D006111|MESH:D015785 C11.270.240|C11.675.349.500.500|C16.320.290.410|C19.874.283.605.500|C19.874.397.370.500|C20.111.555.500 C11.270|C11.675.349.500|C16.320.290|C19.874.283.605|C19.874.397.370|C20.111.555 Congestive Ophthalmopathies|Congestive Ophthalmopathy|Disease, Graves Eye|Disease, Thyroid Eye|Dysthyroid Ophthalmopathies|Dysthyroid Ophthalmopathy|Edematous Ophthalmopathies|Edematous Ophthalmopathy|Eye Disease, Graves|Eye Disease, Thyroid|Graves Eye Disease|Graves Orbitopathy|Infiltrative Ophthalmopathies|Infiltrative Ophthalmopathy|Myopathic Ophthalmopathies|Myopathic Ophthalmopathy|Ophthalmopathies, Thyroid-Associated|Ophthalmopathy, Congestive|Ophthalmopathy, Dysthyroid|Ophthalmopathy, Edematous|Ophthalmopathy, Graves|Ophthalmopathy, Infiltrative|Ophthalmopathy, Myopathic|Ophthalmopathy, Thyroid Associated|Ophthalmopathy, Thyroid-Associated|Orbitopathy, Graves|Thyroid Associated Ophthalmopathies|Thyroid-Associated Ophthalmopathies|Thyroid Associated Ophthalmopathy|Thyroid-Associated Ophthalmopathy|Thyroid Eye Disease|Thyroid Eye Diseases Endocrine system disease|Eye disease|Genetic disease (inborn)|Immune system disease Graying of Hair, Precocious MESH:C564209 MESH:D010859 C17.800.621/C564209|C23.550.755/C564209 C17.800.621|C23.550.755 White Hair, Premature Pathology (process)|Skin disease Gray Platelet Syndrome MESH:D055652 DO:DOID:0111044|DO:DOID:0111049|OMIM:139090 A rare, inherited platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with THROMBOCYTOPENIA, enlarged platelets, and prolonged bleeding time. MESH:D001791|MESH:D025861 C15.378.140.427|C16.320.099.417 C15.378.140|C16.320.099 alpha-Granule Deficiencies, Platelet|alpha-Granule Deficiency, Platelet|BDPLT4|BLEEDING DISORDER, PLATELET-TYPE, 4|GPS|Gray Platelet Syndromes|Grey Platelet Syndrome|Grey Platelet Syndromes|Platelet alpha-Granule Deficiencies|Platelet alpha Granule Deficiency|Platelet alpha-Granule Deficiency|Platelet Syndromes, Grey|Syndrome, Gray Platelet|Syndrome, Grey Platelet|Syndromes, Gray Platelet Blood disease|Genetic disease (inborn) GREENBERG DYSPLASIA OMIM:215140 DO:DOID:0111588 MESH:C535858|MESH:D002114|MESH:D015160 C05.116.099.708/C535858/215140|C12.050.703.277.060.480/215140|C15.378.295.480/215140|C15.378.420.826.100.350/215140|C16.300.060.480/215140|C16.320.365.826.100.350/215140|C16.320.728/C535858/215140|C18.452.174.130/215140|C20.306.480/215140|C23.888.277.395/215140 C05.116.099.708/C535858|C12.050.703.277.060.480|C15.378.295.480|C15.378.420.826.100.350|C16.300.060.480|C16.320.365.826.100.350|C16.320.728/C535858|C18.452.174.130|C20.306.480|C23.888.277.395 CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE|GRBGD|HEM SKELETAL DYSPLASIA|HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA|MOTH-EATEN SKELETAL DYSPLASIA Blood disease|Fetal disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Musculoskeletal disease|Pregnancy complication|Signs and symptoms Green Sandford Davison syndrome MESH:C538221 MESH:D013576 C05.116.099.370.894.819/C538221|C05.660.585.800/C538221|C05.660.906.819/C538221|C16.131.621.585.800/C538221|C16.131.621.906.819/C538221 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 Congenital abnormality|Musculoskeletal disease Greig cephalopolysyndactyly syndrome MESH:C537300 DO:DOID:14761|OMIM:175700 MESH:D000168 C05.116.099.370.894.232.015/C537300|C05.116.099.370.894.819.100/C537300|C05.660.207.240.100/C537300|C05.660.585.800.100/C537300|C05.660.906.364.100/C537300|C05.660.906.819.100/C537300|C16.131.621.207.240.100/C537300|C16.131.621.585.800.100/C537300|C16.131.621.906.364.100/C537300|C16.131.621.906.819.100/C537300 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.660.207.240.100|C05.660.585.800.100|C05.660.906.364.100|C05.660.906.819.100|C16.131.621.207.240.100|C16.131.621.585.800.100|C16.131.621.906.364.100|C16.131.621.906.819.100 Cephalopolysyndactyly Syndrome|GCPS|Greig Cephalopolysyndactyly (Gcps) Syndrome|Greig syndrome|Polysyndactyly with peculiar skull shape Congenital abnormality|Musculoskeletal disease Griscelli syndrome type 1 MESH:C537301 DO:DOID:0060832|OMIM:214450 MESH:D006319|MESH:D010859|MESH:D016116 C09.218.458.341.887/C537301|C10.597.751.418.341.887/C537301|C16.320.290.040.600/C537301|C16.320.565.100.102.600/C537301|C16.320.850.080.600/C537301|C17.800.621.440.102.600/C537301|C17.800.621/C537301|C17.800.827.080.600/C537301|C18.452.648.100.102.600/C537301|C23.550.755/C537301|C23.888.592.763.393.341.887/C537301 C09.218.458.341.887|C10.597.751.418.341.887|C16.320.290.040.600|C16.320.565.100.102.600|C16.320.850.080.600|C17.800.621|C17.800.621.440.102.600|C17.800.827.080.600|C18.452.648.100.102.600|C23.550.755|C23.888.592.763.393.341.887 Griscelli syndrome, cutaneous and neurologic type|Griscelli Syndrome, Type 1|Griscelli syndrome with neurologic impairment|GS1|Partial albinism and primary neurologic disease without hemophagocytic syndrome Ear-nose-throat disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Griscelli syndrome type 2 MESH:C537302 DO:DOID:0060833|OMIM:607624 MESH:D000081207|MESH:D016116|MESH:D051359 C15.604.250.410.575/C537302|C16.320.290.040.600/C537302|C16.320.565.100.102.600/C537302|C16.320.798/C537302|C16.320.850.080.600/C537302|C17.800.621.440.102.600/C537302|C17.800.827.080.600/C537302|C18.452.648.100.102.600/C537302|C20.673.795/C537302 C15.604.250.410.575|C16.320.290.040.600|C16.320.565.100.102.600|C16.320.798|C16.320.850.080.600|C17.800.621.440.102.600|C17.800.827.080.600|C18.452.648.100.102.600|C20.673.795 Albinism, partial with immunodeficiency|Griscelli Syndrome, Type 2|Griscelli syndrome with hemophagocytic syndrome|GS2|PAID SYNDROME|Partial albinism and immunodeficiency|Partial Albinism And Immunodeficiency Syndrome Genetic disease (inborn)|Immune system disease|Lymphatic disease|Metabolic disease|Skin disease Griscelli syndrome type 3 MESH:C537303 DO:DOID:0060834|OMIM:609227 MESH:D010859|MESH:D016116 C16.320.290.040.600/C537303|C16.320.565.100.102.600/C537303|C16.320.850.080.600/C537303|C17.800.621.440.102.600/C537303|C17.800.621/C537303|C17.800.827.080.600/C537303|C18.452.648.100.102.600/C537303|C23.550.755/C537303 C16.320.290.040.600|C16.320.565.100.102.600|C16.320.850.080.600|C17.800.621|C17.800.621.440.102.600|C17.800.827.080.600|C18.452.648.100.102.600|C23.550.755 Griscelli Syndrome, Type 3|GS3|Hypomelanosis with no immunologic or neurologic manifestations Genetic disease (inborn)|Metabolic disease|Pathology (process)|Skin disease Groenouw type I corneal dystrophy MESH:C537304 OMIM:121900 MESH:D003317 C11.204.236/C537304|C11.270.162/C537304|C16.320.290.162/C537304 C11.204.236|C11.270.162|C16.320.290.162 CDGG1|Corneal dystrophy granular type|CORNEAL DYSTROPHY, GROENOUW TYPE I|Corneal dystrophy punctate or nodular|Corneal Dystrophy, Punctate or Nodular|GCD1|Granular Corneal Dystrophy, Type I Eye disease|Genetic disease (inborn) Groll Hirschowitz syndrome MESH:C537305 MESH:D002100|MESH:D003711|MESH:D006313 C09.218.458.341.887.432/C537305|C09.218.807.186.432/C537305|C10.228.140.068.432/C537305|C10.314/C537305|C10.597.751.418.341.887.432/C537305|C23.888.144.243.963.250/C537305|C23.888.144.828.250/C537305|C23.888.592.763.393.341.887.432/C537305 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.314|C10.597.751.418.341.887.432|C23.888.144.243.963.250|C23.888.144.828.250|C23.888.592.763.393.341.887.432 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy|Groll-Hirschowitz Syndrome Ear-nose-throat disease|Nervous system disease|Signs and symptoms Grouped Pigmentation of the Macula MESH:C565530 MESH:D010859|MESH:D012164|MESH:D015785 C11.270/C565530|C11.768/C565530|C16.320.290/C565530|C17.800.621/C565530|C23.550.755/C565530 C11.270|C11.768|C16.320.290|C17.800.621|C23.550.755 Grouped Pigmentation of Retinal Pigment Epithelium Eye disease|Genetic disease (inborn)|Pathology (process)|Skin disease Grover's disease MESH:C537306 MESH:D000051|MESH:D007057 C16.131.831.512/C537306|C16.614.492/C537306|C17.800.428.333/C537306|C17.800.804.512/C537306|C17.800.865.070/C537306|C23.550.035/C537306 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512|C17.800.865.070|C23.550.035 Grover disease|Transient Acantholytic Dermatosis Congenital abnormality|Infant-newborn disease|Pathology (process)|Skin disease Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia MESH:C565755 MESH:D001006|MESH:D001763|MESH:D006130|MESH:D006330|MESH:D008607 C06.198.050/C565755|C10.597.606.360/C565755|C11.338.204/C565755|C14.240.400/C565755|C14.280.400/C565755|C16.131.240.400/C565755|C16.131.314.094/C565755|C23.550.393/C565755|C23.888.592.604.646/C565755|F03.625.539/C565755 C06.198.050|C10.597.606.360|C11.338.204|C14.240.400|C14.280.400|C16.131.240.400|C16.131.314.094|C23.550.393|C23.888.592.604.646|F03.625.539 ROCA Syndrome|ROCA-Weidemann Syndrome Cardiovascular disease|Congenital abnormality|Digestive system disease|Eye disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate MESH:C537405 MESH:D008342|MESH:D008607|MESH:D008831 C05.116.099.370.231.576/C537405|C05.660.207.231.576/C537405|C05.660.207.620/C537405|C10.500.507.400.500/C537405|C10.597.606.360/C537405|C11.270.147.750/C537405|C16.131.621.207.231.576/C537405|C16.131.621.207.620/C537405|C16.131.666.507.400.500/C537405|C23.888.592.604.646/C537405|F03.625.539/C537405 C05.116.099.370.231.576|C05.660.207.231.576|C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C11.270.147.750|C16.131.621.207.231.576|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Growth Deficiency and Mental Retardation with Facial Dysmorphism MESH:C565358 MESH:D000015|MESH:D003286|MESH:D006130|MESH:D008607|MESH:D008831|MESH:D019066 C05.550.323/C565358|C05.651.197/C565358|C05.660.207.620/C565358|C10.500.507.400.500/C565358|C10.597.606.360/C565358|C16.131.077/C565358|C16.131.621.207.620/C565358|C16.131.666.507.400.500/C565358|C23.550.291.812/C565358|C23.550.393/C565358|C23.888.592.604.646/C565358|F03.625.539/C565358 C05.550.323|C05.651.197|C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C16.131.077|C16.131.621.207.620|C16.131.666.507.400.500|C23.550.291.812|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Growth Disorders MESH:D006130 Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth. MESH:D010335 C23.550.393 C23.550 Disorder, Growth|Growth Disorder|Growth, Stunted|Stunted Growth|Stunting|Stuntings Pathology (process) Growth Factors, Combined Defect of MESH:C565529 MESH:D008661 C16.320.565/C565529|C18.452.648/C565529 C16.320.565|C18.452.648 Hoepffner dreyer reimers syndrome|Insulin, Insulin-Like Growth Factor I, and Epidermal Growth Factor Deficiency|Peptide growth factors deficiency|Peptidic growth factors deficiency|Werner-Like Syndrome due to Combined Growth Factor Deficiency Genetic disease (inborn)|Metabolic disease Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy MESH:C564264 MESH:D002386|MESH:D003286|MESH:D006130|MESH:D008607|MESH:D010024|MESH:D013132|MESH:D054220 C05.116.198.579/C564264|C05.550.323/C564264|C05.651.197/C564264|C10.228.140.252.700/C564264|C10.228.854.787/C564264|C10.500.507/C564264|C10.574.500.825/C564264|C10.597.606.360/C564264|C11.510.245/C564264|C16.131.666.507/C564264|C16.320.400.780/C564264|C18.452.104.579/C564264|C23.550.393/C564264|C23.888.592.604.646/C564264|F03.625.539/C564264 C05.116.198.579|C05.550.323|C05.651.197|C10.228.140.252.700|C10.228.854.787|C10.500.507|C10.574.500.825|C10.597.606.360|C11.510.245|C16.131.666.507|C16.320.400.780|C18.452.104.579|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Growth Hormone Deficiency With Pituitary Anomalies MESH:C567632 MESH:D025962 C10.292.562.700.375.875/C567632|C10.500.034.937/C567632|C10.500.760.500/C567632|C11.590.436.400.875/C567632|C16.131.666.034.937/C567632|C16.131.666.763.500/C567632 C10.292.562.700.375.875|C10.500.034.937|C10.500.760.500|C11.590.436.400.875|C16.131.666.034.937|C16.131.666.763.500 Pituitary Hormone Deficiency, Combined, 5 Congenital abnormality|Eye disease|Nervous system disease Growth hormone excess MESH:C531600 MESH:D000172 C05.116.132.082/C531600|C10.228.140.617.738.250.100/C531600|C19.700.355.179/C531600 C05.116.132.082|C10.228.140.617.738.250.100|C19.700.355.179 Endocrine system disease|Musculoskeletal disease|Nervous system disease Growth Hormone-Secreting Pituitary Adenoma MESH:D049912 DO:DOID:6255|OMIM:300943 A pituitary tumor that secretes GROWTH HORMONE. In humans, excess HUMAN GROWTH HORMONE leads to ACROMEGALY. MESH:D000236|MESH:D010911 C04.557.470.035.415|C04.588.322.609.292|C10.228.140.617.738.675.299|C19.344.609.292|C19.700.734.292 C04.557.470.035|C04.588.322.609|C10.228.140.617.738.675|C19.344.609|C19.700.734 Acromegaly Due To Pituitary Adenoma|ACROMEGALY DUE TO PITUITARY ADENOMA 2|ACROMEGALY, X-LINKED|Adenoma, Somatotroph|Adenomas, Somatotroph|GH Secreting Pituitary Adenoma|GH-Secreting Pituitary Adenoma|GH-Secreting Pituitary Adenomas|Isolated Familial Somatotropinoma|PITA2|PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING|Pituitary Adenoma, GH Secreting|Pituitary Adenoma, GH-Secreting|Pituitary Adenoma, Growth Hormone Secreting|Pituitary Adenoma, Growth Hormone-Secreting|Pituitary Adenomas, GH-Secreting|Pituitary Growth Hormone Secreting Adenoma|Pituitary Growth Hormone-Secreting Adenoma|Somatotroph Adenoma|Somatotroph Adenomas|Somatotrophinoma, Familial|Somatotropinoma, Familial Isolated Cancer|Endocrine system disease|Nervous system disease Growth mental deficiency syndrome of Myhre MESH:C537620 OMIM:139210 MESH:D003456|MESH:D006130|MESH:D006228|MESH:D008607|MESH:D019066 C05.390.408/C537620|C05.660.585.988.425/C537620|C10.597.606.360/C537620|C12.100.500.829.258/C537620|C12.200.294.829.258/C537620|C12.200.706.258/C537620|C12.800.258/C537620|C16.131.621.585.988.500/C537620|C16.131.939.258/C537620|C19.391.829.258/C537620|C23.550.291.812/C537620|C23.550.393/C537620|C23.888.592.604.646/C537620|F03.625.539/C537620 C05.390.408|C05.660.585.988.425|C10.597.606.360|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C16.131.621.585.988.500|C16.131.939.258|C19.391.829.258|C23.550.291.812|C23.550.393|C23.888.592.604.646|F03.625.539 Growth-mental deficiency syndrome of Myhre|Laps Syndrome|Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature|Myhre syndrome|MYHRS Congenital abnormality|Endocrine system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (male) Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy MESH:C535642 OMIM:230740 MESH:D000505|MESH:D000848|MESH:D006130|MESH:D015418 C07.650.800.100/C535642|C07.793.700.100/C535642|C10.292.700.225.500/C535642|C10.574.500.662/C535642|C11.270.564/C535642|C11.640.451.451/C535642|C16.131.850.800.100/C535642|C16.320.290.564/C535642|C16.320.400.630/C535642|C17.800.329.937.122/C535642|C23.300.035/C535642|C23.550.393/C535642 C07.650.800.100|C07.793.700.100|C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.131.850.800.100|C16.320.290.564|C16.320.400.630|C17.800.329.937.122|C23.300.035|C23.550.393 GAPOS|Gapo Syndrome|Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy|Odontotrichomelic Syndrome|Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Skin disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death MESH:C567856 OMIM:612938 MESH:D000015|MESH:D002658|MESH:D004392|MESH:D005183|MESH:D019066 C05.116.099.343/C567856|C16.131.077/C567856|C16.320.240/C567856|C19.297/C567856|C23.550.291.812/C567856|C23.888.338/C567856|F03.625.421/C567856 C05.116.099.343|C16.131.077|C16.320.240|C19.297|C23.550.291.812|C23.888.338|F03.625.421 GDFD|GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Pathology (process)|Signs and symptoms GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY OMIM:617093 MESH:D006130|MESH:D008107|MESH:D008607|MESH:D009123 C06.552/617093|C10.597.606.360/617093|C10.597.613.575/617093|C23.550.393/617093|C23.888.592.604.646/617093|C23.888.592.608.575/617093|F03.625.539/617093 C06.552|C10.597.606.360|C10.597.613.575|C23.550.393|C23.888.592.604.646|C23.888.592.608.575|F03.625.539 GRIDHH Digestive system disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Growth Retardation, Small and Puffy Hands and Feet, and Eczema MESH:C565528 MESH:D004485|MESH:D005532|MESH:D006130|MESH:D006228|MESH:D011596 C05.330.495/C565528|C05.390.408/C565528|C05.660.585.512.380/C565528|C05.660.585.988.425/C565528|C10.597.606.881/C565528|C16.131.621.585.512.500/C565528|C16.131.621.585.988.500/C565528|C17.800.174.620/C565528|C17.800.815.620/C565528|C23.550.393/C565528|C23.888.592.604.882/C565528 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C10.597.606.881|C16.131.621.585.512.500|C16.131.621.585.988.500|C17.800.174.620|C17.800.815.620|C23.550.393|C23.888.592.604.882 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Grubben de Cock Borghgraef syndrome MESH:C537621 MESH:D002658|MESH:D004485|MESH:D009123|MESH:D014071|MESH:D017880 C05.660.585/C537621|C07.650.800/C537621|C07.793.700/C537621|C10.597.613.575/C537621|C16.131.621.585/C537621|C16.131.850.800/C537621|C17.800.174.620/C537621|C17.800.815.620/C537621|C23.888.592.608.575/C537621|F03.625.421/C537621 C05.660.585|C07.650.800|C07.793.700|C10.597.613.575|C16.131.621.585|C16.131.850.800|C17.800.174.620|C17.800.815.620|C23.888.592.608.575|F03.625.421 Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease GSD IV, Classic Hepatic MESH:C565539 MESH:D006011 C16.320.565.202.449.540/C565539|C18.452.648.202.449.540/C565539 C16.320.565.202.449.540|C18.452.648.202.449.540 Genetic disease (inborn)|Metabolic disease GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy MESH:C565544 MESH:D006011|MESH:D009468 C10.668/C565544|C16.320.565.202.449.540/C565544|C18.452.648.202.449.540/C565544 C10.668|C16.320.565.202.449.540|C18.452.648.202.449.540 Genetic disease (inborn)|Metabolic disease|Nervous system disease GSD IV, Neuromuscular Form, Childhood MESH:C565543 MESH:D006011|MESH:D009468 C10.668/C565543|C16.320.565.202.449.540/C565543|C18.452.648.202.449.540/C565543 C10.668|C16.320.565.202.449.540|C18.452.648.202.449.540 Genetic disease (inborn)|Metabolic disease|Nervous system disease GSD IV, Neuromuscular Form, Congenital MESH:C565542 MESH:D006011|MESH:D009468 C10.668/C565542|C16.320.565.202.449.540/C565542|C18.452.648.202.449.540/C565542 C10.668|C16.320.565.202.449.540|C18.452.648.202.449.540 Genetic disease (inborn)|Metabolic disease|Nervous system disease GSD IV, Neuromuscular Form, Fatal Perinatal MESH:C565541 MESH:D006011|MESH:D009468 C10.668/C565541|C16.320.565.202.449.540/C565541|C18.452.648.202.449.540/C565541 C10.668|C16.320.565.202.449.540|C18.452.648.202.449.540 Genetic disease (inborn)|Metabolic disease|Nervous system disease GSD IV, Nonprogressive Hepatic MESH:C565540 MESH:D006011|MESH:D008107 C06.552/C565540|C16.320.565.202.449.540/C565540|C18.452.648.202.449.540/C565540 C06.552|C16.320.565.202.449.540|C18.452.648.202.449.540 Digestive system disease|Genetic disease (inborn)|Metabolic disease Guanidinoacetate methyltransferase deficiency MESH:C537622 DO:DOID:0050799|OMIM:612736 MESH:D007805|MESH:D009069 C10.228.662/C537622|C10.597.606.150.500.550/C537622|C23.888.592.604.150.500.550/C537622 C10.228.662|C10.597.606.150.500.550|C23.888.592.604.150.500.550 CCDS2|CEREBRAL CREATINE DEFICIENCY SYNDROME 2|Creatine Deficiency Syndrome Due To Gamt Deficiency|GAMT Deficiency|GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Nervous system disease|Signs and symptoms Guillain-Barre Syndrome MESH:D020275 DO:DOID:12842|OMIM:139393 An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314) MESH:D000094025|MESH:D011129 C10.114.750.100|C10.314.750.450|C10.668.829.800.750.300|C20.111.258.750.400|C23.550.291.500.829.313 C10.114.750|C10.314.750|C10.668.829.800.750|C20.111.258.750|C23.550.291.500.829 Acute Autoimmune Neuropathies|Acute Autoimmune Neuropathy|Acute Infectious Polyneuritis|Acute Inflammatory Demyelinating Polyneuropathy|Acute Inflammatory Demyelinating Polyradiculoneuropathy|Acute Inflammatory Polyneuropathies|Acute Inflammatory Polyneuropathy|Acute Inflammatory Polyradiculoneuropathies|Acute Inflammatory Polyradiculoneuropathy|Autoimmune Neuropathies, Acute|Autoimmune Neuropathy, Acute|CIDP, INCLUDED|Demyelinating Polyradiculoneuropathy, Acute Inflammatory|Familial Guillain-Barre Syndrome|Familial Guillain-Barre Syndromes|GBS|Guillain Barre Syndrome|Guillain Barré Syndrome|Guillain-Barré Syndrome|Guillain Barre Syndrome, Familial|Guillain-Barre Syndrome, Familial|Guillain-Barré Syndromes|Guillain-Barre Syndromes, Familial|Guillaine Barre Syndrome|Guillaine-Barre Syndrome|Infectious Polyneuritis, Acute|Inflammatory Demyelinating Polyradiculoneuropathy, Acute|Inflammatory Polyneuropathies, Acute|Inflammatory Polyneuropathy Acute|Inflammatory Polyneuropathy, Acute|Inflammatory Polyradiculoneuropathies, Acute|Landry Guillain Barre Syndrome|Landry-Guillain-Barre Syndrome|Neuropathy, Acute Autoimmune|Polyneuritis, Acute Infectious|Polyneuropathy Acute, Inflammatory|Polyneuropathy, Acute Inflammatory|Polyneuropathy, Inflammatory Demyelinating, Acute|POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, ACUTE;AIDP POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC, INCLUDED|Polyradiculoneuropathies, Acute Inflammatory|Polyradiculoneuropathy, Acute Inflammatory|Polyradiculoneuropathy, Acute Inflammatory Demyelinating|Syndrome, Familial Guillain-Barre|Syndrome, Guillain-Barre|Syndrome, Guillain-Barré|Syndrome, Guillaine-Barre|Syndrome, Landry-Guillain-Barre Immune system disease|Nervous system disease|Pathology (process) Gurrieri Sammito Bellussi syndrome MESH:C537625 MESH:D001848|MESH:D004827|MESH:D008607 C05.116.099/C537625|C10.228.140.490/C537625|C10.597.606.360/C537625|C23.888.592.604.646/C537625|F03.625.539/C537625 C05.116.099|C10.228.140.490|C10.597.606.360|C23.888.592.604.646|F03.625.539 Gurrieri syndrome|Skeletal dysplasia epilepsy short stature Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Gynatresia MESH:D006175 DO:DOID:429 Absence of a normal opening in the lumen of the female genital tract, from the FALLOPIAN TUBES to the VAGINA. This anomaly may be congenital or acquired due to injuries, diseases, or TISSUE ADHESIONS. MESH:D005831 C12.050.351.500.320|C12.100.250.320 C12.050.351.500|C12.100.250 Asherman's Syndrome|Ashermans Syndrome|Asherman Syndrome|Gynatresias|Intrauterine Synechiae|Syndrome, Asherman|Syndrome, Asherman's|Synechiae, Intrauterine|Synechiae, Uterine|Uterine Synechiae Urogenital disease (female) Gynecomastia MESH:D006177 DO:DOID:11603|DO:DOID:12698 Enlargement of the BREAST in the males, caused by an excess of ESTROGENS. Physiological gynecomastia is normally observed in NEWBORNS; ADOLESCENT; and AGING males. MESH:D001941 C17.800.090.875 C17.800.090 Adolescent Gynecomastia|Breast Enlargement, Male|Enlargement, Male Breast|Gynecomastia, Adolescent|Gynecomastia, Infant|Gynecomastia, Newborn|Infant Gynecomastia|Male Breast Enlargement|Newborn Gynecomastia Skin disease Gynecomastia, Familial MESH:C564416 MESH:D006177 C17.800.090.875/C564416 C17.800.090.875 Skin disease Gyrate Atrophy MESH:D015799 DO:DOID:1415|OMIM:258870 Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood. MESH:D015785|MESH:D015862 C11.270.468|C11.941.160.578|C16.320.290.468 C11.270|C11.941.160|C16.320.290 Atrophy, Gyrate|Deficiency, OAT|Deficiency, OKT|Deficiency, Ornithine Aminotransferase|Deficiency, Ornithine-Delta-Aminotransferase|GACR|GYRATE ATROPHY|Gyrate Atrophy of Choroid and Retina|Gyrate Atrophy of the Choroid and Retina|HOGA|Hyperornithinemia with Gyrate Atrophy of Choroid and Retina|OAT Deficiency|OKT Deficiency|Ornithine Aminotransferase Deficiency|Ornithine Delta Aminotransferase Deficiency|Ornithine-Delta-Aminotransferase Deficiency|Ornithine Ketoacid Aminotransferase Deficiency|Ornithine Keto Acid Aminotransferase Deficiency|Ornithinemia with Gyrate Atrophy Eye disease|Genetic disease (inborn) Hadziselimovic Syndrome MESH:C567850 MESH:D000015|MESH:D004392|MESH:D008831|MESH:D019066 C05.116.099.343/C567850|C05.660.207.620/C567850|C10.500.507.400.500/C567850|C16.131.077/C567850|C16.131.621.207.620/C567850|C16.131.666.507.400.500/C567850|C16.320.240/C567850|C19.297/C567850|C23.550.291.812/C567850 C05.116.099.343|C05.660.207.620|C10.500.507.400.500|C16.131.077|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.240|C19.297|C23.550.291.812 Microcephaly-Faciocardioskeletal Syndrome Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process) Haemonchiasis MESH:D006188 DO:DOID:3332 Infection with nematodes of the genus HAEMONCHUS, characterized by digestive abnormalities and anemia similar to that from hookworm infestation. MESH:D014252 C01.610.335.508.700.775.825.400 C01.610.335.508.700.775.825 Haemonchiases Parasitic disease Haemophilus Infections MESH:D006192 Infections with bacteria of the genus HAEMOPHILUS. MESH:D016871 C01.150.252.400.700.433 C01.150.252.400.700 Haemophilus Infection|Haemophilus influenzae Infection|Haemophilus influenzae Infections|Haemophilus influenzae Type b Infection|Hemophilus Infection|Hemophilus Infections|Hib Infection|Hib Infections|Infection, Haemophilus|Infection, Haemophilus influenzae|Infection, Hemophilus|Infection, Hib|Infections, Haemophilus|Infections, Hemophilus Bacterial infection or mycosis Hagemoser Weinstein Bresnick syndrome MESH:C537626 MESH:D006312|MESH:D015417|MESH:D015418 C09.218.458.341.374/C537626|C10.292.700.225.500/C537626|C10.500.300/C537626|C10.574.500.495/C537626|C10.574.500.662/C537626|C10.597.751.418.341.374/C537626|C10.668.829.800.300/C537626|C11.270.564/C537626|C11.640.451.451/C537626|C16.131.666.300/C537626|C16.320.290.564/C537626|C16.320.400.375/C537626|C16.320.400.630/C537626|C23.888.592.763.393.341.374/C537626 C09.218.458.341.374|C10.292.700.225.500|C10.500.300|C10.574.500.495|C10.574.500.662|C10.597.751.418.341.374|C10.668.829.800.300|C11.270.564|C11.640.451.451|C16.131.666.300|C16.320.290.564|C16.320.400.375|C16.320.400.630|C23.888.592.763.393.341.374 Optic atrophy, deafness and peripheral neuropathy|Optic atrophy, hearing loss and peripheral neuropathy Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms HAIR-AN syndrome MESH:C537629 MESH:D000052|MESH:D007333|MESH:D017588 C12.050.351.875.253.064.500/C537629|C12.050.351.875.253.090.750/C537629|C12.200.706.316.064.500/C537629|C12.200.706.316.090.750/C537629|C12.800.316.064.500/C537629|C12.800.316.090.750/C537629|C16.131.939.316.064.500/C537629|C16.131.939.316.129.750/C537629|C17.800.621.430.530.100/C537629|C18.452.394.968.500/C537629|C19.391.119.064.500/C537629|C19.391.119.090.750/C537629 C12.050.351.875.253.064.500|C12.050.351.875.253.090.750|C12.200.706.316.064.500|C12.200.706.316.090.750|C12.800.316.064.500|C12.800.316.090.750|C16.131.939.316.064.500|C16.131.939.316.129.750|C17.800.621.430.530.100|C18.452.394.968.500|C19.391.119.064.500|C19.391.119.090.750 Hyperandrogenic, insulin-resistant acanthosis nigricans syndrome|Hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN) Congenital abnormality|Endocrine system disease|Metabolic disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) Hair defect with photosensitivity and mental retardation MESH:C537628 MESH:D007706|MESH:D008607|MESH:D010787 C10.228.140.163.100.540/C537628|C10.597.606.360.455.687/C537628|C10.597.606.360/C537628|C16.320.322.500.687/C537628|C16.320.400.525.687/C537628|C16.320.565.189.540/C537628|C16.320.565.618.590/C537628|C17.800.329.968/C537628|C17.800.600/C537628|C18.452.132.100.540/C537628|C18.452.648.189.540/C537628|C18.452.648.618.590/C537628|C23.888.592.604.646/C537628|F03.625.539/C537628 C10.228.140.163.100.540|C10.597.606.360|C10.597.606.360.455.687|C16.320.322.500.687|C16.320.400.525.687|C16.320.565.189.540|C16.320.565.618.590|C17.800.329.968|C17.800.600|C18.452.132.100.540|C18.452.648.189.540|C18.452.648.618.590|C23.888.592.604.646|F03.625.539 Calderon Gonzalez-Cantu syndrome|Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease Hair Diseases MESH:D006201 DO:DOID:421 Diseases affecting the orderly growth and persistence of hair. MESH:D012871 C17.800.329 C17.800 Hair Disease Skin disease Hairy Ears MESH:C562484 MESH:D006983 C17.800.329.875/C562484 C17.800.329.875 Hypertrichosis Pinnae Auris Skin disease Hairy Ears, Y-Linked MESH:C564029 OMIM:425500 MESH:D006983|MESH:D050174 C16.320.338/C564029|C17.800.329.875/C564029 C16.320.338|C17.800.329.875 Hypertrichosis Pinnae Auris, Y-Linked Genetic disease (inborn)|Skin disease Hairy elbows MESH:C535618 MESH:D006130|MESH:D006983 C17.800.329.875/C535618|C23.550.393/C535618 C17.800.329.875|C23.550.393 Hypertrichosis cubiti|Hypertrichosis cubiti short stature|MacDermot Patton Williams syndrome Pathology (process)|Skin disease Hairy nose tip MESH:C535619 MESH:D006983 C17.800.329.875/C535619 C17.800.329.875 Skin disease Hairy palms and soles MESH:C535620 MESH:D005532|MESH:D006201|MESH:D006228|MESH:D012868 C05.330.495/C535620|C05.390.408/C535620|C05.660.585.512.380/C535620|C05.660.585.988.425/C535620|C16.131.621.585.512.500/C535620|C16.131.621.585.988.500/C535620|C16.131.831/C535620|C17.800.329/C535620|C17.800.804/C535620 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.131.831|C17.800.329|C17.800.804 Circumscribed hairy dysembryoplasia of palms|Hairy cutaneous malformations of palms and soles|Thickened hair-bearing skin on the palms of both hands Congenital abnormality|Musculoskeletal disease|Skin disease Hajdu-Cheney Syndrome MESH:D031845 DO:DOID:2736|OMIM:102500 Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations. MESH:D009139|MESH:D030342|MESH:D030981 C05.116.099.052.400|C05.116.264.579.052.400|C16.131.621.445|C16.320.355 C05.116.099.052|C05.116.264.579.052|C16.131.621|C16.320 Acroosteolysis with Osteoporosis and Changes in Skull and Mandible|Arthrodentoosteodysplasia|Arthrodentoosteodysplasias|Cheney Syndrome|Hajdu Cheney Syndrome|HJCYS|Multicentric Osteolyses|Multicentric Osteolysis|Osteolyses, Multicentric|Osteolysis, Multicentric|SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME|SFPKS Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Halal Setton Wang syndrome MESH:C535621 MESH:D004476 C16.131.077.350/C535621|C16.131.831.350/C535621|C16.320.850.250/C535621|C17.800.804.350/C535621|C17.800.827.250/C535621 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Hidrotic ectodermal dysplasia Halal type Congenital abnormality|Genetic disease (inborn)|Skin disease Halal syndrome MESH:C535622 MESH:D000015|MESH:D002972|MESH:D008831 C05.500.460.185/C535622|C05.660.207.540.460.185/C535622|C05.660.207.620/C535622|C07.320.440.185/C535622|C07.465.525.185/C535622|C07.650.500.460.185/C535622|C07.650.525.185/C535622|C10.500.507.400.500/C535622|C16.131.077/C535622|C16.131.621.207.540.460.185/C535622|C16.131.621.207.620/C535622|C16.131.666.507.400.500/C535622|C16.131.850.500.460.185/C535622|C16.131.850.525.185/C535622 C05.500.460.185|C05.660.207.540.460.185|C05.660.207.620|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.500.507.400.500|C16.131.077|C16.131.621.207.540.460.185|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.850.500.460.185|C16.131.850.525.185 Microcephaly cleft palate autosomal dominant Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease Halitosis MESH:D006209 An offensive, foul breath odor resulting from a variety of causes such as poor oral hygiene, dental or oral infections, or the ingestion of certain foods. MESH:D012817 C23.888.821.475 C23.888.821 Halitoses Signs and symptoms Hallermann's Syndrome MESH:D006210 DO:DOID:4534|OMIM:234100 An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia. (Dorland, 27th ed) MESH:D003394 C05.116.099.370.231.427|C05.660.207.231.427|C16.131.621.207.231.427 C05.116.099.370.231|C05.660.207.231|C16.131.621.207.231 Dyscephalic Syndrome, Francois|Dyscephalic Syndromes, Francois|Francois Dyscephalic Syndrome|Francois Dyscephalic Syndromes|Hallermanns Syndrome|Hallermann Streiff Francois Syndrome|Hallermann Streiff Syndrome|Hallermann-Streiff Syndrome|Hallermann Syndrome|HSS|Syndrome, Francois Dyscephalic|Syndrome, Hallermann's|Syndrome, Hallermann-Streiff|Syndromes, Francois Dyscephalic Congenital abnormality|Musculoskeletal disease Hall Riggs mental retardation syndrome MESH:C535623 MESH:D001848|MESH:D008607|MESH:D019465 C05.116.099/C535623|C05.660.207/C535623|C10.597.606.360/C535623|C16.131.621.207/C535623|C23.888.592.604.646/C535623|F03.625.539/C535623 C05.116.099|C05.660.207|C10.597.606.360|C16.131.621.207|C23.888.592.604.646|F03.625.539 Hall-Riggs Mental Retardation Syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Hallucinations MESH:D006212 Subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real. They may be of organic origin or associated with MENTAL DISORDERS. MESH:D010468 C10.597.606.762.300|C23.888.592.604.764.300 C10.597.606.762|C23.888.592.604.764 Auditory Hallucination|Auditory Hallucinations|Auditory Hallucinations, Verbal|Auditory Hallucination, Verbal|Body Sensation Hallucination|Body Sensation Hallucinations|Dissociative Hallucination|Dissociative Hallucinations|Elementary Hallucination|Elementary Hallucinations|Gustatory Hallucination|Gustatory Hallucinations|Hallucination|Hallucination, Auditory|Hallucination, Dissociative|Hallucination, Elementary|Hallucination, Gustatory|Hallucination, Hypnagogic|Hallucination, Hypnapompic|Hallucination, Kinesthetic|Hallucination, Mood Congruent|Hallucination, Mood Incongruent|Hallucination of Body Sensation|Hallucination, Olfactory|Hallucination, Organic|Hallucination, Reflex|Hallucinations, Auditory|Hallucinations, Dissociative|Hallucinations, Elementary|Hallucination, Sensory|Hallucinations, Formed, of People|Hallucinations, Gustatory|Hallucinations, Hypnagogic|Hallucinations, Hypnapompic|Hallucinations, Internal Body Sensation|Hallucinations, Kinesthetic|Hallucinations, Mood Congruent|Hallucinations, Mood Incongruent|Hallucinations, Olfactory|Hallucination, Somatic|Hallucinations, Organic|Hallucinations, Reflex|Hallucinations, Sensory|Hallucinations, Somatic|Hallucinations, Tactile|Hallucinations, Verbal Auditory|Hallucinations, Visual|Hallucinations, Visual, Formed|Hallucinations, Visual, Unformed|Hallucination, Tactile|Hallucination, Verbal Auditory|Hallucination, Visual|Hypnagogic Hallucination|Hypnagogic Hallucinations|Hypnapompic Hallucination|Hypnapompic Hallucinations|Kinesthetic Hallucination|Kinesthetic Hallucinations|Mood Congruent Hallucination|Mood Congruent Hallucinations|Mood Incongruent Hallucination|Mood Incongruent Hallucinations|Olfactory Hallucination|Olfactory Hallucinations|Organic Hallucination|Organic Hallucinations|Reflex Hallucination|Reflex Hallucinations|Sensory Hallucination|Sensory Hallucinations|Somatic Hallucination|Somatic Hallucinations|Tactile Hallucination|Tactile Hallucinations|Verbal Auditory Hallucination|Verbal Auditory Hallucinations|Visual Hallucination|Visual Hallucinations Nervous system disease|Signs and symptoms Hallux Limitus MESH:D020857 A bony proliferation and articular degeneration of the first METATARSOPHALANGEAL JOINT that is characterized by pain and a progressive decrease in the dorsiflexion range of motion. MESH:D005531|MESH:D007592|MESH:D018409 C05.330.488.300|C05.550.445|C26.558.300.500 C05.330.488|C05.550|C26.558.300 Limitus, Hallux Musculoskeletal disease|Wounds and injuries Hallux Rigidus MESH:D020859 A condition caused by degenerative arthritis (see OSTEOARTHRITIS) of the METATARSOPHALANGEAL JOINT of the great toe and characterized by pain and limited dorsiflexion, but relatively unrestricted plantar flexion. MESH:D005531|MESH:D007592 C05.330.488.310|C05.550.450 C05.330.488|C05.550 Rigidus, Hallux Musculoskeletal disease Hallux Valgus MESH:D006215 Lateral displacement of the great toe (HALLUX), producing deformity of the first METATARSOPHALANGEAL JOINT with callous, bursa, or BUNION formation over the bony prominence. MESH:D005530 C05.330.610 C05.330 Hallux Abductovalgus Musculoskeletal disease Hallux Varus MESH:D050488 Displacement of the great toe (HALLUX) towards the midline or away from the other TOES. It can be congenital or acquired. MESH:D005530 C05.330.612 C05.330 Metatarsus Primus Varus Musculoskeletal disease Halothane Hepatitis MESH:C562477 MESH:D056486 C06.552.100/C562477|C25.100.562/C562477|C25.723.260/C562477 C06.552.100|C25.100.562|C25.723.260 Digestive system disease Hamanishi Ueba Tsuji syndrome MESH:C535624 MESH:D009477 C10.500.250/C535624|C10.574.500.493/C535624|C10.668.829.800.175/C535624|C16.131.666.310/C535624|C16.320.400.415/C535624 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy Congenital abnormality|Genetic disease (inborn)|Nervous system disease Hamano Tsukamoto syndrome MESH:C535625 MESH:D003711|MESH:D009886|MESH:D014897 C10.228.854.468.800/C535625|C10.292.562.750/C535625|C10.314/C535625|C10.574.500.812/C535625|C10.574.562.500.750/C535625|C10.597.622.447/C535625|C10.668.467.500.750/C535625|C11.590.472/C535625|C16.320.400.765/C535625|C23.888.592.636.447/C535625 C10.228.854.468.800|C10.292.562.750|C10.314|C10.574.500.812|C10.574.562.500.750|C10.597.622.447|C10.668.467.500.750|C11.590.472|C16.320.400.765|C23.888.592.636.447 Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Hamartoma MESH:D006222 A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area. MESH:D009369 C04.445 C04 Hamartomas Cancer Hamartoma, Precalcaneal Congenital Fibrolipomatous MESH:C565226 MESH:D006222 C04.445/C565226 C04.445 Precalcaneal congenital fibrolipomatous hamartoma Cancer Hamartoma Syndrome, Multiple MESH:D006223 DO:DOID:0050657|DO:DOID:6457|OMIM:158350|OMIM:601728 A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. MESH:D006222|MESH:D009378|MESH:D009386 C04.445.435|C04.651.435|C04.700.435|C16.320.700.435 C04.445|C04.651|C04.700|C16.320.700 Bannayan Riley Ruvalcaba Syndrome|Bannayan-Riley-Ruvalcaba Syndrome|Bannayan-Ruvalcaba-Riley Syndrome|Bannayan Zonana Syndrome|Bannayan-Zonana Syndrome|BBRS|BZS|CD|CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED|CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED|Cerebellum Dysplastic Gangliocytoma|Cerebellum Dysplastic Gangliocytomas|Cowden Disease|Cowden's Disease|Cowdens Disease|Cowden's Syndrome|Cowdens Syndrome|Cowden Syndrome|COWDEN SYNDROME 1|CPD6, INCLUDED|CS|CWS1|Dysplastic Gangliocytoma of Cerebellum|Dysplastic Gangliocytoma of the Cerebellum|DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED|Hamartoma Syndromes, Multiple|LDD, INCLUDED|Lhermitte Duclos Disease|Lhermitte-Duclos Disease|Macrocephaly, Multiple Lipomas, and Hemangiomata|MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA LHERMITTE-DUCLOS DISEASE, INCLUDED|Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas|Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata|MHAM|MMAC1|Multiple Hamartoma Syndrome|Multiple Hamartoma Syndromes|MUTATED IN MULTIPLE ADVANCED CANCERS 1|Myhre Riley Smith Syndrome|Myhre-Riley-Smith Syndrome|PHOSPHATASE AND TENSIN HOMOLOG|PHOSPHATASE AND TENSIN HOMOLOG DELETED ON CHROMOSOME 10|PHTS|PROTEUS-LIKE SYNDROME, INCLUDED|PTEN|PTEN1|PTEN Hamartoma Tumor Syndrome|PTEN HAMARTOMA TUMOR SYNDROME WITH GRANULAR CELL TUMOR|Riley Smith Syndrome|Riley-Smith Syndrome|RMSS|Ruvalcaba Myhre Smith Syndrome|Ruvalcaba-Myhre-Smith Syndrome|Ruvalcaba-Myhre Syndrome Cancer|Genetic disease (inborn) Hamman-Rich Syndrome MESH:D000080203 DO:DOID:2797 Acute idiopathic interstitial pneumonitis characterized by diffuse PULMONARY ALVEOLI damage with uniform edematous connective tissue proliferation. It is often associated with extensive fibroblastic distortion of the lung parenchyma and leads to ADULT RESPIRATORY DISTRESS SYNDROME in later stages. MESH:D054990 C08.381.483.652.500.500 C08.381.483.652.500 Acute Interstitial Pneumonia|Acute Interstitial Pneumonias|Acute Interstitial Pneumonitides|Acute Interstitial Pneumonitis|Hamman Rich Disease|Hamman-Rich Disease|Hamman Rich Syndrome|Interstitial Pneumonia, Acute|Interstitial Pneumonitis, Acute|Pneumonia, Acute Interstitial|Pneumonitis, Acute Interstitial Respiratory tract disease Hammer Toe Syndrome MESH:D037801 A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe. MESH:D005530 C05.330.615 C05.330 Clawtoe|Claw Toe|Clawtoes|Claw Toes|Hammer Toe|Hammer Toes|Hammertoe Syndrome|Mallet Toe|Mallet Toes|Toe, Claw|Toe, Hammer|Toe, Mallet|Toes, Claw|Toes, Hammer|Toes, Mallet Musculoskeletal disease Hand and foot deformity with flat facies MESH:C535626 MESH:D017880 C05.660.585/C535626|C16.131.621.585/C535626 C05.660.585|C16.131.621.585 Congenital abnormality|Musculoskeletal disease Hand-Arm Vibration Syndrome MESH:D053421 An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity. MESH:D009784|MESH:D010523|MESH:D014652 C10.668.829.380|C14.907.440|C24.400 C10.668.829|C14.907|C24 Hand Arm Vibration Syndrome|Hand-Arm Vibration Syndromes|Syndrome, Hand-Arm Vibration|Syndromes, Hand-Arm Vibration|Vibration Syndrome, Hand-Arm|Vibration Syndromes, Hand-Arm Cardiovascular disease|Nervous system disease|Occupational disease Hand Deformities MESH:D006226 Alterations or deviations from normal shape or size which result in a disfigurement of the hand. MESH:D009140 C05.390 C05 Deformities, Hand|Deformity, Hand|Hand Deformity Musculoskeletal disease Hand Deformities, Acquired MESH:D006227 Deformities of the hand, or a part of the hand, acquired after birth as the result of injury or disease. MESH:D006226 C05.390.110 C05.390 Acquired Hand Deformities|Acquired Hand Deformity|Deformities, Acquired Hand|Deformity, Acquired Hand|Hand Deformity, Acquired Musculoskeletal disease Hand Deformities, Congenital MESH:D006228 Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth. MESH:D006226|MESH:D038062 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 C05.390|C05.660.585.988|C16.131.621.585.988 Congenital Hand Deformities|Congenital Hand Deformity|Deformities, Congenital Hand|Deformity, Congenital Hand|Hand Deformity, Congenital Congenital abnormality|Musculoskeletal disease Hand Dermatoses MESH:D006229 DO:DOID:3158 Skin diseases involving the HANDS. MESH:D012871 C17.800.338 C17.800 Dermatoses, Hand|Dermatosis, Hand|Hand Dermatosis Skin disease Hand, Foot and Mouth Disease MESH:D006232 DO:DOID:10881 A mild, highly infectious viral disease of children, characterized by vesicular lesions in the mouth and on the hands and feet. It is caused by coxsackieviruses A. MESH:D003384 C01.925.782.687.359.213.331 C01.925.782.687.359.213 Hand Foot and Mouth Disease|Hand, Foot, and Mouth Disease|Hand, Foot, Mouth Disease Viral disease Hand-Foot Syndrome MESH:D060831 Chemotherapy-induced dermal side effects that are associated with the use of various CYTOSTATIC AGENTS. Symptoms range from mild ERYTHEMA and/or PARESTHESIA to severe ulcerative dermatitis with debilitating pain involving typically palmoplantar and intertriginous areas. These cutaneous manifestations are sometimes accompanied by nail anomalies. MESH:D003875 C17.800.174.600.587|C25.100.468.380.587 C17.800.174.600|C25.100.468.380 Acral Erythema, Chemotherapy-Induced|Acral Erythemas, Chemotherapy-Induced|Chemotherapy Induced Acral Erythema|Chemotherapy-Induced Acral Erythema|Chemotherapy-Induced Acral Erythemas|Chemotherapy Induced Palmoplantar Erythrodysesthesia|Chemotherapy-Induced Palmoplantar Erythrodysesthesia|Chemotherapy-Induced Palmoplantar Erythrodysesthesias|Hand Foot Syndrome|Hand-Foot Syndromes|Palmoplantar Erythrodysesthesia, Chemotherapy-Induced|Palmoplantar Erythrodysesthesias, Chemotherapy-Induced|Syndrome, Hand-Foot|Syndromes, Hand-Foot Skin disease Hand foot uterus syndrome MESH:C535627 OMIM:140000 MESH:D000015|MESH:D005532|MESH:D006228|MESH:D014564 C05.330.495/C535627|C05.390.408/C535627|C05.660.585.512.380/C535627|C05.660.585.988.425/C535627|C12.050.351.875/C535627|C12.200.706/C535627|C12.800/C535627|C16.131.077/C535627|C16.131.621.585.512.500/C535627|C16.131.621.585.988.500/C535627|C16.131.939/C535627 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C12.050.351.875|C12.200.706|C12.800|C16.131.077|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.131.939 Hand foot genital syndrome|Hand-Foot-Genital Syndrome|Hand-Foot-Uterus Syndrome|HFG|HFG Syndrome|HFU|HFU Syndrome Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Hand Injuries MESH:D006230 General or unspecified injuries to the hand. MESH:D014947 C26.448 C26 Hand Injury|Injuries, Hand|Injury, Hand Wounds and injuries Hanhart syndrome MESH:C535629 MESH:D000015|MESH:D017880|MESH:D019465 C05.660.207/C535629|C05.660.585/C535629|C16.131.077/C535629|C16.131.621.207/C535629|C16.131.621.585/C535629 C05.660.207|C05.660.585|C16.131.077|C16.131.621.207|C16.131.621.585 Oromandibular limb hypogenesis complex Congenital abnormality|Musculoskeletal disease Hantavirosis MESH:C535630 MESH:D006480 C01.925.782.147.420.400/C535630|C01.925.782.417.300/C535630 C01.925.782.147.420.400|C01.925.782.417.300 Hantavirus fever Viral disease Hantavirus Infections MESH:D018778 Infections with viruses of the genus ORTHOHANTAVIRUS. This is associated with at least four clinical syndromes: HEMORRHAGIC FEVER WITH RENAL SYNDROME caused by viruses of the Hantaan group; a milder form of HFRS caused by SEOUL VIRUS; nephropathia epidemica caused by PUUMALA VIRUS; and HANTAVIRUS PULMONARY SYNDROME caused by SIN NOMBRE VIRUS. MESH:D002044 C01.925.782.147.420 C01.925.782.147 Hantavirus Infection|Infections, Hantavirus|Infections, Orthohantavirus|Orthohantavirus Infection|Orthohantavirus Infections Viral disease Hantavirus Pulmonary Syndrome MESH:D018804 DO:DOID:14472 Acute respiratory illness in humans caused by the SIN NOMBRE VIRUS whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure. MESH:D012131|MESH:D018778 C01.925.782.147.420.380|C08.618.846.450 C01.925.782.147.420|C08.618.846 Hantavirus Associated Respiratory Distress Syndrome|Hantavirus-Associated Respiratory Distress Syndrome|Hantavirus Pulmonary Syndromes|HARDS Respiratory tract disease|Viral disease Hapnes Boman Skeie syndrome MESH:C536960 MESH:D000798|MESH:D008068|MESH:D012983 C04.588.839/C536960|C14.907.077/C536960|C17.800.463/C536960|C18.452.584.718/C536960 C04.588.839|C14.907.077|C17.800.463|C18.452.584.718 Tendons, Extensor, of Fingers, Anomalous Insertion of Cancer|Cardiovascular disease|Metabolic disease|Skin disease Happy puppet syndrome (formerly) MESH:C531619 MESH:D017204 C10.228.662.075/C531619|C16.131.077.095/C531619|C16.131.260.040/C531619|C16.320.180.040/C531619 C10.228.662.075|C16.131.077.095|C16.131.260.040|C16.320.180.040 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Harderoporphyria MESH:C562816 MESH:D046349 C06.552.830.074/C562816|C16.320.850.742.074/C562816|C17.800.827.742.074/C562816|C18.452.811.400.074/C562816 C06.552.830.074|C16.320.850.742.074|C17.800.827.742.074|C18.452.811.400.074 Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Hardikar syndrome MESH:C535632 MESH:D002779|MESH:D002972|MESH:D012174 C05.500.460.185/C535632|C05.660.207.540.460.185/C535632|C06.130.120.135/C535632|C07.320.440.185/C535632|C07.465.525.185/C535632|C07.650.500.460.185/C535632|C07.650.525.185/C535632|C11.270.684/C535632|C11.768.585.658.500/C535632|C16.131.621.207.540.460.185/C535632|C16.131.850.500.460.185/C535632|C16.131.850.525.185/C535632|C16.320.290.684/C535632 C05.500.460.185|C05.660.207.540.460.185|C06.130.120.135|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C11.270.684|C11.768.585.658.500|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.290.684 Cholestasis-pigmentary retinopathy-cleft palate syndrome Congenital abnormality|Digestive system disease|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Harding ataxia MESH:C535633 MESH:D002524 C10.228.140.252.190/C535633|C10.597.350.090.500/C535633|C23.888.592.350.090.200/C535633 C10.228.140.252.190|C10.597.350.090.500|C23.888.592.350.090.200 Ataxia, harding type|Cerebellar ataxia early onset with retained tendon reflex|Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes Nervous system disease|Signs and symptoms HAREL-YOON SYNDROME OMIM:617183 MESH:D008607|MESH:D010523|MESH:D011596 C10.597.606.360/617183|C10.597.606.881/617183|C10.668.829/617183|C23.888.592.604.646/617183|C23.888.592.604.882/617183|F03.625.539/617183 C10.597.606.360|C10.597.606.881|C10.668.829|C23.888.592.604.646|C23.888.592.604.882|F03.625.539 HAYOS Mental disorder|Nervous system disease|Signs and symptoms Harlequin syndrome MESH:C535634 MESH:D001342|MESH:D005483|MESH:D007007 C10.177/C535634|C17.800.946.370/C535634|C23.888.885.344/C535634 C10.177|C17.800.946.370|C23.888.885.344 Sudden onset of unilateral flushing and sweating|Unilateral loss of facial flushing and sweating with contralateral anhidrosis Nervous system disease|Signs and symptoms|Skin disease Harlequin type ichthyosis MESH:C538424 OMIM:242500 MESH:D017490 C16.131.831.512.400.410/C538424|C16.320.850.400.410/C538424|C16.614.492.400.410/C538424|C17.800.428.333.250.410/C538424|C17.800.804.512.400.410/C538424|C17.800.827.400.410/C538424 C16.131.831.512.400.410|C16.320.850.400.410|C16.614.492.400.410|C17.800.428.333.250.410|C17.800.804.512.400.410|C17.800.827.400.410 ARCI4B|'HARLEQUIN FETUS'|HARLEQUIN ICHTHYOSIS|HI|Ichthyosis congenita, Harlequin fetus type|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B|Ichthyosis, Harlequin type Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Harrod Doman Keele syndrome MESH:C535635 MESH:D000015|MESH:D008607|MESH:D019465 C05.660.207/C535635|C10.597.606.360/C535635|C16.131.077/C535635|C16.131.621.207/C535635|C23.888.592.604.646/C535635|F03.625.539/C535635 C05.660.207|C10.597.606.360|C16.131.077|C16.131.621.207|C23.888.592.604.646|F03.625.539 Craniofacial digital genital anomalies|Harrod syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Hartnup Disease MESH:D006250 DO:DOID:1060|OMIM:234500 An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19. MESH:D000608|MESH:D020157|MESH:D020739 C10.228.140.163.100.355|C12.050.351.968.419.815.885.625|C12.200.777.419.815.885.457|C12.950.419.815.885.625|C16.320.565.151.355|C16.320.565.189.355|C16.320.831.885.457|C18.452.132.100.355|C18.452.648.151.355|C18.452.648.189.355 C10.228.140.163.100|C12.050.351.968.419.815.885|C12.200.777.419.815.885|C12.950.419.815.885|C16.320.565.151|C16.320.565.189|C16.320.831.885|C18.452.132.100|C18.452.648.151|C18.452.648.189 Amino Acid Transport Disorder, Neutral|HARTNUP DISEASE|Hartnup Disorder|HND|Neutral Amino Acid Transport Defect|Neutral Amino Acid Transport Disorder|Transport Disorder, Neutral Amino Acid|Transport Disorder, Neutral Amino Acids Genetic disease (inborn)|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Hashimoto Disease MESH:D050031 OMIM:140300 Chronic autoimmune thyroiditis, characterized by the presence of high serum thyroid AUTOANTIBODIES; GOITER; and HYPOTHYROIDISM. MESH:D013967 C19.874.871.102.500 C19.874.871.102 Chronic Lymphocytic Thyroiditides|Chronic Lymphocytic Thyroiditis|Disease, Hashimoto|Disease, Hashimoto's|Hashimoto's Disease|Hashimotos Disease|Hashimoto's Struma|Hashimoto's Syndrome|Hashimotos Syndrome|Hashimoto's Syndromes|Hashimoto Struma|Hashimoto Syndrome|Hashimoto Thyroiditides|Hashimoto Thyroiditis|HT|HYPOTHYROIDISM, AUTOIMMUNE THYROID AUTOANTIBODIES, INCLUDED|Lymphocytic Thyroiditides, Chronic|Lymphocytic Thyroiditis, Chronic|Syndrome, Hashimoto's|Syndromes, Hashimoto's|Thyroiditides, Chronic Lymphocytic|Thyroiditides, Hashimoto|Thyroiditis, Chronic Lymphocytic|Thyroiditis, Hashimoto Endocrine system disease Hashimoto-Pritzker syndrome MESH:C535843 MESH:D006646 C08.381.483.375/C535843|C15.604.250.400/C535843 C08.381.483.375|C15.604.250.400 Hashimoto-Pritzker disease|Hashimoto-Pritzker histiocytosis Lymphatic disease|Respiratory tract disease Hashimoto's encephalitis MESH:C535841 MESH:D004660|MESH:D050031 C10.228.140.430/C535841|C10.586.250/C535841|C19.874.871.102.500/C535841 C10.228.140.430|C10.586.250|C19.874.871.102.500 Hashimoto's encephalopathy|Steroid-responsive encephalopathy associated with autoimmune thyroiditis Endocrine system disease|Nervous system disease Haspeslagh Fryns Muelenaere syndrome MESH:C535844 MESH:D008607|MESH:D011625|MESH:D019066|MESH:D019465 C05.660.207/C535844|C10.597.606.360/C535844|C11.187.781/C535844|C16.131.621.207/C535844|C23.550.291.812/C535844|C23.888.592.604.646/C535844|F03.625.539/C535844 C05.660.207|C10.597.606.360|C11.187.781|C16.131.621.207|C23.550.291.812|C23.888.592.604.646|F03.625.539 Distinctive craniofacial features with Pterygia and mental retardation|Haspeslagh syndrome|Mental retardation with pterygia, shortness and distinct facial appearance|Pterygia, Mental Retardation, And Distinctive Craniofacial Features Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Hawkinsinuria MESH:C535845 DO:DOID:0111362|OMIM:140350 MESH:D020176 C10.228.140.163.100.875/C535845|C16.320.565.100.880/C535845|C16.320.565.189.875/C535845|C18.452.132.100.875/C535845|C18.452.648.100.880/C535845|C18.452.648.189.875/C535845 C10.228.140.163.100.875|C16.320.565.100.880|C16.320.565.189.875|C18.452.132.100.875|C18.452.648.100.880|C18.452.648.189.875 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency|HWKS Genetic disease (inborn)|Metabolic disease|Nervous system disease Hay-Wells syndrome MESH:C535847 OMIM:106260 MESH:D002971|MESH:D002972|MESH:D004476|MESH:D005124 C05.500.460.185/C535847|C05.660.207.540.460.185/C535847|C07.320.440.185/C535847|C07.465.409.225/C535847|C07.465.525.164/C535847|C07.465.525.185/C535847|C07.650.500.460.185/C535847|C07.650.525.164/C535847|C07.650.525.185/C535847|C11.250/C535847|C16.131.077.350/C535847|C16.131.384/C535847|C16.131.621.207.540.460.185/C535847|C16.131.831.350/C535847|C16.131.850.500.460.185/C535847|C16.131.850.525.164/C535847|C16.131.850.525.185/C535847|C16.320.850.250/C535847|C17.800.804.350/C535847|C17.800.827.250/C535847 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C11.250|C16.131.077.350|C16.131.384|C16.131.621.207.540.460.185|C16.131.831.350|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.320.850.250|C17.800.804.350|C17.800.827.250 AEC|AEC SYNDROME|Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome|Ankyloblepharon-Ectodermal Defects-Cleft Lip-Cleft Palate|ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE|HAY-WELLS SYNDROME|Hay Wells Syndrome Dominant Form Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Hay Wells syndrome recessive type MESH:C535846 MESH:D002971|MESH:D002972|MESH:D004476 C05.500.460.185/C535846|C05.660.207.540.460.185/C535846|C07.320.440.185/C535846|C07.465.409.225/C535846|C07.465.525.164/C535846|C07.465.525.185/C535846|C07.650.500.460.185/C535846|C07.650.525.164/C535846|C07.650.525.185/C535846|C16.131.077.350/C535846|C16.131.621.207.540.460.185/C535846|C16.131.831.350/C535846|C16.131.850.500.460.185/C535846|C16.131.850.525.164/C535846|C16.131.850.525.185/C535846|C16.320.850.250/C535846|C17.800.804.350/C535846|C17.800.827.250/C535846 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.077.350|C16.131.621.207.540.460.185|C16.131.831.350|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.320.850.250|C17.800.804.350|C17.800.827.250 Ankyloblepharon, ectodermal defects, and cleft lip and palate and congenital adhesions between the upper and lower jaws (alveolar synechiae) Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Hb C disease MESH:C531699 MESH:D006445 C15.378.071.141.150.490/C531699|C15.378.420.463/C531699|C16.320.070.490/C531699|C16.320.365.463/C531699 C15.378.071.141.150.490|C15.378.420.463|C16.320.070.490|C16.320.365.463 Blood disease|Genetic disease (inborn) Hdl Deficiency, Type 2 MESH:C538394 MESH:D052456 C16.320.565.398.500.330/C538394|C18.452.584.500.875.330/C538394|C18.452.584.563.500.330/C538394|C18.452.648.398.500.330/C538394 C16.320.565.398.500.330|C18.452.584.500.875.330|C18.452.584.563.500.330|C18.452.648.398.500.330 Low Serum Hdl Cholesterol Genetic disease (inborn)|Metabolic disease Headache MESH:D006261 The symptom of PAIN in the cranial region. It may be an isolated benign occurrence or manifestation of a wide variety of HEADACHE DISORDERS. MESH:D010146 C23.888.592.612.441 C23.888.592.612 Bilateral Headache|Bilateral Headaches|Cephalalgia|Cephalalgias|Cephalgia|Cephalgias|Cephalodynia|Cephalodynias|Cranial Pain|Cranial Pains|Generalized Headache|Generalized Headaches|Headache, Bilateral|Headache, Generalized|Headache, Ocular|Headache, Orthostatic|Headache, Periorbital|Headache, Retro-Ocular|Headaches|Headaches, Bilateral|Headaches, Generalized|Headache, Sharp|Headaches, Ocular|Headaches, Orthostatic|Headaches, Periorbital|Headaches, Retro-Ocular|Headaches, Sharp|Headaches, Throbbing|Headaches, Unilateral|Headaches, Vertex|Headache, Throbbing|Headache, Unilateral|Headache, Vertex|Head Pain|Head Pains|Hemicrania|Ocular Headache|Ocular Headaches|Orthostatic Headache|Orthostatic Headaches|Pain, Cranial|Pain, Head|Pains, Cranial|Pains, Head|Periorbital Headache|Periorbital Headaches|Retro Ocular Headache|Retro-Ocular Headache|Retro-Ocular Headaches|Sharp Headache|Sharp Headaches|Throbbing Headache|Throbbing Headaches|Unilateral Headache|Unilateral Headaches|Vertex Headache|Vertex Headaches Signs and symptoms Headache Disorders MESH:D020773 Various conditions with the symptom of HEADACHE. Headache disorders are classified into major groups, such as PRIMARY HEADACHE DISORDERS (based on characteristics of their headache symptoms) and SECONDARY HEADACHE DISORDERS (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) MESH:D001927 C10.228.140.546 C10.228.140 Cephalgia Syndrome|Cephalgia Syndromes|Chronic Daily Headache|Chronic Daily Headaches|Chronic Headache|Chronic Headaches|Daily Headache, Chronic|Daily Headaches, Chronic|Headache, Chronic|Headache, Chronic Daily|Headache Disorder|Headache, Intractable|Headaches, Chronic|Headaches, Chronic Daily|Headaches, Intractable|Headache Syndrome|Headache Syndromes|Intractable Headache|Intractable Headaches|Syndrome, Headache Nervous system disease Headache Disorders, Primary MESH:D051270 Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes. MESH:D020773 C10.228.140.546.399 C10.228.140.546 Alarm Clock Headache|Alarm Clock Headaches|Benign Cough Headache|Benign Cough Headaches|Benign Exertional Headache|Benign Exertional Headaches|Clock Headache, Alarm|Clock Headaches, Alarm|Cough Headache|Cough Headache, Benign|Cough Headaches, Benign|Disorder, Primary Headache|Disorders, Primary Headache|Exertional Headache, Benign|Exertional Headaches, Benign|Headache, Alarm Clock|Headache, Benign Cough|Headache, Benign Exertional|Headache, Cough|Headache Disorder, Primary|Headache, Hypnic|Headache, Ice-Pick|Headache, Primary Cough|Headache, Primary Exertional|Headache, Primary Stabbing|Headache, Primary Thunderclap|Headaches, Alarm Clock|Headaches, Benign Cough|Headaches, Benign Exertional|Headaches, Ice-Pick|Headache, Stabbing|Headache Syndrome, Hypnic|Headache Syndromes, Hypnic|Headache, Thunderclap|Hypnic Headache|Hypnic Headache Syndrome|Hypnic Headache Syndromes|Ice Pick Headache|Ice-Pick Headache|Ice-Pick Headaches|Primary Cough Headache|Primary Exertional Headache|Primary Headache Disorder|Primary Headache Disorders|Primary Stabbing Headache|Primary Thunderclap Headache|Stabbing Headache|Thunderclap Headache Nervous system disease Headache Disorders, Secondary MESH:D051271 Conditions with HEADACHE symptom that can be attributed to a variety of causes including BRAIN VASCULAR DISORDERS; WOUNDS AND INJURIES; INFECTION; drug use or its withdrawal. MESH:D020773 C10.228.140.546.699 C10.228.140.546 Analgesic Overuse Headache|Analgesic Overuse Headaches|Analgesic Rebound Headache|Analgesic Rebound Headaches|Disorder, Secondary Headache|Disorders, Secondary Headache|Headache, Analgesic Overuse|Headache, Analgesic Rebound|Headache Disorder, Secondary|Headache, Medication Overuse|Headaches, Analgesic Overuse|Headaches, Analgesic Rebound|Headaches, Medication Overuse|Medication Overuse Headache|Medication Overuse Headaches|Overuse Headache, Medication|Overuse Headaches, Medication|Secondary Headache Disorder|Secondary Headache Disorders Nervous system disease Head and Neck Neoplasms MESH:D006258 DO:DOID:11934 Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651) MESH:D009371 C04.588.443 C04.588 Cancer, Head|Cancer, Neck|Cancer of Head|Cancer of Head and Neck|Cancer of Neck|Cancer of the Head|Cancer of the Head and Neck|Cancer of the Neck|Cancers, Head|Cancers, Neck|Head and Neck Cancer|Head and Neck Neoplasm|Head Cancer|Head Cancers|Head, Neck Neoplasms|Head Neoplasm|Head Neoplasms|Neck Cancer|Neck Cancers|Neck Neoplasm|Neck Neoplasms|Neoplasm, Head|Neoplasm, Neck|Neoplasms, Head|Neoplasms, Head and Neck|Neoplasms, Neck|Neoplasms, UADT|Neoplasms, Upper Aerodigestive Tract|Neoplasm, UADT|UADT Neoplasm|UADT Neoplasms|Upper Aerodigestive Tract Neoplasm|Upper Aerodigestive Tract Neoplasms Cancer Head Injuries, Closed MESH:D016489 Traumatic injuries to the cranium where the integrity of the skull is not compromised and no bone fragments or other objects penetrate the skull and DURA MATER. This frequently results in mechanical injury being transmitted to intracranial structures which may produce TRAUMATIC BRAIN INJURIES, hemorrhage, or CRANIAL NERVE INJURIES. (From Rowland, Merritt's Textbook of Neurology, 9th ed, p417) MESH:D006259|MESH:D014949 C10.900.300.350|C26.915.300.450|C26.974.382 C10.900.300|C26.915.300|C26.974 Blunt Head Injuries|Blunt Head Injury|Closed Head Injuries|Closed Head Injury|Closed Head Trauma|Closed Head Traumas|Head Injuries, Blunt|Head Injuries, Nonpenetrating|Head Injury, Blunt|Head Injury, Closed|Head Injury, Nonpenetrating|Head Trauma, Closed|Head Traumas, Closed|Injuries, Closed Head|Nonpenetrating Head Injuries|Nonpenetrating Head Injury Nervous system disease|Wounds and injuries Head Injuries, Penetrating MESH:D020197 Head injuries which feature compromise of the skull and dura mater. These may result from gunshot wounds (WOUNDS, GUNSHOT), stab wounds (WOUNDS, STAB), and other forms of trauma. MESH:D006259|MESH:D014950 C10.900.300.675|C26.915.300.475|C26.986.500 C10.900.300|C26.915.300|C26.986 Brain Injuries, Penetrating|Brain Injury, Penetrating|Cranial Trauma, Penetrating|Cranial Traumas, Penetrating|Craniocerebral Trauma, Penetrating|Craniocerebral Traumas, Penetrating|Head Injuries, Penetrating, Missile|Head Injury, Penetrating|Head Trauma, Penetrating|Head Traumas, Penetrating|Injuries, Penetrating Head|Injury, Penetrating Head|Missile Injuries, Penetrating, Head|Penetrating Brain Injuries|Penetrating Brain Injury|Penetrating Cranial Trauma|Penetrating Cranial Traumas|Penetrating Craniocerebral Trauma|Penetrating Craniocerebral Traumas|Penetrating Head Injuries|Penetrating Head Injury|Penetrating Head Trauma|Penetrating Head Traumas|Penetrating Missile Injuries, Head|Trauma, Penetrating Cranial|Trauma, Penetrating Craniocerebral|Trauma, Penetrating Head|Traumas, Penetrating Cranial|Traumas, Penetrating Craniocerebral|Traumas, Penetrating Head Nervous system disease|Wounds and injuries Healthcare-Associated Pneumonia MESH:D000077299 Infection of the lung often accompanied by inflammation that is acquired through an interaction within a healthcare institution often through a therapeutic experience (e.g., use of catheters or ventilators). MESH:D003428|MESH:D011014 C01.248.250|C01.748.610.300|C08.381.677.300|C08.730.610.300|C23.550.291.875.500.500 C01.248|C01.748.610|C08.381.677|C08.730.610|C23.550.291.875.500 Healthcare Associated Pneumonia|Healthcare-Associated Pneumonias|Hospital Acquired Pneumonia|Hospital Acquired Pneumonias|Nosocomial Pneumonia|Nosocomial Pneumonias|Pneumonia, Healthcare-Associated|Pneumonia, Hospital Acquired|Pneumonia, Nosocomial Pathology (process)|Respiratory tract disease Hearing Disorders MESH:D006311 Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways. MESH:D004427|MESH:D012678 C09.218.458|C10.597.751.418|C23.888.592.763.393 C09.218|C10.597.751|C23.888.592.763 Distorted Hearing|Dysacusis|Hearing Disorder|Hearing, Distorted|Paracousis|Paracusis Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hearing Loss MESH:D034381 A general term for the complete or partial loss of the ability to hear from one or both ears. MESH:D006311 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 C09.218.458|C10.597.751.418|C23.888.592.763.393 Deafnesses, Transitory|Deafness, Transitory|Hearing Impairment|Hearing Loss, Transitory|Hypoacuses|Hypoacusis|Loss, Hearing|Loss, Transitory Hearing|Transitory Deafness|Transitory Deafnesses|Transitory Hearing Loss|Transitory Hearing Losses Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hearing Loss, Bilateral MESH:D006312 Partial hearing loss in both ears. MESH:D034381 C09.218.458.341.374|C10.597.751.418.341.374|C23.888.592.763.393.341.374 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Bilateral Deafness|Bilateral, Deafness|Bilateral Hearing Loss|Bilateral Hearing Losses|Bilaterals, Deafness|Deafness Bilateral|Deafness, Bilateral|Deafness Bilaterals|Loss, Bilateral Hearing Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hearing Loss, Central MESH:D006313 Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss. MESH:D001304|MESH:D006319 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C23.888.592.763.393.341.887.432 C09.218.458.341.887|C09.218.807.186|C10.228.140.068|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Central Hearing Loss|Cortical Deafness|Deafness, Cortical Ear-nose-throat disease|Nervous system disease|Signs and symptoms HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO OMIM:613290 MESH:D034381 C09.218.458.341/613290|C10.597.751.418.341/613290|C23.888.592.763.393.341/613290 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 CIHL Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hearing Loss, Conductive MESH:D006314 Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES. MESH:D034381 C09.218.458.341.562|C10.597.751.418.341.562|C23.888.592.763.393.341.562 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Conductive Hearing Loss Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hearing Loss, Functional MESH:D006315 Hearing loss without a physical basis. Often observed in patients with psychological or behavioral disorders. MESH:D034381 C09.218.458.341.750|C10.597.751.418.341.750|C23.888.592.763.393.341.750 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Functional Hearing Loss|Hearing Loss, Nonorganic|Hearing Loss, Psychogenic|Nonorganic Hearing Loss|Psychogenic Hearing Loss Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hearing Loss, High-Frequency MESH:D006316 Hearing loss in frequencies above 1000 hertz. MESH:D034381 C09.218.458.341.812|C10.597.751.418.341.812|C23.888.592.763.393.341.812 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Hearing Loss, High Frequency|High-Frequency Hearing Loss Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hearing Loss, Mixed Conductive-Sensorineural MESH:D046089 Hearing loss due to damage or impairment of both the conductive elements (HEARING LOSS, CONDUCTIVE) and the sensorineural elements (HEARING LOSS, SENSORINEURAL) of the ear. MESH:D034381 C09.218.458.341.849|C10.597.751.418.341.849|C23.888.592.763.393.341.849 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Hearing Loss, Mixed|Hearing Loss, Mixed Conductive Sensorineural|Losses, Mixed Hearing|Loss, Mixed Hearing|Mixed Hearing Loss Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hearing Loss, Noise-Induced MESH:D006317 Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz. MESH:D006319 C09.218.458.341.887.460|C10.597.751.418.341.887.460|C23.888.592.763.393.341.887.460 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Acoustic Trauma|Hearing Loss, Noise Induced|Noise-Induced Hearing Loss Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hearing Loss, Sensorineural MESH:D006319 DO:DOID:10003 Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM. MESH:D034381 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Cochlear Hearing Loss|Deafnesses, Neurosensory|Deafnesses, Sensoryneural|Deafness Neurosensory|Deafness, Neurosensory|Deafness, Sensoryneural|Hearing Loss, Cochlear|Neurosensory Deafness|Neurosensory Deafnesses|Sensorineural Hearing Loss|Sensoryneural Deafness|Sensoryneural Deafnesses Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hearing Loss, Sudden MESH:D003639 Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning. MESH:D034381 C09.218.458.341.900|C10.597.751.418.341.900|C23.888.592.763.393.341.900 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Deafness, Sudden|Sudden Deafness|Sudden Hearing Loss Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hearing Loss, Unilateral MESH:D046088 Partial or complete hearing loss in one ear. MESH:D034381 C09.218.458.341.950|C10.597.751.418.341.950|C23.888.592.763.393.341.950 C09.218.458.341|C10.597.751.418.341|C23.888.592.763.393.341 Deafness Unilateral|Deafness, Unilateral|Unilateral Deafness|Unilateral, Deafness|Unilateral Hearing Loss Ear-nose-throat disease|Nervous system disease|Signs and symptoms HEART AND BRAIN MALFORMATION SYNDROME OMIM:616920 MESH:D006343|MESH:D008850|MESH:D009421|MESH:D011596 C10.500/616920|C10.597.606.881/616920|C11.250.566/616920|C14.240.400.560/616920|C14.280.400.560/616920|C16.131.240.400.560/616920|C16.131.384.666/616920|C16.131.666/616920|C23.888.592.604.882/616920 C10.500|C10.597.606.881|C11.250.566|C14.240.400.560|C14.280.400.560|C16.131.240.400.560|C16.131.384.666|C16.131.666|C23.888.592.604.882 HBMS|NEDHBM|NEURODEVELOPMENTAL DISORDER WITH HEART AND BRAIN MALFORMATIONS Cardiovascular disease|Congenital abnormality|Eye disease|Nervous system disease|Signs and symptoms Heart Aneurysm MESH:D006322 DO:DOID:9768 A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture. MESH:D000783|MESH:D006331 C14.280.358|C14.907.055.608 C14.280|C14.907.055 Aneurysm, Cardiac|Aneurysm, Heart|Aneurysms, Cardiac|Aneurysms, Heart|Cardiac Aneurysm|Cardiac Aneurysms|Heart Aneurysms Cardiovascular disease Heart Arrest MESH:D006323 DO:DOID:0060319 Cessation of heart beat or MYOCARDIAL CONTRACTION. If it is treated within a few minutes, heart arrest can be reversed in most cases to normal cardiac rhythm and effective circulation. MESH:D006331 C14.280.383 C14.280 Arrest, Cardiac|Arrest, Cardiopulmonary|Arrest, Heart|Asystole|Asystoles|Cardiac Arrest|Cardiopulmonary Arrest Cardiovascular disease Heart Block MESH:D006327 Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects. MESH:D000075224|MESH:D001145 C14.280.067.558|C14.280.123.500|C23.550.073.425 C14.280.067|C14.280.123|C23.550.073 Atrioventricular Dissociation|Atrioventricular Dissociations|Auriculo Ventricular Dissociation|Auriculo-Ventricular Dissociation|Auriculo-Ventricular Dissociations|A V Dissociation|A-V Dissociation|A-V Dissociations|Block, Heart|Blocks, Heart|Dissociation, Atrioventricular|Dissociation, Auriculo-Ventricular|Dissociation, A-V|Dissociations, Atrioventricular|Dissociations, Auriculo-Ventricular|Dissociations, A-V|Heart Blocks Cardiovascular disease|Pathology (process) Heart Block, Nonprogressive MESH:C566185 MESH:D006327 C14.280.067.558/C566185|C14.280.123.500/C566185|C23.550.073.425/C566185 C14.280.067.558|C14.280.123.500|C23.550.073.425 Cardiovascular disease|Pathology (process) Heartburn MESH:D006356 Substernal pain or burning sensation, usually associated with regurgitation of gastric juice into the esophagus. MESH:D012817 C23.888.821.525 C23.888.821 Pyroses|Pyrosis Signs and symptoms Heart Defects, Congenital MESH:D006330 DO:DOID:1682 Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. MESH:D006331|MESH:D018376 C14.240.400|C14.280.400|C16.131.240.400 C14.240|C14.280|C16.131.240 Abnormality, Heart|Congenital Heart Defect|Congenital Heart Defects|Congenital Heart Disease|Congenital Heart Diseases|Defect, Congenital Heart|Defects, Congenital Heart|Disease, Congenital Heart|Heart Abnormalities|Heart Abnormality|Heart Defect, Congenital|Heart Disease, Congenital|Heart, Malformation Of|Malformation Of Heart|Malformation Of Hearts Cardiovascular disease|Congenital abnormality HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES OMIM:600001 DO:DOID:0111733 MESH:D000013|MESH:D006330 C14.240.400/600001|C14.280.400/600001|C16.131.240.400/600001|C16.131/600001 C14.240.400|C14.280.400|C16.131|C16.131.240.400 HDCA|PACHD|PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS|PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE Cardiovascular disease|Congenital abnormality Heart defects limb shortening MESH:C535850 MESH:D000015|MESH:D006330|MESH:D017880 C05.660.585/C535850|C14.240.400/C535850|C14.280.400/C535850|C16.131.077/C535850|C16.131.240.400/C535850|C16.131.621.585/C535850 C05.660.585|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.585 Cardioskeletal syndrome, Kuwaiti type|Congenital heart disease and skeletal malformations Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Heart defect, tongue hamartoma and polysyndactyly MESH:C535849 DO:DOID:0111591 MESH:D006223 C04.445.435/C535849|C04.651.435/C535849|C04.700.435/C535849|C16.320.700.435/C535849 C04.445.435|C04.651.435|C04.700.435|C16.320.700.435 Ostravik lindemann solberg syndrome Cancer|Genetic disease (inborn) Heart Diseases MESH:D006331 DO:DOID:114 Pathological conditions involving the HEART including its structural and functional abnormalities. MESH:D002318 C14.280 C14 Cardiac Disease|Cardiac Diseases|Cardiac Disorder|Cardiac Disorders|Heart Disease|Heart Disorder|Heart Disorders Cardiovascular disease Heart Failure MESH:D006333 DO:DOID:6000 A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION. MESH:D006331 C14.280.434 C14.280 Cardiac Failure|Congestive Heart Failure|Decompensation, Heart|Heart Decompensation|Heart Failure, Congestive|Heart Failure, Left Sided|Heart Failure, Left-Sided|Heart Failure, Right Sided|Heart Failure, Right-Sided|Left Sided Heart Failure|Left-Sided Heart Failure|Myocardial Failure|Right Sided Heart Failure|Right-Sided Heart Failure Cardiovascular disease Heart Failure, Diastolic MESH:D054144 DO:DOID:9775 Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling. MESH:D006333 C14.280.434.611 C14.280.434 Diastolic Heart Failure|Diastolic Heart Failures|Heart Failure, Normal Ejection Fraction|Heart Failure, Preserved Ejection Fraction Cardiovascular disease Heart Failure, Systolic MESH:D054143 DO:DOID:9651 Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying. MESH:D006333 C14.280.434.676 C14.280.434 Heart Failure, Reduced Ejection Fraction|Heart Failures, Systolic|Systolic Heart Failure|Systolic Heart Failures Cardiovascular disease Heart-hand syndrome, Slovenian type MESH:C535852 OMIM:610140 MESH:D000083083|MESH:D006228|MESH:D006330 C05.390.408/C535852|C05.660.585.988.425/C535852|C14.240.400/C535852|C14.280.400/C535852|C16.131.240.400/C535852|C16.131.621.585.988.500/C535852|C16.320.488/C535852 C05.390.408|C05.660.585.988.425|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.585.988.500|C16.320.488 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Heart-hand syndrome, Spanish type MESH:C535853 MESH:D006330|MESH:D059327 C05.660.585.262/C535853|C14.240.400/C535853|C14.280.400/C535853|C16.131.240.400/C535853|C16.131.621.585.262/C535853 C05.660.585.262|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.585.262 Brachydactyly and intraventricular conduction defect|Upper limb malformations and congenital cardiac anomalies Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Heart Injuries MESH:D006335 General or unspecified injuries to the heart. MESH:D013898 C26.891.375 C26.891 Cardiac Ruptures, Traumatic|Cardiac Rupture, Traumatic|Heart Injury|Heart Ruptures, Traumatic|Heart Rupture, Traumatic|Injuries, Heart|Injury, Heart|Ruptures, Traumatic Cardiac|Ruptures, Traumatic Heart|Rupture, Traumatic Cardiac|Rupture, Traumatic Heart|Traumatic Cardiac Rupture|Traumatic Cardiac Ruptures|Traumatic Heart Rupture|Traumatic Heart Ruptures Wounds and injuries Heart Murmurs MESH:D006337 Heart sounds caused by vibrations resulting from the flow of blood through the heart. Heart murmurs can be examined by HEART AUSCULTATION, and analyzed by their intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc). MESH:D012816 C23.888.447 C23.888 Cardiac Murmur|Cardiac Murmurs|Diastolic Murmur|Diastolic Murmurs|Heart Murmur|Innocent Murmur|Innocent Murmurs|Murmur, Cardiac|Murmur, Diastolic|Murmur, Heart|Murmur, Innocent|Murmurs, Cardiac|Murmurs, Diastolic|Murmurs, Heart|Murmurs, Innocent Signs and symptoms Heart Neoplasms MESH:D006338 DO:DOID:117 Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM. MESH:D006331|MESH:D013899 C04.588.894.309|C14.280.459 C04.588.894|C14.280 Cancer, Cardiac|Cancer, Heart|Cancers, Cardiac|Cancers, Heart|Carcinoma, Cardiac|Carcinomas, Cardiac|Cardiac Cancer|Cardiac Cancers|Cardiac Carcinoma|Cardiac Carcinomas|Cardiac Neoplasm|Cardiac Neoplasms|Cardiac Tumor|Cardiac Tumors|Heart Cancer|Heart Cancers|Heart Neoplasm|Heart Tumor|Heart Tumors|Intracavitary Tumors of the Heart|Myocardial Tumor (Rhabdomyomas and Fibromas)|Myocardial Tumors (Rhabdomyomas and Fibromas)|Neoplasm, Cardiac|Neoplasm, Heart|Neoplasms, Cardiac|Neoplasms, Heart|Primary Cardiac Tumors, Childhood|Tumor, Cardiac|Tumor, Heart|Tumor, Myocardial (Rhabdomyomas and Fibromas)|Tumors, Cardiac|Tumors, Heart|Tumors, Myocardial (Rhabdomyomas and Fibromas) Cancer|Cardiovascular disease Heart Rupture MESH:D006341 Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION). MESH:D006331 C14.280.470 C14.280 Cardiac Free Wall Rupture|Cardiac Rupture|Cardiac Ruptures|Free Wall Rupture, Heart|Heart Ruptures|Ventricular Free Wall Rupture Cardiovascular disease Heart Rupture, Post-Infarction MESH:D006342 Laceration or tearing of cardiac tissues appearing after MYOCARDIAL INFARCTION. MESH:D006341 C14.280.470.475 C14.280.470 Cardiac Rupture, Post Infarction|Cardiac Rupture, Post-Infarction|Cardiac Ruptures, Post-Infarction|Heart Rupture, Post Infarction|Heart Ruptures, Post-Infarction|Post-Infarction Cardiac Rupture|Post-Infarction Cardiac Ruptures|Post Infarction Heart Rupture|Post-Infarction Heart Rupture|Post-Infarction Heart Ruptures|Rupture, Post-Infarction Cardiac|Rupture, Post-Infarction Heart|Ruptures, Post-Infarction Cardiac|Ruptures, Post-Infarction Heart Cardiovascular disease Heart Septal Defects MESH:D006343 DO:DOID:1681 Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both. MESH:D006330 C14.240.400.560|C14.280.400.560|C16.131.240.400.560 C14.240.400|C14.280.400|C16.131.240.400 Cardiac Septal Defect|Cardiac Septal Defects|Defect, Cardiac Septal|Defect, Heart Septal|Defects, Cardiac Septal|Defects, Heart Septal|Heart Septal Defect|Septal Defect, Cardiac|Septal Defect, Heart|Septal Defects, Cardiac|Septal Defects, Heart Cardiovascular disease|Congenital abnormality Heart Septal Defects, Atrial MESH:D006344 DO:DOID:1882 Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects. MESH:D006343 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 C14.240.400.560|C14.280.400.560|C16.131.240.400.560 Atrial Septal Defect|Atrial Septal Defect Ostium Primum|Atrial Septal Defects|Defect, Atrial Septal|Ostium Primum Atrial Septal Defect|Ostium Primum, Persistent|Ostium Secundum Atrial Septal Defect|Persistent Ostium Primum|Primum, Persistent Ostium|Septal Defect, Atrial Cardiovascular disease|Congenital abnormality Heart Septal Defects, Ventricular MESH:D006345 DO:DOID:1657|OMIM:614429|OMIM:614431|OMIM:614432 Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. MESH:D006343 C14.240.400.560.540|C14.280.400.560.540|C16.131.240.400.560.540 C14.240.400.560|C14.280.400.560|C16.131.240.400.560 Defect, Intraventricular Septal|Defects, Intraventricular Septal|Defect, Ventricular Septal|Intraventricular Septal Defect|Intraventricular Septal Defects|Septal Defect, Intraventricular|Septal Defects, Intraventricular|Septal Defects, Ventricular|Septal Defect, Ventricular|Ventricular Septal Defect|VENTRICULAR SEPTAL DEFECT 1|VENTRICULAR SEPTAL DEFECT 2|VENTRICULAR SEPTAL DEFECT 3|Ventricular Septal Defects|VSD1|VSD2|VSD3 Cardiovascular disease|Congenital abnormality Heart Valve Diseases MESH:D006349 DO:DOID:4079 Pathological conditions involving any of the various HEART VALVES and the associated structures (PAPILLARY MUSCLES and CHORDAE TENDINEAE). MESH:D006331 C14.280.484 C14.280 Disease, Heart Valvular|Heart Disease, Valvular|Heart Valve Disease|Heart Valvular Disease|Heart Valvular Diseases|Valve Disease, Heart|Valvular Disease, Heart|Valvular Heart Disease|Valvular Heart Diseases Cardiovascular disease Heart Valve Prolapse MESH:D016127 DO:DOID:4079 Downward displacement of any one of the HEART VALVES from its normal position. This usually results in failed valve closure. MESH:D006349 C14.280.484.400 C14.280.484 Heart Valve Prolapses|Prolapse, Heart Valve|Prolapses, Heart Valve|Valve Prolapse, Heart|Valve Prolapses, Heart Cardiovascular disease Heartwater Disease MESH:D006357 A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM. MESH:D000820|MESH:D016873 C01.150.252.400.054.750.500|C01.920.930.300.500|C22.434 C01.150.252.400.054.750|C01.920.930.300|C22 Disease, Heartwater Animal disease|Bacterial infection or mycosis Heat Exhaustion MESH:D006359 A clinical syndrome caused by heat stress, such as over-exertion in a hot environment or excessive exposure to sun. It is characterized by SWEATING, water (volume) depletion, salt depletion, cool clammy skin, NAUSEA, and HEADACHE. MESH:D018882 C26.522.250 C26.522 Collapse, Heat|Exhaustion, Heat|Heat Collapse|Heat Prostration|Prostration, Heat Wounds and injuries Heat Stress Disorders MESH:D018882 A group of conditions that develop due to overexposure or overexertion in excessive environmental heat. MESH:D014947 C26.522 C26 Exertional Heat Illness|Exertional Heat Illnesses|Exertional Heat Stress|Exertional Heat Stresses|Fatigue, Heat|Heat Cramp|Heat Cramps|Heat Fatigue|Heat Fatigues|Heat Illness|Heat Illnesses|Heat Illness, Exertional|Heat Stress Disorder|Heat Stress, Exertional|Heat Stress Syndrome|Heat Stress Syndromes|Heat Syncope|Heat Syncopes|Illness, Heat|Stress Disorder, Heat|Stress Disorders, Heat|Stress Syndrome, Heat|Syncope, Heat Wounds and injuries Heat Stroke MESH:D018883 A condition caused by the failure of body to dissipate heat in an excessively hot environment or during PHYSICAL EXERTION in a hot environment. Contrast to HEAT EXHAUSTION, the body temperature in heat stroke patient is dangerously high with red, hot skin accompanied by DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly. MESH:D018882 C26.522.500 C26.522 Heatstroke|Heatstrokes|Heat Strokes|Stroke, Heat Wounds and injuries Heavy Chain Disease MESH:D006362 DO:DOID:0060125 A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes. MESH:D008232|MESH:D010265 C15.378.147.780.490|C15.604.515.435|C20.683.780.490 C15.378.147.780|C15.604.515|C20.683.780 Franklin Disease|Franklin's Disease|Franklins Disease|gamma Chain Disease|gamma-Chain Disease|gamma-Chain Diseases|Heavy Chain Diseases|mu Chain Disease|mu-Chain Disease|mu-Chain Diseases Blood disease|Immune system disease|Lymphatic disease heavy chain disease proteins, human MESH:C032598 MESH:D006362 C15.378.147.780.490/C032598|C15.604.515.435/C032598|C20.683.780.490/C032598 C15.378.147.780.490|C15.604.515.435|C20.683.780.490 Blood disease|Immune system disease|Lymphatic disease Heavy Metal Poisoning MESH:D000075322 Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of HEAVY METALS. Acute and chronic exposures can cause ANEMIA; KIDNEY and LIVER damage; PULMONARY EDEMA; MEMORY LOSS and behavioral changes; bone deformities in children; and MISCARRIAGE or PREMATURE LABOR in pregnant women. MESH:D011041 C25.723.522 C25.723 Heavy Metal Poisonings|Metal Poisoning, Heavy|Metal Poisonings, Heavy|Poisoning, Heavy Metal|Poisonings, Heavy Metal Heavy Metal Poisoning, Nervous System MESH:D020260 Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries. MESH:D020258 C10.720.475 C10.720 Poisoning, Heavy Metals, Nervous System Nervous system disease Hecht Scott syndrome MESH:C535856 MESH:D000015|MESH:D006228|MESH:D006330|MESH:D019465 C05.390.408/C535856|C05.660.207/C535856|C05.660.585.988.425/C535856|C14.240.400/C535856|C14.280.400/C535856|C16.131.077/C535856|C16.131.240.400/C535856|C16.131.621.207/C535856|C16.131.621.585.988.500/C535856 C05.390.408|C05.660.207|C05.660.585.988.425|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.207|C16.131.621.585.988.500 Limb deficiency-heart malformation syndrome Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Hecht syndrome MESH:C535857 DO:DOID:0111603|OMIM:158300 MESH:D000015|MESH:D001176|MESH:D014313 C05.550.150/C535857|C05.651.102/C535857|C05.660.077/C535857|C10.597.613.750.700/C535857|C16.131.077/C535857|C16.131.621.077/C535857|C23.888.592.608.750.700/C535857 C05.550.150|C05.651.102|C05.660.077|C10.597.613.750.700|C16.131.077|C16.131.621.077|C23.888.592.608.750.700 Arthrogryposis, Distal, Type 7|DA7|HECHT SYNDROME|MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS|Trismus-pseudocamptodactyly|Trismus-Pseudocamptodactyly Syndrome Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms Heel Spur MESH:D036982 DO:DOID:210 A bony outgrowth on the lower surface of the CALCANEUS. Though often presenting along with plantar fasciitis (FASCIITIS, PLANTAR), they are not considered causally related. MESH:D005096|MESH:D005534 C05.116.540.310.600|C05.360.400 C05.116.540.310|C05.360 Calcaneal Spur|Calcaneal Spurs|Heel Spurs|Spur, Calcaneal|Spur, Heel|Spurs, Calcaneal|Spurs, Heel Musculoskeletal disease Heinz Body Anemias MESH:C563030 OMIM:140700 MESH:D000745 C15.378.071.141.150/C563030|C16.320.070/C563030 C15.378.071.141.150|C16.320.070 Blood disease|Genetic disease (inborn) Helicobacter Infections MESH:D016481 OMIM:600263 Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease. MESH:D016905 C01.150.252.400.466 C01.150.252.400 Helicobacter Infection|HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO|Infection, Helicobacter|Infections, Helicobacter Bacterial infection or mycosis HELLP Syndrome MESH:D017359 DO:DOID:13133 A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION. MESH:D046110 C12.050.703.395.186 C12.050.703.395 Hemolysis, Elevated Liver Enzymes, Lowered Platelets|Syndrome, HELLP Pregnancy complication Helminthiasis MESH:D006373 DO:DOID:883 Infestation with parasitic worms of the helminth class. MESH:D010272 C01.610.335 C01.610 Helminthiases|Infection, Nematomorpha|Infections, Nematomorpha|Nematomorpha Infection|Nematomorpha Infections Parasitic disease Helminthiasis, Animal MESH:D006374 Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary. MESH:D006373|MESH:D010273 C01.610.335.349|C01.610.701.377|C22.674.377 C01.610.335|C01.610.701|C22.674 Animal Helminthiases|Animal Helminthiasis|Helminthiases, Animal Animal disease|Parasitic disease HELSMOORTEL-VAN DER AA SYNDROME OMIM:615873 DO:DOID:0070058 MESH:D008607 C10.597.606.360/615873|C23.888.592.604.646/615873|F03.625.539/615873 C10.597.606.360|C23.888.592.604.646|F03.625.539 HVDAS|MENTAL RETARDATION, AUTOSOMAL DOMINANT 28, FORMERLY|MRD28, FORMERLY Mental disorder|Nervous system disease|Signs and symptoms Hemangioblastoma MESH:D018325 DO:DOID:5241 A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2) MESH:D018324 C04.557.645.375.380.370 C04.557.645.375.380 Hemangioblastoma, Multiple|Hemangioblastomas|Hemangioblastomas, Multiple|Multiple Hemangioblastoma|Multiple Hemangioblastomas Cancer Hemangioendothelioma MESH:D006390 A neoplasm derived from blood vessels, characterized by numerous prominent endothelial cells that occur singly, in aggregates, and as the lining of congeries of vascular tubes or channels. Hemangioendotheliomas are relatively rare and are of intermediate malignancy (between benign hemangiomas and conventional angiosarcomas). They affect men and women about equally and rarely develop in childhood. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1866) MESH:D006391 C04.557.645.375.370 C04.557.645.375 Endotheliomas, Vascular|Endothelioma, Vascular|Hemangio Endothelioma|Hemangio-Endothelioma|Hemangioendotheliomas|Hemangio-Endotheliomas|Vascular Endothelioma|Vascular Endotheliomas Cancer Hemangioendothelioma, Epithelioid MESH:D018323 A tumor of medium-to-large veins, composed of plump-to-spindled endothelial cells that bulge into vascular spaces in a tombstone-like fashion. These tumors are thought to have 'borderline' aggression, where one-third develop local recurrences, but only rarely metastasize. It is unclear whether the epithelioid hemangioendothelioma is truly neoplastic or an exuberant tissue reaction, nor is it clear if this is equivalent to Kimura's disease (see ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA). (Segen, Dictionary of Modern Medicine, 1992) MESH:D006390 C04.557.645.375.370.380 C04.557.645.375.370 Epithelioid Hemangioendothelioma|Epithelioid Hemangioendotheliomas|Hemangioendotheliomas, Epithelioid Cancer Hemangioma MESH:D006391 DO:DOID:255|DO:DOID:277|DO:DOID:468|DO:DOID:474 A vascular anomaly due to proliferation of BLOOD VESSELS that forms a tumor-like mass. The common types involve CAPILLARIES and VEINS. It can occur anywhere in the body but is most frequently noticed in the SKIN and SUBCUTANEOUS TISSUE. (from Stedman, 27th ed, 2000) MESH:D009383 C04.557.645.375 C04.557.645 Angioma|Chorangioma|Chorangiomas|Chorioangioma|Chorioangiomas|Hemangioma, Histiocytoid|Hemangioma, Intramuscular|Hemangiomas|Hemangiomas, Histiocytoid|Hemangiomas, Intramuscular|Histiocytoid Hemangioma|Histiocytoid Hemangiomas|Intramuscular Hemangioma|Intramuscular Hemangiomas Cancer Hemangioma, Capillary MESH:D018324 DO:DOID:2725 A dull red, firm, dome-shaped hemangioma, sharply demarcated from surrounding skin, usually located on the head and neck, which grows rapidly and generally undergoes regression and involution without scarring. It is caused by proliferation of immature capillary vessels in active stroma, and is usually present at birth or occurs within the first two or three months of life. (Dorland, 27th ed) MESH:D006391 C04.557.645.375.380 C04.557.645.375 Capillary Hemangioma|Capillary Hemangiomas|Hemangiomas, Capillary Cancer Hemangioma, capillary infantile MESH:C535860 OMIM:602089 MESH:D009386|MESH:D018324 C04.557.645.375.380/C535860|C04.700/C535860|C16.320.700/C535860 C04.557.645.375.380|C04.700|C16.320.700 HCI|Hemangioma, hereditary capillary Cancer|Genetic disease (inborn) Hemangioma, Cavernous MESH:D006392 DO:DOID:483 A vascular anomaly that is a collection of tortuous BLOOD VESSELS and connective tissue. This tumor-like mass with the large vascular space is filled with blood and usually appears as a strawberry-like lesion in the subcutaneous areas of the face, extremities, or other regions of the body including the central nervous system. MESH:D006391|MESH:D020141 C04.557.645.375.385|C14.907.454.385|C15.378.463.515.385 C04.557.645.375|C14.907.454|C15.378.463.515 Angioma, Cavernous|Cavernous Angioma|Cavernous Hemangioma|Cavernous Hemangiomas|Hemangiomas, Cavernous|Hemangiomas, Strawberry|Hemangioma, Strawberry|Strawberry Hemangioma|Strawberry Hemangiomas Blood disease|Cancer|Cardiovascular disease Hemangioma, Cavernous, Central Nervous System MESH:D020786 OMIM:116860 A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit. MESH:D006392|MESH:D020785 C04.557.645.375.385.500|C10.500.190.200|C14.240.850.875.249|C14.907.454.385.500|C15.378.463.515.385.500|C16.131.666.190.200 C04.557.645.375.385|C10.500.190|C14.240.850.875|C14.907.454.385|C15.378.463.515.385|C16.131.666.190 Angioma, Familial Cavernous|Angiomas, Familial Cavernous|Angiomatous Malformation, Cavernous|Angiomatous Malformations, Cavernous|Brain Cavernous Hemangioma|Brain Cavernous Hemangiomas|CAM|Capillary Malformation, Cerebral|Capillary Malformations, Cerebral|Cavernous Angioma, Central Nervous System|Cavernous Angioma, Familial|Cavernous Angiomas, Familial|Cavernous Angiomatous Malformation|Cavernous Angiomatous Malformations|Cavernous Hemangioma, Central Nervous System|Cavernous Hemangioma, Cerebral|Cavernous Hemangioma, Extracerebral|Cavernous Hemangioma, Intracerebral|Cavernous Hemangioma of Brain|Cavernous Hemangiomas, Cerebral|Cavernous Hemangiomas, Extracerebral|Cavernous Hemangiomas, Intracerebral|Cavernous Malformation, Cerebral|Cavernous Malformation, Familial|Cavernous Malformations, Cerebral|Cavernous Malformations, Familial|CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED|CCM|CCM1, INCLUDED|Central Nervous System Cavernous Hemangioma|Cerebral Capillary Malformation|Cerebral Capillary Malformations|CEREBRAL CAPILLARY MALFORMATIONS CEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED|Cerebral Cavernous Hemangioma|Cerebral Cavernous Hemangiomas|Cerebral Cavernous Malformation|Cerebral Cavernous Malformations|Extracerebral Cavernous Hemangioma|Extracerebral Cavernous Hemangiomas|Familial Cavernous Angioma|Familial Cavernous Angiomas|Familial Cavernous Malformation|Familial Cavernous Malformations|Hemangioma, Cerebral Cavernous|Hemangioma, Extracerebral Cavernous|Hemangioma, Intracerebral Cavernous|Hemangiomas, Cerebral Cavernous|Hemangiomas, Extracerebral Cavernous|Hemangiomas, Intracerebral Cavernous|HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED|Intracerebral Cavernous Hemangioma|Intracerebral Cavernous Hemangiomas|Malformation, Cavernous Angiomatous|Malformation, Cerebral Capillary|Malformation, Cerebral Cavernous|Malformation, Familial Cavernous|Malformations, Cavernous Angiomatous|Malformations, Cerebral Capillary|Malformations, Cerebral Cavernous|Malformations, Familial Cavernous Blood disease|Cancer|Cardiovascular disease|Congenital abnormality|Nervous system disease Hemangiomas of Small Intestine MESH:C564201 MESH:D006391|MESH:D007414 C04.557.645.375/C564201|C04.588.274.476.411/C564201|C06.301.371.411/C564201|C06.405.249.411/C564201|C06.405.469.491/C564201 C04.557.645.375|C04.588.274.476.411|C06.301.371.411|C06.405.249.411|C06.405.469.491 Cancer|Digestive system disease Hemangiomatosis, Cutaneous, with Associated Features MESH:C562438 MESH:D006391|MESH:D007593|MESH:D010688|MESH:D012868 C04.557.645.375/C562438|C05.550.521/C562438|C12.100.500.494.684/C562438|C12.200.294.494.684/C562438|C16.131.831/C562438|C17.800.804/C562438 C04.557.645.375|C05.550.521|C12.100.500.494.684|C12.200.294.494.684|C16.131.831|C17.800.804 Cancer|Congenital abnormality|Musculoskeletal disease|Skin disease|Urogenital disease (male) Hemangiomatosis, Disseminated MESH:C566283 MESH:D006391 C04.557.645.375/C566283 C04.557.645.375 Cancer Hemangiomatosis, familial pulmonary capillary MESH:C535861 MESH:D006976|MESH:D008175|MESH:D018324 C04.557.645.375.380/C535861|C04.588.894.797.520/C535861|C08.381.423/C535861|C08.381.540/C535861|C08.785.520/C535861|C14.907.489.556/C535861 C04.557.645.375.380|C04.588.894.797.520|C08.381.423|C08.381.540|C08.785.520|C14.907.489.556 Familial pulmonary capillary hemangiomatosis Cancer|Cardiovascular disease|Respiratory tract disease Hemangiopericytoma MESH:D006393 DO:DOID:264 A tumor composed of spindle cells with a rich vascular network, which apparently arises from pericytes, cells of smooth muscle origin that lie around small vessels. Benign and malignant hemangiopericytomas exist, and the rarity of these lesions has led to considerable confusion in distinguishing between benign and malignant variants. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1364) MESH:D009383 C04.557.645.380 C04.557.645 Hemangiopericytomas Cancer Hemangiopericytoma, Malignant MESH:C562740 MESH:D006393 C04.557.645.380/C562740 C04.557.645.380 Cancer Hemangiosarcoma MESH:D006394 DO:DOID:0001816 A rare malignant neoplasm characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and lining irregular blood-filled or lumpy spaces. (Stedman, 25th ed) MESH:D009383|MESH:D012509 C04.557.450.795.390|C04.557.645.390 C04.557.450.795|C04.557.645 Angiosarcoma|Angiosarcomas|Hemangiosarcomas Cancer Hemarthrosis MESH:D006395 DO:DOID:801 Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia. MESH:D006470|MESH:D007592 C05.550.459|C23.550.414.794 C05.550|C23.550.414 Hemarthroses Musculoskeletal disease|Pathology (process) Hematemesis MESH:D006396 Vomiting of blood that is either fresh bright red, or older 'coffee-ground' in character. It generally indicates bleeding of the UPPER GASTROINTESTINAL TRACT. MESH:D006471|MESH:D014839 C06.405.227.400|C23.550.414.788.400|C23.888.821.937.019 C06.405.227|C23.550.414.788|C23.888.821.937 Hematemeses Digestive system disease|Pathology (process)|Signs and symptoms Hematocele MESH:D006398 DO:DOID:12332 Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the TESTIS leading to testicular hematocele or scrotal hematocele. MESH:D005832|MESH:D006470 C12.100.500.287|C12.200.294.287|C23.550.414.817 C12.100.500|C12.200.294|C23.550.414 Hematoceles|Hematocele, Scrotal|Hematoceles, Scrotal|Hematoceles, Testicular|Hematocele, Testicular|Scrotal Hematocele|Scrotal Hematoceles|Testicular Hematocele|Testicular Hematoceles Pathology (process)|Urogenital disease (male) Hematocolpos MESH:D006399 A blood-filled VAGINA that is obstructed. MESH:D014623 C12.050.351.500.894.300|C12.100.250.894.300 C12.050.351.500.894|C12.100.250.894 Urogenital disease (female) Hematologic Diseases MESH:D006402 DO:DOID:74 Disorders of the blood and blood forming tissues. MESH:D006425 C15.378 C15 Blood Disease|Blood Diseases|Disease, Blood|Disease, Hematologic|Disease, Hematological|Diseases, Blood|Diseases, Hematologic|Diseases, Hematological|Hematological Disease|Hematological Diseases|Hematologic Disease Blood disease Hematologic Neoplasms MESH:D019337 DO:DOID:2531 Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES. MESH:D006402|MESH:D009371 C04.588.448|C15.378.400 C04.588|C15.378 Blood Cancer|Blood Cancers|Cancer, Blood|Hematological Malignancies|Hematological Malignancy|Hematological Neoplasm|Hematological Neoplasms|Hematologic Malignancies|Hematologic Malignancy|Hematologic Neoplasm|Hematopoietic Malignancies|Hematopoietic Malignancy|Hematopoietic Neoplasm|Hematopoietic Neoplasms|Malignancies, Hematologic|Malignancy, Hematologic|Malignancy, Hematological|Malignancy, Hematopoietic|Neoplasm, Hematologic|Neoplasm, Hematological|Neoplasm, Hematopoietic|Neoplasms, Hematologic|Neoplasms, Hematopoietic Blood disease|Cancer Hematoma MESH:D006406 A collection of blood outside the BLOOD VESSELS. Hematoma can be localized in an organ, space, or tissue. MESH:D006470 C23.550.414.838 C23.550.414 Hematomas Pathology (process) Hematoma, Epidural, Cranial MESH:D006407 Accumulation of blood in the EPIDURAL SPACE between the SKULL and the DURA MATER, often as a result of bleeding from the MENINGEAL ARTERIES associated with a temporal or parietal bone fracture. Epidural hematoma tends to expand rapidly, compressing the dura and underlying brain. Clinical features may include HEADACHE; VOMITING; HEMIPARESIS; and impaired mental function. MESH:D006406|MESH:D020198|MESH:D020300 C10.228.140.300.535.450.300|C10.900.300.837.300|C14.907.253.573.400.400|C23.550.414.838.349|C23.550.414.913.400|C26.915.300.490.400 C10.228.140.300.535.450|C10.900.300.837|C14.907.253.573.400|C23.550.414.838|C23.550.414.913|C26.915.300.490 Cranial Epidural Hematoma|Cranial Epidural Hematomas|Cranial Epidural Hemorrhage|Cranial Epidural Hemorrhages|Cranial Extradural Hematoma|Cranial Extradural Hematomas|Cranial Extradural Hemorrhage|Cranial Extradural Hemorrhages|Epidural Hematoma, Cranial|Epidural Hematoma, Intracranial|Epidural Hematomas, Cranial|Epidural Hematomas, Intracranial|Epidural Hemorrhage, Cranial|Epidural Hemorrhages, Cranial|Extradural Hematoma, Cranial|Extradural Hematomas, Cranial|Extradural Hemorrhage, Cranial|Extradural Hemorrhages, Cranial|Hematoma, Cranial Epidural|Hematoma, Cranial Extradural|Hematoma, Epidural, Intracranial|Hematoma, Intracranial Epidural|Hematomas, Cranial Epidural|Hematomas, Cranial Extradural|Hematomas, Intracranial Epidural|Hemorrhage, Cranial Epidural|Hemorrhage, Cranial Extradural|Hemorrhages, Cranial Epidural|Hemorrhages, Cranial Extradural|Intracranial Epidural Hematoma|Intracranial Epidural Hematomas Cardiovascular disease|Nervous system disease|Pathology (process)|Wounds and injuries Hematoma, Epidural, Spinal MESH:D046748 A rare epidural hematoma in the spinal epidural space, usually due to a vascular malformation (CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS) or TRAUMA. Spontaneous spinal epidural hematoma is a neurologic emergency due to a rapidly evolving compressive MYELOPATHY. MESH:D006406 C23.550.414.838.355 C23.550.414.838 Epidural Hematoma, Spinal|Epidural Hematomas, Spinal|Epidural Hemorrhage, Spinal|Epidural Hemorrhages, Spinal|Hematoma, Spinal Epidural|Hematomas, Spinal Epidural|Hemorrhage, Spinal Epidural|Hemorrhages, Spinal Epidural|Spinal Epidural Hematoma|Spinal Epidural Hematomas|Spinal Epidural Hemorrhage|Spinal Epidural Hemorrhages Pathology (process) Hematoma, Subdural MESH:D006408 Accumulation of blood in the SUBDURAL SPACE between the DURA MATER and the arachnoidal layer of the MENINGES. This condition primarily occurs over the surface of a CEREBRAL HEMISPHERE, but may develop in the spinal canal (HEMATOMA, SUBDURAL, SPINAL). Subdural hematoma can be classified as the acute or the chronic form, with immediate or delayed symptom onset, respectively. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status. MESH:D006406|MESH:D020198|MESH:D020300 C10.228.140.300.535.450.400|C10.900.300.837.600|C14.907.253.573.400.450|C23.550.414.838.700|C23.550.414.913.700|C26.915.300.490.450 C10.228.140.300.535.450|C10.900.300.837|C14.907.253.573.400|C23.550.414.838|C23.550.414.913|C26.915.300.490 Hematomas, Subdural|Hematomas, Traumatic Subdural|Hematoma, Traumatic Subdural|Hemorrhages, Subdural|Hemorrhage, Subdural|Subdural Hematoma|Subdural Hematomas|Subdural Hematomas, Traumatic|Subdural Hematoma, Traumatic|Subdural Hemorrhage|Subdural Hemorrhages|Traumatic Subdural Hematoma|Traumatic Subdural Hematomas Cardiovascular disease|Nervous system disease|Pathology (process)|Wounds and injuries Hematoma, Subdural, Acute MESH:D020199 Accumulation of blood in the SUBDURAL SPACE with acute onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status. MESH:D006408 C10.228.140.300.535.450.400.050|C10.900.300.837.600.050|C14.907.253.573.400.450.050|C23.550.414.838.700.100|C23.550.414.913.700.100|C26.915.300.490.450.050 C10.228.140.300.535.450.400|C10.900.300.837.600|C14.907.253.573.400.450|C23.550.414.838.700|C23.550.414.913.700|C26.915.300.490.450 Acute Subdural Hematoma|Acute Subdural Hematomas|Hematoma, Acute Subdural|Hematomas, Acute Subdural|Hemorrhage, Subdural, Acute|Subdural Hematoma, Acute|Subdural Hematomas, Acute Cardiovascular disease|Nervous system disease|Pathology (process)|Wounds and injuries Hematoma, Subdural, Chronic MESH:D020200 Accumulation of blood in the SUBDURAL SPACE with delayed onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status. MESH:D002908|MESH:D006408 C10.228.140.300.535.450.400.120|C10.900.300.837.600.120|C14.907.253.573.400.450.120|C23.550.291.500.431|C23.550.414.838.700.200|C23.550.414.913.700.200|C26.915.300.490.450.120 C10.228.140.300.535.450.400|C10.900.300.837.600|C14.907.253.573.400.450|C23.550.291.500|C23.550.414.838.700|C23.550.414.913.700|C26.915.300.490.450 Chronic Subdural Hematoma|Chronic Subdural Hematomas|Hematoma, Chronic Subdural|Hematomas, Chronic Subdural|Hemorrhage, Subdural, Chronic|Subdural Hematoma, Chronic|Subdural Hematomas, Chronic Cardiovascular disease|Nervous system disease|Pathology (process)|Wounds and injuries Hematoma, Subdural, Intracranial MESH:D046648 Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE. MESH:D006408 C10.228.140.300.535.450.400.400|C10.900.300.837.600.400|C14.907.253.573.400.450.400|C23.550.414.838.700.400|C23.550.414.913.700.400|C26.915.300.490.450.400 C10.228.140.300.535.450.400|C10.900.300.837.600|C14.907.253.573.400.450|C23.550.414.838.700|C23.550.414.913.700|C26.915.300.490.450 Hematoma, Intracranial Subdural|Hematomas, Intracranial Subdural|Hematoma, Subdural, Cranial|Intracranial Subdural Hematoma|Intracranial Subdural Hematomas|Intracranial Subdural Hematoma, Traumatic|Subdural Hematoma, Intracranial|Subdural Hematomas, Intracranial|Subdural Hematoma, Traumatic, Intracranial|Traumatic Intracranial Subdural Hematoma Cardiovascular disease|Nervous system disease|Pathology (process)|Wounds and injuries Hematoma, Subdural, Spinal MESH:D046649 Subdural hematoma of the SPINAL CANAL. MESH:D006408 C23.550.414.838.700.700 C23.550.414.838.700 Hematoma, Spinal Subdural|Hematomas, Spinal Subdural|Spinal Subdural Hematoma|Spinal Subdural Hematomas|Spinal Subdural Hematoma, Traumatic|Subdural Hematoma, Spinal|Subdural Hematoma, Spinal, Traumatic|Subdural Hematomas, Spinal|Traumatic Spinal Subdural Hematoma Pathology (process) Hematometra MESH:D006409 DO:DOID:9958 Blood-filled UTERUS. MESH:D014591 C12.050.351.500.852.495|C12.100.250.852.495 C12.050.351.500.852|C12.100.250.852 Hematometras Urogenital disease (female) Hematuria MESH:D006417 Presence of blood in the urine. MESH:D006470|MESH:D014555 C12.050.351.968.934.442|C12.200.777.934.442|C12.950.934.442|C23.550.414.849 C12.050.351.968.934|C12.200.777.934|C12.950.934|C23.550.414 Hematurias Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Hematuria, Benign Familial MESH:C562476 OMIM:141200 MESH:D006417 C12.050.351.968.934.442/C562476|C12.200.777.934.442/C562476|C12.950.934.442/C562476|C23.550.414.849/C562476 C12.050.351.968.934.442|C12.200.777.934.442|C12.950.934.442|C23.550.414.849 BFH|BFH1|HEMATURIA, BENIGN FAMILIAL|HEMATURIA, BENIGN FAMILIAL, 1|Thin-Basement-Membrane Nephropathy|Thin Membrane Nephropathy|TMN Pathology (process)|Urogenital disease (female)|Urogenital disease (male) HEM dysplasia MESH:C535858 DO:DOID:0111588 MESH:D010009 C05.116.099.708/C535858|C16.320.728/C535858 C05.116.099.708|C16.320.728 Chondrodystrophy, Hydropic And Prenatally Lethal Type|Greenberg dysplasia|Greenberg Skeletal Dysplasia|Hem Skeletal Dysplasia|Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia|Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia|Moth-Eaten Skeletal Dysplasia Genetic disease (inborn)|Musculoskeletal disease Heme Oxygenase 1 Deficiency MESH:C564200 OMIM:614034 MESH:D000743|MESH:D006130|MESH:D019189 C15.378.071.141/C564200|C18.452.565/C564200|C23.550.393/C564200 C15.378.071.141|C18.452.565|C23.550.393 HMOX1D Blood disease|Metabolic disease|Pathology (process) Hemianopsia MESH:D006423 Partial or complete loss of vision in one half of the visual field(s) of one or both eyes. Subtypes include altitudinal hemianopsia, characterized by a visual defect above or below the horizontal meridian of the visual field. Homonymous hemianopsia refers to a visual defect that affects both eyes equally, and occurs either to the left or right of the midline of the visual field. Binasal hemianopsia consists of loss of vision in the nasal hemifields of both eyes. Bitemporal hemianopsia is the bilateral loss of vision in the temporal fields. Quadrantanopsia refers to loss of vision in one quarter of the visual field in one or both eyes. MESH:D001766|MESH:D014786 C10.597.751.941.512|C11.966.075.500|C23.888.592.763.941.512 C10.597.751.941|C11.966.075|C23.888.592.763.941 Altidudinal Hemianopia|Altidudinal Hemianopias|Altitudinal Hemianopsia|Altitudinal Hemianopsias|Binasal Hemianopia|Binasal Hemianopias|Binasal Hemianopsia|Binasal Hemianopsias|Bitemporal Hemianopia|Bitemporal Hemianopias|Bitemporal Hemianopsia|Bitemporal Hemianopsias|Hemianopia|Hemianopia, Altidudinal|Hemianopia, Binasal|Hemianopia, Bitemporal|Hemianopia, Homonymous|Hemianopias|Hemianopias, Altidudinal|Hemianopias, Binasal|Hemianopias, Bitemporal|Hemianopias, Homonymous|Hemianopsia, Altitudinal|Hemianopsia, Binasal|Hemianopsia, Bitemporal|Hemianopsia, Homonymous|Hemianopsias|Hemianopsias, Altitudinal|Hemianopsias, Binasal|Hemianopsias, Bitemporal|Hemianopsias, Homonymous|Homonymous Hemianopia|Homonymous Hemianopias|Homonymous Hemianopsia|Homonymous Hemianopsias|Quadrantanopia|Quadrantanopias|Quadrantanopsia|Quadrantanopsias Eye disease|Nervous system disease|Signs and symptoms Hemic and Lymphatic Diseases MESH:D006425 Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. MESH:C C15 C Blood and Lymphatic System Disorders Hemifacial Hyperplasia With Strabismus MESH:C564199 MESH:D000550|MESH:D005146|MESH:D013285 C10.228.140.055/C564199|C10.292.562.887/C564199|C10.597.751.941.073/C564199|C11.590.810/C564199|C11.966.073/C564199|C23.300.505/C564199|C23.888.592.763.941.073/C564199 C10.228.140.055|C10.292.562.887|C10.597.751.941.073|C11.590.810|C11.966.073|C23.300.505|C23.888.592.763.941.073 Bencze Syndrome Eye disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Hemifacial myohyperplasia MESH:C535862 MESH:D005146 C23.300.505/C535862 C23.300.505 Hypertrophy and asymmetry of the facial muscles Pathology (anatomical condition) Hemifacial Spasm MESH:D019569 Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders. (From Adams et al., Principles of Neurology, 6th ed, p1378) MESH:D009059|MESH:D013035 C07.465.364|C10.597.613.750.400|C23.888.592.608.750.400 C07.465|C10.597.613.750|C23.888.592.608.750 Facial Spasms, Unilateral|Facial Spasm, Unilateral|Hemifacial Myokymia|Hemifacial Spasms|Myokymia, Hemifacial|Spasm, Hemifacial|Spasms, Hemifacial|Spasms, Unilateral Facial|Spasm, Unilateral Facial|Unilateral Facial Spasm|Unilateral Facial Spasms Mouth disease|Nervous system disease|Signs and symptoms Hemifacial Spasm, Familial MESH:C564198 MESH:D019569 C07.465.364/C564198|C10.597.613.750.400/C564198|C23.888.592.608.750.400/C564198 C07.465.364|C10.597.613.750.400|C23.888.592.608.750.400 Mouth disease|Nervous system disease|Signs and symptoms Hemihyperplasia, Isolated MESH:C565524 OMIM:235000 MESH:D006965 C23.550.444/C565524 C23.550.444 Hemi 3 Syndrome|Hemihyperplasia|Hemihypertrophy, Isolated|HEMIHYPERTROPHY, ISOLATED HEMI-3 SYNDROME, INCLUDED|HHP|IH Pathology (process) Hemimegalencephaly MESH:D065705 Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partial paralysis, and mental retardation. MESH:D058627 C05.660.207.536.500|C10.500.507.400.249.500|C16.131.621.207.532.500|C16.131.666.507.400.249.500 C05.660.207.536|C10.500.507.400.249|C16.131.621.207.532|C16.131.666.507.400.249 Hemimegalencephalies|Macrocephalies, Unilateral|Macrocephaly, Unilateral|Megalencephalies, Unilateral|Megalencephaly, Unilateral|Unilateral Macrocephalies|Unilateral Macrocephaly|Unilateral Megalencephalies|Unilateral Megalencephaly Congenital abnormality|Musculoskeletal disease|Nervous system disease Hemiplegia MESH:D006429 DO:DOID:10969 Severe or complete loss of motor function on one side of the body. This condition is usually caused by BRAIN DISEASES that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, BRAIN STEM lesions; cervical SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; and other conditions may manifest as hemiplegia. The term hemiparesis (see PARESIS) refers to mild to moderate weakness involving one side of the body. MESH:D010243 C10.597.622.295|C23.888.592.636.312 C10.597.622|C23.888.592.636 Crossed Hemiplegia|Crossed Hemiplegias|Flaccid Hemiplegia|Flaccid Hemiplegias|Hemiplegia, Crossed|Hemiplegia, Flaccid|Hemiplegia, Infantile|Hemiplegia, Post Ictal|Hemiplegia, Post-Ictal|Hemiplegias|Hemiplegias, Crossed|Hemiplegias, Flaccid|Hemiplegias, Infantile|Hemiplegia, Spastic|Hemiplegias, Post-Ictal|Hemiplegias, Spastic|Hemiplegias, Transient|Hemiplegia, Transient|Infantile Hemiplegia|Infantile Hemiplegias|Monoplegia|Monoplegias|Post-Ictal Hemiplegia|Post-Ictal Hemiplegias|Spastic Hemiplegia|Spastic Hemiplegias|Transient Hemiplegia|Transient Hemiplegias Nervous system disease|Signs and symptoms Hemiplegic migraine, familial type 1 MESH:C536890 OMIM:141500 MESH:D002524|MESH:D008881 C10.228.140.252.190/C536890|C10.228.140.546.399.750/C536890|C10.597.350.090.500/C536890|C23.888.592.350.090.200/C536890 C10.228.140.252.190|C10.228.140.546.399.750|C10.597.350.090.500|C23.888.592.350.090.200 FHM|FHM1|MHP1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED|Migraine, Familial Hemiplegic, 1|Migraine, familial hemiplegic 1, with progressive cerebellar ataxia|MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED Nervous system disease|Signs and symptoms Hemiplegic migraine, familial type 2 MESH:C537246 OMIM:602481 MESH:D020325 C10.228.140.546.399.750.250/C537246 C10.228.140.546.399.750.250 Familial hemiplegic migraine, type 2|FHM2|MHP2 MIGRAINE, FAMILIAL BASILAR, INCLUDED|Migraine, familial hemiplegic, 2 Nervous system disease Hemobilia MESH:D006431 Hemorrhage in or through the BILIARY TRACT due to trauma, inflammation, CHOLELITHIASIS, vascular disease, or neoplasms. MESH:D006470 C23.550.414.864 C23.550.414 Biliary Tract Hemorrhage|Biliary Tract Hemorrhages|Hemobilias|Hemorrhage, Biliary Tract Pathology (process) Hemochromatosis MESH:D006432 DO:DOID:2352|OMIM:235200 A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) MESH:D008664|MESH:D019190 C16.320.565.618.337|C18.452.565.500.480|C18.452.648.618.337 C16.320.565.618|C18.452.565.500|C18.452.648.618 Bronzed Cirrhoses|Bronzed Cirrhosis|Bronze Diabetes|Cirrhoses, Bronzed|Cirrhoses, Pigmentary|Cirrhosis, Bronzed|Cirrhosis, Pigmentary|Diabetes, Bronze|Diseases, Von Recklenhausen-Applebaum|Disease, Von Recklenhausen-Applebaum|Disorder, Iron Storage|Disorders, Iron Storage|Familial Hemochromatoses|Familial Hemochromatosis|Genetic Hemochromatoses|Genetic Hemochromatosis|Haemochromatoses|Haemochromatosis|Hemochromatose|Hemochromatoses|Hemochromatoses, Familial|Hemochromatoses, Genetic|HEMOCHROMATOSIS|Hemochromatosis, Familial|Hemochromatosis, Genetic|HEMOCHROMATOSIS, HEREDITARY|HEMOCHROMATOSIS, TYPE 1|HFE|HFE1|HH|Iron Storage Disorder|Iron Storage Disorders|Pigmentary Cirrhoses|Pigmentary Cirrhosis|Primary Hemochromatosis|Recklenhausen-Applebaum Diseases, Von|Recklenhausen-Applebaum Disease, Von|Storage Disorder, Iron|Storage Disorders, Iron|Syndromes, Troisier-Hanot-Chauffard|Syndrome, Troisier-Hanot-Chauffard|Troisier Hanot Chauffard Syndrome|Troisier-Hanot-Chauffard Syndrome|Troisier-Hanot-Chauffard Syndromes|Von Recklenhausen Applebaum Disease|Von Recklenhausen-Applebaum Disease|Von Recklenhausen-Applebaum Diseases Genetic disease (inborn)|Metabolic disease Hemochromatosis, type 2 MESH:C537247 DO:DOID:0111034|OMIM:602390 MESH:D006432 C16.320.565.618.337/C537247|C18.452.565.500.480/C537247|C18.452.648.618.337/C537247 C16.320.565.618.337|C18.452.565.500.480|C18.452.648.618.337 Hemochromatosis, juvenile|HEMOCHROMATOSIS, JUVENILE, INCLUDED|Hemochromatosis, Type 2A|HEMOCHROMATOSIS, TYPE 2, INCLUDED|HFE2A|HFE2, INCLUDED|JH, INCLUDED|Juvenile hemochromatosis Genetic disease (inborn)|Metabolic disease Hemochromatosis, Type 2B MESH:C566557 OMIM:613313 MESH:D006432 C16.320.565.618.337/C566557|C18.452.565.500.480/C566557|C18.452.648.618.337/C566557 C16.320.565.618.337|C18.452.565.500.480|C18.452.648.618.337 HFE2B Genetic disease (inborn)|Metabolic disease Hemochromatosis, type 3 MESH:C537248 DO:DOID:0111030|OMIM:604250 MESH:D006432 C16.320.565.618.337/C537248|C18.452.565.500.480/C537248|C18.452.648.618.337/C537248 C16.320.565.618.337|C18.452.565.500.480|C18.452.648.618.337 Hemochromatosis due to defect in transferrin receptor 2|HFE3 Genetic disease (inborn)|Metabolic disease Hemochromatosis, type 4 MESH:C537249 DO:DOID:0111028|OMIM:606069 MESH:D006432 C16.320.565.618.337/C537249|C18.452.565.500.480/C537249|C18.452.648.618.337/C537249 C16.320.565.618.337|C18.452.565.500.480|C18.452.648.618.337 Hemochromatosis, autosomal dominant|Hemochromatosis due to defect in ferroportin|HFE4 Genetic disease (inborn)|Metabolic disease HEMOCHROMATOSIS, TYPE 5 OMIM:615517 DO:DOID:0111031 MESH:D006432 C16.320.565.618.337/615517|C18.452.565.500.480/615517|C18.452.648.618.337/615517 C16.320.565.618.337|C18.452.565.500.480|C18.452.648.618.337 HFE5|IRON OVERLOAD, AUTOSOMAL DOMINANT Genetic disease (inborn)|Metabolic disease Hemoglobin C Disease MESH:D006445 DO:DOID:2859 A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice. MESH:D000745|MESH:D006453 C15.378.071.141.150.490|C15.378.420.463|C16.320.070.490|C16.320.365.463 C15.378.071.141.150|C15.378.420|C16.320.070|C16.320.365 C Disease, Hemoglobin|C Diseases, Hemoglobin|Hemoglobin-C Disease|Hemoglobin C Diseases|Hemoglobin-C Diseases Blood disease|Genetic disease (inborn) Hemoglobin M Disease MESH:C581942 MESH:D008708 C15.378.619/C581942 C15.378.619 Blood disease Hemoglobinopathies MESH:D006453 DO:DOID:2860 A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. MESH:D006402|MESH:D030342 C15.378.420|C16.320.365 C15.378|C16.320 Hemoglobinopathy Blood disease|Genetic disease (inborn) Hemoglobin SC Disease MESH:D006450 DO:DOID:10923 One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia. MESH:D000755 C15.378.071.141.150.150.440|C15.378.420.155.440|C16.320.070.150.440|C16.320.365.155.440 C15.378.071.141.150.150|C15.378.420.155|C16.320.070.150|C16.320.365.155 Disease, Hemoglobin SC|Disease, SC|Diseases, Hemoglobin SC|Diseases, SC|Hemoglobin SC Diseases|SC Disease|SC Disease, Hemoglobin|SC Diseases|SC Diseases, Hemoglobin|Sickle Cell Hemoglobin C Disease Blood disease|Genetic disease (inborn) Hemoglobinuria MESH:D006456 DO:DOID:582 The presence of free HEMOGLOBIN in the URINE, indicating hemolysis of ERYTHROCYTES within the vascular system. After saturating the hemoglobin-binding proteins (HAPTOGLOBINS), free hemoglobin begins to appear in the urine. MESH:D011507 C12.050.351.968.934.734.634|C12.200.777.934.734.634|C12.950.934.734.634|C23.888.942.750.634 C12.050.351.968.934.734|C12.200.777.934.734|C12.950.934.734|C23.888.942.750 Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Hemoglobinuria, Paroxysmal MESH:D006457 DO:DOID:0060284|OMIM:300818|OMIM:615399 A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins. MESH:D000743|MESH:D009190 C15.378.071.141.560|C15.378.190.625.460 C15.378.071.141|C15.378.190.625 Cold Paroxysmal Hemoglobinuria|Hemoglobinuria, Cold Paroxysmal|Hemoglobinuria, Nocturnal Paroxysmal|Hemoglobinuria, Paroxysmal Cold|Hemoglobinuria, Paroxysmal Nocturnal|Marchiafava Micheli Syndrome|Marchiafava-Micheli Syndrome|Nocturnal Paroxysmal Hemoglobinuria|Paroxysmal Cold Hemoglobinuria|Paroxysmal Hemoglobinuria|Paroxysmal Hemoglobinuria, Cold|Paroxysmal Hemoglobinuria, Nocturnal|Paroxysmal Nocturnal Hemoglobinuria|PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1|PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2|PNH1|PNH2|Syndrome, Marchiafava-Micheli Blood disease Hemolysis MESH:D006461 The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity. MESH:D010335 C23.550.403 C23.550 Extravascular Hemolyses|Extravascular Hemolysis|Haemolyses|Haemolysis|Hemolyses, Extravascular|Hemolyses, Intravascular|Hemolysis, Extravascular|Hemolysis, Intravascular|Intravascular Hemolyses|Intravascular Hemolysis Pathology (process) Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa MESH:C562629 MESH:D000745|MESH:D003483|MESH:D004646 C15.378.071.141.150/C562629|C16.320.070/C562629|C16.320.850.180/C562629|C17.300.230/C562629|C17.800.827.180/C562629|C23.550.325/C562629 C15.378.071.141.150|C16.320.070|C16.320.850.180|C17.300.230|C17.800.827.180|C23.550.325 Cutis Laxa, Emphysema, and Hemolytic Anemia Blood disease|Connective tissue disease|Genetic disease (inborn)|Pathology (process)|Skin disease Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities MESH:C563935 MESH:D000015|MESH:D000745|MESH:D014564 C12.050.351.875/C563935|C12.200.706/C563935|C12.800/C563935|C15.378.071.141.150/C563935|C16.131.077/C563935|C16.131.939/C563935|C16.320.070/C563935 C12.050.351.875|C12.200.706|C12.800|C15.378.071.141.150|C16.131.077|C16.131.939|C16.320.070 Blood disease|Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY OMIM:613470 DO:DOID:2861 MESH:D000745|MESH:D008661 C15.378.071.141.150/613470|C16.320.070/613470|C16.320.565/613470|C18.452.648/613470 C15.378.071.141.150|C16.320.070|C16.320.565|C18.452.648 Blood disease|Genetic disease (inborn)|Metabolic disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY OMIM:235700 MESH:C562995|MESH:D008661 C15.378.071.141/C562995/235700|C16.320.565/235700|C18.452.648/235700 C15.378.071.141/C562995|C16.320.565|C18.452.648 Blood disease|Genetic disease (inborn)|Metabolic disease Hemolytic Anemia with Thermal Sensitivity of Red Cells MESH:C565522 MESH:D000743 C15.378.071.141/C565522 C15.378.071.141 Blood disease Hemolytic Poikilocytic Anemia due to Reduced Ankyrin Binding Sites MESH:C564197 MESH:D000743 C15.378.071.141/C564197 C15.378.071.141 Blood disease Hemolytic-Uremic Syndrome MESH:D006463 DO:DOID:12554 A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE. MESH:D000743|MESH:D014511|MESH:D057049 C12.050.351.968.419.936.463|C12.200.777.419.936.463|C12.950.419.936.463|C15.378.071.141.610|C15.378.140.855.925.500 C12.050.351.968.419.936|C12.200.777.419.936|C12.950.419.936|C15.378.071.141|C15.378.140.855.925 Gasser's Syndrome|Gassers Syndrome|Gasser Syndrome|Hemolytic Uremic Syndrome|Syndrome, Hemolytic-Uremic Blood disease|Urogenital disease (female)|Urogenital disease (male) Hemoperitoneum MESH:D006465 Accumulations of blood in the PERITONEAL CAVITY due to internal HEMORRHAGE. MESH:D006470|MESH:D010532 C06.844.400|C23.550.414.888 C06.844|C23.550.414 Hemoperitoneums Digestive system disease|Pathology (process) Hemophagocytic lymphohistiocytosis, familial, 2 MESH:C537250 OMIM:603553 MESH:D051359 C15.604.250.410.575/C537250 C15.604.250.410.575 FHL2|HLH2|HPLH2 Lymphatic disease Hemophagocytic lymphohistiocytosis, familial, 3 MESH:C537251 OMIM:608898 MESH:D051359 C15.604.250.410.575/C537251 C15.604.250.410.575 FHL3|HLH3|HPLH3 Lymphatic disease Hemophagocytic lymphohistiocytosis, familial, 4 MESH:C537252 OMIM:603552 MESH:D051359 C15.604.250.410.575/C537252 C15.604.250.410.575 FHL4|HLH4|HPLH4 Lymphatic disease Hemophagocytic Lymphohistiocytosis, Familial, 5 MESH:C567752 OMIM:613101 MESH:D051359 C15.604.250.410.575/C567752 C15.604.250.410.575 Fhl5|HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITH OR WITHOUT MICROVILLUS INCLUSION DISEASE Lymphatic disease Hemophilia A MESH:D006467 DO:DOID:12134|OMIM:306700 The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage. MESH:D006474|MESH:D020147|MESH:D025861 C15.378.100.100.500|C15.378.100.141.500|C15.378.463.500|C16.320.099.500 C15.378.100.100|C15.378.100.141|C15.378.463|C16.320.099 As, Autosomal Hemophilia|Autosomal Hemophilia A|Autosomal Hemophilia As|Classic Hemophilia|Classic Hemophilias|Congenital Hemophilia A|Congenital Hemophilia As|Deficiency, Factor VIII|Factor 8 Deficiency, Congenital|Factor VIII Deficiency|Factor VIII Deficiency, Congenital|Haemophilia|HEMA|Hemophilia|Hemophilia A, Autosomal|Hemophilia A, Congenital|Hemophilia As|Hemophilia As, Autosomal|Hemophilia As, Congenital|Hemophilia, Classic|Hemophilias, Classic Blood disease|Genetic disease (inborn) Hemophilia A with Vascular Abnormality MESH:C564415 MESH:D006467|MESH:D054079 C14.240.850/C564415|C15.378.100.100.500/C564415|C15.378.100.141.500/C564415|C15.378.463.500/C564415|C16.131.240.850/C564415|C16.320.099.500/C564415 C14.240.850|C15.378.100.100.500|C15.378.100.141.500|C15.378.463.500|C16.131.240.850|C16.320.099.500 Blood disease|Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) Hemophilia B MESH:D002836 DO:DOID:12259|OMIM:306900 A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008) MESH:D006474|MESH:D020147|MESH:D025861|MESH:D040181 C15.378.100.100.510|C15.378.100.141.510|C15.378.463.510|C16.320.099.510|C16.320.322.235 C15.378.100.100|C15.378.100.141|C15.378.463|C16.320.099|C16.320.322 Bs, Hemophilia|Christmas Disease|Deficiencies, F9|Deficiencies, Factor IX|Deficiency, F9|Deficiency, Factor IX|Disease, Christmas|F9 Deficiencies|F9 Deficiency|Factor IX Deficiencies|Factor IX Deficiency|Haemophilia B|Haemophilia Bs|HEMB|Hemophilia B Leyden|HEMOPHILIA B LEYDEN, INCLUDED|Hemophilia B(M)|Hemophilia Bs|Hemophilia Bs (M)|Plasma Thromboplastin Component Deficiency|PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY HEMOPHILIA B(M), INCLUDED Blood disease|Genetic disease (inborn) Hemophobia MESH:C000719204 MESH:D010698 F03.080.725/C000719204 F03.080.725 Fear of blood|Phobia, blood Mental disorder Hemopneumothorax MESH:D006468 DO:DOID:2718 Collection of air and blood in the pleural cavity. MESH:D006491|MESH:D010995 C08.528.338|C23.550.414.904.500 C08.528|C23.550.414.904 Pathology (process)|Respiratory tract disease Hemoptysis MESH:D006469 Expectoration or spitting of blood originating from any part of the RESPIRATORY TRACT, usually from hemorrhage in the lung parenchyma (PULMONARY ALVEOLI) and the BRONCHIAL ARTERIES. MESH:D006470|MESH:D008171|MESH:D012818 C08.381.348|C23.550.414.896|C23.888.852.430 C08.381|C23.550.414|C23.888.852 Hemoptyses Pathology (process)|Respiratory tract disease|Signs and symptoms Hemorrhage MESH:D006470 Bleeding or escape of blood from a vessel. MESH:D010335 C23.550.414 C23.550 Bleeding|Hemorrhages Pathology (process) HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS OMIM:613730 MESH:D002114|MESH:D002386|MESH:D006474 C11.510.245/613730|C15.378.463/613730|C18.452.174.130/613730 C11.510.245|C15.378.463|C18.452.174.130 HDBSCC Blood disease|Eye disease|Metabolic disease Hemorrhagic Disorders MESH:D006474 DO:DOID:2213 Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS). MESH:D006402 C15.378.463 C15.378 Diatheses, Hemorrhagic|Diathesis, Hemorrhagic|Disorder, Hemorrhagic|Disorders, Hemorrhagic|Hemorrhagic Diatheses|Hemorrhagic Diathesis|Hemorrhagic Disorder Blood disease Hemorrhagic Fever, American MESH:D006478 Diseases caused by American hemorrhagic fever viruses (ARENAVIRUSES, NEW WORLD). MESH:D001117|MESH:D006482 C01.925.782.082.440|C01.925.782.417.400 C01.925.782.082|C01.925.782.417 American Hemorrhagic Fever|Argentinian Hemorrhagic Fever|Bolivian Hemorrhagic Fever|Fever, American Hemorrhagic|Fever, Argentinian Hemorrhagic|Fever, Bolivian Hemorrhagic|Hemorrhagic Fever, Argentinian|Hemorrhagic Fever, Bolivian Viral disease Hemorrhagic Fever, Crimean MESH:D006479 DO:DOID:12287 A severe, often fatal disease in humans caused by the Crimean-Congo hemorrhagic fever virus (HEMORRHAGIC FEVER VIRUS, CRIMEAN-CONGO). MESH:D001102|MESH:D002044|MESH:D006482|MESH:D017282 C01.920.500.528|C01.920.930.430|C01.925.081.522|C01.925.782.147.444|C01.925.782.417.412 C01.920.500|C01.920.930|C01.925.081|C01.925.782.147|C01.925.782.417 Congo Crimean Hemorrhagic Fever|Congo-Crimean Hemorrhagic Fever|Congo Virus Infection|Crimean Congo Haemorrhagic Fever|Crimean-Congo Haemorrhagic Fever|Crimean Congo Hemorrhagic Fever|Crimean-Congo Hemorrhagic Fever|Crimean Hemorrhagic Fever|Fever, Congo-Crimean Hemorrhagic|Fever, Crimean-Congo Haemorrhagic|Fever, Crimean-Congo Hemorrhagic|Fever, Crimean Hemorrhagic|Haemorrhagic Fever, Crimean-Congo|Hemorrhagic Fever, Congo-Crimean|Hemorrhagic Fever, Crimean-Congo|Infection, Congo Virus Viral disease Hemorrhagic Fever, Ebola MESH:D019142 DO:DOID:4325 A highly fatal, acute hemorrhagic fever caused by EBOLAVIRUS. MESH:D006482|MESH:D018702 C01.925.782.417.415|C01.925.782.580.250.400 C01.925.782.417|C01.925.782.580.250 Ebola Hemorrhagic Fever|Ebola Infection|Ebola Virus Disease|Ebolavirus Infection|Ebola Virus Infection|Ebolavirus Infections|Infection, Ebola|Infection, Ebolavirus|Infection, Ebola Virus|Infections, Ebolavirus|Virus Infection, Ebola Viral disease Hemorrhagic Fever, Omsk MESH:D006481 DO:DOID:992 Infection with the Omsk hemorrhagic fever virus, a Flavivirus. MESH:D001102|MESH:D006482|MESH:D017282|MESH:D018177 C01.920.930.440|C01.925.081.611|C01.925.782.350.250.560|C01.925.782.417.435 C01.920.930|C01.925.081|C01.925.782.350.250|C01.925.782.417 Fever, Omsk Hemorrhagic|Omsk Hemorrhagic Fever Viral disease Hemorrhagic Fevers, Viral MESH:D006482 A group of viral diseases of diverse etiology but having many similar clinical characteristics; increased capillary permeability, leukopenia, and thrombocytopenia are common to all. Hemorrhagic fevers are characterized by sudden onset, fever, headache, generalized myalgia, backache, conjunctivitis, and severe prostration, followed by various hemorrhagic symptoms. Hemorrhagic fever with kidney involvement is HEMORRHAGIC FEVER WITH RENAL SYNDROME. MESH:D012327 C01.925.782.417 C01.925.782 Fevers, Viral Hemorrhagic|Fever, Viral Hemorrhagic|Hemorrhagic Fever, Viral|Viral Hemorrhagic Fever|Viral Hemorrhagic Fevers Viral disease Hemorrhagic Fever with Renal Syndrome MESH:D006480 DO:DOID:11266 An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus ORTHOHANTAVIRUS. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus. MESH:D006482|MESH:D018778 C01.925.782.147.420.400|C01.925.782.417.300 C01.925.782.147.420|C01.925.782.417 Epidemic Hemorrhagic Fever|Epidemic Hemorrhagic Fevers|Hemorrhagic Fever, Epidemic|Hemorrhagic Fever, Korean|Hemorrhagic Fevers, Epidemic|Hemorrhagic Nephroso-Nephritides|Hemorrhagic Nephroso Nephritis|Hemorrhagic Nephroso-Nephritis|HFRS|Korean Hemorrhagic Fever|Nephropathia Epidemica|Nephroso-Nephritides, Hemorrhagic|Nephroso-Nephritis, Hemorrhagic Viral disease Hemorrhagic jaundice MESH:C540322 MESH:D014895 C01.150.252.400.794.511.739/C540322 C01.150.252.400.794.511.739 Icterohemorrhagic fever Bacterial infection or mycosis Hemorrhagic Septicemia MESH:D006483 Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans. MESH:D010326|MESH:D016470 C01.150.252.100.375|C01.150.252.400.700.662.500|C01.757.100.375|C23.550.470.790.500.100.375 C01.150.252.100|C01.150.252.400.700.662|C01.757.100|C23.550.470.790.500.100 Bacteremia, Hemorrhagic|Haemorrhagic Bacteremia|Haemorrhagic Septicaemia|Haemorrhagic Septicemia|Hemorrhagic Bacteremia|Hemorrhagic Septicaemia|Septicemia, Hemorrhagic Bacterial infection or mycosis|Pathology (process) Hemorrhagic Septicemia, Viral MESH:D031941 A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see NOVIRHABDOVIRUS), MESH:D005393|MESH:D014766|MESH:D018353 C01.925.782.580.830.450|C22.362.450|C23.550.470.790.500.900.400 C01.925.782.580.830|C22.362|C23.550.470.790.500.900 Haemorrhagic Septicaemia, Viral|Septicaemia, Viral Haemorrhagic|Septicemia, Viral Hemorrhagic|Viral Haemorrhagic Septicaemia|Viral Hemorrhagic Septicemia Animal disease|Pathology (process)|Viral disease Hemorrhagic shock and encephalopathy syndrome MESH:C537254 MESH:D001778|MESH:D001927|MESH:D012771 C10.228.140/C537254|C15.378.100/C537254|C23.550.414.980/C537254|C23.550.835.650/C537254 C10.228.140|C15.378.100|C23.550.414.980|C23.550.835.650 Blood disease|Nervous system disease|Pathology (process) Hemorrhagic Stroke MESH:D000083302 Stroke due to rupture of a weakened blood vessel in the brain (e.g., CEREBRAL HEMISPHERES; CEREBELLUM; SUBARACHNOID SPACE). MESH:D020521 C10.228.140.300.775.300|C14.907.253.855.300 C10.228.140.300.775|C14.907.253.855 Hemorrhage Stroke, Intracerebral|Hemorrhagic Stroke, Intracerebral|Hemorrhagic Strokes|Hemorrhagic Stroke, Subarachnoid|Intracerebral Hemorrhage Stroke|Intracerebral Hemorrhage Strokes|Intracerebral Hemorrhagic Stroke|Intracerebral Hemorrhagic Strokes|Stroke, Hemorrhagic|Stroke, Intracerebral Hemorrhage|Stroke, Intracerebral Hemorrhagic|Stroke, Subarachnoid Hemorrhagic|Subarachnoid Hemorrhagic Stroke|Subarachnoid Hemorrhagic Strokes Cardiovascular disease|Nervous system disease Hemorrhagic Syndrome, Bovine MESH:D030243 Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (DIARRHEA VIRUS 2, BOVINE VIRAL). Outbreaks are characterized by high morbidity and high mortality. MESH:D002418|MESH:D018182 C01.925.782.350.675.400|C22.196.400 C01.925.782.350.675|C22.196 Bovine Hemorrhagic Syndrome Animal disease|Viral disease Hemorrhoids MESH:D006484 DO:DOID:9746 Swollen veins in the lower part of the RECTUM or ANUS. Hemorrhoids can be inside the anus (internal), under the skin around the anus (external), or protruding from inside to outside of the anus. People with hemorrhoids may or may not exhibit symptoms which include bleeding, itching, and pain. MESH:D012002|MESH:D014652 C06.405.469.860.401|C14.907.449 C06.405.469.860|C14.907 Hemorrhoid Cardiovascular disease|Digestive system disease Hemosiderosis MESH:D006486 DO:DOID:12119 Conditions in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the MONONUCLEAR PHAGOCYTE SYSTEM, without demonstrable tissue damage. The name refers to the presence of stainable iron in the tissue in the form of hemosiderin. MESH:D019190 C18.452.565.500.500 C18.452.565.500 Hemosideroses Metabolic disease Hemosiderosis, Systemic, due to Aceruloplasminemia MESH:C565801 MESH:D006486 C18.452.565.500.500/C565801 C18.452.565.500.500 Metabolic disease Hemospermia MESH:D051516 Blood in the SEMEN, usually due to INFLAMMATION of the PROSTATE, the SEMINAL VESICLES, or both. MESH:D005832 C12.100.500.293|C12.200.294.293 C12.100.500|C12.200.294 Hematospermia Urogenital disease (male) Hemostatic Disorders MESH:D020141 DO:DOID:484 Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS. MESH:D006474|MESH:D014652 C14.907.454|C15.378.463.515 C14.907|C15.378.463 Disorders, Vascular Hemostatic|Disorder, Vascular Hemostatic|Hemostatic Disorder|Hemostatic Disorders, Vascular|Hemostatic Disorder, Vascular|Vascular Hemostatic Disorder|Vascular Hemostatic Disorders Blood disease|Cardiovascular disease Hemothorax MESH:D006491 Hemorrhage within the pleural cavity. MESH:D006470|MESH:D010995 C08.528.380|C23.550.414.904 C08.528|C23.550.414 Pathology (process)|Respiratory tract disease Henipavirus Infections MESH:D045464 Infections with viruses of the genus HENIPAVIRUS, family PARAMYXOVIRIDAE. MESH:D018184 C01.925.782.580.600.400 C01.925.782.580.600 Encephalitis, Nipah Virus|Hendra Virus Infection|Hendra Virus Infections|Henipavirus Infection|Infection, Hendra Virus|Infection, Henipavirus|Infection, Nipah Virus|Infection, NiV|Nipah Virus Encephalitis|Nipah Virus Infection|NiV Infection|NiV Infections|Virus Encephalitis, Nipah|Virus Infection, Hendra|Virus Infection, Nipah|Virus Infections, Hendra Viral disease Hennekam lymphangiectasia lymphedema syndrome MESH:C537255 DO:DOID:0060366|OMIM:235510|OMIM:616006 MESH:D008201|MESH:D008209|MESH:D019465 C05.660.207/C537255|C15.604.360.500/C537255|C15.604.451.500/C537255|C15.604.496/C537255|C16.131.482.500/C537255|C16.131.621.207/C537255 C05.660.207|C15.604.360.500|C15.604.451.500|C15.604.496|C16.131.482.500|C16.131.621.207 Hennekam Lymphangiectasia-Lymphedema Syndrome|HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1|HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2|HKLLS1|HKLLS2|Lymphangiectasies and lymphedema Hennekam type|Lymphatic Dysplasia, Generalized Congenital abnormality|Lymphatic disease|Musculoskeletal disease Hepadnaviridae Infections MESH:D018347 Virus diseases caused by the HEPADNAVIRIDAE. MESH:D004266 C01.925.256.430 C01.925.256 Hepadnaviridae Infection|Infection, Hepadnaviridae|Infections, Hepadnaviridae Viral disease Heparin Cofactor II Deficiency MESH:C562865 DO:DOID:0111901|OMIM:612356 MESH:D013927 C14.907.355.830/C562865 C14.907.355.830 HCF2 DEFICIENCY|Hcf II Deficiency|THPH10|THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY|Thrombophilia, Susceptibility to, due to Heparin Cofactor Ii Deficiency Cardiovascular disease Hepatic Adenomas, Familial MESH:C564190 OMIM:142330 MESH:D000236|MESH:D008113 C04.557.470.035/C564190|C04.588.274.623/C564190|C06.301.623/C564190|C06.552.697/C564190 C04.557.470.035|C04.588.274.623|C06.301.623|C06.552.697 Liver Cell Adenomas, Familial Cancer|Digestive system disease Hepatic Encephalopathy MESH:D006501 DO:DOID:12550|DO:DOID:13413 A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5) MESH:D001928|MESH:D017093 C06.552.308.500.356|C10.228.140.163.360|C18.452.132.360 C06.552.308.500|C10.228.140.163|C18.452.132 Coma, Hepatic|Comas, Hepatic|Encephalopathies, Hepatic|Encephalopathies, Hepatocerebral|Encephalopathies, Portal-Systemic|Encephalopathies, Portosystemic|Encephalopathy, Hepatic|Encephalopathy, Hepatocerebral|Encephalopathy, Portal Systemic|Encephalopathy, Portal-Systemic|Encephalopathy, Portosystemic|Fulminant Hepatic Failure with Cerebral Edema|Hepatic Coma|Hepatic Comas|Hepatic Encephalopathies|Hepatic Stupor|Hepatic Stupors|Hepatocerebral Encephalopathies|Hepatocerebral Encephalopathy|Portal-Systemic Encephalopathies|Portal Systemic Encephalopathy|Portal-Systemic Encephalopathy|Portosystemic Encephalopathies|Portosystemic Encephalopathy|Stupor, Hepatic|Stupors, Hepatic Digestive system disease|Metabolic disease|Nervous system disease Hepatic Fibrosis, Congenital MESH:C562378 MESH:D008103|MESH:D030342 C06.552.630/C562378|C16.320/C562378|C23.550.355.412/C562378 C06.552.630|C16.320|C23.550.355.412 Congenital Fibrose Liver|Congenital Hepatic Fibrosis Digestive system disease|Genetic disease (inborn)|Pathology (process) HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION OMIM:604201 MESH:D008103|MESH:D008109|MESH:D012555 C01.610.335.865.859.576/604201|C01.610.518/604201|C01.920.922.576/604201|C06.552.630/604201|C06.552.664/604201|C23.550.355.412/604201 C01.610.335.865.859.576|C01.610.518|C01.920.922.576|C06.552.630|C06.552.664|C23.550.355.412 SM2 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA JAPONICUM INFECTION, INCLUDED Digestive system disease|Parasitic disease|Pathology (process) Hepatic Infarction MESH:D000081011 DO:DOID:13738 Formation of infarct resulting from obstruction of HEPATIC ARTERY and/or PORTAL VEIN most often after LIVER TRANSPLANTATION or hepatobiliary surgery. MESH:D007238|MESH:D008107 C06.552.289|C23.550.513.355.500|C23.550.717.489.500 C06.552|C23.550.513.355|C23.550.717.489 Hepatic Infarct|Hepatic Infarctions|Hepatic Infarcts|Infarct, Hepatic|Infarction, Hepatic|Infarction, Liver|Infarct, Liver|Liver Infarct|Liver Infarction|Liver Infarctions|Liver Infarcts Digestive system disease|Pathology (process) Hepatic Insufficiency MESH:D048550 Conditions in which the LIVER functions fall below the normal ranges. Severe hepatic insufficiency may cause LIVER FAILURE or DEATH. Treatment may include LIVER TRANSPLANTATION. MESH:D008107 C06.552.308 C06.552 Insufficiency, Hepatic|Insufficiency, Liver|Liver Insufficiency Digestive system disease HEPATIC LIPASE DEFICIENCY OMIM:614025 MESH:D008052 C16.320.565.398/614025|C18.452.584.563/614025|C18.452.648.398/614025 C16.320.565.398|C18.452.584.563|C18.452.648.398 HL DEFICIENCY|LIPC DEFICIENCY Genetic disease (inborn)|Metabolic disease Hepatic Veno-Occlusive Disease MESH:D006504 DO:DOID:0080177 Liver disease that is caused by injuries to the ENDOTHELIAL CELLS of the vessels and subendothelial EDEMA, but not by THROMBOSIS. Extracellular matrix, rich in FIBRONECTINS, is usually deposited around the HEPATIC VEINS leading to venous outflow occlusion and sinusoidal obstruction. MESH:D008107|MESH:D014652 C06.552.360|C14.907.460 C06.552|C14.907 Disease, Hepatic Veno-Occlusive|Hepatic Veno Occlusive Disease|Hepatic Veno-Occlusive Diseases|Sinusoidal Obstruction Syndrome|Syndrome, Sinusoidal Obstruction|Veno Occlusive Disease, Hepatic|Veno-Occlusive Disease, Hepatic Cardiovascular disease|Digestive system disease Hepatic venoocclusive disease with immunodeficiency MESH:C537257 DO:DOID:0112254|OMIM:235550 MESH:D006504|MESH:D007153 C06.552.360/C537257|C14.907.460/C537257|C20.673/C537257 C06.552.360|C14.907.460|C20.673 Familial Veno-Occlusive Disease with Immunodeficiency|Hepatic Veno-Occlusive Disease with Immunodeficiency|Veno-Occlusive Disease and Immunodeficiency Syndrome|VODI Cardiovascular disease|Digestive system disease|Immune system disease Hepatitis MESH:D006505 INFLAMMATION of the LIVER. MESH:D008107 C06.552.380 C06.552 Hepatitides Digestive system disease Hepatitis A MESH:D006506 DO:DOID:12549 INFLAMMATION of the LIVER in humans caused by a member of the HEPATOVIRUS genus, HUMAN HEPATITIS A VIRUS. It can be transmitted through fecal contamination of food or water. MESH:D004769|MESH:D006525 C01.925.440.420|C01.925.782.687.359.500|C06.552.380.705.422 C01.925.440|C01.925.782.687.359|C06.552.380.705 Hepatitides, Infectious|Hepatitis, Infectious|Infectious Hepatitides|Infectious Hepatitis Digestive system disease|Viral disease Hepatitis, Alcoholic MESH:D006519 INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS. MESH:D006505|MESH:D008108 C06.552.380.290|C06.552.645.490|C25.775.100.087.645.490 C06.552.380|C06.552.645|C25.775.100.087.645 Alcoholic Hepatitis|Alcoholic Hepatitis, Chronic|Chronic Alcoholic Hepatitides|Chronic Alcoholic Hepatitis|Hepatitis, Alcoholic, Chronic Digestive system disease|Substance-related disorder Hepatitis, Animal MESH:D006520 INFLAMMATION of the LIVER in non-human animals. MESH:D000820|MESH:D006505|MESH:D007239 C01.436|C06.552.380.315|C22.467 C01|C06.552.380|C22 Animal Hepatitides|Animal Hepatitis|Hepatitides, Animal Animal disease|Digestive system disease Hepatitis, Autoimmune MESH:D019693 DO:DOID:2048 A chronic self-perpetuating hepatocellular INFLAMMATION of unknown cause, usually with HYPERGAMMAGLOBULINEMIA and serum AUTOANTIBODIES. MESH:D001327|MESH:D006521 C06.552.380.350.300|C20.111.567 C06.552.380.350|C20.111 Autoimmune Chronic Hepatitides|Autoimmune Chronic Hepatitis|Autoimmune Hepatitides|Autoimmune Hepatitis|Chronic Hepatitides, Autoimmune|Chronic Hepatitis, Autoimmune|Hepatitides, Autoimmune|Hepatitides, Autoimmune Chronic|Hepatitis, Autoimmune Chronic Digestive system disease|Immune system disease Hepatitis B MESH:D006509 DO:DOID:2043|OMIM:610424 INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. MESH:D000086982|MESH:D006525|MESH:D018347 C01.221.250.500|C01.925.256.430.400|C01.925.440.435|C06.552.380.705.437 C01.221.250|C01.925.256.430|C01.925.440|C06.552.380.705 HBV, RESISTANCE TO, INCLUDED|HBV, SUSCEPTIBILITY TO HEPATITIS B VIRUS, RESISTANCE TO, INCLUDED|Hepatitis B Virus Infection|HEPATITIS B VIRUS, SUSCEPTIBILITY TO Digestive system disease|Viral disease Hepatitis B, Chronic MESH:D019694 INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. MESH:D006509|MESH:D006521 C01.221.250.500.100|C01.925.256.430.400.100|C01.925.440.435.100|C06.552.380.350.100|C06.552.380.705.437.100|C23.550.291.500.477.500 C01.221.250.500|C01.925.256.430.400|C01.925.440.435|C06.552.380.350|C06.552.380.705.437|C23.550.291.500.477 Chronic Hepatitis B|Chronic Hepatitis B Virus Infection|Hepatitis B Virus Infection, Chronic Digestive system disease|Pathology (process)|Viral disease Hepatitis C MESH:D006526 DO:DOID:1883|OMIM:609532 INFLAMMATION of the LIVER in humans caused by HEPATITIS C VIRUS, a single-stranded RNA virus. Its incubation period is 30-90 days. Hepatitis C is transmitted primarily by contaminated blood parenterally and is often associated with transfusion and intravenous drug abuse. However, in a significant number of cases, the source of hepatitis C infection is unknown. MESH:D000086982|MESH:D006525|MESH:D018178 C01.221.250.750|C01.925.440.440|C01.925.782.350.350|C06.552.380.705.440 C01.221.250|C01.925.440|C01.925.782.350|C06.552.380.705 HCV, RESISTANCE TO, INCLUDED|HCV, SUSCEPTIBILITY TO HEPATITIS C VIRUS, RESISTANCE TO, INCLUDED|HEPATITIS C VIRUS INFECTION, RESPONSE TO THERAPY OF, INCLUDED|HEPATITIS C VIRUS, SUSCEPTIBILITY TO|Hepatitis, Viral, Non-A, Non-B, Parenterally-Transmitted|Parenterally Transmitted Non A, Non B Hepatitis|Parenterally-Transmitted Non-A, Non-B Hepatitis|PT-NANBH Digestive system disease|Viral disease Hepatitis C, Chronic MESH:D019698 INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS. MESH:D006521|MESH:D006526 C01.221.250.750.120|C01.925.440.440.120|C01.925.782.350.350.120|C06.552.380.350.120|C06.552.380.705.440.120|C23.550.291.500.477.750 C01.221.250.750|C01.925.440.440|C01.925.782.350.350|C06.552.380.350|C06.552.380.705.440|C23.550.291.500.477 Chronic Hepatitis C Digestive system disease|Pathology (process)|Viral disease Hepatitis, Chronic MESH:D006521 DO:DOID:2237 INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors. MESH:D002908|MESH:D006505 C06.552.380.350|C23.550.291.500.477 C06.552.380|C23.550.291.500 Chronic Active Hepatitis|Chronic Hepatitis|Chronic Hepatitis, Cryptogenic|Chronic Persistent Hepatitides|Chronic Persistent Hepatitis|Cryptogenic Chronic Hepatitis|Hepatitis, Chronic Active|Hepatitis, Chronic, Cryptogenic|Hepatitis, Chronic Persistent|Hepatitis, Cryptogenic Chronic Digestive system disease|Pathology (process) Hepatitis D MESH:D003699 DO:DOID:2047 INFLAMMATION of the LIVER in humans caused by HEPATITIS DELTA VIRUS, a defective RNA virus that can only infect HEPATITIS B patients. For its viral coating, hepatitis delta virus requires the HEPATITIS B SURFACE ANTIGENS produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. MESH:D006525|MESH:D012327 C01.925.440.450|C01.925.782.450|C06.552.380.705.450 C01.925.440|C01.925.782|C06.552.380.705 Amazon Black Fever|Black Fever, Amazon|Delta Hepatitis|Delta Infection|Delta Superinfection|Delta Superinfections|Disease, Labrea|Diseases, Labrea|Fever, Amazon Black|Hepatitides, Delta|Hepatitis, Delta|Infection, Delta|Infections, Delta|Labrea Disease|Labrea Diseases|Superinfection, Delta|Superinfections, Delta Digestive system disease|Viral disease Hepatitis D, Chronic MESH:D019701 INFLAMMATION of the LIVER in humans caused by HEPATITIS DELTA VIRUS in conjunction with HEPATITIS B VIRUS and lasting six months or more. MESH:D003699|MESH:D006521 C01.925.440.450.100|C01.925.782.450.100|C06.552.380.350.220|C06.552.380.705.450.100|C23.550.291.500.477.875 C01.925.440.450|C01.925.782.450|C06.552.380.350|C06.552.380.705.450|C23.550.291.500.477 Chronic Delta Hepatitides|Chronic Delta Hepatitis|Chronic Hepatitis D|Delta Hepatitides, Chronic|Delta Hepatitis, Chronic|Hepatitides, Chronic Delta|Hepatitis, Chronic Delta Digestive system disease|Pathology (process)|Viral disease Hepatitis E MESH:D016751 DO:DOID:4411 Acute INFLAMMATION of the LIVER in humans; caused by HEPATITIS E VIRUS, a non-enveloped single-stranded RNA virus. Similar to HEPATITIS A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission. MESH:D006525|MESH:D012327 C01.925.440.470|C01.925.782.455|C06.552.380.705.470 C01.925.440|C01.925.782|C06.552.380.705 Enterically Transmitted Non A, Non B Hepatitis|Enterically-Transmitted Non-A, Non-B Hepatitis|Epidemic Non A, Non B Hepatitis|Epidemic Non-A, Non-B Hepatitis|ET-NANBH|Hepatitides, Water-Borne|Hepatitis, Viral, Non-A, Non-B, Enterically-Transmitted|Hepatitis, Water Borne|Hepatitis, Water-Borne|Water-Borne Hepatitides|Water-Borne Hepatitis Digestive system disease|Viral disease Hepatitis, Infectious Canine MESH:D006522 A contagious disease caused by canine adenovirus (ADENOVIRUSES, CANINE) infecting the LIVER, the EYE, the KIDNEY, and other organs in dogs, other canids, and bears. Symptoms include FEVER; EDEMA; VOMITING; and DIARRHEA. MESH:D000257|MESH:D004283|MESH:D006524 C01.436.430.440|C01.925.256.076.381|C01.925.407.432|C06.552.380.315.430.440|C22.268.465|C22.467.435.442 C01.436.430|C01.925.256.076|C01.925.407|C06.552.380.315.430|C22.268|C22.467.435 Canine Hepatitides, Infectious|Canine Hepatitis, Infectious|Canine Infectious Hepatitides|Canine Infectious Hepatitis|Hepatitides, Canine Infectious|Hepatitides, Infectious Canine|Hepatitis, Canine Infectious|Infectious Canine Hepatitides|Infectious Canine Hepatitis|Infectious Hepatitides, Canine|Infectious Hepatitis, Canine Animal disease|Digestive system disease|Viral disease Hepatitis, Viral, Animal MESH:D006524 DO:DOID:1884 INFLAMMATION of the LIVER in animals due to viral infection. MESH:D006520|MESH:D014777 C01.436.430|C01.925.407|C06.552.380.315.430|C22.467.435 C01.436|C01.925|C06.552.380.315|C22.467 Animal Viral Hepatitides|Animal Viral Hepatitis|Viral Hepatitides, Animal|Viral Hepatitis, Animal Animal disease|Digestive system disease|Viral disease Hepatitis, Viral, Human MESH:D006525 INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission (HEPATITIS A; HEPATITIS E) or blood transfusion (HEPATITIS B; HEPATITIS C; and HEPATITIS D). MESH:D006505|MESH:D014777 C01.925.440|C06.552.380.705 C01.925|C06.552.380 Human Viral Hepatitides|Human Viral Hepatitis|Viral Hepatitides, Human|Viral Hepatitis, Human Digestive system disease|Viral disease Hepatoblastoma MESH:D018197 DO:DOID:687 A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed) MESH:D018193 C04.557.435.380 C04.557.435 Hepatoblastomas Cancer Hepatoblastoma Caused By Somatic Mutation MESH:C567299 MESH:D006528 C04.557.470.200.025.255/C567299|C04.588.274.623.160/C567299|C06.301.623.160/C567299|C06.552.697.160/C567299 C04.557.470.200.025.255|C04.588.274.623.160|C06.301.623.160|C06.552.697.160 Cancer|Digestive system disease Hepatolenticular Degeneration MESH:D006527 DO:DOID:893|OMIM:277900 A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. MESH:D001480|MESH:D008107|MESH:D008664|MESH:D009069|MESH:D020271|MESH:D020739 C06.552.413|C10.228.140.079.493|C10.228.140.163.100.360|C10.228.662.400|C10.574.500.487|C16.320.400.361|C16.320.565.189.360|C16.320.565.618.403|C18.452.132.100.360|C18.452.648.189.360|C18.452.648.618.403 C06.552|C10.228.140.079|C10.228.140.163.100|C10.228.662|C10.574.500|C16.320.400|C16.320.565.189|C16.320.565.618|C18.452.132.100|C18.452.648.189|C18.452.648.618 Cerebral Pseudoscleroses|Cerebral Pseudosclerosis|Copper Storage Disease|Copper Storage Diseases|Degeneration, Hepatocerebral|Degeneration, Hepatolenticular|Degeneration, Neurohepatic|Degeneration, Progressive Lenticular|Degenerations, Hepatocerebral|Degenerations, Neurohepatic|Degeneration Syndrome, Hepatolenticular|Degeneration Syndromes, Hepatolenticular|Disease, Copper Storage|Diseases, Copper Storage|Diseases, Hepato-Neurologic Wilson|Diseases, Kinnier-Wilson|Hepatic Form of Wilson Disease|Hepatocerebral Degeneration|Hepatocerebral Degenerations|HEPATOLENTICULAR DEGENERATION|Hepatolenticular Degeneration Syndrome|Hepatolenticular Degeneration Syndromes|Hepato Neurologic Wilson Disease|Hepato-Neurologic Wilson Disease|Hepato-Neurologic Wilson Diseases|Kinnier Wilson Disease|Kinnier-Wilson Disease|Kinnier-Wilson Diseases|Lenticular Degeneration, Progressive|Neurohepatic Degeneration|Neurohepatic Degenerations|Progressive Lenticular Degeneration|Pseudoscleroses, Cerebral|Pseudosclerosis|Pseudosclerosis, Cerebral|Storage Disease, Copper|Storage Diseases, Copper|Syndrome, Hepatolenticular Degeneration|Syndromes, Hepatolenticular Degeneration|WD|Westphal Strumpell Syndrome|Westphal-Strumpell Syndrome|Westphal-Strumpell Syndromes|Wilson Disease|Wilson Disease, Hepatic Form|Wilson Disease, Hepato-Neurologic|Wilson Diseases, Hepato-Neurologic|Wilson's Disease|Wilsons Disease|WND Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Hepatomegaly MESH:D006529 Enlargement of the liver. MESH:D006984|MESH:D008107 C06.552.416|C23.300.775.525 C06.552|C23.300.775 Enlarged Liver|Liver, Enlarged Digestive system disease|Pathology (anatomical condition) Hepatopulmonary Syndrome MESH:D020065 DO:DOID:900 A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL). MESH:D008107|MESH:D008171 C06.552.455|C08.381.385 C06.552|C08.381 Hepato Pulmonary Syndrome|Hepato-Pulmonary Syndrome|Hepatopulmonary Syndromes|Hepato-Pulmonary Syndromes|Syndrome, Hepatopulmonary|Syndrome, Hepato-Pulmonary|Syndromes, Hepatopulmonary|Syndromes, Hepato-Pulmonary Digestive system disease|Respiratory tract disease Hepatorenal form of glycogen storage disease MESH:C538655 OMIM:232200 MESH:D005953 C16.320.565.202.449.448/C538655|C18.452.648.202.449.448/C538655 C16.320.565.202.449.448|C18.452.648.202.449.448 GLUCOSE-6-PHOSPHATASE DEFICIENCY|GLYCOGEN STORAGE DISEASE I|GLYCOGEN STORAGE DISEASE Ia|Glycogen storage disease type IA|GSD1|GSD1A|GSD Ia|HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE|Hepatorenal glycogenosis|VON GIERKE DISEASE Genetic disease (inborn)|Metabolic disease Hepatorenal Syndrome MESH:D006530 DO:DOID:11823 Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention. MESH:D007674|MESH:D008107 C06.552.465|C12.050.351.968.419.291|C12.200.777.419.291|C12.950.419.291 C06.552|C12.050.351.968.419|C12.200.777.419|C12.950.419 Syndrome, Hepatorenal Digestive system disease|Urogenital disease (female)|Urogenital disease (male) Hereditary alpha-tryptasemia syndrome MESH:C000715748 MESH:D000090267 C20.762.500/C000715748 C20.762.500 Hereditary alpha-tryptasemia Immune system disease Hereditary Angioedema Type III MESH:D056828 DO:DOID:0080940|OMIM:610618 A form of hereditary angioedema that occurs in women and is precipitated or worsened by high ESTROGEN levels. It is associated with mutations in the gene for FACTOR XII that result in its increased activity. MESH:D054179 C14.907.079.500.500|C17.800.862.945.066.500.500|C20.543.480.904.066.500.500 C14.907.079.500|C17.800.862.945.066.500|C20.543.480.904.066.500 Angioedema, Estrogen-Sensitive Hereditary|ANGIOEDEMA, HEREDITARY, 3|Angioedema, Hereditary, Type III|Angioedemas, Estrogen-Sensitive Hereditary|Angioneurotic Edema, Hereditary, with Normal C1 Inhibitor Concentration and Function|Estrogen Related HAE|Estrogen-Related HAE|Estrogen-Related HAEs|Estrogen Sensitive HAE|Estrogen-Sensitive HAE|Estrogen-Sensitive HAEs|Estrogen Sensitive Hereditary Angioedema|Estrogen-Sensitive Hereditary Angioedema|Estrogen-Sensitive Hereditary Angioedemas|HAE3|HAE, Estrogen-Related|HAE, Estrogen-Sensitive|HAEs, Estrogen-Related|HAEs, Estrogen-Sensitive|HAE with Normal C1 Inhibitor Concentration and Function|Hereditary Angioedema, Estrogen-Sensitive|Hereditary Angioedemas, Estrogen-Sensitive|Hereditary Angioedema with Normal C1 Inhibitor Activity Cardiovascular disease|Immune system disease|Skin disease Hereditary Angioedema Types I and II MESH:D056829 Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein. MESH:D054179 C14.907.079.500.750|C17.800.862.945.066.500.750|C20.543.480.904.066.500.750 C14.907.079.500|C17.800.862.945.066.500|C20.543.480.904.066.500 Angioedema, Hereditary, Type I|Angioedema, Hereditary, Type II|Angioedema, Hereditary, Types I and II|C1 Esterase Inhibitor, Deficiency Of|Deficiency of C1 Esterase Inhibitor|Hereditary Angioedema Type 1|Hereditary Angioedema Type I|Hereditary Angioedema Type II Cardiovascular disease|Immune system disease|Skin disease Hereditary Autoinflammatory Diseases MESH:D056660 Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES. MESH:D012873|MESH:D030342 C16.320.382|C17.800.827.368 C16.320|C17.800.827 Autoinflammation Disease, Hereditary|Autoinflammation Diseases, Hereditary|Autoinflammatory Disease, Hereditary|Autoinflammatory Diseases, Hereditary|Disease, Hereditary Autoinflammation|Disease, Hereditary Autoinflammatory|Disease, Reimann Periodic|Diseases, Hereditary Autoinflammation|Diseases, Hereditary Autoinflammatory|Disease, Siegal-Cattan-Mamou|Diseases, Reimann Periodic|Fever, Hereditary Recurrent|Fevers, Hereditary Recurrent|Hereditary Autoinflammation Disease|Hereditary Autoinflammation Diseases|Hereditary Autoinflammatory Disease|Hereditary Periodic Fever Syndromes|Hereditary Recurrent Fever|Hereditary Recurrent Fevers|Periodic Disease, Reimann|Periodic Diseases, Reimann|Recurrent Fever, Hereditary|Recurrent Fevers, Hereditary|Reimann Periodic Disease|Reimann Periodic Diseases|Siegal Cattan Mamou Disease|Siegal-Cattan-Mamou Disease Genetic disease (inborn)|Skin disease Hereditary Breast and Ovarian Cancer Syndrome MESH:D061325 DO:DOID:5683 Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a significantly increased risk for breast and ovarian cancers. MESH:D001943|MESH:D009386|MESH:D010051 C04.588.180.483|C04.588.322.455.431|C04.700.517|C12.050.351.500.056.630.705.431|C12.050.351.937.418.685.431|C12.100.250.056.630.705.431|C12.900.418.685.431|C16.320.700.517|C17.800.090.500.483|C19.344.410.431|C19.391.630.705.431 C04.588.180|C04.588.322.455|C04.700|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C16.320.700|C17.800.090.500|C19.344.410|C19.391.630.705 HBOC Syndrome|HBOC Syndromes|Syndrome, HBOC|Syndromes, HBOC Cancer|Endocrine system disease|Genetic disease (inborn)|Skin disease|Urogenital disease (female) Hereditary bundle branch system defect MESH:C566873 MESH:D000075224|MESH:D006327 C14.280.067.558/C566873|C14.280.123.500/C566873|C14.280.123/C566873|C23.550.073.425/C566873 C14.280.067.558|C14.280.123|C14.280.123.500|C23.550.073.425 Cardiac conduction defect, progressive|Heart block progressive, familial|Heart block, progressive familial, type 1|Heart Block, Progressive Familial, Type I|Lenegre Lev disease|Lenegre-Lev Disease|Pfhb1a|Pfhbi|PfhbIa|Progressive Familial Heart Block, Type Ia Cardiovascular disease|Pathology (process) Hereditary Central Nervous System Demyelinating Diseases MESH:D020279 Inherited conditions characterized by a loss of MYELIN in the central nervous system. MESH:D003711|MESH:D020271|MESH:D020739|MESH:D056784 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 C10.228.140.163.100|C10.228.140.695|C10.314|C10.574.500|C16.320.400|C16.320.565.189|C18.452.132.100|C18.452.648.189 Central Nervous System Demyelinating Diseases, Hereditary|Central Nervous System Demyelinating Hereditary Diseases|Central Nervous System Hereditary Demyelinating Diseases|Demyelinating Central Nervous System Diseases, Hereditary|Demyelinating Diseases, Central Nervous System, Hereditary|Hereditary Demyelinating Diseases, Central Nervous System Genetic disease (inborn)|Metabolic disease|Nervous system disease Hereditary Complement Deficiency Diseases MESH:D000081208 DO:DOID:626 Genetic disorders due to mutations in genes involved in COMPLEMENT SYSTEM PROTEINS. They are often classified into distinct pathway of complement activation where causative mutations are found (e.g., classical pathway, lectin pathway, alternative pathway, and terminal complement pathway). MESH:D000081207 C16.320.798.500|C20.673.795.500 C16.320.798|C20.673.795 Complement Deficiencies|Complement Deficiency|Inherited Complement Deficiency Diseases Genetic disease (inborn)|Immune system disease Hereditary Diffuse Leukoencephalopathy with Spheroids MESH:C580150 OMIM:221820 MESH:D056784 C10.228.140.695/C580150 C10.228.140.695 Adult-Onset Leukodystrophy with Neuroaxonal Spheroids|ALSP|Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids|Dementia, Familial, Neumann Type|Gliosis, Familial Progressive Subcortical|GPSC|HDLS1|Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids|LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA|Leukoencephalopathy, Diffuse Hereditary, With Spheroids|LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1|Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant|Neuroaxonal Leukodystrophy|Subcortical Gliosis of Neumann Nervous system disease Hereditary koilonychia MESH:C537260 MESH:D009264 C23.300.820/C537260 C23.300.820 Congenital koilonychia|Familial koilonychia|Koilonychia, Hereditary Pathology (anatomical condition) Hereditary leiomyomatosis and renal cell cancer MESH:C535516 OMIM:150800 MESH:D009386|MESH:D012878|MESH:D014594|MESH:D018231 C04.557.450.590.450.465/C535516|C04.588.805/C535516|C04.588.945.418.948/C535516|C04.700/C535516|C12.050.351.500.852.762/C535516|C12.050.351.937.418.875/C535516|C12.100.250.852.762/C535516|C12.900.418.875/C535516|C16.320.700/C535516|C17.800.882/C535516 C04.557.450.590.450.465|C04.588.805|C04.588.945.418.948|C04.700|C12.050.351.500.852.762|C12.050.351.937.418.875|C12.100.250.852.762|C12.900.418.875|C16.320.700|C17.800.882 Cutaneous leiomyomata with uterine leiomyomata|HLRCC|Leiomyoma, hereditary multiple, of skin|Leiomyoma, multiple cutaneous|Leiomyomatosis and renal cell cancer, hereditary|LRCC|MCL|MCUL1|Multiple cutaneous and uterine leiomyomata 1|MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA|Multiple cutaneous and uterine leiomyomatosis|Reed's syndrome Cancer|Genetic disease (inborn)|Skin disease|Urogenital disease (female) Hereditary macular coloboma MESH:C535968 MESH:D003103 C11.250.110/C535968|C11.270.147/C535968|C16.131.384.282/C535968 C11.250.110|C11.270.147|C16.131.384.282 Agenesis of macula|Coloboma of macula|Macular coloboma Congenital abnormality|Eye disease Hereditary Motor And Sensory Neuropathy, Type IIC MESH:C565261 OMIM:606071 MESH:D002607 C10.500.300.200/C565261|C10.574.500.495.200/C565261|C10.668.829.800.300.200/C565261|C16.131.666.300.200/C565261|C16.320.400.375.200/C565261 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C|Charcot-Marie-Tooth Neuropathy, Type 2C|CMT2C|HMSN2C|HMSN IIC Congenital abnormality|Genetic disease (inborn)|Nervous system disease Hereditary Motor And Sensory Neuropathy VI MESH:C562851 OMIM:601152 MESH:D015417 C10.500.300/C562851|C10.574.500.495/C562851|C10.668.829.800.300/C562851|C16.131.666.300/C562851|C16.320.400.375/C562851 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 Charcot-Marie-Tooth Disease, Type 6|CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A|CMT6|CMT6A|HMSN6|HMSN6A|HMSN VI|HMSN VIA|NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI|NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY|Peripheral Neuropathy And Optic Atrophy Congenital abnormality|Genetic disease (inborn)|Nervous system disease Hereditary Myopathy with Early Respiratory Failure MESH:C566343 OMIM:603689 MESH:D009135|MESH:D012131|MESH:D030342 C05.651/C566343|C08.618.846/C566343|C10.668.491/C566343|C16.320/C566343 C05.651|C08.618.846|C10.668.491|C16.320 Edstrom Myopathy|HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE|HMERF|MFM9|MPRM|Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant|MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE|Myopathy, Proximal, with Early Respiratory Muscle Involvement Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Respiratory tract disease Hereditary pancreatitis MESH:C537262 OMIM:167800 MESH:D050500 C06.689.750.830/C537262|C23.550.291.500.750/C537262 C06.689.750.830|C23.550.291.500.750 Autosomal Dominant Hereditary Pancreatitis|Familial Pancreatitis|Hereditary Chronic Pancreatitis|HP|HPC|PANCREATITIS, CALCIFIC, INCLUDED|PANCREATITIS, CHRONIC PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED|PANCREATITIS, CHRONIC, PROTECTION AGAINST, INCLUDED|Pancreatitis, Hereditary|PCTT Digestive system disease|Pathology (process) Hereditary renal agenesis MESH:C536482 OMIM:191830 MESH:D000013|MESH:D007674 C12.050.351.968.419/C536482|C12.200.777.419/C536482|C12.950.419/C536482|C16.131/C536482 C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131 Bilateral renal agenesis|HEREDITARY RENAL APLASIA|HRA|Potter Syndrome|RENAL ADYSPLASIA|Renal agenesis|RENAL APLASIA|RENAL HYPODYSPLASIA/APLASIA 1|RHDA1|Urogenital adysplasia, hereditary Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Hereditary Renal Cancer Associated 1 MESH:C564169 MESH:D007680 C04.588.945.947.535/C564169|C12.050.351.937.820.535/C564169|C12.050.351.968.419.473/C564169|C12.200.758.820.750/C564169|C12.200.777.419.473/C564169|C12.900.820.535/C564169|C12.950.419.473/C564169|C12.950.983.535/C564169 C04.588.945.947.535|C12.050.351.937.820.535|C12.050.351.968.419.473|C12.200.758.820.750|C12.200.777.419.473|C12.900.820.535|C12.950.419.473|C12.950.983.535 Renal Carcinoma, Familial, Associated 1 Cancer|Urogenital disease (female)|Urogenital disease (male) Hereditary Sensory and Autonomic Neuropathies MESH:D009477 DO:DOID:0050548|DO:DOID:0070145|DO:DOID:0070146|DO:DOID:0070161|DO:DOID:0070162|DO:DOID:2491|OMIM:256800|OMIM:608654 A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4) MESH:D009421|MESH:D011115|MESH:D020271 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 C10.500|C10.574.500|C10.668.829.800|C16.131.666|C16.320.400 Acroosteolyses, Neurogenic|Acroosteolysis, Giaccai Type|Acroosteolysis, Neurogenic|CIPA|Congenital Insensitivity to Pain with Anhidrosis|Congenital Sensory Neuropathies|Congenital Sensory Neuropathy|Familial Dysautonomia, Type 2|Familial Dysautonomia, Type II|Giaccai Type Acroosteolysis|Hereditary Sensory and Autonomic Neuropathy 4|Hereditary Sensory And Autonomic Neuropathy IV|Hereditary Sensory and Autonomic Neuropathy Type 1|Hereditary Sensory and Autonomic Neuropathy Type 2|Hereditary Sensory and Autonomic Neuropathy, Type 4|Hereditary Sensory and Autonomic Neuropathy, Type 5|Hereditary Sensory and Autonomic Neuropathy Type I|Hereditary Sensory and Autonomic Neuropathy Type II|Hereditary Sensory and Autonomic Neuropathy Type IV|Hereditary Sensory and Autonomic Neuropathy Type V|Hereditary Sensory Autonomic Neuropathy, Type 1|Hereditary Sensory Autonomic Neuropathy, Type 2|Hereditary Sensory Autonomic Neuropathy, Type 4|Hereditary Sensory Autonomic Neuropathy, Type 5|Hereditary Sensory Neuropathies|Hereditary Sensory Neuropathy|Hereditary Sensory Neuropathy Type 1|Hereditary Sensory Neuropathy Type I|Hereditary Sensory Neuropathy Type Ia|Hereditary Sensory Radicular Neuropathy|Hereditary Sensory Radicular Neuropathy, Recessive Form|HSAN|HSAN 1|HSAN2|HSAN 4|HSAN4|HSAN 5|HSAN5|HSAN (Hereditary Sensory Autonomic Neuropathy)|HSAN I|HSANII|HSAN IV|HSANs (Hereditary Sensory Autonomic Neuropathy)|HSAN Type I|HSAN Type II|HSAN Type IV|HSAN Type V|HSAN V|HSN Type I|HSN Type II|HSN Type IIs|INSENSITIVITY TO PAIN, CONGENITAL|Insensitivity to Pain, Congenital, with Anhidrosis|Insensitivity to Pain with Anhidrosis, Congenital|Neurogenic Acroosteolyses|Neurogenic Acroosteolysis|Neuropathies, Congenital Sensory|Neuropathies, Hereditary Sensory|Neuropathies, Hereditary Sensory and Autonomic|Neuropathy, Congenital Sensory|Neuropathy, Congenital Sensory, with Anhidrosis|Neuropathy, Hereditary Sensory|Neuropathy Hereditary Sensory and Autonomic Type 1|Neuropathy, Hereditary Sensory And Autonomic, Type I|Neuropathy, Hereditary Sensory And Autonomic, Type V|Neuropathy Hereditary Sensory Radicular, Autosomal Dominant|Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant|Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive|Neuropathy, Hereditary Sensory, Type I|Neuropathy, Progressive Sensory, Of Children|Pain Insensitivity with Anhidrosis, Congenital|Sensory and Autonomic Neuropathies, Hereditary|Sensory Neuropathies, Congenital|Sensory Neuropathies, Hereditary|Sensory Neuropathy, Congenital|Sensory Neuropathy, Hereditary|Type I, HSAN|Type I, HSN|Type IV, HSAN Congenital abnormality|Genetic disease (inborn)|Nervous system disease Hereditary Sensory and Autonomic Neuropathy Type Ie MESH:C580162 MESH:D009477 C10.500.250/C580162|C10.574.500.493/C580162|C10.668.829.800.175/C580162|C16.131.666.310/C580162|C16.320.400.415/C580162 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy|Hereditary Sensory and Autonomic Neuropathy Type 1 with Dementia and Hearing Loss|Hereditary Sensory Neuropathy Type Ie|Hsnie|Hsn Ie Congenital abnormality|Genetic disease (inborn)|Nervous system disease Hereditary Sensory and Motor Neuropathy MESH:D015417 DO:DOID:2477|OMIM:145900 A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) MESH:D009421|MESH:D011115|MESH:D020271 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 C10.500|C10.574.500|C10.668.829.800|C16.131.666|C16.320.400 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f|Charcot Marie Tooth Disease, Type 3|Charcot-Marie-Tooth Disease, Type 3|CMT3|CMT4f|Dejerine Sottas Disease|Dejerine-Sottas Disease|Dejerine-Sottas Hypertrophic Neuropathy|Dejerine Sottas Neuropathy|Dejerine-Sottas Neuropathy|Dejerine Sottas Syndrome|Dejerine-Sottas Syndrome|Disease, Dejerine-Sottas|DSN|DSS|Herditary Sensory and Motor Neuropathy|Hereditary Motor and Sensory Neuropathies|Hereditary Motor and Sensory Neuropathy|Hereditary Motor and Sensory Neuropathy 3|Hereditary Motor and Sensory Neuropathy Type III|Hereditary, Type III, Motor and Sensory Neuropathy|Hereditary, Type VII, Motor and Sensory Neuropathy|HMSN|HMSN3|HMSN Type III|HMSN Type IIIs|HMSN Type VII|HMSN Type VIIs|Hypertrophic Neuropathy of Dejerine Sottas|Hypertrophic Neuropathy of Dejerine-Sottas|Neuropathies, Hereditary Motor and Sensory|Neuropathy, Dejerine-Sottas|Syndrome, Dejerine-Sottas|Type VII, HMSN Congenital abnormality|Genetic disease (inborn)|Nervous system disease Hereditary spastic paralysis, infantile onset ascending MESH:C537217 OMIM:607225 MESH:D015419 C10.500.300.820/C537217|C10.574.500.495.820/C537217|C10.668.829.800.300.820/C537217|C16.131.666.300.820/C537217|C16.320.400.375.820/C537217 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Iahsp|Infantile-Onset Ascending Hereditary Spastic Paralysis|Spastic Paralysis, Infantile Onset Ascending|Spastic Paralysis, Infantile-Onset Ascending Congenital abnormality|Genetic disease (inborn)|Nervous system disease Hereditary spinal ataxia MESH:C531684 MESH:D013132 C10.228.140.252.700/C531684|C10.228.854.787/C531684|C10.574.500.825/C531684|C16.320.400.780/C531684 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 Genetic disease (inborn)|Nervous system disease Hereditary vertical nystagmus MESH:C537857 MESH:D009759 C10.292.562.675/C537857|C11.590.400/C537857 C10.292.562.675|C11.590.400 Congenital hereditary vertical nystagmus|Nystagmus, hereditary vertical Eye disease|Nervous system disease Heredodegenerative Disorders, Nervous System MESH:D020271 Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. MESH:D019636|MESH:D030342 C10.574.500|C16.320.400 C10.574|C16.320 Degenerative Disease, Nervous System, Hereditary|Degenerative Hereditary Diseases, Nervous System|Degenerative Hereditary Disorders, Nervous System|Disease, Hereditary Neurodegenerative|Disease, Neurodegenerative Hereditary|Diseases, Hereditary Neurodegenerative|Diseases, Neurodegenerative Hereditary|Hereditary Degenerative Disorders, Nervous System|Hereditary-Degenerative Disorders, Nervous System|Hereditary Disease, Neurodegenerative|Hereditary Diseases, Neurodegenerative|Hereditary Neurodegenerative Disease|Hereditary Neurodegenerative Diseases|Nervous System Degenerative Hereditary Diseases|Nervous System Diseases, Degenerative, Hereditary|Nervous System Hereditary Degenerative Diseases|Neurodegenerative Disease, Hereditary|Neurodegenerative Diseases, Hereditary|Neurodegenerative Hereditary Disease|Neurodegenerative Hereditary Diseases Genetic disease (inborn)|Nervous system disease Hermanski-Pudlak Syndrome MESH:D022861 DO:DOID:3753|OMIM:614072|OMIM:614073|OMIM:614074|OMIM:614075|OMIM:614076|OMIM:614077|OMIM:614171|OMIM:617050 Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin. MESH:D010981|MESH:D016115|MESH:D025861 C11.270.040.545.400|C15.378.100.100.515|C15.378.100.685.400|C15.378.140.735.400|C15.378.463.735.400|C16.320.099.515|C16.320.290.040.100.400|C16.320.565.100.102.100.400|C16.320.850.080.100.400|C17.800.621.440.102.100.400|C17.800.827.080.100.400|C18.452.648.100.102.100.400 C11.270.040.545|C15.378.100.100|C15.378.100.685|C15.378.140.735|C15.378.463.735|C16.320.099|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100 Hermanski Pudlak Syndrome|Hermansky Pudlak Syndrome|Hermansky-Pudlak Syndrome|HERMANSKY-PUDLAK SYNDROME 10|HERMANSKY-PUDLAK SYNDROME 3|HERMANSKY-PUDLAK SYNDROME 4|HERMANSKY-PUDLAK SYNDROME 5|HERMANSKY-PUDLAK SYNDROME 6|HERMANSKY-PUDLAK SYNDROME 7|HERMANSKY-PUDLAK SYNDROME 8|HERMANSKY-PUDLAK SYNDROME 9|HPS10|HPS3|HPS4|HPS5|HPS6|HPS7|HPS8|HPS9 Blood disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Hermansky Pudlak syndrome 2 MESH:C537709 DO:DOID:0060540|OMIM:608233 MESH:D022861 C11.270.040.545.400/C537709|C15.378.100.100.515/C537709|C15.378.100.685.400/C537709|C15.378.140.735.400/C537709|C15.378.463.735.400/C537709|C16.320.099.515/C537709|C16.320.290.040.100.400/C537709|C16.320.565.100.102.100.400/C537709|C16.320.850.080.100.400/C537709|C17.800.621.440.102.100.400/C537709|C17.800.827.080.100.400/C537709|C18.452.648.100.102.100.400/C537709 C11.270.040.545.400|C15.378.100.100.515|C15.378.100.685.400|C15.378.140.735.400|C15.378.463.735.400|C16.320.099.515|C16.320.290.040.100.400|C16.320.565.100.102.100.400|C16.320.850.080.100.400|C17.800.621.440.102.100.400|C17.800.827.080.100.400|C18.452.648.100.102.100.400 Hermansky-Pudlak syndrome 2|HPS2|Platelet defects and oculocutaneous albinism Blood disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Hernandez Aguirre-Negrete syndrome MESH:C538112 MESH:D004535 C14.907.454.240/C538112|C15.378.463.515.240/C538112|C16.131.831.428/C538112|C16.320.850.260/C538112|C17.300.200.310/C538112|C17.800.804.428/C538112|C17.800.827.260/C538112 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 Ehlers-Danlos syndrome with progeroid facies and mild mental retardation|Hernández Aguirre-Negrete syndrome Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Hernandez Fragoso syndrome MESH:C536062 MESH:D005128|MESH:D010024|MESH:D012871|MESH:D017496 C05.116.198.579/C536062|C11/C536062|C17.800.621.440/C536062|C17.800/C536062|C18.452.104.579/C536062 C05.116.198.579|C11|C17.800|C17.800.621.440|C18.452.104.579 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome|Osteoporosis oculocutaneous hypopigmentation syndrome Eye disease|Metabolic disease|Musculoskeletal disease|Skin disease Hernia MESH:D006547 DO:DOID:1283 Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the ABDOMINAL WALL or the respiratory DIAPHRAGM. Hernias may be internal, external, congenital, or acquired. MESH:D020763 C23.300.707 C23.300 Enterocele|Hernias Pathology (anatomical condition) Hernia, Abdominal MESH:D046449 A protrusion of abdominal structures through the retaining ABDOMINAL WALL. It involves two parts: an opening in the abdominal wall, and a hernia sac consisting of PERITONEUM and abdominal contents. Abdominal hernias include groin hernia (HERNIA, FEMORAL; HERNIA, INGUINAL) and VENTRAL HERNIA. MESH:D006547 C23.300.707.374 C23.300.707 Abdominal Hernia|Abdominal Hernias|Abdominal Wall Hernia|Abdominal Wall Hernias|Hernia, Abdominal Wall|Hernias, Abdominal|Hernias, Abdominal Wall Pathology (anatomical condition) Hernia, Anterior Diaphragmatic MESH:C564413 MESH:D065630 C16.131.433/C564413|C23.300.707.960.500.116/C564413 C16.131.433|C23.300.707.960.500.116 Congenital abnormality|Pathology (anatomical condition) Hernia, Diaphragmatic MESH:D006548 DO:DOID:3827 Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM. MESH:D000082122 C23.300.707.960.500 C23.300.707.960 Diaphragmatic Hernia|Diaphragmatic Hernias|Hernias, Diaphragmatic Pathology (anatomical condition) Hernia, Diaphragmatic, Traumatic MESH:D006549 The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN. MESH:D000007|MESH:D006548 C23.300.707.960.500.233|C26.017.258 C23.300.707.960.500|C26.017 Diaphragmatic Hernias, Traumatic|Diaphragmatic Hernia, Traumatic|Hernias, Traumatic Diaphragmatic|Hernia, Traumatic Diaphragmatic|Traumatic Diaphragmatic Hernia|Traumatic Diaphragmatic Hernias Pathology (anatomical condition)|Wounds and injuries Hernia, Double Inguinal MESH:C563164 MESH:D006552 C23.300.707.374.875/C563164 C23.300.707.374.875 Pathology (anatomical condition) Hernia, Femoral MESH:D006550 A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL. MESH:D046449 C23.300.707.374.750 C23.300.707.374 Femoral Hernia|Femoral Hernias|Hernias, Femoral Pathology (anatomical condition) Hernia, Hiatal MESH:D006551 DO:DOID:12642 STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus. MESH:D006548 C23.300.707.960.500.467 C23.300.707.960.500 Esophageal Hernia|Esophageal Hernias|Esophageal Hernia, Sliding|Esophageal Hernias, Sliding|Hernia, Esophageal|Hernia, Hiatus|Hernia, Paraesophageal|Hernia, Paraesophageal Hiatal|Hernias, Esophageal|Hernias, Hiatal|Hernias, Hiatus|Hernia, Sliding Esophageal|Hernia, Sliding Hiatal|Hernias, Paraesophageal|Hernias, Paraesophageal Hiatal|Hernias, Sliding Esophageal|Hernias, Sliding Hiatal|Hiatal Hernia|Hiatal Hernia, Paraesophageal|Hiatal Hernias|Hiatal Hernia, Sliding|Hiatal Hernias, Paraesophageal|Hiatal Hernias, Sliding|Hiatus Hernia|Hiatus Hernias|Paraesophageal Hernia|Paraesophageal Hernias|Paraesophageal Hiatal Hernia|Paraesophageal Hiatal Hernias|Sliding Esophageal Hernia|Sliding Esophageal Hernias|Sliding Hiatal Hernia|Sliding Hiatal Hernias Pathology (anatomical condition) Hernia, Inguinal MESH:D006552 DO:DOID:0060320 An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults. MESH:D046449 C23.300.707.374.875 C23.300.707.374 Direct Inguinal Hernia|Direct Inguinal Hernias|Hernia, Direct Inguinal|Hernia, Indirect Inguinal|Hernias, Direct Inguinal|Hernias, Indirect Inguinal|Hernias, Inguinal|Indirect Inguinal Hernia|Indirect Inguinal Hernias|Inguinal Hernia|Inguinal Hernia, Direct|Inguinal Hernia, Indirect|Inguinal Hernias|Inguinal Hernias, Direct|Inguinal Hernias, Indirect Pathology (anatomical condition) Hernia, Obturator MESH:D006553 A pelvic hernia through the obturator foramen, a large aperture in the hip bone normally covered by a membrane. Obturator hernia can lead to intestinal incarceration and INTESTINAL OBSTRUCTION. MESH:D006547 C23.300.707.937 C23.300.707 Hernias, Obturator|Obturator Hernia|Obturator Hernias Pathology (anatomical condition) Hernias, Diaphragmatic, Congenital MESH:D065630 OMIM:142340 Protrusion of abdominal structures into the THORAX as a result of embryologic defects in the DIAPHRAGM often present in the neonatal period. It can be isolated, syndromic, non-syndromic or be a part of chromosome abnormality. Associated pulmonary hypoplasia and PULMONARY HYPERTENSION can further complicate stabilization and surgical intervention. MESH:D000013|MESH:D006548 C16.131.433|C23.300.707.960.500.116 C16.131|C23.300.707.960.500 Agenesis of Hemidiaphragm|Bochdalek Hernia|Bochdalek Hernias|CDH|Congenital Diaphragmatic Defect|Congenital Diaphragmatic Defects|Congenital Diaphragmatic Hernia|Congenital Diaphragmatic Hernias|Defect, Congenital Diaphragmatic|Defects, Congenital Diaphragmatic|Diaphragmatic Defect, Congenital|Diaphragmatic Defects, Congenital|Diaphragmatic Hernia, Congenital|Diaphragmatic Hernias, Congenital|DIAPHRAGM, COMPLETE AGENESIS OF, INCLUDED|Diaphragm Unilateral Ageneses|Diaphragm Unilateral Agenesis|DIAPHRAGM, UNILATERAL AGENESIS OF|DIH|DIH1, INCLUDED|HCD|Hemidiaphragm Ageneses|Hemidiaphragm Agenesis|HEMIDIAPHRAGM, AGENESIS OF DIAPHRAGMATIC HERNIA 1, INCLUDED|Hernia, Bochdalek|Hernia, Congenital Diaphragmatic|Hernia, Morgagni|Hernia, Morgagni's|Hernias, Bochdalek|Hernias, Congenital Diaphragmatic|Hernias, Morgagni|Hernias, Morgagni's|Morgagni Hernia|Morgagni Hernias|Morgagni's Hernia|Morgagnis Hernia|Morgagni's Hernias|Morgagnis Hernias|Unilateral Agenesis of Diaphragm Congenital abnormality|Pathology (anatomical condition) Hernia, Umbilical MESH:D006554 DO:DOID:0060321|DO:DOID:0060327 A HERNIA due to an imperfect closure or weakness of the umbilical ring. It appears as a skin-covered protrusion at the UMBILICUS during crying, coughing, or straining. The hernia generally consists of OMENTUM or SMALL INTESTINE. The vast majority of umbilical hernias are congenital but can be acquired due to severe abdominal distention. MESH:D006555|MESH:D007232 C16.614.378|C23.300.707.374.937.500 C16.614|C23.300.707.374.937 Exomphalos|Hernias, Umbilical|Omphalocele|Omphaloceles|Umbilical Hernia|Umbilical Hernias Infant-newborn disease|Pathology (anatomical condition) Hernia, Ventral MESH:D006555 A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias. MESH:D046449 C23.300.707.374.937 C23.300.707.374 Hernias, Ventral|Ventral Hernia|Ventral Hernias Pathology (anatomical condition) Heroin Dependence MESH:D006556 DO:DOID:9976 Strong dependence or addiction, both physiological and emotional, upon HEROIN. MESH:D009293 C25.775.643.500.400|F03.900.647.500.300 C25.775.643.500|F03.900.647.500 Abuse, Heroin|Addiction, Heroin|Dependence, Heroin|Heroin Abuse|Heroin Addiction|Heroin Smoking|Heroin Smokings|Smoking, Heroin Mental disorder|Substance-related disorder Herpangina MESH:D006557 DO:DOID:10883 Acute types of coxsackievirus infections or ECHOVIRUS INFECTIONS that usually affect children during the summer and are characterized by vesiculoulcerative lesions on the MUCOUS MEMBRANES of the THROAT; DYSPHAGIA; VOMITING, and FEVER. MESH:D003384|MESH:D004457 C01.925.782.687.359.213.466|C01.925.782.687.359.347.500 C01.925.782.687.359.213|C01.925.782.687.359.347 Herpanginas Viral disease Herpes Genitalis MESH:D006558 DO:DOID:8704 Infection of the genitals (GENITALIA) with HERPES SIMPLEX VIRUS in either the males or the females. MESH:D005831|MESH:D005832|MESH:D006561|MESH:D015229 C01.221.812.640.350|C01.778.640.350|C01.925.256.466.382.290|C01.925.813.350|C12.050.351.500.342|C12.100.250.342|C12.100.500.329|C12.100.937.640.350|C12.200.294.329 C01.221.812.640|C01.778.640|C01.925.256.466.382|C01.925.813|C12.050.351.500|C12.100.250|C12.100.500|C12.100.937.640|C12.200.294 Genital Herpes|Genital Herpes Simplex|Herpes, Genital|Herpes Simplex, Genital|Herpes Simplex Virus Genital Infection Urogenital disease (female)|Urogenital disease (male)|Viral disease Herpes Labialis MESH:D006560 Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.) MESH:D006561|MESH:D008047 C01.925.256.466.382.316|C01.925.825.320.320|C07.465.409.466|C17.800.838.790.320.320 C01.925.256.466.382|C01.925.825.320|C07.465.409|C17.800.838.790.320 Blister, Fever|Blisters, Fever|Cold Sore|Cold Sores|Fever Blister|Fever Blisters|Herpes Simplex, Labial|Labial Herpes Simplex|Sore, Cold|Sores, Cold Mouth disease|Skin disease|Viral disease Herpes Simplex MESH:D006561 DO:DOID:8566 A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.) MESH:D006566|MESH:D017193 C01.925.256.466.382|C01.925.825.320|C17.800.838.790.320 C01.925.256.466|C01.925.825|C17.800.838.790 Herpes Simplex Virus Infection Skin disease|Viral disease Herpesviridae Infections MESH:D006566 Virus diseases caused by the HERPESVIRIDAE. MESH:D004266 C01.925.256.466 C01.925.256 B Virus Infection|B Virus Infections|Herpesviridae Infection|Herpesvirus Infection|Herpesvirus Infections|Infection, B Virus|Infection, Herpesviridae|Infection, Herpesvirus|Infections, B Virus|Infections, Herpesviridae|Infections, Herpesvirus Viral disease Herpes Zoster MESH:D006562 DO:DOID:8536 An acute infectious, usually self-limited, disease believed to represent activation of latent varicella-zoster virus (HERPESVIRUS 3, HUMAN) in those who have been rendered partially immune after a previous attack of CHICKENPOX. It involves the SENSORY GANGLIA and their areas of innervation and is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. (From Dorland, 27th ed) MESH:D000073618 C01.925.256.466.930.750 C01.925.256.466.930 Shingles|Zona|Zoster Viral disease Herpes Zoster Ophthalmicus MESH:D006563 Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve. MESH:D006562|MESH:D015828 C01.375.725.450|C01.925.256.466.930.750.466|C01.925.325.450|C11.294.800.450 C01.375.725|C01.925.256.466.930.750|C01.925.325|C11.294.800 Herpes Zoster, Ocular|Ocular Herpes Zoster Eye disease|Viral disease Herpes Zoster Oticus MESH:D016697 DO:DOID:9210 A syndrome characterized by facial palsy in association with a herpetic eruption of the external auditory meatus. This may occasionally be associated with tinnitus, vertigo, deafness, severe otalgia, and inflammation of the pinna. The condition is caused by reactivation of a latent HERPESVIRUS 3, HUMAN infection which causes inflammation of the facial and vestibular nerves, and may occasionally involve additional cranial nerves. (From Adams et al., Principles of Neurology, 6th ed, p757) MESH:D004427|MESH:D005155|MESH:D006562 C01.925.256.466.930.750.733|C07.465.299.750|C09.218.513|C10.292.319.750 C01.925.256.466.930.750|C07.465.299|C09.218|C10.292.319 Auricular Syndrome of Ramsay Hunt|Ganglionitis, Herpetic Geniculate|Geniculate Ganglionitides, Herpetic|Geniculate Ganglionitis, Herpetic|Geniculate Herpes Zoster|Geniculate Neuralgia|Geniculate Neuralgias|Herpes Zoster Auricularis|Herpes Zoster Cephalicus|Herpes Zoster, Geniculate|Herpetic Geniculate Ganglionitides|Herpetic Geniculate Ganglionitis|Neuralgia, Geniculate|Neuralgias, Geniculate|Ramsay Hunt Auricular Syndrome|Ramsay Hunt Syndrome|Syndrome, Ramsay Hunt Ear-nose-throat disease|Mouth disease|Nervous system disease|Viral disease Herrmann syndrome MESH:C538113 MESH:D002524|MESH:D003638|MESH:D003920|MESH:D003929|MESH:D007674|MESH:D009207 C09.218.458.341.186/C538113|C10.228.140.252.190/C538113|C10.597.350.090.500/C538113|C10.597.350.500/C538113|C10.597.751.418.341.186/C538113|C10.668.829.300/C538113|C12.050.351.968.419/C538113|C12.200.777.419/C538113|C12.950.419/C538113|C18.452.394.750/C538113|C19.246.099.937/C538113|C19.246/C538113|C23.888.592.350.090.200/C538113|C23.888.592.350.500/C538113|C23.888.592.763.393.341.186/C538113 C09.218.458.341.186|C10.228.140.252.190|C10.597.350.090.500|C10.597.350.500|C10.597.751.418.341.186|C10.668.829.300|C12.050.351.968.419|C12.200.777.419|C12.950.419|C18.452.394.750|C19.246|C19.246.099.937|C23.888.592.350.090.200|C23.888.592.350.500|C23.888.592.763.393.341.186 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction Ear-nose-throat disease|Endocrine system disease|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Hersh Podruch Weisskopk syndrome MESH:C538114 MESH:D000015|MESH:D006130|MESH:D008831 C05.660.207.620/C538114|C10.500.507.400.500/C538114|C16.131.077/C538114|C16.131.621.207.620/C538114|C16.131.666.507.400.500/C538114|C23.550.393/C538114 C05.660.207.620|C10.500.507.400.500|C16.131.077|C16.131.621.207.620|C16.131.666.507.400.500|C23.550.393 Toluene embryopathy Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process) Heterochromia iridis MESH:C538115 MESH:D007499|MESH:D010859 C11.941.375/C538115|C17.800.621/C538115|C23.550.755/C538115 C11.941.375|C17.800.621|C23.550.755 Asymmetry in the pigmentation of the irides|Pigmentary abnormality of the anterior segment of the eye Eye disease|Pathology (process)|Skin disease Heterotaxy Syndrome MESH:D059446 OMIM:208530 Abnormal thoracoabdominal VISCERA arrangement (visceral heterotaxy) or malformation that involves additional CONGENITAL HEART DEFECTS (e.g., heart isomerism; DEXTROCARDIA) and/or abnormal SPLEEN (e.g., asplenia and polysplenia). Irregularities with the central nervous system, the skeleton and urinary tract are often associated with the syndrome. MESH:D000015|MESH:D006330|MESH:D013158 C14.240.400.592|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.592 C14.240.400|C14.280.400|C15.604.744|C16.131.077|C16.131.240.400 Ambiguus, Situs|Ambiguus Viscerum, Situs|Ambiguus Viscerums, Situs|Asplenia Syndrome|Asplenia Syndromes|Asplenia with Cardiovascular Anomalies|Atrial Isomerism, Left|Atrial Isomerism, Right|Atrial Isomerisms, Left|Atrial Isomerisms, Right|Heterotaxies, Visceral|Heterotaxy Syndromes|Heterotaxy, Visceral|HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE, INCLUDED|Isomerism, Left Atrial|Isomerism, Right Atrial|Isomerisms, Left Atrial|Isomerisms, Right Atrial|Ivemark Syndrome|IVEMARK SYNDROME POLYSPLENIA SYNDROME, INCLUDED|Left Atrial Isomerism|Left Atrial Isomerisms|Left Atrial Isomerism with Polysplenia|POLYASPLENIA, INCLUDED|Polysplenia Syndrome|Polysplenia Syndromes|RAI|Right Atrial Isomerism|Right Atrial Isomerisms|Right Atrial Isomerism with Asplenia|RIGHT ISOMERISM|Situs Ambiguus|Situs Ambiguus Viscerum|Situs Ambiguus Viscerums|Situs Ambiguus with Asplenia|Situs Ambiguus with Polysplenia|Syndrome, Asplenia|Syndrome, Heterotaxy|Syndrome, Ivemark|Syndrome, Polysplenia|Syndromes, Asplenia|Syndromes, Heterotaxy|Syndromes, Polysplenia|VAH, AUTOSOMAL RECESSIVE, INCLUDED|Visceral Heterotaxies|Visceral Heterotaxy|Viscerum, Situs Ambiguus|Viscerums, Situs Ambiguus Cardiovascular disease|Congenital abnormality|Lymphatic disease HETEROTAXY, VISCERAL, 2, AUTOSOMAL OMIM:605376 DO:DOID:0050545 MESH:D000015 C16.131.077/605376 C16.131.077 HTX|HTX2 Congenital abnormality Heterotaxy, Visceral, 3, Autosomal MESH:C565237 OMIM:606325 MESH:D059446 C14.240.400.592/C565237|C14.280.400.592/C565237|C15.604.744.146/C565237|C16.131.077.401/C565237|C16.131.240.400.592/C565237 C14.240.400.592|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.592 HTX3 Cardiovascular disease|Congenital abnormality|Lymphatic disease HETEROTAXY, VISCERAL, 4, AUTOSOMAL OMIM:613751 DO:DOID:0050545 MESH:D059446 C14.240.400.592/613751|C14.280.400.592/613751|C15.604.744.146/613751|C16.131.077.401/613751|C16.131.240.400.592/613751 C14.240.400.592|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.592 HTX4 Cardiovascular disease|Congenital abnormality|Lymphatic disease HETEROTAXY, VISCERAL, 5, AUTOSOMAL OMIM:270100 DO:DOID:758 MESH:D012857 C16.131.810/270100 C16.131.810 HTX5|SITUS INVERSUS VISCERUM, FORMERLY|SIV, FORMERLY Congenital abnormality HETEROTAXY, VISCERAL, 6, AUTOSOMAL OMIM:614779 DO:DOID:0050545 MESH:D059446 C14.240.400.592/614779|C14.280.400.592/614779|C15.604.744.146/614779|C16.131.077.401/614779|C16.131.240.400.592/614779 C14.240.400.592|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.592 HTX6 Cardiovascular disease|Congenital abnormality|Lymphatic disease HETEROTAXY, VISCERAL, 7, AUTOSOMAL OMIM:616749 MESH:D059446 C14.240.400.592/616749|C14.280.400.592/616749|C15.604.744.146/616749|C16.131.077.401/616749|C16.131.240.400.592/616749 C14.240.400.592|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.592 HTX7 Cardiovascular disease|Congenital abnormality|Lymphatic disease HETEROTAXY, VISCERAL, 8, AUTOSOMAL OMIM:617205 MESH:D059446 C14.240.400.592/617205|C14.280.400.592/617205|C15.604.744.146/617205|C16.131.077.401/617205|C16.131.240.400.592/617205 C14.240.400.592|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.592 HTX8 Cardiovascular disease|Congenital abnormality|Lymphatic disease Heterotaxy, visceral, X-linked MESH:C538116 OMIM:306955 MESH:D003914|MESH:D040181|MESH:D059446 C14.240.400.280/C538116|C14.240.400.592/C538116|C14.280.400.280/C538116|C14.280.400.592/C538116|C15.604.744.146/C538116|C16.131.077.401/C538116|C16.131.240.400.280/C538116|C16.131.240.400.592/C538116|C16.131.810.250/C538116|C16.320.322/C538116 C14.240.400.280|C14.240.400.592|C14.280.400.280|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.280|C16.131.240.400.592|C16.131.810.250|C16.320.322 CHTD1, INCLUDED|Dextrocardia with other cardiac malformations|Heterotaxy, Visceral, 1, X-Linked|Heterotaxy, Visceral, 5, Autosomal|HTX1|Laterality, X-linked|Situs inversus, complex cardiac defects, and splenic defects, X-linked|SITUS INVERSUS, COMPLEX CARDIAC DEFECTS, AND SPLENIC DEFECTS, X-LINKED CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED, INCLUDED|Visceral heterotaxia Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Lymphatic disease Heterotaxy, Visceroatrial, Autosomal Recessive MESH:C566864 MESH:D059446 C14.240.400.592/C566864|C14.280.400.592/C566864|C15.604.744.146/C566864|C16.131.077.401/C566864|C16.131.240.400.592/C566864 C14.240.400.592|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.592 Cardiovascular disease|Congenital abnormality|Lymphatic disease Heterotopia, Periventricular, associated with Chromosome 5p Anomalies MESH:C564291 OMIM:608098 MESH:D054091 C10.500.507.450.750/C564291|C16.131.666.507.450.750/C564291 C10.500.507.450.750|C16.131.666.507.450.750 HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5p ANOMALIES|Periventricular Nodular Heterotopia 3|PVNH3 Congenital abnormality|Nervous system disease Heterotopia, Periventricular, Associated With Chromosome 5q Deletion MESH:C567876 OMIM:612881 MESH:D054091 C10.500.507.450.750/C567876|C16.131.666.507.450.750/C567876 C10.500.507.450.750|C16.131.666.507.450.750 CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL|HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5q DELETION|Periventricular Nodular Heterotopia 5|PVNH5 Congenital abnormality|Nervous system disease Heterotopia, Periventricular, Autosomal Recessive MESH:C564292 OMIM:608097 MESH:D054091 C10.500.507.450.750/C564292|C16.131.666.507.450.750/C564292 C10.500.507.450.750|C16.131.666.507.450.750 ARPHM|HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE|Periventricular Heterotopia with Microcephaly, Autosomal Recessive|Periventricular Nodular Heterotopia 2|PVNH2 Congenital abnormality|Nervous system disease Heterotopia, Periventricular, Ehlers-Danlos Variant MESH:C564492 MESH:D040181|MESH:D054091 C10.500.507.450.750/C564492|C16.131.666.507.450.750/C564492|C16.320.322/C564492 C10.500.507.450.750|C16.131.666.507.450.750|C16.320.322 Periventricular Nodular Heterotopia 4 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia MESH:C564725 MESH:D010009|MESH:D040181|MESH:D054091 C05.116.099.708/C564725|C10.500.507.450.750/C564725|C16.131.666.507.450.750/C564725|C16.320.322/C564725|C16.320.728/C564725 C05.116.099.708|C10.500.507.450.750|C16.131.666.507.450.750|C16.320.322|C16.320.728 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Hexokinase Deficiency Hemolytic Anemia MESH:C562995 MESH:D000743 C15.378.071.141/C562995 C15.378.071.141 Blood disease Hexosaminidase A Deficiency, Adult Type MESH:C564783 MESH:D013661 C10.228.140.163.100.435.825.300.300.500/C564783|C16.320.565.189.435.825.300.300.500/C564783|C16.320.565.398.641.803.350.300.850/C564783|C16.320.565.595.554.825.300.300.840/C564783|C18.452.132.100.435.825.300.300.500/C564783|C18.452.584.563.641.803.350.300.850/C564783|C18.452.648.189.435.825.300.300.500/C564783|C18.452.648.398.641.803.350.300.850/C564783|C18.452.648.595.554.825.300.300.840/C564783 C10.228.140.163.100.435.825.300.300.500|C16.320.565.189.435.825.300.300.500|C16.320.565.398.641.803.350.300.850|C16.320.565.595.554.825.300.300.840|C18.452.132.100.435.825.300.300.500|C18.452.584.563.641.803.350.300.850|C18.452.648.189.435.825.300.300.500|C18.452.648.398.641.803.350.300.850|C18.452.648.595.554.825.300.300.840 Genetic disease (inborn)|Metabolic disease|Nervous system disease Hhhh Syndrome MESH:C564411 MESH:D001264|MESH:D010291 C10.597.350.110/C564411|C10.597.636/C564411|C23.888.592.350.110/C564411|C23.888.592.643/C564411 C10.597.350.110|C10.597.636|C23.888.592.350.110|C23.888.592.643 Hereditary Hemihypotrophy Hemiparesis Hemiathetosis Syndrome Nervous system disease|Signs and symptoms HHH syndrome MESH:C538380 OMIM:238970 MESH:D022124|MESH:D056806 C10.228.140.163.100.937/C538380|C16.320.565.100.940/C538380|C16.320.565.189.937/C538380|C18.452.132.100.937/C538380|C18.452.648.100.940/C538380|C18.452.648.189.937/C538380|C23.550.421/C538380 C10.228.140.163.100.937|C16.320.565.100.940|C16.320.565.189.937|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937|C23.550.421 HHH|HHHS|HHH SYNDROME|Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome|Hyperornithinemia-hyperammonemia-homocitrullinuria|Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|Ornithine translocase deficiency|Triple H Syndrome Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (process) Hiccup MESH:D006606 A spasm of the diaphragm that causes a sudden inhalation followed by rapid closure of the glottis which produces a sound. MESH:D012817 C23.888.821.578 C23.888.821 Hiccough|Hiccoughs|Hiccups Signs and symptoms Hidradenitis MESH:D016575 DO:DOID:2282 The inflammation of a sweat gland (usually of the apocrine type). The condition can be idiopathic or occur as a result of or in association with another underlying condition. Neutrophilic eccrine hidradenitis is a relatively rare variant that has been reported in patients undergoing chemotherapy, usually for non-Hodgkin lymphomas or leukemic conditions. MESH:D013543 C17.800.946.315 C17.800.946 Eccrine Hidradenitides, Neutrophilic|Eccrine Hidradenitis, Neutrophilic|Hidradenitides|Hidradenitides, Neutrophilic Eccrine|Hidradenitis, Neutrophilic Eccrine|Hidrosadenitides|Hidrosadenitis|Hydradenitides|Hydradenitis|Neutrophilic Eccrine Hidradenitides|Neutrophilic Eccrine Hidradenitis Skin disease Hidradenitis Suppurativa MESH:D017497 DO:DOID:2280 A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident. MESH:D013492|MESH:D016575|MESH:D017192 C01.150.252.819.420|C01.800.720.420|C01.830.499|C17.800.838.765.420|C17.800.946.315.320 C01.150.252.819|C01.800.720|C01.830|C17.800.838.765|C17.800.946.315 Acne Inversa|Acne Inversas|Hidradenitides, Suppurative|Hidradenitis, Suppurative|Inversa, Acne|Inversas, Acne|Suppurative Hidradenitides|Suppurative Hidradenitis Bacterial infection or mycosis|Skin disease Hidradenitis suppurativa, familial MESH:C538118 OMIM:142690|OMIM:613736|OMIM:613737 MESH:D017497 C01.150.252.819.420/C538118|C01.800.720.420/C538118|C01.830.499/C538118|C17.800.838.765.420/C538118|C17.800.946.315.320/C538118 C01.150.252.819.420|C01.800.720.420|C01.830.499|C17.800.838.765.420|C17.800.946.315.320 Acne inversa, familial|ACNE INVERSA, FAMILIAL, 1|ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE|ACNE INVERSA, FAMILIAL, 3|ACNINV1|ACNINV2|ACNINV3|HIDRADENITIS SUPPURATIVA, FAMILIAL Bacterial infection or mycosis|Skin disease Hidrocystoma MESH:D018251 DO:DOID:3893 A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410) MESH:D006607 C04.557.470.035.175.375|C04.557.470.550.175.375 C04.557.470.035.175|C04.557.470.550.175 Hidrocystomas Cancer HID Syndrome MESH:C566528 OMIM:602540 MESH:D006319|MESH:D007057 C09.218.458.341.887/C566528|C10.597.751.418.341.887/C566528|C16.131.831.512/C566528|C16.614.492/C566528|C17.800.428.333/C566528|C17.800.804.512/C566528|C23.888.592.763.393.341.887/C566528 C09.218.458.341.887|C10.597.751.418.341.887|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512|C23.888.592.763.393.341.887 HID SYNDROME|Hystrix-Like Ichthyosis with Deafness|Ichthyosis, Hystrix-Like, with Deafness Congenital abnormality|Ear-nose-throat disease|Infant-newborn disease|Nervous system disease|Signs and symptoms|Skin disease HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 OMIM:606613 MESH:D050171 C18.452.584.500/606613 C18.452.584.500 HDLC1|HDLCQ1 Metabolic disease HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12 OMIM:612797 MESH:D050171 C18.452.584.500/612797 C18.452.584.500 HDLCQ12 Metabolic disease HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 14 OMIM:605201 MESH:D052456 C16.320.565.398.500.330/605201|C18.452.584.500.875.330/605201|C18.452.584.563.500.330/605201|C18.452.648.398.500.330/605201 C16.320.565.398.500.330|C18.452.584.500.875.330|C18.452.584.563.500.330|C18.452.648.398.500.330 HDLCQ14 Genetic disease (inborn)|Metabolic disease HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2 OMIM:607053 MESH:D050171 C18.452.584.500/607053 C18.452.584.500 HDLCQ2 Metabolic disease HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 OMIM:607687 MESH:D050171 C18.452.584.500/607687 C18.452.584.500 HDLCQ3 Metabolic disease HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4 OMIM:610239 MESH:D050171 C18.452.584.500/610239 C18.452.584.500 HDLCQ4 Metabolic disease HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5 OMIM:610761 MESH:D050171 C18.452.584.500/610761 C18.452.584.500 HDLCQ5 Metabolic disease HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 OMIM:610762 MESH:D050171 C18.452.584.500/610762 C18.452.584.500 HDLCQ6 Metabolic disease High Pressure Neurological Syndrome MESH:D006610 DO:DOID:3230 A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and SEIZURES. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium. MESH:D002493|MESH:D009784 C10.228.566|C24.410 C10.228|C24 Experimental High Pressure Neurological Syndrome|High Pressure Nervous Syndrome|High Pressure Neural Syndrome|High Pressure Neurological Syndrome, Experimental|HPNS|HPNSs Nervous system disease|Occupational disease High serum cholesterol, familial MESH:C538646 MESH:D006938 C16.320.565.398.481/C538646|C18.452.584.500.500.644.475/C538646|C18.452.584.563.481/C538646|C18.452.648.398.481/C538646 C16.320.565.398.481|C18.452.584.500.500.644.475|C18.452.584.563.481|C18.452.648.398.481 Hyperlipidema, Familial|Hyperlipoproteinemia, type 2 A Genetic disease (inborn)|Metabolic disease hikikomori MESH:C000711527 MESH:D000072861 F03.080.725.500/C000711527 F03.080.725.500 hikikomori syndrome Mental disorder Hip Contracture MESH:D006616 Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint. Locomotion is difficult and pain is sometimes present when the hip is in motion. It may be caused by trauma, infection, or poliomyelitis. (From Current Medical Information & Technology, 5th ed) MESH:D003286 C05.550.323.468|C05.651.197.468 C05.550.323|C05.651.197 Contracture, Hip|Contractures, Hip|Hip Contractures Musculoskeletal disease Hip Dislocation MESH:D006617 Displacement of the femur bone from its normal position at the HIP JOINT. MESH:D004204|MESH:D025981 C05.550.518.384|C26.289.384|C26.531.500 C05.550.518|C26.289|C26.531 Dislocation, Hip|Dislocations, Hip|Displacement, Hip|Displacements, Hip|Dysplasia, Hip|Dysplasias, Hip|Hip Dislocations|Hip Displacement|Hip Displacements|Hip Dysplasia|Hip Dysplasias Musculoskeletal disease|Wounds and injuries Hip Dislocation, Congenital MESH:D006618 Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males. MESH:D000082602|MESH:D009139 C05.660.297.500|C16.131.621.297.500|C16.131.621.449 C05.660.297|C16.131.621|C16.131.621.297 Congenital Dysplasia Of The Hip|Congenital Hip Dislocation|Congenital Hip Dislocations|Congenital Hip Displacement|Congenital Hip Displacements|Congenital Hip Dysplasia|Congenital Hip Dysplasias|Dislocation, Congenital Hip|Dislocation Of Hip, Congenital|Dislocations, Congenital Hip|Displacement, Congenital Hip|Displacements, Congenital Hip|Dysplasia, Congenital Hip|Dysplasias, Congenital Hip|Hip, Dislocation Of, Congenital|Hip Dislocations, Congenital|Hip Displacement, Congenital|Hip Displacements, Congenital|Hip Dysplasia, Congenital|Hip Dysplasia, Congenital, Nonsyndromic|Hip Dysplasias, Congenital Congenital abnormality|Musculoskeletal disease Hip Dysplasia, Beukes Type MESH:C564185 DO:DOID:0111367|OMIM:142669 MESH:D006618|MESH:D007592|MESH:D010009 C05.116.099.708/C564185|C05.550/C564185|C05.660.297.500/C564185|C16.131.621.297.500/C564185|C16.131.621.449/C564185|C16.320.728/C564185 C05.116.099.708|C05.550|C05.660.297.500|C16.131.621.297.500|C16.131.621.449|C16.320.728 Beukes Familial Hip Dysplasia|BEUKES HIP DYSPLASIA|BFHD|BHD|HDB|HIP DYSPLASIA, BEUKES TYPE|Osteoarthropathy, Premature Degenerative, of Hip Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Hip Dysplasia, Canine MESH:D006619 A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age. MESH:D004283 C22.268.485 C22.268 Canine Hip Dysplasia|Dysplasia, Canine Hip Animal disease Hip Fractures MESH:D006620 Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES). MESH:D005264|MESH:D025981 C26.404.061.425|C26.531.750|C26.558.276.425 C26.404.061|C26.531|C26.558.276 Femoral Trochlear Fracture|Femoral Trochlear Fractures|Femur Trochlear Fracture|Femur Trochlear Fractures|Fracture, Femoral Trochlear|Fracture, Femur Trochlear|Fractures, Femoral Trochlear|Fractures, Femur Trochlear|Fractures, Hip|Fractures, Intertrochanteric|Fractures, Subtrochanteric|Fractures, Trochanteric|Intertrochanteric Fractures|Subtrochanteric Fractures|Trochanteric Fractures|Trochlear Fracture, Femoral|Trochlear Fracture, Femur|Trochlear Fractures, Femoral|Trochlear Fractures, Femur Wounds and injuries Hip Injuries MESH:D025981 General or unspecified injuries involving the hip. MESH:D014947 C26.531 C26 Injuries, Hip Wounds and injuries Hippocampal Sclerosis MESH:D000092223 Neuronal loss in the hippocampal regions of CA1 and CA4 and less severely CA2 and CA3. Additional loss of hippocampal stratum radiatum, hippocampal atrophy and ASTROGLIOSIS are common. Hippocampal sclerosis is associated with intractable TEMPORAL LOBE EPILEPSY. MESH:D065703 C10.500.507.400.187|C16.131.666.507.400.187 C10.500.507.400|C16.131.666.507.400 Aging Hippocampal Scleroses|Aging Hippocampal Sclerosis|Ammon Horn Scleroses|Ammon Horn Sclerosis|CA1 Hippocampal Scleroses|CA1 Hippocampal Sclerosis|CA4 Hippocampal Scleroses|CA4 Hippocampal Sclerosis|Endfolium Scleroses|Endfolium Sclerosis|Hippocampal Scleroses|Hippocampal Sclerosis, CA1|Hippocampal Sclerosis, CA4|Hippocampal Sclerosis of Aging|Horn Sclerosis, Ammon|Mesial Temporal Scleroses|Mesial Temporal Sclerosis|Sclerosis, Ammon Horn|Sclerosis, CA1 Hippocampal|Sclerosis, CA4 Hippocampal|Sclerosis, Endfolium|Sclerosis, Hippocampal|Sclerosis, Mesial Temporal|Temporal Sclerosis, Mesial Congenital abnormality|Nervous system disease Hip socket neuropathy MESH:C531783 MESH:D012585|MESH:D055958 C10.668.829.500.675.399/C531783|C10.668.829.500.675.800/C531783|C10.668.829.550.500/C531783|C10.668.829.600.675/C531783|C10.668.829.600.800/C531783|C23.888.592.612.664.675/C531783|C23.888.592.612.664.800/C531783|C23.888.592.612.944.750/C531783 C10.668.829.500.675.399|C10.668.829.500.675.800|C10.668.829.550.500|C10.668.829.600.675|C10.668.829.600.800|C23.888.592.612.664.675|C23.888.592.612.664.800|C23.888.592.612.944.750 Deep gluteal syndrome|Pseudosciatica|Wallet sciatica Nervous system disease|Signs and symptoms Hirschsprung Disease MESH:D006627 DO:DOID:10487|OMIM:142623|OMIM:600155|OMIM:600156|OMIM:606874|OMIM:606875|OMIM:608462|OMIM:611644|OMIM:613711|OMIM:613712 Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON. MESH:D004065|MESH:D008531 C06.198.439|C06.405.469.158.701.439|C16.131.314.439 C06.198|C06.405.469.158.701|C16.131.314 Aganglionic Megacolon|Aganglionosis, Colonic|Aganglionosis, Rectosigmoid|Aganglionosis, Rectosigmoid Colon|Aganglionosis, Total Colonic|Colonic Aganglionosis|Congenital Intestinal Aganglionosis|Congenital Megacolon|Disease, Hirschsprung|Disease, Hirschsprung's|HIRSCHSPRUNG DISEASE|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 8|HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9|Hirschsprung's Disease|Hirschsprungs Disease|HSCR|HSCR1|HSCR2|HSCR3|HSCR4|HSCR5|HSCR6|HSCR7|HSCR8|HSCR9|Megacolon, Aganglionic|MEGACOLON, AGANGLIONIC;MGC HIRSCHSPRUNG DISEASE, PROTECTION AGAINST, INCLUDED|Megacolon, Congenital|Rectosigmoid Aganglionosis|Rectosigmoid Colon Aganglionosis|Total Colonic Aganglionosis Congenital abnormality|Digestive system disease Hirschsprung disease 1 MESH:C538540 MESH:D006627 C06.198.439/C538540|C06.405.469.158.701.439/C538540|C16.131.314.439/C538540 C06.198.439|C06.405.469.158.701.439|C16.131.314.439 Hirschsprung disease type 1 Congenital abnormality|Digestive system disease Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction MESH:C563939 OMIM:613870 MESH:D001342|MESH:D006330|MESH:D006627 C06.198.439/C563939|C06.405.469.158.701.439/C563939|C10.177/C563939|C14.240.400/C563939|C14.280.400/C563939|C16.131.240.400/C563939|C16.131.314.439/C563939 C06.198.439|C06.405.469.158.701.439|C10.177|C14.240.400|C14.280.400|C16.131.240.400|C16.131.314.439 HCAD Cardiovascular disease|Congenital abnormality|Digestive system disease|Nervous system disease Hirschsprung disease ganglioneuroblastoma MESH:C538119 MESH:D006627|MESH:D018305 C04.557.465.625.600.590.650.550.300/C538119|C04.557.470.670.590.650.550.300/C538119|C04.557.580.625.600.590.650.550.300/C538119|C06.198.439/C538119|C06.405.469.158.701.439/C538119|C16.131.314.439/C538119 C04.557.465.625.600.590.650.550.300|C04.557.470.670.590.650.550.300|C04.557.580.625.600.590.650.550.300|C06.198.439|C06.405.469.158.701.439|C16.131.314.439 Neuroblastoma with Hirschsprung disease Cancer|Congenital abnormality|Digestive system disease Hirschsprung disease polydactyly heart disease MESH:C538120 MESH:D006627|MESH:D017689 C05.660.585.600/C538120|C06.198.439/C538120|C06.405.469.158.701.439/C538120|C16.131.314.439/C538120|C16.131.621.585.600/C538120 C05.660.585.600|C06.198.439|C06.405.469.158.701.439|C16.131.314.439|C16.131.621.585.600 Congenital abnormality|Digestive system disease|Musculoskeletal disease Hirschsprung disease type 3 MESH:C538121 MESH:D006627 C06.198.439/C538121|C06.405.469.158.701.439/C538121|C16.131.314.439/C538121 C06.198.439|C06.405.469.158.701.439|C16.131.314.439 Congenital abnormality|Digestive system disease Hirschsprung disease type d brachydactyly MESH:C538319 MESH:D006627|MESH:D059327 C05.660.585.262/C538319|C06.198.439/C538319|C06.405.469.158.701.439/C538319|C16.131.314.439/C538319|C16.131.621.585.262/C538319 C05.660.585.262|C06.198.439|C06.405.469.158.701.439|C16.131.314.439|C16.131.621.585.262 Familial Hirschsprung's disease and type D brachydactyly|Hirschsprung Disease with Type D Brachydactyly Congenital abnormality|Digestive system disease|Musculoskeletal disease Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly MESH:C565817 MESH:D000015|MESH:D006330|MESH:D006627|MESH:D017689 C05.660.585.600/C565817|C06.198.439/C565817|C06.405.469.158.701.439/C565817|C14.240.400/C565817|C14.280.400/C565817|C16.131.077/C565817|C16.131.240.400/C565817|C16.131.314.439/C565817|C16.131.621.585.600/C565817 C05.660.585.600|C06.198.439|C06.405.469.158.701.439|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.314.439|C16.131.621.585.600 Cardiovascular disease|Congenital abnormality|Digestive system disease|Musculoskeletal disease Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness MESH:C565518 MESH:D003638|MESH:D006627|MESH:D006972|MESH:D017689 C05.116.099.370.231.480/C565518|C05.660.207.231.480/C565518|C05.660.585.600/C565518|C06.198.439/C565518|C06.405.469.158.701.439/C565518|C09.218.458.341.186/C565518|C10.597.751.418.341.186/C565518|C16.131.314.439/C565518|C16.131.621.207.231.480/C565518|C16.131.621.585.600/C565518|C23.888.592.763.393.341.186/C565518 C05.116.099.370.231.480|C05.660.207.231.480|C05.660.585.600|C06.198.439|C06.405.469.158.701.439|C09.218.458.341.186|C10.597.751.418.341.186|C16.131.314.439|C16.131.621.207.231.480|C16.131.621.585.600|C23.888.592.763.393.341.186 Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect MESH:C565517 MESH:D006345|MESH:D006627|MESH:D017689 C05.660.585.600/C565517|C06.198.439/C565517|C06.405.469.158.701.439/C565517|C14.240.400.560.540/C565517|C14.280.400.560.540/C565517|C16.131.240.400.560.540/C565517|C16.131.314.439/C565517|C16.131.621.585.600/C565517 C05.660.585.600|C06.198.439|C06.405.469.158.701.439|C14.240.400.560.540|C14.280.400.560.540|C16.131.240.400.560.540|C16.131.314.439|C16.131.621.585.600 Cardiovascular disease|Congenital abnormality|Digestive system disease|Musculoskeletal disease Hirsutism MESH:D006628 A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth. MESH:D006201|MESH:D014770 C17.800.329.750|C23.888.971.468 C17.800.329|C23.888.971 Signs and symptoms|Skin disease Histidinemia MESH:C538320 DO:DOID:0060168|OMIM:235800 MESH:D000592 C16.320.565.100/C538320|C18.452.648.100/C538320 C16.320.565.100|C18.452.648.100 Deficiency in Histidase|HAL Deficiency|HIS DEFICIENCY|Histidase deficiency|Histidine ammonia-lyase deficiency|Hyperhistidinemia Genetic disease (inborn)|Metabolic disease Histidinuria renal tubular defect MESH:C538321 MESH:D000608 C12.050.351.968.419.815.885/C538321|C12.200.777.419.815.885/C538321|C12.950.419.815.885/C538321|C16.320.831.885/C538321 C12.050.351.968.419.815.885|C12.200.777.419.815.885|C12.950.419.815.885|C16.320.831.885 Histidinuria due to a Renal Tubular Defect|Renal histidinuria Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Histiocytic Dermatoarthritis MESH:C564183 MESH:D001168|MESH:D012873|MESH:D015785 C05.550.114/C564183|C11.270/C564183|C16.320.290/C564183|C16.320.850/C564183|C17.800.827/C564183 C05.550.114|C11.270|C16.320.290|C16.320.850|C17.800.827 Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Histiocytic Disorders, Malignant MESH:D015620 DO:DOID:2570 Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of MACROPHAGES and DENDRITIC CELLS. MESH:D009370|MESH:D015614 C04.557.227|C15.604.250.390 C04.557|C15.604.250 Disorder, Malignant Histiocytic|Disorders, Malignant Histiocytic|Histiocytic Disorder, Malignant|Malignant Histiocytic Disorder|Malignant Histiocytic Disorders Cancer|Lymphatic disease Histiocytic Necrotizing Lymphadenitis MESH:D020042 Development of lesions in the lymph node characterized by infiltration of the cortex or paracortex by large collections of proliferating histiocytes and complete or, more often, incomplete necrosis of lymphoid tissue. MESH:D008199 C15.604.315.300 C15.604.315 Disease, Kikuchi|Disease, Kikuchi-Fujimoto|Disease, Kikuchi-Fujimoto's|Disease, Kikuchi's|Histiocytic Necrotising Lymphadenitides|Histiocytic Necrotising Lymphadenitis|Kikuchi Disease|Kikuchi Fujimoto Disease|Kikuchi-Fujimoto Disease|Kikuchi Fujimoto's Disease|Kikuchi-Fujimoto's Disease|Kikuchi-Fujimotos Disease|Kikuchi Necrotizing Lymphadenitis|Kikuchi's Disease|Kikuchis Disease|Kikuchi's Disease, Nosocomial|Lymphadenitides, Histiocytic Necrotising|Lymphadenitis, Histiocytic Necrotising|Lymphadenitis, Histiocytic Necrotizing|Lymphadenitis, Kikuchi Necrotizing|Necrotising Lymphadenitides, Histiocytic|Necrotising Lymphadenitis, Histiocytic|Necrotizing Lymphadenitis, Histiocytic|Necrotizing Lymphadenitis, Kikuchi|Nosocomial Kikuchi Disease|Nosocomial Kikuchi's Disease|Nosocomial Kikuchis Disease Lymphatic disease Histiocytic Sarcoma MESH:D054747 DO:DOID:0080915 Malignant neoplasms composed of MACROPHAGES or DENDRITIC CELLS. Most histiocytic sarcomas present as localized tumor masses without a leukemic phase. Though the biological behavior of these neoplasms resemble lymphomas, their cell lineage is histiocytic not lymphoid. MESH:D015620 C04.557.227.380|C15.604.250.390.380 C04.557.227|C15.604.250.390 Histiocytic Lymphomas, True|Histiocytic Lymphoma, True|Histiocytic Sarcomas|Histiocytoses, Malignant|Histiocytoses, True Malignant|Histiocytosis, Malignant|Histiocytosis, True Malignant|Lymphomas, True Histiocytic|Lymphoma, True Histiocytic|Malignant Histiocytoses|Malignant Histiocytoses, True|Malignant Histiocytosis|Malignant Histiocytosis, True|Sarcoma, Histiocytic|Sarcomas, Histiocytic|True Histiocytic Lymphoma|True Histiocytic Lymphomas|True Malignant Histiocytoses|True Malignant Histiocytosis Cancer|Lymphatic disease Histiocytoma MESH:D051642 DO:DOID:4231 A neoplasm containing HISTIOCYTES. Important forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA. MESH:D018218 C04.557.450.565.590.425 C04.557.450.565.590 Histiocytomas Cancer Histiocytoma, Angiomatoid Fibrous MESH:C563181 OMIM:612160 MESH:D051677 C04.557.450.565.590.425.360/C563181|C04.557.450.795.400/C563181 C04.557.450.565.590.425.360|C04.557.450.795.400 Cancer Histiocytoma, Benign Fibrous MESH:D018219 DO:DOID:4415|DO:DOID:4418 A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747) MESH:D051642 C04.557.450.565.590.425.350 C04.557.450.565.590.425 Angioma, Sclerosing|Angiomas, Sclerosing|Benign Fibrous Histiocytoma|Benign Fibrous Histiocytomas|Cutaneous Histiocytoma|Cutaneous Histiocytomas|Dermatofibroma|Dermatofibromas|Fibrous Histiocytoma|Fibrous Histiocytoma, Benign|Fibrous Histiocytomas|Fibrous Histiocytomas, Benign|Hemangioma, Sclerosing|Hemangiomas, Sclerosing|Histiocytoma, Cutaneous|Histiocytoma, Fibrous|Histiocytomas, Benign Fibrous|Histiocytomas, Cutaneous|Histiocytomas, Fibrous|Sclerosing Angioma|Sclerosing Angiomas|Sclerosing Hemangioma|Sclerosing Hemangiomas Cancer Histiocytoma, Malignant Fibrous MESH:D051677 DO:DOID:1907 The most commonly diagnosed soft tissue sarcoma. It is a neoplasm with a fibrohistiocytic appearance found chiefly in later adult life, with peak incidence in the 7th decade. MESH:D012509|MESH:D051642 C04.557.450.565.590.425.360|C04.557.450.795.400 C04.557.450.565.590.425|C04.557.450.795 Fibrohistiocytic Tumor, Malignant|Fibrohistiocytic Tumors, Malignant|Fibrous Histiocytoma, Malignant|Fibrous Histiocytomas, Malignant|Histiocytomas, Malignant Fibrous|Malignant Fibrohistiocytic Tumor|Malignant Fibrohistiocytic Tumors|Malignant Fibrous Histiocytoma|Malignant Fibrous Histiocytomas|Pleomorphic Malignant Fibrous Histiocytoma|Tumor, Malignant Fibrohistiocytic|Tumors, Malignant Fibrohistiocytic Cancer Histiocytosis MESH:D015614 DO:DOID:3405 General term for the abnormal appearance of histiocytes in the blood. Based on the pathological features of the cells involved rather than on clinical findings, the histiocytic diseases are subdivided into three groups: HISTIOCYTOSIS, LANGERHANS CELL; HISTIOCYTOSIS, NON-LANGERHANS-CELL; and HISTIOCYTIC DISORDERS, MALIGNANT. MESH:D008206 C15.604.250 C15.604 Histiocytoses Lymphatic disease Histiocytosis, Familial Lipochrome MESH:C562738 MESH:D015614|MESH:D030342 C15.604.250/C562738|C16.320/C562738 C15.604.250|C16.320 Genetic disease (inborn)|Lymphatic disease Histiocytosis, Langerhans-Cell MESH:D006646 DO:DOID:2571 A group of disorders resulting from the abnormal proliferation of and tissue infiltration by LANGERHANS CELLS which can be detected by their characteristic Birbeck granules (X bodies), or by monoclonal antibody staining for their surface CD1 ANTIGENS. Langerhans-cell granulomatosis can involve a single organ, or can be a systemic disorder. MESH:D015614|MESH:D017563 C08.381.483.375|C15.604.250.400 C08.381.483|C15.604.250 Aleukemic Reticuloendothelioses, Systemic|Aleukemic Reticuloendotheliosis, Systemic|Cell Granulomatoses, Langerhans|Cell Granulomatosis, Langerhans|Cell Histiocytoses, Langerhans|Cell Histiocytosis, Langerhans|Disease, Hand-Schueller-Christian|Disease, Hand-Schüller-Christian|Disease, Letterer-Siwe|Disease, Schueller-Christian|Generalized Histiocytoses|Generalized Histiocytosis|Granulomatoses, Langerhans Cell|Granulomatosis, Langerhans Cell|Granulomatosis, Langerhans-Cell|Hand Schueller Christian Disease|Hand-Schueller-Christian Disease|Hand Schueller Christian Syndrome|Hand-Schueller-Christian Syndrome|Hand Schüller Christian Disease|Hand-Schüller-Christian Disease|Hand Schüller Christian Syndrome|Hand-Schüller-Christian Syndrome|Hashimoto-Pritzger Disease|Histiocytoses, Generalized|Histiocytoses, Langerhans Cell|Histiocytoses, Type 2|Histiocytosis, Generalized|Histiocytosis, Langerhans Cell|Histiocytosis, Type 2|Histiocytosis X|Histiocytosis-X|Histiocytosis X, Pulmonary|Langerhans Cell Granulomatoses|Langerhans Cell Granulomatosis|Langerhans-Cell Granulomatosis|Langerhans Cell Granulomatosis, Pulmonary|Langerhans Cell Histiocytoses|Langerhans Cell Histiocytosis|Langerhans-Cell Histiocytosis|Letterer Siwe Disease|Letterer-Siwe Disease|Non-Lipid Reticuloendothelioses|Non Lipid Reticuloendotheliosis|Non-Lipid Reticuloendotheliosis|Pulmonary Histiocytosis X|Pulmonary Langerhans Cell Granulomatosis|Reticuloendothelioses, Non-Lipid|Reticuloendothelioses, Systemic Aleukemic|Reticuloendotheliosis, Non-Lipid|Reticuloendotheliosis, Systemic Aleukemic|Schueller Christian Disease|Schueller-Christian Disease|Syndrome, Hand-Schueller-Christian|Syndrome, Hand-Schüller-Christian|Systemic Aleukemic Reticuloendothelioses|Systemic Aleukemic Reticuloendotheliosis|Type 2 Histiocytoses|Type 2 Histiocytosis Lymphatic disease|Respiratory tract disease Histiocytosis, Non-Langerhans-Cell MESH:D015616 DO:DOID:4330|DO:DOID:4394 Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; JUVENILE XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES). MESH:D015614 C15.604.250.410 C15.604.250 Disseminatum, Xanthoma|Histiocytosis, Non Langerhans Cell|Non-Langerhans-Cell Histiocytosis|Reticulohistiocytoma|Reticulohistiocytomas|Xanthoma Disseminatum Lymphatic disease Histiocytosis, Progressive Mucinous MESH:C564186 MESH:D012878|MESH:D015614|MESH:D018297 C04.557.470.590/C564186|C04.588.805/C564186|C15.604.250/C564186|C17.800.882/C564186 C04.557.470.590|C04.588.805|C15.604.250|C17.800.882 Cancer|Lymphatic disease|Skin disease Histiocytosis, Sinus MESH:D015618 Benign, non-Langerhans-cell, histiocytic proliferative disorder that primarily affects the lymph nodes. It is often referred to as sinus histiocytosis with massive lymphadenopathy. MESH:D015616 C15.604.250.410.450 C15.604.250.410 Destombes Rosai Dorfman Syndrome|Destombes-Rosai-Dorfman Syndrome|Disease, Rosai-Dorfman|Histiocytoses, Sinus|Rosai Dorfman Disease|Rosai-Dorfman Disease|Sinus Histiocytoses|Sinus Histiocytosis|Sinus Histiocytosis with Massive Lymphadenopathy|Syndrome, Destombes-Rosai-Dorfman Lymphatic disease Histiocytosis with joint contractures and sensorineural deafness MESH:C538322 OMIM:602782 MESH:D003286|MESH:D006319|MESH:D015614 C05.550.323/C538322|C05.651.197/C538322|C09.218.458.341.887/C538322|C10.597.751.418.341.887/C538322|C15.604.250/C538322|C23.888.592.763.393.341.887/C538322 C05.550.323|C05.651.197|C09.218.458.341.887|C10.597.751.418.341.887|C15.604.250|C23.888.592.763.393.341.887 Faisalabad histiocytosis|HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS|HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME|HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS|HJCD|H SYNDROME|Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism With or Without Hearing Loss|PHID|PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS|Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus Syndrome|ROSAI-DORFMAN DISEASE, FAMILIAL|SHML|SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY Ear-nose-throat disease|Lymphatic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Histoplasmosis MESH:D006660 DO:DOID:1731|DO:DOID:1759 Infection resulting from exposure to the fungus HISTOPLASMA. MESH:D009181 C01.150.703.450 C01.150.703 African Histoplasmosis|Disseminated Histoplasmosis|Histoplasma capsulatum Infection|Histoplasma capsulatum Infections|Histoplasma duboisii Infection|Histoplasma duboisii Infections|Histoplasma Infection|Histoplasma Infections|Histoplasmosis, African|Histoplasmosis, Disseminated|Histoplasmosis, Pulmonary|Infection, Histoplasma|Infection, Histoplasma capsulatum|Infection, Histoplasma duboisii|Pulmonary Histoplasmosis Bacterial infection or mycosis Historical Trauma MESH:D000080037 Clinical distress among descendants of survivors of mass trauma, as if they had suffered through the same extreme historic circumstances. Symptoms may persist through generations. MESH:D000067073 F03.950.750.375.500 F03.950.750.375 Historical Psychological Trauma|Historical Traumas|Historic Trauma|Intergenerational Trauma|Psychological Trauma, Historical|Transgenerational Trauma|Transgenerational Traumas|Trauma, Historical|Trauma, Intergenerational|Traumas, Transgenerational|Trauma, Transgenerational Mental disorder Histrionic Personality Disorder MESH:D006677 DO:DOID:334 A personality disorder characterized by overly reactive and intensely expressed or overly dramatic behavior, proneness to exaggeration, emotional excitability, and disturbances in interpersonal relationships. MESH:D010554 F03.675.400 F03.675 Disorder, Histrionic Personality|Disorders, Histrionic Personality|Histrionic Personality Disorders|Hysterical Personalities|Hysterical Personality|Personalities, Hysterical|Personality Disorder, Histrionic|Personality Disorders, Histrionic|Personality, Hysterical Mental disorder Hittner Hirsch Kreh syndrome MESH:C538323 MESH:D000015|MESH:D003103|MESH:D006319|MESH:D006330|MESH:D008607|MESH:D008850 C09.218.458.341.887/C538323|C10.597.606.360/C538323|C10.597.751.418.341.887/C538323|C11.250.110/C538323|C11.250.566/C538323|C11.270.147/C538323|C14.240.400/C538323|C14.280.400/C538323|C16.131.077/C538323|C16.131.240.400/C538323|C16.131.384.282/C538323|C16.131.384.666/C538323|C23.888.592.604.646/C538323|C23.888.592.763.393.341.887/C538323|F03.625.539/C538323 C09.218.458.341.887|C10.597.606.360|C10.597.751.418.341.887|C11.250.110|C11.250.566|C11.270.147|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.384.282|C16.131.384.666|C23.888.592.604.646|C23.888.592.763.393.341.887|F03.625.539 Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms HIV-Associated Lipodystrophy Syndrome MESH:D039682 Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors. MESH:D008060|MESH:D015658 C01.221.250.875.550|C01.221.812.640.400.530|C01.778.640.400.530|C01.925.782.815.616.400.550|C01.925.813.400.530|C12.100.937.640.400.530|C17.800.849.391.400|C18.452.584.625.400|C18.452.880.391.400|C20.673.480.400 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C12.100.937.640.400|C17.800.849.391|C18.452.584.625|C18.452.880.391|C20.673.480 HIV Associated Lipodystrophy|HIV-Associated Lipodystrophy|HIV Associated Lipodystrophy Syndrome|HIV Lipodystrophy Syndrome|Lipodystrophy, HIV-Associated|Lipodystrophy Syndrome, HIV|Lipodystrophy Syndrome, HIV-Associated Immune system disease|Metabolic disease|Skin disease|Viral disease HIV Enteropathy MESH:D019053 A syndrome characterized by chronic, well-established DIARRHEA (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an HIV-positive individual. It is thought to be due to direct or indirect effects of HIV on the enteric mucosa. HIV enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155) MESH:D007410|MESH:D015658 C01.221.250.875.398|C01.221.812.640.400.480|C01.778.640.400.480|C01.925.782.815.616.400.398|C01.925.813.400.480|C06.405.469.400|C12.100.937.640.400.480|C20.673.480.480 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C06.405.469|C12.100.937.640.400|C20.673.480 AIDS-Associated Enteropathies|AIDS Associated Enteropathy|AIDS-Associated Enteropathy|AIDS Enteropathies|AIDS Enteropathies, Idiopathic|AIDS Enteropathy|AIDS Enteropathy, Idiopathic|Enteropathies, AIDS|Enteropathies, AIDS-Associated|Enteropathies, HIV|Enteropathies, HIV-Associated|Enteropathies, Idiopathic AIDS|Enteropathy, AIDS|Enteropathy, AIDS Associated|Enteropathy, AIDS-Associated|Enteropathy, HIV|Enteropathy, HIV Associated|Enteropathy, HIV-Associated|Enteropathy, Idiopathic AIDS|HIV-Associated Enteropathies|HIV Associated Enteropathy|HIV-Associated Enteropathy|HIV Enteropathies|Idiopathic AIDS Enteropathies|Idiopathic AIDS Enteropathy Digestive system disease|Immune system disease|Viral disease HIV Infections MESH:D015658 DO:DOID:526|OMIM:609423 Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS). MESH:D000086982|MESH:D007153|MESH:D015229|MESH:D016180 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C12.100.937.640.400|C20.673.480 C01.221.250|C01.221.812.640|C01.778.640|C01.925.782.815.616|C01.925.813|C12.100.937.640|C20.673 ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO, INCLUDED|AIDS, PROGRESSION TO, INCLUDED|Coinfection, HIV|Coinfections, HIV|HIV-1, RESISTANCE TO, INCLUDED|HIV-1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO, INCLUDED|HIV Coinfection|HIV Coinfections|HIV Infection|HTLV-III Infection|HTLV III Infections|HTLV-III Infections|HTLV-III-LAV Infection|HTLV III LAV Infections|HTLV-III-LAV Infections|HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO|Infection, HIV|Infection, HTLV-III|Infection, HTLV-III-LAV|Infections, HIV|Infections, HTLV-III|Infections, HTLV-III-LAV|T Lymphotropic Virus Type III Infections, Human|T-Lymphotropic Virus Type III Infections, Human Immune system disease|Viral disease HIV Seropositivity MESH:D006679 Development of neutralizing antibodies in individuals who have been exposed to the human immunodeficiency virus (HIV/HTLV-III/LAV). MESH:D015658 C01.221.250.875.500|C01.221.812.640.400.500|C01.778.640.400.500|C01.925.782.815.616.400.500|C01.925.813.400.500|C12.100.937.640.400.500|C20.673.480.500 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C12.100.937.640.400|C20.673.480 AIDS Seroconversion|AIDS Seroconversions|AIDS Seropositivities|AIDS Seropositivity|Antibody Positivities, HIV|Antibody Positivity, HIV|Anti-HIV Positivities|Anti HIV Positivity|Anti-HIV Positivity|HIV Antibody Positivities|HIV Antibody Positivity|HIV Seroconversion|HIV Seroconversions|HIV Seropositivities|HTLV III Seroconversion|HTLV-III Seroconversion|HTLV-III Seroconversions|HTLV-III Seropositivities|HTLV III Seropositivity|HTLV-III Seropositivity|Positivities, Anti-HIV|Positivities, HIV Antibody|Positivity, Anti-HIV|Positivity, HIV Antibody|Seroconversion, AIDS|Seroconversion, HIV|Seroconversion, HTLV-III|Seroconversions, AIDS|Seroconversions, HIV|Seroconversions, HTLV-III|Seropositivities, AIDS|Seropositivities, HIV|Seropositivities, HTLV-III|Seropositivity, AIDS|Seropositivity, HIV|Seropositivity, HTLV-III Immune system disease|Viral disease HIV Wasting Syndrome MESH:D019247 Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than HIV infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611). MESH:D015658|MESH:D019282 C01.221.250.875.520|C01.221.812.640.400.520|C01.778.640.400.520|C01.925.782.815.616.400.520|C01.925.813.400.520|C12.100.937.640.400.520|C18.452.915.520|C18.654.940.520|C20.673.480.520 C01.221.250.875|C01.221.812.640.400|C01.778.640.400|C01.925.782.815.616.400|C01.925.813.400|C12.100.937.640.400|C18.452.915|C18.654.940|C20.673.480 AIDS Wasting Syndrome|HIV Wasting Disease|Slim Disease|Wasting Disease, HIV|Wasting Syndrome, AIDS|Wasting Syndrome, HIV Immune system disease|Metabolic disease|Nutrition disorder|Viral disease HLA class 1 deficiency MESH:C538465 MESH:D016511 C16.320.798.750/C538465|C16.614.815/C538465|C18.452.284.800/C538465|C20.673.795.750/C538465 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Hoarding Disorder MESH:D000067836 Disordered behavior associated with clinically significant distress or impairment in social, occupational or other important areas of functioning and persistent difficulty parting with possessions due to a perceived need to save the items and distress associated with discarding them. (from DSM-V) The quantity of collected items sets the behavior apart from normal collecting behaviors. MESH:D009771 F03.080.600.250 F03.080.600 Disorders, Hoarding|Hoarding Disorders|Hoarding, Obsessive|Obsessive Hoarding Mental disorder Hoarseness MESH:D006685 An unnaturally deep or rough quality of voice. MESH:D012120|MESH:D012818|MESH:D014832 C08.360.940.490|C08.618.490|C09.400.940.490|C10.597.975.550|C23.888.592.979.550|C23.888.852.490 C08.360.940|C08.618|C09.400.940|C10.597.975|C23.888.592.979|C23.888.852 Hoarsenesses|Hoarseness, Neurogenic|Hoarseness of Voice|Hoarseness, Voice|Neurogenic Hoarseness|Neurogenic Hoarsenesses|Voice Hoarseness Ear-nose-throat disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Hodgkin Disease MESH:D006689 DO:DOID:8543|DO:DOID:8567|DO:DOID:8628|DO:DOID:8654|OMIM:236000 A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen. MESH:D008223 C04.557.386.355|C15.604.515.569.355|C20.683.515.761.355 C04.557.386|C15.604.515.569|C20.683.515.761 Adult Hodgkin Lymphoma|CHL|Disease, Hodgkin|Disease, Hodgkin's|Disease, Hodgkins|Granuloma, Hodgkin|Granuloma, Hodgkin's|Granuloma, Hodgkins|Granuloma, Malignant|HODGKIN DISEASE|Hodgkin Granuloma|Hodgkin Lymphoma|Hodgkin Lymphoma, Adult|Hodgkin's Disease|Hodgkins Disease|Hodgkin's Granuloma|Hodgkins Granuloma|Hodgkin's Lymphoma|Hodgkins Lymphoma|Lymphocyte Depletion Hodgkin's Lymphoma|Lymphocyte Rich Classical Hodgkin's Lymphoma|Lymphocyte-Rich Classical Hodgkin's Lymphoma|Lymphogranuloma, Malignant|Lymphogranulomas, Malignant|Lymphoma, Hodgkin|LYMPHOMA, HODGKIN, CLASSIC|Lymphoma, Hodgkin's|Malignant Granuloma|Malignant Granulomas|Malignant Lymphogranuloma|Malignant Lymphogranulomas|Mixed Cellularity Hodgkin's Lymphoma|Nodular Lymphocyte Predominant Hodgkin's Lymphoma|Nodular Lymphocyte-Predominant Hodgkin's Lymphoma|Nodular Sclerosing Hodgkin's Lymphoma Cancer|Immune system disease|Lymphatic disease Hodgkin disease, X-linked pseudoautosomal MESH:C538326 OMIM:300221 MESH:D006689|MESH:D040181 C04.557.386.355/C538326|C15.604.515.569.355/C538326|C16.320.322/C538326|C20.683.515.761.355/C538326 C04.557.386.355|C15.604.515.569.355|C16.320.322|C20.683.515.761.355 HODGKIN DISEASE, X-LINKED PSEUDOAUTOSOMAL|LYMPHOMA, HODGKIN, X-LINKED PSEUDOAUTOSOMAL Cancer|Genetic disease (inborn)|Immune system disease|Lymphatic disease Hodgkin Disease, Y-Linked Pseudoautosomal MESH:C564034 MESH:D006689|MESH:D050174 C04.557.386.355/C564034|C15.604.515.569.355/C564034|C16.320.338/C564034|C20.683.515.761.355/C564034 C04.557.386.355|C15.604.515.569.355|C16.320.338|C20.683.515.761.355 Cancer|Genetic disease (inborn)|Immune system disease|Lymphatic disease Hoffa Fracture MESH:D000092525 Coronal plane fractures of the FEMUR condyle at the KNEE. MESH:D000092443|MESH:D005264 C26.404.061.712|C26.404.525.250|C26.558.276.712|C26.558.554.625.250 C26.404.061|C26.404.525|C26.558.276|C26.558.554.625 Bicondylar Hoffa Fractures|Fracture, Hoffa|Fragment, Hoffa|Hoffa Fragment Wounds and injuries Ho Kaufman Mcalister syndrome MESH:C538325 MESH:D000014|MESH:D000015|MESH:D001847|MESH:D002972|MESH:D006330|MESH:D006618|MESH:D008844 C05.116/C538325|C05.500.460.185/C538325|C05.500.460.457/C538325|C05.660.207.540.460.185/C538325|C05.660.207.540.460.457/C538325|C05.660.297.500/C538325|C07.320.440.185/C538325|C07.320.440.457/C538325|C07.465.525.185/C538325|C07.650.500.460.185/C538325|C07.650.500.460.457/C538325|C07.650.525.185/C538325|C14.240.400/C538325|C14.280.400/C538325|C16.131.042/C538325|C16.131.077/C538325|C16.131.240.400/C538325|C16.131.621.207.540.460.185/C538325|C16.131.621.207.540.460.457/C538325|C16.131.621.297.500/C538325|C16.131.621.449/C538325|C16.131.850.500.460.185/C538325|C16.131.850.500.460.457/C538325|C16.131.850.525.185/C538325 C05.116|C05.500.460.185|C05.500.460.457|C05.660.207.540.460.185|C05.660.207.540.460.457|C05.660.297.500|C07.320.440.185|C07.320.440.457|C07.465.525.185|C07.650.500.460.185|C07.650.500.460.457|C07.650.525.185|C14.240.400|C14.280.400|C16.131.042|C16.131.077|C16.131.240.400|C16.131.621.207.540.460.185|C16.131.621.207.540.460.457|C16.131.621.297.500|C16.131.621.449|C16.131.850.500.460.185|C16.131.850.500.460.457|C16.131.850.525.185 Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease Holocarboxylase Synthetase Deficiency MESH:D028922 DO:DOID:859|OMIM:253270 The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase). MESH:D009100 C16.320.565.100.620.380|C16.320.565.202.720.380|C18.452.648.100.620.380|C18.452.648.202.720.380 C16.320.565.100.620|C16.320.565.202.720|C18.452.648.100.620|C18.452.648.202.720 Carboxylase Deficiency, Multiple, Neonatal Form|Deficiencies, HLCS|Deficiencies, Holocarboxylase Synthetase|Deficiency, HLCS|Deficiency, Holocarboxylase Synthetase|Deficiency, Multiple Carboxylase, Neonatal Form|Early Onset Biotin Responsive Multiple Carboxylase Deficiency|Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency|Early Onset Combined Carboxylase Deficiency|Early-Onset Combined Carboxylase Deficiency|HLCS Deficiencies|HLCS Deficiency|Holocarboxylase Synthetase Deficiencies|Infantile Multiple Carboxylase Deficiency|Multiple Carboxylase Deficiency, Early Onset|Multiple Carboxylase Deficiency, Neonatal Form Genetic disease (inborn)|Metabolic disease Holoprosencephaly MESH:D016142 DO:DOID:4621|OMIM:236100 Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES. MESH:D000015|MESH:D019465|MESH:D025063|MESH:D061085 C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 C05.660.207|C10.500.034|C16.131.077|C16.131.260|C16.131.621.207|C16.131.666.034|C16.320.180 Alobar Holoprosencephalies|Alobar Holoprosencephaly|Arhinencephalies|Arhinencephaly|CYCLOPIA|DEMYER SEQUENCE|Holoprosencephalies|Holoprosencephalies, Alobar|Holoprosencephalies, Lobar|Holoprosencephalies, Semilobar|HOLOPROSENCEPHALY 1|Holoprosencephaly, Alobar|Holoprosencephaly, Familial Alobar|Holoprosencephaly, Lobar|Holoprosencephaly, Semilobar|HPE1|HPEC|HPE, FAMILIAL|Lobar Holoprosencephalies|Lobar Holoprosencephaly|Semilobar Holoprosencephalies|Semilobar Holoprosencephaly Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Holoprosencephaly 10 MESH:C567278 MESH:D002872|MESH:D008850|MESH:D016142|MESH:D019066 C05.660.207.410/C567278|C10.500.034.875/C567278|C11.250.566/C567278|C16.131.077.410/C567278|C16.131.260.380/C567278|C16.131.384.666/C567278|C16.131.621.207.410/C567278|C16.131.666.034.875/C567278|C16.320.180.380/C567278|C23.550.210.050.500.500/C567278|C23.550.291.812/C567278 C05.660.207.410|C10.500.034.875|C11.250.566|C16.131.077.410|C16.131.260.380|C16.131.384.666|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380|C23.550.210.050.500.500|C23.550.291.812 Holoprosencephaly with Microphthalmia and First Branchial Arch Anomalies Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process) HOLOPROSENCEPHALY 11 OMIM:614226 DO:DOID:0110877 MESH:D016142 C05.660.207.410/614226|C10.500.034.875/614226|C16.131.077.410/614226|C16.131.260.380/614226|C16.131.621.207.410/614226|C16.131.666.034.875/614226|C16.320.180.380/614226 C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 HPE11 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Holoprosencephaly 2 MESH:C563579 DO:DOID:0110872|OMIM:157170 MESH:D016142 C05.660.207.410/C563579|C10.500.034.875/C563579|C16.131.077.410/C563579|C16.131.260.380/C563579|C16.131.621.207.410/C563579|C16.131.666.034.875/C563579|C16.320.180.380/C563579 C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 HPE2 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Holoprosencephaly 3 MESH:C564181 DO:DOID:0110875|OMIM:142945 MESH:D016142 C05.660.207.410/C564181|C10.500.034.875/C564181|C16.131.077.410/C564181|C16.131.260.380/C564181|C16.131.621.207.410/C564181|C16.131.666.034.875/C564181|C16.320.180.380/C564181 C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 HLP3|HPE3 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Holoprosencephaly 4 MESH:C564180 DO:DOID:0110880|OMIM:142946 MESH:D016142 C05.660.207.410/C564180|C10.500.034.875/C564180|C16.131.077.410/C564180|C16.131.260.380/C564180|C16.131.621.207.410/C564180|C16.131.666.034.875/C564180|C16.320.180.380/C564180 C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 HPE4 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Holoprosencephaly 5 MESH:C566464 DO:DOID:0110878|OMIM:609637 MESH:D016142 C05.660.207.410/C566464|C10.500.034.875/C566464|C16.131.077.410/C566464|C16.131.260.380/C566464|C16.131.621.207.410/C566464|C16.131.666.034.875/C566464|C16.320.180.380/C566464 C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 HPE5 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Holoprosencephaly 6 MESH:C565274 DO:DOID:0110874|OMIM:605934 MESH:D016142 C05.660.207.410/C565274|C10.500.034.875/C565274|C16.131.077.410/C565274|C16.131.260.380/C565274|C16.131.621.207.410/C565274|C16.131.666.034.875/C565274|C16.320.180.380/C565274 C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 HPE6 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Holoprosencephaly 7 MESH:C563660 DO:DOID:0110876|OMIM:610828 MESH:D016142 C05.660.207.410/C563660|C10.500.034.875/C563660|C16.131.077.410/C563660|C16.131.260.380/C563660|C16.131.621.207.410/C563660|C16.131.666.034.875/C563660|C16.320.180.380/C563660 C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 HPE7 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Holoprosencephaly 8 MESH:C563723 DO:DOID:0110879|OMIM:609408 MESH:D016142 C05.660.207.410/C563723|C10.500.034.875/C563723|C16.131.077.410/C563723|C16.131.260.380/C563723|C16.131.621.207.410/C563723|C16.131.666.034.875/C563723|C16.320.180.380/C563723 C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 HPE8 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Holoprosencephaly 9 MESH:C563659 DO:DOID:0110873|OMIM:610829 MESH:D007018|MESH:D016142|MESH:D017689 C05.660.207.410/C563659|C05.660.585.600/C563659|C10.228.140.617.738.300/C563659|C10.500.034.875/C563659|C16.131.077.410/C563659|C16.131.260.380/C563659|C16.131.621.207.410/C563659|C16.131.621.585.600/C563659|C16.131.666.034.875/C563659|C16.320.180.380/C563659|C19.700.482/C563659 C05.660.207.410|C05.660.585.600|C10.228.140.617.738.300|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.621.585.600|C16.131.666.034.875|C16.320.180.380|C19.700.482 HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES|HPE9|Pituitary Anomalies with Holoprosencephaly-Like Features Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate MESH:C564484 MESH:D002971|MESH:D002972|MESH:D006228|MESH:D008607|MESH:D016142 C05.390.408/C564484|C05.500.460.185/C564484|C05.660.207.410/C564484|C05.660.207.540.460.185/C564484|C05.660.585.988.425/C564484|C07.320.440.185/C564484|C07.465.409.225/C564484|C07.465.525.164/C564484|C07.465.525.185/C564484|C07.650.500.460.185/C564484|C07.650.525.164/C564484|C07.650.525.185/C564484|C10.500.034.875/C564484|C10.597.606.360/C564484|C16.131.077.410/C564484|C16.131.260.380/C564484|C16.131.621.207.410/C564484|C16.131.621.207.540.460.185/C564484|C16.131.621.585.988.500/C564484|C16.131.666.034.875/C564484|C16.131.850.500.460.185/C564484|C16.131.850.525.164/C564484|C16.131.850.525.185/C564484|C16.320.180.380/C564484|C23.888.592.604.646/C564484|F03.625.539/C564484 C05.390.408|C05.500.460.185|C05.660.207.410|C05.660.207.540.460.185|C05.660.585.988.425|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C10.500.034.875|C10.597.606.360|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.621.207.540.460.185|C16.131.621.585.988.500|C16.131.666.034.875|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.320.180.380|C23.888.592.604.646|F03.625.539 Hartsfield Syndrome Congenital abnormality|Genetic disease (inborn)|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Holoprosencephaly, recurrent infections, and monocytosis MESH:C538328 MESH:D007964|MESH:D016142 C05.660.207.410/C538328|C10.500.034.875/C538328|C15.378.553.475/C538328|C16.131.077.410/C538328|C16.131.260.380/C538328|C16.131.621.207.410/C538328|C16.131.666.034.875/C538328|C16.320.180.380/C538328|C23.550.526/C538328 C05.660.207.410|C10.500.034.875|C15.378.553.475|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380|C23.550.526 Blood disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process) Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence MESH:C564409 MESH:D001176|MESH:D005317|MESH:D016142 C05.550.150/C564409|C05.651.102/C564409|C05.660.077/C564409|C05.660.207.410/C564409|C10.500.034.875/C564409|C12.050.703.277.370/C564409|C16.131.077.410/C564409|C16.131.260.380/C564409|C16.131.621.077/C564409|C16.131.621.207.410/C564409|C16.131.666.034.875/C564409|C16.300.390/C564409|C16.320.180.380/C564409|C23.550.393.450/C564409 C05.550.150|C05.651.102|C05.660.077|C05.660.207.410|C10.500.034.875|C12.050.703.277.370|C16.131.077.410|C16.131.260.380|C16.131.621.077|C16.131.621.207.410|C16.131.666.034.875|C16.300.390|C16.320.180.380|C23.550.393.450 Congenital abnormality|Fetal disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Pregnancy complication Holt-Oram syndrome MESH:C535326 DO:DOID:0060468|OMIM:142900 MESH:D000015|MESH:D006330|MESH:D006344|MESH:D038061|MESH:D038062 C05.660.585.512/C535326|C05.660.585.988/C535326|C14.240.400.560.375/C535326|C14.240.400/C535326|C14.280.400.560.375/C535326|C14.280.400/C535326|C16.131.077/C535326|C16.131.240.400.560.375/C535326|C16.131.240.400/C535326|C16.131.621.585.512/C535326|C16.131.621.585.988/C535326 C05.660.585.512|C05.660.585.988|C14.240.400|C14.240.400.560.375|C14.280.400|C14.280.400.560.375|C16.131.077|C16.131.240.400|C16.131.240.400.560.375|C16.131.621.585.512|C16.131.621.585.988 Atriodigital dysplasia|Atrio-Digital Syndrome|Cardiac-Limb Syndrome|Cervico-Oculo-Acoustic Syndrome|Heart-hand syndrome|Heart-Hand Syndrome, Type 1|HOS|HOS1|Ventriculo-Radial Syndrome|Wildervanck syndrome Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Holzgreve Wagner Rehder syndrome MESH:C535327 DO:DOID:0060566 MESH:D000015|MESH:D002971|MESH:D002972|MESH:D006330 C05.500.460.185/C535327|C05.660.207.540.460.185/C535327|C07.320.440.185/C535327|C07.465.409.225/C535327|C07.465.525.164/C535327|C07.465.525.185/C535327|C07.650.500.460.185/C535327|C07.650.525.164/C535327|C07.650.525.185/C535327|C14.240.400/C535327|C14.280.400/C535327|C16.131.077/C535327|C16.131.240.400/C535327|C16.131.621.207.540.460.185/C535327|C16.131.850.500.460.185/C535327|C16.131.850.525.164/C535327|C16.131.850.525.185/C535327 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Complex congenital heart defect, renal agenesis, and cleft lip and palate|Holzgreve syndrome Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease Homocarnosinosis MESH:C535328 DO:DOID:0060177|OMIM:212200 MESH:D000592|MESH:D020739 C10.228.140.163.100/C535328|C16.320.565.100/C535328|C16.320.565.189/C535328|C18.452.132.100/C535328|C18.452.648.100/C535328|C18.452.648.189/C535328 C10.228.140.163.100|C16.320.565.100|C16.320.565.189|C18.452.132.100|C18.452.648.100|C18.452.648.189 Carnosinase Deficiency|Carnosinemia|Homocarnosinase deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease Homocysteinemia MESH:C566403 OMIM:603174 MESH:D020138 C16.320.565.100.480/C566403|C18.452.603.378/C566403|C18.452.648.100.480/C566403|C18.654.521.500.133.699.418/C566403 C16.320.565.100.480|C18.452.603.378|C18.452.648.100.480|C18.654.521.500.133.699.418 HYPERHOMOCYSTEINEMIA Genetic disease (inborn)|Metabolic disease|Nutrition disorder Homocystinuria MESH:D006712 DO:DOID:9263|OMIM:236200 Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979) MESH:D003240|MESH:D020138|MESH:D020739 C10.228.140.163.100.365|C16.320.565.100.480.500|C16.320.565.189.365|C17.300.428|C18.452.132.100.365|C18.452.648.100.480.500|C18.452.648.189.365 C10.228.140.163.100|C16.320.565.100.480|C16.320.565.189|C17.300|C18.452.132.100|C18.452.648.100.480|C18.452.648.189 CBS Deficiencies|CBS Deficiency|CBS DEFICIENCY HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED|Cystathionine Beta Synthase Deficiency|CYSTATHIONINE BETA-SYNTHASE DEFICIENCY|Cystathionine beta Synthase Deficiency Disease|Cystathionine beta-Synthase Deficiency Disease|Deficiencies, CBS|Deficiency, CBS|Deficiency Disease, Cystathionine beta Synthase|Deficiency Disease, Cystathionine beta-Synthase|HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY|HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE Connective tissue disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type MESH:C565510 OMIM:236270 MESH:D000749|MESH:D006712 C10.228.140.163.100.365/C565510|C15.378.071.252.196/C565510|C16.320.565.100.480.500/C565510|C16.320.565.189.365/C565510|C17.300.428/C565510|C18.452.132.100.365/C565510|C18.452.648.100.480.500/C565510|C18.452.648.189.365/C565510 C10.228.140.163.100.365|C15.378.071.252.196|C16.320.565.100.480.500|C16.320.565.189.365|C17.300.428|C18.452.132.100.365|C18.452.648.100.480.500|C18.452.648.189.365 HMAE|HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE|HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE|Methylcobalamin Deficiency, CblE Type|Vitamin B12-Responsive Homocystinuria, CblE Type Blood disease|Connective tissue disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Homocystinuria, Pyridoxine-Responsive MESH:C565513 MESH:D006712 C10.228.140.163.100.365/C565513|C16.320.565.100.480.500/C565513|C16.320.565.189.365/C565513|C17.300.428/C565513|C18.452.132.100.365/C565513|C18.452.648.100.480.500/C565513|C18.452.648.189.365/C565513 C10.228.140.163.100.365|C16.320.565.100.480.500|C16.320.565.189.365|C17.300.428|C18.452.132.100.365|C18.452.648.100.480.500|C18.452.648.189.365 Connective tissue disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Homozygous 11p15-p14 Deletion Syndrome MESH:C564701 OMIM:606528 MESH:D002872|MESH:D006319|MESH:D006946|MESH:D007410 C06.405.469/C564701|C09.218.458.341.887/C564701|C10.597.751.418.341.887/C564701|C18.452.394.968/C564701|C23.550.210.050.500.500/C564701|C23.888.592.763.393.341.887/C564701 C06.405.469|C09.218.458.341.887|C10.597.751.418.341.887|C18.452.394.968|C23.550.210.050.500.500|C23.888.592.763.393.341.887 Hyperinsulinism, Infantile, with Enteropathy and Deafness Digestive system disease|Ear-nose-throat disease|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms Homozygous Familial Hypercholesterolemia MESH:D000090542 A rare inherited genetic disorder, one form of HYPERLIPOPROTEINEMIA TYPE II, characterized by high level of LOW-DENSITY LIPOPROTEIN (LDL) which if not treated could elevate the chance of heart attack at an early age. MESH:D006938 C16.320.565.398.481.500|C18.452.584.500.500.644.475.500|C18.452.584.563.481.500|C18.452.648.398.481.500 C16.320.565.398.481|C18.452.584.500.500.644.475|C18.452.584.563.481|C18.452.648.398.481 HoFH|Hypercholesterolemias, Homozygous Familial Genetic disease (inborn)|Metabolic disease Hooft disease MESH:C535329 MESH:D004890|MESH:D006130|MESH:D008607|MESH:D009260|MESH:D050171 C10.597.606.360/C535329|C17.800.229/C535329|C17.800.529/C535329|C18.452.584.500/C535329|C23.550.393/C535329|C23.888.592.604.646/C535329|C23.888.885.328/C535329|F03.625.539/C535329 C10.597.606.360|C17.800.229|C17.800.529|C18.452.584.500|C23.550.393|C23.888.592.604.646|C23.888.885.328|F03.625.539 Mental disorder|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Hookworm Infections MESH:D006725 Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ANCYLOSTOMIASIS and NECATORIASIS are available. MESH:D017206 C01.610.335.508.700.775.455 C01.610.335.508.700.775 Bunostomiases|Bunostomiasis|Hookworm Infection|Infection, Hookworm|Infections, Hookworm Parasitic disease Hordeolum MESH:D006726 DO:DOID:9909 Purulent infection of one of the sebaceous glands of Zeis along the eyelid margin (external) or of the meibomian gland on the conjunctival side of the eyelid (internal). MESH:D005141|MESH:D015818 C01.150.252.289.400|C01.375.354.400|C11.294.354.400|C11.338.648 C01.150.252.289|C01.375.354|C11.294.354|C11.338 Hordeola|Hordeolas|Stye|Styes Bacterial infection or mycosis|Eye disease Hordnes Engebretsen Knudtson syndrome MESH:C536067 MESH:D000015|MESH:D003398|MESH:D008607|MESH:D011666 C05.116.099.370.894.232/C536067|C05.660.207.240/C536067|C05.660.906.364/C536067|C10.597.606.360/C536067|C14.280.484.716/C536067|C14.280.955.750/C536067|C16.131.077/C536067|C16.131.621.207.240/C536067|C16.131.621.906.364/C536067|C23.888.592.604.646/C536067|F03.625.539/C536067 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C10.597.606.360|C14.280.484.716|C14.280.955.750|C16.131.077|C16.131.621.207.240|C16.131.621.906.364|C23.888.592.604.646|F03.625.539 Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Horner Syndrome MESH:D006732 DO:DOID:11486 A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11) MESH:D001342|MESH:D015877 C10.177.350|C10.597.690.362.500|C11.710.528.500|C23.888.592.708.362.500 C10.177|C10.597.690.362|C11.710.528|C23.888.592.708.362 Acquired Horner Syndrome|Bernard's Syndrome|Bernards Syndrome|Bernard Syndrome|Bernard Syndromes|Central Horner Syndrome|Claude Bernard Horner Syndrome|Claude Bernard-Horner Syndrome|Horner's Syndrome|Horners Syndrome|Horner's Syndrome, Pupil|Horners Syndrome, Pupil|Horner Syndrome, Acquired|Horner Syndrome, Central|Horner Syndrome, Pupil|Miosis, Innervational Defect|Ocular Ophthalmoplegias, Sympathetic|Ocular-Ophthalmoplegias, Sympathetic|Ocular Ophthalmoplegia, Sympathetic|Ocular-Ophthalmoplegia, Sympathetic|Oculosympathetic Syndrome|Oculosympathetic Syndromes|Ophthalmoplegias, Sympathetic Ocular|Ophthalmoplegia, Sympathetic Ocular|Ptosis Sympathetic|Pupil Horner's Syndrome|Sympathetic Ocular Ophthalmoplegia|Sympathetic Ocular-Ophthalmoplegia|Sympathetic Ocular Ophthalmoplegias|Sympathetic Ocular-Ophthalmoplegias|Syndrome, Acquired Horner|Syndrome, Bernard|Syndrome, Bernard's|Syndrome, Central Horner|Syndrome, Claude Bernard-Horner|Syndrome, Horner|Syndrome, Horner's|Syndrome, Oculosympathetic|Syndrome, Pupil Horner's|Syndromes, Bernard|Syndromes, Oculosympathetic Eye disease|Nervous system disease|Signs and symptoms Horner Syndrome, Congenital MESH:C564178 MESH:D006732 C10.177.350/C564178|C10.597.690.362.500/C564178|C11.710.528.500/C564178|C23.888.592.708.362.500/C564178 C10.177.350|C10.597.690.362.500|C11.710.528.500|C23.888.592.708.362.500 Eye disease|Nervous system disease|Signs and symptoms Horse Diseases MESH:D006734 Diseases of domestic and wild horses of the species Equus caballus. MESH:D000820 C22.488 C22 Disease, Equine|Disease, Horse|Diseases, Equine|Diseases, Horse|Equine Disease|Equine Diseases|Horse Disease Animal disease Hot Flashes MESH:D019584 A sudden, temporary sensation of heat predominantly experienced by some women during MENOPAUSE. (Random House Unabridged Dictionary, 2d ed) MESH:D012816 C23.888.475 C23.888 Flashes, Hot Signs and symptoms HOUGE-JANSSENS SYNDROME 1 OMIM:616355 DO:DOID:0070065 MESH:D008607 C10.597.606.360/616355|C23.888.592.604.646/616355|F03.625.539/616355 C10.597.606.360|C23.888.592.604.646|F03.625.539 HJS1|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35|MENTAL RETARDATION, AUTOSOMAL DOMINANT 35|MRD35 Mental disorder|Nervous system disease|Signs and symptoms Hoyeraal Hreidarsson syndrome MESH:C536068 MESH:D005317|MESH:D008607|MESH:D008831|MESH:D019871 C05.660.207.620/C536068|C10.500.507.400.500/C536068|C10.597.606.360/C536068|C12.050.703.277.370/C536068|C15.378.190.223.500.750/C536068|C16.131.621.207.620/C536068|C16.131.666.507.400.500/C536068|C16.131.831.150/C536068|C16.300.390/C536068|C16.320.322.108/C536068|C16.320.850.235/C536068|C17.800.804.150/C536068|C17.800.827.235/C536068|C23.550.393.450/C536068|C23.888.592.604.646/C536068|F03.625.539/C536068 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C12.050.703.277.370|C15.378.190.223.500.750|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.831.150|C16.300.390|C16.320.322.108|C16.320.850.235|C17.800.804.150|C17.800.827.235|C23.550.393.450|C23.888.592.604.646|F03.625.539 Cerebellar hypoplasia with pancytopenia|Hoyeraal-Hreidarsson Syndrome Blood disease|Congenital abnormality|Fetal disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Pregnancy complication|Signs and symptoms|Skin disease HTLV-II Infections MESH:D015491 Diseases caused by HUMAN T-LYMPHOTROPIC VIRUS 2. MESH:D006800 C01.925.782.815.200.480|C20.673.483.480 C01.925.782.815.200|C20.673.483 HTLV-II Infection|Human T lymphotropic Virus 2 Infection|Human T-lymphotropic Virus 2 Infection|Human T lymphotropic Virus 2 Infections|Human T-lymphotropic Virus 2 Infections|Infection, HTLV-II|Infections, HTLV II|Infections, HTLV-II Immune system disease|Viral disease HTLV-I Infections MESH:D015490 Diseases caused by HUMAN T-LYMPHOTROPIC VIRUS 1. MESH:D006800 C01.925.782.815.200.470|C20.673.483.470 C01.925.782.815.200|C20.673.483 HTLV-I Infection|HTLV I Infections|Human T lymphotropic Virus 1 Infection|Human T-lymphotropic Virus 1 Infection|Human T lymphotropic Virus 1 Infections|Human T-lymphotropic Virus 1 Infections|Infection, HTLV-I|Infections, HTLV I|Infections, HTLV-I Immune system disease|Viral disease Human Herpesvirus 6 encephalitis MESH:C538117 MESH:D018792|MESH:D019349 C01.207.245.340/C538117|C01.207.399.750/C538117|C01.925.182.525/C538117|C01.925.256.466.850/C538117|C10.228.140.430.520.750/C538117|C10.228.228.245.340/C538117|C10.228.228.399.750/C538117|C10.586.250.520.750/C538117 C01.207.245.340|C01.207.399.750|C01.925.182.525|C01.925.256.466.850|C10.228.140.430.520.750|C10.228.228.245.340|C10.228.228.399.750|C10.586.250.520.750 Nervous system disease|Viral disease Human Herpesvirus Type 6, Integrated MESH:C565771 MESH:D019349 C01.925.256.466.850/C565771 C01.925.256.466.850 Viral disease HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1 OMIM:167959 MESH:D002583 C04.588.945.418.948.850/167959|C12.050.351.500.852.593.131/167959|C12.050.351.500.852.762.850/167959|C12.050.351.937.418.875.850/167959|C12.100.250.852.593.131/167959|C12.100.250.852.762.850/167959|C12.900.418.875.850/167959 C04.588.945.418.948.850|C12.050.351.500.852.593.131|C12.050.351.500.852.762.850|C12.050.351.937.418.875.850|C12.100.250.852.593.131|C12.100.250.852.762.850|C12.900.418.875.850 HPV18I1|PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1 Cancer|Urogenital disease (female) HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2 OMIM:167960 MESH:D002583 C04.588.945.418.948.850/167960|C12.050.351.500.852.593.131/167960|C12.050.351.500.852.762.850/167960|C12.050.351.937.418.875.850/167960|C12.100.250.852.593.131/167960|C12.100.250.852.762.850/167960|C12.900.418.875.850/167960 C04.588.945.418.948.850|C12.050.351.500.852.593.131|C12.050.351.500.852.762.850|C12.050.351.937.418.875.850|C12.100.250.852.593.131|C12.100.250.852.762.850|C12.900.418.875.850 HPV18I2|PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2 Cancer|Urogenital disease (female) Human spumaretrovirus infection MESH:C536069 MESH:D012192 C01.925.782.815/C536069 C01.925.782.815 Human spumaretroviridae infection Viral disease Humeral Fractures MESH:D006810 Fractures of the HUMERUS. MESH:D001134|MESH:D050723 C26.088.390|C26.404.500 C26.088|C26.404 Fracture, Humeral|Fracture, Humeri|Fracture, Humerus|Humeral Fracture|Humeri Fracture|Humeri Fractures|Humerus Fracture|Humerus Fractures Wounds and injuries Humeral Fractures, Distal MESH:D000092483 Fractures of the distal HUMERUS at the ELBOW JOINT. MESH:D000092482|MESH:D006810 C26.088.134.500.500|C26.088.390.500|C26.404.020.125|C26.404.500.500 C26.088.134.500|C26.088.390|C26.404.020|C26.404.500 Capitellar Fracture, Humeral|Capitellum Humeri Fracture|Capitellum Humeri Fractures|Capitellum Humerus Fracture|Capitellum Humerus Fractures|Distal Humeral Fracture|Distal Humeral Fractures|Distal Humerus Fracture|Distal Humerus Fractures|Fracture, Capitellum Humeri|Fracture, Capitellum Humerus|Fracture, Distal Humeral|Fracture, Distal Humerus|Fracture, Hahn-Steinthal|Fracture, Humeral Capitellar|Fracture, Humeral Trochlear|Fracture, Humerus Trochlear|Fracture, Intercondylar Humeral|Fracture, Intercondylar Humerus|Fracture, Kocher-Lorenz|Fractures, Humeral Capitellar|Fractures, Humeral Trochlear|Hahn Steinthal Fracture|Hahn-Steinthal Fracture|Humeral Capitellar Fracture|Humeral Capitellar Fractures|Humeral Fracture, Distal|Humeral Fracture, Intercondylar|Humeral Trochlear Fracture|Humeral Trochlear Fractures|Humeri Fracture, Capitellum|Humerus Fracture, Capitellum|Humerus Fracture, Distal|Humerus Fracture, Intercondylar|Humerus Trochlear Fracture|Humerus Trochlear Fractures|Intercondylar Humeral Fracture|Intercondylar Humeral Fractures|Intercondylar Humerus Fracture|Intercondylar Humerus Fractures|Kocher Lorenz Fracture|Kocher-Lorenz Fracture|Lateral Condylar Fracture of Humerus|Lateral Condylar Fractures of Humerus|Lateral Condyle Fracture of Humerus|Lateral Condyle Fractures of Humerus|Lateral Epicondylar Fracture of Humerus|Lateral Epicondylar Fractures of Humerus|Lateral Epicondyle Fracture of Humerus|Lateral Epicondyle Fractures of Humerus|Lateral Epicondyle Fractures of the Elbow|Lateral Humeral Condyle Fractures|Supracondylar Distal Humeral Fracture|Supracondylar Distal Humeral Fractures|Supracondylar Distal Humerus Fracture|Supracondylar Distal Humerus Fractures|Trochlear Fracture, Humeral|Trochlear Fracture, Humerus|Trochlear Fractures, Humerus Wounds and injuries Humeroradial Multiple Synostosis Syndrome MESH:C565509 MESH:D013580 C05.116.099.370.894/C565509|C05.660.906/C565509|C16.131.621.906/C565509 C05.116.099.370.894|C05.660.906|C16.131.621.906 Congenital abnormality|Musculoskeletal disease Humeroradial Synostosis with Craniofacial Anomalies MESH:C566888 MESH:D013580|MESH:D019465 C05.116.099.370.894/C566888|C05.660.207/C566888|C05.660.906/C566888|C16.131.621.207/C566888|C16.131.621.906/C566888 C05.116.099.370.894|C05.660.207|C05.660.906|C16.131.621.207|C16.131.621.906 Congenital abnormality|Musculoskeletal disease Humoral Hypercalcemia Of Malignancy MESH:C562390 MESH:D006934|MESH:D010257 C04.730/C562390|C18.452.174.451/C562390|C18.452.950.340/C562390 C04.730|C18.452.174.451|C18.452.950.340 Cancer|Metabolic disease Hunter Carpenter Macdonald syndrome MESH:C536071 MESH:D019150 C10.228.140.744/C536071 C10.228.140.744 Nervous system disease Hunter-Macdonald Syndrome MESH:C567445 MESH:D000015|MESH:D008579 C04.557.580.520/C567445|C04.557.645.520/C567445|C04.588.614.250.580.500/C567445|C10.551.240.500.500/C567445|C16.131.077/C567445 C04.557.580.520|C04.557.645.520|C04.588.614.250.580.500|C10.551.240.500.500|C16.131.077 Cancer|Congenital abnormality|Nervous system disease Hunter-McAlpine syndrome MESH:C536072 MESH:D003398|MESH:D006130|MESH:D008607 C05.116.099.370.894.232/C536072|C05.660.207.240/C536072|C05.660.906.364/C536072|C10.597.606.360/C536072|C16.131.621.207.240/C536072|C16.131.621.906.364/C536072|C23.550.393/C536072|C23.888.592.604.646/C536072|F03.625.539/C536072 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C10.597.606.360|C16.131.621.207.240|C16.131.621.906.364|C23.550.393|C23.888.592.604.646|F03.625.539 Hunter-McAlpine craniosynostosis|Hunter-McAlpine craniosynostosis syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Huntington Disease MESH:D006816 DO:DOID:12858|OMIM:143100 A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) MESH:D001480|MESH:D002819|MESH:D003072|MESH:D003704|MESH:D020271 C10.228.140.079.545|C10.228.140.380.278|C10.228.662.262.249.750|C10.574.500.497|C16.320.400.430|F03.615.250.400|F03.615.400.390 C10.228.140.079|C10.228.140.380|C10.228.662.262.249|C10.574.500|C16.320.400|F03.615.250|F03.615.400 Akinetic Rigid Variant of Huntington Disease|Akinetic-Rigid Variant of Huntington Disease|Chorea, Chronic Progressive Hereditary (Huntington)|Chorea, Huntington|Chorea, Huntington's|Chronic Progressive Hereditary Chorea (Huntington)|HD|Huntington Chorea|Huntington Chronic Progressive Hereditary Chorea|Huntington Disease, Akinetic Rigid Variant|Huntington Disease, Akinetic-Rigid Variant|Huntington Disease, Juvenile|Huntington Disease, Juvenile Onset|Huntington Disease, Juvenile-Onset|Huntington Disease, Late Onset|Huntington Disease, Late-Onset|Huntington's Chorea|Huntington's Disease|Juvenile Huntington Disease|Juvenile Onset Huntington Disease|Juvenile-Onset Huntington Disease|Late Onset Huntington Disease|Late-Onset Huntington Disease|Progressive Chorea, Chronic Hereditary (Huntington)|Progressive Chorea, Hereditary, Chronic (Huntington) Genetic disease (inborn)|Mental disorder|Nervous system disease Huntington Disease-Like 1 MESH:C566398 OMIM:603218 MESH:D006816 C10.228.140.079.545/C566398|C10.228.140.380.278/C566398|C10.228.662.262.249.750/C566398|C10.574.500.497/C566398|C16.320.400.430/C566398|F03.615.250.400/C566398|F03.615.400.390/C566398 C10.228.140.079.545|C10.228.140.380.278|C10.228.662.262.249.750|C10.574.500.497|C16.320.400.430|F03.615.250.400|F03.615.400.390 HDL1|HLN1|Huntington-Like Neurodegenerative Disorder 1|Huntington-Like Neurodegenerative Disorder, Autosomal Dominant|Prion Disease, Early-Onset, With Prominent Psychiatric Features Genetic disease (inborn)|Mental disorder|Nervous system disease Huntington Disease-Like 2 MESH:C564708 OMIM:606438 MESH:D002819|MESH:D003072|MESH:D003704|MESH:D020271 C10.228.140.380/C564708|C10.228.662.262.249/C564708|C10.574.500/C564708|C10.597.350.250/C564708|C16.320.400/C564708|C23.888.592.350.250/C564708|F03.615.250/C564708|F03.615.400/C564708 C10.228.140.380|C10.228.662.262.249|C10.574.500|C10.597.350.250|C16.320.400|C23.888.592.350.250|F03.615.250|F03.615.400 HDL2 Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Huntington Disease-Like 3 MESH:C565747 OMIM:604802 MESH:D006816 C10.228.140.079.545/C565747|C10.228.140.380.278/C565747|C10.228.662.262.249.750/C565747|C10.574.500.497/C565747|C16.320.400.430/C565747|F03.615.250.400/C565747|F03.615.400.390/C565747 C10.228.140.079.545|C10.228.140.380.278|C10.228.662.262.249.750|C10.574.500.497|C16.320.400.430|F03.615.250.400|F03.615.400.390 HDL3|Huntington Disease-Like Neurodegenerative Disorder, Autosomal Recessive Genetic disease (inborn)|Mental disorder|Nervous system disease Huntington Disease-Like Syndrome MESH:C580174 MESH:D020271 C10.574.500/C580174|C16.320.400/C580174 C10.574.500|C16.320.400 Huntington Disease-Like Syndromes|Huntington's Disease-Like Syndromes|Huntington's Disease Phenocopies|Huntington's Disease Phenocopy Syndromes Genetic disease (inborn)|Nervous system disease Hunt's syndrome MESH:C535287 MESH:D002527 C10.228.140.252.700.250/C535287|C10.228.854.787.500/C535287|C10.574.500.825.250/C535287|C16.320.400.780.500/C535287 C10.228.140.252.700.250|C10.228.854.787.500|C10.574.500.825.250|C16.320.400.780.500 Myoclonus and Ataxia|Ramsay Hunt Syndrome type 2 Genetic disease (inborn)|Nervous system disease Hutchinson's Melanotic Freckle MESH:D018327 A cellular subtype of malignant melanoma. It is a pigmented lesion composed of melanocytes occurring on sun-exposed skin, usually the face and neck. The melanocytes are commonly multinucleated with a 'starburst' appearance. It is considered by many to be the in situ phase of lentigo maligna melanoma. MESH:D008545 C04.557.465.625.650.510.385|C04.557.580.625.650.510.385|C04.557.665.510.385 C04.557.465.625.650.510|C04.557.580.625.650.510|C04.557.665.510 Freckle, Hutchinson's Melanotic|Freckle, Melanotic|Freckles, Melanotic|Hutchinson Melanotic Freckle|Hutchinsons Melanotic Freckle|Lentigo Maligna|Lentigo, Malignant|Lentigos, Malignant|Malignant Lentigo|Malignant Lentigos|Melanotic Freckle|Melanotic Freckle, Hutchinson's|Melanotic Freckles Cancer Hutterite cerebroosteonephrodysplasia syndrome MESH:C536074 MESH:D006130|MESH:D009404 C12.050.351.968.419.630.643/C536074|C12.200.777.419.630.643/C536074|C12.950.419.630.643/C536074|C23.550.393/C536074 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643|C23.550.393 Cerebroosteonephrosis syndrome|Congenital shortness with mild spondylorhizomelic dwarfism Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Hyaline Membrane Disease MESH:D006819 DO:DOID:12716 A respiratory distress syndrome in newborn infants, usually premature infants with insufficient PULMONARY SURFACTANTS. The disease is characterized by the formation of a HYALINE-like membrane lining the terminal respiratory airspaces (PULMONARY ALVEOLI) and subsequent collapse of the lung (PULMONARY ATELECTASIS). MESH:D012127 C08.381.840.500.475|C08.618.840.500.475|C16.614.521.563.475 C08.381.840.500|C08.618.840.500|C16.614.521.563 Disease, Hyaline Membrane|Diseases, Hyaline Membrane|Hyaline Membrane Diseases Infant-newborn disease|Respiratory tract disease Hyalinosis, Systemic MESH:D057770 DO:DOID:0111669|OMIM:228600 Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder. MESH:D012873 C16.320.850.368|C17.800.827.384 C16.320.850|C17.800.827 Fibromatosis Hyalinica Multiplex Juvenilis|Fibromatosis Juvenile Hyaline|Fibromatosis, Juvenile Hyaline|Fibromatosis Syndrome, Hyaline|Fibromatosis Syndromes, Hyaline|HFS|Hyaline Fibromatosis Juvenile|Hyaline Fibromatosis, Juvenile|Hyaline Fibromatosis Syndrome|Hyaline Fibromatosis Syndromes|Hyalinoses, Infantile Systemic|Hyalinoses, Juvenile|Hyalinoses, Systemic|Hyalinoses, Systemic Juvenile|Hyalinosis, Infantile Systemic|Hyalinosis, Juvenile|HYALINOSIS, SYSTEMIC|Hyalinosis, Systemic Juvenile|Infantile Systemic Hyalinoses|Infantile Systemic Hyalinosis|Juvenile Hyaline Fibromatoses|Juvenile Hyaline Fibromatosis|Juvenile Hyalinoses|Juvenile Hyalinoses, Systemic|Juvenile Hyalinosis|Juvenile Hyalinosis, Systemic|Murray Syndrome|Puretic Syndrome|Puretic Syndromes|Syndrome, Hyaline Fibromatosis|Syndrome, Murray|Syndrome, Puretic|Syndromes, Hyaline Fibromatosis|Syndromes, Puretic|Systemic Hyalinoses|Systemic Hyalinoses, Infantile|Systemic Hyalinosis|Systemic Hyalinosis, Infantile|Systemic Juvenile Hyalinoses|Systemic Juvenile Hyalinosis Genetic disease (inborn)|Skin disease Hyalohyphomycosis MESH:D060605 OPPORTUNISTIC INFECTIONS caused by a heterogeneous group of MITOSPORIC FUNGI with clear (hyalo-) HYPHAE in the host. Common causative agents include ACREMONIUM; ASPERGILLUS; CHRYSOSPORIUM; FUSARIUM; PAECILOMYCES; PENICILLIUM; PSEUDALLESCHERIA; SCEDOSPORIUM; and SCOPULARIOPSIS. Normally a dermatomycoses, it can become invasive in the IMMUNOCOMPROMISED HOST. MESH:D003881 C01.150.703.302.383|C01.800.200.383|C17.800.838.208.416 C01.150.703.302|C01.800.200|C17.800.838.208 Cutaneous Hyalohyphomycoses|Cutaneous Hyalohyphomycosis|Disseminated Hyalohyphomycoses|Disseminated Hyalohyphomycosis|Hyalohyphomycoses|Hyalohyphomycoses, Cutaneous|Hyalohyphomycoses, Disseminated|Hyalohyphomycoses, Invasive|Hyalohyphomycoses, Pulmonary|Hyalohyphomycoses, Splenic|Hyalohyphomycoses, Subcutaneous|Hyalohyphomycosis, Cutaneous|Hyalohyphomycosis, Disseminated|Hyalohyphomycosis, Invasive|Hyalohyphomycosis, Pulmonary|Hyalohyphomycosis, Splenic|Hyalohyphomycosis, Subcutaneous|Invasive Hyalohyphomycoses|Invasive Hyalohyphomycosis|Pulmonary Hyalohyphomycoses|Pulmonary Hyalohyphomycosis|Splenic Hyalohyphomycoses|Splenic Hyalohyphomycosis|Subcutaneous Hyalohyphomycoses|Subcutaneous Hyalohyphomycosis Bacterial infection or mycosis|Skin disease Hyaloideoretinal degeneration of Wagner MESH:C536075 OMIM:143200 MESH:D012162 C11.270.612/C536075|C11.768.585/C536075 C11.270.612|C11.768.585 Erosive vitreoretinopathy|ERVR|HYALOIDEORETINAL DEGENERATION OF WAGNER|Vcan-Related Vitreoretinopathy|Wagner Disease|Wagner Syndrome|Wagner Syndrome 1|Wagner syndrome type 1|Wagner vitreoretinal degeneration|WAGNER VITREORETINOPATHY|WGN1|WGVRP Eye disease Hyaluronan Metabolism, Defect in MESH:C565742 MESH:D008661|MESH:D012873 C16.320.565/C565742|C16.320.850/C565742|C17.800.827/C565742|C18.452.648/C565742 C16.320.565|C16.320.850|C17.800.827|C18.452.648 Genetic disease (inborn)|Metabolic disease|Skin disease Hyaluronidase Deficiency MESH:C563209 OMIM:601492 MESH:D009083 C16.320.565.202.715/C563209|C16.320.565.595.600/C563209|C17.300.550.575/C563209|C18.452.648.202.715/C563209|C18.452.648.595.600/C563209 C16.320.565.202.715|C16.320.565.595.600|C17.300.550.575|C18.452.648.202.715|C18.452.648.595.600 HYALURONIDASE DEFICIENCY|MPS9|MPS IX|Mucopolysaccharidosis Type IX|MUCOPOLYSACCHARIDOSIS, TYPE IX Connective tissue disease|Genetic disease (inborn)|Metabolic disease Hydatidiform Mole MESH:D006828 DO:DOID:3590|OMIM:231090|OMIM:614293 Trophoblastic hyperplasia associated with normal gestation, or molar pregnancy. It is characterized by the swelling of the CHORIONIC VILLI and elevated human CHORIONIC GONADOTROPIN. Hydatidiform moles or molar pregnancy may be categorized as complete or partial based on their gross morphology, histopathology, and karyotype. MESH:D031901 C04.557.465.955.416.812|C04.850.908.416.750|C12.050.703.720.949.416.875 C04.557.465.955.416|C04.850.908.416|C12.050.703.720.949.416 CHM|Complete Hydatidiform Mole|Complete Hydatidiform Moles|GESTATIONAL TROPHOBLASTIC DISEASE|HYDATIDIFORM MOLE|Hydatidiform Mole, Complete|Hydatidiform Mole, Partial|HYDATIDIFORM MOLE, RECURRENT, 1|HYDATIDIFORM MOLE, RECURRENT, 2|Hydatidiform Moles|Hydatidiform Moles, Complete|Hydatidiform Moles, Partial|Hydatid Mole|Hydatid Moles|HYDM|HYDM1|HYDM2|Molar Pregnancies|Molar Pregnancy|Mole, Complete Hydatidiform|Mole, Hydatid|Mole, Hydatidiform|Mole, Partial Hydatidiform|Moles, Complete Hydatidiform|Moles, Hydatid|Moles, Hydatidiform|Moles, Partial Hydatidiform|Partial Hydatidiform Mole|Partial Hydatidiform Moles|Pregnancies, Molar|Pregnancy, Molar Cancer|Pregnancy complication Hydatidiform Mole, Invasive MESH:D002820 A uterine tumor derived from persistent gestational TROPHOBLASTS, most likely after a molar pregnancy (HYDATIDIFORM MOLE). Invasive hyadatiform mole develops in about 15% of patients after evacuation of a complete mole and less frequently after other types of gestation. It may perforate the MYOMETRIUM and erode uterine vessels causing hemorrhage. MESH:D006828 C04.557.465.955.416.812.500|C04.850.908.416.750.500|C12.050.703.720.949.416.875.500 C04.557.465.955.416.812|C04.850.908.416.750|C12.050.703.720.949.416.875 Chorioadenoma|Chorioadenomas|Hydatidiform Moles, Invasive|Invasive Hydatidiform Mole|Invasive Hydatidiform Moles|Invasive Mole|Invasive Moles|Mole, Invasive|Mole, Invasive Hydatidiform|Moles, Invasive|Moles, Invasive Hydatidiform Cancer|Pregnancy complication Hydranencephaly MESH:D006832 DO:DOID:4626 A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307) MESH:D009421 C10.500.450|C16.131.666.450 C10.500|C16.131.666 Absence of Cerebral Hemispheres, Congenital|Cerebral Hemispheres, Absence, Congenital|Congenital Absence of Cerebral Hemispheres|Hemihydranencephalies|Hemihydranencephaly|Hydranencephalies|Hydranencephaly with Proliferative Vasculopathy Congenital abnormality|Nervous system disease Hydranencephaly with Renal Aplasia-Dysplasia MESH:C565507 MESH:D006832|MESH:D007674 C10.500.450/C565507|C12.050.351.968.419/C565507|C12.200.777.419/C565507|C12.950.419/C565507|C16.131.666.450/C565507 C10.500.450|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.666.450 Congenital abnormality|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Hydrarthrosis MESH:D006833 Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed) MESH:D007592 C05.550.509 C05.550 Hydrarthroses Musculoskeletal disease Hydroa Vacciniforme MESH:D006837 A vesicular and bullous eruption having a tendency to recur in summer during childhood and commonly appearing on sun-exposed skin. The lesions are surrounded by an erythematous zone and resemble a vaccination. (From Dorland, 27th ed) MESH:D010787|MESH:D012872 C17.800.600.425|C17.800.865.575 C17.800.600|C17.800.865 Skin disease Hydroa vacciniforme, familial MESH:C536077 MESH:D006837 C17.800.600.425/C536077|C17.800.865.575/C536077 C17.800.600.425|C17.800.865.575 Familial hydroa vacciniforme Skin disease Hydrocephalus MESH:D006849 DO:DOID:10908|DO:DOID:14159|DO:DOID:1573|OMIM:236600 Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA. MESH:D001927 C10.228.140.602 C10.228.140 Aqueductal Stenoses|Aqueductal Stenosis|Cerebral Ventriculomegalies|Cerebral Ventriculomegalies, Fetal|Cerebral Ventriculomegaly|Cerebral Ventriculomegaly, Fetal|Communicating Hydrocephalus|Congenital Hydrocephalus|Fetal Cerebral Ventriculomegalies|Fetal Cerebral Ventriculomegaly|HYC1|Hydrocephalus, Communicating|Hydrocephalus, Congenital|HYDROCEPHALUS, CONGENITAL, 1|Hydrocephalus Ex Vacuo|Hydrocephalus Ex-Vacuo|Hydrocephalus Ex-Vacuos|HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1, FORMERLY|Hydrocephalus, Obstructive|Hydrocephalus, Post-Traumatic|Hydrocephaly|Obstructive Hydrocephalus|Post Traumatic Hydrocephalus|Post-Traumatic Hydrocephalus|Stenoses, Aqueductal|Stenosis, Aqueductal|Ventriculomegalies, Cerebral|Ventriculomegalies, Fetal Cerebral|VENTRICULOMEGALY|Ventriculomegaly, Cerebral|Ventriculomegaly, Fetal Cerebral Nervous system disease Hydrocephalus, Autosomal Dominant MESH:C563973 MESH:D006849 C10.228.140.602/C563973 C10.228.140.602 Nervous system disease HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES OMIM:615219 DO:DOID:10908 MESH:D006849 C10.228.140.602/615219 C10.228.140.602 HYC2|HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, FORMERLY Nervous system disease Hydrocephalus, endocardial fibroelastosis, and cataracts MESH:C535855 MESH:D002386|MESH:D004695|MESH:D006849 C10.228.140.602/C535855|C11.510.245/C535855|C14.280.238.281/C535855 C10.228.140.602|C11.510.245|C14.280.238.281 Communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts Cardiovascular disease|Eye disease|Nervous system disease Hydrocephalus, Normal Pressure MESH:D006850 DO:DOID:1572|OMIM:236690 A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3) MESH:D006849 C10.228.140.602.750 C10.228.140.602 Hakim's Syndrome|Hakims Syndrome|Hakim's Syndromes|Hakim Syndrome|Hakim Syndromes|HYDNP1|Hydrocephalus, Normal-Pressure|HYDROCEPHALUS, NORMAL-PRESSURE, 1|Normal Pressure Hydrocephalus|NPH (Normal Pressure Hydrocephalus)|NPHs (Normal Pressure Hydrocephalus)|Syndrome, Hakim|Syndrome, Hakim's|Syndromes, Hakim|Syndromes, Hakim's Nervous system disease Hydrocephalus, Skeletal Anomalies, and Mental Disturbance MESH:C563413 MESH:D000013|MESH:D001523|MESH:D006849 C10.228.140.602/C563413|C16.131/C563413|F03/C563413 C10.228.140.602|C16.131|F03 Congenital abnormality|Mental disorder|Nervous system disease Hydrocephalus With Cerebellar Agenesis MESH:C564407 MESH:D006849|MESH:D040181 C10.228.140.602/C564407|C16.320.322/C564407 C10.228.140.602|C16.320.322 Genetic disease (inborn)|Nervous system disease Hydrocephalus, X-linked MESH:C536078 OMIM:307000 MESH:D006849|MESH:D040181 C10.228.140.602/C536078|C16.320.322/C536078 C10.228.140.602|C16.320.322 Aqueductal stenosis, X-linked|HSAS|HSAS1|HSAS1 Hydrocephalus due to congenital stenosis of aqueduct of sylvius 1|HYCX|HYDROCEPHALUS, CONGENITAL, X-LINKED|Hydrocephalus due to congenital stenosis of aqueduct of sylvius|HYDROCEPHALUS, X-LINKED|XLAS Genetic disease (inborn)|Nervous system disease Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction MESH:C564408 MESH:D006849|MESH:D007418|MESH:D040181 C06.405.469.531.492.500/C564408|C10.228.140.602/C564408|C16.320.322/C564408 C06.405.469.531.492.500|C10.228.140.602|C16.320.322 Digestive system disease|Genetic disease (inborn)|Nervous system disease Hydrocolpos MESH:D052202 A fluid-filled VAGINA that is obstructed. MESH:D014623 C12.050.351.500.894.500|C12.100.250.894.500 C12.050.351.500.894|C12.100.250.894 Urogenital disease (female) Hydrolethalus syndrome MESH:C536079 DO:DOID:0050779 MESH:D006228|MESH:D006330|MESH:D006849 C05.390.408/C536079|C05.660.585.988.425/C536079|C10.228.140.602/C536079|C14.240.400/C536079|C14.280.400/C536079|C16.131.240.400/C536079|C16.131.621.585.988.500/C536079 C05.390.408|C05.660.585.988.425|C10.228.140.602|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.585.988.500 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease Hydrolethalus Syndrome 1 MESH:C565504 DO:DOID:0111355|OMIM:236680|OMIM:614120 MESH:D006849|MESH:D017689 C05.660.585.600/C565504|C10.228.140.602/C565504|C16.131.621.585.600/C565504 C05.660.585.600|C10.228.140.602|C16.131.621.585.600 HLS1|HLS2|HYDROLETHALUS SYNDROME 2 Congenital abnormality|Musculoskeletal disease|Nervous system disease Hydronephrosis MESH:D006869 DO:DOID:11111 Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER. MESH:D007674 C12.050.351.968.419.307|C12.200.777.419.307|C12.950.419.307 C12.050.351.968.419|C12.200.777.419|C12.950.419 Hydronephroses Urogenital disease (female)|Urogenital disease (male) Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation MESH:C565736 MESH:D002972|MESH:D006869|MESH:D008607|MESH:D009123|MESH:D019066 C05.500.460.185/C565736|C05.660.207.540.460.185/C565736|C07.320.440.185/C565736|C07.465.525.185/C565736|C07.650.500.460.185/C565736|C07.650.525.185/C565736|C10.597.606.360/C565736|C10.597.613.575/C565736|C12.050.351.968.419.307/C565736|C12.200.777.419.307/C565736|C12.950.419.307/C565736|C16.131.621.207.540.460.185/C565736|C16.131.850.500.460.185/C565736|C16.131.850.525.185/C565736|C23.550.291.812/C565736|C23.888.592.604.646/C565736|C23.888.592.608.575/C565736|F03.625.539/C565736 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.597.606.360|C10.597.613.575|C12.050.351.968.419.307|C12.200.777.419.307|C12.950.419.307|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C23.550.291.812|C23.888.592.604.646|C23.888.592.608.575|F03.625.539 Okamoto Syndrome Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Hydrophthalmos MESH:D006871 DO:DOID:11212 Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical. MESH:D005124|MESH:D005902|MESH:D007232 C11.250.480|C11.525.381.407.480|C16.131.384.480|C16.614.438 C11.250|C11.525.381.407|C16.131.384|C16.614 Buphthalmos Congenital abnormality|Eye disease|Infant-newborn disease Hydropneumothorax MESH:D006872 A collection of fluid and gas within the pleural cavity. (Dorland, 27th ed) MESH:D010995 C08.528.434 C08.528 Respiratory tract disease Hydrops Fetalis MESH:D015160 OMIM:236750 Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS. MESH:D004487|MESH:D004899|MESH:D017085 C12.050.703.277.060.480|C15.378.295.480|C15.378.420.826.100.350|C16.300.060.480|C16.320.365.826.100.350|C20.306.480|C23.888.277.395 C12.050.703.277.060|C15.378.295|C15.378.420.826.100|C16.300.060|C16.320.365.826.100|C20.306|C23.888.277 Edema, Fetal|Familial Non Immune Hydrops Fetalis|Familial Non-Immune Hydrops Fetalis|Fetal Edema|Fetal Hydrops|Fetali, Idiopathic Hydrops|Fetalis, Idiopathic Hydrops|Fetalis Nonimmune, Hydrops|Fetalis Nonimmunes, Hydrops|Hydrops, Fetal|Hydrops Fetali, Idiopathic|Hydrops Fetali, Nonimmune|Hydrops Fetalis, Idiopathic|Hydrops Fetalis, Immune|Hydrops Fetalis Nonimmune|Hydrops Fetalis, Nonimmune|Hydrops Fetalis, Non-Immune|Hydrops Fetalis Nonimmunes|Idiopathic Hydrops Fetali|Idiopathic Hydrops Fetalis|Immune Hydrops Fetalis|NIHF|Nonimmune Hydrops Fetali|Nonimmune Hydrops Fetalis|Nonimmune, Hydrops Fetalis|Non-Immune Hydrops Fetalis|Nonimmunes, Hydrops Fetalis Blood disease|Fetal disease|Genetic disease (inborn)|Immune system disease|Pregnancy complication|Signs and symptoms Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features MESH:C567731 MESH:D000015|MESH:D015160|MESH:D019066 C12.050.703.277.060.480/C567731|C15.378.295.480/C567731|C15.378.420.826.100.350/C567731|C16.131.077/C567731|C16.300.060.480/C567731|C16.320.365.826.100.350/C567731|C20.306.480/C567731|C23.550.291.812/C567731|C23.888.277.395/C567731 C12.050.703.277.060.480|C15.378.295.480|C15.378.420.826.100.350|C16.131.077|C16.300.060.480|C16.320.365.826.100.350|C20.306.480|C23.550.291.812|C23.888.277.395 Blood disease|Congenital abnormality|Fetal disease|Genetic disease (inborn)|Immune system disease|Pathology (process)|Pregnancy complication|Signs and symptoms HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA OMIM:617021 MESH:C538134|MESH:D000756|MESH:D015160 C12.050.703.277.060.480/617021|C15.378.071.419/617021|C15.378.190.625.070/617021|C15.378.295.480/617021|C15.378.420.826.100.350/617021|C16.300.060.480/617021|C16.320.365.826.100.350/617021|C18.452.076.176.180/C538134/617021|C20.306.480/617021|C23.888.277.395/617021 C12.050.703.277.060.480|C15.378.071.419|C15.378.190.625.070|C15.378.295.480|C15.378.420.826.100.350|C16.300.060.480|C16.320.365.826.100.350|C18.452.076.176.180/C538134|C20.306.480|C23.888.277.395 HLASA Blood disease|Fetal disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Pregnancy complication|Signs and symptoms Hydrothorax MESH:D006876 A collection of watery fluid in the pleural cavity. (Dorland, 27th ed) MESH:D010995 C08.528.476 C08.528 Respiratory tract disease Hydroxykynureninuria MESH:C536081 DO:DOID:0112257|OMIM:236800 MESH:D000592 C16.320.565.100/C536081|C18.452.648.100/C536081 C16.320.565.100|C18.452.648.100 Kynureninase deficiency|KYNURENINASE DEFICIENCY, PARTIAL|Xanthurenic aciduria Genetic disease (inborn)|Metabolic disease Hydroxylysinuria MESH:C565502 MESH:D004831|MESH:D008607 C10.228.140.490.375.130/C565502|C10.228.140.490.493.063/C565502|C10.597.606.360/C565502|C23.888.592.604.646/C565502|F03.625.539/C565502 C10.228.140.490.375.130|C10.228.140.490.493.063|C10.597.606.360|C23.888.592.604.646|F03.625.539 Mental disorder|Nervous system disease|Signs and symptoms Hydroxyprolinemia MESH:C562669 MESH:D000592 C16.320.565.100/C562669|C18.452.648.100/C562669 C16.320.565.100|C18.452.648.100 4-Hydroxy-L-Proline Oxidase Deficiency Genetic disease (inborn)|Metabolic disease Hymen, Imperforate MESH:C562397 MESH:D000013 C16.131/C562397 C16.131 Congenital abnormality Hymenolepiasis MESH:D006925 DO:DOID:10074 Infection with tapeworms of the genus Hymenolepis. MESH:D002590 C01.610.335.190.519 C01.610.335.190 Hymenolepiases|Hymenolepis Infection|Hymenolepis Infections|Infection, Hymenolepis|Infections, Hymenolepis Parasitic disease Hyperacusis MESH:D012001 An abnormally disproportionate increase in the sensation of loudness in response to auditory stimuli of normal volume. COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; FACIAL NERVE DISEASES; STAPES SURGERY; and other disorders may be associated with this condition. MESH:D006311 C09.218.458.505|C10.597.751.418.505|C23.888.592.763.393.505 C09.218.458|C10.597.751.418|C23.888.592.763.393 Auditory Hyperesthesia|Auditory Hyperesthesias|Disturbance, Loudness Perception|Disturbances, Loudness Perception|Hyperacuses|Hyperacusia|Hyperacusias|Hyperesthesia, Auditory|Hyperesthesias, Auditory|Loudness Perception Disturbance|Loudness Perception Disturbances|Loudness Recruitment|Loudness Recruitments|Perception Disturbance, Loudness|Perception Disturbances, Loudness|Phonophobia|Phonophobias|Recruitment, Loudness Ear-nose-throat disease|Nervous system disease|Signs and symptoms Hyperaldosteronism MESH:D006929 DO:DOID:12028|DO:DOID:446 A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA. MESH:D000308 C19.053.800.604 C19.053.800 Aldosteronism|Conn's Syndrome|Conns Syndrome|Conn Syndrome|Hyperaldosteronism, Primary|Primary Hyperaldosteronism|Syndrome, Conn|Syndrome, Conn's Endocrine system disease Hyperaldosteronism, Familial, Type II MESH:C565312 OMIM:605635 MESH:D006929 C19.053.800.604/C565312 C19.053.800.604 FH II|HALD2 Endocrine system disease HYPERALDOSTERONISM, FAMILIAL, TYPE III OMIM:613677 DO:DOID:446 MESH:D006929 C19.053.800.604/613677 C19.053.800.604 FH III|HALD3 Endocrine system disease HYPERALDOSTERONISM, FAMILIAL, TYPE IV OMIM:617027 MESH:D006929 C19.053.800.604/617027 C19.053.800.604 ALDOSTERONISM, PRIMARY, AND HYPERTENSION|FH IV|HALD4 Endocrine system disease Hyperalgesia MESH:D006930 An increased sensation of pain or discomfort produced by minimally noxious stimuli due to damage to soft tissue containing NOCICEPTORS or injury to a peripheral nerve. MESH:D020886 C10.597.751.791.400|C23.888.592.763.770.400 C10.597.751.791|C23.888.592.763.770 Allodynia|Allodynia, Mechanical|Allodynias|Allodynia, Tactile|Allodynia, Thermal|Hyperalgesia, Mechanical|Hyperalgesia, Primary|Hyperalgesias|Hyperalgesia, Secondary|Hyperalgesias, Thermal|Hyperalgesia, Tactile|Hyperalgesia, Thermal|Hyperalgesic Sensation|Hyperalgesic Sensations|Hyperalgia|Hyperalgia, Mechanical|Hyperalgia, Primary|Hyperalgia, Secondary|Mechanical Allodynia|Mechanical Hyperalgesia|Mechanical Hyperalgia|Mechanical Hyperalgias|Primary Hyperalgia|Primary Hyperalgias|Secondary Hyperalgia|Secondary Hyperalgias|Sensation, Hyperalgesic|Sensations, Hyperalgesic|Tactile Allodynia|Thermal Allodynia|Thermal Hyperalgesia Nervous system disease|Signs and symptoms HYPERALPHALIPOPROTEINEMIA 1 OMIM:143470 DO:DOID:0111369 MESH:D006951 C18.452.584.500.500.644/143470 C18.452.584.500.500.644 CETP DEFICIENCY HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10, INCLUDED|CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY|HALP1|HDLCQ10, INCLUDED Metabolic disease Hyperammonemia MESH:D022124 Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA. MESH:D010335 C23.550.421 C23.550 Pathology (process) Hyperamylasemia MESH:D034321 A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes. MESH:D010335 C23.550.425 C23.550 Macroamylasemia Pathology (process) Hyperandrogenism MESH:D017588 DO:DOID:11613 A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION. MESH:D047808|MESH:D058489 C12.050.351.875.253.064.500|C12.050.351.875.253.090.750|C12.200.706.316.064.500|C12.200.706.316.090.750|C12.800.316.064.500|C12.800.316.090.750|C16.131.939.316.064.500|C16.131.939.316.129.750|C19.391.119.064.500|C19.391.119.090.750 C12.050.351.875.253.064|C12.050.351.875.253.090|C12.200.706.316.064|C12.200.706.316.090|C12.800.316.064|C12.800.316.090|C16.131.939.316.064|C16.131.939.316.129|C19.391.119.064|C19.391.119.090 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency MESH:C565977 MESH:D017588 C12.050.351.875.253.064.500/C565977|C12.050.351.875.253.090.750/C565977|C12.200.706.316.064.500/C565977|C12.200.706.316.090.750/C565977|C12.800.316.064.500/C565977|C12.800.316.090.750/C565977|C16.131.939.316.064.500/C565977|C16.131.939.316.129.750/C565977|C19.391.119.064.500/C565977|C19.391.119.090.750/C565977 C12.050.351.875.253.064.500|C12.050.351.875.253.090.750|C12.200.706.316.064.500|C12.200.706.316.090.750|C12.800.316.064.500|C12.800.316.090.750|C16.131.939.316.064.500|C16.131.939.316.129.750|C19.391.119.064.500|C19.391.119.090.750 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Hyperargininemia MESH:D020162 DO:DOID:9278|OMIM:207800 A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51) MESH:D056806 C10.228.140.163.100.937.500|C16.320.565.100.940.500|C16.320.565.189.937.500|C18.452.132.100.937.437|C18.452.648.100.940.437|C18.452.648.189.937.437 C10.228.140.163.100.937|C16.320.565.100.940|C16.320.565.189.937|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937 ARG1 Deficiencies|ARG1 Deficiency|Arginase Deficiencies|Arginase Deficiency|Arginase Deficiency Disease|Arginase Deficiency Diseases|Argininemia|Deficiencies, ARG1|Deficiencies, Arginase|Deficiency, ARG1|Deficiency, Arginase|Deficiency Disease, Arginase|Deficiency Diseases, Arginase|HYPERARGININEMIA|Hyperargininemias Genetic disease (inborn)|Metabolic disease|Nervous system disease Hyper-Beta-Alaninemia MESH:C562684 MESH:D006970|MESH:D012640 C10.597.742/C562684|C10.886.425.800.200/C562684|C23.888.592.742/C562684|F03.870.400.800.200/C562684 C10.597.742|C10.886.425.800.200|C23.888.592.742|F03.870.400.800.200 Hyperalaninemia Mental disorder|Nervous system disease|Signs and symptoms Hyperbilirubinemia MESH:D006932 DO:DOID:2741 A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine. MESH:D010335 C23.550.429 C23.550 Bilirubinemia|Bilirubinemias|Hyperbilirubinemias Pathology (process) Hyperbilirubinemia, Conjugated, Type III MESH:C562885 MESH:D006933 C16.320.565.300/C562885|C18.452.648.300/C562885 C16.320.565.300|C18.452.648.300 Genetic disease (inborn)|Metabolic disease Hyperbilirubinemia, Hereditary MESH:D006933 DO:DOID:2741 Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood. MESH:D008661 C16.320.565.300|C18.452.648.300 C16.320.565|C18.452.648 Hereditary Hyperbilirubinemia|Hereditary Hyperbilirubinemias|Hyperbilirubinemia, Rotor Type|Hyperbilirubinemias, Hereditary|Rotor Syndrome|Rotor Type Hyperbilirubinemia|Syndrome, Rotor Genetic disease (inborn)|Metabolic disease Hyperbilirubinemia, Neonatal MESH:D051556 Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin. MESH:D006932|MESH:D007232 C16.614.451|C23.550.429.249 C16.614|C23.550.429 Direct Hyperbilirubinemia, Neonatal|During Infancies, Hyperbilirubinemia|Hyperbilirubinemia During Infancy|Hyperbilirubinemia, Neonatal Direct|Hyperbilirubinemia, Neonatal Indirect|Indirect Hyperbilirubinemia, Neonatal|Infancy, Hyperbilirubinemia During|Neonatal Direct Hyperbilirubinemia|Neonatal Hyperbilirubinemia|Neonatal Indirect Hyperbilirubinemia Infant-newborn disease|Pathology (process) HYPERBILIRUBINEMIA, ROTOR TYPE OMIM:237450 MESH:D006932 C23.550.429/237450 C23.550.429 HBLRR|ROTOR SYNDROME Pathology (process) Hyperbilirubinemia, Shunt MESH:C562451 MESH:D006933 C16.320.565.300/C562451|C18.452.648.300/C562451 C16.320.565.300|C18.452.648.300 Genetic disease (inborn)|Metabolic disease Hyperbilirubinemia, Transient Familial Neonatal MESH:C562692 OMIM:237900 MESH:D006933|MESH:D051556 C16.320.565.300/C562692|C16.614.451/C562692|C18.452.648.300/C562692|C23.550.429.249/C562692 C16.320.565.300|C16.614.451|C18.452.648.300|C23.550.429.249 HBLRTFN|LUCEY-DRISCOLL SYNDROME BREAST MILK JAUNDICE, INCLUDED Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Pathology (process) HYPERBILIVERDINEMIA OMIM:614156 MESH:D007565 C23.550.429.500/614156|C23.888.885.375/614156 C23.550.429.500|C23.888.885.375 GREEN JAUNDICE|HBLVD Pathology (process)|Signs and symptoms Hypercalcemia MESH:D006934 DO:DOID:12678 Abnormally high level of calcium in the blood. MESH:D002128|MESH:D014883 C18.452.174.451|C18.452.950.340 C18.452.174|C18.452.950 Hypercalcemias|Milk Alkali Syndrome|Milk-Alkali Syndrome|Syndrome, Milk-Alkali Metabolic disease Hypercalcemia, Idiopathic, of Infancy MESH:C562581 MESH:D006934|MESH:D007232|MESH:D008661 C16.320.565/C562581|C16.614/C562581|C18.452.174.451/C562581|C18.452.648/C562581|C18.452.950.340/C562581 C16.320.565|C16.614|C18.452.174.451|C18.452.648|C18.452.950.340 Genetic disease (inborn)|Infant-newborn disease|Metabolic disease Hypercalcemia, Infantile MESH:C562999 OMIM:143880|OMIM:616963 MESH:D006934 C18.452.174.451/C562999|C18.452.950.340/C562999 C18.452.174.451|C18.452.950.340 HCINF1|HCINF2|HYPERCALCEMIA, IDIOPATHIC, OF INFANCY|Hypercalcemia, Infantile, 1|Hypercalcemia, infantile, 2 Metabolic disease Hypercalciuria MESH:D053565 Excretion of abnormally high level of CALCIUM in the URINE, greater than 4 mg/kg/day. MESH:D020924 C23.888.942.337 C23.888.942 Signs and symptoms Hypercalciuria, Absorptive, 1 MESH:C564600 OMIM:607258 MESH:D053565 C23.888.942.337/C564600 C23.888.942.337 HCA1 Signs and symptoms Hypercalciuria, Absorptive, 2 MESH:C562790 OMIM:143870 MESH:D053565 C23.888.942.337/C562790 C23.888.942.337 HCA2|Hypercalciuria, Familial Idiopathic Signs and symptoms Hypercalciuria, childhood idiopathic MESH:C536082 MESH:D053565 C23.888.942.337/C536082 C23.888.942.337 Childhood idiopathic hypercalciuria Signs and symptoms Hypercalciuric Hypercalcemia MESH:C563373 MESH:D006934 C18.452.174.451/C563373|C18.452.950.340/C563373 C18.452.174.451|C18.452.950.340 Metabolic disease Hypercalciuric Hypocalcemia, Familial MESH:C562783 MESH:D006996|MESH:D007011|MESH:D053565 C18.452.174.509/C562783|C18.452.950.509/C562783|C19.642.482/C562783|C23.888.942.337/C562783 C18.452.174.509|C18.452.950.509|C19.642.482|C23.888.942.337 Hypocalcemia, Autosomal Dominant|Hypocalcemia, Familial|Hypoparathyroidism, Autosomal Dominant Endocrine system disease|Metabolic disease|Signs and symptoms Hypercapnia MESH:D006935 A clinical manifestation of abnormal increase in the amount of carbon dioxide in arterial blood. MESH:D012818 C23.888.852.544 C23.888.852 Signs and symptoms Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant MESH:C567296 OMIM:115300 MESH:D014802 C18.654.521.500.133.628/C567296 C18.654.521.500.133.628 CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1, INCLUDED|HCVAD Nutrition disorder Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive MESH:C567486 MESH:D014802 C18.654.521.500.133.628/C567486 C18.654.521.500.133.628 Nutrition disorder Hypercementosis MESH:D006936 DO:DOID:12733 A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed) MESH:D014076 C07.793.422 C07.793 Hypercementoses Mouth disease HYPERCHLORHIDROSIS, ISOLATED OMIM:143860 DO:DOID:0111371 MESH:D006945|MESH:D008661 C16.320.565/143860|C17.800.946.350/143860|C18.452.648/143860 C16.320.565|C17.800.946.350|C18.452.648 HYCHL Genetic disease (inborn)|Metabolic disease|Skin disease Hypercholanemia, Familial MESH:C564336 OMIM:607748 MESH:D043202 C16.320.565.925/C564336|C18.452.648.925/C564336 C16.320.565.925|C18.452.648.925 BILE ACID, ELEVATED SERUM|FHCA1|HYPERCHOLANEMIA, FAMILIAL 1 Genetic disease (inborn)|Metabolic disease Hypercholesterolemia MESH:D006937 A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population. MESH:D006949 C18.452.584.500.500.396 C18.452.584.500.500 Cholesterol, Elevated|Cholesterol Level, High|Cholesterol Levels, High|Cholesterols, Elevated|Elevated Cholesterol|Elevated Cholesterols|High Cholesterol Level|High Cholesterol Levels|Hypercholesteremia|Hypercholesteremias|Hypercholesterolemias|Level, High Cholesterol|Levels, High Cholesterol Metabolic disease Hypercholesterolemia, Autosomal Dominant, 3 MESH:C566337 OMIM:603776 MESH:D006951 C18.452.584.500.500.644/C566337 C18.452.584.500.500.644 FH3|FH3 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED|FHCL3|HCHOLA3|HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3|HYPERCHOLESTEROLEMIA, FAMILIAL, 3|LDLCQ1, INCLUDED Metabolic disease Hypercholesterolemia, Autosomal Recessive MESH:C566331 OMIM:603813 MESH:D006937 C18.452.584.500.500.396/C566331 C18.452.584.500.500.396 ARH|ARH1, FORMERLY|ARH2, FORMERLY|FHCB1, FORMERLY|FHCB2, FORMERLY|FHCL4|HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE|HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY|HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY|HYPERCHOLESTEROLEMIA, FAMILIAL, 4 Metabolic disease Hypercholesterolemia due to arg3500 mutation of Apo B-100 MESH:C536083 MESH:D006938 C16.320.565.398.481/C536083|C18.452.584.500.500.644.475/C536083|C18.452.584.563.481/C536083|C18.452.648.398.481/C536083 C16.320.565.398.481|C18.452.584.500.500.644.475|C18.452.584.563.481|C18.452.648.398.481 Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B Genetic disease (inborn)|Metabolic disease HYPERCHOLESTEROLEMIA, FAMILIAL, 1 OMIM:143890 DO:DOID:13810 MESH:D006937|MESH:D006938 C16.320.565.398.481/143890|C18.452.584.500.500.396/143890|C18.452.584.500.500.644.475/143890|C18.452.584.563.481/143890|C18.452.648.398.481/143890 C16.320.565.398.481|C18.452.584.500.500.396|C18.452.584.500.500.644.475|C18.452.584.563.481|C18.452.648.398.481 FH|FHC|FHCL1|HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL|HYPERLIPOPROTEINEMIA, TYPE II|HYPERLIPOPROTEINEMIA, TYPE IIA|HYPER-LOW-DENSITY-LIPOPROTEINEMIA|LDLCQ2, INCLUDED|LDL RECEPTOR DISORDER LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2, INCLUDED Genetic disease (inborn)|Metabolic disease Hyperekplexia MESH:D000071017 DO:DOID:0060695|DO:DOID:0060696 A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA. MESH:D002493 C10.228.590 C10.228 Hyperekplexias Nervous system disease Hyperekplexia and Epilepsy MESH:C564474 OMIM:300607 MESH:D004827|MESH:D012021|MESH:D040181 C10.228.140.490/C564474|C10.597.704/C564474|C16.320.322/C564474|C23.888.592.717/C564474 C10.228.140.490|C10.597.704|C16.320.322|C23.888.592.717 DEE8|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8|EIEE8|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8|HYPEREKPLEXIA AND EPILEPSY Genetic disease (inborn)|Nervous system disease|Signs and symptoms Hyperemesis Gravidarum MESH:D006939 Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS. MESH:D048968 C12.050.703.407.500|C23.888.821.937.049.500 C12.050.703.407|C23.888.821.937.049 Pernicious Vomiting of Pregnancy|Pregnancy Pernicious Vomiting Pregnancy complication|Signs and symptoms Hyperemia MESH:D006940 The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous). MESH:D014652 C14.907.474 C14.907 Active Hyperemia|Arterial Hyperemia|Congestion, Venous|Engorgement, Venous|Hyperemia, Active|Hyperemia, Arterial|Hyperemia, Passive|Hyperemia, Reactive|Hyperemias|Hyperemias, Reactive|Passive Hyperemia|Reactive Hyperemia|Reactive Hyperemias|Venous Congestion|Venous Engorgement Cardiovascular disease Hypereosinophilic Syndrome MESH:D017681 OMIM:607685 A heterogeneous group of disorders with the common feature of prolonged eosinophilia of unknown cause and associated organ system dysfunction, including the heart, central nervous system, kidneys, lungs, gastrointestinal tract, and skin. There is a massive increase in the number of EOSINOPHILS in the blood, mimicking leukemia, and extensive eosinophilic infiltration of the various organs. MESH:D004802 C15.378.553.231.549 C15.378.553.231 Endocarditis, Loeffler|Endocarditis, Loeffler's|Endocarditis, Loefflers|Eosinophilic Leukemia|Eosinophilic Leukemias|HES|Hypereosinophilic Syndrome, Idiopathic|Hypereosinophilic Syndromes|Hypereosinophilic Syndromes, Idiopathic|Idiopathic Hypereosinophilic Syndrome|Idiopathic Hypereosinophilic Syndromes|Leukemia, Eosinophilic|Leukemias, Eosinophilic|Loeffler Endocarditis|Loeffler's Endocarditis|Loefflers Endocarditis|Syndrome, Hypereosinophilic|Syndrome, Idiopathic Hypereosinophilic|Syndromes, Hypereosinophilic|Syndromes, Idiopathic Hypereosinophilic Blood disease Hyperesthesia MESH:D006941 Increased sensitivity to cutaneous stimulation due to a diminished threshold or an increased response to stimuli. MESH:D020886 C10.597.751.791.450|C23.888.592.763.770.450 C10.597.751.791|C23.888.592.763.770 Hyperesthesias|Hyperesthesias, Tactile|Hyperesthesias, Thermal|Hyperesthesia, Tactile|Hyperesthesia, Thermal|Hyperesthetic Sensation|Hyperesthetic Sensations|Oxyesthesia|Oxyesthesias|Sensation, Hyperesthetic|Sensations, Hyperesthetic|Tactile Hyperesthesia|Tactile Hyperesthesias|Thermal Hyperesthesia|Thermal Hyperesthesias Nervous system disease|Signs and symptoms Hyperexplexia hereditary MESH:C538136 OMIM:149400|OMIM:614618|OMIM:614619 MESH:D009127 C05.651.504/C538136|C10.597.613.550.500/C538136|C23.888.592.608.550.500/C538136 C05.651.504|C10.597.613.550.500|C23.888.592.608.550.500 Congenital stiff person syndrome|Exagerrated startle reflex|EXAGGERATED STARTLE REACTION|Familial startle disease|HKPX1|HKPX2|HKPX3|HYPEREKPLEXIA 1|HYPEREKPLEXIA 2|HYPEREKPLEXIA 3|Kok disease|STARTLE DISEASE, FAMILIAL|STARTLE REACTION, EXAGGERATED|STHE|Stiff baby syndrome|STIFF-BABY SYNDROME|STIFF-MAN SYNDROME, CONGENITAL|STIFF-PERSON SYNDROME, CONGENITAL Musculoskeletal disease|Nervous system disease|Signs and symptoms Hyperferritinemia MESH:D000085583 A finding of elevated serum level of FERRITIN. It is often associated with IRON OVERLOAD, repeated blood transfusions, malignancy, iron metabolic syndromes, virus infection, liver injury or dysfunction, and renal failure. Hyperferritinemia in iron metabolic syndromes (e.g., Still's diseases, and HEMOPHAGOCYTIC SYNDROME) is referred to as dysmetabolic hyperferritinemia. MESH:D019189 C18.452.565.300 C18.452.565 Dysmetabolic Hyperferritinemia|Elevated Serum Ferritin|Hyperferritinemia, Dysmetabolic|Hyperferritinemias|Raised Serum Ferritin|Serum Ferritin, Elevated|Serum Ferritin, Raised|Ultrahyperferritinemia|Ultrahyperferritinemias Metabolic disease Hyperferritinemia, hereditary, with congenital cataracts MESH:C538137 DO:DOID:0111256|OMIM:600886 MESH:D002386|MESH:D019189 C11.510.245/C538137|C18.452.565/C538137 C11.510.245|C18.452.565 Bonneau-Beaumont Syndrome|Dominant hyperferritinemia and cataract|Hereditary hyperferritinemia-cataract syndrome|Hereditary Hyperferritinemia with Congenital Cataracts|HHCS|HRFTC|Hyperferritinemia cataract syndrome|Hyperferritinemia-Cataract Syndrome|HYPERFERRITINEMIA, HEREDITARY, WITH CONGENITAL CATARACTS|HYPERFERRITINEMIA WITH OR WITHOUT CATARACT Eye disease|Metabolic disease Hypergammaglobulinemia MESH:D006942 An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS. MESH:D001796|MESH:D007160|MESH:D012816 C15.378.147.542|C20.683.460|C23.888.512 C15.378.147|C20.683|C23.888 Hypergammaglobulinemias|Hyperimmunoglobulinemia|Hyperimmunoglobulinemias Blood disease|Immune system disease|Signs and symptoms Hyperglycemia MESH:D006943 DO:DOID:4195 Abnormally high BLOOD GLUCOSE level. MESH:D044882 C18.452.394.952 C18.452.394 Hyperglycemia, Postprandial|Hyperglycemias|Hyperglycemias, Postprandial|Postprandial Hyperglycemia|Postprandial Hyperglycemias Metabolic disease Hyperglycemic Hyperosmolar Nonketotic Coma MESH:D006944 A serious complication of TYPE 2 DIABETES MELLITUS. It is characterized by extreme HYPERGLYCEMIA; DEHYDRATION; serum hyperosmolarity; and depressed consciousness leading to COMA in the absence of KETOSIS and ACIDOSIS. MESH:D003926 C19.246.099.750.490 C19.246.099.750 Coma, Hyperglycemic Hyperosmolar Nonketotic|Coma, Hyperosmolar Nonketotic|Coma, Nonketotic Hyperglycemic|Coma, Nonketotic Hyperosmolar|Comas, Hyperosmolar Nonketotic|Comas, Nonketotic Hyperosmolar|Hyperglycemic Coma, Nonketotic|Hyperglycemic State, Hyperosmolar|Hyperglycemic States, Hyperosmolar|Hyperglycemic Syndrome, Hyperosmolar|Hyperglycemic Syndromes, Hyperosmolar|Hyperosmolar Coma, Nonketotic|Hyperosmolar Comas, Nonketotic|Hyperosmolar Hyperglycemic Nonketotic Coma|Hyperosmolar Hyperglycemic State|Hyperosmolar Hyperglycemic States|Hyperosmolar Hyperglycemic Syndrome|Hyperosmolar Hyperglycemic Syndromes|Hyperosmolar Nonketotic Coma|Hyperosmolar Nonketotic Comas|Nonketotic Coma, Hyperosmolar|Nonketotic Comas, Hyperosmolar|Nonketotic Hyperglycemic Coma|Nonketotic Hyperosmolar Coma|Nonketotic Hyperosmolar Comas|Syndrome, Hyperosmolar Hyperglycemic|Syndromes, Hyperosmolar Hyperglycemic Endocrine system disease Hyperglycerolemia MESH:C000721294 MESH:D044882 C18.452.394/C000721294 C18.452.394 deficiency of glycerol kinase|gk deficiency|glycerol kinase deficiency Metabolic disease HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES OMIM:614462 MESH:D000140|MESH:D012640|MESH:D020158 C10.228.140.163.100.375/614462|C10.597.742/614462|C16.320.565.100.477/614462|C16.320.565.189.375/614462|C18.452.076.176.180/614462|C18.452.132.100.375/614462|C18.452.648.100.477/614462|C18.452.648.189.375/614462|C23.888.592.742/614462 C10.228.140.163.100.375|C10.597.742|C16.320.565.100.477|C16.320.565.189.375|C18.452.076.176.180|C18.452.132.100.375|C18.452.648.100.477|C18.452.648.189.375|C23.888.592.742 HGCLAS|PDHLD|PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Hyperglycinemia, Nonketotic MESH:D020158 DO:DOID:9268|OMIM:605899 An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system. MESH:D000592|MESH:D020739 C10.228.140.163.100.375|C16.320.565.100.477|C16.320.565.189.375|C18.452.132.100.375|C18.452.648.100.477|C18.452.648.189.375 C10.228.140.163.100|C16.320.565.100|C16.320.565.189|C18.452.132.100|C18.452.648.100|C18.452.648.189 Encephalopathies, Glycine|Encephalopathy, Glycine|GCE|GCE1|Glycine Encephalopathies|Glycine Encephalopathy|GLYCINE ENCEPHALOPATHY 1|Hyperglycinemia, Non-ketotic|HYPERGLYCINEMIA, NONKETOTIC;NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED|Hyperglycinemia, Nonketotic, Type I|Hyperglycinemia, Nonketotic, Type II|Hyperglycinemia, Nonketotic, Type III|Hyperglycinemias, Non-ketotic|Hyperglycinemias, Nonketotic|Non ketotic Hyperglycinemia|Non-ketotic Hyperglycinemia|Nonketotic Hyperglycinemia|Non-ketotic Hyperglycinemias|Nonketotic Hyperglycinemias|Nonketotic Hyperglycinemia, Type I|Nonketotic Hyperglycinemia, Type II|Nonketotic Hyperglycinemia, Type III|TNH, INCLUDED|Type III Nonketotic Hyperglycinemia|Type II Nonketotic Hyperglycinemia|Type I Nonketotic Hyperglycinemia Genetic disease (inborn)|Metabolic disease|Nervous system disease Hyperglycinemia, Transient Neonatal MESH:C562672 MESH:D007232|MESH:D020158 C10.228.140.163.100.375/C562672|C16.320.565.100.477/C562672|C16.320.565.189.375/C562672|C16.614/C562672|C18.452.132.100.375/C562672|C18.452.648.100.477/C562672|C18.452.648.189.375/C562672 C10.228.140.163.100.375|C16.320.565.100.477|C16.320.565.189.375|C16.614|C18.452.132.100.375|C18.452.648.100.477|C18.452.648.189.375 Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Nervous system disease HYPERGLYCINURIA OMIM:138500 MESH:D000592 C16.320.565.100/138500|C18.452.648.100/138500 C16.320.565.100|C18.452.648.100 GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS|GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS|IMINOGLYCINURIA TYPE II Genetic disease (inborn)|Metabolic disease Hypergonadotropic Hypogonadism And Partial Alopecia MESH:C567109 MESH:D000505|MESH:D007006 C17.800.329.937.122/C567109|C19.391.482/C567109|C23.300.035/C567109 C17.800.329.937.122|C19.391.482|C23.300.035 Endocrine system disease|Pathology (anatomical condition)|Skin disease Hyperheparinemia MESH:C562723 MESH:D001778 C15.378.100/C562723 C15.378.100 Blood disease Hyperhidrosis MESH:D006945 Excessive sweating. In the localized type, the most frequent sites are the palms, soles, axillae, inguinal folds, and the perineal area. Its chief cause is thought to be emotional. Generalized hyperhidrosis may be induced by a hot, humid environment, by fever, or by vigorous exercise. MESH:D013543 C17.800.946.350 C17.800.946 Hyperidrosis Skin disease Hyperhidrosis Palmaris Et Plantaris MESH:C563185 MESH:D006945 C17.800.946.350/C563185 C17.800.946.350 Skin disease Hyperhomocysteinemia MESH:D020138 DO:DOID:9279 Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 μmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy. MESH:D000592|MESH:D008286|MESH:D014804 C16.320.565.100.480|C18.452.603.378|C18.452.648.100.480|C18.654.521.500.133.699.418 C16.320.565.100|C18.452.603|C18.452.648.100|C18.654.521.500.133.699 Hyperhomocysteinemias Genetic disease (inborn)|Metabolic disease|Nutrition disorder Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant MESH:C567925 OMIM:147060 MESH:D007589 C15.378.553.774.600/C567925|C16.320.798.688/C567925|C20.673.774.600/C567925|C20.673.795.688/C567925 C15.378.553.774.600|C16.320.798.688|C20.673.774.600|C20.673.795.688 HIES1|HIES, AUTOSOMAL DOMINANT|HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT|HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS|HYPER-IgE SYNDROME, AUTOSOMAL DOMINANT|JOB SYNDROME Blood disease|Genetic disease (inborn)|Immune system disease Hyper-IgM Immunodeficiency Syndrome MESH:D053306 DO:DOID:6620|OMIM:605258|OMIM:606843|OMIM:608106 A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation. MESH:D000081207|MESH:D004406|MESH:D030342 C15.378.147.333.249|C16.320.413|C16.320.798.625|C20.673.430.250|C20.673.795.625 C15.378.147.333|C16.320|C16.320.798|C20.673.430|C20.673.795 HIGM2|HIGM2 Syndrome|HIGM2 Syndromes|HIGM3|HIGM3 Syndrome|HIGM3 Syndromes|HIGM5|HIGM5 Syndrome|HIGM5 Syndromes|Hyper IgM Immunodeficiency Syndrome|Hyper-IgM Immunodeficiency Syndromes|Hyper IgM Immunodeficiency Syndrome Type 2|Hyper IgM Immunodeficiency Syndrome, Type 2|Hyper-IgM Immunodeficiency Syndrome Type 2|Hyper-IgM Immunodeficiency Syndrome, Type 2|Hyper IgM Immunodeficiency Syndrome Type 3|Hyper IgM Immunodeficiency Syndrome, Type 3|Hyper-IgM Immunodeficiency Syndrome Type 3|Hyper-IgM Immunodeficiency Syndrome, Type 3|Hyper IgM Immunodeficiency Syndrome Type 5|Hyper IgM Immunodeficiency Syndrome, Type 5|Hyper-IgM Immunodeficiency Syndrome Type 5|Hyper-IgM Immunodeficiency Syndrome, Type 5|Hyper IgM Syndrome|Hyper-IgM Syndrome|Hyper IgM Syndrome 2|Hyper-IgM Syndrome 2|Hyper IgM Syndrome 3|Hyper-IgM Syndrome 3|Hyper IgM Syndrome 5|Hyper-IgM Syndrome 5|Hyper-IgM Syndrome 5s|Hyper-IgM Syndromes|Immunodeficiency Syndrome, Hyper-IgM|Immunodeficiency Syndromes, Hyper-IgM|Immunodeficiency with Hyper IgM Syndrome|Immunodeficiency with Hyper-IgM Syndrome|Immunodeficiency with Hyper IgM, Type 2|Immunodeficiency with Hyper-IgM, Type 2|Immunodeficiency with Hyper IgM, Type 3|Immunodeficiency with Hyper-IgM, Type 3|Immunodeficiency with Hyper IgM, Type 5|Immunodeficiency with Hyper-IgM, Type 5|Syndrome, Hyper-IgM Immunodeficiency|Syndromes, Hyper-IgM Immunodeficiency Blood disease|Genetic disease (inborn)|Immune system disease Hyper-IgM Immunodeficiency Syndrome, Type 1 MESH:D053307 OMIM:308230 An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND. MESH:D040181|MESH:D053306 C15.378.147.333.249.500|C16.320.322.237|C16.320.798.625.500|C20.673.430.250.500|C20.673.795.625.500 C15.378.147.333.249|C16.320.322|C16.320.798.625|C20.673.430.250|C20.673.795.625 HIGM|HIGM1|HIGM1 Syndrome|HIGM1 Syndromes|Hyper-IgM Immunodeficiencies, X-Linked|Hyper IgM Immunodeficiency Syndrome, Type 1|Hyper IgM Immunodeficiency, X Linked|Hyper-IgM Immunodeficiency, X-Linked|HYPER-IgM SYNDROME|Hyper IgM Syndrome 1|Hyper-IgM Syndrome 1|IHIS|IMD3|Immunodeficiencies, X-Linked Hyper-IgM|IMMUNODEFICIENCY 3|Immunodeficiency with Hyper IgM, Type 1|Immunodeficiency with Hyper-IgM, Type 1|Immunodeficiency, X-Linked Hyper-IgM|XHIM|X-Linked Hyper-IgM Immunodeficiencies|X-Linked Hyper-IgM Immunodeficiency|X Linked Hyper IgM Syndrome|X-Linked Hyper IgM Syndrome Blood disease|Genetic disease (inborn)|Immune system disease Hyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic MESH:C564542 MESH:D004476|MESH:D053307 C15.378.147.333.249.500/C564542|C16.131.077.350/C564542|C16.131.831.350/C564542|C16.320.322.237/C564542|C16.320.798.625.500/C564542|C16.320.850.250/C564542|C17.800.804.350/C564542|C17.800.827.250/C564542|C20.673.430.250.500/C564542|C20.673.795.625.500/C564542 C15.378.147.333.249.500|C16.131.077.350|C16.131.831.350|C16.320.322.237|C16.320.798.625.500|C16.320.850.250|C17.800.804.350|C17.800.827.250|C20.673.430.250.500|C20.673.795.625.500 Xhm-Ed Blood disease|Congenital abnormality|Genetic disease (inborn)|Immune system disease|Skin disease Hyperimmunoglobulin G1(A1) Syndrome MESH:C564173 OMIM:144120 MESH:D006942 C15.378.147.542/C564173|C20.683.460/C564173|C23.888.512/C564173 C15.378.147.542|C20.683.460|C23.888.512 Blood disease|Immune system disease|Signs and symptoms Hyperinsulinemic hypoglycemia, familial, 3 MESH:C538374 OMIM:602485 MESH:D006946|MESH:D007003 C18.452.394.968/C538374|C18.452.394.984/C538374 C18.452.394.968|C18.452.394.984 HHF3 Metabolic disease Hyperinsulinemic Hypoglycemia, Familial, 4 MESH:C566493 OMIM:609975 MESH:D006946|MESH:D007003 C18.452.394.968/C566493|C18.452.394.984/C566493 C18.452.394.968|C18.452.394.984 HHF4 Metabolic disease Hyperinsulinemic Hypoglycemia, Familial, 5 MESH:C566494 OMIM:609968 MESH:D006946|MESH:D007003 C18.452.394.968/C566494|C18.452.394.984/C566494 C18.452.394.968|C18.452.394.984 HHF5 Metabolic disease Hyperinsulinemic hypoglycemia, familial, 6 MESH:C538375 OMIM:606762 MESH:D006946|MESH:D007003 C18.452.394.968/C538375|C18.452.394.984/C538375 C18.452.394.968|C18.452.394.984 HHF6|Hyperinsulinism-hyperammonemia syndrome Metabolic disease Hyperinsulinemic hypoglycemia, familial, 7 MESH:C538376 DO:DOID:0070214|OMIM:610021 MESH:D006946|MESH:D007003 C18.452.394.968/C538376|C18.452.394.984/C538376 C18.452.394.968|C18.452.394.984 HHF7|Hyperinsulinemic hypoglycemia, exercise-induced Metabolic disease Hyperinsulinism MESH:D006946 DO:DOID:2018 A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS. MESH:D044882 C18.452.394.968 C18.452.394 Compensatory Hyperinsulinemia|Endogenous Hyperinsulinism|Exogenous Hyperinsulinism|Hyperinsulinemia|Hyperinsulinemia, Compensatory|Hyperinsulinism, Endogenous|Hyperinsulinism, Exogenous Metabolic disease Hyperinsulinism, autosomal recessive MESH:C538567 MESH:D046768 C06.689.150.500/C538567|C16.614.200.500/C538567|C18.452.394.968.250.500/C538567|C18.452.394.984.200.500/C538567 C06.689.150.500|C16.614.200.500|C18.452.394.968.250.500|C18.452.394.984.200.500 Digestive system disease|Infant-newborn disease|Metabolic disease Hyperkalemia MESH:D006947 Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed) MESH:D014883 C18.452.950.396 C18.452.950 Hyperkalemias|Hyperpotassemia|Hyperpotassemias Metabolic disease Hyperkeratosis, Epidermolytic MESH:D017488 DO:DOID:4603|OMIM:113800 A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder. MESH:D016113 C16.131.831.512.400.375|C16.320.850.400.375|C16.614.492.400.375|C17.800.428.333.250.375|C17.800.804.512.400.375|C17.800.827.400.375 C16.131.831.512.400|C16.320.850.400|C16.614.492.400|C17.800.428.333.250|C17.800.804.512.400|C17.800.827.400 BCIE|BIE|Bullous Congenital Ichthyosiform Erythroderma|Bullous Erythroderma Ichthyosiforme|Bullous Erythroderma Ichthyosiformes|Bullous Erythroderma Ichthyosiformis Congenita of Brocq|Bullous Ichthyosiform Erythroderma|Bullous Ichthyosiform Erythroderma Congenital|Bullous Ichthyosiform Erythrodermas|Congenital Bullous Ichthyosiform Erythroderma|Congenital Ichthyosiform Erythroderma, Bullous|EHK1|EI|Epidermolytic Hyperkeratoses|Epidermolytic Hyperkeratosis|EPIDERMOLYTIC HYPERKERATOSIS 1|Epidermolytic Ichthyosis|Erythroderma, Bullous Ichthyosiform|Erythroderma Ichthyosiforme, Bullous|Erythroderma Ichthyosiformes, Bullous|Erythrodermas, Bullous Ichthyosiform|Hyperkeratoses, Epidermolytic|Ichthyosiforme, Bullous Erythroderma|Ichthyosiform Erythroderma, Bullous|Ichthyosiform Erythroderma, Bullous Congenital|Ichthyosiform Erythrodermas, Bullous|Ichthyosiformes, Bullous Erythroderma Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Hyperkeratosis-Hyperpigmentation Syndrome MESH:C564172 MESH:D007645|MESH:D017495 C16.320.850.475/C564172|C17.800.428.435/C564172|C17.800.621.430/C564172|C17.800.827.475/C564172 C16.320.850.475|C17.800.428.435|C17.800.621.430|C17.800.827.475 Genetic disease (inborn)|Skin disease Hyperkeratosis lenticularis perstans MESH:C538377 OMIM:144150 MESH:D007642 C17.800.428/C538377 C17.800.428 Flegel disease|Flegel's disease|HLP|Hyperkeratosis lenticularis perstans of Flegel Skin disease Hyperkeratosis of the palms and soles and esophageal papillomas MESH:C538682 DO:DOID:0111708 MESH:D010212|MESH:D015776 C04.557.470.700.600/C538682|C16.320.850.475.440/C538682|C17.800.428.435.440/C538682|C17.800.827.475.440/C538682 C04.557.470.700.600|C16.320.850.475.440|C17.800.428.435.440|C17.800.827.475.440 Early onset tylosis (type B)|Familial tylosis|FNEPPK|Focal non epidermolytic palmoplantar keratoderma|Focal Nonepidermolytic Palmoplantar Keratoderma|Focal Non-Epidermolytic Palmoplantar Keratoderma|Focal Palmoplantar Keratoderma|Keratoderma, Focal Nonepidermolytic Palmoplantar|Late onset tylosis (type A)|Palmoplantar Keratoderma, Nonepidermolytic, Focal Cancer|Genetic disease (inborn)|Skin disease Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations MESH:C566153 MESH:D012868|MESH:D020785 C10.500.190/C566153|C14.240.850.875/C566153|C16.131.240.850.875/C566153|C16.131.666.190/C566153|C16.131.831/C566153|C17.800.804/C566153 C10.500.190|C14.240.850.875|C16.131.240.850.875|C16.131.666.190|C16.131.831|C17.800.804 Cardiovascular disease|Congenital abnormality|Nervous system disease|Skin disease Hyperkinesis MESH:D006948 Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders. MESH:D020820 C10.597.350.350|C23.888.592.350.350 C10.597.350|C23.888.592.350 Generalized Hyperkinesia|Generalized Hyperkinesias|Hyperactivity, Motor|Hyperkinesia|Hyperkinesia, Generalized|Hyperkinesias, Generalized|Hyperkinetic Movement|Hyperkinetic Movements|Motor Hyperactivity|Movement, Hyperkinetic|Movements, Hyperkinetic Nervous system disease|Signs and symptoms Hyperlactatemia MESH:D065906 Increase in blood LACTATE concentration often associated with SEPTIC SHOCK; LUNG INJURY; SEPSIS; and DRUG TOXICITY. When hyperlactatemia is associated with low body pH (acidosis) it is LACTIC ACIDOSIS. MESH:D008659|MESH:D012816 C18.452.479|C23.888.516 C18.452|C23.888 Hyperlactatemias Metabolic disease|Signs and symptoms Hyperleucine-Isoleucinemia MESH:C562674 MESH:D000592|MESH:D008607|MESH:D012640 C10.597.606.360/C562674|C10.597.742/C562674|C16.320.565.100/C562674|C18.452.648.100/C562674|C23.888.592.604.646/C562674|C23.888.592.742/C562674|F03.625.539/C562674 C10.597.606.360|C10.597.742|C16.320.565.100|C18.452.648.100|C23.888.592.604.646|C23.888.592.742|F03.625.539 Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Hyperlexia MESH:C565500 MESH:D007806 C10.597.606.150.500/C565500|C23.888.592.604.150.500/C565500 C10.597.606.150.500|C23.888.592.604.150.500 Compulsive Reading|Precocious Reading Nervous system disease|Signs and symptoms Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis MESH:C566263 MESH:D006949|MESH:D014973 C18.452.584.500.500/C566263|C18.452.584.750/C566263 C18.452.584.500.500|C18.452.584.750 Metabolic disease Hyperlipidemia, Combined, 1 MESH:C566535 MESH:D006950 C16.320.565.398.450/C566535|C18.452.584.500.500.438/C566535|C18.452.584.563.450/C566535|C18.452.648.398.450/C566535 C16.320.565.398.450|C18.452.584.500.500.438|C18.452.584.563.450|C18.452.648.398.450 FCHL1|Hyperlipidemia, Familial Combined, 1|HYPLIP1 Genetic disease (inborn)|Metabolic disease Hyperlipidemia, Combined, 2 MESH:C565766 MESH:D006950 C16.320.565.398.450/C565766|C18.452.584.500.500.438/C565766|C18.452.584.563.450/C565766|C18.452.648.398.450/C565766 C16.320.565.398.450|C18.452.584.500.500.438|C18.452.584.563.450|C18.452.648.398.450 FCHL2|Hyperlipidemia, Familial Combined, 2|HYPLIP2 Genetic disease (inborn)|Metabolic disease Hyperlipidemia, Familial Combined MESH:D006950 DO:DOID:13809|OMIM:144250|OMIM:602491|OMIM:604499 A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1. MESH:D006949|MESH:D008052 C16.320.565.398.450|C18.452.584.500.500.438|C18.452.584.563.450|C18.452.648.398.450 C16.320.565.398|C18.452.584.500.500|C18.452.584.563|C18.452.648.398 Combined Hyperlipidemia, Familial|Combined Hyperlipidemias, Familial|Familial Combined Hyperlipidemia|Familial Combined Hyperlipidemias|FCHL1|FCHL2|FCHL3|HYPERLIPIDEMIA, COMBINED, 1|HYPERLIPIDEMIA, COMBINED, 2|HYPERLIPIDEMIA, FAMILIAL COMBINED, 1|HYPERLIPIDEMIA, FAMILIAL COMBINED, 2|HYPERLIPIDEMIA, FAMILIAL COMBINED, 3|Hyperlipidemia, Multiple Lipoprotein Type|Hyperlipidemia, Multiple Lipoprotein-Type|Hyperlipidemias, Familial Combined|Hyperlipidemias, Multiple Lipoprotein-Type|HYPLIP1|HYPLIP2|Lipoprotein-Type Hyperlipidemia, Multiple|Lipoprotein-Type Hyperlipidemias, Multiple|Multiple Lipoprotein-Type Hyperlipidemia|Multiple Lipoprotein-Type Hyperlipidemias Genetic disease (inborn)|Metabolic disease Hyperlipidemias MESH:D006949 DO:DOID:1168 Conditions with excess LIPIDS in the blood. MESH:D050171 C18.452.584.500.500 C18.452.584.500 Hyperlipemia|Hyperlipemias|Hyperlipidemia|Lipemia|Lipemias|Lipidemia|Lipidemias Metabolic disease Hyperlipoproteinemias MESH:D006951 DO:DOID:1168 Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation. MESH:D006949 C18.452.584.500.500.644 C18.452.584.500.500 Hyperlipoproteinemia Metabolic disease Hyperlipoproteinemia Type I MESH:D008072 DO:DOID:0111418|DO:DOID:14118|OMIM:207750|OMIM:238600 An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing. MESH:D006951|MESH:D008052 C16.320.565.398.465|C18.452.584.500.500.644.237|C18.452.584.563.465|C18.452.648.398.465 C16.320.565.398|C18.452.584.500.500.644|C18.452.584.563|C18.452.648.398 Anapolipoproteinemia, C-II|Anapolipoproteinemias, C-II|APOC2 DEFICIENCY|Apolipoprotein C-II Deficiencies|Apolipoprotein C II Deficiency|Apolipoprotein C-II Deficiency|Burger Grutz Syndrome|Burger-Grutz Syndrome|Burger-Grutz Syndromes|Chylomicronemia, Familial|CHYLOMICRONEMIA, FAMILIAL HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11, INCLUDED|Chylomicronemias, Familial|C-II Anapolipoproteinemia|C-II Anapolipoproteinemias|Deficiencies, Apolipoprotein C-II|Deficiencies, Familial LPL|Deficiencies, Lipase D|Deficiencies, LIPD|Deficiencies, Lipoprotein Lipase|Deficiency, Apolipoprotein C-II|Deficiency, Familial LPL|Deficiency, Lipase D|Deficiency, LIPD|Deficiency, Lipoprotein Lipase|Essential Familial Hyperlipemia|Essential Familial Hyperlipemias|Familial Chylomicronemia|Familial Chylomicronemias|Familial Fat Induced Hypertriglyceridemia|Familial Fat-Induced Hypertriglyceridemia|Familial Fat-Induced Hypertriglyceridemias|Familial Hyperchylomicronemia|Familial Hyperchylomicronemias|Familial Hyperlipemia, Essential|Familial Hyperlipemias, Essential|Familial Hyperlipoproteinemia Type 1|Familial Lipoprotein Lipase Deficiency|Familial LPL Deficiencies|Familial LPL Deficiency|Fat-Induced Hypertriglyceridemia, Familial|Fat-Induced Hypertriglyceridemias, Familial|HDLCQ11, INCLUDED|Hyperchylomicronemia, Familial|Hyperchylomicronemias, Familial|Hyperlipemia, Essential Familial|Hyperlipemia, Idiopathic, Burger-Grutz Type|Hyperlipemias, Essential Familial|Hyperlipoproteinemias, Type I|Hyperlipoproteinemias, Type Ia|Hyperlipoproteinemias, Type Ib|Hyperlipoproteinemia, Type I|Hyperlipoproteinemia Type Ia|Hyperlipoproteinemia, Type Ia|Hyperlipoproteinemia Type Ias|Hyperlipoproteinemia Type Ib|Hyperlipoproteinemia, Type Ib|Hyperlipoproteinemia Type Ibs|Hyperlipoproteinemia Type Is|Hypertriglyceridemia, Familial Fat-Induced|Hypertriglyceridemias, Familial Fat-Induced|Lipase D Deficiencies|Lipase D Deficiency|Lipase Deficiencies, Lipoprotein|LIPD Deficiencies|LIPD Deficiency|Lipoprotein Lipase Deficiencies|Lipoprotein Lipase Deficiency|Lipoprotein Lipase Deficiency, Familial|LPL Deficiencies, Familial|LPL DEFICIENCY|LPL Deficiency, Familial|Syndrome, Burger-Grutz|Syndromes, Burger-Grutz|Type Ia Hyperlipoproteinemia|Type Ia Hyperlipoproteinemias|Type Ib Hyperlipoproteinemia|Type Ib Hyperlipoproteinemias|Type I Hyperlipoproteinemia|Type I Hyperlipoproteinemias Genetic disease (inborn)|Metabolic disease HYPERLIPOPROTEINEMIA, TYPE ID OMIM:615947 DO:DOID:0111420 MESH:D006951 C18.452.584.500.500.644/615947 C18.452.584.500.500.644 Metabolic disease Hyperlipoproteinemia Type II MESH:D006938 DO:DOID:13810|OMIM:144010 A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). MESH:D006951|MESH:D008052 C16.320.565.398.481|C18.452.584.500.500.644.475|C18.452.584.563.481|C18.452.648.398.481 C16.320.565.398|C18.452.584.500.500.644|C18.452.584.563|C18.452.648.398 Apolipoprotein B 100, Familial Defective|Apolipoprotein B-100, Familial Defective|Apolipoprotein B 100, Familial Ligand Defective|Apolipoprotein B-100, Familial Ligand-Defective|Autosomal Dominant Hypercholesterolemia|Autosomal Dominant Hypercholesterolemias|Combined Hyperlipoproteinemia, Familial|Combined Hyperlipoproteinemias, Familial|Density Lipoproteinemia, Hyper-Low|Density Lipoproteinemias, Hyper-Low|Disorder, LDL Receptor|Disorders, LDL Receptor|Dominant Hypercholesterolemia, Autosomal|Dominant Hypercholesterolemias, Autosomal|Essential Hypercholesterolemia|Essential Hypercholesterolemias|Familial Combined Hyperlipoproteinemia|Familial Combined Hyperlipoproteinemias|Familial Hypercholesterolemia|Familial Hypercholesterolemias|Familial Hypercholesterolemic Xanthomatoses|Familial Hypercholesterolemic Xanthomatosis|FHCL2|Hyperbetalipoproteinemia|Hyper beta Lipoproteinemia|Hyper-beta-Lipoproteinemia|Hyperbetalipoproteinemias|Hyper-beta-Lipoproteinemias|Hypercholesterolemia, Autosomal Dominant|Hypercholesterolemia, Autosomal Dominant, Type B|Hypercholesterolemia, Essential|Hypercholesterolemia, Familial|HYPERCHOLESTEROLEMIA, FAMILIAL, 2|HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B|Hypercholesterolemias, Autosomal Dominant|Hypercholesterolemias, Essential|Hypercholesterolemias, Familial|Hypercholesterolemic Xanthomatoses, Familial|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Familial Combined|Hyperlipoproteinemias, Familial Combined|Hyperlipoproteinemias, Type II|Hyperlipoproteinemias, Type IIa|Hyperlipoproteinemia Type 2|Hyperlipoproteinemia Type 2s|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia Type IIa|Hyperlipoproteinemia, Type IIa|Hyperlipoproteinemia Type IIas|Hyperlipoproteinemia Type IIb|Hyperlipoproteinemia Type IIbs|Hyperlipoproteinemia Type IIs|Hyper Low Density Lipoproteinemia|Hyper-Low Density Lipoproteinemia|Hyper-Low-Density-Lipoproteinemia|Hyper-Low Density Lipoproteinemias|Hyper-Low-Density-Lipoproteinemias|LDL Receptor Disorder|LDL Receptor Disorders|Lipoproteinemia, Hyper-Low Density|Lipoproteinemias, Hyper-Low Density|Receptor Disorder, LDL|Receptor Disorders, LDL|Type 2, Hyperlipoproteinemia|Type IIa Hyperlipoproteinemia|Type IIa Hyperlipoproteinemias|Type II Hyperlipoproteinemia|Type II Hyperlipoproteinemias|Xanthomatoses, Familial Hypercholesterolemic|Xanthomatosis, Familial Hypercholesterolemic Genetic disease (inborn)|Metabolic disease Hyperlipoproteinemia, Type II, and Deafness MESH:C564170 MESH:D003638|MESH:D006951 C09.218.458.341.186/C564170|C10.597.751.418.341.186/C564170|C18.452.584.500.500.644/C564170|C23.888.592.763.393.341.186/C564170 C09.218.458.341.186|C10.597.751.418.341.186|C18.452.584.500.500.644|C23.888.592.763.393.341.186 Ear-nose-throat disease|Metabolic disease|Nervous system disease|Signs and symptoms Hyperlipoproteinemia Type III MESH:D006952 DO:DOID:3145|OMIM:617347 An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides. MESH:D006951|MESH:D008052 C16.320.565.398.483|C18.452.584.500.500.644.485|C18.452.584.563.483|C18.452.648.398.483 C16.320.565.398|C18.452.584.500.500.644|C18.452.584.563|C18.452.648.398 APOLIPOPROTEIN E, DEFICIENCY OR DEFECT OF|Autosomal Recessive Hypercholesterolemia|Autosomal Recessive Hypercholesterolemias|Broad Beta Disease|Broad-beta Hyperlipoproteinemia|BROAD-BETALIPOPROTEINEMIA|Dysbetalipoproteinemia|DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d|Dysbetalipoproteinemia, Familial|Familial Dysbetalipoproteinemia|FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA|Familial Hypercholesterolemia with Hyperlipemia|FLOATING-BETALIPOPROTEINEMIA CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO, INCLUDED|HYPERLIPEMIA WITH FAMILIAL HYPERCHOLESTEROLEMIC XANTHOMATOSIS|Hyperlipoproteinemia, Broad beta|Hyperlipoproteinemia, Broad-beta|Hyperlipoproteinemias, Type III|Hyperlipoproteinemia, Type III|LDLCQ5, INCLUDED|LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5, INCLUDED|Recessive Hypercholesterolemia, Autosomal|Type III Hyperlipoproteinemia|Type III Hyperlipoproteinemias Genetic disease (inborn)|Metabolic disease Hyperlipoproteinemia Type IV MESH:D006953 DO:DOID:1172|OMIM:145750 A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits. MESH:D006951|MESH:D008052|MESH:D015228 C16.320.565.398.487|C18.452.584.500.500.644.490|C18.452.584.500.500.851.500|C18.452.584.563.487|C18.452.648.398.487 C16.320.565.398|C18.452.584.500.500.644|C18.452.584.500.500.851|C18.452.584.563|C18.452.648.398 Carbohydrate Inducible Hyperlipemia|Carbohydrate-Inducible Hyperlipemia|Carbohydrate Inducible Hyperlipemias|Carbohydrate-Inducible Hyperlipemias|Familial Hyperlipoproteinemia Type 4|Familial Hypertriglyceridemia|Familial Type IV Hyperlipoproteinemia|Hyperlipemia, Carbohydrate Inducible|Hyperlipemia, Carbohydrate-Inducible|Hyperlipemias, Carbohydrate Inducible|Hyperlipemias, Carbohydrate-Inducible|Hyperlipoproteinemias, Type IV|Hyperlipoproteinemia, Type IV|Hyper prebeta lipoproteinemia|Hyperprebetalipoproteinemia|HYPERTRIGLYCERIDEMIA 1|Hypertriglyceridemia, Familial|HYTG1|Inducible Hyperlipemia, Carbohydrate|Inducible Hyperlipemias, Carbohydrate|Type IV Hyperlipoproteinemia|Type IV, Hyperlipoproteinemia|Type IV Hyperlipoproteinemias Genetic disease (inborn)|Metabolic disease Hyperlipoproteinemia Type V MESH:D006954 DO:DOID:1171|OMIM:144650 A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I . MESH:D006951|MESH:D008052|MESH:D015228 C16.320.565.398.493|C18.452.584.500.500.644.495|C18.452.584.500.500.851.750|C18.452.584.563.493|C18.452.648.398.493 C16.320.565.398|C18.452.584.500.500.644|C18.452.584.500.500.851|C18.452.584.563|C18.452.648.398 Hyperchylomicronemia Late Onset|Hyperchylomicronemia, Late Onset|Hyperchylomicronemia, Late-Onset|Hyperchylomicronemia Late Onsets|Hyperchylomicronemias, Late-Onset|Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial|Hyperlipemia, Combined Fat And Carbohydrate Induced|Hyperlipemia, Combined Fat And Carbohydrate-Induced|Hyperlipemia, Mixed|Hyperlipemias, Mixed|Hyperlipidemias, Type V|Hyperlipidemia, Type V|Hyperlipoproteinemias, Type V|Hyperlipoproteinemia Type 5|Hyperlipoproteinemia Type 5s|Hyperlipoproteinemia, Type V|Late-Onset Hyperchylomicronemia|Late-Onset Hyperchylomicronemias|Mixed Hyperlipemia|Mixed Hyperlipemias|Type V Hyperlipidemia|Type V Hyperlipidemias|Type V Hyperlipoproteinemia|Type V Hyperlipoproteinemias Genetic disease (inborn)|Metabolic disease Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria MESH:C565499 MESH:D008607|MESH:D020167 C10.228.140.163.100.380/C565499|C10.597.606.360/C565499|C16.320.565.100.544/C565499|C16.320.565.189.380/C565499|C18.452.132.100.380/C565499|C18.452.648.100.544/C565499|C18.452.648.189.380/C565499|C23.888.592.604.646/C565499|F03.625.539/C565499 C10.228.140.163.100.380|C10.597.606.360|C16.320.565.100.544|C16.320.565.189.380|C18.452.132.100.380|C18.452.648.100.544|C18.452.648.189.380|C23.888.592.604.646|F03.625.539 Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Hyperlysinemias MESH:D020167 DO:DOID:9274|OMIM:238700 A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56) MESH:D000592|MESH:D020739 C10.228.140.163.100.380|C16.320.565.100.544|C16.320.565.189.380|C18.452.132.100.380|C18.452.648.100.544|C18.452.648.189.380 C10.228.140.163.100|C16.320.565.100|C16.320.565.189|C18.452.132.100|C18.452.648.100|C18.452.648.189 Alpha Aminoadipic Semialdehyde Deficiency Disease|Alpha-Aminoadipic Semialdehyde Deficiency Disease|ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY|Deficiencies, L-Lysine:NAD-Oxido-Reductase|Deficiencies, Lysine:Alpha-Ketoglutarate Reductase|Deficiency Disease, Alpha Aminoadipic Semialdehyde|Deficiency Disease, Alpha-Aminoadipic Semialdehyde|Deficiency Disease, Lysine Alpha Ketoglutarate Reductase|Deficiency Disease, Lysine Alpha-Ketoglutarate Reductase|Deficiency Disease, Saccharopine Dehydrogenase|Deficiency, L-Lysine:NAD-Oxido-Reductase|Deficiency, Lysine:Alpha-Ketoglutarate Reductase|Familial Hyperlysinemia|Familial Hyperlysinemias|Hyperammonemia, Hyperlysinuria With|Hyperammonemias, Hyperlysinuria With|Hyperlysinemia|Hyperlysinemia, Familial|Hyperlysinemia, Periodic|Hyperlysinemias, Familial|Hyperlysinemias, Periodic|HYPERLYSINEMIA, TYPE I|Hyperlysinuria With Hyperammonemia|Hyperlysinuria With Hyperammonemias|L-Lysine:NAD-Oxido-Reductase Deficiencies|L Lysine:NAD Oxido Reductase Deficiency|L-Lysine:NAD-Oxido-Reductase Deficiency|Lysine:Alpha-Ketoglutarate Reductase Deficiencies|Lysine:Alpha Ketoglutarate Reductase Deficiency|Lysine:Alpha-Ketoglutarate Reductase Deficiency|Lysine Alpha Ketoglutarate Reductase Deficiency Disease|Lysine Alpha-Ketoglutarate Reductase Deficiency Disease|LYSINE INTOLERANCE|Periodic Hyperlysinemia|Periodic Hyperlysinemias|Reductase Deficiencies, Lysine:Alpha-Ketoglutarate|Reductase Deficiency, Lysine:Alpha-Ketoglutarate|Saccharopine Dehydrogenase Deficiency Disease|With Hyperammonemia, Hyperlysinuria|With Hyperammonemias, Hyperlysinuria Genetic disease (inborn)|Metabolic disease|Nervous system disease HYPERMANGANESEMIA WITH DYSTONIA 1 OMIM:613280 DO:DOID:0080536 MESH:C548016 C18.452/C548016/613280 C18.452/C548016 HMDPC|HMNDYT1|HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS Metabolic disease HYPERMANGANESEMIA WITH DYSTONIA 2 OMIM:617013 DO:DOID:0080537 MESH:C548016 C18.452/C548016/617013 C18.452/C548016 HMNDYT2 Metabolic disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis MESH:C548016 MESH:D008659 C18.452/C548016 C18.452 Dystonia-Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease|Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia|Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia|Hmdpc|Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis|Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease Metabolic disease Hypermetabolism due to Defect in Mitochondria MESH:C565498 MESH:D028361 C18.452.660/C565498 C18.452.660 Metabolic disease Hypermethioninemia MESH:C564683 DO:DOID:0050544|OMIM:250850|OMIM:606664|OMIM:613752 MESH:D000592 C16.320.565.100/C564683|C18.452.648.100/C564683 C16.320.565.100|C18.452.648.100 Deficiency of Methionine Adenosyltransferase|Glycine N-Methyltransferase Deficiency|GNMT Deficiency|Hepatic Methionine Adenosyltransferase Deficiency|Hypermethioninemia, Isolated Persistent|Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase|HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY|MAT DEFICIENCY|MAT I/III DEFICIENCY|Methionine Adenosyltransferase Deficiency|METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY|Methioninemia|S-Adenosylhomocysteine Hydrolase Deficiency Genetic disease (inborn)|Metabolic disease HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY OMIM:614300 DO:DOID:0111038 MESH:C564683|MESH:D002658|MESH:D012640 C10.597.742/614300|C16.320.565.100/C564683/614300|C18.452.648.100/C564683/614300|C23.888.592.742/614300|F03.625.421/614300 C10.597.742|C16.320.565.100/C564683|C18.452.648.100/C564683|C23.888.592.742|F03.625.421 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8, FORMERLY|MRT8, FORMERLY Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Hypernatremia MESH:D006955 Excessive amount of sodium in the blood. (Dorland, 27th ed) MESH:D014883 C18.452.950.452 C18.452.950 Hypernatremias Metabolic disease Hyperopia MESH:D006956 DO:DOID:9834 A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed) MESH:D012030 C11.744.479 C11.744 Farsightedness|Hypermetropia Eye disease Hyperopia, High MESH:C565497 MESH:D006956|MESH:D015785 C11.270/C565497|C11.744.479/C565497|C16.320.290/C565497 C11.270|C11.744.479|C16.320.290 Eye disease|Genetic disease (inborn) Hyperostosis MESH:D015576 DO:DOID:205 Increase in the mass of bone per unit volume. MESH:D001847 C05.116.540 C05.116 Bone Hypertrophies|Bone Hypertrophy|Hyperostoses|Hypertrophies, Bone|Hypertrophy, Bone Musculoskeletal disease Hyperostosis, Cortical, Congenital MESH:D006958 DO:DOID:4257|OMIM:114000 A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed) MESH:D007232|MESH:D010009|MESH:D015576 C05.116.099.708.479|C05.116.540.400|C16.614.465 C05.116.099.708|C05.116.540|C16.614 Caffey De Toni Silvermann Syndrome|Caffey-De Toni-Silvermann Syndrome|Caffey Disease|Caffey's Disease, Familial|CAFYD|Congenital Cortical Hyperostoses|Congenital Cortical Hyperostosis|Congenital Hyperostoses, Cortical|Congenital Hyperostosis, Cortical|Cortical Congenital Hyperostoses|Cortical Congenital Hyperostosis|Cortical Hyperostoses, Congenital|Cortical Hyperostoses, Infantile|Cortical Hyperostosis, Congenital|Cortical Hyperostosis, Infantile|Disease, Caffey|Disease, Familial Caffey's|Familial Caffey Disease|Familial Caffey's Disease|Familial Caffeys Disease|Familial Infantile Cortical Hyperostosis|Hyperostoses, Congenital Cortical|Hyperostoses, Cortical Congenital|Hyperostoses, Infantile Cortical|Hyperostosis, Congenital Cortical|Hyperostosis, Cortical Congenital|Hyperostosis, Infantile Cortical|Infantile Cortical Hyperostoses|Infantile Cortical Hyperostosis|Syndrome, Caffey-De Toni-Silvermann Infant-newborn disease|Musculoskeletal disease Hyperostosis corticalis deformans juvenilis MESH:C537701 MESH:D010001 C05.116.692/C537701 C05.116.692 Chronic Congenital Idiopathic Hyperphosphatasemia|Familial Idiopathic Hyperphosphatasemia|Familial Osteoectasia|Hyperphosphatasemia, chronic congenital idiopathic|Hyperphosphatasemia with Bone Disease|Hyperphosphatasia, familial idiopathic|Idiopathic Hyperphosphatasia|Juvenile Paget Disease|Juvenile Paget's Disease|Osteochalasia Desmalis Familiaris|Osteoectasia, familial|Osteoectasia with Hyperphosphatasia|Paget disease of bone 5, juvenile-onset Musculoskeletal disease Hyperostosis Cranialis Interna MESH:C564168 MESH:D010026|MESH:D015576 C05.116.099.708.702/C564168|C05.116.540/C564168 C05.116.099.708.702|C05.116.540 Musculoskeletal disease Hyperostosis, Diffuse Idiopathic Skeletal MESH:D004057 DO:DOID:6652 A disease of elderly men characterized by large osteophytes that bridge vertebrae and ossification of ligaments and tendon insertions. MESH:D013128|MESH:D015576 C05.116.540.410|C05.116.900.815.651 C05.116.540|C05.116.900.815 Ankylosing Hyperostoses, Vertebral|Ankylosing Hyperostosis, Vertebral|Ankylosing Vertebral Hyperostosis with Tylosis|Diffuse Idiopathic Skeletal Hyperostosis|Disease, Forestier|Disease, Forestier-Rotes|Disease, Forestier's|Forestier Disease|Forestier Rotes Disease|Forestier-Rotes Disease|Forestier's Disease|Forestiers Disease|Hyperostoses, Vertebral Ankylosing|Hyperostosis, Vertebral Ankylosing|Vertebral Ankylosing Hyperostoses|Vertebral Ankylosing Hyperostosis Musculoskeletal disease Hyperostosis Frontalis Interna MESH:D006957 Thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. It most commonly affects women near menopause. MESH:D010009|MESH:D015576 C05.116.099.708.486|C05.116.540.420 C05.116.099.708|C05.116.540 Leontiasis Ossium|Morgagni Stewart Morel Syndrome|Morgagni-Stewart-Morel Syndrome|Syndrome, Morgagni-Stewart-Morel Musculoskeletal disease Hyperostosis frontalis interna, obesity, shortness and cognitive impairment MESH:C538586 MESH:D006957 C05.116.099.708.486/C538586|C05.116.540.420/C538586 C05.116.099.708.486|C05.116.540.420 Musculoskeletal disease Hyperostosis-hyperphosphatemia syndrome MESH:C538381 MESH:D015576|MESH:D054559 C05.116.540/C538381|C18.452.750.199/C538381 C05.116.540|C18.452.750.199 Cortical hyperostosis with hyperphosphatemia|Hyperostosis with hyperphosphatemia Metabolic disease|Musculoskeletal disease Hyperostosis, Sternocostoclavicular MESH:D015218 A rare, benign rheumatologic disorder or syndrome characterized by hyperostosis and soft tissue ossification between the clavicles and the anterior part of the upper ribs. It is often associated with the dermatologic disorder palmoplantar pustulosis, particularly in Japan. Careful diagnosis is required to distinguish it from psoriatic arthritis, OSTEITIS DEFORMANS, and other diseases. Spondylitis of pustulosis palmaris et plantaris is one of the possible causes; also, evidence suggests one origin may be bone infection. Bone imaging is especially useful for diagnosis. It was originally described by Sonozaki in 1974. MESH:D012216|MESH:D015576 C05.116.540.600|C05.799.440|C17.300.775.440 C05.116.540|C05.799|C17.300.775 Hyperostoses, Sternocostoclavicular|Sternocostoclavicular Hyperostoses|Sternocostoclavicular Hyperostosis Connective tissue disease|Musculoskeletal disease Hyperoxaluria MESH:D006959 DO:DOID:2977 Excretion of an excessive amount of OXALATES in the urine. MESH:D007674 C12.050.351.968.419.313|C12.200.777.419.313|C12.950.419.313 C12.050.351.968.419|C12.200.777.419|C12.950.419 Oxalosis|Oxaluria Urogenital disease (female)|Urogenital disease (male) Hyperoxaluria, Primary MESH:D006960 DO:DOID:2977 A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS; NEPHROCALCINOSIS; early onset of RENAL FAILURE; and often a generalized deposit of CALCIUM OXALATE. There are subtypes classified by the enzyme defects in glyoxylate metabolism. MESH:D002239|MESH:D006959 C12.050.351.968.419.313.500|C12.200.777.419.313.500|C12.950.419.313.500|C16.320.565.202.460|C18.452.648.202.460 C12.050.351.968.419.313|C12.200.777.419.313|C12.950.419.313|C16.320.565.202|C18.452.648.202 Hyperoxalurias, Primary|Oxaloses, Primary|Oxalosis, Primary|Oxaluria, Primary|Oxalurias, Primary|Primary Hyperoxaluria|Primary Hyperoxalurias|Primary Oxaloses|Primary Oxalosis|Primary Oxaluria|Primary Oxalurias Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) HYPEROXALURIA, PRIMARY, TYPE III OMIM:613616 DO:DOID:0111672 MESH:D006960 C12.050.351.968.419.313.500/613616|C12.200.777.419.313.500/613616|C12.950.419.313.500/613616|C16.320.565.202.460/613616|C18.452.648.202.460/613616 C12.050.351.968.419.313.500|C12.200.777.419.313.500|C12.950.419.313.500|C16.320.565.202.460|C18.452.648.202.460 HP3 Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Hyperoxia MESH:D018496 An abnormal increase in the amount of oxygen in the tissues and organs. MESH:D012818 C23.888.852.567 C23.888.852 Hyperoxias Signs and symptoms Hyperparathyroidism MESH:D006961 DO:DOID:13543 A condition of abnormally elevated output of PARATHYROID HORMONE (or PTH) triggering responses that increase blood CALCIUM. It is characterized by HYPERCALCEMIA and BONE RESORPTION, eventually leading to bone diseases. PRIMARY HYPERPARATHYROIDISM is caused by parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. SECONDARY HYPERPARATHYROIDISM is increased PTH secretion in response to HYPOCALCEMIA, usually caused by chronic KIDNEY DISEASES. MESH:D010279 C19.642.355 C19.642 Endocrine system disease Hyperparathyroidism 1 MESH:C564166 OMIM:145000 MESH:D049950 C19.642.355.239/C564166 C19.642.355.239 HRPT1|Hyperparathyroidism, Familial Isolated Primary|HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY;FIHP PARATHYROID ADENOMA, FAMILIAL, INCLUDED|Parathyroid Adenoma, Familial Endocrine system disease Hyperparathyroidism 2 MESH:C563273 OMIM:145001 MESH:D000236|MESH:D005350|MESH:D006961|MESH:D007573 C04.557.450.565.590.340/C563273|C04.557.470.035/C563273|C04.588.149.721.450/C563273|C05.116.231.754.450/C563273|C05.500.499/C563273|C07.320.515/C563273|C19.642.355/C563273 C04.557.450.565.590.340|C04.557.470.035|C04.588.149.721.450|C05.116.231.754.450|C05.500.499|C07.320.515|C19.642.355 Familial Cystic Parathyroid Adenomatosis|Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas|Hereditary Hyperparathyroidism-Jaw Tumor Syndrome|Hpt-Jt|HRPT2|HYPERPARATHYROIDISM 2 WITH JAW TUMORS|Hyperparathyroidism, Familial Primary, with Multiple Ossifying Jaw Fibromas|Hyperparathyroidism-Jaw Tumor Syndrome|Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary|HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY;HPT-JT PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC, INCLUDED Cancer|Endocrine system disease|Mouth disease|Musculoskeletal disease Hyperparathyroidism 3 MESH:C566450 OMIM:610071 MESH:D049950 C19.642.355.239/C566450 C19.642.355.239 HRPT3 Endocrine system disease HYPERPARATHYROIDISM 4 OMIM:617343 MESH:D006961 C19.642.355/617343 C19.642.355 HRPT4 Endocrine system disease Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria MESH:C565496 MESH:D049950 C19.642.355.239/C565496 C19.642.355.239 Endocrine system disease Hyperparathyroidism, Neonatal Severe Primary MESH:C563375 OMIM:239200 MESH:D007232|MESH:D049950 C16.614/C563375|C19.642.355.239/C563375 C16.614|C19.642.355.239 HYPERPARATHYROIDISM, NEONATAL SEVERE|HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY|NHPT|NSHPT|NSPH Endocrine system disease|Infant-newborn disease Hyperparathyroidism, Primary MESH:D049950 DO:DOID:11202 A condition of abnormally elevated output of PARATHYROID HORMONE due to parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. It is characterized by the combination of HYPERCALCEMIA, phosphaturia, elevated renal 1,25-DIHYDROXYVITAMIN D3 synthesis, and increased BONE RESORPTION. MESH:D006961 C19.642.355.239 C19.642.355 Hyperparathyroidisms, Primary|Primary Hyperparathyroidism|Primary Hyperparathyroidisms Endocrine system disease Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia MESH:C563982 MESH:D049950 C19.642.355.239/C563982 C19.642.355.239 Endocrine system disease Hyperparathyroidism, Secondary MESH:D006962 DO:DOID:12466 Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY. MESH:D006961 C19.642.355.480 C19.642.355 Hyperparathyroidisms, Secondary|Secondary Hyperparathyroidism|Secondary Hyperparathyroidisms Endocrine system disease Hyperphagia MESH:D006963 Ingestion of a greater than optimal quantity of food. MESH:D012817 C23.888.821.645 C23.888.821 Overeating|Polyphagia|Polyphagias Signs and symptoms Hyperphenylalaninemia, BH4-Deficient, B MESH:C562656 OMIM:233910 MESH:D010661 C10.228.140.163.100.687/C562656|C16.320.565.100.766/C562656|C16.320.565.189.687/C562656|C18.452.132.100.687/C562656|C18.452.648.100.766/C562656|C18.452.648.189.687/C562656 C10.228.140.163.100.687|C16.320.565.100.766|C16.320.565.189.687|C18.452.132.100.687|C18.452.648.100.766|C18.452.648.189.687 GTPCH deficiency|GTP Cyclohydrolase I Deficiency|GTP CYCLOHYDROLASE I DEFICIENCY DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDED|HPABH4B|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To GTP Cyclohydrolase I Deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C OMIM:261630 DO:DOID:0081130 MESH:D010661 C10.228.140.163.100.687/261630|C16.320.565.100.766/261630|C16.320.565.189.687/261630|C18.452.132.100.687/261630|C18.452.648.100.766/261630|C18.452.648.189.687/261630 C10.228.140.163.100.687|C16.320.565.100.766|C16.320.565.189.687|C18.452.132.100.687|C18.452.648.100.766|C18.452.648.189.687 DHPR DEFICIENCY|DIHYDROPTERIDINE REDUCTASE DEFICIENCY|HPABH4C|HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY|QDPR DEFICIENCY|QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY Genetic disease (inborn)|Metabolic disease|Nervous system disease HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D OMIM:264070 DO:DOID:0081131 MESH:D010661 C10.228.140.163.100.687/264070|C16.320.565.100.766/264070|C16.320.565.189.687/264070|C18.452.132.100.687/264070|C18.452.648.100.766/264070|C18.452.648.189.687/264070 C10.228.140.163.100.687|C16.320.565.100.766|C16.320.565.189.687|C18.452.132.100.687|C18.452.648.100.766|C18.452.648.189.687 CADH DEFICIENCY|HPABH4D|HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY|HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA|PCBD DEFICIENCY Genetic disease (inborn)|Metabolic disease|Nervous system disease Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency MESH:C567493 MESH:D010661 C10.228.140.163.100.687/C567493|C16.320.565.100.766/C567493|C16.320.565.189.687/C567493|C18.452.132.100.687/C567493|C18.452.648.100.766/C567493|C18.452.648.189.687/C567493 C10.228.140.163.100.687|C16.320.565.100.766|C16.320.565.189.687|C18.452.132.100.687|C18.452.648.100.766|C18.452.648.189.687 Genetic disease (inborn)|Metabolic disease|Nervous system disease HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT OMIM:617384 MESH:D010661 C10.228.140.163.100.687/617384|C16.320.565.100.766/617384|C16.320.565.189.687/617384|C18.452.132.100.687/617384|C18.452.648.100.766/617384|C18.452.648.189.687/617384 C10.228.140.163.100.687|C16.320.565.100.766|C16.320.565.189.687|C18.452.132.100.687|C18.452.648.100.766|C18.452.648.189.687 HPANBH4 Genetic disease (inborn)|Metabolic disease|Nervous system disease Hyperphenylalaninemia, Non-Pku Mild MESH:C567494 MESH:D010661 C10.228.140.163.100.687/C567494|C16.320.565.100.766/C567494|C16.320.565.189.687/C567494|C18.452.132.100.687/C567494|C18.452.648.100.766/C567494|C18.452.648.189.687/C567494 C10.228.140.163.100.687|C16.320.565.100.766|C16.320.565.189.687|C18.452.132.100.687|C18.452.648.100.766|C18.452.648.189.687 Genetic disease (inborn)|Metabolic disease|Nervous system disease Hyperphenylalaninemia with primapterinuria MESH:C538382 MESH:D010661 C10.228.140.163.100.687/C538382|C16.320.565.100.766/C538382|C16.320.565.189.687/C538382|C18.452.132.100.687/C538382|C18.452.648.100.766/C538382|C18.452.648.189.687/C538382 C10.228.140.163.100.687|C16.320.565.100.766|C16.320.565.189.687|C18.452.132.100.687|C18.452.648.100.766|C18.452.648.189.687 CADH Deficiency|HPABH4D|Hyperphenylalaninemia, BH4-Deficient, D|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency|PCBD Deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 OMIM:614207 DO:DOID:0070435 MESH:C565495 C10.597.606.360/C565495/614207|C16.131.077/C565495/614207|C18.452.750/C565495/614207|C23.888.592.604.646/C565495/614207|F03.625.539/C565495/614207 C10.597.606.360/C565495|C16.131.077/C565495|C18.452.750/C565495|C23.888.592.604.646/C565495|F03.625.539/C565495 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8|GPIBD8|HPMRS3|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21|MRT17|MRT21 Congenital abnormality|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Hyperphosphatasia with Mental Retardation MESH:C565495 DO:DOID:0070431|OMIM:239300|OMIM:614749|OMIM:615716|OMIM:616025|OMIM:616809 MESH:D000015|MESH:D008607|MESH:D010760 C10.597.606.360/C565495|C16.131.077/C565495|C18.452.750/C565495|C23.888.592.604.646/C565495|F03.625.539/C565495 C10.597.606.360|C16.131.077|C18.452.750|C23.888.592.604.646|F03.625.539 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10|GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11|GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12|GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2|GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6|GPIBD10|GPIBD11|GPIBD12|GPIBD2|GPIBD6|HPMRS1|HPMRS2|HPMRS4|HPMRS5|HPMRS6|HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1|HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2|HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4|HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6|HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4|HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5|HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6|MABRY SYNDROME Congenital abnormality|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Hyperphosphatemia MESH:D054559 DO:DOID:0050459 A condition of abnormally high level of PHOSPHATES in the blood, usually significantly above the normal range of 0.84-1.58 mmol per liter of serum. MESH:D010760 C18.452.750.199 C18.452.750 Hyperphosphatemias Metabolic disease Hyperphosphatemia, Polyuria, and Seizures MESH:C565494 MESH:D011141|MESH:D012640|MESH:D054559 C10.597.742/C565494|C12.050.351.968.934.616/C565494|C12.200.777.934.616/C565494|C12.950.934.616/C565494|C18.452.750.199/C565494|C23.888.592.742/C565494|C23.888.942.600/C565494 C10.597.742|C12.050.351.968.934.616|C12.200.777.934.616|C12.950.934.616|C18.452.750.199|C23.888.592.742|C23.888.942.600 Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Hyperpigmentation MESH:D017495 Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance. MESH:D010859 C17.800.621.430 C17.800.621 Hypermelanoses|Hypermelanosis Skin disease Hyperpigmentation, Familial Progressive MESH:C564163 MESH:D017495 C17.800.621.430/C564163 C17.800.621.430 Melanosis Universalis Hereditaria Skin disease Hyperpigmentation of Eyelids MESH:C562400 DO:DOID:10122 MESH:D005141|MESH:D017495 C11.338/C562400|C17.800.621.430/C562400 C11.338|C17.800.621.430 Eye disease|Skin disease Hyperpigmentation of Fuldauer and Kuijpers MESH:C564164 MESH:D017495 C17.800.621.430/C564164 C17.800.621.430 Skin disease HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE OMIM:145250 DO:DOID:0111373 MESH:C564163 C17.800.621.430/C564163/145250 C17.800.621.430/C564163 FPH2, FORMERLY|FPHH|HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2, FORMERLY|MELANOSIS UNIVERSALIS HEREDITARIA|MUH Skin disease Hyperpituitarism MESH:D006964 DO:DOID:2444 Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA. MESH:D010900 C10.228.140.617.738.250|C19.700.355 C10.228.140.617.738|C19.700 Follicle Stimulating Hormone, Inappropriate Secretion|FSH Hypersecretion, Pituitary|Hypersecretion, Pituitary FSH|Hypersecretion, Pituitary LH|Hypersecretion, Pituitary TSH|Inappropriate Follicle Stimulating Hormone Secretion|Inappropriate FSH Secretion Syndrome|Inappropriate LH Secretion Syndrome|Inappropriate Luteinizing Hormone Secretion|Inappropriate Thyroid Stimulating Hormone Secretion|Inappropriate TSH Secretion Syndrome|LH Hypersecretion, Pituitary|Luteinizing Hormone, Inappropriate Secretion|Pituitary FSH Hypersecretion|Pituitary LH Hypersecretion|Pituitary TSH Hypersecretion|Thyroid Stimulating Hormone, Inappropriate Secretion|TSH Hypersecretion, Pituitary Endocrine system disease|Nervous system disease Hyperplasia MESH:D006965 An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells. MESH:D010335 C23.550.444 C23.550 Hyperplasias Pathology (process) Hyperproglucagonemia MESH:C564159 MESH:D002239 C16.320.565.202/C564159|C18.452.648.202/C564159 C16.320.565.202|C18.452.648.202 Glucagon, Large Molecular Weight Species Of Genetic disease (inborn)|Metabolic disease Hyperproinsulinemia MESH:C562776 OMIM:616214 MESH:D003920 C18.452.394.750/C562776|C19.246/C562776 C18.452.394.750|C19.246 Endocrine system disease|Metabolic disease Hyperprolactinemia MESH:D006966 DO:DOID:12700|OMIM:615555 Increased levels of PROLACTIN in the BLOOD, which may be associated with AMENORRHEA and GALACTORRHEA. Relatively common etiologies include PROLACTINOMA, medication effect, KIDNEY FAILURE, granulomatous diseases of the PITUITARY GLAND, and disorders which interfere with the hypothalamic inhibition of prolactin release. Ectopic (non-pituitary) production of prolactin may also occur. (From Joynt, Clinical Neurology, 1992, Ch36, pp77-8) MESH:D006964 C10.228.140.617.738.250.450|C19.700.355.600 C10.228.140.617.738.250|C19.700.355 HPRL|Hyperprolactinaemia|Hyperprolactinemias|Hypersecretion Syndrome, Prolactin|Inappropriate Prolactin Secretion|Inappropriate Prolactin Secretion Syndrome|Inappropriate Secretion Prolactin|Prolactin Hypersecretion Syndrome|Prolactin, Inappropriate Secretion|Prolactin Secretion, Inappropriate|Secretion, Inappropriate Prolactin|Secretion Prolactin, Inappropriate|Syndrome, Prolactin Hypersecretion Endocrine system disease|Nervous system disease Hyperprolinemia type 2 MESH:C538385 DO:DOID:0080543|OMIM:239510 MESH:D000592 C16.320.565.100/C538385|C18.452.648.100/C538385 C16.320.565.100|C18.452.648.100 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency|1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency|HPII|Hyperprolinemia, Type II|HYRPRO2|Pyrroline-5-Carboxylate Dehydrogenase Deficiency|Pyrroline Carboxylate Dehydrogenase Deficiency|Type 2 hyperprolinemia Genetic disease (inborn)|Metabolic disease HYPERPROLINEMIA, TYPE I OMIM:239500 DO:DOID:0080542 MESH:D000592 C16.320.565.100/239500|C18.452.648.100/239500 C16.320.565.100|C18.452.648.100 HPI|HYRPRO1|PROLINE OXIDASE DEFICIENCY Genetic disease (inborn)|Metabolic disease Hyperprothrombinemia MESH:C566755 MESH:D019851 C15.378.925/C566755 C15.378.925 Prothrombin G20210a Thrombophilia|Prothrombin Thrombophilia Blood disease Hyperreninemic Hypoaldosteronism, Familial, 2 MESH:C564638 MESH:D006994 C19.053.500.480/C564638 C19.053.500.480 Endocrine system disease Hypersensitivity MESH:D006967 DO:DOID:1205 Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen. MESH:D007154 C20.543 C20 Allergic Reaction|Allergic Reactions|Allergies|Allergy|Hypersensitivities|Reaction, Allergic|Reactions, Allergic Immune system disease Hypersensitivity, Delayed MESH:D006968 An increased reactivity to specific antigens mediated not by antibodies but by sensitized T CELLS. MESH:D006967 C20.543.418 C20.543 Delayed Hypersensitivities|Delayed Hypersensitivity|Hypersensitivity, Tuberculin Type|Hypersensitivity, Tuberculin-Type|Hypersensitivity, Type IV|Tuberculin-Type Hypersensitivities|Tuberculin Type Hypersensitivity|Tuberculin-Type Hypersensitivity|Type IV Hypersensitivities|Type IV Hypersensitivity Immune system disease Hypersensitivity, Immediate MESH:D006969 Hypersensitivity reactions which occur within minutes of exposure to challenging antigen due to the release of histamine which follows the antigen-antibody reaction and causes smooth muscle contraction and increased vascular permeability. MESH:D006967 C20.543.480 C20.543 Atopic Hypersensitivities|Atopic Hypersensitivity|Hypersensitivities, Atopic|Hypersensitivities, IgE-Mediated|Hypersensitivities, Immediate|Hypersensitivities, Type I|Hypersensitivity, Atopic|Hypersensitivity, IgE-Mediated|Hypersensitivity, Type I|IgE-Mediated Hypersensitivities|IgE Mediated Hypersensitivity|IgE-Mediated Hypersensitivity|Immediate Hypersensitivities|Immediate Hypersensitivity|Type I Hypersensitivities|Type I Hypersensitivity Immune system disease Hypersplenism MESH:D006971 DO:DOID:6376 Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy. MESH:D013158 C15.604.744.293 C15.604.744 Anemia, Splenic|Anemias, Splenic|Splenic Anemia|Splenic Anemias Lymphatic disease Hypertaurinuric Cardiomyopathy MESH:C564157 MESH:D000592|MESH:D009202 C14.280.238/C564157|C16.320.565.100/C564157|C18.452.648.100/C564157 C14.280.238|C16.320.565.100|C18.452.648.100 Cardiovascular disease|Genetic disease (inborn)|Metabolic disease Hypertelorism MESH:D006972 Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid. MESH:D003394 C05.116.099.370.231.480|C05.660.207.231.480|C16.131.621.207.231.480 C05.116.099.370.231|C05.660.207.231|C16.131.621.207.231 Hypertelorisms Congenital abnormality|Musculoskeletal disease Hypertelorism and tetralogy of Fallot MESH:C538386 MESH:D006972|MESH:D013771 C05.116.099.370.231.480/C538386|C05.660.207.231.480/C538386|C14.240.400.849/C538386|C14.280.400.849/C538386|C16.131.240.400.849/C538386|C16.131.621.207.231.480/C538386 C05.116.099.370.231.480|C05.660.207.231.480|C14.240.400.849|C14.280.400.849|C16.131.240.400.849|C16.131.621.207.231.480 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS OMIM:614187 MESH:D003638|MESH:D004427|MESH:D006972|MESH:D007767 C05.116.099.370.231.480/614187|C05.660.207.231.480/614187|C09.218.458.341.186/614187|C09.218/614187|C10.597.751.418.341.186/614187|C11.496.456/614187|C16.131.621.207.231.480/614187|C23.888.592.763.393.341.186/614187 C05.116.099.370.231.480|C05.660.207.231.480|C09.218|C09.218.458.341.186|C10.597.751.418.341.186|C11.496.456|C16.131.621.207.231.480|C23.888.592.763.393.341.186 HPPD Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility MESH:C566988 OMIM:611174 MESH:D001847|MESH:D006972|MESH:D008607|MESH:D009216 C05.116.099.370.231.480/C566988|C05.116/C566988|C05.660.207.231.480/C566988|C10.597.606.360/C566988|C11.744.636/C566988|C16.131.621.207.231.480/C566988|C23.888.592.604.646/C566988|F03.625.539/C566988 C05.116|C05.116.099.370.231.480|C05.660.207.231.480|C10.597.606.360|C11.744.636|C16.131.621.207.231.480|C23.888.592.604.646|F03.625.539 Hamamy syndrome|HMMS|HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Hypertelorism with esophageal abnormality and hypospadias MESH:C538387 OMIM:145420 MESH:D006972|MESH:D007021 C05.116.099.370.231.480/C538387|C05.660.207.231.480/C538387|C12.050.351.875.466/C538387|C12.100.500.494.400/C538387|C12.200.294.494.400/C538387|C12.200.706.516/C538387|C12.800.516/C538387|C16.131.621.207.231.480/C538387|C16.131.939.516/C538387 C05.116.099.370.231.480|C05.660.207.231.480|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.621.207.231.480|C16.131.939.516 Autosomal Dominant Opitz Syndrome (ADOS)|BBBG2, FORMERLY|Brachycephalofrontonasal dysplasia|Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype|GBBB2, FORMERLY|Hypertelorism-Hypospadias Sydrome|Hypertelorism hypospadias syndrome|HYPERTELORISM-HYPOSPADIAS SYNDROME, FORMERLY|Hypertelorism, Teebi type|Hypertelorism with Esophageal Abnormalities and Hypospadias|HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS, FORMERLY|Hypospadias-dysphagia, syndrome|Hypospadias-Dysphagia Syndrome|OGS2, FORMERLY|Opitz BBBG syndrome|Opitz BBB-G Syndrome|OPITZ BBBG SYNDROME, TYPE II, FORMERLY|Opitz BBB Syndrome|OPITZ BBB SYNDROME, TYPE II, FORMERLY|Opitz-Frias syndrome|OPITZ-FRIAS SYNDROME, FORMERLY|Opitz G-BBB Syndrome|Opitz GBBB Syndrome, Autosomal Dominant|Opitz GBBB Syndrome, Type II|OPITZ GBBB SYNDROME, TYPE II, FORMERLY|Opitz G Syndrome|Opitz-G syndrome, type 2|Opitz-G Syndrome, Type II|OPITZ-G SYNDROME, TYPE II, FORMERLY|Opitz Oculogenitolaryngeal Syndrome, Type II|OPITZ OCULOGENITOLARYNGEAL SYNDROME, TYPE II, FORMERLY|TBHS|TBHS1|Teebi hypertelorism syndrome|TEEBI HYPERTELORISM SYNDROME 1|Teebi syndrome|Telecanthus with associated abnormalities Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Hypertension MESH:D006973 DO:DOID:10763 Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. MESH:D014652 C14.907.489 C14.907 Blood Pressure, High|Blood Pressures, High|High Blood Pressure|High Blood Pressures Cardiovascular disease Hypertension, Diastolic, Resistance to MESH:C563897 OMIM:608622 MESH:D006973 C14.907.489/C563897 C14.907.489 Cardiovascular disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy MESH:C565359 OMIM:605115 MESH:D006973 C14.907.489/C565359 C14.907.489 Cardiovascular disease Hypertension, Malignant MESH:D006974 DO:DOID:10824 A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction. MESH:D006973 C14.907.489.330 C14.907.489 Malignant Hypertension Cardiovascular disease Hypertension, Portal MESH:D006975 DO:DOID:10762|OMIM:617068 Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN. MESH:D008107 C06.552.494 C06.552 Cruveilhier Baumgarten Disease|Cruveilhier-Baumgarten Disease|Cruveilhier Baumgarten Syndrome|Cruveilhier-Baumgarten Syndrome|Disease, Cruveilhier-Baumgarten|NCPH1|Portal Hypertension|PORTAL HYPERTENSION, NONCIRRHOTIC, 1|Portal Hypertensions|Syndrome, Cruveilhier-Baumgarten Digestive system disease Hypertension, Pregnancy-Induced MESH:D046110 A condition in pregnant women with elevated systolic (>140 mm Hg) and diastolic (>90 mm Hg) blood pressure on at least two occasions 6 h apart. HYPERTENSION complicates 8-10% of all pregnancies, generally after 20 weeks of gestation. Gestational hypertension can be divided into several broad categories according to the complexity and associated symptoms, such as EDEMA; PROTEINURIA; SEIZURES; abnormalities in BLOOD COAGULATION and liver functions. MESH:D006973|MESH:D011248 C12.050.703.395|C14.907.489.480 C12.050.703|C14.907.489 Gestational Hypertension|Hypertension, Gestational|Hypertension, Pregnancy Induced|Hypertension, Pregnancy Transient|Hypertensions, Pregnancy Induced|Induced Hypertension, Pregnancy|Induced Hypertensions, Pregnancy|Pregnancy Induced Hypertension|Pregnancy-Induced Hypertension|Pregnancy Transient Hypertension|Transient Hypertension, Pregnancy Cardiovascular disease|Pregnancy complication Hypertension, Pulmonary MESH:D006976 DO:DOID:6432|OMIM:178600 Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES. MESH:D006973|MESH:D008171 C08.381.423|C14.907.489.556 C08.381|C14.907.489 PHT|PPH1|PPH1 WITH HHT, INCLUDED|PULMONARY ARTERIAL HYPERTENSION;PAH PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED|Pulmonary Hypertension|PULMONARY HYPERTENSION, PRIMARY, 1|PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA, INCLUDED|PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED, INCLUDED Cardiovascular disease|Respiratory tract disease Hypertension, Renal MESH:D006977 DO:DOID:1073 Persistent high BLOOD PRESSURE due to KIDNEY DISEASES, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete RENIN. MESH:D006973|MESH:D007674 C12.050.351.968.419.331|C12.200.777.419.331|C12.950.419.331|C14.907.489.631 C12.050.351.968.419|C12.200.777.419|C12.950.419|C14.907.489 Hypertensions, Renal|Renal Hypertension|Renal Hypertensions Cardiovascular disease|Urogenital disease (female)|Urogenital disease (male) Hypertension, Renovascular MESH:D006978 DO:DOID:1591 Hypertension due to RENAL ARTERY OBSTRUCTION or compression. MESH:D006977 C12.050.351.968.419.331.490|C12.200.777.419.331.490|C12.950.419.331.490|C14.907.489.631.485 C12.050.351.968.419.331|C12.200.777.419.331|C12.950.419.331|C14.907.489.631 Goldblatt Hypertension|Goldblatt Syndrome|Hypertension, Goldblatt|Renovascular Hypertension|Syndrome, Goldblatt Cardiovascular disease|Urogenital disease (female)|Urogenital disease (male) Hypertension Resistant to Conventional Therapy MESH:C563514 MESH:D003329|MESH:D006973 C14.280.647.250.295/C563514|C14.907.489/C563514|C14.907.585.250.295/C563514 C14.280.647.250.295|C14.907.489|C14.907.585.250.295 Cardiovascular disease Hypertensive Encephalopathy MESH:D020343 DO:DOID:9427 Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE. MESH:D019586 C10.228.140.631.500 C10.228.140.631 Encephalopathy, Hypertensive Nervous system disease Hypertensive Nephropathy MESH:C563161 OMIM:608026 MESH:D006977|MESH:D009393 C12.050.351.968.419.331/C563161|C12.050.351.968.419.570/C563161|C12.200.777.419.331/C563161|C12.200.777.419.570/C563161|C12.950.419.331/C563161|C12.950.419.570/C563161|C14.907.489.631/C563161 C12.050.351.968.419.331|C12.050.351.968.419.570|C12.200.777.419.331|C12.200.777.419.570|C12.950.419.331|C12.950.419.570|C14.907.489.631 HNP1 Cardiovascular disease|Urogenital disease (female)|Urogenital disease (male) Hypertensive Retinopathy MESH:D058437 DO:DOID:11561 Degenerative changes to the RETINA due to HYPERTENSION. MESH:D006973|MESH:D012164 C11.768.346|C14.907.489.815 C11.768|C14.907.489 Hypertensive Retinopathies|Retinopathies, Hypertensive|Retinopathy, Hypertensive Cardiovascular disease|Eye disease Hyperthermia MESH:D000084462 An abnormal elevation of body temperature, usually as a result of inability to regulate core body temperature due to non-pathologic factors. MESH:D001832|MESH:D018882 C23.888.119.455|C26.522.750 C23.888.119|C26.522 Hyperpyrexia|Hyperpyrexias|Hyperthermias Signs and symptoms|Wounds and injuries Hyperthermia, Cutaneous, With Headaches And Nausea MESH:C564156 MESH:D005335|MESH:D006261|MESH:D009325 C23.888.119.344.345/C564156|C23.888.592.612.441/C564156|C23.888.821.712/C564156 C23.888.119.344.345|C23.888.592.612.441|C23.888.821.712 Farmer Syndrome Signs and symptoms Hyperthyroidism MESH:D006980 DO:DOID:7998 Hypersecretion of THYROID HORMONES from the THYROID GLAND. Elevated levels of thyroid hormones increase BASAL METABOLIC RATE. MESH:D013959 C19.874.397 C19.874 Hyperthyroid|Hyperthyroidism, Primary|Hyperthyroids|Primary Hyperthyroidism Endocrine system disease Hyperthyroidism, Familial Gestational MESH:C566384 OMIM:603373 MESH:D006980|MESH:D011248 C12.050.703/C566384|C19.874.397/C566384 C12.050.703|C19.874.397 Endocrine system disease|Pregnancy complication Hyperthyroidism, Nonautoimmune MESH:C563786 OMIM:609152 MESH:D006980 C19.874.397/C563786 C19.874.397 Hyperthyroidism, Congenital Nonautoimmune|Hyperthyroidism, Nonautoimmune, Autosomal Dominant|Toxic Thyroid Hyperplasia, Autosomal Dominant Endocrine system disease Hyperthyroxinemia MESH:D006981 DO:DOID:2855 Abnormally elevated THYROXINE level in the BLOOD. MESH:D013959 C19.874.410 C19.874 Hyperthyroxinemias Endocrine system disease Hyperthyroxinemia due to Decreased Peripheral Conversion of T4 MESH:C564122 MESH:D006981 C19.874.410/C564122 C19.874.410 5-Prime-Deiodinase Deficiency, Generalized, Causing Euthyroid Hyperthyroxinemia Endocrine system disease Hyperthyroxinemia, Familial Dysalbuminemic MESH:D050010 OMIM:615999 An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal SERUM ALBUMIN that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and TSH are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the ALB gene on CHROMOSOME 4. MESH:D006981|MESH:D030342 C16.320.427|C19.874.410.249 C16.320|C19.874.410 Dysalbuminemic Hyperthyroxinemia, Familial|EUTHYROID HYPERTHYROXINEMIA 1 HYPERTRIIODOTHYRONINEMIA, FAMILIAL DYSALBUMINEMIC, INCLUDED|Familial Dysalbuminemic Hyperthyroxinemia|FDAH|FDH Endocrine system disease|Genetic disease (inborn) Hypertrichosis MESH:D006983 DO:DOID:420 Excessive hair growth at inappropriate locations, such as on the extremities, the head, and the back. It is caused by genetic or acquired factors, and is an androgen-independent process. This concept does not include HIRSUTISM which is an androgen-dependent excess hair growth in WOMEN and CHILDREN. MESH:D006201 C17.800.329.875 C17.800.329 Hypertrichoses Skin disease Hypertrichosis, anterior cervical MESH:C538390 MESH:D006983 C17.800.329.875/C538390 C17.800.329.875 Anterior cervical hypertrichosis|Hairy throat|Hairy throat syndrome Skin disease Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy MESH:C565492 MESH:D006983|MESH:D015417 C10.500.300/C565492|C10.574.500.495/C565492|C10.668.829.800.300/C565492|C16.131.666.300/C565492|C16.320.400.375/C565492|C17.800.329.875/C565492 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375|C17.800.329.875 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease Hypertrichosis congenital generalized X-linked MESH:C538388 OMIM:307150 MESH:D006983|MESH:D040181 C16.320.322/C538388|C17.800.329.875/C538388 C16.320.322|C17.800.329.875 CGH|CHROMOSOME Xq27.1 INTERCHROMOSOMAL INSERTION SYNDROME|HCG|HTC2|Hypertrichosis, Congenital Generalized|Macias-Flores Garcia-Cruz Rivera syndrome Genetic disease (inborn)|Skin disease Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia MESH:C565016 OMIM:135400 MESH:D002872|MESH:D005351|MESH:D006983 C07.465.525.304/C565016|C07.465.714.258.428.200/C565016|C07.650.525.304/C565016|C16.131.850.525.304/C565016|C17.800.329.875/C565016|C23.550.210.050.500.500/C565016 C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C16.131.850.525.304|C17.800.329.875|C23.550.210.050.500.500 Chromosome 17q24.2-q24.3 Deletion Syndrome|CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME|Fibromatosis, Gingival, with Hypertrichosis|HTC3|HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA|HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA|Microdeletion 17q24.2-q24.3 Syndrome|MICRODUPLICATION 17q24.2-q24.3 SYNDROME Congenital abnormality|Mouth disease|Pathology (process)|Skin disease Hypertriglyceridemia MESH:D015228 A condition of elevated levels of TRIGLYCERIDES in the blood. MESH:D006949 C18.452.584.500.500.851 C18.452.584.500.500 Hypertriglyceridemias Metabolic disease HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE OMIM:614480 MESH:D015228 C18.452.584.500.500.851/614480 C18.452.584.500.500.851 HTGTI Metabolic disease Hypertriglyceridemic Waist MESH:D064250 A screening phenotype consisting of both elevated WAIST CIRCUMFERENCE and elevated fasting TRIGLYCERIDES level. MESH:D012816|MESH:D015228 C18.452.584.500.500.851.875|C23.888.521 C18.452.584.500.500.851|C23.888 Enlarged Waist Elevated Triglycerides|Waist, Hypertriglyceridemic Metabolic disease|Signs and symptoms Hypertrophia Musculorum Vera MESH:C564152 MESH:D006984|MESH:D009135 C05.651/C564152|C10.668.491/C564152|C23.300.775/C564152 C05.651|C10.668.491|C23.300.775 Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Hypertrophic Neuropathy And Cataract MESH:C565490 MESH:D002386|MESH:D010523 C10.668.829/C565490|C11.510.245/C565490 C10.668.829|C11.510.245 Eye disease|Nervous system disease Hypertrophy MESH:D006984 General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA). MESH:D020763 C23.300.775 C23.300 Hypertrophies Pathology (anatomical condition) Hypertrophy, Left Ventricular MESH:D017379 Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality. MESH:D006332 C14.280.195.400|C23.300.775.250.400 C14.280.195|C23.300.775.250 Hypertrophies, Left Ventricular|Left Ventricular Hypertrophies|Left Ventricular Hypertrophy|Ventricular Hypertrophies, Left|Ventricular Hypertrophy, Left Cardiovascular disease|Pathology (anatomical condition) Hypertrophy, Right Ventricular MESH:D017380 Enlargement of the RIGHT VENTRICLE of the heart. This increase in ventricular mass is often attributed to PULMONARY HYPERTENSION and is a contributor to cardiovascular morbidity and mortality. MESH:D006332 C14.280.195.410|C23.300.775.250.401 C14.280.195|C23.300.775.250 Hypertrophies, Right Ventricular|Right Ventricular Hypertrophies|Right Ventricular Hypertrophy|Ventricular Hypertrophies, Right|Ventricular Hypertrophy, Right Cardiovascular disease|Pathology (anatomical condition) Hypertryptophanemia, Familial MESH:C563467 DO:DOID:0111703 MESH:D000592 C16.320.565.100/C563467|C18.452.648.100/C563467 C16.320.565.100|C18.452.648.100 Hypertryptophanemia Genetic disease (inborn)|Metabolic disease Hyperuricemia MESH:D033461 DO:DOID:1920 Excessive URIC ACID or urate in blood as defined by its solubility in plasma at 37 degrees C; greater than 0.42mmol per liter (7.0mg/dL) in men or 0.36mmol per liter (6.0mg/dL) in women. This condition is caused by overproduction of uric acid or impaired renal clearance. Hyperuricemia can be acquired, drug-induced or genetically determined (LESCH-NYHAN SYNDROME). It is associated with HYPERTENSION and GOUT. MESH:D010335 C23.550.449 C23.550 Pathology (process) Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase MESH:C565489 MESH:D002659|MESH:D008607|MESH:D011686|MESH:D033461 C10.597.606.360/C565489|C16.320.565.798/C565489|C18.452.648.798/C565489|C23.550.449/C565489|C23.888.592.604.646/C565489|F03.625.164/C565489|F03.625.539/C565489 C10.597.606.360|C16.320.565.798|C18.452.648.798|C23.550.449|C23.888.592.604.646|F03.625.164|F03.625.539 Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME OMIM:613845 MESH:D000471|MESH:D006976|MESH:D033461|MESH:D051437 C08.381.423/613845|C12.050.351.968.419.780/613845|C12.200.777.419.780/613845|C12.950.419.780/613845|C14.907.489.556/613845|C18.452.076.354/613845|C23.550.449/613845 C08.381.423|C12.050.351.968.419.780|C12.200.777.419.780|C12.950.419.780|C14.907.489.556|C18.452.076.354|C23.550.449 HUPRAS|HUPRA SYNDROME Cardiovascular disease|Metabolic disease|Pathology (process)|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Hyperuricemic Nephropathy, Familial Juvenile 2 MESH:C567760 OMIM:613092 MESH:D000740|MESH:D033461|MESH:D051437 C12.050.351.968.419.780/C567760|C12.200.777.419.780/C567760|C12.950.419.780/C567760|C15.378.071/C567760|C23.550.449/C567760 C12.050.351.968.419.780|C12.200.777.419.780|C12.950.419.780|C15.378.071|C23.550.449 ADTKD4|Early-Onset Hyperuricemia, Anemia, And Progressive Kidney Failure|Familial Juvenile Hyperuricemic Nephropathy 2|Hnfj2|HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2|Ren-Related Kidney Disease|TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 Blood disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 OMIM:614227 DO:DOID:0060062 MESH:D007674|MESH:D033461 C12.050.351.968.419/614227|C12.200.777.419/614227|C12.950.419/614227|C23.550.449/614227 C12.050.351.968.419|C12.200.777.419|C12.950.419|C23.550.449 HNFJ3 Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Hyperventilation MESH:D006985 A pulmonary ventilation rate faster than is metabolically necessary for the exchange of gases. It is the result of an increased frequency of breathing, an increased tidal volume, or a combination of both. It causes an excess intake of oxygen and the blowing off of carbon dioxide. MESH:D012120|MESH:D012818 C08.618.501|C23.888.852.591 C08.618|C23.888.852 Hyperventilations Respiratory tract disease|Signs and symptoms Hypervitaminosis A MESH:D006986 DO:DOID:9972 A symptom complex resulting from ingesting excessive amounts of VITAMIN A. MESH:D009748 C18.654.301 C18.654 Nutrition disorder hyperzincemia and hypercalprotectinemia MESH:C565988 MESH:D008664 C16.320.565.618/C565988|C18.452.648.618/C565988 C16.320.565.618|C18.452.648.618 myeloid-related proteinemia inflammatory syndrome|PAMI syndrome|proline-serine-threonine phosphatase-interacting protein associated myeloid-related proteinemia inflammatory syndrome|PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome Genetic disease (inborn)|Metabolic disease Hyperzincemia with Functional Zinc Depletion MESH:C566595 MESH:D008664 C16.320.565.618/C566595|C18.452.648.618/C566595 C16.320.565.618|C18.452.648.618 Genetic disease (inborn)|Metabolic disease Hypesthesia MESH:D006987 Absent or reduced sensitivity to cutaneous stimulation. MESH:D020886 C10.597.751.791.500|C23.888.592.763.770.500 C10.597.751.791|C23.888.592.763.770 Hypesthesias|Hypesthesias, Tactile|Hypesthesias, Thermal|Hypesthesia, Tactile|Hypesthesia, Thermal|Hypoesthesia|Hypoesthesias|Impaired Sensation|Impaired Sensations|Numbness|Reduced Sensation|Reduced Sensations|Sensation, Impaired|Sensation, Reduced|Sensations, Impaired|Sensations, Reduced|Tactile Hypesthesia|Tactile Hypesthesias|Thermal Hypesthesia|Thermal Hypesthesias Nervous system disease|Signs and symptoms Hyphema MESH:D006988 Bleeding in the anterior chamber of the eye. MESH:D005130 C11.290.484|C23.550.414.756.550 C11.290|C23.550.414.756 Hyphemas Eye disease|Pathology (process) Hypoadiponectinemia MESH:C567258 OMIM:612556 MESH:D008661 C16.320.565/C567258|C18.452.648/C567258 C16.320.565|C18.452.648 Adiponectin Deficiency|ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1|ADIPQTL1|ADPOD|HYPOADIPONECTINEMIA Genetic disease (inborn)|Metabolic disease Hypoadrenocorticism, Familial MESH:D000075262 OMIM:300200 Hereditary forms of Addison disease that may exhibit autosomal recessive or X-linked inheritance. They are characterized by severe neurological symptoms, APNEA; and death in infancy. OMIM: 240200 MESH:D000224 C19.053.500.263.500 C19.053.500.263 Addison Disease, X Linked|Addison Disease, X-Linked|Adrenal Hypoplasia, Congenital|Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism|Adrenal Hypoplasia, X-linked|AHC|AHCH|AHC WITH HHG|AHC with Isolated Gonadotropin Deficiency|AHX|Complex Glycerol Kinase Deficiency|Congenital Adrenal Hypoplasia|Congenital Adrenal Hypoplasias|Cytomegalic Adrenocortical Hypoplasia|Cytomegalic Adrenocortical Hypoplasias|Familial Hypoadrenocorticism|Familial Hypoadrenocorticisms|Familial X linked Addison Disease|Familial X-linked Addison Disease|Hypoadrenocorticisms, Familial|Hypoplasia, Congenital Adrenal|X-Linked Addison Disease|X linked Adrenal Hypoplasia|X-linked Adrenal Hypoplasia|X linked Congenital Adrenal Hypoplasia|X-linked Congenital Adrenal Hypoplasia|Xp21 Contiguous Gene Deletion Syndrome Endocrine system disease Hypoalbuminemia MESH:D034141 OMIM:616000 A condition in which albumin level in blood (SERUM ALBUMIN) is below the normal range. Hypoalbuminemia may be due to decreased hepatic albumin synthesis, increased albumin catabolism, altered albumin distribution, or albumin loss through the urine (ALBUMINURIA). MESH:D007019 C15.378.147.607.500 C15.378.147.607 ANALBA|ANALBUMINEMIA Blood disease Hypoaldosteronism MESH:D006994 A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS. MESH:D000309 C19.053.500.480 C19.053.500 Acidosis, Renal Tubular Type IV|Hypoaldosteronism, Hyporeninemic|Hyporeninemic Hypoaldosteronism|Renal Tubular Acidosis, Type IV|Type IV Renal Tubular Acidosis Endocrine system disease Hypoalphalipoproteinemias MESH:D052456 OMIM:604091 Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS. MESH:D007009 C16.320.565.398.500.330|C18.452.584.500.875.330|C18.452.584.563.500.330|C18.452.648.398.500.330 C16.320.565.398.500|C18.452.584.500.875|C18.452.584.563.500|C18.452.648.398.500 alpha Lipoprotein Deficiency Disease, Familial|alpha-Lipoprotein Deficiency Disease, Familial|alpha Lipoproteinemia, Hypo|Familial alpha Lipoprotein Deficiency Disease|Familial alpha-Lipoprotein Deficiency Disease|FAMILIAL HDL DEFICIENCY|Familial High Density Lipoprotein Deficiency Disease|Familial High-Density Lipoprotein Deficiency Disease|Familial Hypoalphalipoproteinemia|Familial Hypoalphalipoproteinemias|FHA|FHD|HDLC|HDL Cholesterol, Low Serum|HDLD|HDL Lipoprotein Deficiency Disease|HIGH DENSITY LIPOPROTEIN DEFICIENCY|High Density Lipoprotein Deficiency Disease, Familial|High-Density Lipoprotein Deficiency Disease, Familial|Hypoalphalipoproteinemia|Hypo alpha Lipoproteinemia|Hypoalphalipoproteinemia, Familial|Hypoalphalipoproteinemia, Primary|HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1|Hypo alpha Lipoproteinemias|Hypoalphalipoproteinemias, Familial|Hypoalphalipoproteinemias, Primary|Lipoprotein Deficiency Disease, HDL, Familial|Lipoproteinemia, Hypo alpha|Lipoproteinemias, Hypo alpha|Primary Hypoalphalipoproteinemias Genetic disease (inborn)|Metabolic disease Hypobetalipoproteinemia, Familial, 1 MESH:C566267 OMIM:615558 MESH:D052476 C18.452.584.500.875.440.750/C566267|C18.452.584.563.497/C566267 C18.452.584.500.875.440.750|C18.452.584.563.497 Acanthocytosis With Hypobetalipoproteinemia|FHBL|FHBL1|HYPOBETALIPOPROTEINEMIA, FAMILIAL|Hypobetalipoproteinemia, Normotriglyceridemic|HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4, INCLUDED|LDLCQ4, INCLUDED Metabolic disease Hypobetalipoproteinemia, Familial, 2 MESH:C565732 OMIM:605019 MESH:D006995 C16.320.565.398.500.440/C565732|C18.452.584.500.875.440/C565732|C18.452.584.563.500.440/C565732|C18.452.648.398.500.440/C565732 C16.320.565.398.500.440|C18.452.584.500.875.440|C18.452.584.563.500.440|C18.452.648.398.500.440 Fhbl2|HYPOLIPIDEMIA, FAMILIAL, COMBINED Genetic disease (inborn)|Metabolic disease Hypobetalipoproteinemia, Familial, Apolipoprotein B MESH:D052476 An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption. MESH:D006995|MESH:D008052 C18.452.584.500.875.440.750|C18.452.584.563.497 C18.452.584.500.875.440|C18.452.584.563 Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type|Apolipoprotein B Deficiencies|Apolipoprotein B Deficiency|Apolipoprotein B Deficiency Disease|Hypobetalipoproteinemia, Familial, Apo B Metabolic disease Hypobetalipoproteinemias MESH:D006995 DO:DOID:1390 Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption. MESH:D007009 C16.320.565.398.500.440|C18.452.584.500.875.440|C18.452.584.563.500.440|C18.452.648.398.500.440 C16.320.565.398.500|C18.452.584.500.875|C18.452.584.563.500|C18.452.648.398.500 Familial Hypobetalipoproteinemia|Hypobetalipoproteinemia|Hypo beta Lipoproteinemia|Hypo beta Lipoproteinemias Genetic disease (inborn)|Metabolic disease Hypocalcemia MESH:D006996 Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed) MESH:D002128|MESH:D014883 C18.452.174.509|C18.452.950.509 C18.452.174|C18.452.950 Hypocalcemias Metabolic disease Hypocalcemia, Autosomal Dominant, with Bartter Syndrome MESH:C563374 OMIM:601198 MESH:D001477|MESH:D006996 C12.050.351.968.419.815.279/C563374|C12.200.777.419.815.279/C563374|C12.950.419.815.279/C563374|C18.452.174.509/C563374|C18.452.950.509/C563374|C19.053.800.604.249/C563374 C12.050.351.968.419.815.279|C12.200.777.419.815.279|C12.950.419.815.279|C18.452.174.509|C18.452.950.509|C19.053.800.604.249 HYPERCALCIURIC HYPOCALCEMIA|HYPOC1|HYPOCALCEMIA, AUTOSOMAL DOMINANT 1|HYPOCALCEMIA, FAMILIAL HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME, INCLUDED Endocrine system disease|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Hypocalciuric Hypercalcemia, Acquired MESH:C564151 MESH:D006934 C18.452.174.451/C564151|C18.452.950.340/C564151 C18.452.174.451|C18.452.950.340 Metabolic disease Hypocalciuric hypercalcemia, familial, type 1 MESH:C537145 OMIM:145980 MESH:D006934 C18.452.174.451/C537145|C18.452.950.340/C537145 C18.452.174.451|C18.452.950.340 Familial Benign Hypercalcemia 1|Familial benign hypercalcemia type 1|Familial hypocalciuric hypercalcemia|FBH1|FHH|FHH1|HHC|HHC1|Hypercalcemia, Familial Benign|HYPERCALCEMIA, FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA, ACQUIRED, INCLUDED|Hypercalcemia, familial benign type 1|Hypocalciuric Hypercalcemia, Familial, Type I Metabolic disease Hypocalciuric hypercalcemia, familial, type 2 MESH:C537146 OMIM:145981 MESH:D006934 C18.452.174.451/C537146|C18.452.950.340/C537146 C18.452.174.451|C18.452.950.340 Familial benign hypercalcemia, type 2|Familial Benign Hypercalcemia, Type II|FBH2|HHC2|Hypercalcemia, familial benign type 2|Hypercalcemia, Familial Benign, Type II|Hypocalciuric Hypercalcemia, Familial, Type II Metabolic disease Hypocapnia MESH:D016857 Clinical manifestation consisting of a deficiency of carbon dioxide in arterial blood. MESH:D012818 C23.888.852.614 C23.888.852 Hypocapnias Signs and symptoms Hypochondriasis MESH:D006998 DO:DOID:12883 Preoccupation with the fear of having, or the idea that one has, a serious disease based on the person's misinterpretation of bodily symptoms. (APA, DSM-IV) MESH:D013001 F03.875.450 F03.875 Hypochondriacal Neuroses|Hypochondriacal Neurosis|Neurosis, Hypochondriacal Mental disorder Hypochondrogenesis MESH:C563007 DO:DOID:0080044 MESH:D010009 C05.116.099.708/C563007|C16.320.728/C563007 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Hypochondroplasia MESH:C562937 DO:DOID:0080041|OMIM:146000 MESH:D004392|MESH:D008141|MESH:D017880 C05.116.099.343/C562937|C05.116.900.800.750/C562937|C05.660.585/C562937|C16.131.621.585/C562937|C16.320.240/C562937|C19.297/C562937 C05.116.099.343|C05.116.900.800.750|C05.660.585|C16.131.621.585|C16.320.240|C19.297 HCH|Hypochondrodysplasia Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Hypodermyiasis MESH:D007000 DO:DOID:12926 Infestation with larvae of the genus Hypoderma, the warble fly. MESH:D009198 C01.610.858.211.503.398 C01.610.858.211.503 Hypodermyiases Parasitic disease Hypodontia Oligodontia with Orofacial Cleft MESH:C566995 MESH:D000848|MESH:D002971|MESH:D002972 C05.500.460.185/C566995|C05.660.207.540.460.185/C566995|C07.320.440.185/C566995|C07.465.409.225/C566995|C07.465.525.164/C566995|C07.465.525.185/C566995|C07.650.500.460.185/C566995|C07.650.525.164/C566995|C07.650.525.185/C566995|C07.650.800.100/C566995|C07.793.700.100/C566995|C16.131.621.207.540.460.185/C566995|C16.131.850.500.460.185/C566995|C16.131.850.525.164/C566995|C16.131.850.525.185/C566995|C16.131.850.800.100/C566995 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C07.650.800.100|C07.793.700.100|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.131.850.800.100 Congenital abnormality|Mouth disease|Musculoskeletal disease Hypodontia, X-linked MESH:C537148 MESH:D053358 C16.131.077.350.198/C537148|C16.131.831.350.198/C537148|C16.320.322.116/C537148|C16.320.850.250.198/C537148|C17.800.804.350.198/C537148|C17.800.827.250.198/C537148 C16.131.077.350.198|C16.131.831.350.198|C16.320.322.116|C16.320.850.250.198|C17.800.804.350.198|C17.800.827.250.198 X-linked hypodontia Congenital abnormality|Genetic disease (inborn)|Skin disease Hypodysfibrinogenemia, Congenital MESH:C565970 MESH:D000347 C15.378.100.100.056/C565970|C15.378.100.141.072/C565970|C15.378.463.067/C565970|C16.320.099.056/C565970 C15.378.100.100.056|C15.378.100.141.072|C15.378.463.067|C16.320.099.056 Blood disease|Genetic disease (inborn) Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked MESH:C537149 OMIM:307200 MESH:D000361|MESH:D004393|MESH:D040181 C05.116.099.343.445/C537149|C05.116.132.358/C537149|C10.228.140.617.738.300.300/C537149|C15.378.147.142/C537149|C15.604.515.032/C537149|C16.320.322/C537149|C19.297.312/C537149|C19.700.482.311/C537149|C20.673.088/C537149 C05.116.099.343.445|C05.116.132.358|C10.228.140.617.738.300.300|C15.378.147.142|C15.604.515.032|C16.320.322|C19.297.312|C19.700.482.311|C20.673.088 Agammaglobulinemia and isolated growth hormone deficiency, X-linked|Fleisher syndrome|Growth Hormone Deficiency with Hypogammaglobulinemia|GROWTH HORMONE DEFICIENCY WITH HYPOGAMMAGLOBULINEMIA, X-LINKED|HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED|IGHD3|IGHD III|Isolated growth hormone deficiency, type 3|Isolated Growth Hormone Deficiency, Type III|ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA|Nanism due to growth hormone isolated deficiency with X-linked hypogammaglobulinemia Blood disease|Endocrine system disease|Genetic disease (inborn)|Immune system disease|Lymphatic disease|Musculoskeletal disease|Nervous system disease Hypogammaglobulinemia, X-Linked MESH:C562478 MESH:D000361|MESH:D040181 C15.378.147.142/C562478|C15.604.515.032/C562478|C16.320.322/C562478|C20.673.088/C562478 C15.378.147.142|C15.604.515.032|C16.320.322|C20.673.088 Blood disease|Genetic disease (inborn)|Immune system disease|Lymphatic disease Hypoglobulinemia and Absent B Cells MESH:C565765 MESH:D001796|MESH:D007153 C15.378.147/C565765|C20.673/C565765 C15.378.147|C20.673 Blood disease|Immune system disease Hypoglossal Nerve Diseases MESH:D020437 DO:DOID:13814 Diseases of the twelfth cranial (hypoglossal) nerve or nuclei. The nuclei and fascicles of the nerve are located in the medulla, and the nerve exits the skull via the hypoglossal foramen and innervates the muscles of the tongue. Lower brain stem diseases, including ischemia and MOTOR NEURON DISEASES may affect the nuclei or nerve fascicles. The nerve may also be injured by diseases of the posterior fossa or skull base. Clinical manifestations include unilateral weakness of tongue musculature and lingual dysarthria, with deviation of the tongue towards the side of weakness upon attempted protrusion. MESH:D003389 C10.292.525 C10.292 Cranial Nerve XII Diseases|Cranial Nerve XII Disorders|Hypoglossal Nerve Disease|Hypoglossal Nerve Palsies|Hypoglossal Nerve Palsy|Hypoglossal Neuralgia|Hypoglossal Neuralgias|Hypoglossal Neuropathies|Hypoglossal Neuropathy|Neuralgia, Hypoglossal|Neuralgias, Hypoglossal|Neuropathies, Hypoglossal|Neuropathy, Hypoglossal|Palsies, Hypoglossal Nerve|Palsy, Hypoglossal Nerve|Twelfth Cranial Nerve Diseases|Twelfth Cranial Nerve Disorder Nervous system disease Hypoglossal Nerve Injuries MESH:D061228 Traumatic injuries to the HYPOGLOSSAL NERVE. MESH:D020209|MESH:D020437 C10.292.200.562|C10.292.525.500|C10.900.300.218.362|C26.915.300.400.387 C10.292.200|C10.292.525|C10.900.300.218|C26.915.300.400 Avulsion, Hypoglossal Nerve|Avulsions, Hypoglossal Nerve|Contusion, Hypoglossal Nerve|Contusions, Hypoglossal Nerve|Cranial Nerve XII Injury|Hypoglossal Nerve Avulsion|Hypoglossal Nerve Avulsions|Hypoglossal Nerve Contusion|Hypoglossal Nerve Contusions|Hypoglossal Nerve Injury|Hypoglossal Nerve Transection|Hypoglossal Nerve Transections|Hypoglossal Nerve Trauma|Hypoglossal Nerve Traumas|Hypoglossal Neuropathies, Traumatic|Hypoglossal Neuropathy, Traumatic|Injuries, Hypoglossal Nerve|Injury, Cranial Nerve XII|Injury, Hypoglossal Nerve|Injury, Twelfth Cranial Nerve|Nerve Avulsion, Hypoglossal|Nerve Avulsions, Hypoglossal|Nerve Contusion, Hypoglossal|Nerve Contusions, Hypoglossal|Nerve Injuries, Hypoglossal|Nerve Injury, Hypoglossal|Nerve Transection, Hypoglossal|Nerve Transections, Hypoglossal|Nerve Trauma, Hypoglossal|Nerve Traumas, Hypoglossal|Neuropathies, Traumatic Hypoglossal|Neuropathy, Traumatic Hypoglossal|Palsies, Traumatic Twelfth-Nerve|Palsy, Traumatic Twelfth-Nerve|Transection, Hypoglossal Nerve|Transections, Hypoglossal Nerve|Trauma, Hypoglossal Nerve|Traumas, Hypoglossal Nerve|Traumas, Twelfth-Nerve|Traumatic Hypoglossal Neuropathies|Traumatic Hypoglossal Neuropathy|Traumatic Twelfth-Nerve Palsies|Traumatic Twelfth Nerve Palsy|Traumatic Twelfth-Nerve Palsy|Trauma, Twelfth-Nerve|Twelfth Cranial Nerve Injuries|Twelfth Cranial Nerve Injury|Twelfth-Nerve Palsies, Traumatic|Twelfth Nerve Palsy, Traumatic|Twelfth-Nerve Palsy, Traumatic|Twelfth Nerve Trauma|Twelfth-Nerve Trauma|Twelfth-Nerve Traumas Nervous system disease|Wounds and injuries Hypoglossia-Hypodactylia MESH:C566308 MESH:D007569|MESH:D014071|MESH:D017880 C05.500.460/C566308|C05.660.207.540.460/C566308|C05.660.585/C566308|C07.320.440/C566308|C07.650.500.460/C566308|C07.650.800/C566308|C07.793.700/C566308|C16.131.621.207.540.460/C566308|C16.131.621.585/C566308|C16.131.850.500.460/C566308|C16.131.850.800/C566308 C05.500.460|C05.660.207.540.460|C05.660.585|C07.320.440|C07.650.500.460|C07.650.800|C07.793.700|C16.131.621.207.540.460|C16.131.621.585|C16.131.850.500.460|C16.131.850.800 Aglossia-Adactylia|Oromandibular Limb Hypoplasia|Peromelia with Micrognathism Congenital abnormality|Mouth disease|Musculoskeletal disease Hypoglossia, Isolated MESH:C567568 MESH:D012120|MESH:D018640 C07.650/C567568|C08.618/C567568|C16.131.850/C567568 C07.650|C08.618|C16.131.850 Congenital abnormality|Mouth disease|Respiratory tract disease Hypoglossia With Situs Inversus MESH:C567567 MESH:D012120|MESH:D012857|MESH:D018640 C07.650/C567567|C08.618/C567567|C16.131.810/C567567|C16.131.850/C567567 C07.650|C08.618|C16.131.810|C16.131.850 Congenital abnormality|Mouth disease|Respiratory tract disease Hypoglycemia MESH:D007003 DO:DOID:9993 A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH. MESH:D044882 C18.452.394.984 C18.452.394 Fasting Hypoglycemia|Hypoglycemia, Fasting|Hypoglycemia, Postabsorptive|Hypoglycemia, Postprandial|Hypoglycemia, Reactive|Postabsorptive Hypoglycemia|Postprandial Hypoglycemia|Reactive Hypoglycemia Metabolic disease Hypoglycemia, leucine-induced MESH:C537150 OMIM:240800 MESH:D007003 C18.452.394.984/C537150 C18.452.394.984 Leucine-sensitive hypoglycemia of infancy|LIH Metabolic disease Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica MESH:C565484 MESH:D007003|MESH:D007232 C16.614/C565484|C18.452.394.984/C565484 C16.614|C18.452.394.984 Infant-newborn disease|Metabolic disease hypoglycemic encephalopathy MESH:C000721848 MESH:D001927|MESH:D007003 C10.228.140/C000721848|C18.452.394.984/C000721848 C10.228.140|C18.452.394.984 diabetic encephalopathy Metabolic disease|Nervous system disease Hypogonadism MESH:D007006 DO:DOID:1924 Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism). MESH:D006058 C19.391.482 C19.391 Hypergonadotropic Hypogonadism|Hypogonadism, Hypergonadotropic|Hypogonadism, Hypogonadotropic|Hypogonadism, Isolated Hypogonadotropic|Hypogonadotropic Hypogonadism Endocrine system disease Hypogonadism and Testicular Atrophy MESH:C567108 MESH:D007006 C19.391.482/C567108 C19.391.482 Endocrine system disease Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies MESH:C564406 MESH:D007006|MESH:D008607 C10.597.606.360/C564406|C19.391.482/C564406|C23.888.592.604.646/C564406|F03.625.539/C564406 C10.597.606.360|C19.391.482|C23.888.592.604.646|F03.625.539 Endocrine system disease|Mental disorder|Nervous system disease|Signs and symptoms Hypogonadism with Low-Grade Mental Deficiency and Microcephaly MESH:C565482 MESH:D007006|MESH:D008607|MESH:D008831 C05.660.207.620/C565482|C10.500.507.400.500/C565482|C10.597.606.360/C565482|C16.131.621.207.620/C565482|C16.131.666.507.400.500/C565482|C19.391.482/C565482|C23.888.592.604.646/C565482|F03.625.539/C565482 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C19.391.482|C23.888.592.604.646|F03.625.539 Congenital abnormality|Endocrine system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA OMIM:614839 DO:DOID:0090089 MESH:D000857|MESH:D007006 C10.597.751.600/614839|C19.391.482/614839|C23.888.592.763.550/614839 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH10 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA OMIM:614840 DO:DOID:0090071 MESH:D000857|MESH:D007006 C10.597.751.600/614840|C19.391.482/614840|C23.888.592.763.550/614840 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH11 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA OMIM:614842 DO:DOID:0090073 MESH:D000857|MESH:D007006 C10.597.751.600/614842|C19.391.482/614842|C23.888.592.763.550/614842 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH13 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA OMIM:614858 DO:DOID:0090087 MESH:D000857|MESH:D007006 C10.597.751.600/614858|C19.391.482/614858|C23.888.592.763.550/614858 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH14 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA OMIM:614880 DO:DOID:0090075 MESH:D000857|MESH:D007006 C10.597.751.600/614880|C19.391.482/614880|C23.888.592.763.550/614880 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH15 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA OMIM:614897 DO:DOID:0090080 MESH:D000857|MESH:D007006 C10.597.751.600/614897|C19.391.482/614897|C23.888.592.763.550/614897 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH16 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA OMIM:615266 DO:DOID:0090079 MESH:D000857|MESH:D007006 C10.597.751.600/615266|C19.391.482/615266|C23.888.592.763.550/615266 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH17 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA OMIM:615267 DO:DOID:0090076 MESH:D000857|MESH:D007006 C10.597.751.600/615267|C19.391.482/615267|C23.888.592.763.550/615267 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH18 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA OMIM:615269 DO:DOID:0090090 MESH:D000857|MESH:D007006 C10.597.751.600/615269|C19.391.482/615269|C23.888.592.763.550/615269 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH19 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA OMIM:615270 DO:DOID:0090082 MESH:D000857|MESH:D007006 C10.597.751.600/615270|C19.391.482/615270|C23.888.592.763.550/615270 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH20 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA OMIM:615271 DO:DOID:0090093 MESH:D000857|MESH:D007006 C10.597.751.600/615271|C19.391.482/615271|C23.888.592.763.550/615271 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH21 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA OMIM:616030 DO:DOID:0090081 MESH:D000857|MESH:D007006 C10.597.751.600/616030|C19.391.482/616030|C23.888.592.763.550/616030 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH22 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA OMIM:614837 DO:DOID:0090074 MESH:D000857|MESH:D007006 C10.597.751.600/614837|C19.391.482/614837|C23.888.592.763.550/614837 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH8 Endocrine system disease|Nervous system disease|Signs and symptoms HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA OMIM:614838 DO:DOID:0090085 MESH:D000857|MESH:D007006 C10.597.751.600/614838|C19.391.482/614838|C23.888.592.763.550/614838 C10.597.751.600|C19.391.482|C23.888.592.763.550 HH9 Endocrine system disease|Nervous system disease|Signs and symptoms Hypogonadotropic hypogonadism and anosmia, autosomal dominant MESH:C538534 MESH:D017436 C12.050.351.875.253.096.750/C538534|C12.200.706.316.096.750/C538534|C12.800.316.096.750/C538534|C16.131.939.316.096.750/C538534|C16.320.467/C538534|C19.391.119.096.750/C538534|C19.391.482.600/C538534 C12.050.351.875.253.096.750|C12.200.706.316.096.750|C12.800.316.096.750|C16.131.939.316.096.750|C16.320.467|C19.391.119.096.750|C19.391.482.600 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Hypohidrosis MESH:D007007 DO:DOID:11155|DO:DOID:11156 Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions. MESH:D013543 C17.800.946.370 C17.800.946 Anhidrosis Skin disease Hypohidrosis with Abnormal Palmar Dermal Ridges MESH:C565481 MESH:D007007|MESH:D012868 C16.131.831/C565481|C17.800.804/C565481|C17.800.946.370/C565481 C16.131.831|C17.800.804|C17.800.946.370 Sweat Gland Hypoplasia Congenital abnormality|Skin disease HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY OMIM:240900 DO:DOID:0112263 MESH:C563014|MESH:D006946|MESH:D007003 C18.452.394.968/240900|C18.452.394.984/240900|C23.300.505/C563014/240900|C23.550.444/C563014/240900 C18.452.394.968|C18.452.394.984|C23.300.505/C563014|C23.550.444/C563014 HIHGHH Metabolic disease|Pathology (anatomical condition)|Pathology (process) Hypokalemia MESH:D007008 Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed) MESH:D014883 C18.452.950.565 C18.452.950 Hypokalemias|Hypopotassemia|Hypopotassemias Metabolic disease Hypokalemia, Familial MESH:C562654 MESH:D007008|MESH:D008661 C16.320.565/C562654|C18.452.648/C562654|C18.452.950.565/C562654 C16.320.565|C18.452.648|C18.452.950.565 Gullner Syndrome|Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy Genetic disease (inborn)|Metabolic disease Hypokalemic Periodic Paralysis MESH:D020514 DO:DOID:14452 An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483) MESH:D010245 C05.651.701.450|C10.668.491.650.450|C16.320.565.618.711.550|C18.452.648.618.711.550 C05.651.701|C10.668.491.650|C16.320.565.618.711|C18.452.648.618.711 Familial Hypokalemic Periodic Paralysis|HOKPP|Hypokalemic Periodic Paralysis, Familial|HYPOKPP|HYPOPP|Paralysis, Hypokalemic Periodic|Periodic Paralysis Hypokalemic|Periodic Paralysis, Hypokalemic|Periodic Paralysis- Hypokalemic|Periodic Paralysis- Hypokalemics|Primary Hypokalemic Periodic Paralysis|Westphall Disease Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 OMIM:170400 DO:DOID:14452 MESH:D020514 C05.651.701.450/170400|C10.668.491.650.450/170400|C16.320.565.618.711.550/170400|C18.452.648.618.711.550/170400 C05.651.701.450|C10.668.491.650.450|C16.320.565.618.711.550|C18.452.648.618.711.550 HOKPP|HOKPP1|HYPOKALEMIC PERIODIC PARALYSIS Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Hypokalemic Periodic Paralysis, Type 2 MESH:C567635 OMIM:613345 MESH:D020514 C05.651.701.450/C567635|C10.668.491.650.450/C567635|C16.320.565.618.711.550/C567635|C18.452.648.618.711.550/C567635 C05.651.701.450|C10.668.491.650.450|C16.320.565.618.711.550|C18.452.648.618.711.550 HOKPP2 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Hypokinesia MESH:D018476 Slow or diminished movement of body musculature. It may be associated with BASAL GANGLIA DISEASES; MENTAL DISORDERS; prolonged inactivity due to illness; and other conditions. MESH:D020820 C10.597.350.400|C23.888.592.350.400 C10.597.350|C23.888.592.350 Antiorthostatic Hypokinesia|Antiorthostatic Hypokinesias|Bradykinesia|Bradykinesias|Hypodynamia|Hypokinesia, Antiorthostatic|Hypokinesias, Antiorthostatic Nervous system disease|Signs and symptoms Hypolipoproteinemias MESH:D007009 DO:DOID:1387 Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins). MESH:D008052|MESH:D050171 C16.320.565.398.500|C18.452.584.500.875|C18.452.584.563.500|C18.452.648.398.500 C16.320.565.398|C18.452.584.500|C18.452.584.563|C18.452.648.398 Hypolipoproteinemia|Hypoprebetalipoproteinemia Genetic disease (inborn)|Metabolic disease Hypomagnesemia 1, Intestinal MESH:C566593 OMIM:602014 MESH:D006996|MESH:D008275 C18.452.174.509/C566593|C18.452.950.509/C566593|C18.654.521.500.439/C566593 C18.452.174.509|C18.452.950.509|C18.654.521.500.439 HOMG|HOMG1|HSH|Hypomagnesemia, Intestinal, with Secondary Hypocalcemia|Hypomagnesemia with Secondary Hypocalcemia|HYPOMAGNESEMIC TETANY Metabolic disease|Nutrition disorder Hypomagnesemia 2, renal MESH:C537152 OMIM:154020 MESH:D015499 C12.050.351.968.419.815/C537152|C12.200.777.419.815/C537152|C12.950.419.815/C537152|C16.320.565.893/C537152|C16.320.831/C537152|C18.452.648.893/C537152 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.565.893|C16.320.831|C18.452.648.893 HOMG2|Magnesium loss, isolated renal|Magnesium wasting, renal Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Hypomagnesemia 4, Renal MESH:C567127 OMIM:611718 MESH:D015499 C12.050.351.968.419.815/C567127|C12.200.777.419.815/C567127|C12.950.419.815/C567127|C16.320.565.893/C567127|C16.320.831/C567127|C18.452.648.893/C567127 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.565.893|C16.320.831|C18.452.648.893 HOMG4|Hypomagnesemia, Renal, Normocalciuric Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Hypomagnesemia 5, Renal, with Ocular Involvement MESH:C565423 OMIM:248190 MESH:D015499|MESH:D015785 C11.270/C565423|C12.050.351.968.419.815/C565423|C12.200.777.419.815/C565423|C12.950.419.815/C565423|C16.320.290/C565423|C16.320.565.893/C565423|C16.320.831/C565423|C18.452.648.893/C565423 C11.270|C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.290|C16.320.565.893|C16.320.831|C18.452.648.893 FHHNC WITH SEVERE OCULAR INVOLVEMENT|HOMG5|HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT|Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement|Hypomagnesemia, Renal, with Ocular Involvement|Macular Coloboma, Bilateral, with Hypercalciuria Eye disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) HYPOMAGNESEMIA 6, RENAL OMIM:613882 DO:DOID:0060884 MESH:D015499 C12.050.351.968.419.815/613882|C12.200.777.419.815/613882|C12.950.419.815/613882|C16.320.565.893/613882|C16.320.831/613882|C18.452.648.893/613882 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.565.893|C16.320.831|C18.452.648.893 HOMG6 Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial MESH:C564024 MESH:D006937|MESH:D006973|MESH:D015499 C12.050.351.968.419.815/C564024|C12.200.777.419.815/C564024|C12.950.419.815/C564024|C14.907.489/C564024|C16.320.565.893/C564024|C16.320.831/C564024|C18.452.584.500.500.396/C564024|C18.452.648.893/C564024 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C14.907.489|C16.320.565.893|C16.320.831|C18.452.584.500.500.396|C18.452.648.893 Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Hypomagnesemia primary MESH:C537153 OMIM:248250 MESH:D009397|MESH:D015499|MESH:D053565 C12.050.351.968.419.590/C537153|C12.050.351.968.419.815/C537153|C12.200.777.419.590/C537153|C12.200.777.419.815/C537153|C12.950.419.590/C537153|C12.950.419.815/C537153|C16.320.565.893/C537153|C16.320.831/C537153|C18.452.174.130.560/C537153|C18.452.648.893/C537153|C23.888.942.337/C537153 C12.050.351.968.419.590|C12.050.351.968.419.815|C12.200.777.419.590|C12.200.777.419.815|C12.950.419.590|C12.950.419.815|C16.320.565.893|C16.320.831|C18.452.174.130.560|C18.452.648.893|C23.888.942.337 HOMG3|Hypomagnesemia 3, Renal|Hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis|HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING, INCLUDED|Hypomagnesemia, isolated renal|Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium|Magnesium, defect in renal tubular transport of Genetic disease (inborn)|Metabolic disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 1 OMIM:616418 MESH:D008607|MESH:D012640|MESH:D015499 C10.597.606.360/616418|C10.597.742/616418|C12.050.351.968.419.815/616418|C12.200.777.419.815/616418|C12.950.419.815/616418|C16.320.565.893/616418|C16.320.831/616418|C18.452.648.893/616418|C23.888.592.604.646/616418|C23.888.592.742/616418|F03.625.539/616418 C10.597.606.360|C10.597.742|C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.565.893|C16.320.831|C18.452.648.893|C23.888.592.604.646|C23.888.592.742|F03.625.539 HOMGSMR|HOMGSMR1|HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Hypomandibular faciocranial dysostosis MESH:C537154 MESH:D003394 C05.116.099.370.231/C537154|C05.660.207.231/C537154|C16.131.621.207.231/C537154 C05.116.099.370.231|C05.660.207.231|C16.131.621.207.231 Congenital abnormality|Musculoskeletal disease HYPOMELANOSIS OF ITO OMIM:300337 DO:DOID:3156 MESH:D007184|MESH:D017496 C16.131.077.445/300337|C16.131.831.580/300337|C16.320.850.420/300337|C17.800.621.440/300337|C17.800.621.497/300337|C17.800.804.580/300337|C17.800.827.420/300337 C16.131.077.445|C16.131.831.580|C16.320.850.420|C17.800.621.440|C17.800.621.497|C17.800.804.580|C17.800.827.420 HMI|INCONTINENTIA PIGMENTI ACHROMIANS|INCONTINENTIA PIGMENTI, TYPE I, FORMERLY|IP1, FORMERLY|IPA|ITO|ITO HYPOMELANOSIS Congenital abnormality|Genetic disease (inborn)|Skin disease Hypomelia mullerian duct anomalies MESH:C537155 MESH:D000015|MESH:D038062 C05.660.585.988/C537155|C16.131.077/C537155|C16.131.621.585.988/C537155 C05.660.585.988|C16.131.077|C16.131.621.585.988 Hypomelia with Mullerian Duct Anomalies|Limb uterus syndrome|Limb-Uterus Syndrome|Severe upper limb hypoplasia and Mullerian duct anomalies Congenital abnormality|Musculoskeletal disease Hypomyelination, Global Cerebral MESH:C567847 DO:DOID:0080349|OMIM:612949 MESH:D011596|MESH:D020279|MESH:D028361 C10.228.140.163.100.362/C567847|C10.228.140.695.625/C567847|C10.314.400/C567847|C10.574.500.490/C567847|C10.597.606.881/C567847|C16.320.400.367/C567847|C16.320.565.189.362/C567847|C18.452.132.100.362/C567847|C18.452.648.189.362/C567847|C18.452.660/C567847|C23.888.592.604.882/C567847 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C10.597.606.881|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362|C18.452.660|C23.888.592.604.882 AGC1 Deficiency|Aspartate-Glutamate Carrier 1 Deficiency|DEE39|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 WITH LEUKODYSTROPHY|EIEE39|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39|HYPOMYELINATION, GLOBAL CEREBRAL Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY OMIM:615281 MESH:D010264|MESH:D056784 C10.228.140.695/615281|C10.597.622.669/615281|C23.888.592.636.637/615281 C10.228.140.695|C10.597.622.669|C23.888.592.636.637 ASPARTYL-tRNA SYNTHETASE DEFICIENCY|HBSL Nervous system disease|Signs and symptoms Hyponatremia MESH:D007010 Deficiency of sodium in the blood; salt depletion. (Dorland, 27th ed) MESH:D014883 C18.452.950.620 C18.452.950 Hyponatremias Metabolic disease Hypoparathyroidism MESH:D007011 DO:DOID:11199 A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone. MESH:D010279 C19.642.482 C19.642 Hypoparathyroidism, Idiopathic|Idiopathic Hypoparathyroidism Endocrine system disease Hypoparathyroidism, Autosomal Recessive MESH:C564148 MESH:D007011 C19.642.482/C564148 C19.642.482 Endocrine system disease Hypoparathyroidism familial isolated MESH:C537156 OMIM:146200 MESH:D007011 C19.642.482/C537156 C19.642.482 FIH1|Hypoparathyroidism, Familial Isolated|HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 Endocrine system disease Hypoparathyroidism-retardation-dysmorphism syndrome MESH:C537157 DO:DOID:0060348|OMIM:241410 MESH:D000015|MESH:D006130|MESH:D007011|MESH:D008607|MESH:D010009|MESH:D012640 C05.116.099.708/C537157|C10.597.606.360/C537157|C10.597.742/C537157|C16.131.077/C537157|C16.320.728/C537157|C19.642.482/C537157|C23.550.393/C537157|C23.888.592.604.646/C537157|C23.888.592.742/C537157|F03.625.539/C537157 C05.116.099.708|C10.597.606.360|C10.597.742|C16.131.077|C16.320.728|C19.642.482|C23.550.393|C23.888.592.604.646|C23.888.592.742|F03.625.539 HRDS|HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY|Hypoparathyroidism with short stature, mental retardation, and seizures|Sanjad-Sakati syndrome Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Hypoparathyroidism, X-Linked MESH:C562782 OMIM:307700 MESH:D007011|MESH:D040181 C16.320.322/C562782|C19.642.482/C562782 C16.320.322|C19.642.482 HYPX|PARATHYROID GLANDS, AGENESIS OF Endocrine system disease|Genetic disease (inborn) Hypopharyngeal Neoplasms MESH:D007012 DO:DOID:8533 Tumors or cancer of the HYPOPHARYNX. MESH:D010610 C04.588.443.665.710.485|C07.550.745.436|C09.647.710.485|C09.775.549.485 C04.588.443.665.710|C07.550.745|C09.647.710|C09.775.549 Cancer, Hypopharyngeal|Cancers, Hypopharyngeal|Hypopharyngeal Cancer|Hypopharyngeal Cancers|Hypopharyngeal Neoplasm|Neoplasm, Hypopharyngeal|Neoplasms, Hypopharyngeal Cancer|Ear-nose-throat disease|Mouth disease Hypophosphatasia MESH:D007014 DO:DOID:14213 A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed) MESH:D008664 C16.320.565.618.482|C18.452.648.618.482 C16.320.565.618|C18.452.648.618 Hypophosphatasias Genetic disease (inborn)|Metabolic disease Hypophosphatasia, Adult MESH:C562647 OMIM:146300 MESH:D007014 C16.320.565.618.482/C562647|C18.452.648.618.482/C562647 C16.320.565.618.482|C18.452.648.618.482 HPPA|HPPO, INCLUDED|Hypophosphatasia, Mild|HYPOPHOSPHATASIA, MILD ODONTOHYPOPHOSPHATASIA, INCLUDED Genetic disease (inborn)|Metabolic disease Hypophosphatasia, Childhood MESH:C562440 DO:DOID:14213|OMIM:241510 MESH:D007014 C16.320.565.618.482/C562440|C18.452.648.618.482/C562440 C16.320.565.618.482|C18.452.648.618.482 HPPC Genetic disease (inborn)|Metabolic disease Hypophosphatasia, Infantile MESH:C562646 OMIM:241500 MESH:D007014 C16.320.565.618.482/C562646|C18.452.648.618.482/C562646 C16.320.565.618.482|C18.452.648.618.482 HOPS|HPPI|HPPN, INCLUDED|Phosphoethanolaminuria|PHOSPHOETHANOLAMINURIA HYPOPHOSPHATASIA, PERINATAL LETHAL, INCLUDED Genetic disease (inborn)|Metabolic disease Hypophosphatasia, Perinatal Lethal MESH:C567107 MESH:D007014 C16.320.565.618.482/C567107|C18.452.648.618.482/C567107 C16.320.565.618.482|C18.452.648.618.482 Genetic disease (inborn)|Metabolic disease Hypophosphatemia MESH:D017674 DO:DOID:0050336 A condition of an abnormally low level of PHOSPHATES in the blood. MESH:D010760 C18.452.750.400 C18.452.750 Hypophosphatemias Metabolic disease Hypophosphatemia, Familial MESH:D007015 An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME. MESH:D008664|MESH:D015499|MESH:D017674 C12.050.351.968.419.815.647|C12.200.777.419.815.647|C12.950.419.815.647|C16.320.565.618.544|C16.320.831.647|C18.452.648.618.544|C18.452.750.400.500 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.565.618|C16.320.831|C18.452.648.618|C18.452.750.400 Diabetes, Phosphate|Familial Hypophosphatemia|Familial Hypophosphatemias|Hyperphosphaturia|Hypophosphatemias, Familial|Phosphate Diabetes|Phosphaturia Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Hypophosphatemia, Renal, with Intracerebral Calcifications MESH:C565478 MESH:D000015|MESH:D002114|MESH:D007015 C12.050.351.968.419.815.647/C565478|C12.200.777.419.815.647/C565478|C12.950.419.815.647/C565478|C16.131.077/C565478|C16.320.565.618.544/C565478|C16.320.831.647/C565478|C18.452.174.130/C565478|C18.452.648.618.544/C565478|C18.452.750.400.500/C565478 C12.050.351.968.419.815.647|C12.200.777.419.815.647|C12.950.419.815.647|C16.131.077|C16.320.565.618.544|C16.320.831.647|C18.452.174.130|C18.452.648.618.544|C18.452.750.400.500 Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Hypophosphatemic Bone Disease MESH:C564145 OMIM:146350 MESH:D001851|MESH:D017674 C05.116.198/C564145|C18.452.104/C564145|C18.452.750.400/C564145 C05.116.198|C18.452.104|C18.452.750.400 HBD Metabolic disease|Musculoskeletal disease Hypophosphatemic Rickets And Hyperparathyroidism MESH:C567423 OMIM:612089 MESH:D049950|MESH:D063730 C05.116.198.816.875/C567423|C18.452.104.816.875/C567423|C18.452.174.845.875/C567423|C18.452.750.400.750/C567423|C18.654.521.500.133.770.734.875/C567423|C19.642.355.239/C567423 C05.116.198.816.875|C18.452.104.816.875|C18.452.174.845.875|C18.452.750.400.750|C18.654.521.500.133.770.734.875|C19.642.355.239 Endocrine system disease|Metabolic disease|Musculoskeletal disease|Nutrition disorder Hypophosphatemic Rickets, Autosomal Dominant MESH:C562791 OMIM:193100 MESH:D012279|MESH:D053098 C05.116.198.816.875.500/C562791|C05.116.198.816/C562791|C12.050.351.968.419.815.647.500/C562791|C12.200.777.419.815.647.500/C562791|C12.950.419.815.647.500/C562791|C16.320.565.618.544.500/C562791|C16.320.831.647.500/C562791|C18.452.104.816.875.500/C562791|C18.452.104.816/C562791|C18.452.174.845.875.500/C562791|C18.452.174.845/C562791|C18.452.648.618.544.500/C562791|C18.452.750.400.500.500/C562791|C18.452.750.400.750.500/C562791|C18.654.521.500.133.770.734.875.500/C562791|C18.654.521.500.133.770.734/C562791 C05.116.198.816|C05.116.198.816.875.500|C12.050.351.968.419.815.647.500|C12.200.777.419.815.647.500|C12.950.419.815.647.500|C16.320.565.618.544.500|C16.320.831.647.500|C18.452.104.816|C18.452.104.816.875.500|C18.452.174.845|C18.452.174.845.875.500|C18.452.648.618.544.500|C18.452.750.400.500.500|C18.452.750.400.750.500|C18.654.521.500.133.770.734|C18.654.521.500.133.770.734.875.500 ADHR|Hypophosphatemia, Autosomal Dominant|Vitamin D-Resistant Rickets, Autosomal Dominant Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nutrition disorder|Urogenital disease (female)|Urogenital disease (male) Hypophosphatemic Rickets, Autosomal Recessive, 1 MESH:C562792 OMIM:241520 MESH:D053098 C05.116.198.816.875.500/C562792|C12.050.351.968.419.815.647.500/C562792|C12.200.777.419.815.647.500/C562792|C12.950.419.815.647.500/C562792|C16.320.565.618.544.500/C562792|C16.320.831.647.500/C562792|C18.452.104.816.875.500/C562792|C18.452.174.845.875.500/C562792|C18.452.648.618.544.500/C562792|C18.452.750.400.500.500/C562792|C18.452.750.400.750.500/C562792|C18.654.521.500.133.770.734.875.500/C562792 C05.116.198.816.875.500|C12.050.351.968.419.815.647.500|C12.200.777.419.815.647.500|C12.950.419.815.647.500|C16.320.565.618.544.500|C16.320.831.647.500|C18.452.104.816.875.500|C18.452.174.845.875.500|C18.452.648.618.544.500|C18.452.750.400.500.500|C18.452.750.400.750.500|C18.654.521.500.133.770.734.875.500 ARHP|ARHR|ARHR1|Hypophosphatemia, Autosomal Recessive Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nutrition disorder|Urogenital disease (female)|Urogenital disease (male) Hypophosphatemic Rickets, Autosomal Recessive, 2 MESH:C567647 OMIM:613312 MESH:D053098 C05.116.198.816.875.500/C567647|C12.050.351.968.419.815.647.500/C567647|C12.200.777.419.815.647.500/C567647|C12.950.419.815.647.500/C567647|C16.320.565.618.544.500/C567647|C16.320.831.647.500/C567647|C18.452.104.816.875.500/C567647|C18.452.174.845.875.500/C567647|C18.452.648.618.544.500/C567647|C18.452.750.400.500.500/C567647|C18.452.750.400.750.500/C567647|C18.654.521.500.133.770.734.875.500/C567647 C05.116.198.816.875.500|C12.050.351.968.419.815.647.500|C12.200.777.419.815.647.500|C12.950.419.815.647.500|C16.320.565.618.544.500|C16.320.831.647.500|C18.452.104.816.875.500|C18.452.174.845.875.500|C18.452.648.618.544.500|C18.452.750.400.500.500|C18.452.750.400.750.500|C18.654.521.500.133.770.734.875.500 ARHR2 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nutrition disorder|Urogenital disease (female)|Urogenital disease (male) Hypophosphatemic Rickets with Hypercalciuria, Hereditary MESH:C562793 OMIM:241530 MESH:D053098|MESH:D053565 C05.116.198.816.875.500/C562793|C12.050.351.968.419.815.647.500/C562793|C12.200.777.419.815.647.500/C562793|C12.950.419.815.647.500/C562793|C16.320.565.618.544.500/C562793|C16.320.831.647.500/C562793|C18.452.104.816.875.500/C562793|C18.452.174.845.875.500/C562793|C18.452.648.618.544.500/C562793|C18.452.750.400.500.500/C562793|C18.452.750.400.750.500/C562793|C18.654.521.500.133.770.734.875.500/C562793|C23.888.942.337/C562793 C05.116.198.816.875.500|C12.050.351.968.419.815.647.500|C12.200.777.419.815.647.500|C12.950.419.815.647.500|C16.320.565.618.544.500|C16.320.831.647.500|C18.452.104.816.875.500|C18.452.174.845.875.500|C18.452.648.618.544.500|C18.452.750.400.500.500|C18.452.750.400.750.500|C18.654.521.500.133.770.734.875.500|C23.888.942.337 HHRH|Hypercalciuric Rickets Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nutrition disorder|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Hypophysitis MESH:D000072659 Inflammation of the PITUITARY GLAND. MESH:D010900 C10.228.140.617.738.275|C19.700.419 C10.228.140.617.738|C19.700 Hypophysitides Endocrine system disease|Nervous system disease Hypopigmentation MESH:D017496 A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. MESH:D010859 C17.800.621.440 C17.800.621 Hypomelanoses|Hypomelanosis Skin disease Hypopituitarism MESH:D007018 DO:DOID:9406|DO:DOID:9476 Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions. MESH:D010900 C10.228.140.617.738.300|C19.700.482 C10.228.140.617.738|C19.700 Adenohypophyseal Hyposecretion|Anterior Pituitary Hyposecretion Syndrome|Disease, Simmonds|Hypopituitarism, Postpartum|Hyposecretion, Adenohypophyseal|Hyposecretion Syndrome, Anterior Pituitary|Insufficiency, Pituitary|Panhypopituitarism, Postpartum|Pituitary Insufficiency|Pituitary Insufficiency, Postpartum|Postpartum Hypopituitarism|Postpartum Panhypopituitarism|Postpartum Pituitary Insufficiency|Sheehan's Syndrome|Sheehans Syndrome|Sheehan Syndrome|Simmond's Disease|Simmonds Disease|Simmonds' Disease|Syndrome, Sheehan|Syndrome, Sheehan's Endocrine system disease|Nervous system disease Hypopituitarism and septooptic 'dysplasia' MESH:C531815 OMIM:182230 MESH:D007018|MESH:D025962 C10.228.140.617.738.300/C531815|C10.292.562.700.375.875/C531815|C10.500.034.937/C531815|C10.500.760.500/C531815|C11.590.436.400.875/C531815|C16.131.666.034.937/C531815|C16.131.666.763.500/C531815|C19.700.482/C531815 C10.228.140.617.738.300|C10.292.562.700.375.875|C10.500.034.937|C10.500.760.500|C11.590.436.400.875|C16.131.666.034.937|C16.131.666.763.500|C19.700.482 CPHD5, INCLUDED|DE MORSIER SYNDROME PITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED|GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, INCLUDED|SEPTOOPTIC DYSPLASIA Congenital abnormality|Endocrine system disease|Eye disease|Nervous system disease Hypopituitarism, Congenital, with Central Diabetes Insipidus MESH:C565477 MESH:D007018|MESH:D020790 C10.228.140.617.738.300/C565477|C12.050.351.968.419.135.750/C565477|C12.200.777.419.135.750/C565477|C12.950.419.135.750/C565477|C19.700.159.750/C565477|C19.700.482/C565477 C10.228.140.617.738.300|C12.050.351.968.419.135.750|C12.200.777.419.135.750|C12.950.419.135.750|C19.700.159.750|C19.700.482 Endocrine system disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Hypoplasia of Teeth Roots MESH:C564144 MESH:D014076 C07.793/C564144 C07.793 Mouth disease Hypoplastic Left Heart Syndrome MESH:D018636 DO:DOID:9955|OMIM:241550|OMIM:614435 A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes. MESH:D006330 C14.240.400.625|C14.280.400.625|C16.131.240.400.625 C14.240.400|C14.280.400|C16.131.240.400 HLHS1|HLHS2|HYPOPLASTIC LEFT HEART SYNDROME 1|HYPOPLASTIC LEFT HEART SYNDROME 2|Left Heart Hypoplasia Syndrome|Left Heart Syndrome, Hypoplastic Cardiovascular disease|Congenital abnormality Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration MESH:C564603 OMIM:607236 MESH:D006211 C10.228.140.079.800/C564603|C10.228.140.744.320/C564603|C10.228.662.575/C564603|C10.574.500.700/C564603|C16.320.400.650/C564603 C10.228.140.079.800|C10.228.140.744.320|C10.228.662.575|C10.574.500.700|C16.320.400.650 Harp Syndrome Genetic disease (inborn)|Nervous system disease Hypoproteinemia MESH:D007019 A condition in which total serum protein level is below the normal range. Hypoproteinemia can be caused by protein malabsorption in the gastrointestinal tract, EDEMA, or PROTEINURIA. MESH:D001796 C15.378.147.607 C15.378.147 Hypoproteinemias Blood disease Hypoproteinemia, Hypercatabolic MESH:C565476 DO:DOID:0111981|OMIM:241600 MESH:D008661 C16.320.565/C565476|C18.452.648/C565476 C16.320.565|C18.452.648 B2M DEFICIENCY|BETA-2-MICROGLOBULIN DEFICIENCY|HYPOPROTEINEMIA, HYPERCATABOLIC|IMD43|IMMUNODEFICIENCY 43 Genetic disease (inborn)|Metabolic disease Hypoprothrombinemias MESH:D007020 Absence or reduced levels of PROTHROMBIN in the blood. MESH:D006474|MESH:D020147|MESH:D025861 C15.378.100.100.550|C15.378.100.141.550|C15.378.463.550|C16.320.099.550 C15.378.100.100|C15.378.100.141|C15.378.463|C16.320.099 Deficiencies, Factor II|Deficiencies, Prothrombin|Deficiency, Factor II|Deficiency, Prothrombin|Factor II Deficiencies|Factor II Deficiency|Hypoprothrombinemia|Prothrombin Deficiencies|Prothrombin Deficiency Blood disease|Genetic disease (inborn) Hypospadias MESH:D007021 DO:DOID:10892 A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA. MESH:D010409|MESH:D014564 C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.939.516 C12.050.351.875|C12.100.500.494|C12.200.294.494|C12.200.706|C12.800|C16.131.939 Hypospadia Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Hypospadias 1, X-Linked MESH:C567482 OMIM:300633 MESH:D007021|MESH:D040181 C12.050.351.875.466/C567482|C12.100.500.494.400/C567482|C12.200.294.494.400/C567482|C12.200.706.516/C567482|C12.800.516/C567482|C16.131.939.516/C567482|C16.320.322/C567482 C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.939.516|C16.320.322 Hysp1 Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Hypospadias 2, X-Linked MESH:C567462 OMIM:300758 MESH:D007021|MESH:D040181 C12.050.351.875.466/C567462|C12.100.500.494.400/C567462|C12.200.294.494.400/C567462|C12.200.706.516/C567462|C12.800.516/C567462|C16.131.939.516/C567462|C16.320.322/C567462 C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.939.516|C16.320.322 Hysp2 Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Hypospadias 3, Autosomal MESH:C567191 OMIM:146450 MESH:D007021 C12.050.351.875.466/C567191|C12.100.500.494.400/C567191|C12.200.294.494.400/C567191|C12.200.706.516/C567191|C12.800.516/C567191|C16.131.939.516/C567191 C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.939.516 HYSP3 Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO OMIM:300856 DO:DOID:10892 MESH:D007021 C12.050.351.875.466/300856|C12.100.500.494.400/300856|C12.200.294.494.400/300856|C12.200.706.516/300856|C12.800.516/300856|C16.131.939.516/300856 C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.939.516 HYSP4 Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss MESH:C566373 MESH:D003103|MESH:D006972|MESH:D007021|MESH:D046089 C05.116.099.370.231.480/C566373|C05.660.207.231.480/C566373|C09.218.458.341.849/C566373|C10.597.751.418.341.849/C566373|C11.250.110/C566373|C11.270.147/C566373|C12.050.351.875.466/C566373|C12.100.500.494.400/C566373|C12.200.294.494.400/C566373|C12.200.706.516/C566373|C12.800.516/C566373|C16.131.384.282/C566373|C16.131.621.207.231.480/C566373|C16.131.939.516/C566373|C23.888.592.763.393.341.849/C566373 C05.116.099.370.231.480|C05.660.207.231.480|C09.218.458.341.849|C10.597.751.418.341.849|C11.250.110|C11.270.147|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.384.282|C16.131.621.207.231.480|C16.131.939.516|C23.888.592.763.393.341.849 Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Hypospadias-Mental Retardation Syndrome MESH:C563067 MESH:D007021|MESH:D007593|MESH:D008607|MESH:D008831|MESH:D009264 C05.550.521/C563067|C05.660.207.620/C563067|C10.500.507.400.500/C563067|C10.597.606.360/C563067|C12.050.351.875.466/C563067|C12.100.500.494.400/C563067|C12.200.294.494.400/C563067|C12.200.706.516/C563067|C12.800.516/C563067|C16.131.621.207.620/C563067|C16.131.666.507.400.500/C563067|C16.131.939.516/C563067|C23.300.820/C563067|C23.888.592.604.646/C563067|F03.625.539/C563067 C05.550.521|C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.939.516|C23.300.820|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Hypotension MESH:D007022 Abnormally low BLOOD PRESSURE that can result in inadequate blood flow to the brain and other vital organs. Common symptom is DIZZINESS but greater negative impacts on the body occur when there is prolonged depravation of oxygen and nutrients. MESH:D014652 C14.907.514 C14.907 Blood Pressure, Low|Hypotension, Vascular|Low Blood Pressure|Vascular Hypotension Cardiovascular disease Hypotension, Orthostatic MESH:D007024 A significant drop in BLOOD PRESSURE after assuming a standing position. Orthostatic hypotension is a finding, and defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure 3 minutes after the person has risen from supine to standing. Symptoms generally include DIZZINESS, blurred vision, and SYNCOPE. MESH:D007022|MESH:D054971 C10.177.575.600.450|C14.907.514.482 C10.177.575.600|C14.907.514 Hypotension, Postural|Orthostatic Hypotension|Postural Hypotension Cardiovascular disease|Nervous system disease Hypothalamic Diseases MESH:D007027 DO:DOID:1931|DO:DOID:6676 Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders. MESH:D001927 C10.228.140.617 C10.228.140 Diencephalic Syndrome, Pituitary|Diencephalic Syndromes, Pituitary|Disease, Hypothalamic|Diseases, Hypothalamic|Disorder, Hypothalamic-Adenohypophyseal|Disorder, Hypothalamic-Neurohypophyseal|Disorders, Hypothalamic-Adenohypophyseal|Disorders, Hypothalamic-Neurohypophyseal|Dysfunction Syndrome, Hypothalamic|Dysfunction Syndromes, Hypothalamic|Dysinhibition Syndrome, Hypothalamic|Dysinhibition Syndromes, Hypothalamic|Froehlich's Syndrome|Froehlichs Syndrome|Froehlich Syndrome|Hypothalamic-Adenohypophyseal Disorder|Hypothalamic Adenohypophyseal Disorders|Hypothalamic-Adenohypophyseal Disorders|Hypothalamic Disease|Hypothalamic Dysfunction Syndrome|Hypothalamic Dysfunction Syndromes|Hypothalamic Dysinhibition Syndrome|Hypothalamic Dysinhibition Syndromes|Hypothalamic-Neurohypophyseal Disorder|Hypothalamic Neurohypophyseal Disorders|Hypothalamic-Neurohypophyseal Disorders|Hypothalamic Overactivity Syndrome|Hypothalamic Overactivity Syndromes|Hypothalamic Pseudopuberties|Hypothalamic Pseudopuberty|Overactivity Syndrome, Hypothalamic|Overactivity Syndromes, Hypothalamic|Pituitary Diencephalic Syndrome|Pituitary Diencephalic Syndromes|Pseudopuberties, Hypothalamic|Pseudopuberty, Hypothalamic|Syndrome, Froehlich's|Syndrome, Hypothalamic Dysfunction|Syndrome, Hypothalamic Dysinhibition|Syndrome, Hypothalamic Overactivity|Syndromes, Hypothalamic Dysfunction|Syndromes, Hypothalamic Dysinhibition|Syndromes, Hypothalamic Overactivity|Syndromes, Pituitary Diencephalic Nervous system disease Hypothalamic hamartomas MESH:C537158 OMIM:241800 MESH:D006222|MESH:D007027 C04.445/C537158|C10.228.140.617/C537158 C04.445|C10.228.140.617 Congenital hypothalamic hamartoma syndrome|Hamartoma of the hypothalamus|Hypothalamic hamartoma|PALLISTER-HALL-LIKE SYNDROME|PHLS Cancer|Nervous system disease Hypothalamic Neoplasms MESH:D007029 DO:DOID:3644 Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051) MESH:D007027|MESH:D015173 C04.588.614.250.195.885.500|C10.228.140.211.885.500|C10.228.140.617.477|C10.551.240.250.700.500 C04.588.614.250.195.885|C10.228.140.211.885|C10.228.140.617|C10.551.240.250.700 Benign Hypothalamic Neoplasm|Benign Hypothalamic Neoplasms|Cancer, Hypothalamic|Cancers, Hypothalamic|Hypothalamic Cancer|Hypothalamic Cancers|Hypothalamic-Chiasmatic Neoplasm|Hypothalamic Chiasmatic Neoplasms|Hypothalamic-Chiasmatic Neoplasms|Hypothalamic Neoplasm|Hypothalamic Neoplasm, Malignant|Hypothalamic Neoplasms, Benign|Hypothalamic Neoplasms, Malignant|Hypothalamic-Pituitary Neoplasm|Hypothalamic Pituitary Neoplasms|Hypothalamic-Pituitary Neoplasms|Hypothalamic Teratoma|Hypothalamic Teratomas|Hypothalamic Tumor|Hypothalamic Tumors|Hypothalamo-Neurohypophysial Region Neoplasm|Hypothalamo Neurohypophysial Region Neoplasms|Hypothalamo-Neurohypophysial Region Neoplasms|Hypothalamus Neoplasm|Hypothalamus Neoplasms|Hypothalamus Tumor|Hypothalamus Tumors|Malignant Hypothalamic Neoplasm|Malignant Hypothalamic Neoplasms|Neoplasm, Benign Hypothalamic|Neoplasm, Hypothalamic|Neoplasm, Hypothalamic-Chiasmatic|Neoplasm, Hypothalamic-Pituitary|Neoplasm, Hypothalamo-Neurohypophysial Region|Neoplasm, Hypothalamus|Neoplasm, Malignant Hypothalamic|Neoplasms, Hypothalamic|Neoplasms, Hypothalamic, Benign|Neoplasms, Hypothalamic Chiasmatic|Neoplasms, Hypothalamic-Chiasmatic|Neoplasms, Hypothalamic, Malignant|Neoplasms, Hypothalamic Pituitary|Neoplasms, Hypothalamic-Pituitary|Neoplasms, Hypothalamo Neurohypophysial Region|Neoplasms, Hypothalamo-Neurohypophysial Region|Neoplasms, Hypothalamus|Neoplasms, Malignant Hypothalamic|Teratoma, Hypothalamic|Teratomas, Hypothalamic|Tumor, Hypothalamic|Tumor, Hypothalamus|Tumors, Hypothalamic|Tumors, Hypothalamus Cancer|Nervous system disease Hypothermia MESH:D007035 Lower than normal body temperature, especially in warm-blooded animals. MESH:D001832 C23.888.119.565 C23.888.119 Accidental Hypothermia|Accidental Hypothermias|Hypothermia, Accidental|Hypothermias|Hypothermias, Accidental Signs and symptoms Hypothyroidism MESH:D007037 DO:DOID:1459 A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. It may be primary or secondary due to other pituitary disease, or hypothalamic dysfunction. MESH:D013959 C19.874.482 C19.874 Central Hypothyroidism|Central Hypothyroidisms|Deficiency, Thyroid-Stimulating Hormone|Deficiency, TSH|Hormone Deficiency, Thyroid-Stimulating|Hypothyroidism, Central|Hypothyroidism, Primary|Hypothyroidisms|Hypothyroidism, Secondary|Primary Hypothyroidism|Primary Hypothyroidisms|Secondary Hypothyroidism|Secondary Hypothyroidisms|Thyroid-Stimulating Hormone Deficiencies|Thyroid Stimulating Hormone Deficiency|Thyroid-Stimulating Hormone Deficiency|TSH Deficiencies|TSH Deficiency Endocrine system disease Hypothyroidism, Autoimmune MESH:C562768 MESH:D013967|MESH:D050031 C19.874.871.102.500/C562768|C19.874.871.102/C562768|C20.111.809/C562768 C19.874.871.102|C19.874.871.102.500|C20.111.809 Endocrine system disease|Immune system disease HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT OMIM:300888 DO:DOID:0111140 MESH:D007037|MESH:D013733 C12.100.500.829/300888|C12.200.294.829/300888|C19.391.829/300888|C19.874.482/300888 C12.100.500.829|C12.200.294.829|C19.391.829|C19.874.482 CHTE Endocrine system disease|Urogenital disease (male) Hypothyroidism, Congenital, Nongoitrous, 1 MESH:C576976 OMIM:275200 MESH:D003409 C05.116.099.343.347/C576976|C05.116.132.256/C576976|C16.320.240.625/C576976|C19.297.155/C576976|C19.874.482.281/C576976 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 CHNG1|Hypothyroidism, Congenital, Due To Tsh Resistance|Hypothyroidism Due To Unresponsiveness To Thyrotropin|Hypothyroidism, Nonautoimmune|RTSH|Thyroid-Stimulating Hormone, Resistance To|THYROTROPIN RESISTANCE|TSH RESISTANCE Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Hypothyroidism, Congenital, Nongoitrous, 2 MESH:C566852 OMIM:218700 MESH:D003409|MESH:D050033 C05.116.099.343.347/C566852|C05.116.132.256/C566852|C16.131.894/C566852|C16.320.240.625/C566852|C19.297.155/C566852|C19.874.482.281/C566852|C19.874.689/C566852 C05.116.099.343.347|C05.116.132.256|C16.131.894|C16.320.240.625|C19.297.155|C19.874.482.281|C19.874.689 Athyreotic Hypothyroidism|CHNG2|Hypothyroidism, Athyreotic|Hypothyroidism, Congenital, Due To Thyroid Dysgenesis|RESISTANCE TO THYROTROPIN|RTSH|THYROID AGENESIS|THYROID DYSGENESIS|THYROID, ECTOPIC|THYROID HYPOPLASIA|THYROTROPIN RESISTANCE Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Hypothyroidism, Congenital, Nongoitrous, 3 MESH:C567935 OMIM:609893 MESH:D003409 C05.116.099.343.347/C567935|C05.116.132.256/C567935|C16.320.240.625/C567935|C19.297.155/C567935|C19.874.482.281/C567935 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 CHNG3|Congenital Hypothyroidism, Nongoitrous, 3|RESISTANCE TO THYROTROPIN|RTSH|THYROTROPIN RESISTANCE Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 OMIM:275100 DO:DOID:0070123 MESH:D003409 C05.116.099.343.347/275100|C05.116.132.256/275100|C16.320.240.625/275100|C19.297.155/275100|C19.874.482.281/275100 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 CHNG4|PITUITARY CRETINISM THYROTROPIN, BIOLOGICALLY INACTIVE, INCLUDED|THYROID-STIMULATING HORMONE DEFICIENCY|THYROTROPIN DEFICIENCY, ISOLATED|TSH DEFICIENCY Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Hypothyroidism, Congenital, Nongoitrous, 5 MESH:C567123 OMIM:225250 MESH:D003409 C05.116.099.343.347/C567123|C05.116.132.256/C567123|C16.320.240.625/C567123|C19.297.155/C567123|C19.874.482.281/C567123 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 CHNG5 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 OMIM:614450 DO:DOID:0070128 MESH:D003409 C05.116.099.343.347/614450|C05.116.132.256/614450|C16.320.240.625/614450|C19.297.155/614450|C19.874.482.281/614450 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 CHNG6 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME OMIM:617330 DO:DOID:0081176 MESH:D001259|MESH:D002658|MESH:D009123 C10.597.350.090/617330|C10.597.613.575/617330|C23.888.592.350.090/617330|C23.888.592.608.575/617330|F03.625.421/617330 C10.597.350.090|C10.597.613.575|C23.888.592.350.090|C23.888.592.608.575|F03.625.421 HADDS Mental disorder|Nervous system disease|Signs and symptoms Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response MESH:C537159 MESH:D001259|MESH:D003711|MESH:D009123|MESH:D020417 C10.292.562.675.300/C537159|C10.314/C537159|C10.597.350.090/C537159|C10.597.613.575/C537159|C11.590.400.300/C537159|C16.614.643/C537159|C23.888.592.350.090/C537159|C23.888.592.608.575/C537159 C10.292.562.675.300|C10.314|C10.597.350.090|C10.597.613.575|C11.590.400.300|C16.614.643|C23.888.592.350.090|C23.888.592.608.575 Hypotonia, Congenital Nystagmus, Ataxia, And Abnormal Auditory Brainstem Responses Eye disease|Infant-newborn disease|Nervous system disease|Signs and symptoms Hypotonia-Cystinuria Syndrome MESH:C564710 DO:DOID:0060858|OMIM:606407 MESH:D002872|MESH:D003555|MESH:D008607|MESH:D009123|MESH:D019465|MESH:D028361 C05.660.207/C564710|C10.597.606.360/C564710|C10.597.613.575/C564710|C12.050.351.968.419.815.885.250/C564710|C12.200.777.419.815.885.250/C564710|C12.950.419.815.885.250/C564710|C16.131.621.207/C564710|C16.320.831.885.250/C564710|C18.452.660/C564710|C23.550.210.050.500.500/C564710|C23.888.592.604.646/C564710|C23.888.592.608.575/C564710|F03.625.539/C564710 C05.660.207|C10.597.606.360|C10.597.613.575|C12.050.351.968.419.815.885.250|C12.200.777.419.815.885.250|C12.950.419.815.885.250|C16.131.621.207|C16.320.831.885.250|C18.452.660|C23.550.210.050.500.500|C23.888.592.604.646|C23.888.592.608.575|F03.625.539 Cystinuria with Mitochondrial Disease|HOMOZYGOUS 2p16 DELETION SYNDROME, FORMERLY HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDED|Homozygous 2p21 Deletion Syndrome Congenital abnormality|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION OMIM:616816 MESH:D009123|MESH:D011596 C10.597.606.881/616816|C10.597.613.575/616816|C23.888.592.604.882/616816|C23.888.592.608.575/616816 C10.597.606.881|C10.597.613.575|C23.888.592.604.882|C23.888.592.608.575 IHPMR Nervous system disease|Signs and symptoms HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 OMIM:615419 MESH:D009123|MESH:D011596|MESH:D019066 C10.597.606.881/615419|C10.597.613.575/615419|C23.550.291.812/615419|C23.888.592.604.882/615419|C23.888.592.608.575/615419 C10.597.606.881|C10.597.613.575|C23.550.291.812|C23.888.592.604.882|C23.888.592.608.575 IHPRF|IHPRF1 Nervous system disease|Pathology (process)|Signs and symptoms HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 OMIM:616801 MESH:D009123|MESH:D011596|MESH:D019066 C10.597.606.881/616801|C10.597.613.575/616801|C23.550.291.812/616801|C23.888.592.604.882/616801|C23.888.592.608.575/616801 C10.597.606.881|C10.597.613.575|C23.550.291.812|C23.888.592.604.882|C23.888.592.608.575 IHPRF2 Nervous system disease|Pathology (process)|Signs and symptoms HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 OMIM:616900 MESH:D009123|MESH:D011596|MESH:D019066 C10.597.606.881/616900|C10.597.613.575/616900|C23.550.291.812/616900|C23.888.592.604.882/616900|C23.888.592.608.575/616900 C10.597.606.881|C10.597.613.575|C23.550.291.812|C23.888.592.604.882|C23.888.592.608.575 IHPRF3 Nervous system disease|Pathology (process)|Signs and symptoms Hypotonia, Seizures, And Precocious Puberty MESH:C567566 MESH:D000015|MESH:D009123|MESH:D011629|MESH:D012640|MESH:D019066 C10.597.613.575/C567566|C10.597.742/C567566|C16.131.077/C567566|C19.391.693/C567566|C23.550.291.812/C567566|C23.888.592.608.575/C567566|C23.888.592.742/C567566 C10.597.613.575|C10.597.742|C16.131.077|C19.391.693|C23.550.291.812|C23.888.592.608.575|C23.888.592.742 Congenital abnormality|Endocrine system disease|Nervous system disease|Pathology (process)|Signs and symptoms Hypotrichosis MESH:D007039 DO:DOID:4535|OMIM:278150|OMIM:604379|OMIM:613981|OMIM:614237|OMIM:614238|OMIM:615059|OMIM:615885|OMIM:615896 Presence of less than the normal amount of hair. (Dorland, 27th ed) MESH:D006201 C17.800.329.937 C17.800.329 AH|ARWH1, INCLUDED|ARWH2, INCLUDED|HTSS2|Hypotrichoses|HYPOTRICHOSIS 10|HYPOTRICHOSIS 11|HYPOTRICHOSIS 12|HYPOTRICHOSIS 13|HYPOTRICHOSIS 3|HYPOTRICHOSIS 7|HYPOTRICHOSIS 8|HYPOTRICHOSIS 9|HYPOTRICHOSIS, AUTOSOMAL RECESSIVE|HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2|HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3;LAH3 WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS, INCLUDED|HYPOTRICHOSIS SIMPLEX OF THE SCALP 2|HYPOTRICHOSIS, TOTAL, MARI TYPE WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS, INCLUDED|HYPOTRICHOSIS WITH WOOLLY HAIR|HYPT10|HYPT11|HYPT12|HYPT13|HYPT3|HYPT7|HYPT8|HYPT9|LAH2|WH/HT, INCLUDED Skin disease HYPOTRICHOSIS 2 OMIM:146520 DO:DOID:0110699 MESH:C537160 C17.800.329.937/C537160/146520 C17.800.329.937/C537160 HTSS|HTSS1|HYPOTRICHOSIS SIMPLEX OF THE SCALP 1|HYPOTRICHOSIS, SPANISH TYPE|HYPT2 Skin disease Hypotrichosis 5 MESH:C567554 DO:DOID:0110702|OMIM:612841 MESH:D007039 C17.800.329.937/C567554 C17.800.329.937 HYPT5|Marie Unna Hereditary Hypotrichosis 2|MUHH2 Skin disease Hypotrichosis And Recurrent Skin Vesicles MESH:C567751 OMIM:613102 MESH:D001768|MESH:D007039 C17.800.329.937/C567751|C17.800.865.187/C567751|C23.300.122/C567751 C17.800.329.937|C17.800.865.187|C23.300.122 HYPTSV Pathology (anatomical condition)|Skin disease Hypotrichosis, Localized, Autosomal Recessive 1 MESH:C564312 OMIM:607903 MESH:D007039 C17.800.329.937/C564312 C17.800.329.937 HTL|HYPOTRICHOSIS 6|Hypotrichosis, Localized, Autosomal Recessive|HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1|HYPT6|LAH|LAH1|MONILETHRIX-LIKE HYPOTRICHOSIS Skin disease Hypotrichosis, Localized, Autosomal Recessive, 3 MESH:C566950 MESH:D007039 C17.800.329.937/C566950 C17.800.329.937 Skin disease HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME OMIM:137940 DO:DOID:0111360 MESH:C536825|MESH:C564327|MESH:D008209 C12.050.351.968.419.570.363.615/C536825/137940|C12.200.777.419.570.363.615/C536825/137940|C12.950.419.570.363.615/C536825/137940|C14.907.823/C536825/137940|C14.907.823/C564327/137940|C15.604.496/137940|C15.604.496/C564327/137940|C17.800.329.937.122/C536825/137940|C17.800.329.937/C564327/137940|C20.425/C536825/137940|C23.300.035/C536825/137940 C12.050.351.968.419.570.363.615/C536825|C12.200.777.419.570.363.615/C536825|C12.950.419.570.363.615/C536825|C14.907.823/C536825|C14.907.823/C564327|C15.604.496|C15.604.496/C564327|C17.800.329.937.122/C536825|C17.800.329.937/C564327|C20.425/C536825|C23.300.035/C536825 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES|HLTRS|TELANGIECTATIC MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS Cardiovascular disease|Immune system disease|Lymphatic disease|Pathology (anatomical condition)|Skin disease|Urogenital disease (female)|Urogenital disease (male) Hypotrichosis-Lymphedema-Telangiectasia Syndrome MESH:C564327 DO:DOID:0111361|OMIM:607823 MESH:D007039|MESH:D008209|MESH:D013684 C14.907.823/C564327|C15.604.496/C564327|C17.800.329.937/C564327 C14.907.823|C15.604.496|C17.800.329.937 HLTS Cardiovascular disease|Lymphatic disease|Skin disease Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome MESH:C564357 MESH:D007039|MESH:D007645|MESH:D010014|MESH:D010518 C05.116.264.579/C564357|C07.465.714.533/C564357|C16.320.850.475/C564357|C17.800.329.937/C564357|C17.800.428.435/C564357|C17.800.827.475/C564357 C05.116.264.579|C07.465.714.533|C16.320.850.475|C17.800.329.937|C17.800.428.435|C17.800.827.475 Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip-Palate MESH:C563765 MESH:D002971|MESH:D002972|MESH:D007039|MESH:D054039 C05.500.460.185/C563765|C05.660.207.540.460.185/C563765|C07.320.440.185/C563765|C07.465.409.225/C563765|C07.465.525.164/C563765|C07.465.525.185/C563765|C07.650.500.460.185/C563765|C07.650.525.164/C563765|C07.650.525.185/C563765|C16.131.621.207.540.460.185/C563765|C16.131.850.500.460.185/C563765|C16.131.850.525.164/C563765|C16.131.850.525.185/C563765|C17.800.329.937/C563765|C17.800.529.478/C563765 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C17.800.329.937|C17.800.529.478 Marie Unna-Like Scalp Hypotrichosis Congenital abnormality|Mouth disease|Musculoskeletal disease|Skin disease Hypotrichosis simplex MESH:C537160 OMIM:605389 MESH:D007039 C17.800.329.937/C537160 C17.800.329.937 Hereditary hypotrichosis simplex|HHS|HTS|HYPOTRICHOSIS 1|HYPOTRICHOSIS SIMPLEX, GENERALIZED, HEREDITARY|HYPT1 Skin disease Hypotrichosis Simplex of Scalp MESH:C564143 MESH:D007039 C17.800.329.937/C564143 C17.800.329.937 Hypotrichosis, Spanish Type Skin disease Hypouricemia, Familial Renal, due to Tubular Hypersecretion MESH:C564405 MESH:D015499 C12.050.351.968.419.815/C564405|C12.200.777.419.815/C564405|C12.950.419.815/C564405|C16.320.565.893/C564405|C16.320.831/C564405|C18.452.648.893/C564405 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.565.893|C16.320.831|C18.452.648.893 Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Hypouricemia, Hypercalcinuria, and Decreased Bone Density MESH:C565475 MESH:D001851|MESH:D002128|MESH:D015499 C05.116.198/C565475|C12.050.351.968.419.815/C565475|C12.200.777.419.815/C565475|C12.950.419.815/C565475|C16.320.565.893/C565475|C16.320.831/C565475|C18.452.104/C565475|C18.452.174/C565475|C18.452.648.893/C565475 C05.116.198|C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.565.893|C16.320.831|C18.452.104|C18.452.174|C18.452.648.893 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Hypouricemia, Renal, 2 MESH:C567426 OMIM:612076 MESH:D015499 C12.050.351.968.419.815/C567426|C12.200.777.419.815/C567426|C12.950.419.815/C567426|C16.320.565.893/C567426|C16.320.831/C567426|C18.452.648.893/C567426 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.565.893|C16.320.831|C18.452.648.893 GOUT2, INCLUDED|GOUT SUSCEPTIBILITY 2, INCLUDED|RHUC2|UAQTL2, INCLUDED|URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2, INCLUDED Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Hypoventilation MESH:D007040 A reduction in the amount of air entering the pulmonary alveoli. MESH:D012131|MESH:D012818 C08.618.846.565|C23.888.852.638 C08.618.846|C23.888.852 Hypoventilations Respiratory tract disease|Signs and symptoms Hypovolemia MESH:D020896 An abnormally low volume of blood circulating through the body. It may result in hypovolemic shock (see SHOCK). MESH:D010335 C23.550.455 C23.550 Hypovolemias|Hypovolemic|Hypovolemics Pathology (process) Hypoxia MESH:D000860 Sub-optimal OXYGEN levels in the ambient air of living organisms. MESH:D012818 C23.888.852.079 C23.888.852 Anoxemia|Anoxia|Deficiencies, Oxygen|Deficiency, Oxygen|Hypoxemia|Oxygen Deficiencies|Oxygen Deficiency Signs and symptoms Hypoxia, Brain MESH:D002534 A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives. MESH:D000860|MESH:D001927 C10.228.140.624|C23.888.852.079.797 C10.228.140|C23.888.852.079 Anoxia, Brain|Anoxia, Cerebral|Anoxic Brain Damage|Anoxic Encephalopathies|Anoxic Encephalopathy|Brain Anoxia|Brain Damage, Anoxic|Brain Damage, Hypoxic|Brain Hypoxia|Cerebral Anoxia|Cerebral Hypoxia|Damage, Anoxic Brain|Damage, Hypoxic Brain|Encephalopathies, Anoxic|Encephalopathies, Hypoxic|Encephalopathy, Anoxic|Encephalopathy, Hypoxic|Hypoxia, Cerebral|Hypoxic Brain Damage|Hypoxic Encephalopathies|Hypoxic Encephalopathy Nervous system disease|Signs and symptoms Hypoxia-Ischemia, Brain MESH:D020925 A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions. MESH:D002534|MESH:D002545 C10.228.140.300.150.716|C10.228.140.624.500|C14.907.253.092.716|C23.888.852.079.797.500 C10.228.140.300.150|C10.228.140.624|C14.907.253.092|C23.888.852.079.797 Anoxia Ischemia, Brain|Anoxia-Ischemia, Brain|Anoxia Ischemia, Cerebral|Anoxia-Ischemia, Cerebral|Anoxia-Ischemias, Brain|Anoxia-Ischemias, Cerebral|Anoxic-Ischemic Encephalopathies|Anoxic Ischemic Encephalopathy|Anoxic-Ischemic Encephalopathy|Brain Anoxia Ischemia|Brain Anoxia-Ischemia|Brain Anoxia-Ischemias|Brain Hypoxia Ischemia|Brain Hypoxia-Ischemia|Brain Hypoxia-Ischemias|Brain Ischemia Anoxia|Brain Ischemia-Anoxia|Brain Ischemia-Anoxias|Brain Ischemia Hypoxia|Brain Ischemia-Hypoxia|Brain Ischemia-Hypoxias|Cerebral Anoxia Ischemia|Cerebral Anoxia-Ischemia|Cerebral Anoxia-Ischemias|Cerebral Hypoxia Ischemia|Cerebral Hypoxia-Ischemia|Cerebral Hypoxia-Ischemias|Cerebral Ischemia Anoxia|Cerebral Ischemia-Anoxia|Cerebral Ischemia-Anoxias|Cerebral Ischemia Hypoxia|Cerebral Ischemia-Hypoxia|Cerebral Ischemia-Hypoxias|Encephalopathies, Anoxic-Ischemic|Encephalopathies, Hypoxic-Ischemic|Encephalopathies, Ischemic-Hypoxic|Encephalopathy, Anoxic Ischemic|Encephalopathy, Anoxic-Ischemic|Encephalopathy, Hypoxic Ischemic|Encephalopathy, Hypoxic-Ischemic|Encephalopathy, Ischemic-Hypoxic|Hypoxia Ischemia, Brain|Hypoxia Ischemia, Cerebral|Hypoxia-Ischemia, Cerebral|Hypoxia-Ischemias, Brain|Hypoxia-Ischemias, Cerebral|Hypoxic-Ischemic Encephalopathies|Hypoxic Ischemic Encephalopathy|Hypoxic-Ischemic Encephalopathy|Ischemia Anoxia, Brain|Ischemia-Anoxia, Brain|Ischemia Anoxia, Cerebral|Ischemia-Anoxia, Cerebral|Ischemia-Anoxias, Brain|Ischemia-Anoxias, Cerebral|Ischemia Hypoxia, Brain|Ischemia-Hypoxia, Brain|Ischemia Hypoxia, Cerebral|Ischemia-Hypoxia, Cerebral|Ischemia-Hypoxias, Brain|Ischemia-Hypoxias, Cerebral|Ischemic-Hypoxic Encephalopathies|Ischemic Hypoxic Encephalopathy|Ischemic-Hypoxic Encephalopathy Cardiovascular disease|Nervous system disease|Signs and symptoms Hysteria MESH:D007046 Historical term for a chronic, but fluctuating, disorder beginning in early life and characterized by recurrent and multiple somatic complaints not apparently due to physical illness. This diagnosis is not used in contemporary practice. MESH:D006677 F03.675.400.500 F03.675.400 Hysterical Neuroses|Neuroses, Hysterical Mental disorder Iatrogenic Disease MESH:D007049 Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment. MESH:D020969 C23.550.291.875 C23.550.291 Condition, Hospital-Acquired|Conditions, Hospital-Acquired|Disease, Iatrogenic|Diseases, Iatrogenic|Hospital Acquired Condition|Hospital-Acquired Condition|Hospital-Acquired Conditions|Iatrogenic Diseases Pathology (process) Iatrophobia MESH:C000719205 MESH:D010698 F03.080.725/C000719205 F03.080.725 Fear of doctors|Phobia, doctors Mental disorder Ichthyosiform erythroderma, Brocq congenital, nonbullous form MESH:C538603 OMIM:242100 MESH:D017490 C16.131.831.512.400.410/C538603|C16.320.850.400.410/C538603|C16.614.492.400.410/C538603|C17.800.428.333.250.410/C538603|C17.800.804.512.400.410/C538603|C17.800.827.400.410/C538603 C16.131.831.512.400.410|C16.320.850.400.410|C16.614.492.400.410|C17.800.428.333.250.410|C17.800.804.512.400.410|C17.800.827.400.410 ARCI2|COLLODION BABY, SELF-HEALING|ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM, FORMERLY|Ichthyosiform Erythroderma, Congenital, Nonbullous, 1|ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL, 1, FORMERLY|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2|NCIE1, FORMERLY|Nonbullous congenital ichthyosiform erythroderma 1 Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Ichthyosiform Erythroderma, Congenital MESH:D016113 Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type. MESH:D007057|MESH:D012873 C16.131.831.512.400|C16.320.850.400|C16.614.492.400|C17.800.428.333.250|C17.800.804.512.400|C17.800.827.400 C16.131.831.512|C16.320.850|C16.614.492|C17.800.428.333|C17.800.804.512|C17.800.827 Congenital Ichthyosiform Erythroderma|Congenital Ichthyosiform Erythroderma, Dry Type|Congenital Ichthyosiform Erythrodermas|Congenital Ichthyosiform Erythroderma, Wet Type|Erythroderma, Congenital Ichthyosiform|Erythrodermas, Congenital Ichthyosiform|Ichthyosiform Erythrodermas, Congenital Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Ichthyosiform erythroderma, corneal involvement, deafness MESH:C537363 MESH:D003317|MESH:D003638|MESH:D017490 C09.218.458.341.186/C537363|C10.597.751.418.341.186/C537363|C11.204.236/C537363|C11.270.162/C537363|C16.131.831.512.400.410/C537363|C16.320.290.162/C537363|C16.320.850.400.410/C537363|C16.614.492.400.410/C537363|C17.800.428.333.250.410/C537363|C17.800.804.512.400.410/C537363|C17.800.827.400.410/C537363|C23.888.592.763.393.341.186/C537363 C09.218.458.341.186|C10.597.751.418.341.186|C11.204.236|C11.270.162|C16.131.831.512.400.410|C16.320.290.162|C16.320.850.400.410|C16.614.492.400.410|C17.800.428.333.250.410|C17.800.804.512.400.410|C17.800.827.400.410|C23.888.592.763.393.341.186 Desmons syndrome|Ichthyosiform Erythroderma, Corneal Involvement, And Deafness|Keratitis-ichthyosis-deafness syndrome, autosomal recessive|Kid Syndrome, Autosomal Recessive Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Infant-newborn disease|Nervous system disease|Signs and symptoms|Skin disease Ichthyosis MESH:D007057 DO:DOID:1697 Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. MESH:D007232|MESH:D007642|MESH:D012868 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 C16.131.831|C16.614|C17.800.428|C17.800.804 Ichthyoses|Xeroderma|Xerodermas Congenital abnormality|Infant-newborn disease|Skin disease Ichthyosis and male hypogonadism MESH:C537365 OMIM:308200 MESH:D003456|MESH:D007006|MESH:D008607|MESH:D016114 C10.597.606.360/C537365|C12.100.500.829.258/C537365|C12.200.294.829.258/C537365|C12.200.706.258/C537365|C12.800.258/C537365|C16.131.831.512.420/C537365|C16.131.939.258/C537365|C16.320.322.241/C537365|C16.320.565.925.400/C537365|C16.320.850.408/C537365|C16.614.492.420/C537365|C17.800.428.333.420/C537365|C17.800.804.512.420/C537365|C17.800.827.408/C537365|C18.452.648.925.400/C537365|C19.391.482/C537365|C19.391.829.258/C537365|C23.888.592.604.646/C537365|F03.625.539/C537365 C10.597.606.360|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C16.131.831.512.420|C16.131.939.258|C16.320.322.241|C16.320.565.925.400|C16.320.850.408|C16.614.492.420|C17.800.428.333.420|C17.800.804.512.420|C17.800.827.408|C18.452.648.925.400|C19.391.482|C19.391.829.258|C23.888.592.604.646|F03.625.539 Ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation|RUDS, INCLUDED|RUD SYNDROME, INCLUDED Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Infant-newborn disease|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease|Urogenital disease (male) Ichthyosis Bullosa of Siemens MESH:D053560 DO:DOID:0060877|OMIM:146800 An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A. MESH:D007057|MESH:D012873 C16.131.831.512.408|C16.320.850.402|C16.614.492.410|C17.800.428.333.330|C17.800.804.512.405|C17.800.827.403 C16.131.831.512|C16.320.850|C16.614.492|C17.800.428.333|C17.800.804.512|C17.800.827 Bullous Type Ichthyoses|Bullous Type Ichthyosis|Bullous Type of Ichthyosis|IBS|Ichthyoses, Bullous Type|Ichthyosis Bullous Type|Ichthyosis, Bullous Type|ICHTHYOSIS, BULLOUS TYPE ICHTHYOSIS EXFOLIATIVA, INCLUDED|Ichthyosis, Bullous Type of Siemens|Siemens Ichthyosis Bullosa Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Ichthyosis cheek eyebrow syndrome MESH:C536084 MESH:D007057|MESH:D019465 C05.660.207/C536084|C16.131.621.207/C536084|C16.131.831.512/C536084|C16.614.492/C536084|C17.800.428.333/C536084|C17.800.804.512/C536084 C05.660.207|C16.131.621.207|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 Ichthyosis-Cheek-Eyebrow Syndrome|Sidransky Feinstein Goodman syndrome Congenital abnormality|Infant-newborn disease|Musculoskeletal disease|Skin disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 OMIM:615024 DO:DOID:0060719 MESH:D007057 C16.131.831.512/615024|C16.614.492/615024|C17.800.428.333/615024|C17.800.804.512/615024 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 ARCI10 Congenital abnormality|Infant-newborn disease|Skin disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12 OMIM:617320 MESH:D007057 C16.131.831.512/617320|C16.614.492/617320|C17.800.428.333/617320|C17.800.804.512/617320 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 ARCI12 Congenital abnormality|Infant-newborn disease|Skin disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 OMIM:612281 DO:DOID:0060715 MESH:D007057 C16.131.831.512/612281|C16.614.492/612281|C17.800.428.333/612281|C17.800.804.512/612281 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 ARCI6|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED Congenital abnormality|Infant-newborn disease|Skin disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 OMIM:613943 DO:DOID:0060717 MESH:D007057 C16.131.831.512/613943|C16.614.492/613943|C17.800.428.333/613943|C17.800.804.512/613943 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 ARCI8|ICHTHYOSIS, LAMELLAR, 4, FORMERLY|LAMELLAR ICHTHYOSIS, LATE-ONSET|LI4, FORMERLY Congenital abnormality|Infant-newborn disease|Skin disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 OMIM:615023 DO:DOID:0060718 MESH:D007057 C16.131.831.512/615023|C16.614.492/615023|C17.800.428.333/615023|C17.800.804.512/615023 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 ARCI9 Congenital abnormality|Infant-newborn disease|Skin disease Ichthyosis, Congenital, Autosomal Recessive, Ichthyin-Related MESH:C567370 MESH:D007057 C16.131.831.512/C567370|C16.614.492/C567370|C17.800.428.333/C567370|C17.800.804.512/C567370 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 Arcii Congenital abnormality|Infant-newborn disease|Skin disease Ichthyosis, Congenital, with Trichothiodystrophy MESH:C566643 MESH:D007057|MESH:D054463 C16.131.077.899/C566643|C16.131.831.512/C566643|C16.131.831.874/C566643|C16.320.850.895/C566643|C16.614.492/C566643|C17.800.428.333/C566643|C17.800.804.512/C566643|C17.800.804.874/C566643|C17.800.827.895/C566643 C16.131.077.899|C16.131.831.512|C16.131.831.874|C16.320.850.895|C16.614.492|C17.800.428.333|C17.800.804.512|C17.800.804.874|C17.800.827.895 Trichothiodystrophy with Congenital Ichthyosis Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Ichthyosis Congenita With Biliary Atresia MESH:C562886 MESH:D001656|MESH:D016113 C06.130.120.123/C562886|C06.198.125/C562886|C16.131.314.125/C562886|C16.131.831.512.400/C562886|C16.320.850.400/C562886|C16.614.492.400/C562886|C17.800.428.333.250/C562886|C17.800.804.512.400/C562886|C17.800.827.400/C562886 C06.130.120.123|C06.198.125|C16.131.314.125|C16.131.831.512.400|C16.320.850.400|C16.614.492.400|C17.800.428.333.250|C17.800.804.512.400|C17.800.827.400 Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Infant-newborn disease|Skin disease Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis MESH:C564367 OMIM:607602 MESH:D017488 C16.131.831.512.400.375/C564367|C16.320.850.400.375/C564367|C16.614.492.400.375/C564367|C17.800.428.333.250.375/C564367|C17.800.804.512.400.375/C564367|C17.800.827.400.375/C564367 C16.131.831.512.400.375|C16.320.850.400.375|C16.614.492.400.375|C17.800.428.333.250.375|C17.800.804.512.400.375|C17.800.827.400.375 AEI|AEI1|CIEHK1|Epidermolytic Ichthyosis, Annular|ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 1|ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Ichthyosis Exfoliativa MESH:C563978 MESH:D007057 C16.131.831.512/C563978|C16.614.492/C563978|C17.800.428.333/C563978|C17.800.804.512/C563978 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 Congenital abnormality|Infant-newborn disease|Skin disease Ichthyosis follicularis atrichia photophobia syndrome MESH:C536085 DO:DOID:0111821|OMIM:308205 MESH:D000505|MESH:D007057|MESH:D020795 C10.597.751.941.661/C536085|C11.966.741/C536085|C16.131.831.512/C536085|C16.614.492/C536085|C17.800.329.937.122/C536085|C17.800.428.333/C536085|C17.800.804.512/C536085|C23.300.035/C536085|C23.888.592.763.941.661/C536085 C10.597.751.941.661|C11.966.741|C16.131.831.512|C16.614.492|C17.800.329.937.122|C17.800.428.333|C17.800.804.512|C23.300.035|C23.888.592.763.941.661 Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome|ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA|IFAP1|IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME|IFAP syndrome Ichthyosis follicularis atrichia photophobia syndrome|Ifap syndrome with or without Bresheck syndrome Congenital abnormality|Eye disease|Infant-newborn disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Ichthyosis hystrix, Curth Macklin type MESH:C536088 OMIM:146590 MESH:D007057|MESH:D012628 C16.131.831.512/C536088|C16.614.492/C536088|C17.800.174.580/C536088|C17.800.428.333/C536088|C17.800.794.230/C536088|C17.800.804.512/C536088|C17.800.815.580/C536088|C17.800.859.350/C536088 C16.131.831.512|C16.614.492|C17.800.174.580|C17.800.428.333|C17.800.794.230|C17.800.804.512|C17.800.815.580|C17.800.859.350 Curth-Macklin type ichthyosis hystrix|Ichthyosis Hystrix, Curth-Macklin Type|IHCM Congenital abnormality|Infant-newborn disease|Skin disease Ichthyosis hystrix gravior MESH:C536087 MESH:D007057|MESH:D010212 C04.557.470.700.600/C536087|C16.131.831.512/C536087|C16.614.492/C536087|C17.800.428.333/C536087|C17.800.804.512/C536087 C04.557.470.700.600|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 Ichthyosis, Lambert Type|Lambert type ichthyosis|Porcupine man Cancer|Congenital abnormality|Infant-newborn disease|Skin disease Ichthyosis, Lamellar MESH:D017490 DO:DOID:0060655|OMIM:242300 A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate. MESH:D016113 C16.131.831.512.400.410|C16.320.850.400.410|C16.614.492.400.410|C17.800.428.333.250.410|C17.800.804.512.400.410|C17.800.827.400.410 C16.131.831.512.400|C16.320.850.400|C16.614.492.400|C17.800.428.333.250|C17.800.804.512.400|C17.800.827.400 ARCI1|Baby Syndrome, Collodion|Baby Syndrome, Harlequin|Baby Syndromes, Collodion|Baby Syndromes, Harlequin|COLLODION BABY, SELF-HEALING|Collodion Baby Syndrome|Collodion Baby Syndromes|Collodion Fetus|Congenita II, Ichthyosis|Congenita IIs, Ichthyosis|Congenital Ichthyosiform Erythroderma, Nonbullous|Congenital Nonbullous Ichthyosiform Erythroderma|Desquamation of Newborn|Erythroderma Ichthyosiforme, Nonbullous|Erythroderma Ichthyosiformes, Nonbullous|Fetus, Collodion|Fetus, Harlequin|Harlequin Baby Syndrome|Harlequin Baby Syndromes|Harlequin Fetus|Harlequin Ichthyoses|Harlequin Ichthyosis|Ichthyose, Lamellar|Ichthyoses, Harlequin|Ichthyoses, Lamellar|Ichthyosiforme, Nonbullous Erythroderma|Ichthyosiform Erythroderma, Nonbullous Congenital|Ichthyosiformes, Nonbullous Erythroderma|Ichthyosis Congenita|Ichthyosis Congenita I|Ichthyosis Congenita II|Ichthyosis Congenita IIs|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION|Ichthyosis, Harlequin|Ichthyosis, Lamellar, 1|ICHTHYOSIS, LAMELLAR, 1, FORMERLY|ICR2|Lamellar Exfoliation of Newborn|Lamellar Ichthyose|Lamellar Ichthyoses|Lamellar Ichthyosis|Lamellar Ichthyosis, Type 1|LI1, FORMERLY|Newborn Desquamation|Newborn Desquamations|Newborn Lamellar Exfoliation|Newborn Lamellar Exfoliations|Nonbullous Congenital Ichthyosiform Erythroderma|Nonbullous Congenital Lamellar Ichthyosis|Nonbullous Erythroderma Ichthyosiforme|Nonbullous Erythroderma Ichthyosiformes|SHCB|Syndrome, Collodion Baby|Syndrome, Harlequin Baby|Syndromes, Collodion Baby|Syndromes, Harlequin Baby Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Ichthyosis, Lamellar, 5 MESH:C564699 OMIM:606545 MESH:D017490 C16.131.831.512.400.410/C564699|C16.320.850.400.410/C564699|C16.614.492.400.410/C564699|C17.800.428.333.250.410/C564699|C17.800.804.512.400.410/C564699|C17.800.827.400.410/C564699 C16.131.831.512.400.410|C16.320.850.400.410|C16.614.492.400.410|C17.800.428.333.250.410|C17.800.804.512.400.410|C17.800.827.400.410 ARCI3|COLLODION BABY, SELF-HEALING|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3|ICHTHYOSIS, LAMELLAR, 5, FORMERLY|Lamellar Ichthyosis, Type 5|LI5, FORMERLY Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis MESH:C564365 OMIM:607626 MESH:D000505|MESH:D007057|MESH:D007960|MESH:D015209 C06.130.120.200.110/C564365|C15.378.553/C564365|C16.131.831.512/C564365|C16.614.492/C564365|C17.800.329.937.122/C564365|C17.800.428.333/C564365|C17.800.804.512/C564365|C23.300.035/C564365 C06.130.120.200.110|C15.378.553|C16.131.831.512|C16.614.492|C17.800.329.937.122|C17.800.428.333|C17.800.804.512|C23.300.035 Ichthyosis-Sclerosing Cholangitis Syndrome|ILVASC|Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome|Nisch Syndrome Blood disease|Congenital abnormality|Digestive system disease|Infant-newborn disease|Pathology (anatomical condition)|Skin disease Ichthyosis, mental retardation, dwarfism, and renal impairment MESH:C536274 MESH:D004392|MESH:D007057|MESH:D007674|MESH:D008607 C05.116.099.343/C536274|C10.597.606.360/C536274|C12.050.351.968.419/C536274|C12.200.777.419/C536274|C12.950.419/C536274|C16.131.831.512/C536274|C16.320.240/C536274|C16.614.492/C536274|C17.800.428.333/C536274|C17.800.804.512/C536274|C19.297/C536274|C23.888.592.604.646/C536274|F03.625.539/C536274 C05.116.099.343|C10.597.606.360|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.831.512|C16.320.240|C16.614.492|C17.800.428.333|C17.800.804.512|C19.297|C23.888.592.604.646|F03.625.539 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Infant-newborn disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease|Urogenital disease (female)|Urogenital disease (male) Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin MESH:C563402 MESH:D007057|MESH:D008607|MESH:D012868 C10.597.606.360/C563402|C16.131.831.512/C563402|C16.131.831/C563402|C16.614.492/C563402|C17.800.428.333/C563402|C17.800.804.512/C563402|C17.800.804/C563402|C23.888.592.604.646/C563402|F03.625.539/C563402 C10.597.606.360|C16.131.831|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804|C17.800.804.512|C23.888.592.604.646|F03.625.539 Congenital abnormality|Infant-newborn disease|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive MESH:C565749 MESH:D007057 C16.131.831.512/C565749|C16.614.492/C565749|C17.800.428.333/C565749|C17.800.804.512/C565749 C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 Congenital abnormality|Infant-newborn disease|Skin disease Ichthyosis prematurity syndrome MESH:C536271 OMIM:608649 MESH:D007057|MESH:D007235 C16.131.831.512/C536271|C16.614.492/C536271|C16.614.521/C536271|C17.800.428.333/C536271|C17.800.804.512/C536271 C16.131.831.512|C16.614.492|C16.614.521|C17.800.428.333|C17.800.804.512 Ichthyosis congenita IV|IPS Congenital abnormality|Infant-newborn disease|Skin disease Ichthyosis, Split Hairs, and Amino Aciduria MESH:C565471 MESH:D000592|MESH:D007057 C16.131.831.512/C565471|C16.320.565.100/C565471|C16.614.492/C565471|C17.800.428.333/C565471|C17.800.804.512/C565471|C18.452.648.100/C565471 C16.131.831.512|C16.320.565.100|C16.614.492|C17.800.428.333|C17.800.804.512|C18.452.648.100 Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease Ichthyosis tapered fingers midline groove up MESH:C536272 MESH:D007057|MESH:D017880 C05.660.585/C536272|C16.131.621.585/C536272|C16.131.831.512/C536272|C16.614.492/C536272|C17.800.428.333/C536272|C17.800.804.512/C536272 C05.660.585|C16.131.621.585|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512 Oral and digital anomalies with ichthyosis|Unusual facies, digital abnormalities, and ichthyosis Congenital abnormality|Infant-newborn disease|Musculoskeletal disease|Skin disease Ichthyosis Vulgaris MESH:D016112 DO:DOID:1702|OMIM:146700 Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait. MESH:D007057|MESH:D012873 C16.131.831.512.410|C16.320.850.405|C17.800.428.333.410|C17.800.804.512.410|C17.800.827.405 C16.131.831.512|C16.320.850|C17.800.428.333|C17.800.804.512|C17.800.827 Dominant Ichthyosis Vulgaris|Ichthyosis Simplex|Ichthyosis Simplices|Ichthyosis Vulgaris, Dominant Congenital abnormality|Genetic disease (inborn)|Skin disease ICHTHYOSIS WITH CONFETTI OMIM:609165 MESH:D016113 C16.131.831.512.400/609165|C16.320.850.400/609165|C16.614.492.400/609165|C17.800.428.333.250/609165|C17.800.804.512.400/609165|C17.800.827.400/609165 C16.131.831.512.400|C16.320.850.400|C16.614.492.400|C17.800.428.333.250|C17.800.804.512.400|C17.800.827.400 AARAU DISEASE, INCLUDED|CRIE|ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR|ICHTHYOSIS VARIEGATA MICROPINNAE, ALOPECIA UNIVERSALIS, CONGENITAL ICHTHYOSIS, AND ECTROPION|IWC|MAUIE|MAUIE SYNDROME ERYTHROKERATODERMA, RETICULAR, INCLUDED Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Ichthyosis with hypotrichosis, autosomal recessive MESH:C536273 OMIM:602400 MESH:D007039|MESH:D007057 C16.131.831.512/C536273|C16.614.492/C536273|C17.800.329.937/C536273|C17.800.428.333/C536273|C17.800.804.512/C536273 C16.131.831.512|C16.614.492|C17.800.329.937|C17.800.428.333|C17.800.804.512 ARCI11|ARIH|Autosomal recessive ichthyosis with hypotrichosis|ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11|Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis|ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE|IFAH Congenital abnormality|Infant-newborn disease|Skin disease Ichthyosis, X-Linked MESH:D016114 DO:DOID:1700|OMIM:308100 Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency. MESH:D007057|MESH:D012873|MESH:D040181|MESH:D043202 C16.131.831.512.420|C16.320.322.241|C16.320.565.925.400|C16.320.850.408|C16.614.492.420|C17.800.428.333.420|C17.800.804.512.420|C17.800.827.408|C18.452.648.925.400 C16.131.831.512|C16.320.322|C16.320.565.925|C16.320.850|C16.614.492|C17.800.428.333|C17.800.804.512|C17.800.827|C18.452.648.925 Deficiencies, Steroid Sulfatase|Deficiency, Steroid Sulfatase|Ichthyoses, Sex-Linked|Ichthyoses, X-Linked|Ichthyosis, Sex Linked|Ichthyosis, Sex-Linked|Ichthyosis, X Linked|Placental Steroid Sulfatase Deficiency|Steroid Sulfatase Deficiencies|Steroid Sulfatase Deficiency|Steroid Sulfatase Deficiency Disease|STEROID SULFATASE DEFICIENCY DISEASE;SSDD ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDED|STS DEFICIENCY|Sulfatase Deficiencies, Steroid|Sulfatase Deficiency, Steroid|XLI Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease Ichthyosis, X-Linked, Complicated MESH:C567443 MESH:D007057|MESH:D040181 C16.131.831.512/C567443|C16.320.322/C567443|C16.614.492/C567443|C17.800.428.333/C567443|C17.800.804.512/C567443 C16.131.831.512|C16.320.322|C16.614.492|C17.800.428.333|C17.800.804.512 Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Ichthyosis, X-Linked, without Steroid Sulfatase Deficiency MESH:C564729 MESH:D016114 C16.131.831.512.420/C564729|C16.320.322.241/C564729|C16.320.565.925.400/C564729|C16.320.850.408/C564729|C16.614.492.420/C564729|C17.800.428.333.420/C564729|C17.800.804.512.420/C564729|C17.800.827.408/C564729|C18.452.648.925.400/C564729 C16.131.831.512.420|C16.320.322.241|C16.320.565.925.400|C16.320.850.408|C16.614.492.420|C17.800.428.333.420|C17.800.804.512.420|C17.800.827.408|C18.452.648.925.400 Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease Idiopathic basal ganglia calcification, childhood onset MESH:C536276 MESH:D001480|MESH:D002114 C10.228.140.079/C536276|C18.452.174.130/C536276 C10.228.140.079|C18.452.174.130 Basal Ganglia Calcification, Idiopathic, Childhood-Onset|Bilateral striopallidodentate calcinosis, childhood onset|Cerebral calcification, nonarteriosclerotic, childhood onset, idiopathic|Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Childhood-Onset|IBGC, childhood onset|Striopallidodentate Calcinosis, Bilateral, Childhood-Onset Metabolic disease|Nervous system disease Idiopathic dilation cardiomyopathy MESH:C536277 OMIM:604288 MESH:D002311 C14.280.195.160/C536277|C14.280.238.070/C536277|C16.320.488.750/C536277 C14.280.195.160|C14.280.238.070|C16.320.488.750 Cardiomyopathy, Dilated, 1h|Cardiomyopathy, Dilated, With Conduction Defect|CMD1H|Dilated cardiomyopathy with conduction defect Cardiovascular disease|Genetic disease (inborn) Idiopathic Hypersomnia MESH:D020177 A sleep disorder of central nervous system origin characterized by prolonged nocturnal sleep and periods of daytime drowsiness. Affected individuals experience difficulty with awakening in the morning and may have associated sleep drunkenness, automatic behaviors, and memory disturbances. This condition differs from narcolepsy in that daytime sleep periods are longer, there is no association with CATAPLEXY, and the multiple sleep latency onset test does not record sleep-onset rapid eye movement sleep. (From Chokroverty, Sleep Disorders Medicine, 1994, pp319-20; Psychiatry Clin Neurosci 1998 Apr:52(2):125-129) MESH:D006970 C10.886.425.800.200.400|F03.870.400.800.200.400 C10.886.425.800.200|F03.870.400.800.200 CNS Hypersomnolence, Idiopathic|CNS Hypersomnolences, Idiopathic|Hypersomnia, Idiopathic|Hypersomnias, Idiopathic|Hypersomnolence, CNS, Idiopathic|Hypersomnolence, Idiopathic|Hypersomnolence, Idiopathic CNS|Hypersomnolences, Idiopathic|Hypersomnolences, Idiopathic CNS|Idiopathic Central Nervous System Hypersomnolence|Idiopathic CNS Hypersomnolence|Idiopathic CNS Hypersomnolences|Idiopathic Hypersomnias|Idiopathic Hypersomnolence|Idiopathic Hypersomnolences Mental disorder|Nervous system disease Idiopathic Hypogonadotropic Hypogonadism MESH:C562785 OMIM:146110 MESH:D007006 C19.391.482/C562785 C19.391.482 HH7|HYPOGONADISM, ISOLATED HYPOGONADOTROPIC|Hypogonadotropic Hypogonadism 7 With Or Without Anosmia|IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM|IHH Endocrine system disease Idiopathic inflammatory myopathy, familial MESH:C000598744 MESH:D009220 C05.651.594/C000598744|C10.668.491.562/C000598744 C05.651.594|C10.668.491.562 Idiopathic myopathy|Myopathy, familial idiopathic inflammatory Musculoskeletal disease|Nervous system disease Idiopathic Interstitial Pneumonias MESH:D054988 A group of interstitial lung diseases with no known etiology. There are several entities with varying patterns of inflammation and fibrosis. They are classified by their distinct clinical-radiological-pathological features and prognosis. They include IDIOPATHIC PULMONARY FIBROSIS; CRYPTOGENIC ORGANIZING PNEUMONIA; and others. MESH:D054990 C08.381.483.652.500.750 C08.381.483.652.500 Idiopathic Interstitial Pneumonia|Interstitial Pneumonia, Idiopathic|Interstitial Pneumonias, Idiopathic|Pneumonia, Idiopathic Interstitial|Pneumonias, Idiopathic Interstitial Respiratory tract disease Idiopathic intracranial hypertension with papilledema MESH:C531795 MESH:D011559 C10.228.140.631.750/C531795 C10.228.140.631.750 Nervous system disease Idiopathic Juxtafoveal Retinal Telangiectasia MESH:C548027 MESH:D058456 C11.768.748/C548027|C14.907.823.502/C548027 C11.768.748|C14.907.823.502 Cardiovascular disease|Eye disease Idiopathic Noncirrhotic Portal Hypertension MESH:D000094724 Portal hypertension without known risk factors for hypertension, e.g., HEPATIC CIRRHOSIS and SCHISTOSOMIASIS. Idiopathic Noncirrhotic Portal Hypertension is most often associated with pathology in the PORTAL SYSTEM vasculature. MESH:D006975 C06.552.494.561 C06.552.494 Banti Disease|Banti's Disease|Banti's Syndrome|Banti Syndrome|Congestive Splenomegaly, Idiopathic|Disease, Banti's|Disease, Porto-Sinusoidal Vascular|Diseases, Porto-Sinusoidal Vascular|Fibrosis, Noncirrhotic Portal|Hypertension, Idiopathic Portal|Idiopathic Congestive Splenomegalies|Idiopathic Congestive Splenomegaly|Idiopathic Non Cirrhotic Portal Hypertension|Idiopathic Non-Cirrhotic Portal Hypertension|Idiopathic Portal Hypertension|Idiopathic Portal Hypertensions|INCPH|Noncirrhotic Portal Fibroses|Noncirrhotic Portal Fibrosis|Portal Fibrosis, Noncirrhotic|Portal Hypertension, Idiopathic|Porto-Sinusoidal Vascular Disease|Porto Sinusoidal Vascular Diseases|Porto-Sinusoidal Vascular Diseases|Splenomegaly, Idiopathic Congestive|Syndrome, Banti's|Vascular Disease, Porto-Sinusoidal Digestive system disease Idiopathic orthostatic hypotension MESH:C544351 MESH:D007024|MESH:D054970 C10.177.575.600.450/C544351|C10.177.575.650/C544351|C14.907.514.482/C544351 C10.177.575.600.450|C10.177.575.650|C14.907.514.482 Cardiovascular disease|Nervous system disease Idiopathic Pulmonary Fibrosis MESH:D054990 DO:DOID:0050156|OMIM:178500 A common interstitial lung disease of unknown etiology, usually occurring between 50-70 years of age. Clinically, it is characterized by an insidious onset of breathlessness with exertion and a nonproductive cough, leading to progressive DYSPNEA. Pathological features show scant interstitial inflammation, patchy collagen fibrosis, prominent fibroblast proliferation foci, and microscopic honeycomb change. MESH:D011658 C08.381.483.652.500 C08.381.483.652 Cryptogenic Fibrosing Alveolitides|Cryptogenic Fibrosing Alveolitis|Dysplasia, Fibrocystic Pulmonary|Familial Idiopathic Pulmonary Fibrosis|Fibrocystic Pulmonary Dysplasia|Fibrocystic Pulmonary Dysplasias|Fibrosing Alveolitides, Cryptogenic|Fibrosing Alveolitis, Cryptogenic|Idiopathic Fibrosing Alveolitis, Chronic Form|Idiopathic Pulmonary Fibroses|Idiopathic Pulmonary Fibrosis, Familial|ILD2|INTERSTITIAL LUNG DISEASE 2|Interstitial Pneumonia, Usual|Interstitial Pneumonitis, Usual|INTERSTITIAL PNEUMONITIS, USUAL;UIP HAMMAN-RICH DISEASE, INCLUDED|IPF|Pneumonitides, Usual Interstitial|Pneumonitis, Usual Interstitial|Pulmonary Dysplasia, Fibrocystic|Pulmonary Fibroses, Idiopathic|Pulmonary Fibrosis, Idiopathic|Usual Interstitial Pneumonia|Usual Interstitial Pneumonias|Usual Interstitial Pneumonitides|Usual Interstitial Pneumonitis Respiratory tract disease idiopathic pulmonary hemosiderosis MESH:C536281 DO:DOID:12118 MESH:D006486|MESH:D008171 C08.381/C536281|C18.452.565.500.500/C536281 C08.381|C18.452.565.500.500 alveolar hypoventilation syndrome|hemosiderosis, pulmonary, with deficiency of gamma-a globulin|pulmonary hemosiderosis Metabolic disease|Respiratory tract disease Idiopathic subglottic tracheal stenosis MESH:C536283 MESH:D014135 C08.907.663/C536283 C08.907.663 Respiratory tract disease IgA Deficiency MESH:D017098 DO:DOID:0060025|DO:DOID:11701 A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A. MESH:D004406 C15.378.147.333.500|C20.673.430.500 C15.378.147.333|C20.673.430 Deficiencies, IgA|Deficiency, IgA|IgA Deficiencies Blood disease|Immune system disease IgA Vasculitis MESH:D011695 DO:DOID:11123 A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections. MESH:D007105|MESH:D011693|MESH:D014657|MESH:D017445|MESH:D020141 C14.907.940.777|C15.378.100.802.375|C15.378.463.515.580|C17.800.862.329|C20.543.520.600|C23.550.414.950.375|C23.888.885.687.375 C14.907.940|C15.378.100.802|C15.378.463.515|C17.800.862|C20.543.520|C23.550.414.950|C23.888.885.687 Allergic Purpura|Anaphylactoid Purpura|Hemorrhagica, Purpura|Hemorrhagic Vasculitis|Henoch Purpura|Henoch Schoenlein Purpura|Henoch-Schoenlein Purpura|Henoch Schonlein Purpura|Henoch-Schonlein Purpura|Henoch Schonlein Purpuras|Henoch-Schonlein Purpuras|Nonthrombocytopenic Purpura|Nonthrombopenic Purpura|Nonthrombopenic Purpuras|Purpura, Allergic|Purpura, Anaphylactoid|Purpura Hemorrhagica|Purpura, Henoch|Purpura, Henoch-Schoenlein|Purpura, Henoch Schonlein|Purpura, Henoch-Schonlein|Purpura, Nonthrombocytopenic|Purpura, Nonthrombopenic|Purpura, Rheumatoid|Purpura, Schoenlein Henoch|Purpura, Schoenlein-Henoch|Purpura, Schonlein Henoch|Purpura, Schonlein-Henoch|Purpuras, Henoch Schonlein|Purpuras, Henoch-Schonlein|Purpuras, Nonthrombopenic|Purpuras, Schonlein-Henoch|Rheumatoid Purpura|Schoenlein Henoch Purpura|Schoenlein-Henoch Purpura|Schonlein-Henoch Purpura|Schonlein-Henoch Purpuras|Schonlein Purpura, Henoch|Schonlein Purpuras, Henoch|Vasculitis, Hemorrhagic|Vasculitis, IgA Blood disease|Cardiovascular disease|Immune system disease|Pathology (process)|Signs and symptoms|Skin disease Ige Responsiveness, Atopic MESH:C564133 OMIM:147050 MESH:D012130 C08.674/C564133|C20.543.480.680/C564133 C08.674|C20.543.480.680 ATOPIC HYPERSENSITIVITY, INCLUDED|ATOPY, SUSCEPTIBILITY TO, INCLUDED|IGEL|IgE, LEVEL OF|IGER|Ige Response Underlying Allergic Asthma and Rhinitis|IgE RESPONSE UNDERLYING ALLERGIC ASTHMA AND RHINITIS IgE, ELEVATED LEVEL OF, INCLUDED|Immunoglobulin E, Basic Level of, in Serum Immune system disease|Respiratory tract disease IgG Deficiency MESH:D017099 DO:DOID:14176 A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G. MESH:D004406 C15.378.147.333.750|C20.673.430.750 C15.378.147.333|C20.673.430 Deficiencies, IgG|Deficiency, IgG|IgG Deficiencies Blood disease|Immune system disease IGHM protein, human MESH:C041229 MESH:D006362 C15.378.147.780.490/C041229|C15.604.515.435/C041229|C20.683.780.490/C041229 C15.378.147.780.490|C15.604.515.435|C20.683.780.490 BOT heavy chain disease protein, human|immunoglobulin heavy constant mu protein, human Blood disease|Immune system disease|Lymphatic disease Iida Kannari syndrome MESH:C536284 MESH:D002972|MESH:D003286|MESH:D003398|MESH:D012600 C05.116.099.370.894.232/C536284|C05.116.900.800.875/C536284|C05.500.460.185/C536284|C05.550.323/C536284|C05.651.197/C536284|C05.660.207.240/C536284|C05.660.207.540.460.185/C536284|C05.660.906.364/C536284|C07.320.440.185/C536284|C07.465.525.185/C536284|C07.650.500.460.185/C536284|C07.650.525.185/C536284|C16.131.621.207.240/C536284|C16.131.621.207.540.460.185/C536284|C16.131.621.906.364/C536284|C16.131.850.500.460.185/C536284|C16.131.850.525.185/C536284 C05.116.099.370.894.232|C05.116.900.800.875|C05.500.460.185|C05.550.323|C05.651.197|C05.660.207.240|C05.660.207.540.460.185|C05.660.906.364|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.621.207.240|C16.131.621.207.540.460.185|C16.131.621.906.364|C16.131.850.500.460.185|C16.131.850.525.185 Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features Congenital abnormality|Mouth disease|Musculoskeletal disease Ileal Diseases MESH:D007077 Pathological development in the ILEUM including the ILEOCECAL VALVE. MESH:D007410 C06.405.469.420 C06.405.469 Disease, Ileal|Diseases, Ileal|Ileal Disease Digestive system disease Ileal Neoplasms MESH:D007078 DO:DOID:10156 Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL). MESH:D007077|MESH:D007414 C04.588.274.476.411.501|C06.301.371.411.501|C06.405.249.411.501|C06.405.469.420.501|C06.405.469.491.501 C04.588.274.476.411|C06.301.371.411|C06.405.249.411|C06.405.469.420|C06.405.469.491 Cancer, Ileal|Cancer of ILEUM|Cancer of the ILEUM|Cancers, Ileal|Ileal Cancer|Ileal Cancers|Ileal Neoplasm|ILEUM Cancer|ILEUM Cancers|Neoplasm, Ileal|Neoplasms, Ileal Cancer|Digestive system disease Ileitis MESH:D007079 DO:DOID:0060189 Inflammation of any segment of the ILEUM and the ILEOCECAL VALVE. MESH:D004751|MESH:D007077 C06.405.205.462.624|C06.405.469.326.875|C06.405.469.420.520 C06.405.205.462|C06.405.469.326|C06.405.469.420 Digestive system disease Ileus MESH:D045823 DO:DOID:8440 A condition caused by the lack of intestinal PERISTALSIS or INTESTINAL MOTILITY without any mechanical obstruction. This interference of the flow of INTESTINAL CONTENTS often leads to INTESTINAL OBSTRUCTION. Ileus may be classified into postoperative, inflammatory, metabolic, neurogenic, and drug-induced. MESH:D007415 C06.405.469.531.492 C06.405.469.531 Digestive system disease Iliac Aneurysm MESH:D017543 Abnormal balloon- or sac-like dilatation in the wall of any one of the iliac arteries including the common, the internal, or the external ILIAC ARTERY. MESH:D000783 C14.907.055.625 C14.907.055 Aneurysm, Iliac|Aneurysms, Iliac|Iliac Aneurysms Cardiovascular disease Iliotibial Band Syndrome MESH:D058745 An overuse injury causing lateral knee pain that results from repetitive friction of the iliotibial band over the lateral femoral epicondyle. MESH:D007718|MESH:D012090 C26.558.554.425|C26.844.150.425 C26.558.554|C26.844.150 IT Band Syndrome Wounds and injuries Illusions MESH:D007088 The misinterpretation of a real external, sensory experience. MESH:D010468 C10.597.606.762.400|C23.888.592.604.764.400 C10.597.606.762|C23.888.592.604.764 Auditory Illusion|Auditory Illusions|Autokinetic Effect|Autokinetic Effects|Autokinetic Illusion|Autokinetic Illusions|Effect, Autokinetic|Effects, Autokinetic|Illusion|Illusion, Auditory|Illusion, Autokinetic|Illusion, Kinesthetic|Illusions, Auditory|Illusions, Autokinetic|Illusions, Kinesthetic|Illusions, Tactile|Illusions, Visual|Illusion, Tactile|Illusion, Visual|Kinesthetic Illusion|Kinesthetic Illusions|Tactile Illusion|Tactile Illusions|Visual Illusion|Visual Illusions Nervous system disease|Signs and symptoms Imerslund-Grasbeck syndrome MESH:C538556 OMIM:261100 MESH:D000749|MESH:D008286|MESH:D011507|MESH:D014806 C06.405.469.637/C538556|C12.050.351.968.934.734/C538556|C12.200.777.934.734/C538556|C12.950.934.734/C538556|C15.378.071.252.196/C538556|C18.452.603/C538556|C18.654.521.500.133.699.923/C538556|C23.888.942.750/C538556 C06.405.469.637|C12.050.351.968.934.734|C12.200.777.934.734|C12.950.934.734|C15.378.071.252.196|C18.452.603|C18.654.521.500.133.699.923|C23.888.942.750 Enterocyte cobalamin malabsorption|Enterocyte intrinsic factor receptor, defect of|IGS1|IMERSLUND-GRASBECK SYNDROME 1|Megaloblastic Anemia 1|MEGALOBLASTIC ANEMIA, 1|MEGALOBLASTIC ANEMIA, FINNISH TYPE|MGA1|PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA Blood disease|Digestive system disease|Metabolic disease|Nutrition disorder|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Iminoglycinuria MESH:C536285 DO:DOID:0112265|OMIM:242600 MESH:D015499 C12.050.351.968.419.815/C536285|C12.200.777.419.815/C536285|C12.950.419.815/C536285|C16.320.565.893/C536285|C16.320.831/C536285|C18.452.648.893/C536285 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.565.893|C16.320.831|C18.452.648.893 Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Immersion Foot MESH:D007102 A condition of the feet produced by prolonged exposure of the feet to water. Exposure for 48 hours or more to warm water causes tropical immersion foot or warm-water immersion foot common in Vietnam where troops were exposed to prolonged or repeated wading in paddy fields or streams. Trench foot results from prolonged exposure to cold, without actual freezing. It was common in trench warfare during World War I, when soldiers stood, sometimes for hours, in trenches with a few inches of cold water in them. (Andrews' Diseases of the Skin, 8th ed, p27) MESH:D005534 C17.800.321.500 C17.800.321 Feet, Immersion|Feet, Trench|Foot, Immersion|Foot, Trench|Immersion Feet|Trench Feet|Trench Foot Skin disease Immotile cilia syndrome, due to defective radial spokes MESH:C536286 MESH:D002925 C08.200/C536286|C09.150/C536286|C16.131.077.245.500/C536286|C16.320.184.500/C536286 C08.200|C09.150|C16.131.077.245.500|C16.320.184.500 Ciliary Dyskinesia With Defective Radial Spokes|Cilia with defective radial spokes|Immotile Cilia Syndrome Due To Defective Radial Spokes Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Immotile cilia syndrome, due to excessively long cilia MESH:C536287 MESH:D001991|MESH:D002925|MESH:D012220|MESH:D012852 C01.748.099/C536287|C01.748.674/C536287|C01.748.749/C536287|C08.127.446/C536287|C08.200/C536287|C08.381.495.146/C536287|C08.460.692.752/C536287|C08.460.799/C536287|C08.730.099/C536287|C08.730.674/C536287|C08.730.749/C536287|C09.150/C536287|C09.603.692.752/C536287|C09.603.799/C536287|C16.131.077.245.500/C536287|C16.320.184.500/C536287 C01.748.099|C01.748.674|C01.748.749|C08.127.446|C08.200|C08.381.495.146|C08.460.692.752|C08.460.799|C08.730.099|C08.730.674|C08.730.749|C09.150|C09.603.692.752|C09.603.799|C16.131.077.245.500|C16.320.184.500 Ciliary Dyskinesia With Excessively Long Cilia|Immotile Cilia Syndrome Due To Excessively Long Cilia Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Immune Complex Diseases MESH:D007105 DO:DOID:1557 Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA. MESH:D006967 C20.543.520 C20.543 Disease, Immune Complex|Diseases, Immune Complex|Hypersensitivities, Type III|Hypersensitivity, Type III|Immune Complex Disease|Type III Hypersensitivities|Type III Hypersensitivity Immune system disease Immune Deficiency Disease MESH:C565469 MESH:D007153 C20.673/C565469 C20.673 Immune system disease Immune Deficiency, Familial Variable MESH:C564136 MESH:D000081207 C16.320.798/C564136|C20.673.795/C564136 C16.320.798|C20.673.795 Genetic disease (inborn)|Immune system disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 MESH:C557826 DO:DOID:0111976|OMIM:612782 MESH:D016511 C16.320.798.750/C557826|C16.614.815/C557826|C18.452.284.800/C557826|C20.673.795.750/C557826 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 IMD9|IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1|IMMUNODEFICIENCY 9 Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 MESH:C557827 DO:DOID:0111970|OMIM:612783 MESH:D016511 C16.320.798.750/C557827|C16.614.815/C557827|C18.452.284.800/C557827|C20.673.795.750/C557827 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 IMD10|IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2|IMMUNODEFICIENCY 10|STIM1 DEFICIENCY Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome MESH:C580192 DO:DOID:0090110|OMIM:304790 MESH:D003922|MESH:D003967|MESH:D007154|MESH:D040181 C16.320.322/C580192|C18.452.394.750.124/C580192|C19.246.267/C580192|C20.111.327/C580192|C20/C580192|C23.888.821.214/C580192 C16.320.322|C18.452.394.750.124|C19.246.267|C20|C20.111.327|C23.888.821.214 Autoimmunity-Immunodeficiency Syndrome, X-Linked|Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea|Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked|DMSD|Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy|IDDM-Secretory Diarrhea Syndrome|IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FORMERLY ISLETS OF LANGERHANS, ABSENCE OF, INCLUDED|Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked|IPEX|Ipex Syndrome|Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked|XLAAD|X-Linked Autoimmunity-Allergic Dysregulation Syndrome|XPID Endocrine system disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Signs and symptoms IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION OMIM:616100 MESH:D056735 C15.604.515.138/616100|C16.320.089/616100|C20.111.288/616100|C20.683.515.124/616100 C15.604.515.138|C16.320.089|C20.111.288|C20.683.515.124 ALPS5|AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V|CHAI|CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION|IDAIL Genetic disease (inborn)|Immune system disease|Lymphatic disease Immune Reconstitution Inflammatory Syndrome MESH:D054019 Exuberant inflammatory response towards a previously acquired or undiagnosed opportunistic infection. It is frequently seen in AIDS patients following antiretroviral treatment. MESH:D007154 C20.608 C20 Immune Reconstitution Disease|Immune Reconstitution Syndrome|Immune Reconstitution Syndromes|Immune Restoration Disease|Immune Restoration Diseases|Immune Restoration Syndrome|Reconstitution Disease, Immune|Reconstitution Syndrome, Immune|Restoration Syndrome, Immune Immune system disease IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT OMIM:146820 MESH:D007154 C20/146820 C20 IGAT Immune system disease IMMUNE SUPPRESSION OMIM:146850 MESH:D007154|MESH:D013290 C01.150.252.410.890/146850|C20/146850 C01.150.252.410.890|C20 IS|ISCW|ISSCW|STREPTOCOCCAL CELL WALL ANTIGEN, SUPPRESSION OF IMMUNE RESPONSE TO Bacterial infection or mycosis|Immune system disease Immune System Diseases MESH:D007154 Disorders caused by abnormal or absent immunologic mechanisms, whether humoral, cell-mediated, or both. MESH:C C20 C Disease, Immune|Disease, Immune System|Disease, Immunologic|Disease, Immunological|Diseases of Immune System|Disorder, Immune System|Immune Disease|Immune Diseases|Immune Disorder|Immune Disorders|Immune System Disease|Immune System Disorder|Immune System Disorders|Immunological Disease|Immunological Diseases|Immunologic Disease|Immunologic Diseases Immune system disease Immunoblastic Lymphadenopathy MESH:D007119 DO:DOID:0111147 A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly. MESH:D000072281|MESH:D008232 C15.604.338.500|C15.604.515.509|C20.683.515.501 C15.604.338|C15.604.515|C20.683.515 Angioimmunoblastic Lymphadenopathies|Angioimmunoblastic Lymphadenopathy|Immunoblastic Lymphadenopathies|Lymphadenopathies, Angioimmunoblastic|Lymphadenopathies, Immunoblastic|Lymphadenopathy, Angioimmunoblastic|Lymphadenopathy, Immunoblastic Immune system disease|Lymphatic disease IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS OMIM:212050 DO:DOID:2058 MESH:D002178|MESH:D007153 C01.150.703.160.088/212050|C01.150.703.302.100/212050|C01.800.200.100/212050|C17.800.838.208.165/212050|C20.673/212050|C23.550.291.500.250/212050 C01.150.703.160.088|C01.150.703.302.100|C01.800.200.100|C17.800.838.208.165|C20.673|C23.550.291.500.250 CANDF2|CANDIDIASIS, FAMILIAL, 2|CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE|CARD9 IMMUNODEFICIENCY|IMD103 Bacterial infection or mycosis|Immune system disease|Pathology (process)|Skin disease IMMUNODEFICIENCY 110 WITH LYMPHOPROLIFERATION OMIM:614868 MESH:D001327|MESH:D001423|MESH:D006330|MESH:D007153 C01.150/614868|C14.240.400/614868|C14.280.400/614868|C16.131.240.400/614868|C20.111/614868|C20.673/614868 C01.150|C14.240.400|C14.280.400|C16.131.240.400|C20.111|C20.673 IMD110|MST1 DEFICIENCY|STK4 DEFICIENCY|T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS|TIIAC Bacterial infection or mycosis|Cardiovascular disease|Congenital abnormality|Immune system disease IMMUNODEFICIENCY 11A OMIM:615206 DO:DOID:0111957 MESH:D007153 C20.673/615206 C20.673 CARD11 IMMUNODEFICIENCY|IMD11|IMD11A|IMMUNODEFICIENCY 11 Immune system disease IMMUNODEFICIENCY 12 OMIM:615468 DO:DOID:0111988 MESH:D007153 C20.673/615468 C20.673 IMD12 Immune system disease IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT OMIM:615513 DO:DOID:0111936 MESH:D007153 C20.673/615513 C20.673 ACTIVATED PI3K-DELTA SYNDROME|APDS|IMD14A|p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY|PASLI Immune system disease IMMUNODEFICIENCY 15B OMIM:615592 DO:DOID:0111959 MESH:D007153 C20.673/615592 C20.673 IMD15B Immune system disease IMMUNODEFICIENCY 16 OMIM:615593 DO:DOID:0111935 MESH:D007153 C20.673/615593 C20.673 IMD16|OX40 DEFICIENCY Immune system disease IMMUNODEFICIENCY 17 OMIM:615607 DO:DOID:0111973 MESH:D007153 C20.673/615607 C20.673 CD3-GAMMA DEFICIENCY|IMD17|SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE Immune system disease IMMUNODEFICIENCY 18 OMIM:615615 DO:DOID:0111971 MESH:D007153 C20.673/615615 C20.673 CD3-EPSILON DEFICIENCY IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED|IMD18|IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED Immune system disease IMMUNODEFICIENCY 19 OMIM:615617 DO:DOID:0111972 MESH:D007153 C20.673/615617 C20.673 CD3-DELTA DEFICIENCY|IMD19|SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE|SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE Immune system disease IMMUNODEFICIENCY 20 OMIM:615707 DO:DOID:0111941 MESH:D007153 C20.673/615707 C20.673 IMD20 Immune system disease IMMUNODEFICIENCY 21 OMIM:614172 DO:DOID:0111947 MESH:D007153 C20.673/614172 C20.673 COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS|DCML|DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY|GATA2 DEFICIENCY|IMD21|MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME|MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA|MONOMAC Immune system disease IMMUNODEFICIENCY 22 OMIM:615758 DO:DOID:0111937 MESH:D007153 C20.673/615758 C20.673 IMD22 Immune system disease IMMUNODEFICIENCY 23 OMIM:615816 DO:DOID:0111953 MESH:D007153 C20.673/615816 C20.673 IMD23|IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME|IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT|IVMS Immune system disease IMMUNODEFICIENCY 24 OMIM:615897 DO:DOID:0111938 MESH:D007153 C20.673/615897 C20.673 IMD24 Immune system disease IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES OMIM:615966 DO:DOID:0111961 MESH:D007153|MESH:D009461 C10.597/615966|C20.673/615966|C23.888.592/615966 C10.597|C20.673|C23.888.592 IMD26 Immune system disease|Nervous system disease|Signs and symptoms IMMUNODEFICIENCY 27B OMIM:615978 DO:DOID:0111956 MESH:D007153 C20.673/615978 C20.673 IFNGR1 DEFICIENCY, AUTOSOMAL DOMINANT|IMD27B|IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT Immune system disease IMMUNODEFICIENCY 28 OMIM:614889 DO:DOID:0111995 MESH:D007153 C20.673/614889 C20.673 IFNGR2 DEFICIENCY|IMD28|IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE Immune system disease IMMUNODEFICIENCY 29 OMIM:614890 DO:DOID:0111950 MESH:D007153 C20.673/614890 C20.673 IL12B DEFICIENCY|IMD29 Immune system disease IMMUNODEFICIENCY 30 OMIM:614891 DO:DOID:0111990 MESH:D007153 C20.673/614891 C20.673 IL12RB1 DEFICIENCY|IMD30 Immune system disease IMMUNODEFICIENCY 31A OMIM:614892 DO:DOID:0111945 MESH:D007153 C20.673/614892 C20.673 IMD31A|IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT|STAT1 DEFICIENCY, AUTOSOMAL DOMINANT Immune system disease IMMUNODEFICIENCY 31B OMIM:613796 DO:DOID:0111944 MESH:D007153 C20.673/613796 C20.673 IMD31B|IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE|STAT1 DEFICIENCY, AUTOSOMAL RECESSIVE Immune system disease IMMUNODEFICIENCY 31C OMIM:614162 DO:DOID:0111946|DO:DOID:2058 MESH:D007153 C20.673/614162 C20.673 CANDF7|CANDIDIASIS, FAMILIAL, 7|CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT|IMD31C Immune system disease IMMUNODEFICIENCY 32A OMIM:614893 DO:DOID:0111986 MESH:D007153 C20.673/614893 C20.673 CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL DOMINANT|IMD32A|IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT|IRF8 DEFICIENCY, AUTOSOMAL DOMINANT Immune system disease IMMUNODEFICIENCY 32B OMIM:226990 DO:DOID:0111985 MESH:D007153 C20.673/226990 C20.673 EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY|IMD32B|IMMUNODEFICIENCY 32B, MONOCYTE, DENDRITIC CELL, AND NATURAL KILLER CELL DEFICIENCY, AUTOSOMAL RECESSIVE|IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE Immune system disease IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION OMIM:616005 DO:DOID:0111949 MESH:D007153 C20.673/616005 C20.673 IMD36 Immune system disease IMMUNODEFICIENCY 37 OMIM:616098 DO:DOID:0111939 MESH:D007153 C20.673/616098 C20.673 IMD37 Immune system disease IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION OMIM:616126 DO:DOID:0111934 MESH:D001480|MESH:D002114|MESH:D007153 C10.228.140.079/616126|C18.452.174.130/616126|C20.673/616126 C10.228.140.079|C18.452.174.130|C20.673 IMD38|IMMUNODEFICIENCY 38, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE|ISG15 DEFICIENCY, AUTOSOMAL RECESSIVE Immune system disease|Metabolic disease|Nervous system disease IMMUNODEFICIENCY 39 OMIM:616345 DO:DOID:0111969 MESH:D007153 C20.673/616345 C20.673 IMD39 Immune system disease IMMUNODEFICIENCY 40 OMIM:616433 DO:DOID:0111951 MESH:D007153 C20.673/616433 C20.673 IMD40 Immune system disease IMMUNODEFICIENCY 42 OMIM:616622 DO:DOID:0111940 MESH:D007153 C20.673/616622 C20.673 IMD42 Immune system disease IMMUNODEFICIENCY 44 OMIM:616636 DO:DOID:0111975 MESH:D007153 C20.673/616636 C20.673 IMD44 Immune system disease IMMUNODEFICIENCY 45 OMIM:616669 DO:DOID:0111994 MESH:D007153 C20.673/616669 C20.673 IMD45 Immune system disease IMMUNODEFICIENCY 46 OMIM:616740 DO:DOID:0111948 MESH:D007153 C20.673/616740 C20.673 IMD46 Immune system disease IMMUNODEFICIENCY 47 OMIM:300972 DO:DOID:0112002 MESH:D007153 C20.673/300972 C20.673 CDG2S|CDG IIs|CDGIIs|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIs|IMD47|IMMUNODEFICIENCY AND HEPATOPATHY WITH OR WITHOUT NEUROLOGIC FEATURES Immune system disease IMMUNODEFICIENCY 48 OMIM:269840 DO:DOID:0111943 MESH:D007153 C20.673/269840 C20.673 IMD48|SELECTIVE T-CELL DEFECT|STCD Immune system disease IMMUNODEFICIENCY 49 OMIM:617237 DO:DOID:0111979 MESH:D007153 C20.673/617237 C20.673 IMD49|SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES|SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES Immune system disease IMMUNODEFICIENCY 50 OMIM:300988 DO:DOID:0112001 MESH:D007153 C20.673/300988 C20.673 IMD50|IMMUNODEFICIENCY 50, X-LINKED RECESSIVE Immune system disease IMMUNODEFICIENCY 51 OMIM:613953 DO:DOID:0111996 MESH:D007153 C20.673/613953 C20.673 CANDF5, FORMERLY|CANDIDIASIS, FAMILIAL, 5, FORMERLY|IMD51 Immune system disease IMMUNODEFICIENCY 54 OMIM:609981 DO:DOID:0111967 MESH:D007153|MESH:D049914 C18.452.284/609981|C20.673/609981 C18.452.284|C20.673 IMD54|NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT|NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED|NKCD|NKGCD Immune system disease|Metabolic disease IMMUNODEFICIENCY 56 OMIM:615207 DO:DOID:0111982 MESH:D007153 C20.673/615207 C20.673 IL21R IMMUNODEFICIENCY|IMD56 Immune system disease IMMUNODEFICIENCY 7 OMIM:615387 DO:DOID:0111977 MESH:D007153 C20.673/615387 C20.673 IMD7|T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY|TCR-ALPHA/BETA DEFICIENCY Immune system disease IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION OMIM:615401 DO:DOID:0060019 MESH:D007153 C20.673/615401 C20.673 IMD8 Immune system disease IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY, FUNCTIONAL HYPOSPLENIA, AND HEPATIC DYSFUNCTION OMIM:613759 MESH:D001927|MESH:D007153|MESH:D007239|MESH:D008107|MESH:D018376 C01/613759|C06.552/613759|C10.228.140/613759|C14.240/613759|C16.131.240/613759|C20.673/613759 C01|C06.552|C10.228.140|C14.240|C16.131.240|C20.673 FADD DEFICIENCY|IMD90|INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS Cardiovascular disease|Congenital abnormality|Digestive system disease|Immune system disease|Nervous system disease IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 OMIM:242860 DO:DOID:0090008 MESH:C537362|MESH:D002869|MESH:D019465 C05.660.207/242860|C16.131.621.207/242860|C16.320.798/C537362/242860|C20.673.795/C537362/242860|C23.550.210/242860 C05.660.207|C16.131.621.207|C16.320.798/C537362|C20.673.795/C537362|C23.550.210 CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME|CIID|ICF1|IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16|IMMUNODEFICIENCY SYNDROME, VARIABLE Congenital abnormality|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease|Pathology (process) IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 OMIM:614069 DO:DOID:0090009 MESH:C537362|MESH:D002869|MESH:D019465 C05.660.207/614069|C16.131.621.207/614069|C16.320.798/C537362/614069|C20.673.795/C537362/614069|C23.550.210/614069 C05.660.207|C16.131.621.207|C16.320.798/C537362|C20.673.795/C537362|C23.550.210 ICF2 Congenital abnormality|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease|Pathology (process) IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 OMIM:616910 DO:DOID:0090010 MESH:C537362|MESH:D002869|MESH:D019465 C05.660.207/616910|C16.131.621.207/616910|C16.320.798/C537362/616910|C20.673.795/C537362/616910|C23.550.210/616910 C05.660.207|C16.131.621.207|C16.320.798/C537362|C20.673.795/C537362|C23.550.210 ICF3 Congenital abnormality|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease|Pathology (process) IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 OMIM:616911 DO:DOID:0090011 MESH:C537362|MESH:D002869|MESH:D019465 C05.660.207/616911|C16.131.621.207/616911|C16.320.798/C537362/616911|C20.673.795/C537362/616911|C23.550.210/616911 C05.660.207|C16.131.621.207|C16.320.798/C537362|C20.673.795/C537362|C23.550.210 ICF4 Congenital abnormality|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease|Pathology (process) IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY OMIM:614700 DO:DOID:0081151 MESH:D017074 C20.673.330/614700 C20.673.330 CVID8 Immune system disease Immunodeficiency due to Defect in CD3-Epsilon MESH:C566082 MESH:D007153 C20.673/C566082 C20.673 Immune system disease Immunodeficiency due to Defect in CD3-Gamma MESH:C566083 MESH:D007153 C20.673/C566083 C20.673 Immune system disease Immunodeficiency due to Defect in CD3-Zeta MESH:C565712 DO:DOID:0111942|OMIM:610163 MESH:D000081207 C16.320.798/C565712|C20.673.795/C565712 C16.320.798|C20.673.795 IMD25|IMMUNODEFICIENCY 25|IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA Genetic disease (inborn)|Immune system disease Immunodeficiency due to Defect in MAPBP-Interacting Protein MESH:C563663 OMIM:610798 MESH:D007153 C20.673/C563663 C20.673 Immune system disease Immunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis MESH:C567457 MESH:D006059|MESH:D007153|MESH:D011658 C08.381.483.652/C567457|C12.050.351.875.253.309/C567457|C12.200.706.316.309/C567457|C12.800.316.309/C567457|C16.131.939.316.309/C567457|C19.391.119.309/C567457|C20.673/C567457|C23.550.355.644/C567457 C08.381.483.652|C12.050.351.875.253.309|C12.200.706.316.309|C12.800.316.309|C16.131.939.316.309|C19.391.119.309|C20.673|C23.550.355.644 Congenital abnormality|Endocrine system disease|Immune system disease|Pathology (process)|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells MESH:C567200 MESH:D000081207 C16.320.798/C567200|C20.673.795/C567200 C16.320.798|C20.673.795 CD79B Deficiency|IgB Deficiency Genetic disease (inborn)|Immune system disease Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes MESH:C565468 MESH:D007153 C20.673/C565468 C20.673 Immune system disease Immunodeficiency syndrome, variable MESH:C537362 MESH:D000081207 C16.320.798/C537362|C20.673.795/C537362 C16.320.798|C20.673.795 Centromeric instability, immunodeficiency syndrome|ICF syndrome|Immunodeficiency-centromeric instability-facial anomalies syndrome Genetic disease (inborn)|Immune system disease Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist MESH:C564135 MESH:D007153 C20.673/C564135 C20.673 Immune system disease Immunodeficiency With Hyper-Igm, Type 4 MESH:C564277 MESH:D053306 C15.378.147.333.249/C564277|C16.320.413/C564277|C16.320.798.625/C564277|C20.673.430.250/C564277|C20.673.795.625/C564277 C15.378.147.333.249|C16.320.413|C16.320.798.625|C20.673.430.250|C20.673.795.625 Hyper-Igm Syndrome 4 Blood disease|Genetic disease (inborn)|Immune system disease Immunodeficiency without anhidrotic ectodermal dysplasia MESH:C536289 MESH:D007153 C20.673/C536289 C20.673 Immunodeficiency, isolated|Immunodeficiency, pure Immune system disease Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein MESH:C564120 MESH:D000081207|MESH:D040181 C16.320.322/C564120|C16.320.798/C564120|C20.673.795/C564120 C16.320.322|C16.320.798|C20.673.795 Gpl115 Deficiency Genetic disease (inborn)|Immune system disease IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA OMIM:300853 DO:DOID:0080319 MESH:D001327 C20.111/300853 C20.111 XMEN Immune system disease Immunoglobulin a deficiency 1 MESH:C536290 OMIM:137100 MESH:D017098 C15.378.147.333.500/C536290|C20.673.430.500/C536290 C15.378.147.333.500|C20.673.430.500 Gamma-a-globulin, selective deficiency of|IGAD1|Iga, selective deficiency of|Immunoglobulin a, selective deficiency of Blood disease|Immune system disease Immunoglobulin a deficiency 2 MESH:C536291 OMIM:609529 MESH:D017098 C15.378.147.333.500/C536291|C20.673.430.500/C536291 C15.378.147.333.500|C20.673.430.500 IGAD2|Iga, selective deficiency of, taci-related|Immunoglobulin a, selective deficiency of, taci-related Blood disease|Immune system disease Immunoglobulin G4-Related Disease MESH:D000077733 A spectrum of systemic autoimmune diseases in which IMMUNOGLOBULIN G4 plays a pathophysiologic role. It can affect multiple organs in highly variable presentations, characterized by inflammatory lesions composed of IgG4-positive PLASMA CELLS, further infiltrated by T helper cells (T-LYMPHOCYTES, HELPER-INDUCER) when linked to progressive FIBROSIS and eventual organ damage. MESH:D001327 C20.111.572 C20.111 Autoimmune Disease, IgG4-Associated|IgG4 Associated Autoimmune Disease|IgG4-Associated Autoimmune Disease|IgG4-Associated Autoimmune Diseases|IgG4-RD|IgG4 Related Disease|IgG4-Related Disease|IgG4-Related Diseases|IgG4 Related Kidney Disease|IgG4-Related Kidney Disease|IgG4-Related Kidney Diseases|IgG4 Related Sclerosing Disease|IgG4-Related Sclerosing Disease|IgG4-Related Sclerosing Diseases|IgG4 Related Systemic Disease|Immunoglobulin G4 Related Disease|Immunoglobulin G4-Related Diseases|Immunoglobulin G4 Related Kidney Disease|Immunoglobulin G4-Related Kidney Disease|Immunoglobulin G4 Related Sclerosing Disease|Immunoglobulin G4-Related Sclerosing Disease|Kidney Disease, IgG4-Related|Sclerosing Disease, IgG4-Related Immune system disease IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY OMIM:614102 MESH:D007153 C20.673/614102 C20.673 IGKCD|KAPPA CHAIN DEFICIENCY Immune system disease Immunoglobulin Light-chain Amyloidosis MESH:D000075363 DO:DOID:0080933 A nonproliferative disorder of the PLASMA CELL characterized by excessive production and misfolding of IMMUNOGLOBULIN LIGHT CHAINS that form insoluble amyloid fibrils (see AMYLOID DEPOSITS) in various tissues. Clinical features include LIVER FAILURE; MULTIPLE MYELOMA; NEPHROTIC SYNDROME; RESTRICTIVE CARDIOMYOPATHY, and neuropathies. MESH:D000686|MESH:D008232|MESH:D010265|MESH:D054219 C04.557.595.250|C18.452.845.500.550|C20.683.515.507|C20.683.780.565 C04.557.595|C18.452.845.500|C20.683.515|C20.683.780 AL Amyloidoses|AL Amyloidosis|Amyloidoses, Primary|Amyloidoses, Primary Systemic|Amyloidosis, Immunoglobulin Light chain|Amyloidosis, Immunoglobulin Light-chain|Amyloidosis, Primary|Amyloidosis, Primary Systemic|Immunoglobulin Light-chain Amyloidoses|Immunoglobulin Light chain Amyloidosis|Primary Amyloidoses|Primary Amyloidosis|Primary Systemic Amyloidoses|Primary Systemic Amyloidosis|Systemic Amyloidoses, Primary|Systemic Amyloidosis, Primary Cancer|Immune system disease|Metabolic disease Immuno-hemolytic anemia MESH:C538437 MESH:D000744 C15.378.071.141.125/C538437|C20.111.175/C538437 C15.378.071.141.125|C20.111.175 Familial auto-immune hemolytic anemia Blood disease|Immune system disease Immunologic Deficiency Syndromes MESH:D007153 DO:DOID:612 Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. MESH:D007154 C20.673 C20 Antibody Deficiency Syndrome|Antibody Deficiency Syndromes|Deficiency Syndrome, Antibody|Deficiency Syndrome, Immunologic|Deficiency Syndrome, Immunological|Deficiency Syndromes, Antibody|Deficiency Syndromes, Immunologic|Deficiency Syndromes, Immunological|Immunological Deficiency Syndrome|Immunological Deficiency Syndromes|Immunologic Deficiency Syndrome|Syndrome, Antibody Deficiency|Syndrome, Immunological Deficiency|Syndrome, Immunologic Deficiency|Syndromes, Antibody Deficiency|Syndromes, Immunological Deficiency|Syndromes, Immunologic Deficiency Immune system disease Immunoproliferative Disorders MESH:D007160 DO:DOID:2916 Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins. MESH:D007154 C20.683 C20 Disorder, Immunoproliferative|Disorders, Immunoproliferative|Immunoproliferative Disorder Immune system disease Immunoproliferative Small Intestinal Disease MESH:D007161 A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA. MESH:D006362|MESH:D007414|MESH:D008223|MESH:D008232 C04.557.386.390|C06.301.371.411.512|C06.405.249.411.512|C06.405.469.491.505|C15.378.147.780.490.512|C15.604.515.435.512|C20.683.515.512|C20.683.780.490.512 C04.557.386|C06.301.371.411|C06.405.249.411|C06.405.469.491|C15.378.147.780.490|C15.604.515.435|C20.683.515|C20.683.780.490 alpha Chain Disease|alpha-Chain Disease|alpha-Chain Diseases|Disease, alpha-Chain|Diseases, alpha-Chain|Heavy Chain Disease, IgA Type|IPSID|Lymphoma, Mediterranean|Mediterranean Lymphoma Blood disease|Cancer|Digestive system disease|Immune system disease|Lymphatic disease IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES OMIM:617425 MESH:D009139|MESH:D010009|MESH:D016511 C05.116.099.708/617425|C05.660/617425|C16.131.621/617425|C16.320.728/617425|C16.320.798.750/617425|C16.614.815/617425|C18.452.284.800/617425|C20.673.795.750/617425 C05.116.099.708|C05.660|C16.131.621|C16.320.728|C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 ISDNA Congenital abnormality|Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease|Musculoskeletal disease IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS OMIM:616789 MESH:D006330|MESH:D008607|MESH:D019465 C05.660.207/616789|C10.597.606.360/616789|C14.240.400/616789|C14.280.400/616789|C16.131.240.400/616789|C16.131.621.207/616789|C23.888.592.604.646/616789|F03.625.539/616789 C05.660.207|C10.597.606.360|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207|C23.888.592.604.646|F03.625.539 ASADOLLAHI-RAUCH SYNDROME|MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS|MRFACD Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS OMIM:613671 MESH:D007569|MESH:D008607|MESH:D013285 C05.500.460/613671|C05.660.207.540.460/613671|C07.320.440/613671|C07.650.500.460/613671|C10.292.562.887/613671|C10.597.606.360/613671|C11.590.810/613671|C16.131.621.207.540.460/613671|C16.131.850.500.460/613671|C23.888.592.604.646/613671|F03.625.539/613671 C05.500.460|C05.660.207.540.460|C07.320.440|C07.650.500.460|C10.292.562.887|C10.597.606.360|C11.590.810|C16.131.621.207.540.460|C16.131.850.500.460|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS|MRAMS Congenital abnormality|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Impetigo MESH:D007169 DO:DOID:8504 A common superficial bacterial infection caused by STAPHYLOCOCCUS AUREUS or group A beta-hemolytic streptococci. Characteristics include pustular lesions that rupture and discharge a thin, amber-colored fluid that dries and forms a crust. This condition is commonly located on the face, especially about the mouth and nose. MESH:D013207|MESH:D013290 C01.150.252.410.868.951.360|C01.150.252.410.890.587|C01.150.252.819.770.360|C01.800.720.770.360|C17.800.838.765.770.360 C01.150.252.410.868.951|C01.150.252.410.890|C01.150.252.819.770|C01.800.720.770|C17.800.838.765.770 Contagiosa, Impetigo|Contagiosas, Impetigo|Impetigo Contagiosa|Impetigo Contagiosas|Impetigos Bacterial infection or mycosis|Skin disease Implant Capsular Contracture MESH:D057910 The shrinkage of the foreign body encapsulation scar tissue that forms around artificial implants imbedded in body tissues. MESH:D005549|MESH:D011475 C23.550.470.251.500|C23.550.767.865.500 C23.550.470.251|C23.550.767.865 Capsular Contracture, Implant|Contracture, Implant Capsular Pathology (process) imposter syndrome MESH:C000711547 MESH:D001008 F03.080/C000711547 F03.080 imposter phenomenon|impostor phenomenon|impostor syndrome Mental disorder Impotence, Vasculogenic MESH:D018783 DO:DOID:4762 Inability to achieve and maintain an erection (ERECTILE DYSFUNCTION) due to defects in the arterial blood flow to the PENIS, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both. MESH:D007172 C12.100.500.214.500|C12.100.875.486.500|C12.200.294.214.500 C12.100.500.214|C12.100.875.486|C12.200.294.214 Arteriogenic Impotence|Impotence, Arteriogenic|Impotence, Venogenic|Leakage, Penile Venous|Penile Venous Leakage|Vasculogenic Impotence|Venogenic Impotence|Venous Leakage, Penile Urogenital disease (male) Inappropriate ADH Syndrome MESH:D007177 DO:DOID:3401 A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced. MESH:D010900|MESH:D014883 C10.228.140.617.738.320|C18.452.950.626|C19.700.490 C10.228.140.617.738|C18.452.950|C19.700 ADH Syndrome, Inappropriate|Antidiuretic Hormone, Inappropriate Secretion|Inappropriate Vasopressin Secretion Syndrome|Schwartz Bartter Syndrome|Schwartz-Bartter Syndrome|SIADH|Syndrome, Inappropriate ADH|Syndrome of Inappropriate ADH (SIADH) Secretion|Syndrome, Schwartz-Bartter Endocrine system disease|Metabolic disease|Nervous system disease Incisional Hernia MESH:D000069290 Protrusion of tissue at or near the site of an incision from a previous surgery. MESH:D006547|MESH:D011183 C23.300.707.945|C23.550.767.500 C23.300.707|C23.550.767 Hernia, Incisional|Hernia, Postoperative|Hernias, Incisional|Hernias, Postoperative|Incisional Hernias|Postoperative Hernia|Postoperative Hernias Pathology (anatomical condition)|Pathology (process) Inclusion Body Myopathy 3, Autosomal Dominant MESH:C565311 OMIM:605637 MESH:D003286|MESH:D009886|MESH:D018979 C05.550.323/C565311|C05.651.197/C565311|C05.651.594.600/C565311|C10.292.562.750/C565311|C10.597.622.447/C565311|C10.668.491.562.500/C565311|C11.590.472/C565311|C23.888.592.636.447/C565311 C05.550.323|C05.651.197|C05.651.594.600|C10.292.562.750|C10.597.622.447|C10.668.491.562.500|C11.590.472|C23.888.592.636.447 CMYP6|CONGENITAL MYOPATHY 6 WITH OPHTHALMOPLEGIA|IBM3, FORMERLY|INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT, FORMERLY|MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA|Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles|MYPOP Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Inclusion body myopathy, autosomal dominant MESH:C538330 MESH:D003286|MESH:D009886|MESH:D018979 C05.550.323/C538330|C05.651.197/C538330|C05.651.594.600/C538330|C10.292.562.750/C538330|C10.597.622.447/C538330|C10.668.491.562.500/C538330|C11.590.472/C538330|C23.888.592.636.447/C538330 C05.550.323|C05.651.197|C05.651.594.600|C10.292.562.750|C10.597.622.447|C10.668.491.562.500|C11.590.472|C23.888.592.636.447 Inclusion body myopathy 3 Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Inclusion body myopathy autosomal recessive MESH:C538329 DO:DOID:0080718 MESH:D018979 C05.651.594.600/C538329|C10.668.491.562.500/C538329 C05.651.594.600|C10.668.491.562.500 Inclusion body myopathy 2, autosomal recessive|Inclusion Body Myopathy, Autosomal Recessive|Inclusion body myopathy quadriceps sparing|Inclusion Body Myopathy, Quadriceps-Sparing Musculoskeletal disease|Nervous system disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia MESH:C563476 DO:DOID:0050881|OMIM:167320|OMIM:615422|OMIM:615424 MESH:D010001|MESH:D018979|MESH:D049288|MESH:D057180 C05.116.692/C563476|C05.651.534.500.280/C563476|C05.651.594.600/C563476|C10.228.140.380.266.299/C563476|C10.574.950.300.299/C563476|C10.668.491.175.500.149/C563476|C10.668.491.562.500/C563476|C16.320.577.280/C563476|C18.452.845.800.300.299/C563476|F03.615.400.380.299/C563476 C05.116.692|C05.651.534.500.280|C05.651.594.600|C10.228.140.380.266.299|C10.574.950.300.299|C10.668.491.175.500.149|C10.668.491.562.500|C16.320.577.280|C18.452.845.800.300.299|F03.615.400.380.299 IBMPFD|IBMPFD1|IBMPFD2|IBMPFD3|Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and-or Frontotemporal Dementia|INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1|INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2|INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3|Inclusion Body Myopathy with Paget Disease of Bone and-or Frontotemporal Dementia|Lower Motor Neuron Degeneration With Paget-Like Bone Disease|MSP1|MSP2|MSP3|MULTISYSTEM PROTEINOPATHY 1|MULTISYSTEM PROTEINOPATHY 2|MULTISYSTEM PROTEINOPATHY 3|Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone|Pagetoid Amyotrophic Lateral Sclerosis|Pagetoid Neuroskeletal Syndrome Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease Incomplete Sertoli Cell-Only Syndrome MESH:C564033 MESH:D053713 C12.100.500.430.380/C564033|C12.100.750.700.380/C564033|C12.200.294.430.380/C564033 C12.100.500.430.380|C12.100.750.700.380|C12.200.294.430.380 Urogenital disease (male) Incontinentia Pigmenti MESH:D007184 DO:DOID:12305|OMIM:308300 A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages. MESH:D000015|MESH:D010859|MESH:D012868|MESH:D012873 C16.131.077.445|C16.131.831.580|C16.320.850.420|C17.800.621.497|C17.800.804.580|C17.800.827.420 C16.131.077|C16.131.831|C16.320.850|C17.800.621|C17.800.804|C17.800.827 Bloch-Siemens-Sulzberger Syndrome|Bloch-Siemens Syndrome|Bloch Sulzberger Syndrome|Bloch-Sulzberger Syndrome|INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE|INCONTINENTIA PIGMENTI, TYPE II, FORMERLY|IP|IP2, FORMERLY|Syndrome, Bloch-Sulzberger Congenital abnormality|Genetic disease (inborn)|Skin disease Incontinentia pigmenti, familial male-lethal type MESH:C531716 MESH:D007184 C16.131.077.445/C531716|C16.131.831.580/C531716|C16.320.850.420/C531716|C17.800.621.497/C531716|C17.800.804.580/C531716|C17.800.827.420/C531716 C16.131.077.445|C16.131.831.580|C16.320.850.420|C17.800.621.497|C17.800.804.580|C17.800.827.420 Congenital abnormality|Genetic disease (inborn)|Skin disease Indifference to Pain, Congenital, Autosomal Dominant MESH:C564128 MESH:D000699 C10.668.829.700/C564128|C16.320.775/C564128 C10.668.829.700|C16.320.775 Congenital Analgesia, Autosomal Dominant Genetic disease (inborn)|Nervous system disease Indifference to Pain, Congenital, Autosomal Recessive MESH:C565467 OMIM:243000 MESH:D000699|MESH:D053447 C10.668.829.700/C565467|C16.320.775/C565467|C23.550.177/C565467 C10.668.829.700|C16.320.775|C23.550.177 Asymbolia for Pain|ASYMBOLIA FOR PAIN NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED|CIP|Congenital Analgesia, Autosomal Recessive|HSAN2D, INCLUDED|Insensitivity to Pain, Channelopathy-Associated Genetic disease (inborn)|Nervous system disease|Pathology (process) Indolylacroyl Glycinuria with Mental Retardation MESH:C565466 MESH:D000592|MESH:D008607 C10.597.606.360/C565466|C16.320.565.100/C565466|C18.452.648.100/C565466|C23.888.592.604.646/C565466|F03.625.539/C565466 C10.597.606.360|C16.320.565.100|C18.452.648.100|C23.888.592.604.646|F03.625.539 Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Inert Gas Narcosis MESH:D007222 Progressive mental disturbances and unconsciousness due to breathing mixtures of oxygen and inert gases (argon, helium, xenon, krypton, and atmospheric nitrogen) at high pressure. MESH:D005739|MESH:D009784 C24.426|C25.723.455.571 C24|C25.723.455 Depth Intoxication|Depth Intoxications|Inert Gas Narcoses|Intoxication, Depth|Intoxications, Depth|Narcoses, Inert Gas|Narcoses, Nitrogen|Narcosis, Inert Gas|Narcosis, Nitrogen|Nitrogen Narcoses|Nitrogen Narcosis Occupational disease Infant Death MESH:D066088 The death of a live-born INFANT within its first year of life. MESH:D003643 C23.550.260.657 C23.550.260 Death, Infant|Deaths, Infant|Infant Deaths Pathology (process) INFANTILE CEREBELLAR-RETINAL DEGENERATION OMIM:614559 DO:DOID:0050883 MESH:D001264|MESH:D009896|MESH:D011596|MESH:D012162 C10.292.700.225/614559|C10.597.350.110/614559|C10.597.606.881/614559|C11.270.612/614559|C11.640.451/614559|C11.768.585/614559|C23.888.592.350.110/614559|C23.888.592.604.882/614559 C10.292.700.225|C10.597.350.110|C10.597.606.881|C11.270.612|C11.640.451|C11.768.585|C23.888.592.350.110|C23.888.592.604.882 ICRD Eye disease|Nervous system disease|Signs and symptoms Infantile convulsions and paroxysmal choreoathetosis, familial MESH:C535522 OMIM:602066 MESH:D012640|MESH:D020820|MESH:D020936 C10.228.140.490.370/C535522|C10.228.662.262/C535522|C10.597.350/C535522|C10.597.742/C535522|C16.614.258/C535522|C23.888.592.350/C535522|C23.888.592.742/C535522 C10.228.140.490.370|C10.228.662.262|C10.597.350|C10.597.742|C16.614.258|C23.888.592.350|C23.888.592.742 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS|Convulsions, infantile, with paroxysmal choreoathetosis, familial|ICCA|ICCA Infantile convulsions and choreoathetosis|ICCA SYNDROME|INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL|PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS|PKD/IC Infant-newborn disease|Nervous system disease|Signs and symptoms Infantile Epileptic-Dyskinetic Encephalopathy MESH:C567924 OMIM:308350 MESH:D013036 C10.228.140.490.375.760/C567924|C10.228.140.490.493.875/C567924 C10.228.140.490.375.760|C10.228.140.490.493.875 DEE1|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1|Early Infantile Epileptic Encephalopathy|EIEE1|Epileptic Encephalopathy, Early Infantile, 1|INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY|Infantile Spasm Syndrome, X-Linked 1|ISSX1|Ohtahara Syndrome|OHTAHARA SYNDROME, X-LINKED|West Syndrome, X-Linked|X-linked infantile spasms|X-linked infantile spasm syndrome|X-Linked West Syndrome|XMESID Nervous system disease INFANTILE LIVER FAILURE SYNDROME 1 OMIM:615438 DO:DOID:0080717 MESH:D017093 C06.552.308.500/615438 C06.552.308.500 ILFS1 Digestive system disease INFANTILE LIVER FAILURE SYNDROME 2 OMIM:616483 MESH:D017093 C06.552.308.500/616483 C06.552.308.500 ILFS2 Digestive system disease Infantile onset spinocerebellar ataxia MESH:C535523 DO:DOID:0080126 MESH:D013132 C10.228.140.252.700/C535523|C10.228.854.787/C535523|C10.574.500.825/C535523|C16.320.400.780/C535523 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 Infantile-Onset Spinocerebellar Ataxia|OHAHA Syndrome|Ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis|Spinocerebellar ataxia infantile with sensory neuropathy|Spinocerebellar Ataxia, Infantile, with Sensory Neuropathy Genetic disease (inborn)|Nervous system disease Infantile polyarteritis MESH:C537014 MESH:D009080 C14.907.940.560/C537014|C15.604.560/C537014|C17.800.862.560/C537014 C14.907.940.560|C15.604.560|C17.800.862.560 Cardiovascular disease|Lymphatic disease|Skin disease Infantile polymyoclonus MESH:C535524 MESH:D053578 C04.588.614.550.600/C535524|C04.730.856.596/C535524|C10.228.758.500/C535524|C10.292.562.831/C535524|C10.574.781.662/C535524|C10.597.350.500.500/C535524|C11.590.725/C535524 C04.588.614.550.600|C04.730.856.596|C10.228.758.500|C10.292.562.831|C10.574.781.662|C10.597.350.500.500|C11.590.725 Polymyoclonus, infantile Cancer|Eye disease|Nervous system disease Infant, Newborn, Diseases MESH:D007232 Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts. MESH:D009358 C16.614 C16 Disease, Neonatal|Diseases, Neonatal|Neonatal Disease|Neonatal Diseases Infant-newborn disease Infant Nutrition Disorders MESH:D007228 Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in infants ages 1 month to 24 months. MESH:D009748 C18.654.422 C18.654 Infantile Malnutrition|Infant Malnutrition|Infant Nutrition Disorder|Infant Overnutrition|Malnutrition, Infant|Malnutrition, Infantile|Malnutrition in Infant|Malnutrition in Infants|Nutrition Disorder, Infant|Nutrition Disorders, Infant|Overnutrition, Infant Nutrition disorder Infant, Premature, Diseases MESH:D007235 Diseases that occur in PREMATURE INFANTS. MESH:D007232 C16.614.521 C16.614 Infant-newborn disease Infarction MESH:D007238 Formation of an infarct, which is NECROSIS in tissue due to local ISCHEMIA resulting from obstruction of BLOOD CIRCULATION, most commonly by a THROMBUS or EMBOLUS. MESH:D007511|MESH:D009336 C23.550.513.355|C23.550.717.489 C23.550.513|C23.550.717 Infarct|Infarctions|Infarcts Pathology (process) Infarction, Anterior Cerebral Artery MESH:D020243 DO:DOID:3528 NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body. MESH:D002539|MESH:D002544 C10.228.140.300.150.477.200.400|C10.228.140.300.510.200.325|C10.228.140.300.775.200.200.400|C14.907.253.092.477.200.400|C14.907.253.560.200.325|C14.907.253.855.200.200.400|C23.550.513.355.250.200.400|C23.550.717.489.250.200.400 C10.228.140.300.150.477.200|C10.228.140.300.510.200|C10.228.140.300.775.200.200|C14.907.253.092.477.200|C14.907.253.560.200|C14.907.253.855.200.200|C23.550.513.355.250.200|C23.550.717.489.250.200 ACA Infarct|ACA Infarction|ACA Infarctions|ACA Infarcts|Anterior Cerebral Artery Infarction|Anterior Cerebral Artery Stroke|Anterior Cerebral Artery Syndrome|Artery Infarction, Heubner|Artery Infarction, Heubner's|Heubner Artery Infarction|Heubner's Artery Infarction|Heubners Artery Infarction|Infarct, ACA|Infarction, ACA|Infarction, Anterior Cerebral Artery Circulation|Infarction, Anterior Cerebral Artery Distribution|Infarction, Heubner Artery|Infarction, Heubner's Artery|Infarctions, ACA|Infarcts, ACA|Stroke, Anterior Cerebral Artery|Syndrome, Anterior Cerebral Artery Cardiovascular disease|Nervous system disease|Pathology (process) Infarction, Middle Cerebral Artery MESH:D020244 DO:DOID:3525 NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction. MESH:D002539|MESH:D002544 C10.228.140.300.150.477.200.450|C10.228.140.300.510.200.387|C10.228.140.300.775.200.200.450|C14.907.253.092.477.200.450|C14.907.253.560.200.387|C14.907.253.855.200.200.450|C23.550.513.355.250.200.450|C23.550.717.489.250.200.450 C10.228.140.300.150.477.200|C10.228.140.300.510.200|C10.228.140.300.775.200.200|C14.907.253.092.477.200|C14.907.253.560.200|C14.907.253.855.200.200|C23.550.513.355.250.200|C23.550.717.489.250.200 Cerebral Infarction, Middle Cerebral Artery|Embolic Infarction, Middle Cerebral Artery|Embolus, Middle Cerebral Artery|Infarct, MCA|Infarcts, MCA|Left Middle Cerebral Artery Infarction|MCA Infarct|MCA Infarction|MCA Infarcts|Middle Cerebral Artery Circulation Infarction|Middle Cerebral Artery Embolic Infarction|Middle Cerebral Artery Embolus|Middle Cerebral Artery Infarction|Middle Cerebral Artery Occlusion|Middle Cerebral Artery Stroke|Middle Cerebral Artery Syndrome|Middle Cerebral Artery Thrombosis|Middle Cerebral Artery Thrombotic Infarction|Occlusion, Middle Cerebral Artery|Right Middle Cerebral Artery Infarction|Stroke, Middle Cerebral Artery|Thrombosis, Middle Cerebral Artery|Thrombotic Infarction, Middle Cerebral Artery Cardiovascular disease|Nervous system disease|Pathology (process) Infarction, Posterior Cerebral Artery MESH:D020762 DO:DOID:3821 NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA). MESH:D002539|MESH:D002544 C10.228.140.300.150.477.200.475|C10.228.140.300.510.200.418|C10.228.140.300.775.200.200.475|C14.907.253.092.477.200.475|C14.907.253.560.200.418|C14.907.253.855.200.200.475|C23.550.513.355.250.200.475|C23.550.717.489.250.200.475 C10.228.140.300.150.477.200|C10.228.140.300.510.200|C10.228.140.300.775.200.200|C14.907.253.092.477.200|C14.907.253.560.200|C14.907.253.855.200.200|C23.550.513.355.250.200|C23.550.717.489.250.200 Embolic Infarction, Posterior Cerebral Artery|Infarction, PCA|Infarct, PCA|Infarcts, PCA|PCA Infarct|PCA Infarction|PCA Infarcts|Posterior Cerebral Artery Embolic Infarction|Posterior Cerebral Artery Infarction|Posterior Cerebral Artery Stroke|Posterior Cerebral Artery Syndrome|Posterior Cerebral Artery Thrombotic Infarction|Stroke, Posterior Cerebral Artery|Thrombotic Infarction, Posterior Cerebral Artery Cardiovascular disease|Nervous system disease|Pathology (process) Infections MESH:D007239 Invasion of the host organism by microorganisms or their toxins or by parasites that can cause pathological conditions or diseases. MESH:C C01 C Infection|Infection and Infestation|Infections and Infestations|Infestation and Infection|Infestations and Infections Infection with Mycobacterium marinum MESH:C535526 MESH:D009165 C01.150.252.410.040.552.475/C535526 C01.150.252.410.040.552.475 Fish tank granuloma|Mycobacterium marinum Infection Bacterial infection or mycosis Infectious Bovine Rhinotracheitis MESH:D007241 A herpesvirus infection of CATTLE characterized by INFLAMMATION and NECROSIS of the mucous membranes of the upper RESPIRATORY TRACT. MESH:D002418|MESH:D006566 C01.925.256.466.488|C22.196.429 C01.925.256.466|C22.196 Bovine Rhinotracheitides, Infectious|Bovine Rhinotracheitis, Infectious|Infectious Bovine Rhinotracheitides|Rhinotracheitides, Infectious Bovine|Rhinotracheitis, Infectious Bovine Animal disease|Viral disease Infectious Encephalitis MESH:D000069544 Brain inflammation caused by an infectious agent. MESH:D002494|MESH:D004660 C01.207.399|C10.228.140.430.520|C10.228.228.399|C10.586.250.520 C01.207|C10.228.140.430|C10.228.228|C10.586.250 Encephalitis Infection|Encephalitis Infections|Encephalitis, Infectious|Infection, Encephalitis|Infections, Encephalitis Nervous system disease Infectious Mononucleosis MESH:D007244 DO:DOID:8568 A common, acute infection usually caused by the Epstein-Barr virus (HERPESVIRUS 4, HUMAN). There is an increase in mononuclear white blood cells and other atypical lymphocytes, generalized lymphadenopathy, splenomegaly, and occasionally hepatomegaly with hepatitis. MESH:D007960|MESH:D008232|MESH:D020031 C01.925.256.466.313.400|C15.378.553.381|C15.604.515.516|C20.683.515.515 C01.925.256.466.313|C15.378.553|C15.604.515|C20.683.515 Fever, Glandular|Glandular Fever|Mononucleosis, Infectious Blood disease|Immune system disease|Lymphatic disease|Viral disease Inferior Wall Myocardial Infarction MESH:D056989 DO:DOID:5850 MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery. MESH:D009203 C14.280.647.500.187|C14.907.585.500.187|C23.550.513.355.750.187|C23.550.717.489.750.187 C14.280.647.500|C14.907.585.500|C23.550.513.355.750|C23.550.717.489.750 Acute Inferior Myocardial Infarction|Diaphragmatic Myocardial Infarction|Diaphragmatic Myocardial Infarctions|Infarction, Diaphragmatic Myocardial|Infarction, Inferior Myocardial|Infarctions, Diaphragmatic Myocardial|Infarctions, Inferior Myocardial|Inferior Myocardial Infarction|Inferior Myocardial Infarctions|Myocardial Infarction, Diaphragmatic|Myocardial Infarction, Inferior|Myocardial Infarction, Inferior Wall|Myocardial Infarctions, Diaphragmatic|Myocardial Infarctions, Inferior Cardiovascular disease|Pathology (process) Infertility MESH:D007246 DO:DOID:5223 A reduced or absent capacity to reproduce. MESH:D000091662 C12.100.750 C12.100 Reproductive Sterility|Sterility|Sterility, Reproductive|Subfertility|Sub-Fertility Infertility, Female MESH:D007247 Diminished or absent ability of a female to achieve conception. MESH:D005831|MESH:D007246 C12.050.351.500.498|C12.100.250.498|C12.100.750.350 C12.050.351.500|C12.100.250|C12.100.750 Female Infertility|Female Sterility|Female Subfertility|Female Sub-Fertility|Postpartum Sterility|Sterility, Female|Sterility, Postpartum|Subfertility, Female|Sub Fertility, Female|Sub-Fertility, Female Urogenital disease (female) Infertility, Male MESH:D007248 DO:DOID:12336 The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility. MESH:D005832|MESH:D007246 C12.100.500.430|C12.100.750.700|C12.200.294.430 C12.100.500|C12.100.750|C12.200.294 Male Infertility|Male Sterility|Male Subfertility|Male Sub-Fertility|Sterility, Male|Subfertility, Male|Sub Fertility, Male|Sub-Fertility, Male Urogenital disease (male) Inflammation MESH:D007249 A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function. MESH:D010335 C23.550.470 C23.550 Inflammations|Inflammatory Response, Innate|Innate Inflammatory Response|Innate Inflammatory Responses Pathology (process) Inflammation of the whole uveal tract MESH:C531766 MESH:D015864 C11.941.879.780/C531766 C11.941.879.780 Eye disease Inflammatory Bowel Disease 10 MESH:C567021 DO:DOID:0110885|OMIM:611081 MESH:D015212 C06.405.205.731/C567021|C06.405.469.432/C567021 C06.405.205.731|C06.405.469.432 IBD10|INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 10 Digestive system disease Inflammatory Bowel Disease 11 MESH:C567154 DO:DOID:0110894 MESH:D015212 C06.405.205.731/C567154|C06.405.469.432/C567154 C06.405.205.731|C06.405.469.432 Digestive system disease Inflammatory Bowel Disease 12 MESH:C567388 DO:DOID:0110887|OMIM:612241 MESH:D015212 C06.405.205.731/C567388|C06.405.469.432/C567388 C06.405.205.731|C06.405.469.432 IBD12 Digestive system disease Inflammatory Bowel Disease 13 MESH:C567384 DO:DOID:0110893|OMIM:612244 MESH:D015212 C06.405.205.731/C567384|C06.405.469.432/C567384 C06.405.205.731|C06.405.469.432 IBD13 Digestive system disease Inflammatory Bowel Disease 14 MESH:C567383 DO:DOID:0110895|OMIM:612245 MESH:D015212 C06.405.205.731/C567383|C06.405.469.432/C567383 C06.405.205.731|C06.405.469.432 Ibd14 Digestive system disease Inflammatory Bowel Disease 15 MESH:C567381 DO:DOID:0110897|OMIM:612255 MESH:D015212 C06.405.205.731/C567381|C06.405.469.432/C567381 C06.405.205.731|C06.405.469.432 IBD15 Digestive system disease Inflammatory Bowel Disease 16 MESH:C567380 DO:DOID:0110896|OMIM:612259 MESH:D015212 C06.405.205.731/C567380|C06.405.469.432/C567380 C06.405.205.731|C06.405.469.432 IBD16 Digestive system disease Inflammatory Bowel Disease 17 MESH:C567378 DO:DOID:0110883|OMIM:612261 MESH:D015212 C06.405.205.731/C567378|C06.405.469.432/C567378 C06.405.205.731|C06.405.469.432 IBD17 Digestive system disease Inflammatory Bowel Disease 18 MESH:C567377 DO:DOID:0110888|OMIM:612262 MESH:D015212 C06.405.205.731/C567377|C06.405.469.432/C567377 C06.405.205.731|C06.405.469.432 IBD18 Digestive system disease Inflammatory Bowel Disease 19 MESH:C567372 DO:DOID:0110890|OMIM:612278 MESH:D015212 C06.405.205.731/C567372|C06.405.469.432/C567372 C06.405.205.731|C06.405.469.432 IBD19|INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 19 Digestive system disease Inflammatory Bowel Disease 2 MESH:C563310 DO:DOID:0110900|OMIM:601458 MESH:D015212 C06.405.205.731/C563310|C06.405.469.432/C563310 C06.405.205.731|C06.405.469.432 IBD2 Digestive system disease Inflammatory Bowel Disease 20 MESH:C567361 DO:DOID:0110898|OMIM:612288 MESH:D015212 C06.405.205.731/C567361|C06.405.469.432/C567361 C06.405.205.731|C06.405.469.432 IBD20 Digestive system disease Inflammatory Bowel Disease 21 MESH:C567338 DO:DOID:0110906|OMIM:612354 MESH:D015212 C06.405.205.731/C567338|C06.405.469.432/C567338 C06.405.205.731|C06.405.469.432 IBD21 Digestive system disease Inflammatory Bowel Disease 22 MESH:C567327 DO:DOID:0110905|OMIM:612380 MESH:D015212 C06.405.205.731/C567327|C06.405.469.432/C567327 C06.405.205.731|C06.405.469.432 IBD22 Digestive system disease Inflammatory Bowel Disease 23 MESH:C567326 DO:DOID:0110884|OMIM:612381 MESH:D015212 C06.405.205.731/C567326|C06.405.469.432/C567326 C06.405.205.731|C06.405.469.432 IBD23 Digestive system disease Inflammatory Bowel Disease 24 MESH:C567252 DO:DOID:0110908|OMIM:612566 MESH:D015212 C06.405.205.731/C567252|C06.405.469.432/C567252 C06.405.205.731|C06.405.469.432 IBD24 Digestive system disease Inflammatory Bowel Disease 25, Autosomal Recessive MESH:C567251 OMIM:612567 MESH:D015212 C06.405.205.731/C567251|C06.405.469.432/C567251 C06.405.205.731|C06.405.469.432 IBD25|INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE Digestive system disease Inflammatory Bowel Disease 26 MESH:C567217 DO:DOID:0110901|OMIM:612639 MESH:D015212 C06.405.205.731/C567217|C06.405.469.432/C567217 C06.405.205.731|C06.405.469.432 IBD26 Digestive system disease Inflammatory Bowel Disease 27 MESH:C567559 DO:DOID:0110902|OMIM:612796 MESH:D015212 C06.405.205.731/C567559|C06.405.469.432/C567559 C06.405.205.731|C06.405.469.432 IBD27 Digestive system disease Inflammatory Bowel Disease 28, Autosomal Recessive MESH:C567728 OMIM:613148 MESH:D015212 C06.405.205.731/C567728|C06.405.469.432/C567728 C06.405.205.731|C06.405.469.432 Ibd28|INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE Digestive system disease Inflammatory Bowel Disease 3 MESH:C565764 DO:DOID:0110891|OMIM:604519 MESH:D015212 C06.405.205.731/C565764|C06.405.469.432/C565764 C06.405.205.731|C06.405.469.432 IBD3 Digestive system disease Inflammatory Bowel Disease 4 MESH:C564680 DO:DOID:0110903|OMIM:606675 MESH:D015212 C06.405.205.731/C564680|C06.405.469.432/C564680 C06.405.205.731|C06.405.469.432 IBD4 Digestive system disease Inflammatory Bowel Disease 5 MESH:C565234 DO:DOID:0110889|OMIM:606348 MESH:D015212 C06.405.205.731/C565234|C06.405.469.432/C565234 C06.405.205.731|C06.405.469.432 IBD5 Digestive system disease Inflammatory Bowel Disease 6 MESH:C564681 DO:DOID:0110907|OMIM:606674 MESH:D015212 C06.405.205.731/C564681|C06.405.469.432/C564681 C06.405.205.731|C06.405.469.432 IBD6 Digestive system disease Inflammatory Bowel Disease 7 MESH:C565353 DO:DOID:0110882|OMIM:605225 MESH:D015212 C06.405.205.731/C565353|C06.405.469.432/C565353 C06.405.205.731|C06.405.469.432 IBD7 Digestive system disease Inflammatory Bowel Disease 8 MESH:C564682 DO:DOID:0110904|OMIM:606668 MESH:D015212 C06.405.205.731/C564682|C06.405.469.432/C564682 C06.405.205.731|C06.405.469.432 IBD8 Digestive system disease Inflammatory Bowel Disease 9 MESH:C563926 DO:DOID:0110886|OMIM:608448 MESH:D015212 C06.405.205.731/C563926|C06.405.469.432/C563926 C06.405.205.731|C06.405.469.432 IBD9 Digestive system disease Inflammatory Bowel Diseases MESH:D015212 DO:DOID:0050589|OMIM:266600 Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS. MESH:D005759|MESH:D007410 C06.405.205.731|C06.405.469.432 C06.405.205|C06.405.469 Bowel Diseases, Inflammatory|CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED|CROHN DISEASE, INCLUDED|IBD1|Inflammatory Bowel Disease|INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1|REGIONAL ENTERITIS, INCLUDED|ULCERATIVE COLITIS, INCLUDED Digestive system disease Inflammatory Breast Neoplasms MESH:D058922 DO:DOID:6263 Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells. MESH:D001943 C04.588.180.576|C17.800.090.500.576 C04.588.180|C17.800.090.500 Breast Cancer, Inflammatory|Breast Cancers, Inflammatory|Breast Carcinoma, Inflammatory|Breast Carcinomas, Inflammatory|Breast Neoplasm, Inflammatory|Breast Neoplasms, Inflammatory|Cancer, Inflammatory Breast|Cancers, Inflammatory Breast|Carcinoma, Inflammatory Breast|Carcinomas, Inflammatory Breast|Inflammatory Breast Cancer|Inflammatory Breast Cancer (IBC)|Inflammatory Breast Cancers|Inflammatory Breast Carcinoma|Inflammatory Breast Carcinomas|Inflammatory Breast Neoplasm|Neoplasm, Inflammatory Breast|Neoplasms, Inflammatory Breast Cancer|Skin disease INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 OMIM:614328 MESH:D007232|MESH:D009205|MESH:D012871|MESH:D015212 C06.405.205.731/614328|C06.405.469.432/614328|C14.280.238.625/614328|C16.614/614328|C17.800/614328 C06.405.205.731|C06.405.469.432|C14.280.238.625|C16.614|C17.800 NISBD1 Cardiovascular disease|Digestive system disease|Infant-newborn disease|Skin disease INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 OMIM:616069 MESH:D007232|MESH:D009205|MESH:D012871|MESH:D015212 C06.405.205.731/616069|C06.405.469.432/616069|C14.280.238.625/616069|C16.614/616069|C17.800/616069 C06.405.205.731|C06.405.469.432|C14.280.238.625|C16.614|C17.800 NISBD2 Cardiovascular disease|Digestive system disease|Infant-newborn disease|Skin disease Influenza, Human MESH:D007251 DO:DOID:8469|OMIM:614680 An acute viral infection in humans involving the respiratory tract. It is marked by inflammation of the NASAL MUCOSA; the PHARYNX; and conjunctiva, and by headache and severe, often generalized, myalgia. MESH:D009976|MESH:D012141 C01.748.310|C01.925.782.620.365|C08.730.310 C01.748|C01.925.782.620|C08.730 Flu, Human|Grippe|Human Flu|Human Influenza|Human Influenzas|Influenza|Influenza in Human|Influenza in Humans|Influenzas|INFLUENZA, SEVERE, SUSCEPTIBILITY TO|Influenzas, Human Respiratory tract disease|Viral disease Influenza in Birds MESH:D005585 DO:DOID:4492 Infection of domestic and wild fowl and other BIRDS with INFLUENZA A VIRUS. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic POULTRY. MESH:D001715|MESH:D009976 C01.925.782.620.300|C22.131.450 C01.925.782.620|C22.131 Avian Flu|Avian Influenza|Avian Influenzas|Flu, Avian|Fowl Plague|Influenza, Avian|Influenza in Bird|Influenzas, Avian|Plague, Fowl Animal disease|Viral disease Infratentorial Neoplasms MESH:D015192 DO:DOID:4706 Intracranial tumors originating in the region of the brain inferior to the TENTORIUM CEREBELLI, which contains the cerebellum, FOURTH VENTRICLE; CEREBELLOPONTINE ANGLE; BRAIN STEM, and related structures. Primary tumors of this region are more frequent in children, and may present with ATAXIA; CRANIAL NERVE DISEASES; vomiting; HEADACHE; HYDROCEPHALUS; or other signs of neurologic dysfunction. Relatively frequent histologic subtypes include TERATOMA; MEDULLOBLASTOMA; GLIOBLASTOMA; ASTROCYTOMA; EPENDYMOMA; CRANIOPHARYNGIOMA; and choroid plexus papilloma (PAPILLOMA, CHOROID PLEXUS). MESH:D001932 C04.588.614.250.195.411|C10.228.140.211.500|C10.551.240.250.400 C04.588.614.250.195|C10.228.140.211|C10.551.240.250 Benign Infratentorial Neoplasm|Benign Infratentorial Neoplasms|Cancer, Infratentorial|Infratentorial Cancer|Infratentorial Cancers|Infratentorial Neoplasm|Infratentorial Neoplasm, Benign|Infratentorial Neoplasm, Malignant|Infratentorial Neoplasms, Benign|Infratentorial Neoplasms, Malignant|Infratentorial Tumor|Infratentorial Tumors|Malignant Infratentorial Neoplasm|Malignant Infratentorial Neoplasms|Neoplasm, Benign Infratentorial|Neoplasm, Infratentorial|Neoplasm, Malignant Infratentorial|Neoplasm, Posterior Fossa|Neoplasms, Infratentorial|Neoplasms, Malignant Infratentorial|Neoplasms, Posterior Fossa|Posterior Fossa Neoplasm|Posterior Fossa Neoplasms|Posterior Fossa Tumor|Posterior Fossa Tumors|Tumor, Infratentorial|Tumor, Posterior Fossa Cancer|Nervous system disease Infundibulopelvic dysgenesis MESH:C535528 MESH:D003251|MESH:D007674 C12.050.351.968.419/C535528|C12.200.777.419/C535528|C12.950.419/C535528|C23.300.287/C535528 C12.050.351.968.419|C12.200.777.419|C12.950.419|C23.300.287 Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Inhalant Abuse MESH:D058545 Illicit use of chemicals and products whose vapors can be inhaled to produce a rapid mind-altering effect. Inhalants include aerosols, gases, and volatile solvents that are often inhaled repeatedly to achieve the short-lived intoxicating effect. MESH:D019966 C25.775.467|F03.900.467 C25.775|F03.900 Abuse, Glue|Abuse, Inhalant|Abuses, Glue|Abuses, Inhalant|Glue Abuse|Glue Abuses|Glue Sniffing|Glue Sniffings|Inhalant Abuses Mental disorder|Substance-related disorder Inhalation anthrax MESH:C571912 DO:DOID:0050160 MESH:D000881|MESH:D012141 C01.150.252.410.090.072/C571912|C01.748/C571912|C08.730/C571912 C01.150.252.410.090.072|C01.748|C08.730 Bacterial infection or mycosis|Respiratory tract disease Inherited Peripheral Neuropathy MESH:C548028 MESH:D010523 C10.668.829/C548028 C10.668.829 Nervous system disease Inherited Thyroxine-Binding Globulin Deficiency MESH:C580199 MESH:D013959 C19.874/C580199 C19.874 Tbg Deficiency Endocrine system disease Injection Site Reaction MESH:D000075662 Adverse reactions that occur initially at the site of injection or infusion. Milder type is confined to a local allergic flare reaction. A more severe reaction is caused by extravasation of VESICANTS from the blood vessel at the site of injection and can cause damage to the surrounding tissue. In tumor flare reaction symptoms involve well beyond the injection site such as an increase in the tumor size and tumor markers levels, bone pain, and HYPERCALCEMIA. MESH:D005119|MESH:D064420 C23.550.340.500|C25.100.781 C23.550.340|C25.100 Infusion Site Adverse Event|Infusion Site Adverse Reaction|Infusion Site Reaction|Infusion Site Reactions|Injection Site Adverse Event|Injection Site Event|Injection Site Events|Injection Site Reactions Pathology (process) Inosine Phosphorylase Deficiency, Immune Defect Due To MESH:C565465 MESH:D007153 C20.673/C565465 C20.673 Immune system disease Inosine Triphosphatase Deficiency MESH:C564127 OMIM:613850 MESH:D008661 C16.320.565/C564127|C18.452.648/C564127 C16.320.565|C18.452.648 INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY Genetic disease (inborn)|Metabolic disease Insect Bites and Stings MESH:D007299 Bites and stings inflicted by insects. MESH:D001733 C25.723.127.071|C26.176.143 C25.723.127|C26.176 Bite, Insect|Bites, Insect|Insect Bite|Insect Bites|Insect Sting|Insect Stings|Sting, Insect|Stings, Insect Wounds and injuries Insomnia, Fatal Familial MESH:D034062 DO:DOID:0050433|OMIM:600072 An autosomal dominant disorder characterized by degeneration of the THALAMUS and progressive insomnia. It is caused by a mutation in the prion protein (PRIONS). MESH:D007319|MESH:D017096 C01.207.800.392|C10.228.228.800.392|C10.574.843.512|C10.886.425.800.800.400 C01.207.800|C10.228.228.800|C10.574.843|C10.886.425.800.800 Familial Fatal Insomnia|Familial Fatal, Insomnia|Familial Fatal Insomnias|Familial Fatals, Insomnia|Fatal Familial Insomnia|Fatal Familial Insomnias|Fatal Insomnia, Familial|Fatal, Insomnia Familial|Fatal Insomnias, Familial|Fatals, Insomnia Familial|FFI|Insomnia Familial Fatal|Insomnia, Familial Fatal|Insomnia Familial Fatals|INSOMNIA, FATAL FAMILIAL|Insomnias, Familial Fatal|Insomnias, Fatal Familial Nervous system disease Insulin Coma MESH:D007331 Severe HYPOGLYCEMIA induced by a large dose of exogenous INSULIN resulting in a COMA or profound state of unconsciousness from which the individual cannot be aroused. MESH:D003128|MESH:D007003 C10.597.606.358.800.200.600|C18.452.394.984.492 C10.597.606.358.800.200|C18.452.394.984 Coma, Insulin|Insulin Shock|Shock, Insulin Metabolic disease|Nervous system disease Insulin-Like Growth Factor I Deficiency MESH:C563867 OMIM:608747 MESH:D006130|MESH:D006319 C09.218.458.341.887/C563867|C10.597.751.418.341.887/C563867|C23.550.393/C563867|C23.888.592.763.393.341.887/C563867 C09.218.458.341.887|C10.597.751.418.341.887|C23.550.393|C23.888.592.763.393.341.887 Growth Retardation with Sensorineural Deafness and Mental Retardation|IGF1 Deficiency Ear-nose-throat disease|Nervous system disease|Pathology (process)|Signs and symptoms Insulin-Like Growth Factor I, Resistance To MESH:C564816 OMIM:270450 MESH:D000015|MESH:D006130 C16.131.077/C564816|C23.550.393/C564816 C16.131.077|C23.550.393 IGF1RES|IGF-I Resistance|IGF-I RESISTANCE INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN, INCLUDED|Somatomedin C, Resistance To|SOMATOMEDIN-C, RESISTANCE TO|Somatomedin, End-Organ Insensitivity To Congenital abnormality|Pathology (process) Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein MESH:C564817 MESH:D006130 C23.550.393/C564817 C23.550.393 Pathology (process) Insulinoma MESH:D007340 DO:DOID:3892|OMIM:606960 A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA. MESH:D007516 C04.557.470.035.100.852|C04.588.274.761.249.500|C04.588.322.475.249.500|C06.301.761.249.500|C06.689.667.249.500|C19.344.421.249.500 C04.557.470.035.100|C04.588.274.761.249|C04.588.322.475.249|C06.301.761.249|C06.689.667.249|C19.344.421.249 Adenoma, beta Cell|Adenoma, beta-Cell|Adenomas, beta-Cell|beta-Cell Adenoma|beta-Cell Adenomas|beta Cell Tumor|beta-Cell Tumor|beta-Cell Tumors|Insulinomas|INSULINOMA TUMOR SUPPRESSOR GENE LOCUS|Insuloma|Insulomas|Tumor, beta-Cell|Tumors, beta-Cell Cancer|Digestive system disease|Endocrine system disease Insulin Receptor, Defect in MESH:C562709 MESH:D056731 C05.660.207.325/C562709|C16.131.077.313/C562709|C16.320.215/C562709|C18.452.394.750.654/C562709|C19.246.537/C562709 C05.660.207.325|C16.131.077.313|C16.320.215|C18.452.394.750.654|C19.246.537 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Insulin Resistance MESH:D007333 Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS. MESH:D006946 C18.452.394.968.500 C18.452.394.968 Insulin Sensitivity|Resistance, Insulin|Sensitivity, Insulin Metabolic disease INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 10 OMIM:614256 DO:DOID:0070040 MESH:D008607 C10.597.606.360/614256|C23.888.592.604.646/614256|F03.625.539/614256 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 10|MRD10 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 2 OMIM:614113 DO:DOID:0070032 MESH:D008607 C10.597.606.360/614113|C23.888.592.604.646/614113|F03.625.539/614113 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 2|MRD2 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21 OMIM:615502 DO:DOID:0070051 MESH:D008607 C10.597.606.360/615502|C23.888.592.604.646/615502|F03.625.539/615502 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21|MRD21 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 22 OMIM:612337 DO:DOID:0070052 MESH:D008607 C10.597.606.360/612337|C23.888.592.604.646/612337|F03.625.539/612337 C10.597.606.360|C23.888.592.604.646|F03.625.539 CHROMOSOME 1qter DELETION SYNDROME, INCLUDED|MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 CHROMOSOME 1q43-q44 DELETION SYNDROME, INCLUDED|MRD22 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 OMIM:615761 DO:DOID:0070053 MESH:D008607 C10.597.606.360/615761|C23.888.592.604.646/615761|F03.625.539/615761 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 23|MRD23 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26 OMIM:615834 DO:DOID:0070056 MESH:D008607 C10.597.606.360/615834|C23.888.592.604.646/615834|F03.625.539/615834 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 26|MRD26 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29 OMIM:616078 DO:DOID:0070059 MESH:D008607 C10.597.606.360/616078|C23.888.592.604.646/616078|F03.625.539/616078 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 29|MRD29 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES OMIM:616083 DO:DOID:0070060 MESH:D008607|MESH:D013064 C10.597.606.150.500.800/616083|C10.597.606.360/616083|C23.888.592.604.150.500.800/616083|C23.888.592.604.646/616083|F03.625.539/616083 C10.597.606.150.500.800|C10.597.606.360|C23.888.592.604.150.500.800|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 30|MRD30 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 33 OMIM:616311 DO:DOID:0070063 MESH:D008607 C10.597.606.360/616311|C23.888.592.604.646/616311|F03.625.539/616311 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 33|MRD33 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 34 OMIM:616351 DO:DOID:0070064 MESH:D008607 C10.597.606.360/616351|C23.888.592.604.646/616351|F03.625.539/616351 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 34|MRD34 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36 OMIM:616362 DO:DOID:0070066 MESH:D008607 C10.597.606.360/616362|C23.888.592.604.646/616362|F03.625.539/616362 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 36|MRD36 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 OMIM:616393 DO:DOID:0070068 MESH:D008607 C10.597.606.360/616393|C23.888.592.604.646/616393|F03.625.539/616393 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 38|MRD38|PRELDS|PSYCHOMOTOR RETARDATION, EPILEPSY, AND LANGUAGE DISABILITY SYNDROME Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39 OMIM:616521 DO:DOID:0070069 MESH:D008607 C10.597.606.360/616521|C23.888.592.604.646/616521|F03.625.539/616521 C10.597.606.360|C23.888.592.604.646|F03.625.539 CHROMOSOME 2p25.3 DUPLICATION SYNDROME, INCLUDED|MENTAL RETARDATION, AUTOSOMAL DOMINANT 39|MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, AND OBESITY CHROMOSOME 2p25.3 DELETION SYNDROME, INCLUDED|MRD39 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41 OMIM:616944 DO:DOID:0070071 MESH:D008607 C10.597.606.360/616944|C23.888.592.604.646/616944|F03.625.539/616944 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 41|MRD41 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42 OMIM:616973 DO:DOID:0070072 MESH:D008607 C10.597.606.360/616973|C23.888.592.604.646/616973|F03.625.539/616973 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 42|MRD42 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43 OMIM:616977 DO:DOID:0070073 MESH:D008607 C10.597.606.360/616977|C23.888.592.604.646/616977|F03.625.539/616977 C10.597.606.360|C23.888.592.604.646|F03.625.539 MRD43 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY OMIM:617061 DO:DOID:0070074 MESH:D008607|MESH:D008831 C05.660.207.620/617061|C10.500.507.400.500/617061|C10.597.606.360/617061|C16.131.621.207.620/617061|C16.131.666.507.400.500/617061|C23.888.592.604.646/617061|F03.625.539/617061 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44|MRD44 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES OMIM:613970 DO:DOID:0070036 MESH:D008607|MESH:D012640 C10.597.606.360/613970|C10.597.742/613970|C23.888.592.604.646/613970|C23.888.592.742/613970|F03.625.539/613970 C10.597.606.360|C10.597.742|C23.888.592.604.646|C23.888.592.742|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES|MRD6 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7 OMIM:614104 DO:DOID:0070037 MESH:D008607 C10.597.606.360/614104|C23.888.592.604.646/614104|F03.625.539/614104 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7|MRD7 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 14 OMIM:614020 DO:DOID:0081188 MESH:D008607 C10.597.606.360/614020|C23.888.592.604.646/614020|F03.625.539/614020 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14|MRT14 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 16 OMIM:614208 DO:DOID:0081189 MESH:D008607 C10.597.606.360/614208|C23.888.592.604.646/614208|F03.625.539/614208 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16|MRT16 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY OMIM:614249 DO:DOID:0081190 MESH:D008607 C10.597.606.360/614249|C23.888.592.604.646/614249|F03.625.539/614249 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18|MRT18 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27 OMIM:614340 DO:DOID:0081193 MESH:D008607 C10.597.606.360/614340|C23.888.592.604.646/614340|F03.625.539/614340 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27|MRT27 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM:614499 DO:DOID:0081200 MESH:D008607|MESH:D054082 C10.500.507.450.499/614499|C10.597.606.360/614499|C16.131.666.507.450.499/614499|C23.888.592.604.646/614499|F03.625.539/614499 C10.500.507.450.499|C10.597.606.360|C16.131.666.507.450.499|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY|MRT34 Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 37 OMIM:615493 DO:DOID:0081202 MESH:D008607 C10.597.606.360/615493|C23.888.592.604.646/615493|F03.625.539/615493 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37|MRT37 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38 OMIM:615516 DO:DOID:0081203 MESH:D008607 C10.597.606.360/615516|C23.888.592.604.646/615516|F03.625.539/615516 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38|MRT38 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39 OMIM:615541 DO:DOID:0081204 MESH:D008607 C10.597.606.360/615541|C23.888.592.604.646/615541|F03.625.539/615541 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39|MRT39 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41 OMIM:615637 DO:DOID:0081206 MESH:D008607 C10.597.606.360/615637|C23.888.592.604.646/615637|F03.625.539/615637 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41|MRT41 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 43 OMIM:615817 DO:DOID:0081207 MESH:D008607 C10.597.606.360/615817|C23.888.592.604.646/615817|F03.625.539/615817 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43|MRT43 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 44 OMIM:615942 DO:DOID:0081208 MESH:D008607 C10.597.606.360/615942|C23.888.592.604.646/615942|F03.625.539/615942 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44|MRT44 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 45 OMIM:615979 DO:DOID:0081209 MESH:D008607 C10.597.606.360/615979|C23.888.592.604.646/615979|F03.625.539/615979 C10.597.606.360|C23.888.592.604.646|F03.625.539 MRT45 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46 OMIM:616116 DO:DOID:0081210 MESH:D008607 C10.597.606.360/616116|C23.888.592.604.646/616116|F03.625.539/616116 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46|MRT46 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 47 OMIM:616193 DO:DOID:0081211 MESH:D008607 C10.597.606.360/616193|C23.888.592.604.646/616193|F03.625.539/616193 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47|MRT47 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48 OMIM:616269 DO:DOID:0081212 MESH:D008607 C10.597.606.360/616269|C23.888.592.604.646/616269|F03.625.539/616269 C10.597.606.360|C23.888.592.604.646|F03.625.539 MRT48 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 50 OMIM:616460 DO:DOID:0081213 MESH:D008607 C10.597.606.360/616460|C23.888.592.604.646/616460|F03.625.539/616460 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50|MRT50 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51 OMIM:616739 DO:DOID:0081214 MESH:D008607 C10.597.606.360/616739|C23.888.592.604.646/616739|F03.625.539/616739 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51|MRT51 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 52 OMIM:616887 DO:DOID:0081215 MESH:D008607 C10.597.606.360/616887|C23.888.592.604.646/616887|F03.625.539/616887 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52|MRT52 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 54 OMIM:617028 DO:DOID:0081216 MESH:D008607 C10.597.606.360/617028|C23.888.592.604.646/617028|F03.625.539/617028 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54|MRT54 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56 OMIM:617125 DO:DOID:0081217 MESH:D008607 C10.597.606.360/617125|C23.888.592.604.646/617125|F03.625.539/617125 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56|MRT56 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57 OMIM:617188 DO:DOID:0081219 MESH:D008607 C10.597.606.360/617188|C23.888.592.604.646/617188|F03.625.539/617188 C10.597.606.360|C23.888.592.604.646|F03.625.539 MRT57 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58 OMIM:617270 DO:DOID:0081220 MESH:D008607 C10.597.606.360/617270|C23.888.592.604.646/617270|F03.625.539/617270 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58|MRT58 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 59 OMIM:617323 DO:DOID:0081221 MESH:D008607 C10.597.606.360/617323|C23.888.592.604.646/617323|F03.625.539/617323 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59|MRT59 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60 OMIM:617432 DO:DOID:0081222 MESH:D008607 C10.597.606.360/617432|C23.888.592.604.646/617432|F03.625.539/617432 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60|MRT60 Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS OMIM:617333 MESH:D008607|MESH:D011596|MESH:D016569|MESH:D019465 C05.660.207/617333|C10.597.606.360/617333|C10.597.606.881/617333|C11.250.090/617333|C11.338.190/617333|C16.131.384.190/617333|C16.131.621.207/617333|C23.888.592.604.646/617333|C23.888.592.604.882/617333|F03.625.539/617333 C05.660.207|C10.597.606.360|C10.597.606.881|C11.250.090|C11.338.190|C16.131.384.190|C16.131.621.207|C23.888.592.604.646|C23.888.592.604.882|F03.625.539 IDDDFP Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES OMIM:617452 MESH:D008607|MESH:D011596|MESH:D017880|MESH:D019465 C05.660.207/617452|C05.660.585/617452|C10.597.606.360/617452|C10.597.606.881/617452|C16.131.621.207/617452|C16.131.621.585/617452|C23.888.592.604.646/617452|C23.888.592.604.882/617452|F03.625.539/617452 C05.660.207|C05.660.585|C10.597.606.360|C10.597.606.881|C16.131.621.207|C16.131.621.585|C23.888.592.604.646|C23.888.592.604.882|F03.625.539 IDDFSDA Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES OMIM:613670 DO:DOID:0111331 MESH:D001321|MESH:D007805|MESH:D008607 C10.597.606.150.500.550/613670|C10.597.606.360/613670|C23.888.592.604.150.500.550/613670|C23.888.592.604.646/613670|F03.625.164.113.500/613670|F03.625.539/613670 C10.597.606.150.500.550|C10.597.606.360|C23.888.592.604.150.500.550|C23.888.592.604.646|F03.625.164.113.500|F03.625.539 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN OMIM:617101 MESH:D008607|MESH:D011596 C10.597.606.360/617101|C10.597.606.881/617101|C23.888.592.604.646/617101|C23.888.592.604.882/617101|F03.625.539/617101 C10.597.606.360|C10.597.606.881|C23.888.592.604.646|C23.888.592.604.882|F03.625.539 DIAS-LOGAN SYNDROME|INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN Mental disorder|Nervous system disease|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 100 OMIM:300923 DO:DOID:0112040 MESH:D038901 C10.597.606.360.455/300923|C16.320.322.500/300923|C16.320.400.525/300923 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 100|MRX100|XLID100 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 101 OMIM:300928 DO:DOID:0112048 MESH:D038901 C10.597.606.360.455/300928|C16.320.322.500/300928|C16.320.400.525/300928 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 101|MRX101|XLID101 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 OMIM:300982 DO:DOID:0112020 MESH:D038901 C10.597.606.360.455/300982|C16.320.322.500/300982|C16.320.400.525/300982 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 103|MRX103|XLID103 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 OMIM:300983 DO:DOID:0112018 MESH:D038901 C10.597.606.360.455/300983|C16.320.322.500/300983|C16.320.400.525/300983 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 104|MRX104|XLID104 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 OMIM:300984 DO:DOID:0112036 MESH:D038901 C10.597.606.360.455/300984|C16.320.322.500/300984|C16.320.400.525/300984 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 105|MRX105|XLID105 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12 OMIM:300957 DO:DOID:0112056 MESH:D038901 C10.597.606.360.455/300957|C16.320.322.500/300957|C16.320.400.525/300957 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 12|MENTAL RETARDATION, X-LINKED 35|MRX12|MRX35|XLID12 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 OMIM:300143 DO:DOID:0112022 MESH:D038901 C10.597.606.360.455/300143|C16.320.322.500/300143|C16.320.400.525/300143 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 21|MENTAL RETARDATION, X-LINKED 34|MRX21|MRX34|XLID21 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 OMIM:300849 DO:DOID:0112058 MESH:D038901 C10.597.606.360.455/300849|C16.320.322.500/300849|C16.320.400.525/300849 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 41|MENTAL RETARDATION, X-LINKED 48|MRX41|MRX48|XLID41 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90 OMIM:300850 DO:DOID:0112041 MESH:D038901 C10.597.606.360.455/300850|C16.320.322.500/300850|C16.320.400.525/300850 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 90|MRX90|XLID90 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 OMIM:300802 DO:DOID:0112035 MESH:D038901 C10.597.606.360.455/300802|C16.320.322.500/300802|C16.320.400.525/300802 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 96|MRX96|XLID96 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 OMIM:300912 DO:DOID:0112044 MESH:D038901 C10.597.606.360.455/300912|C16.320.322.500/300912|C16.320.400.525/300912 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 98|MRX98|XLID98 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 OMIM:300919 DO:DOID:0112026 MESH:D038901 C10.597.606.360.455/300919|C16.320.322.500/300919|C16.320.400.525/300919 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 99|MRX99|XLID99 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED OMIM:300968 DO:DOID:0112025 MESH:D038901 C10.597.606.360.455/300968|C16.320.322.500/300968|C16.320.400.525/300968 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED|MRXS99F Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 OMIM:300055 DO:DOID:0060827 MESH:D038901 C10.597.606.360.455/300055|C16.320.322.500/300055|C16.320.400.525/300055 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM|MENTAL RETARDATION, X-LINKED 16|MENTAL RETARDATION, X-LINKED 79|MENTAL RETARDATION, X-LINKED, SYNDROMIC 13|MENTAL RETARDATION, X-LINKED, WITH SPASTICITY|MRX16|MRX79|MRXS13|PPMX Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 32 OMIM:300886 DO:DOID:0060828 MESH:D038901 C10.597.606.360.455/300886|C16.320.322.500/300886|C16.320.400.525/300886 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED, SYNDROMIC 32|MRXS32 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 OMIM:300966 MESH:D038901 C10.597.606.360.455/300966|C16.320.322.500/300966|C16.320.400.525/300966 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED, SYNDROMIC 33|MRXS33 Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 34 OMIM:300967 DO:DOID:0060817 MESH:D038901 C10.597.606.360.455/300967|C16.320.322.500/300967|C16.320.400.525/300967 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34|MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE|MRXS34|MRXSML Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE OMIM:300986 MESH:D038901 C10.597.606.360.455/300986|C16.320.322.500/300986|C16.320.400.525/300986 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE|MRXSB Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE OMIM:300354 DO:DOID:0060822 MESH:C567069|MESH:D006130|MESH:D007006|MESH:D009133|MESH:D014202 C10.597.350.850/300354|C10.597.606.360.455/C567069/300354|C10.597.613.612/300354|C16.320.322.500/C567069/300354|C16.320.400.525/C567069/300354|C19.391.482/300354|C23.300.070.500/300354|C23.550.393/300354|C23.888.592.350.850/300354|C23.888.592.608.612/300354 C10.597.350.850|C10.597.606.360.455/C567069|C10.597.613.612|C16.320.322.500/C567069|C16.320.400.525/C567069|C19.391.482|C23.300.070.500|C23.550.393|C23.888.592.350.850|C23.888.592.608.612 CABEZAS SYNDROME|MENTAL RETARDATION, X-LINKED, SYNDROMIC 15|MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE|MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE|MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT|MRSS|MRXS15|MRXSC Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE OMIM:300860 DO:DOID:0060820 MESH:D038901 C10.597.606.360.455/300860|C16.320.322.500/300860|C16.320.400.525/300860 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED, SYNDROMIC 30|MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE|MRXS30|MRXSN Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE OMIM:300799 DO:DOID:0060824 MESH:D038901 C10.597.606.360.455/300799|C16.320.322.500/300799|C16.320.400.525/300799 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE|MRXSR Genetic disease (inborn)|Nervous system disease INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE OMIM:300958 MESH:D038901 C10.597.606.360.455/300958|C16.320.322.500/300958|C16.320.400.525/300958 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 102, FORMERLY|MRX102, FORMERLY|MRXSSB Genetic disease (inborn)|Nervous system disease Intellectual Disability MESH:D008607 Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) MESH:D019954|MESH:D065886 C10.597.606.360|C23.888.592.604.646|F03.625.539 C10.597.606|C23.888.592.604|F03.625 Deficiencies, Mental|Deficiency, Mental|Development Disorder, Intellectual|Development Disorders, Intellectual|Disabilities, Intellectual|Disability, Intellectual|Disorder, Intellectual Development|Disorders, Intellectual Development|Idiocy|Intellectual Development Disorder|Intellectual Development Disorders|Intellectual Disabilities|Mental Deficiencies|Mental Deficiency|Mental Retardation|Mental Retardation, Psychosocial|Mental Retardations, Psychosocial|Psychosocial Mental Retardation|Psychosocial Mental Retardations|Retardation, Mental|Retardation, Psychosocial Mental|Retardations, Psychosocial Mental Mental disorder|Nervous system disease|Signs and symptoms Interatrial Block MESH:D000074021 Impaired or delayed impulse conduction between the right and left HEART ATRIA. Advanced interatrial blocks are often associated with arrhythmias (e.g., ATRIAL FLUTTER; and ATRIAL FIBRILLATION), direct conduction block via the Bachmann's bundle and concomitant left atrial enlargement. Syndrome of advanced interatrial block associated with SUPRAVENTRICULAR TACHYCARDIA is referred to as Bayes syndrome. MESH:D006327 C14.280.067.558.430|C14.280.123.500.430|C23.550.073.425.270 C14.280.067.558|C14.280.123.500|C23.550.073.425 Bayes Syndrome|Bayes' Syndrome|Block, Interatrial|Conduction Delay, Interatrial|Interatrial Blocks|Interatrial Conduction Delay|Interatrial Conduction Delays Cardiovascular disease|Pathology (process) Interferon gamma, receptor 1, deficiency MESH:C535530 DO:DOID:0111955 MESH:D014777 C01.925/C535530 C01.925 Viral disease Interleukin 2 Receptor, Alpha, Deficiency of MESH:C565232 DO:DOID:0111968|OMIM:606367 MESH:D007153 C20.673/C565232 C20.673 CD25 Deficiency|IL2RA Deficiency|IMD41|IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY|INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF Immune system disease Intermittent Claudication MESH:D007383 DO:DOID:3669 A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE. MESH:D012816|MESH:D058729 C14.907.617.671.750|C23.888.531 C14.907.617.671|C23.888 Claudication, Intermittent Cardiovascular disease|Signs and symptoms Internal Carotid Artery, Spontaneous Dissection of MESH:C564125 MESH:D020215 C10.228.140.300.200.345.300/C564125|C10.228.140.300.350.500.300/C564125|C10.900.250.300.300/C564125|C14.907.055.448.500/C564125|C14.907.253.123.345.300/C564125|C14.907.253.535.500.300/C564125|C26.915.200.200.500/C564125 C10.228.140.300.200.345.300|C10.228.140.300.350.500.300|C10.900.250.300.300|C14.907.055.448.500|C14.907.253.123.345.300|C14.907.253.535.500.300|C26.915.200.200.500 Cardiovascular disease|Nervous system disease|Wounds and injuries Internal Hernia MESH:D000082122 A protrusion of an internal abdominal organ through a hole in an anatomical structure such as a muscle or a membrane. For instance, in paraduodenal hernia the SMALL INTESTINE herniates through an opening in the MESENTERIES. It includes intra-abdominal and diaphragmatic hernias. In abdominal hernia a protrusion occurs through a weak spot in the muscle of the ABDOMINAL WALL. MESH:D006547 C23.300.707.960 C23.300.707 Abdominal Hernia, Intra|Broad Ligament Hernia|Broad Ligament Hernias|Foramen of Winslow Hernia|Hernia, Broad Ligament|Hernia Foramen, Winslow|Hernia, Internal|Hernia, Intersigmoid|Hernia, Intra Abdominal|Hernia, Intramesenteric|Hernia, Lesser Sac|Hernia, Paracaecal|Hernia, Pelvic Internal|Hernia, Pericaecal|Hernia, Pericecal|Hernia, Retrocecal|Hernia, Sigmoid Mesocolon|Hernia, Supravesical|Herniation, Paracecal|Herniation, Pericaecal|Hernia, Transmesenteric|Hernia, Transmesosigmoid|Hernia, Transomental|Internal Hernia, Pelvic|Internal Hernias|Internal Herniation, Pericaecal|Intersigmoid Hernia|Intersigmoid Hernias|Intra-abdominal Hernia|Intra Abdominal Hernia|Intra-abdominal Hernias|Intra Abdominal Hernias|Intramesenteric Hernia|Intramesenteric Hernias|Lesser Sac Hernia|Lesser Sac Hernias|Ligament Hernia, Broad|Ligament Hernias, Broad|Paracaecal Hernia|Paracaecal Hernias|Paracecal Herniation|Paracecal Herniations|Pelvic Internal Hernia|Pelvic Internal Hernias|Pericaecal Hernia|Pericaecal Hernias|Pericaecal Herniation|Pericaecal Herniations|Pericaecal Internal Herniation|Pericaecal Internal Herniations|Pericecal Hernia|Pericecal Hernias|Retrocecal Hernia|Retrocecal Hernias|Sigmoid Mesocolon Hernia|Sigmoid Mesocolon Hernias|Supravesical Hernia|Supravesical Hernias|Transmesenteric Hernia|Transmesenteric Hernias|Transmesosigmoid Hernia|Transmesosigmoid Hernias|Transomental Hernia|Transomental Hernias|Winslow Hernia Foramen Pathology (anatomical condition) INTERSTITIAL LUNG AND LIVER DISEASE OMIM:615486 MESH:D008107|MESH:D017563 C06.552/615486|C08.381.483/615486 C06.552|C08.381.483 ILFS2, FORMERLY|ILLD|INFANTILE LIVER FAILURE SYNDROME 2, FORMERLY|PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND Digestive system disease|Respiratory tract disease INTERSTITIAL NEPHRITIS, KARYOMEGALIC OMIM:614817 DO:DOID:0060911 MESH:D009395 C12.050.351.968.419.570.643/614817|C12.200.777.419.570.643/614817|C12.950.419.570.643/614817 C12.050.351.968.419.570.643|C12.200.777.419.570.643|C12.950.419.570.643 KMIN Urogenital disease (female)|Urogenital disease (male) Interstitial Pneumonitis, Desquamative, Familial MESH:C562470 DO:DOID:0050158|OMIM:263000 MESH:D017563|MESH:D030342 C08.381.483/C562470|C16.320/C562470 C08.381.483|C16.320 DIP|ILD, DESQUAMATIVE|Interstitial Lung Disease, Desquamative|Pneumonia, Desquamative Interstitial, Familial|Pneumonitis, Desquamative Interstitial, Familial Genetic disease (inborn)|Respiratory tract disease Intertrigo MESH:D007402 A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation. MESH:D003872|MESH:D017443 C17.800.174.640|C17.800.815.650 C17.800.174|C17.800.815 Skin disease Intervertebral Disc Degeneration MESH:D055959 Degenerative changes in the INTERVERTEBRAL DISC due to aging or structural damage, especially to the vertebral end-plates. MESH:D013122 C05.116.900.153 C05.116.900 Degeneration, Disc|Degeneration, Disk|Degeneration, Intervertebral Disc|Degeneration, Intervertebral Disk|Degenerative Disc Disease|Degenerative Disc Diseases|Degenerative Intervertebral Disc|Degenerative Intervertebral Discs|Degenerative Intervertebral Disk|Degenerative Intervertebral Disks|Degradation, Disc|Degradation, Disk|Disc Degeneration|Disc Degeneration, Intervertebral|Disc Degenerations|Disc, Degenerative Intervertebral|Disc Degradation|Disc Degradations|Disc Disease, Degenerative|Disk Degeneration|Disk Degeneration, Intervertebral|Disk Degenerations|Disk, Degenerative Intervertebral|Disk Degradation|Disk Degradations|Intervertebral Disc Degenerations|Intervertebral Disc, Degenerative|Intervertebral Disk Degeneration|Intervertebral Disk Degenerations|Intervertebral Disk, Degenerative Musculoskeletal disease Intervertebral disc disease MESH:C535531 OMIM:603932 MESH:D007405|MESH:D055959 C05.116.900.153/C535531|C05.116.900.307/C535531|C23.300.707.952/C535531 C05.116.900.153|C05.116.900.307|C23.300.707.952 IDD|LDD, INCLUDED|LUMBAR DISC DEGENERATION, SUSCEPTIBILITY TO, INCLUDED|Lumbar Disc Disease|LUMBAR DISC DISEASE, INCLUDED|LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO, INCLUDED Musculoskeletal disease|Pathology (anatomical condition) Intervertebral Disc Displacement MESH:D007405 An INTERVERTEBRAL DISC in which the NUCLEUS PULPOSUS has protruded through surrounding ANNULUS FIBROSUS. This occurs most frequently in the lower lumbar region. MESH:D006547|MESH:D013122 C05.116.900.307|C23.300.707.952 C05.116.900|C23.300.707 Disc Displacement, Intervertebral|Disc, Herniated|Disc Herniation|Disc Herniations|Disc, Prolapsed|Disc, Protruded|Disc Protrusion|Disc Protrusion, Intervertebral|Disc Protrusions|Disc Protrusions, Intervertebral|Disc, Slipped|Discs, Protruded|Disk Displacement, Intervertebral|Disk, Herniated|Disk Herniation|Disk Herniations|Disk Prolapse|Disk, Prolapsed|Disk Prolapses|Disk, Protruded|Disk Protrusion|Disk Protrusion, Intervertebral|Disk Protrusions|Disk, Slipped|Herniated Disc|Herniated Discs|Herniated Disk|Herniated Disks|Herniation, Disc|Herniation, Disk|Herniation, Intervertebral Disc|Herniation, Intervertebral Disk|Intervertebral Disc Displacements|Intervertebral Disc Herniation|Intervertebral Disc Herniations|Intervertebral Disc Protrusion|Intervertebral Disc Protrusions|Intervertebral Disk Displacement|Intervertebral Disk Displacements|Intervertebral Disk Herniation|Intervertebral Disk Herniations|Intervertebral Disk Protrusion|Intervertebral Disk Protrusions|Prolapsed Disc|Prolapsed Discs|Prolapsed Disk|Prolapsed Disks|Prolapse, Disk|Prolapses, Disk|Protruded Disc|Protruded Discs|Protruded Disk|Protruded Disks|Protrusion, Disc|Protrusion, Disk|Protrusion, Intervertebral Disc|Protrusion, Intervertebral Disk|Protrusions, Intervertebral Disk|Slipped Disc|Slipped Discs|Slipped Disk|Slipped Disks Musculoskeletal disease|Pathology (anatomical condition) Intestinal Atresia MESH:D007409 DO:DOID:10486 Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed) MESH:D004065|MESH:D007410 C06.198.719|C06.405.469.445|C16.131.314.466 C06.198|C06.405.469|C16.131.314 Apple Peel Intestinal Atresia|Apple-Peel Intestinal Atresia|Apple-Peel Intestinal Atresias|Apple Peel Small Bowel Syndrome|Apple Peel Syndrome|Apple Peel Syndromes|Atresia, Apple-Peel Intestinal|Atresia, Congenital Intestinal|Atresia, Intestinal|Atresia, Jejunal|Atresias, Apple-Peel Intestinal|Atresias, Congenital Intestinal|Congenital Intestinal Atresia|Congenital Intestinal Atresias|Familial Apple Peel Jejunal Atresia|Intestinal Atresia, Apple-Peel|Intestinal Atresia, Congenital|Intestinal Atresias, Apple-Peel|Intestinal Atresias, Congenital|Jejunal Atresia Congenital abnormality|Digestive system disease Intestinal Atresia, Multiple MESH:C562441 DO:DOID:14671|OMIM:243150 MESH:D007409 C06.198.719/C562441|C06.405.469.445/C562441|C16.131.314.466/C562441 C06.198.719|C06.405.469.445|C16.131.314.466 Familial Intestinal Polyatresia Syndrome|FIPA|GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 1|GIDID1|INTESTINAL ATRESIA, MULTIPLE|MINAT|MULTIPLE INTESTINAL ATRESIA AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY Congenital abnormality|Digestive system disease Intestinal Diseases MESH:D007410 DO:DOID:5295 Pathological processes in any segment of the INTESTINE from DUODENUM to RECTUM. MESH:D005767 C06.405.469 C06.405 Disease, Intestinal|Diseases, Intestinal|Intestinal Disease Digestive system disease Intestinal Diseases, Parasitic MESH:D007411 Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS. MESH:D007410|MESH:D010272 C01.610.432|C06.405.469.452 C01.610|C06.405.469 Disease, Parasitic Intestinal|Diseases, Parasitic Intestinal|Intestinal Disease, Parasitic|Parasitic Intestinal Disease|Parasitic Intestinal Diseases Digestive system disease|Parasitic disease Intestinal Failure MESH:D000090124 Various intestinal diseases functionally defined as having reduced intestine function requiring PARENTERAL NUTRITION. MESH:D007410 C06.405.469.462 C06.405.469 Failure, Intestinal Digestive system disease Intestinal Fistula MESH:D007412 An abnormal anatomical passage between the INTESTINE, and another segment of the intestine or other organs. External intestinal fistula is connected to the SKIN (enterocutaneous fistula). Internal intestinal fistula can be connected to a number of organs, such as STOMACH (gastrocolic fistula), the BILIARY TRACT (cholecystoduodenal fistula), or the URINARY BLADDER of the URINARY TRACT (colovesical fistula). Risk factors include inflammatory processes, cancer, radiation treatment, and surgical misadventures (MEDICAL ERRORS). MESH:D007410|MESH:D016154 C06.267.550|C06.405.469.471|C23.300.575.185.550 C06.267|C06.405.469|C23.300.575.185 Cholecystoduodenal Fistula|Colovesical Fistula|Enterocutaneous Fistula|Fistula, Cholecystoduodenal|Fistula, Colovesical|Fistula, Enterocutaneous|Fistula, Intestinal Digestive system disease|Pathology (anatomical condition) Intestinal helminthiasis MESH:C531698 MESH:D006373|MESH:D007411 C01.610.335/C531698|C01.610.432/C531698|C06.405.469.452/C531698 C01.610.335|C01.610.432|C06.405.469.452 Digestive system disease|Parasitic disease Intestinal lipophagic granulomatosis MESH:C531849 MESH:D008061 C01.150.252.410.040.137.631/C531849|C06.405.469.637.925/C531849|C18.452.603.925/C531849 C01.150.252.410.040.137.631|C06.405.469.637.925|C18.452.603.925 Secondary Non-tropical Sprue Bacterial infection or mycosis|Digestive system disease|Metabolic disease Intestinal Neoplasms MESH:D007414 DO:DOID:10155|DO:DOID:4610 Tumors or cancer of the INTESTINES. MESH:D005770|MESH:D007410 C04.588.274.476.411|C06.301.371.411|C06.405.249.411|C06.405.469.491 C04.588.274.476|C06.301.371|C06.405.249|C06.405.469 Cancer, Intestinal|Cancer, Intestines|Cancer of Intestines|Cancer of the Intestines|Cancers, Intestinal|Cancers, Intestines|Intestinal Cancer|Intestinal Cancers|Intestinal Neoplasm|Intestines Cancer|Intestines Cancers|Intestines Neoplasm|Intestines Neoplasms|Neoplasm, Intestinal|Neoplasm, Intestines|Neoplasms, Intestinal|Neoplasms, Intestines Cancer|Digestive system disease Intestinal Obstruction MESH:D007415 DO:DOID:8437 Any impairment, arrest, or reversal of the normal flow of INTESTINAL CONTENTS toward the ANAL CANAL. MESH:D007410 C06.405.469.531 C06.405.469 Intestinal Obstructions|Obstruction, Intestinal Digestive system disease Intestinal Perforation MESH:D007416 DO:DOID:2074 Opening or penetration through the wall of the INTESTINES. MESH:D007410 C06.405.469.557 C06.405.469 Intestinal Perforations|Perforation, Intestinal|Perforations, Intestinal Digestive system disease Intestinal Polyposis MESH:D044483 The growth of INTESTINAL POLYPS. Growth processes include neoplastic (ADENOMA and CARCINOMA) and non-neoplastic (hyperplastic, mucosal, inflammatory, and other polyps). MESH:D007410 C06.405.469.578 C06.405.469 Cronkhite-Canada Syndrome|Polyposis, Intestinal|Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes Digestive system disease Intestinal polyposis, osteomas, sebaceous cysts MESH:C535644 MESH:D005736 C04.557.470.035.215.100.500/C535644|C04.588.274.476.411.307.089.393/C535644|C04.700.100.392/C535644|C06.301.371.411.307.090.500/C535644|C06.405.249.411.307.090.500/C535644|C06.405.469.158.356.090.500/C535644|C06.405.469.491.307.090.500/C535644|C06.405.469.578.249.393/C535644|C16.131.077.393/C535644|C16.320.700.100.393/C535644 C04.557.470.035.215.100.500|C04.588.274.476.411.307.089.393|C04.700.100.392|C06.301.371.411.307.090.500|C06.405.249.411.307.090.500|C06.405.469.158.356.090.500|C06.405.469.491.307.090.500|C06.405.469.578.249.393|C16.131.077.393|C16.320.700.100.393 Polyposis coli and multiple hard and soft tissue tumors Cancer|Congenital abnormality|Digestive system disease|Genetic disease (inborn) Intestinal Polyps MESH:D007417 Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base. MESH:D011127 C23.300.825.411 C23.300.825 Intestinal Polyp|Polyp, Intestinal|Polyps, Intestinal Pathology (anatomical condition) Intestinal Pseudo-Obstruction MESH:D007418 DO:DOID:0080072|DO:DOID:8442|OMIM:615237 A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM. MESH:D045823 C06.405.469.531.492.500 C06.405.469.531.492 Chronic Idiopathic Intestinal Pseudo Obstruction|Chronic Idiopathic Intestinal Pseudo-Obstruction|Congenital Short Bowel Syndrome|CSBS|Enteric Neuropathies|Enteric Neuropathy|Idiopathic Intestinal Pseudo-Obstruction|Idiopathic Intestinal Pseudo-Obstructions|Intestinal Pseudoobstruction|Intestinal Pseudo Obstruction|Intestinal Pseudo Obstruction, Idiopathic|Intestinal Pseudo-Obstruction, Idiopathic|Intestinal Pseudoobstructions|Intestinal Pseudo-Obstructions|Intestinal Pseudo-Obstructions, Idiopathic|Myopathy, Visceral|Neuropathy, Enteric|Obstruction Syndrome, Pseudointestinal|Paralytic Ileus|Pseudointestinal Obstruction Syndrome|Pseudointestinal Obstruction Syndromes|Pseudoobstruction, Intestinal|Pseudo Obstruction, Intestinal|Pseudo-Obstruction, Intestinal|Pseudoobstructive Syndrome|Pseudoobstructive Syndromes|Syndrome, Pseudointestinal Obstruction|Syndrome, Pseudoobstructive|Visceral Myopathies|Visceral Myopathy Digestive system disease Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth MESH:C538341 MESH:D004374|MESH:D007418 C06.405.469.531.492.500/C538341|C14.240.400.340/C538341|C14.280.400.340/C538341|C16.131.240.400.340/C538341 C06.405.469.531.492.500|C14.240.400.340|C14.280.400.340|C16.131.240.400.340 Natal teeth, intestinal pseudoobstruction and patent ductus Cardiovascular disease|Congenital abnormality|Digestive system disease Intestinal Volvulus MESH:D045822 DO:DOID:8445 A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION. MESH:D007415|MESH:D014102 C06.405.469.531.568|C23.300.970.500 C06.405.469.531|C23.300.970 Volvulus|Volvulus, Intestinal|Volvulus, Intestine Digestive system disease|Pathology (anatomical condition) Intra-Abdominal Hypertension MESH:D059325 Pathological elevation of intra-abdominal pressure (>12 mm Hg). It may develop as a result of SEPSIS; PANCREATITIS; capillary leaks, burns, or surgery. When the pressure is higher than 20 mm Hg, often with end-organ dysfunction, it is referred to as abdominal compartment syndrome. MESH:D003161 C05.651.180.297|C14.907.303.297 C05.651.180|C14.907.303 Abdominal Compartment Syndrome|Abdominal Compartment Syndromes|Compartment Syndrome, Abdominal|Compartment Syndromes, Abdominal|Hypertension, Intraabdominal|Hypertension, Intra-Abdominal|Hypertensions, Intraabdominal|Hypertensions, Intra-Abdominal|Intraabdominal Hypertension|Intra Abdominal Hypertension|Intraabdominal Hypertensions|Intra-Abdominal Hypertensions|Syndrome, Abdominal Compartment|Syndromes, Abdominal Compartment Cardiovascular disease|Musculoskeletal disease Intraabdominal Infections MESH:D059413 Infection within the PERITONEAL CAVITY. A frequent cause is an ANASTOMOTIC LEAK following surgery. MESH:D007239 C01.463 C01 Infection, Intraabdominal|Infection, Intra-Abdominal|Infections, Intraabdominal|Infections, Intra-Abdominal|Intraabdominal Infection|Intra-Abdominal Infection|Intra Abdominal Infections|Intra-Abdominal Infections Intra-Articular Fractures MESH:D057072 Fractures of the articular surface of a bone. MESH:D050723 C26.404.505 C26.404 Fracture, Intraarticular|Fracture, Intra-Articular|Fractures, Intraarticular|Fractures, Intra-Articular|Intraarticular Fracture|Intra-Articular Fracture|Intraarticular Fractures|Intra Articular Fractures Wounds and injuries Intracranial Aneurysm MESH:D002532 DO:DOID:10941 Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841) MESH:D000783|MESH:D020765 C10.228.140.300.510.600|C14.907.055.635|C14.907.253.560.300 C10.228.140.300.510|C14.907.055|C14.907.253.560 Aneurysm, Anterior Cerebral Artery|Aneurysm, Anterior Communicating Artery|Aneurysm, Basilar Artery|Aneurysm, Berry|Aneurysm, Brain|Aneurysm, Cerebral|Aneurysm, Giant Intracranial|Aneurysm, Intracranial|Aneurysm, Intracranial Mycotic|Aneurysm, Middle Cerebral Artery|Aneurysm, Posterior Cerebral Artery|Aneurysm, Posterior Communicating Artery|Aneurysms, Basilar Artery|Aneurysms, Berry|Aneurysms, Brain|Aneurysms, Cerebral|Aneurysms, Giant Intracranial|Aneurysms, Intracranial|Aneurysms, Intracranial Mycotic|Anterior Cerebral Artery Aneurysm|Anterior Communicating Artery Aneurysm|Artery Aneurysm, Basilar|Artery Aneurysms, Basilar|Basilar Artery Aneurysm|Basilar Artery Aneurysms|Berry Aneurysm|Berry Aneurysms|Brain Aneurysm|Brain Aneurysms|Cerebral Aneurysm|Cerebral Aneurysms|Giant Intracranial Aneurysm|Giant Intracranial Aneurysms|Intracranial Aneurysm, Giant|Intracranial Aneurysms|Intracranial Aneurysms, Giant|Intracranial Mycotic Aneurysm|Intracranial Mycotic Aneurysms|Middle Cerebral Artery Aneurysm|Mycotic Aneurysm, Intracranial|Mycotic Aneurysms, Intracranial|Posterior Cerebral Artery Aneurysm|Posterior Communicating Artery Aneurysm Cardiovascular disease|Nervous system disease Intracranial Arterial Diseases MESH:D020765 DO:DOID:13089 Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes. MESH:D002561 C10.228.140.300.510|C14.907.253.560 C10.228.140.300|C14.907.253 Arterial Brain Disease|Arterial Brain Diseases|Arterial Brain Disorder|Arterial Brain Disorders|Arterial Disease, Brain|Arterial Disease, Intracranial|Arterial Diseases, Brain|Arterial Diseases, Intracranial|Arterial Disorder, Intracranial|Arterial Disorders, Intracranial|Brain Arterial Disease|Brain Arterial Diseases|Brain Diseases, Arterial|Brain Disorder, Arterial|Brain Disorders, Arterial|Intracranial Arterial Disease|Intracranial Arterial Disorder|Intracranial Arterial Disorders Cardiovascular disease|Nervous system disease Intracranial Arteriosclerosis MESH:D002537 DO:DOID:12720|DO:DOID:13097 Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS. MESH:D001161|MESH:D020765 C10.228.140.300.510.800|C14.907.137.126.372|C14.907.253.560.350 C10.228.140.300.510|C14.907.137.126|C14.907.253.560 Arterioscleroses, Cerebral|Arterioscleroses, Intracranial|Arteriosclerosis, Cerebral|Arteriosclerosis, Intracranial|Atheroscleroses, Cerebral|Atheroscleroses, Intracranial|Atherosclerosis, Cerebral|Atherosclerosis, Intracranial|Cerebral Arterioscleroses|Cerebral Arteriosclerosis|Cerebral Atheroscleroses|Cerebral Atherosclerosis|Intracranial Arterioscleroses|Intracranial Atheroscleroses|Intracranial Atherosclerosis Cardiovascular disease|Nervous system disease Intracranial Arteriovenous Malformations MESH:D002538 DO:DOID:0060688|OMIM:108010 Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect. MESH:D001165|MESH:D002561|MESH:D020765|MESH:D020785 C10.228.140.300.520|C10.500.190.500|C14.240.850.750.295|C14.240.850.875.500|C14.907.150.295|C14.907.253.560.400|C16.131.240.850.750.295|C16.131.240.850.875.500|C16.131.666.190.500 C10.228.140.300|C10.500.190|C14.240.850.750|C14.240.850.875|C14.907.150|C14.907.253.560|C16.131.240.850.750|C16.131.240.850.875|C16.131.666.190 Arteriovenous Malformation, Cerebral|Arteriovenous Malformation, Intracranial|Arteriovenous Malformations, Cerebral|Arteriovenous Malformations, Intracranial|ARTERIOVENOUS MALFORMATIONS OF THE BRAIN|AVM (Arteriovenous Malformation) Intracranial|BAVM|Cerebral Arteriovenous Malformation|Cerebral Arteriovenous Malformations|CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO, INCLUDED|Congenital Intracranial Arteriovenous Malformations|Intracranial Arteriovenous Malformation|Intracranial Arteriovenous Malformation, Ruptured|Intracranial Arteriovenous Malformations, Congenital|Malformation, Cerebral Arteriovenous|Malformation, Intracranial Arteriovenous|Malformations, Cerebral Arteriovenous|Malformations, Intracranial Arteriovenous|Ruptured Intracranial Arteriovenous Malformation Cardiovascular disease|Congenital abnormality|Nervous system disease Intracranial Embolism MESH:D020766 DO:DOID:4372 Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES. MESH:D002542 C10.228.140.300.525.400|C14.907.253.566.300|C14.907.355.590.213.300 C10.228.140.300.525|C14.907.253.566|C14.907.355.590.213 Brain Emboli|Brain Embolism|Brain Embolus|Cerebral Emboli|Cerebral Embolism|Cerebral Embolus|Emboli, Brain|Emboli, Cerebral|Embolism, Brain|Embolism, Cerebral|Embolism, Intracranial|Embolus, Brain|Embolus, Cerebral Cardiovascular disease|Nervous system disease Intracranial Embolism and Thrombosis MESH:D002542 Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures. MESH:D002561|MESH:D013923 C10.228.140.300.525|C14.907.253.566|C14.907.355.590.213 C10.228.140.300|C14.907.253|C14.907.355.590 Brain Embolism and Thrombosis|Cerebral Embolism and Thrombosis|Embolism and Thrombosis, Brain Cardiovascular disease|Nervous system disease Intracranial Hemorrhage, Hypertensive MESH:D020299 Bleeding within the SKULL that is caused by systemic HYPERTENSION, usually in association with INTRACRANIAL ARTERIOSCLEROSIS. Hypertensive hemorrhages are most frequent in the BASAL GANGLIA; CEREBELLUM; PONS; and THALAMUS; but may also involve the CEREBRAL CORTEX, subcortical white matter, and other brain structures. MESH:D020300 C10.228.140.300.535.325|C14.907.253.573.350 C10.228.140.300.535|C14.907.253.573 Cerebral Hemorrhage, Hypertensive|Cerebral Hemorrhages, Hypertensive|Cerebral Hypertensive Hemorrhage|Cerebral Hypertensive Hemorrhages|Hemorrhage, Cerebral Hypertensive|Hemorrhage, Hypertensive Cerebral|Hemorrhage, Hypertensive Intracerebral|Hemorrhage, Hypertensive Intracranial|Hemorrhage, Intracranial Hypertensive|Hemorrhages, Cerebral Hypertensive|Hemorrhages, Hypertensive Cerebral|Hemorrhages, Hypertensive Intracerebral|Hemorrhages, Hypertensive Intracranial|Hemorrhages, Intracranial Hypertensive|Hypertensive Cerebral Hemorrhage|Hypertensive Cerebral Hemorrhages|Hypertensive Hemorrhage, Cerebral|Hypertensive Hemorrhage, Intracranial|Hypertensive Hemorrhages, Cerebral|Hypertensive Hemorrhages, Intracranial|Hypertensive Intracerebral Hemorrhage|Hypertensive Intracerebral Hemorrhages|Hypertensive Intracranial Hemorrhage|Hypertensive Intracranial Hemorrhages|Intracerebral Hemorrhage, Hypertensive|Intracerebral Hemorrhages, Hypertensive|Intracranial Hemorrhages, Hypertensive|Intracranial Hypertensive Hemorrhage|Intracranial Hypertensive Hemorrhages Cardiovascular disease|Nervous system disease Intracranial Hemorrhages MESH:D020300 Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces. MESH:D002561|MESH:D006470 C10.228.140.300.535|C14.907.253.573|C23.550.414.913 C10.228.140.300|C14.907.253|C23.550.414 Brain Hemorrhage|Brain Hemorrhages|Hemorrhage, Brain|Hemorrhage, Intracranial|Hemorrhage, Posterior Fossa|Hemorrhages, Brain|Hemorrhages, Intracranial|Hemorrhages, Posterior Fossa|Intracranial Hemorrhage|Posterior Fossa Hemorrhage|Posterior Fossa Hemorrhages Cardiovascular disease|Nervous system disease|Pathology (process) Intracranial Hemorrhage, Traumatic MESH:D020198 Bleeding within the SKULL induced by penetrating and nonpenetrating traumatic injuries, including hemorrhages into the tissues of CEREBRUM; BRAIN STEM; and CEREBELLUM; as well as into the epidural, subdural and subarachnoid spaces of the MENINGES. MESH:D006259|MESH:D020300 C10.228.140.300.535.450|C10.900.300.837|C14.907.253.573.400|C26.915.300.490 C10.228.140.300.535|C10.900.300|C14.907.253.573|C26.915.300 Hematomas, Traumatic Intracranial|Hematoma, Traumatic Intracranial|Hemorrhage, Intracranial, Traumatic|Hemorrhages, Traumatic Intracranial|Hemorrhage, Traumatic Intracranial|Intracranial Hematomas, Traumatic|Intracranial Hematoma, Traumatic|Intracranial Hemorrhages, Traumatic|Traumatic Intracranial Hematoma|Traumatic Intracranial Hematomas|Traumatic Intracranial Hemorrhage|Traumatic Intracranial Hemorrhages Cardiovascular disease|Nervous system disease|Wounds and injuries Intracranial Hypertension MESH:D019586 DO:DOID:9428 Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders. MESH:D001927 C10.228.140.631 C10.228.140 Elevated ICP (Intracranial Pressure)|Elevated Intracranial Pressure|Hypertension, Intracranial|ICP, Elevated (Intracranial Pressure)|ICP (Intracranial Pressure) Elevation|ICP (Intracranial Pressure) Increase|Intracranial Pressure, Elevated|Intracranial Pressure Increase|Pressure, Elevated Intracranial|Pressure Increase, Intracranial Nervous system disease Intracranial Hypotension MESH:D019585 DO:DOID:4723 Reduction of CEREBROSPINAL FLUID pressure characterized clinically by ORTHOSTATIC HEADACHE and occasionally by an ABDUCENS NERVE PALSY; HEARING LOSS; NAUSEA; neck stiffness, and other symptoms. This condition may be spontaneous or secondary to CEREBROSPINAL FLUID LEAK; SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8) MESH:D001927 C10.228.140.638 C10.228.140 Cerebrospinal Fluid Hypovolemia|Cerebrospinal Fluid Hypovolemias|CSF Hypovolemia|CSF Hypovolemias|Essential Intracranial Hypotension|Fluid Hypovolemia, Cerebrospinal|Fluid Hypovolemias, Cerebrospinal|Hypotension, Essential Intracranial|Hypotension, Intracranial|Hypotension, Secondary Intracranial|Hypotension, Spontaneous Intracranial|Hypovolemia, Cerebrospinal Fluid|Hypovolemia, CSF|Hypovolemias, Cerebrospinal Fluid|Hypovolemias, CSF|Intracranial Hypotension, Essential|Intracranial Hypotension, Secondary|Intracranial Hypotension, Spontaneous|Secondary Intracranial Hypotension|Spontaneous Intracranial Hypotension Nervous system disease Intracranial Thrombosis MESH:D020767 DO:DOID:4193 Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS. MESH:D002542 C10.228.140.300.525.425|C14.907.253.566.350|C14.907.355.590.213.350 C10.228.140.300.525|C14.907.253.566|C14.907.355.590.213 Brain Thromboses|Brain Thrombosis|Brain Thrombus|Cerebral Thromboses|Cerebral Thrombosis|Cerebral Thrombus|Intracranial Thromboses|Intracranial Thrombus|Thromboses, Brain|Thromboses, Cerebral|Thromboses, Intracranial|Thrombosis, Brain|Thrombosis, Cerebral|Thrombosis, Intracranial|Thrombus, Brain|Thrombus, Cerebral|Thrombus, Intracranial Cardiovascular disease|Nervous system disease Intrahepatic Cholestasis of Pregnancy MESH:C535932 DO:DOID:0070227|OMIM:147480|OMIM:614972 MESH:D002780|MESH:D011248 C06.130.120.135.250/C535932|C06.552.150/C535932|C12.050.703/C535932 C06.130.120.135.250|C06.552.150|C12.050.703 Cholestasis, intrahepatic of pregnancy|Cholestasis, Intrahepatic, Of Pregnancy|CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1|CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3|Cholestasis, Pregnancy-Related|CHOLESTASIS, PREGNANCY-RELATED, 1|Familial intrahepatic cholestasis of pregnancy|Familial recurrent intrahepatic cholestasis of pregnancy|ICP1|ICP3|Obstetric Cholestasis|Pregnancy related cholestasis|Pregnancy-Related Cholestasis|Recurrent intrahepatic cholestasis of pregnancy Digestive system disease|Pregnancy complication Intranuclear Rod Myopathy MESH:C580202 MESH:D017696 C05.651.575.290/C580202|C10.668.491.550.290/C580202 C05.651.575.290|C10.668.491.550.290 Intranuclear Nemaline Rod Myopathy|Nemaline Myopathy with Exclusively Intranuclear Rods Musculoskeletal disease|Nervous system disease Intraocular Lymphoma MESH:D064090 DO:DOID:775 A form of malignant cancer which occurs within the eyeball. MESH:D005134|MESH:D008223 C04.557.386.435|C04.588.364.447|C15.604.515.569.417|C20.683.515.761.417 C04.557.386|C04.588.364|C15.604.515.569|C20.683.515.761 Intraocular Lymphomas|Lymphoma, Intraocular|Lymphomas, Intraocular Cancer|Immune system disease|Lymphatic disease Intraoperative Awareness MESH:D058926 Occurence of a patient becoming conscious during a procedure performed under GENERAL ANESTHESIA and subsequently having recall of these events. (From Anesthesiology 2006, 104(4): 847-64.) MESH:D007431 C23.550.505.400 C23.550.505 Anesthesia Awareness|Anesthesia, Awareness During|Awareness, Anesthesia|Awareness During Anesthesia|Awareness, Intraoperative|During Anesthesia, Awareness Pathology (process) Intraoperative Complications MESH:D007431 Complications that affect patients during surgery. They may or may not be associated with the disease for which the surgery is done, or within the same surgical procedure. MESH:D010335 C23.550.505 C23.550 Complication, Intraoperative|Complication, Peroperative|Complications, Intraoperative|Complications, Peroperative|Injuries, Surgical|Injury, Surgical|Intraoperative Complication|Peroperative Complication|Peroperative Complications|Surgical Injuries|Surgical Injury Pathology (process) Intrauterine Device Migration MESH:D058736 The shifting in position or location of an INTRAUTERINE DEVICE from its original placement. MESH:D005548 C26.392.500.500 C26.392.500 Device Migration, Intrauterine|Device Migrations, Intrauterine|Intrauterine Device Migrations|IUD Migration|IUD Migrations|Migration, Intrauterine Device|Migration, IUD|Migrations, Intrauterine Device|Migrations, IUD Wounds and injuries Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies MESH:C564543 OMIM:614732 MESH:D000309|MESH:D005317|MESH:D010009|MESH:D014564 C05.116.099.708/C564543|C12.050.351.875/C564543|C12.050.703.277.370/C564543|C12.200.706/C564543|C12.800/C564543|C16.131.939/C564543|C16.300.390/C564543|C16.320.728/C564543|C19.053.500/C564543|C23.550.393.450/C564543 C05.116.099.708|C12.050.351.875|C12.050.703.277.370|C12.200.706|C12.800|C16.131.939|C16.300.390|C16.320.728|C19.053.500|C23.550.393.450 Adrenal Hypoplasia, Cytomegalic Type|IMAGE|IMAGE Syndrome Congenital abnormality|Endocrine system disease|Fetal disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Pregnancy complication|Urogenital disease (female)|Urogenital disease (male) Intrinsic Factor and R Binder, Combined Congenital Deficiency of MESH:C565461 MESH:D008661 C16.320.565/C565461|C18.452.648/C565461 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Intrinsic Factor Deficiency MESH:C563242 OMIM:261000 MESH:D000752 C15.378.071.252.196.500/C563242|C18.654.521.500.133.699.923.280/C563242 C15.378.071.252.196.500|C18.654.521.500.133.699.923.280 IFD|Pernicious Anemia, Congenital, due to Defect of Intrinsic Factor Blood disease|Nutrition disorder Intussusception MESH:D007443 DO:DOID:8446 A form of intestinal obstruction caused by the PROLAPSE of a part of the intestine into the adjoining intestinal lumen. There are four types: colic, involving segments of the LARGE INTESTINE; enteric, involving only the SMALL INTESTINE; ileocecal, in which the ILEOCECAL VALVE prolapses into the CECUM, drawing the ILEUM along with it; and ileocolic, in which the ileum prolapses through the ileocecal valve into the COLON. MESH:D007415 C06.405.469.531.577 C06.405.469.531 Intestinal Invagination|Intestinal Invaginations|Intussusceptions|Intususception|Intususceptions|Invagination, Intestinal|Invaginations, Intestinal Digestive system disease Invasive Fungal Infections MESH:D000072742 Mycoses which manifest as infections of deep tissue or blood. MESH:D009181 C01.150.703.492 C01.150.703 Disseminated Fungal Infection|Disseminated Fungal Infections|Fungal Infection, Disseminated|Fungal Infection, Invasive|Infection, Disseminated Fungal|Infection, Invasive Fungal|Invasive Fungal Infection|Invasive Mycoses|Mycoses, Invasive Bacterial infection or mycosis Invasive Pneumococcal Disease, Recurrent Isolated, 2 MESH:C564468 OMIM:300636 MESH:D007153|MESH:D011008 C01.150.252.410.890.670/C564468|C20.673/C564468 C01.150.252.410.890.670|C20.673 AMCBX1|Atypical Mycobacterial Infection, Disseminated, X-Linked 1|Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 1|Atypical Mycobacteriosis, Familial, X-Linked 1|IMD33|IMMUNODEFICIENCY 33|INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2, FORMERLY|IPD2, FORMERLY|Mycobacterial Disease, Susceptibility To, X-Linked 1 Bacterial infection or mycosis|Immune system disease Invasive Pulmonary Aspergillosis MESH:D055744 Lung infections with the invasive forms of ASPERGILLUS, usually after surgery, transplantation, prolonged NEUTROPENIA or treatment with high-doses of CORTICOSTEROIDS. Invasive pulmonary aspergillosis can progress to CHRONIC NECROTIZING PULMONARY ASPERGILLOSIS or hematogenous spread to other organs. MESH:D000072742|MESH:D055732 C01.150.703.080.768.750|C01.150.703.492.688|C01.150.703.534.850.750|C08.381.472.850.750 C01.150.703.080.768|C01.150.703.492|C01.150.703.534.850|C08.381.472.850 Allergic Bronchopulmonary Mycoses|Allergic Bronchopulmonary Mycosis|Aspergillosis, Invasive Pulmonary|Bronchopulmonary Mycoses, Allergic|Bronchopulmonary Mycosis, Allergic|Chronic Necrotizing Pulmonary Aspergillosis|Mycoses, Allergic Bronchopulmonary|Mycosis, Allergic Bronchopulmonary|Pulmonary Aspergilloses, Invasive|Pulmonary Aspergillosis - Invasive|Pulmonary Aspergillosis Invasive|Pulmonary Aspergillosis, Invasive Bacterial infection or mycosis|Respiratory tract disease IRAK4 Deficiency MESH:C564352 OMIM:607676 MESH:D000081207 C16.320.798/C564352|C20.673.795/C564352 C16.320.798|C20.673.795 IKAK4D|IMD67|IMMUNODEFICIENCY 67|Invasive Pneumococcal Disease, Recurrent Isolated, 1|INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED;IPD INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST, INCLUDED|IRAK4D|Irak-4 Deficiency|IRAK4 DEFICIENCY Genetic disease (inborn)|Immune system disease Iridocorneal Endothelial Syndrome MESH:D057129 DO:DOID:11554 A grouping of three closely linked conditions: iris nevus (or Cogan-Reese) syndrome, Chandler Syndrome, and essential (progressive) iris atrophy. The most common features of this syndrome are the movement of endothelial cells off the cornea onto the iris leading to corneal swelling, distortion of the iris, and variable degrees of distortion of the pupil. The abnormal cell movement plugs fluid outflow channels of the eye causing GLAUCOMA. MESH:D003316|MESH:D007499 C11.204.497|C11.941.375.322 C11.204|C11.941.375 Chandler's Syndrome|Chandlers Syndrome|Chandler Syndrome|Endothelial Syndrome, Iridocorneal|ICE Syndrome|Iridocorneal Endothelial Syndromes|Iris Atrophy with Corneal Edema and Glaucoma Eye disease Iridocyclitis MESH:D015863 Acute or chronic inflammation of the iris and ciliary body characterized by exudates into the anterior chamber, discoloration of the iris, and constricted, sluggish pupil. Symptoms include radiating pain, photophobia, lacrimation, and interference with vision. MESH:D007499|MESH:D014606 C11.941.375.360|C11.941.879.780.880.400 C11.941.375|C11.941.879.780.880 Cyclitides, Heterochromic|Cyclitis, Heterochromic|Heterochromic Cyclitides|Heterochromic Cyclitis|Iridocyclitides Eye disease Iridogoniodysgenesis and skeletal anomalies MESH:C535534 MESH:D005124 C11.250/C535534|C16.131.384/C535534 C11.250|C16.131.384 Congenital abnormality|Eye disease Iridogoniodysgenesis, dominant type MESH:C535536 OMIM:137600 MESH:D005124|MESH:D005901|MESH:D007499|MESH:D014071 C07.650.800/C535536|C07.793.700/C535536|C11.250/C535536|C11.525.381/C535536|C11.941.375/C535536|C16.131.384/C535536|C16.131.850.800/C535536 C07.650.800|C07.793.700|C11.250|C11.525.381|C11.941.375|C16.131.384|C16.131.850.800 ANTERIOR SEGMENT DYSGENESIS 4|ASGD4|IGDS|IHGA|IRID2|Iridogoniodysgenesis syndrome|Iridogoniodysgenesis type 2|Iridogoniodysgenesis, Type 2|Iris hypoplasia with early onset glaucoma, autosomal dominant|Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant Congenital abnormality|Eye disease|Mouth disease Iridogoniodysgenesis type1 MESH:C535535 OMIM:601631 MESH:D005124|MESH:D005901|MESH:D007499 C11.250/C535535|C11.525.381/C535535|C11.941.375/C535535|C16.131.384/C535535 C11.250|C11.525.381|C11.941.375|C16.131.384 ANTERIOR SEGMENT DYSGENESIS 3|ASGD3|GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL|IGDA|IRID1|Iridogoniodysgenesis anomaly, Autosomal dominant|Iridogoniodysgenesis, Type 1|IRIS HYPOPLASIA WITH GLAUCOMA Congenital abnormality|Eye disease Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation MESH:C565462 MESH:D001763|MESH:D003103|MESH:D008607 C10.597.606.360/C565462|C11.250.110/C565462|C11.270.147/C565462|C11.338.204/C565462|C16.131.384.282/C565462|C23.888.592.604.646/C565462|F03.625.539/C565462 C10.597.606.360|C11.250.110|C11.270.147|C11.338.204|C16.131.384.282|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Iris Diseases MESH:D007499 DO:DOID:240 Diseases, dysfunctions, or disorders of or located in the iris. MESH:D014603 C11.941.375 C11.941 Disease, Iris|Diseases, Iris|Iris Disease Eye disease Iris dysplasia hypertelorism deafness MESH:C535537 MESH:D000015|MESH:D006849|MESH:D019066|MESH:D034381 C09.218.458.341/C535537|C10.228.140.602/C535537|C10.597.751.418.341/C535537|C16.131.077/C535537|C23.550.291.812/C535537|C23.888.592.763.393.341/C535537 C09.218.458.341|C10.228.140.602|C10.597.751.418.341|C16.131.077|C23.550.291.812|C23.888.592.763.393.341 Congenital abnormality|Ear-nose-throat disease|Nervous system disease|Pathology (process)|Signs and symptoms Iris flocculi MESH:C000721429 MESH:D007499 C11.941.375/C000721429 C11.941.375 Eye disease Iris hypoplasia and glaucoma MESH:C535538 OMIM:308500 MESH:D005901|MESH:D012164 C11.525.381/C535538|C11.768/C535538 C11.525.381|C11.768 IHG|Iris Hypoplasia with Glaucoma Eye disease Iris Neoplasms MESH:D015811 DO:DOID:3478 Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi. MESH:D007499|MESH:D014604 C04.588.364.978.400|C11.319.494.400|C11.941.375.375|C11.941.855.400 C04.588.364.978|C11.319.494|C11.941.375|C11.941.855 Iris Neoplasm|Neoplasm, Iris|Neoplasms, Iris Cancer|Eye disease Iris Pigment Epithelium Anomalies MESH:C566651 MESH:D015785 C11.270/C566651|C16.320.290/C566651 C11.270|C16.320.290 Cysts of Iris Pigment Epithelium|Ruffles and Cysts of Iris Pigment Epithelium Eye disease|Genetic disease (inborn) Iritis MESH:D007500 DO:DOID:1406 Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris. MESH:D007499|MESH:D014606 C11.941.375.385|C11.941.879.780.880.448 C11.941.375|C11.941.879.780.880 Iritides Eye disease Iron Deficiencies MESH:D000090463 Deficient amounts of iron in the body as a result of blood loss, diets deficient in iron, or an iron uptake or storage disorder. MESH:D019189 C18.452.565.400 C18.452.565 Deficiencies, Iron|Deficiencies, Latent Iron|Deficiency, Iron|Deficiency, Latent Iron|Hypoferritinemia|Hypoferritinemias|Iron Deficiencies, Latent|Iron Deficiency|Iron Deficiency, Latent|Latent Iron Deficiencies|Latent Iron Deficiency|Sideropenia|Sideropenias Metabolic disease Iron Metabolism Disorders MESH:D019189 DO:DOID:2351 Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed) MESH:D008659 C18.452.565 C18.452 Disorder, Iron Metabolism|Disorders, Iron Metabolism|Iron Metabolism Disorder|Metabolism Disorder, Iron|Metabolism Disorders, Iron Metabolic disease Iron Overload MESH:D019190 An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989) MESH:D019189 C18.452.565.500 C18.452.565 Overload, Iron Metabolic disease Iron Overload, Autosomal Dominant MESH:C565020 MESH:D019190 C18.452.565.500/C565020 C18.452.565.500 Metabolic disease Iron-Refractory Iron Deficiency Anemia MESH:C562385 DO:DOID:11252|OMIM:206200 MESH:D018798 C15.378.071.196.300/C562385|C18.452.565.400.500/C562385 C15.378.071.196.300|C18.452.565.400.500 Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism|IRIDA|IRIDA Iron-refractory iron deficiency anemia|Iron-Handling Disorder, Hereditary|Pseudo-Iron-Deficiency Anemia Blood disease|Metabolic disease Irons Bhan syndrome MESH:C535539 MESH:D006344|MESH:D008209|MESH:D019066 C14.240.400.560.375/C535539|C14.280.400.560.375/C535539|C15.604.496/C535539|C16.131.240.400.560.375/C535539|C23.550.291.812/C535539 C14.240.400.560.375|C14.280.400.560.375|C15.604.496|C16.131.240.400.560.375|C23.550.291.812 Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes|Lymphedema, atrial septal defect, and characteristic facial changes Cardiovascular disease|Congenital abnormality|Lymphatic disease|Pathology (process) Irresistible sleepiness, cataplexy and onset of sleep in desynchronized phase MESH:C538497 MESH:D009290 C10.886.425.800.200.750/C538497|F03.870.400.800.200.750/C538497 C10.886.425.800.200.750|F03.870.400.800.200.750 Mental disorder|Nervous system disease Irritable Bowel Syndrome MESH:D043183 DO:DOID:9778 A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION. MESH:D003109 C06.405.469.158.272.608 C06.405.469.158.272 Colitides, Mucous|Colitis, Mucous|Colon, Irritable|Irritable Bowel Syndromes|Irritable Colon|Mucous Colitides|Mucous Colitis|Syndrome, Irritable Bowel|Syndromes, Irritable Bowel Digestive system disease Irritable heart MESH:C531763 MESH:D054971 C10.177.575.600/C531763|C23.888.592.610/C531763 C10.177.575.600|C23.888.592.610 Soldiers heart Nervous system disease|Signs and symptoms Isaacs Syndrome MESH:D020386 OMIM:137200 A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491) MESH:D009135|MESH:D010523 C05.651.392|C10.668.829.425 C05.651|C10.668.829 Acquired Neuromyotonia|Continuous Muscle Activity Syndrome|Continuous Myokymia|Continuous Myokymias|Gamstorp Wohlfart Syndrome|Gamstorp-Wohlfart Syndrome|Isaacs Mertens Syndrome|Isaacs-Mertens Syndrome|Isaacs Pseudomyotonia Syndrome|Isaacs' Syndrome|Isaac Syndrome|Myokymia, Continuous|MYOKYMIA, MYOTONIA, AND MUSCLE WASTING|Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis|Myokymias, Continuous|Neuromyotonia|Neuromyotonia, Acquired|NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE|NMAN|Pseudomyotonia|Pseudomyotonia Syndrome of Isaacs|Quantal Squander|Syndrome of Continuous Muscle Activity Musculoskeletal disease|Nervous system disease Ischemia MESH:D007511 DO:DOID:326 A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION. MESH:D010335 C23.550.513 C23.550 Ischemias Pathology (process) Ischemic Attack, Transient MESH:D002546 DO:DOID:224 Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6) MESH:D002545 C10.228.140.300.150.836|C14.907.253.092.836 C10.228.140.300.150|C14.907.253.092 Anterior Circulation Transient Ischemic Attack|Attacks, Transient Ischemic|Attack, Transient Ischemic|Brainstem Ischemias, Transient|Brainstem Ischemia, Transient|Brain Stem Ischemia, Transient|Brainstem Transient Ischemic Attack|Brain Stem Transient Ischemic Attack|Brain TIA|Carotid Circulation Transient Ischemic Attack|Cerebral Ischemias, Transient|Cerebral Ischemia, Transient|Crescendo Transient Ischemic Attacks|Ischemias, Transient Brainstem|Ischemias, Transient Cerebral|Ischemia, Transient Brainstem|Ischemia, Transient Cerebral|Ischemic Attacks, Transient|Posterior Circulation Transient Ischemic Attack|TIA, Brain|TIAs (Transient Ischemic Attack)|TIA (Transient Ischemic Attack)|Transient Brainstem Ischemia|Transient Cerebral Ischemia|Transient Cerebral Ischemias|Transient Ischemic Attack|Transient Ischemic Attack, Anterior Circulation|Transient Ischemic Attack, Brainstem|Transient Ischemic Attack, Brain Stem|Transient Ischemic Attack, Carotid Circulation|Transient Ischemic Attack, Posterior Circulation|Transient Ischemic Attacks|Transient Ischemic Attacks, Crescendo|Transient Ischemic Attack, Vertebrobasilar Circulation|Vertebrobasilar Circulation Transient Ischemic Attack Cardiovascular disease|Nervous system disease Ischemic Contracture MESH:D054061 DO:DOID:5587 A type of permanent damage to muscles and nerves that results from prolonged lack blood flow to those tissues. It is characterized by shortening and stiffening of the muscles. MESH:D003161|MESH:D003286 C05.550.323.734|C05.651.180.531|C05.651.197.734|C14.907.303.531 C05.550.323|C05.651.180|C05.651.197|C14.907.303 Contracture, Ischemic|Contractures, Ischemic|Contractures, Volkmann|Contracture, Volkmann|Contracture, Volkmann's Ischemic|Ischemic Contractures|Ischemic Contracture, Volkmann's|Volkmann Contracture|Volkmann Contractures|Volkmann Ischemic Contracture|Volkmann's Ischemic Contracture|Volkmanns Ischemic Contracture Cardiovascular disease|Musculoskeletal disease Ischemic Stroke MESH:D000083242 OMIM:601367 Stroke due to BRAIN ISCHEMIA resulting in interruption or reduction of blood flow to a part of the brain. When obstruction is due to a BLOOD CLOT formed within in a cerebral blood vessel it is a thrombotic stroke. When obstruction is formed elsewhere and moved to block a cerebral blood vessel (see CEREBRAL EMBOLISM) it is referred to as embolic stroke. Wake-up stroke refers to ischemic stroke occurring during sleep while cryptogenic stroke refers to ischemic stroke of unknown origin. MESH:D020521 C10.228.140.300.775.400|C14.907.253.855.400 C10.228.140.300.775|C14.907.253.855 Acute Ischemic Stroke|Acute Ischemic Strokes|CEREBRAL INFARCTION|CEREBROVASCULAR ACCIDENT|Cryptogenic Embolism Stroke|Cryptogenic Embolism Strokes|Cryptogenic Ischemic Stroke|Cryptogenic Ischemic Strokes|Cryptogenic Stroke|Cryptogenic Strokes|Embolism Stroke, Cryptogenic|Ischaemic Stroke|Ischaemic Strokes|Ischemic Stroke, Acute|Ischemic Stroke, Cryptogenic|Ischemic Strokes|Stroke, Acute Ischemic|Stroke, Cryptogenic|Stroke, Cryptogenic Embolism|Stroke, Cryptogenic Ischemic|Stroke, Ischaemic|Stroke, Ischemic|Stroke, Wake-up|Wake up Stroke|Wake-up Stroke|Wake-up Strokes Cardiovascular disease|Nervous system disease Ischiopatellar dysplasia MESH:C535540 DO:DOID:0111382|OMIM:147891 MESH:D001848 C05.116.099/C535540 C05.116.099 Coxopodopatellar Syndrome|ICPPS|ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION|ISCHIOPATELLAR DYSPLASIA|PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS|Scott-Taor syndrome|Small patella syndrome|SPS Musculoskeletal disease Islet Cell Adenomatosis MESH:C563258 MESH:D007516 C04.557.470.035.100/C563258|C04.588.274.761.249/C563258|C04.588.322.475.249/C563258|C06.301.761.249/C563258|C06.689.667.249/C563258|C19.344.421.249/C563258 C04.557.470.035.100|C04.588.274.761.249|C04.588.322.475.249|C06.301.761.249|C06.689.667.249|C19.344.421.249 Cancer|Digestive system disease|Endocrine system disease Islet cell tumor syndrome MESH:C531777 MESH:D010190|MESH:D010673 C04.557.465.625.650.700.725/C531777|C04.557.580.625.650.700.725/C531777|C04.588.274.761/C531777|C04.588.322.475/C531777|C06.301.761/C531777|C06.689.667/C531777|C19.344.421/C531777 C04.557.465.625.650.700.725|C04.557.580.625.650.700.725|C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Bilateral pheochromocytoma and islet cell adenoma of the pancreas|Chromaffinoma|Familial islet cell tumors|Familial pheochromocytoma Cancer|Digestive system disease|Endocrine system disease Isobutyryl-CoA dehydrogenase deficiency MESH:C535541 OMIM:611283 MESH:D000592 C16.320.565.100/C535541|C18.452.648.100/C535541 C16.320.565.100|C18.452.648.100 ACAD8 DEFICIENCY|Acyl-CoA dehydrogenase family, member 8, deficiency of|IBDD|IBD DEFICIENCY|Isobutyryl-Coenzyme A Dehydrogenase Deficiency Genetic disease (inborn)|Metabolic disease Isochromosomes MESH:D018404 Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion. MESH:D002869 C23.550.210.430 C23.550.210 Isochromosome Pathology (process) Isodicentric Chromosome 15 Syndrome MESH:C580205 MESH:D025063 C16.131.260/C580205|C16.320.180/C580205 C16.131.260|C16.320.180 Duplication-Inversion 15q11|Idic(15)|Inv Dup(15)|Inverted Duplication 15|Isodicentric Chromosome 15|Non-Distal Tetrasomy 15q Congenital abnormality|Genetic disease (inborn) Isolated Growth Hormone Deficiency, Type IB MESH:C567564 OMIM:612781 MESH:D004392|MESH:D010900 C05.116.099.343/C567564|C10.228.140.617.738/C567564|C16.320.240/C567564|C19.297/C567564|C19.700/C567564 C05.116.099.343|C10.228.140.617.738|C16.320.240|C19.297|C19.700 Dwarfism Of Sindh|IGHD1B|IGHD IB Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Isolated Growth Hormone Deficiency, Type II MESH:C562704 DO:DOID:0060872|OMIM:173100 MESH:D004393 C05.116.099.343.445/C562704|C05.116.132.358/C562704|C10.228.140.617.738.300.300/C562704|C19.297.312/C562704|C19.700.482.311/C562704 C05.116.099.343.445|C05.116.132.358|C10.228.140.617.738.300.300|C19.297.312|C19.700.482.311 Growth Hormone Deficiency, Isolated, Autosomal Dominant|IGHD2|IGHD II|Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant Endocrine system disease|Musculoskeletal disease|Nervous system disease Isolated left subclavian artery MESH:C000721268 MESH:D054079 C14.240.850/C000721268|C16.131.240.850/C000721268 C14.240.850|C16.131.240.850 Isolation of the left subclavian artery Cardiovascular disease|Congenital abnormality Isolated Noncompaction of the Ventricular Myocardium MESH:D056830 Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen. MESH:D000015|MESH:D004695|MESH:D006330|MESH:D040181 C14.240.400.660|C14.280.238.281.500|C14.280.400.660|C16.131.077.477|C16.131.240.400.655|C16.320.322.370 C14.240.400|C14.280.238.281|C14.280.400|C16.131.077|C16.131.240.400|C16.320.322 Isolated Noncompaction of the Left Ventricular Myocardium, X-Linked|Isolated Non-compaction of the Ventricular Myocardium|Noncompaction of the Left Ventricular Myocardium, Autosomal Dominant Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) Isolated Systolic Hypertension MESH:D000092244 Hypertension with elevated systolic and normal diastolic blood pressure. It is the most common subtype in the elderly and is related to VASCULAR STIFFNESS and ATHEROSCLEROTIC PLAQUE buildup. MESH:D000075222 C14.907.489.165.500 C14.907.489.165 Hypertension, Isolated Systolic|Hypertension, Systolic|Isolated Systolic Hypertensions|Systolic Hypertension|Systolic Hypertension, Isolated|Systolic Hypertensions Cardiovascular disease Isosporiasis MESH:D021865 DO:DOID:2112 Infection with parasitic protozoa of the genus ISOSPORA, producing intestinal disease. It is caused by ingestion of oocysts and can produce tissue cysts. MESH:D003048 C01.610.752.250.410 C01.610.752.250 Infection, Isospora|Isospora Infection|Isospora Infections|Isosporiases Parasitic disease Isotretinoin embryopathy like syndrome MESH:C535542 MESH:D000014|MESH:D065817 C09.218.235/C535542|C16.131.042/C535542|C16.131.287/C535542 C09.218.235|C16.131.042|C16.131.287 Isotretinoin teratogen syndrome|Microtia aortic arch syndrome|Syndrome of microtia and aortic arch anomalies Congenital abnormality|Ear-nose-throat disease Jackson-Weiss syndrome MESH:C537559 DO:DOID:0111337|OMIM:123150 MESH:D003398|MESH:D005532 C05.116.099.370.894.232/C537559|C05.330.495/C537559|C05.660.207.240/C537559|C05.660.585.512.380/C537559|C05.660.906.364/C537559|C16.131.621.207.240/C537559|C16.131.621.585.512.500/C537559|C16.131.621.906.364/C537559 C05.116.099.370.894.232|C05.330.495|C05.660.207.240|C05.660.585.512.380|C05.660.906.364|C16.131.621.207.240|C16.131.621.585.512.500|C16.131.621.906.364 Acrocephalosyndactyly Jackson Weiss type|Craniosynostosis, midfacial hypoplasia, and foot abnormalities|Enlarged great toes and craniofacial abnormalities|JWS Congenital abnormality|Musculoskeletal disease Jacobsen Distal 11q Deletion Syndrome MESH:D054868 DO:DOID:0111723|OMIM:147791|OMIM:188025 A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia. MESH:D013921|MESH:D025063 C15.378.140.855.440|C16.131.260.440|C16.320.180.440 C15.378.140.855|C16.131.260|C16.320.180 11q23 Deletion Disorder|11q Deletion Disorder|11q Deletion Syndrome|11q- Deletion Syndrome|11q- Deletion Syndromes|11q Terminal Deletion Disorder|CHROMOSOME 11q23 DELETION SYNDROME|Chromosome 11q Deletion Syndrome|Deletion Disorder, 11q|Deletion Disorder, 11q23|Deletion Syndrome, 11q-|Jacobsen Syndrome|Jacobsen Thrombocytopenia|JBS|Paris Trousseau Syndrome|Paris-Trousseau Syndrome|Paris Trousseau Thrombocytopenia|Paris-Trousseau Thrombocytopenia|Paris-Trousseau Type Thrombocytopenia|Paris-Trousseau Type Thrombocytopenias|Partial 11q Monosomy Syndrome|TCPT|Thrombocytopenia, Jacobsen|Thrombocytopenia, Paris-Trousseau|Thrombocytopenia, Paris Trousseau Type|Thrombocytopenia, Paris-Trousseau Type|Type Thrombocytopenia, Paris-Trousseau Blood disease|Congenital abnormality|Genetic disease (inborn) Jacobs syndrome MESH:C537560 DO:DOID:0090127|OMIM:208250 MESH:D001177|MESH:D006228|MESH:D013585|MESH:D060905 C05.116.214.500.500/C537560|C05.390.408/C537560|C05.550.186/C537560|C05.550.870/C537560|C05.660.585.988.425/C537560|C16.131.621.585.988.500/C537560|C23.300.970.249.500/C537560 C05.116.214.500.500|C05.390.408|C05.550.186|C05.550.870|C05.660.585.988.425|C16.131.621.585.988.500|C23.300.970.249.500 Arthropathy camptodactyly syndrome|Arthropathy-Camptodactyly Syndrome|CACP|Camptodactyly-arthropathy-coxa vara-pericarditis syndrome|Camptodactyly arthropathy pericarditis syndrome|Camptodactyly-Arthropathy-Pericarditis Syndrome|CAP SYNDROME|Congenital familial hypertrophic synovitis|Fibrosing serositis, familial|Hypertrophic Synovitis, Congenital Familial|JACOBS SYNDROME|PAC SYNDROME|Pericarditis arthropathy camptodactyly syndrome|Pericarditis-Arthropathy-Camptodactyly Syndrome Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition) Jaffer Beighton syndrome MESH:C537561 MESH:D007593|MESH:D013168|MESH:D054119 C05.116.900.938.500.500/C537561|C05.550.521/C537561|C05.660.585.174/C537561|C16.131.621.585.174/C537561 C05.116.900.938.500.500|C05.550.521|C05.660.585.174|C16.131.621.585.174 Arachnodactyly, joint laxity, and spondylolisthesis Congenital abnormality|Musculoskeletal disease Jagell Holmgren Hofer syndrome MESH:C537364 MESH:D000505|MESH:D004483|MESH:D007057|MESH:D008607|MESH:D009056 C07.465.525/C537364|C07.650.525/C537364|C10.597.606.360/C537364|C11.338.362/C537364|C16.131.831.512/C537364|C16.131.850.525/C537364|C16.614.492/C537364|C17.800.329.937.122/C537364|C17.800.428.333/C537364|C17.800.804.512/C537364|C23.300.035/C537364|C23.888.592.604.646/C537364|F03.625.539/C537364 C07.465.525|C07.650.525|C10.597.606.360|C11.338.362|C16.131.831.512|C16.131.850.525|C16.614.492|C17.800.329.937.122|C17.800.428.333|C17.800.804.512|C23.300.035|C23.888.592.604.646|F03.625.539 Ichthyosis alopecia eclabion ectropion mental retardation|Ichthyosis With Alopecia, Eclabion, Ectropion, And Mental Retardation Congenital abnormality|Eye disease|Infant-newborn disease|Mental disorder|Mouth disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Jalili syndrome MESH:C000596385 DO:DOID:0111404 MESH:D000071700|MESH:D000567 C07.650.800.295.250/C000596385|C07.793.700.295.250/C000596385|C11.270.152/C000596385|C11.768.585.658.250/C000596385|C16.131.850.800.295.250/C000596385|C16.320.290.152/C000596385 C07.650.800.295.250|C07.793.700.295.250|C11.270.152|C11.768.585.658.250|C16.131.850.800.295.250|C16.320.290.152 Cone-Rod Dystrophy And Amelogenesis Imperfecta Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease Jamaican vomiting sickness MESH:C537562 MESH:D010939 C25.723.756/C537562 C25.723.756 Ackee poisoning Jankovic Rivera syndrome MESH:C537563 DO:DOID:0111527 MESH:D009207|MESH:D049310 C05.651.534.500.074/C537563|C10.597.350.500/C537563|C10.668.491.175.500.074/C537563|C16.320.577.074/C537563|C23.888.592.350.500/C537563 C05.651.534.500.074|C10.597.350.500|C10.668.491.175.500.074|C16.320.577.074|C23.888.592.350.500 Hereditary myoclonus and progressive distal muscular atrophy|Myoclonus, Hereditary, with Progressive Distal Muscular Atrophy Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms JANSEN-DE VRIES SYNDROME OMIM:617450 MESH:D005767|MESH:D008607|MESH:D010146|MESH:D011596 C06.405/617450|C10.597.606.360/617450|C10.597.606.881/617450|C23.888.592.604.646/617450|C23.888.592.604.882/617450|C23.888.592.612/617450|F03.625.539/617450 C06.405|C10.597.606.360|C10.597.606.881|C23.888.592.604.646|C23.888.592.604.882|C23.888.592.612|F03.625.539 IDDGIP, FORMERLY|INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD, FORMERLY|JDVS Digestive system disease|Mental disorder|Nervous system disease|Signs and symptoms Jansen type metaphyseal chondrodysplasia MESH:C537564 OMIM:156400 MESH:D010009 C05.116.099.708/C537564|C16.320.728/C537564 C05.116.099.708|C16.320.728 MCDJ|Metaphyseal Chondrodysplasia, Jansen Type|Metaphyseal chondrodysplasia Murk Jansen type|Metaphyseal Chondrodysplasia, Murk Jansen Type|Murk Jansen type metaphyseal chondrodysplasia Genetic disease (inborn)|Musculoskeletal disease Jarcho-Levin syndrome MESH:C537565 MESH:D000015|MESH:D006548 C16.131.077/C537565|C23.300.707.960.500/C537565 C16.131.077|C23.300.707.960.500 Costovertebral dysplasia|SCDO1 Spondylocostal dysostosis 1|Spondylocostal dysostosis|Spondylocostal Dysostosis 1, Autosomal Recessive|Spondylothoracic Dysostosis|Spondylothoracic Dysplasia Congenital abnormality|Pathology (anatomical condition) Jaundice MESH:D007565 A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction. MESH:D006932|MESH:D012877 C23.550.429.500|C23.888.885.375 C23.550.429|C23.888.885 Hemolytic Jaundice|Hemolytic Jaundices|Icterus|Jaundice, Hemolytic|Jaundices, Hemolytic Pathology (process)|Signs and symptoms Jaundice, Chronic Idiopathic MESH:D007566 DO:DOID:12308|OMIM:237500 A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver cells. There is a functional defect in biliary excretion of bilirubin, cholephilic dyes, and porphyrins. Affected persons may be asymptomatic or have vague constitutional or gastrointestinal symptoms. The liver may be slightly enlarged, and oral and intravenous cholangiography fails to visualize the biliary tract. MESH:D002908|MESH:D006933|MESH:D007567 C16.320.565.300.764|C16.614.451.500.250|C18.452.648.300.764|C23.550.291.500.479 C16.320.565.300|C16.614.451.500|C18.452.648.300|C23.550.291.500 Chronic Idiopathic Jaundice|Chronic Idiopathic Jaundices|DJS|Dubin Johnson Syndrome|Dubin-Johnson Syndrome|HBLRDJ|Hyperbilirubinemia 2|Hyperbilirubinemia 2s|HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE|Hyperbilirubinemia II|Hyperbilirubinemia IIs|Idiopathic Jaundice, Chronic|Idiopathic Jaundices, Chronic|Jaundices, Chronic Idiopathic|Syndrome, Dubin-Johnson Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Pathology (process) Jaundice, Familial Obstructive, of Infancy MESH:C564118 MESH:D041781 C23.550.429.500.755/C564118|C23.888.885.375.500/C564118 C23.550.429.500.755|C23.888.885.375.500 Pathology (process)|Signs and symptoms Jaundice, Neonatal MESH:D007567 DO:DOID:2383 Yellow discoloration of the SKIN; MUCOUS MEMBRANE; and SCLERA in the NEWBORN. It is a sign of NEONATAL HYPERBILIRUBINEMIA. Most cases are transient self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) occurring in the first week of life, but some can be a sign of pathological disorders, particularly LIVER DISEASES. MESH:D051556 C16.614.451.500|C23.550.429.249.500 C16.614.451|C23.550.429.249 Icterus Gravis Neonatorum|Jaundice, Physiological Neonatal|Neonatal Jaundice|Neonatal Jaundice, Physiological|Physiological Neonatal Jaundice|Severe Jaundice in Neonate|Severe Jaundice in Newborn Infant-newborn disease|Pathology (process) Jaundice, Obstructive MESH:D041781 DO:DOID:13603 Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS. MESH:D007565 C23.550.429.500.755|C23.888.885.375.500 C23.550.429.500|C23.888.885.375 Cholestatic Jaundice|Jaundice, Cholestatic|Jaundice, Mechanical|Mechanical Jaundice|Obstructive Jaundice Pathology (process)|Signs and symptoms Jaw Abnormalities MESH:D007569 Congenital absence of or defects in structures of the jaw. MESH:D007571|MESH:D019767 C05.500.460|C05.660.207.540.460|C07.320.440|C07.650.500.460|C16.131.621.207.540.460|C16.131.850.500.460 C05.500|C05.660.207.540|C07.320|C07.650.500|C16.131.621.207.540|C16.131.850.500 Abnormalities, Jaw|Abnormality, Jaw|Jaw Abnormality Congenital abnormality|Mouth disease|Musculoskeletal disease Jaw Cysts MESH:D007570 Saccular lesions lined with epithelium and contained within pathologically formed cavities in the jaw; also nonepithelial cysts (pseudocysts) as they apply to the jaw, e.g., traumatic or solitary cyst, static bone cavity, and aneurysmal bone cyst. True jaw cysts are classified as odontogenic or nonodontogenic. MESH:D001845|MESH:D007571 C04.182.089.530|C05.500.470|C07.320.450 C04.182.089|C05.500|C07.320 Cyst, Jaw|Cysts, Jaw|Jaw Cyst Cancer|Mouth disease|Musculoskeletal disease Jaw Diseases MESH:D007571 Diseases involving the JAW. MESH:D009057|MESH:D009140 C05.500|C07.320 C05|C07 Disease, Jaw|Diseases, Jaw|Jaw Disease Mouth disease|Musculoskeletal disease Jaw, Edentulous MESH:D007575 The total absence of teeth from either the mandible or the maxilla, but not both. Total absence of teeth from both is MOUTH, EDENTULOUS. Partial absence of teeth in either is JAW, EDENTULOUS, PARTIALLY. MESH:D007571|MESH:D009066 C05.500.480|C07.320.550|C07.465.550.425|C07.793.597.425 C05.500|C07.320|C07.465.550|C07.793.597 Edentulous Jaw|Edentulous Jaws|Jaws, Edentulous Mouth disease|Musculoskeletal disease Jaw, Edentulous, Partially MESH:D007576 Absence of teeth from a portion of the mandible and/or maxilla. MESH:D007575 C05.500.480.450|C07.320.550.450|C07.465.550.425.450|C07.793.597.425.450 C05.500.480|C07.320.550|C07.465.550.425|C07.793.597.425 Mouth disease|Musculoskeletal disease Jaw Fractures MESH:D007572 Fractures of the upper or lower jaw. MESH:D008446|MESH:D012887 C10.900.300.284.500.400|C26.404.750.467|C26.915.300.425.500.400 C10.900.300.284.500|C26.404.750|C26.915.300.425.500 Fractured Bone of Jaw|Fracture, Jaw|Jaw Fracture|Jaw Fractured Bone|Jaw Fractured Bones Nervous system disease|Wounds and injuries Jaw Neoplasms MESH:D007573 DO:DOID:1862 Cancers or tumors of the MAXILLA or MANDIBLE unspecified. For neoplasms of the maxilla, MAXILLARY NEOPLASMS is available and of the mandible, MANDIBULAR NEOPLASMS is available. MESH:D007571|MESH:D012888 C04.588.149.721.450|C05.116.231.754.450|C05.500.499|C07.320.515 C04.588.149.721|C05.116.231.754|C05.500|C07.320 Cancer, Jaw|Cancer of Jaw|Cancer of the Jaw|Cancers, Jaw|Jaw Cancer|Jaw Cancers|Jaw Neoplasm|Neoplasm, Jaw|Neoplasms, Jaw Cancer|Mouth disease|Musculoskeletal disease Jejunal Atresia with Microcephaly and Ocular Anomalies MESH:C565460 OMIM:243605 MESH:D005124|MESH:D007409|MESH:D008831 C05.660.207.620/C565460|C06.198.719/C565460|C06.405.469.445/C565460|C10.500.507.400.500/C565460|C11.250/C565460|C16.131.314.466/C565460|C16.131.384/C565460|C16.131.621.207.620/C565460|C16.131.666.507.400.500/C565460 C05.660.207.620|C06.198.719|C06.405.469.445|C10.500.507.400.500|C11.250|C16.131.314.466|C16.131.384|C16.131.621.207.620|C16.131.666.507.400.500 Apple Peel Syndrome with Microcephaly and Ocular Anomalies|CILD31, FORMERLY|CILIARY DYSKINESIA, PRIMARY, 31, FORMERLY|JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES|Stromme Syndrome|STROMS Congenital abnormality|Digestive system disease|Eye disease|Musculoskeletal disease|Nervous system disease Jejunal atresia with renal adysplasia MESH:C537567 MESH:D007409|MESH:D007674 C06.198.719/C537567|C06.405.469.445/C537567|C12.050.351.968.419/C537567|C12.200.777.419/C537567|C12.950.419/C537567|C16.131.314.466/C537567 C06.198.719|C06.405.469.445|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.314.466 Congenital abnormality|Digestive system disease|Urogenital disease (female)|Urogenital disease (male) Jejunal Diseases MESH:D007579 Pathological development in the JEJUNUM region of the SMALL INTESTINE. MESH:D007410 C06.405.469.600 C06.405.469 Disease, Jejunal|Diseases, Jejunal|Jejunal Disease Digestive system disease Jejunal Neoplasms MESH:D007580 DO:DOID:13499|DO:DOID:3218 Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL). MESH:D007414|MESH:D007579 C04.588.274.476.411.523|C06.301.371.411.523|C06.405.249.411.523|C06.405.469.491.523|C06.405.469.600.523 C04.588.274.476.411|C06.301.371.411|C06.405.249.411|C06.405.469.491|C06.405.469.600 Cancer, Jejunal|Cancer of Jejunum|Cancer of the Jejunum|Cancers, Jejunal|Jejunal Cancer|Jejunal Cancers|Jejunal Neoplasm|Jejunum Cancer|Jejunum Cancers|Neoplasm, Jejunal|Neoplasms, Jejunal Cancer|Digestive system disease Jensen syndrome MESH:C537568 MESH:D003704|MESH:D006313|MESH:D009896 C09.218.458.341.887.432/C537568|C09.218.807.186.432/C537568|C10.228.140.068.432/C537568|C10.228.140.380/C537568|C10.292.700.225/C537568|C10.597.751.418.341.887.432/C537568|C11.640.451/C537568|C23.888.592.763.393.341.887.432/C537568|F03.615.400/C537568 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.228.140.380|C10.292.700.225|C10.597.751.418.341.887.432|C11.640.451|C23.888.592.763.393.341.887.432|F03.615.400 Nerve deafness optic nerve atrophy, and dementia|Opticoacoustic Nerve Atrophy With Dementia|Opticoacustic nerve atrophy with dementia|Syndrome of opticoacoustic nerve atrophy with dementia Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Jequier Kozlowski skeletal dysplasia MESH:C537569 MESH:D000015|MESH:D001176|MESH:D010009|MESH:D019465 C05.116.099.708/C537569|C05.550.150/C537569|C05.651.102/C537569|C05.660.077/C537569|C05.660.207/C537569|C16.131.077/C537569|C16.131.621.077/C537569|C16.131.621.207/C537569|C16.320.728/C537569 C05.116.099.708|C05.550.150|C05.651.102|C05.660.077|C05.660.207|C16.131.077|C16.131.621.077|C16.131.621.207|C16.320.728 Cloverleaf skull and bone dysplasias|Facies unusual arthrogryposis advanced skeletal maturation|Round face, short small nose, advanced bone age, enlarged diaphysis Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Jervell And Lange-Nielsen Syndrome 2 MESH:C567343 OMIM:612347 MESH:D029593 C14.280.067.565.440/C567343|C14.280.123.625.440/C567343|C16.131.240.400.715.440/C567343 C14.280.067.565.440|C14.280.123.625.440|C16.131.240.400.715.440 Jlns2 Cardiovascular disease|Congenital abnormality Jervell-Lange Nielsen Syndrome MESH:D029593 DO:DOID:2842|OMIM:220400 A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). MESH:D008133 C14.280.067.565.440|C14.280.123.625.440|C16.131.240.400.715.440 C14.280.067.565|C14.280.123.625|C16.131.240.400.715 Cardio Auditory Syncope Syndrome|Cardio-Auditory-Syncope Syndrome|Cardio-Auditory-Syncope Syndromes|Cardioauditory Syndrome of Jervell and Lange Nielsen|Cardioauditory Syndrome of Jervell and Lange-Nielsen|Deafness, Congenital, and Functional Heart Disease|Jervell and Lange Nielsen Syndrome|Jervell and Lange-Nielsen Syndrome|Jervell And Lange Nielsen Syndrome 1|Jervell And Lange-Nielsen Syndrome 1|Jervell Lange Nielsen Syndrome|JLNS1|Prolonged QT Interval in EKG and Sudden Death|Surdo Cardiac Syndrome|Surdo-Cardiac Syndrome|Surdo-Cardiac Syndromes|Syndrome, Cardio-Auditory-Syncope|Syndrome, Jervell-Lange Nielsen|Syndromes, Cardio-Auditory-Syncope|Syndrome, Surdo-Cardiac Cardiovascular disease|Congenital abnormality Jet Lag Syndrome MESH:D020179 A chronobiologic disorder resulting from rapid travel across a number of time zones, characterized by insomnia or hypersomnolence, fatigue, behavioral symptoms, headaches, and gastrointestinal disturbances. (From Cooper, Sleep, 1994, pp593-8) MESH:D000076082|MESH:D020178|MESH:D021081 C10.281.440|C10.886.425.200.500|C23.888.914.500|F03.870.400.200.500 C10.281|C10.886.425.200|C23.888.914|F03.870.400.200 Jet Lag|Jet Lags|Jet Lag Syndromes|Lag, Jet|Lags, Jet|Time Zone Change Syndrome|Time Zone Syndrome|Time Zone Syndromes Mental disorder|Nervous system disease|Signs and symptoms Jeune syndrome MESH:C537571 OMIM:208500 MESH:D004613 C05.116.099.708.327/C537571|C16.131.077.350.398/C537571|C16.131.831.350.398/C537571|C16.320.850.250.398/C537571|C17.800.804.350.398/C537571|C17.800.827.250.398/C537571 C05.116.099.708.327|C16.131.077.350.398|C16.131.831.350.398|C16.320.850.250.398|C17.800.804.350.398|C17.800.827.250.398 Asphyxiating Thoracic Chondrodystrophy|Asphyxiating Thoracic Dysplasia|Asphyxiating thoracic dystrophy|Asphyxiating Thoracic Dystrophy 1|Asphyxiating Thoracic Dystrophy (ATD)|ATD1|Chondroectodermal dysplasia-like syndrome|Infantile thoracic dystrophy|Jeune's syndrome|JEUNE SYNDROME|Jeune Thoracic Dysplasia|Jeune Thoracic Dystrophy|SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY|SRTD1|Thoracic Asphyxiant Dystrophy|Thoracic pelvic phalangeal dystrophy|Thoracic-Pelvic-Phalangeal Dystrophy Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Jeune syndrome situs inversus MESH:C537572 MESH:D004613|MESH:D012857 C05.116.099.708.327/C537572|C16.131.077.350.398/C537572|C16.131.810/C537572|C16.131.831.350.398/C537572|C16.320.850.250.398/C537572|C17.800.804.350.398/C537572|C17.800.827.250.398/C537572 C05.116.099.708.327|C16.131.077.350.398|C16.131.810|C16.131.831.350.398|C16.320.850.250.398|C17.800.804.350.398|C17.800.827.250.398 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Job Syndrome MESH:D007589 DO:DOID:3261|OMIM:243700 Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share. MESH:D000081207|MESH:D010585 C15.378.553.774.600|C16.320.798.688|C20.673.774.600|C20.673.795.688 C15.378.553.774|C16.320.798|C20.673.774|C20.673.795 Autosomal Dominant HIES|Autosomal Dominant HIESs|Autosomal Recessive HIES|Autosomal Recessive HIESs|Buckley Syndrome|Buckley Syndromes|HIES2|HIES, Autosomal Dominant|HIES, Autosomal Recessive|HIESs, Autosomal Dominant|HIESs, Autosomal Recessive|HIE Syndrome|HIE Syndromes|HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE|Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive|Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive|Hyper IgE Syndrome|Hyper-IgE Syndrome|HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS|Hyper IgE Syndrome, Autosomal Dominant|Hyper-IgE Syndrome, Autosomal Dominant|Hyper IgE Syndrome, Autosomal Recessive|Hyper-IgE Syndrome, Autosomal Recessive|Hyper-IgE Syndromes|Hyperimmunoglobulinemia E Syndrome|Hyperimmunoglobulinemia E Syndromes|Hyperimmunoglobulin E Recurrent Infection Syndrome|Hyperimmunoglobulin E, Recurrent Infection Syndrome|Hyperimmunoglobulin E-Recurrent Infection Syndrome|Hyper Immunoglobulin E Syndrome, Autosomal Dominant|Hyper-Immunoglobulin E Syndrome, Autosomal Dominant|Hyper Immunoglobulin E Syndrome, Autosomal Recessive|Hyper-Immunoglobulin E Syndrome, Autosomal Recessive|Job Buckley Syndrome|Job-Buckley Syndrome|Job-Buckley Syndromes|Job's Syndrome|Jobs Syndrome|Job Syndromes|Syndrome, Job|Syndromes, Job Blood disease|Genetic disease (inborn)|Immune system disease Johanson Blizzard syndrome MESH:C535880 DO:DOID:14694|OMIM:243800 MESH:D001006|MESH:D004476|MESH:D006130|MESH:D006319|MESH:D007037|MESH:D008607|MESH:D010182 C06.198.050/C535880|C06.689/C535880|C09.218.458.341.887/C535880|C10.597.606.360/C535880|C10.597.751.418.341.887/C535880|C16.131.077.350/C535880|C16.131.314.094/C535880|C16.131.831.350/C535880|C16.320.850.250/C535880|C17.800.804.350/C535880|C17.800.827.250/C535880|C19.874.482/C535880|C23.550.393/C535880|C23.888.592.604.646/C535880|C23.888.592.763.393.341.887/C535880|F03.625.539/C535880 C06.198.050|C06.689|C09.218.458.341.887|C10.597.606.360|C10.597.751.418.341.887|C16.131.077.350|C16.131.314.094|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C19.874.482|C23.550.393|C23.888.592.604.646|C23.888.592.763.393.341.887|F03.625.539 Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency|JBS|Johanson-Blizzard Syndrome|Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia|Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, and Congenital Deafness|Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Congenital Deafness Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Johnson Munson syndrome MESH:C535881 MESH:D004480|MESH:D005532|MESH:D006228 C05.330.495/C535881|C05.390.408/C535881|C05.660.585.350/C535881|C05.660.585.512.380/C535881|C05.660.585.988.425/C535881|C16.131.621.585.350/C535881|C16.131.621.585.512.500/C535881|C16.131.621.585.988.500/C535881 C05.330.495|C05.390.408|C05.660.585.350|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.350|C16.131.621.585.512.500|C16.131.621.585.988.500 Aphalangy of the hands and feet, hemivertebrae, and visceral malformations|Aphalangy with Hemivertebrae Congenital abnormality|Musculoskeletal disease Johnson neuroectodermal syndrome MESH:C535882 MESH:D000505|MESH:D000857|MESH:D003638|MESH:D007006|MESH:D020752 C09.218.458.341.186/C535882|C10.562/C535882|C10.597.751.418.341.186/C535882|C10.597.751.600/C535882|C16.131.077.350.712/C535882|C16.131.831.350.712/C535882|C16.320.850.250.712/C535882|C17.800.329.937.122/C535882|C17.800.804.350.712/C535882|C17.800.827.250.712/C535882|C19.391.482/C535882|C23.300.035/C535882|C23.888.592.763.393.341.186/C535882|C23.888.592.763.550/C535882 C09.218.458.341.186|C10.562|C10.597.751.418.341.186|C10.597.751.600|C16.131.077.350.712|C16.131.831.350.712|C16.320.850.250.712|C17.800.329.937.122|C17.800.804.350.712|C17.800.827.250.712|C19.391.482|C23.300.035|C23.888.592.763.393.341.186|C23.888.592.763.550 AADH syndrome|Alopecia anosmia deafness hypogonadism syndrome|Alopecia-Anosmia-Deafness-Hypogonadism Syndrome|Johnson-Mcmillin syndrome Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Johnston Aarons Schelley syndrome MESH:C535883 MESH:D001176|MESH:D007642 C05.550.150/C535883|C05.651.102/C535883|C05.660.077/C535883|C16.131.621.077/C535883|C17.800.428/C535883 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077|C17.800.428 Arthrogryposis with Hyperkeratosis|Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns Congenital abnormality|Musculoskeletal disease|Skin disease Joint Deformities, Acquired MESH:D016916 Deformities acquired after birth as the result of injury or disease. The joint deformity is often associated with rheumatoid arthritis and leprosy. MESH:D007592 C05.550.515 C05.550 Acquired Joint Deformities|Acquired Joint Deformity|Deformities, Acquired Joint|Deformity, Acquired Joint|Joint Deformity, Acquired Musculoskeletal disease Joint Diseases MESH:D007592 DO:DOID:381 Diseases involving the JOINTS. MESH:D009140 C05.550 C05 Arthropathies|Arthropathy|Joint Disease Musculoskeletal disease Joint Dislocations MESH:D004204 Displacement of bones from their normal positions at a joint. MESH:D007592|MESH:D014947 C05.550.518|C26.289 C05.550|C26 Dislocation, Joint|Dislocations, Joint|Inferior Dislocation|Inferior Dislocations|Joint Dislocation|Joint Subluxation|Joint Subluxations|Luxatio Erecta|Subluxation, Joint|Subluxations, Joint Musculoskeletal disease|Wounds and injuries Joint Instability MESH:D007593 Lack of stability of a joint or joint prosthesis. MESH:D007592 C05.550.521 C05.550 Hypermobilities, Joint|Hypermobility, Joint|Instabilities, Joint|Instability, Joint|Joint Hypermobilities|Joint Hypermobility|Joint Instabilities|Joint Laxities|Joint Laxity|Laxities, Joint|Laxity, Joint Musculoskeletal disease Joint laxity, familial MESH:C535884 MESH:D007593 C05.550.521/C535884 C05.550.521 Articular hypermobility syndrome|Familial joint instability syndrome|Joint instability syndrome Musculoskeletal disease Joint Loose Bodies MESH:D007594 Fibrous, bony, cartilaginous and osteocartilaginous fragments in a synovial joint. Major causes are osteochondritis dissecans, synovial chondromatosis, osteophytes, fractured articular surfaces and damaged menisci. MESH:D007592 C05.550.535 C05.550 Joint Loose Body|Loose Bodies, Joint|Loose Body, Joint Musculoskeletal disease Jones Hersh Yusk syndrome MESH:C535885 MESH:D004476|MESH:D019465 C05.660.207/C535885|C16.131.077.350/C535885|C16.131.621.207/C535885|C16.131.831.350/C535885|C16.320.850.250/C535885|C17.800.804.350/C535885|C17.800.827.250/C535885 C05.660.207|C16.131.077.350|C16.131.621.207|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Aplasia cutis cleft palate epidermolysis|Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly|Ptosis, ectropion, thin skin, beaked nose Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Jones syndrome MESH:C535886 MESH:D003638|MESH:D005351 C07.465.525.304/C535886|C07.465.714.258.428.200/C535886|C07.650.525.304/C535886|C09.218.458.341.186/C535886|C10.597.751.418.341.186/C535886|C16.131.850.525.304/C535886|C23.888.592.763.393.341.186/C535886 C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C09.218.458.341.186|C10.597.751.418.341.186|C16.131.850.525.304|C23.888.592.763.393.341.186 Fibromatosis gingival progressive deafness|Fibromatosis, Gingival, With Progressive Deafness|Gingival fibromatosis with progressive deafness|Gingival fibromatosis with sensorineural hearing loss Congenital abnormality|Ear-nose-throat disease|Mouth disease|Nervous system disease|Signs and symptoms Jorgenson Lenz syndrome MESH:C536292 MESH:D006130|MESH:D008831|MESH:D011378|MESH:D013580|MESH:D016569 C05.116.099.370.894/C536292|C05.500.460.655/C536292|C05.500.607.655/C536292|C05.660.207.540.460.655/C536292|C05.660.207.620/C536292|C05.660.906/C536292|C07.320.440.655/C536292|C07.320.610.655/C536292|C07.650.500.460.655/C536292|C10.500.507.400.500/C536292|C11.250.090/C536292|C11.338.190/C536292|C16.131.384.190/C536292|C16.131.621.207.540.460.655/C536292|C16.131.621.207.620/C536292|C16.131.621.906/C536292|C16.131.666.507.400.500/C536292|C16.131.850.500.460.655/C536292|C23.550.393/C536292 C05.116.099.370.894|C05.500.460.655|C05.500.607.655|C05.660.207.540.460.655|C05.660.207.620|C05.660.906|C07.320.440.655|C07.320.610.655|C07.650.500.460.655|C10.500.507.400.500|C11.250.090|C11.338.190|C16.131.384.190|C16.131.621.207.540.460.655|C16.131.621.207.620|C16.131.621.906|C16.131.666.507.400.500|C16.131.850.500.460.655|C23.550.393 Blepharophimosis radioulnar synostosis|Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis|Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature-dwarfism Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process) Joubert Syndrome 10 MESH:C567582 DO:DOID:0110981|OMIM:300804 MESH:D002526|MESH:D009123|MESH:D040181 C10.228.140.252/C567582|C10.597.613.575/C567582|C16.320.322/C567582|C23.888.592.608.575/C567582 C10.228.140.252|C10.597.613.575|C16.320.322|C23.888.592.608.575 JBTS10 Genetic disease (inborn)|Nervous system disease|Signs and symptoms Joubert syndrome 2 MESH:C536294 DO:DOID:0110988|OMIM:608091 MESH:D002526|MESH:D005124|MESH:D052177 C10.228.140.252/C536294|C11.250/C536294|C12.050.351.968.419.403/C536294|C12.200.777.419.403/C536294|C12.950.419.403/C536294|C16.131.384/C536294 C10.228.140.252|C11.250|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.384 Cerebellooculorenal syndrome 2|CORS2|JBTS2 Congenital abnormality|Eye disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Joubert syndrome 3 MESH:C536295 DO:DOID:0110998|OMIM:608629 MESH:D002526|MESH:D009123|MESH:D015835 C10.228.140.252/C536295|C10.228.758/C536295|C10.292.562/C536295|C10.597.613.575/C536295|C11.590/C536295|C23.888.592.608.575/C536295 C10.228.140.252|C10.228.758|C10.292.562|C10.597.613.575|C11.590|C23.888.592.608.575 JBTS3 Eye disease|Nervous system disease|Signs and symptoms Joubert syndrome 4 MESH:C536296 DO:DOID:0110999|OMIM:609583 MESH:D002526|MESH:D012162|MESH:D052177 C10.228.140.252/C536296|C11.270.612/C536296|C11.768.585/C536296|C12.050.351.968.419.403/C536296|C12.200.777.419.403/C536296|C12.950.419.403/C536296 C10.228.140.252|C11.270.612|C11.768.585|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 JBTS4 Eye disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Joubert syndrome 5 MESH:C537688 DO:DOID:0111000|OMIM:610188 MESH:D002526|MESH:D007674|MESH:D009123|MESH:D015835 C10.228.140.252/C537688|C10.228.758/C537688|C10.292.562/C537688|C10.597.613.575/C537688|C11.590/C537688|C12.050.351.968.419/C537688|C12.200.777.419/C537688|C12.950.419/C537688|C23.888.592.608.575/C537688 C10.228.140.252|C10.228.758|C10.292.562|C10.597.613.575|C11.590|C12.050.351.968.419|C12.200.777.419|C12.950.419|C23.888.592.608.575 JBTS5 Eye disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Joubert syndrome 6 MESH:C537689 DO:DOID:0111001|OMIM:610688 MESH:D002526|MESH:D007674|MESH:D015835 C10.228.140.252/C537689|C10.228.758/C537689|C10.292.562/C537689|C11.590/C537689|C12.050.351.968.419/C537689|C12.200.777.419/C537689|C12.950.419/C537689 C10.228.140.252|C10.228.758|C10.292.562|C11.590|C12.050.351.968.419|C12.200.777.419|C12.950.419 JBTS6 Eye disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Joubert Syndrome 7 MESH:C566916 DO:DOID:0111002|OMIM:611560 MESH:D001259|MESH:D002526|MESH:D008607|MESH:D015835|MESH:D052177 C10.228.140.252/C566916|C10.228.758/C566916|C10.292.562/C566916|C10.597.350.090/C566916|C10.597.606.360/C566916|C11.590/C566916|C12.050.351.968.419.403/C566916|C12.200.777.419.403/C566916|C12.950.419.403/C566916|C23.888.592.350.090/C566916|C23.888.592.604.646/C566916|F03.625.539/C566916 C10.228.140.252|C10.228.758|C10.292.562|C10.597.350.090|C10.597.606.360|C11.590|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C23.888.592.350.090|C23.888.592.604.646|F03.625.539 JBTS7 Eye disease|Mental disorder|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Joubert Syndrome 8 MESH:C567358 DO:DOID:0111003|OMIM:612291 MESH:D002526|MESH:D015785 C10.228.140.252/C567358|C11.270/C567358|C16.320.290/C567358 C10.228.140.252|C11.270|C16.320.290 JBTS8 Eye disease|Genetic disease (inborn)|Nervous system disease Joubert Syndrome 9 MESH:C567364 DO:DOID:0111004|OMIM:612285 MESH:D002526|MESH:D005124|MESH:D007674|MESH:D008607 C10.228.140.252/C567364|C10.597.606.360/C567364|C11.250/C567364|C12.050.351.968.419/C567364|C12.200.777.419/C567364|C12.950.419/C567364|C16.131.384/C567364|C23.888.592.604.646/C567364|F03.625.539/C567364 C10.228.140.252|C10.597.606.360|C11.250|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.384|C23.888.592.604.646|F03.625.539 JBTS9|JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED Congenital abnormality|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Juberg Hayward syndrome MESH:C537690 MESH:D009958 C05.116.099.370.652/C537690|C05.660.207.700/C537690|C16.131.077.676/C537690|C16.131.260.830.670/C537690|C16.131.621.207.700/C537690|C16.320.180.830.670/C537690|C16.320.714/C537690 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 Cleft Lip-Palate With Abnormal Thumbs And Microcephaly|Juberg-Hayward Syndrome|OFDS VIII|Oral-Facial-Digital Syndrome, Type VIII|Oral-Facial-Digital Syndrome with Hypoplastic Epiglottis|Orocraniodigital syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Judge Misch Wright syndrome MESH:C537692 MESH:D003317|MESH:D005148|MESH:D007645|MESH:D009260 C11.204.236/C537692|C11.270.162/C537692|C16.320.290.162/C537692|C16.320.850.475/C537692|C17.800.271/C537692|C17.800.428.435/C537692|C17.800.529/C537692|C17.800.827.475/C537692 C11.204.236|C11.270.162|C16.320.290.162|C16.320.850.475|C17.800.271|C17.800.428.435|C17.800.529|C17.800.827.475 Dry skin, photophobia hyperkeratosis, abnormal fingernails|Keratodermia palmoplantar periorificial|Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia Eye disease|Genetic disease (inborn)|Skin disease Jugular foramen syndrome MESH:C000630779 MESH:D003389 C10.292/C000630779 C10.292 Nervous system disease Jung Wolff Back Stahl syndrome MESH:C537694 MESH:D000015|MESH:D007037|MESH:D014135 C08.907.663/C537694|C16.131.077/C537694|C19.874.482/C537694 C08.907.663|C16.131.077|C19.874.482 Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis Congenital abnormality|Endocrine system disease|Respiratory tract disease Juvenile giant cell arteritis MESH:C538533 MESH:D013700 C10.114.875.700/C538533|C10.228.140.300.850.500/C538533|C14.907.253.946.700/C538533|C14.907.940.090.530/C538533|C14.907.940.907.700/C538533|C17.800.862.252/C538533|C20.111.258.962.800/C538533 C10.114.875.700|C10.228.140.300.850.500|C14.907.253.946.700|C14.907.940.090.530|C14.907.940.907.700|C17.800.862.252|C20.111.258.962.800 Juvenile cranial arteritis|Juvenile polymyalgia rheumatica Cardiovascular disease|Immune system disease|Nervous system disease|Skin disease Juvenile gout MESH:C537696 MESH:D006073|MESH:D007674|MESH:D033461 C05.550.114.423/C537696|C05.550.354.500/C537696|C05.799.414/C537696|C12.050.351.968.419/C537696|C12.200.777.419/C537696|C12.950.419/C537696|C16.320.565.798.368/C537696|C18.452.648.798.368/C537696|C23.550.449/C537696 C05.550.114.423|C05.550.354.500|C05.799.414|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.320.565.798.368|C18.452.648.798.368|C23.550.449 Familial Gout-Kidney Disease|Familial Gouty Nephropathy|Familial Juvenile Hyperuricemic Nephropathy|Gouty nephropathy, familial juvenile|HNFJ|HNFJ1|Hyperuricemic Nephropathy, Familial Juvenile|Hyperuricemic Nephropathy, Familial Juvenile 1|Mckd2|Medullary Cystic Kidney Disease Type 2|Nephropathy, familial, with gout|Umod-Related Kidney Disease|Uromodulin-Associated Kidney Disease|Uromodulin Storage Disease Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Juvenile linear scleroderma MESH:C543758 MESH:D012594 C17.300.787/C543758|C17.800.767/C543758 C17.300.787|C17.800.767 Connective tissue disease|Skin disease Juvenile macular degeneration and hypotrichosis MESH:C537698 OMIM:601553 MESH:D007039|MESH:D008268 C11.768.585.439/C537698|C17.800.329.937/C537698 C11.768.585.439|C17.800.329.937 HJMD|Hypotrichosis, congenital, with juvenile macular dystrophy|Hypotrichosis With Cone-Rod Dystrophy|Juvenile macular dystrophy and congenital hypotrichosis Eye disease|Skin disease Juvenile-onset dystonia MESH:C537704 OMIM:607371 MESH:D020821 C10.228.662.300/C537704 C10.228.662.300 DDS1|DJO|DYSTONIA-DEAFNESS SYNDROME 1|Dystonia, juvenile-onset Nervous system disease Juvenile-onset scleroderma MESH:C543759 MESH:D012594|MESH:D012595 C17.300.787/C543759|C17.300.799/C543759|C17.800.767/C543759|C17.800.784/C543759 C17.300.787|C17.300.799|C17.800.767|C17.800.784 Juvenile Scleroderma Connective tissue disease|Skin disease Juvenile osteoporosis MESH:C537700 MESH:D010024 C05.116.198.579/C537700|C18.452.104.579/C537700 C05.116.198.579|C18.452.104.579 Childhood-Onset Primary Osteoporosis|Idiopathic juvenile osteoporosis|Juvenile Primary Osteoporosis|Osteoporosis, juvenile Metabolic disease|Musculoskeletal disease Juvenile pauciarticular chronic arthritis MESH:C536312 MESH:D001171 C05.550.114.122/C536312|C05.799.056/C536312|C17.300.775.049/C536312|C20.111.198/C536312 C05.550.114.122|C05.799.056|C17.300.775.049|C20.111.198 Pauciarticular chronic arthritis Connective tissue disease|Immune system disease|Musculoskeletal disease Juvenile polyposis syndrome MESH:C537702 DO:DOID:0050787|OMIM:174900 MESH:D009386|MESH:D044483 C04.700/C537702|C06.405.469.578/C537702|C16.320.700/C537702 C04.700|C06.405.469.578|C16.320.700 Bmpr1a-Related Juvenile Polyposis|JIP|JPS|Juvenile intestinal polyposis|Juvenile Polyposis Coli|JUVENILE POLYPOSIS COLI, INCLUDED|Juvenile Polyposis, Infantile|Juvenile Polyposis Of Infancy|Juvenile Polyposis Of Stomach|PJI|Polyposis, familial, of entire gastrointestinal tract|POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACT JUVENILE POLYPOSIS OF STOMACH, INCLUDED|Polyposis, juvenile intestinal|Smad4-Related Juvenile Polyposis Cancer|Digestive system disease|Genetic disease (inborn) Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia MESH:C563412 OMIM:175050 MESH:D013683|MESH:D044483 C06.405.469.578/C563412|C14.907.454.900/C563412|C14.907.823.780/C563412|C15.378.463.515.900/C563412|C16.131.240.850.968/C563412 C06.405.469.578|C14.907.454.900|C14.907.823.780|C15.378.463.515.900|C16.131.240.850.968 JPHHT Syndrome|JP/HHT SYNDROME|JPHT|JPS/HHT|JPSHHT|Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome|JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME|JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA|Polyposis, Generalized Juvenile, with Pulmonary Arteriovenous Malformation|Telangiectasia, Hereditary Hemorrhagic, with Juvenile Polyposis Coli Blood disease|Cardiovascular disease|Congenital abnormality|Digestive system disease Juvenile Spring Eruption of Ears MESH:C566781 MESH:D012873 C16.320.850/C566781|C17.800.827/C566781 C16.320.850|C17.800.827 Genetic disease (inborn)|Skin disease Juvenile systemic scleroderma MESH:C537703 MESH:D012595 C17.300.799/C537703|C17.800.784/C537703 C17.300.799|C17.800.784 Connective tissue disease|Skin disease Kabuki syndrome MESH:C537705 DO:DOID:0060473|OMIM:147920|OMIM:300867 MESH:D000015|MESH:D006402|MESH:D015837 C09.218.568.900/C537705|C15.378/C537705|C16.131.077/C537705 C09.218.568.900|C15.378|C16.131.077 KABUK1|KABUK2|Kabuki make up syndrome|Kabuki Makeup Syndrome|Kabuki Make-Up Syndrome|KABUKI SYNDROME|KABUKI SYNDROME 1|KABUKI SYNDROME 2|KMS|Niikawa-Kuroki syndrome Blood disease|Congenital abnormality|Ear-nose-throat disease Kahrizi Syndrome MESH:C567196 DO:DOID:0050807|OMIM:612713 MESH:D002386|MESH:D003103|MESH:D007738|MESH:D008607|MESH:D019066 C05.116.900.800.500/C567196|C10.597.606.360/C567196|C11.250.110/C567196|C11.270.147/C567196|C11.510.245/C567196|C16.131.384.282/C567196|C23.550.291.812/C567196|C23.888.592.604.646/C567196|F03.625.539/C567196 C05.116.900.800.500|C10.597.606.360|C11.250.110|C11.270.147|C11.510.245|C16.131.384.282|C23.550.291.812|C23.888.592.604.646|F03.625.539 KHRZ|Mental Retardation, Cataract, Coloboma, and Kyphosis, Autosomal Recessive Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Kaler Garrity Stern syndrome MESH:C537706 OMIM:259690 MESH:D001851|MESH:D006201|MESH:D008607 C05.116.198/C537706|C10.597.606.360/C537706|C17.800.329/C537706|C18.452.104/C537706|C23.888.592.604.646/C537706|F03.625.539/C537706 C05.116.198|C10.597.606.360|C17.800.329|C18.452.104|C23.888.592.604.646|F03.625.539 Osteopenia and sparse hair|Osteopenia mental retardation sparse hair Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Kallikrein, Decreased Urinary Activity of MESH:C563653 OMIM:615953 MESH:D008661 C16.320.565/C563653|C18.452.648/C563653 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Kallikrein hypertension MESH:C537707 MESH:D006973 C14.907.489/C537707 C14.907.489 Kallikrein attenuated hypertension Cardiovascular disease Kallmann Syndrome MESH:D017436 DO:DOID:3614|OMIM:147950|OMIM:244200|OMIM:308700|OMIM:610628|OMIM:612370|OMIM:612702 A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait. MESH:D007006|MESH:D030342|MESH:D058490 C12.050.351.875.253.096.750|C12.200.706.316.096.750|C12.800.316.096.750|C16.131.939.316.096.750|C16.320.467|C19.391.119.096.750|C19.391.482.600 C12.050.351.875.253.096|C12.200.706.316.096|C12.800.316.096|C16.131.939.316.096|C16.320|C19.391.119.096|C19.391.482 Anosmic Hypogonadism|Anosmic Hypogonadisms|Anosmic Idiopathic Hypogonadotropic Hypogonadism|Autosomal Dominant Form of Kallmann Syndrome|Autosomal Recessive Form of Kallmann Syndrome|Dysplasia Olfactogenitalis of De Morsier|HH1|HH2|HH3|HH4|HH5|HH6|HHA|Hypogonadism, Anosmic|Hypogonadisms, Anosmic|HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA|HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA|HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA|HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA|HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA|HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA|Hypogonadotropic Hypogonadism and Anosmia|Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion)|Hypogonadotropic Hypogonadism-Anosmia Syndrome|KAL1|KAL2|Kallmann's Syndrome|Kallmanns Syndrome|Kallmann Syndrome 1|Kallmann Syndrome 2|Kallmann Syndrome 3|Kallmann Syndrome, Type 1, X-linked|Kallmann Syndrome, Type 3, Recessive|KMS|Syndrome, Kallmann|Syndrome, Kallmann's Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Kallmann Syndrome 2 with Bimanual Synkinesia MESH:C563652 MESH:D017436|MESH:D046608 C10.597.350.675/C563652|C12.050.351.875.253.096.750/C563652|C12.200.706.316.096.750/C563652|C12.800.316.096.750/C563652|C16.131.939.316.096.750/C563652|C16.320.467/C563652|C19.391.119.096.750/C563652|C19.391.482.600/C563652|C23.888.592.350.675/C563652 C10.597.350.675|C12.050.351.875.253.096.750|C12.200.706.316.096.750|C12.800.316.096.750|C16.131.939.316.096.750|C16.320.467|C19.391.119.096.750|C19.391.482.600|C23.888.592.350.675 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Kallmann Syndrome 2 with Cleft Lip or Palate MESH:C563651 MESH:D002971|MESH:D002972|MESH:D017436 C05.500.460.185/C563651|C05.660.207.540.460.185/C563651|C07.320.440.185/C563651|C07.465.409.225/C563651|C07.465.525.164/C563651|C07.465.525.185/C563651|C07.650.500.460.185/C563651|C07.650.525.164/C563651|C07.650.525.185/C563651|C12.050.351.875.253.096.750/C563651|C12.200.706.316.096.750/C563651|C12.800.316.096.750/C563651|C16.131.621.207.540.460.185/C563651|C16.131.850.500.460.185/C563651|C16.131.850.525.164/C563651|C16.131.850.525.185/C563651|C16.131.939.316.096.750/C563651|C16.320.467/C563651|C19.391.119.096.750/C563651|C19.391.482.600/C563651 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C12.050.351.875.253.096.750|C12.200.706.316.096.750|C12.800.316.096.750|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.131.939.316.096.750|C16.320.467|C19.391.119.096.750|C19.391.482.600 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Kallmann Syndrome 2 with Selective Tooth Agenesis MESH:C566948 MESH:D014071|MESH:D017436 C07.650.800/C566948|C07.793.700/C566948|C12.050.351.875.253.096.750/C566948|C12.200.706.316.096.750/C566948|C12.800.316.096.750/C566948|C16.131.850.800/C566948|C16.131.939.316.096.750/C566948|C16.320.467/C566948|C19.391.119.096.750/C566948|C19.391.482.600/C566948 C07.650.800|C07.793.700|C12.050.351.875.253.096.750|C12.200.706.316.096.750|C12.800.316.096.750|C16.131.850.800|C16.131.939.316.096.750|C16.320.467|C19.391.119.096.750|C19.391.482.600 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mouth disease|Urogenital disease (female)|Urogenital disease (male) Kallmann Syndrome 4 MESH:C565696 MESH:D017436 C12.050.351.875.253.096.750/C565696|C12.200.706.316.096.750/C565696|C12.800.316.096.750/C565696|C16.131.939.316.096.750/C565696|C16.320.467/C565696|C19.391.119.096.750/C565696|C19.391.482.600/C565696 C12.050.351.875.253.096.750|C12.200.706.316.096.750|C12.800.316.096.750|C16.131.939.316.096.750|C16.320.467|C19.391.119.096.750|C19.391.482.600 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Kallmann Syndrome 5 MESH:C567220 MESH:D017436 C12.050.351.875.253.096.750/C567220|C12.200.706.316.096.750/C567220|C12.800.316.096.750/C567220|C16.131.939.316.096.750/C567220|C16.320.467/C567220|C19.391.119.096.750/C567220|C19.391.482.600/C567220 C12.050.351.875.253.096.750|C12.200.706.316.096.750|C12.800.316.096.750|C16.131.939.316.096.750|C16.320.467|C19.391.119.096.750|C19.391.482.600 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Kallmann Syndrome 6 MESH:C567199 MESH:D017436 C12.050.351.875.253.096.750/C567199|C12.200.706.316.096.750/C567199|C12.800.316.096.750/C567199|C16.131.939.316.096.750/C567199|C16.320.467/C567199|C19.391.119.096.750/C567199|C19.391.482.600/C567199 C12.050.351.875.253.096.750|C12.200.706.316.096.750|C12.800.316.096.750|C16.131.939.316.096.750|C16.320.467|C19.391.119.096.750|C19.391.482.600 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Kantaputra Gorlin syndrome MESH:C535547 OMIM:156232 MESH:D001848|MESH:D005530 C05.116.099/C535547|C05.330/C535547 C05.116.099|C05.330 MDK|Mesomelic dysplasia, Kantaputra type|Mesomelic dysplasia, Thai type|Mesomelic dysplasia with ankle, carpal, and tarsal synostosis|MMDK Musculoskeletal disease Kaplan Plauchu Fitch syndrome MESH:C536892 MESH:D003394|MESH:D017880 C05.116.099.370.231/C536892|C05.660.207.231/C536892|C05.660.585/C536892|C16.131.621.207.231/C536892|C16.131.621.585/C536892 C05.116.099.370.231|C05.660.207.231|C05.660.585|C16.131.621.207.231|C16.131.621.585 Acrocraniofacial dysostosis Congenital abnormality|Musculoskeletal disease Kaplowitz Bodurtha syndrome MESH:C536893 MESH:D007018|MESH:D008850 C10.228.140.617.738.300/C536893|C11.250.566/C536893|C16.131.384.666/C536893|C19.700.482/C536893 C10.228.140.617.738.300|C11.250.566|C16.131.384.666|C19.700.482 Congenital hypopituitarism and microphthalmia|Hypopituitarism microphthalmia Congenital abnormality|Endocrine system disease|Eye disease|Nervous system disease Kaposiform Hemangioendothelioma MESH:C537007 MESH:D006390|MESH:D012514|MESH:D059885 C01.925.256.466.860/C537007|C04.557.450.795.850/C537007|C04.557.645.375.370/C537007|C04.557.645.375.617/C537007|C04.557.645.750/C537007|C15.378.140.855.645/C537007 C01.925.256.466.860|C04.557.450.795.850|C04.557.645.375.370|C04.557.645.375.617|C04.557.645.750|C15.378.140.855.645 Congenital cutaneous multifocal kaposiform hemangioendothelioma|Kaposiform hemangio-endothelioma Blood disease|Cancer|Viral disease Kaposi Varicelliform Eruption MESH:D007617 DO:DOID:9123 A disseminated vesicular-pustular eruption caused by the herpes simplex virus (HERPESVIRUS HOMINIS), the VACCINIA VIRUS, or Varicella zoster (HERPESVIRUS 3, HUMAN). It is usually superimposed on a preexisting, inactive or active, atopic dermatitis (DERMATITIS, ATOPIC). MESH:D006561 C01.925.256.466.382.410|C01.925.825.320.410|C17.800.838.790.320.410 C01.925.256.466.382|C01.925.825.320|C17.800.838.790.320 Eczema Herpeticum|Eczema Vaccinatum|Eruption, Kaposi's Varicelliform|Eruption, Kaposi Varicelliform|Kaposi's Varicelliform Eruption|Kaposis Varicelliform Eruption|Varicelliform Eruption, Kaposi|Varicelliform Eruption, Kaposi's Skin disease|Viral disease Kappa-Chain Deficiency MESH:C564131 MESH:D007153 C20.673/C564131 C20.673 Immune system disease Kapur Toriello syndrome MESH:C537008 MESH:D000015|MESH:D002971|MESH:D002972|MESH:D005124|MESH:D008607|MESH:D019465 C05.500.460.185/C537008|C05.660.207.540.460.185/C537008|C05.660.207/C537008|C07.320.440.185/C537008|C07.465.409.225/C537008|C07.465.525.164/C537008|C07.465.525.185/C537008|C07.650.500.460.185/C537008|C07.650.525.164/C537008|C07.650.525.185/C537008|C10.597.606.360/C537008|C11.250/C537008|C16.131.077/C537008|C16.131.384/C537008|C16.131.621.207.540.460.185/C537008|C16.131.621.207/C537008|C16.131.850.500.460.185/C537008|C16.131.850.525.164/C537008|C16.131.850.525.185/C537008|C23.888.592.604.646/C537008|F03.625.539/C537008 C05.500.460.185|C05.660.207|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C10.597.606.360|C11.250|C16.131.077|C16.131.384|C16.131.621.207|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C23.888.592.604.646|F03.625.539 Cleft lip palate, facial, eye, heart and intestinal anomalies|Long columella with cleft lip-palate and eye, heart, and intestinal anomalies Congenital abnormality|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Karak Syndrome MESH:C548029 MESH:D019150 C10.228.140.744/C548029 C10.228.140.744 Nervous system disease Karandikar Maria Kamble syndrome MESH:C537009 MESH:D001006|MESH:D002386|MESH:D008607 C06.198.050/C537009|C10.597.606.360/C537009|C11.510.245/C537009|C16.131.314.094/C537009|C23.888.592.604.646/C537009|F03.625.539/C537009 C06.198.050|C10.597.606.360|C11.510.245|C16.131.314.094|C23.888.592.604.646|F03.625.539 Cataract mental retardation anal atresia urinary defects|Congenital cataract with multiple congenital anomalies in a sibship Congenital abnormality|Digestive system disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Karoshi Death MESH:D065907 Sudden death from overwork, most often as a result of acute CARDIOVASCULAR STROKE. MESH:D016757 C14.280.383.220.500|C23.550.260.322.250.500 C14.280.383.220|C23.550.260.322.250 Death, Karoshi|Deaths, Karoshi|Karoshi-Death|Karoshi Deaths|Karoshi-Deaths Cardiovascular disease|Pathology (process) Kartagener Syndrome MESH:D007619 DO:DOID:0050144|OMIM:244400 An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts. MESH:D001987|MESH:D002925|MESH:D003914|MESH:D015619|MESH:D030342 C08.127.384.500|C08.200.531|C08.695.501|C09.150.531|C14.240.400.280.500|C14.280.400.280.500|C16.131.077.245.500.531|C16.131.240.400.280.500|C16.131.740.501|C16.131.810.250.500|C16.320.184.500.531|C16.320.480 C08.127.384|C08.200|C08.695|C09.150|C14.240.400.280|C14.280.400.280|C16.131.077.245.500|C16.131.240.400.280|C16.131.740|C16.131.810.250|C16.320|C16.320.184.500 Bronchiectasis, Polynesian|CILD1|Ciliary Dyskinesia, Primary, 1|Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus|Dextrocardia, Bronchiectasis, and Sinusitis|DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS, INCLUDED|ICS|IMMOTILE CILIA SYNDROME|Kartagener's Syndrome|Kartageners Syndrome|Kartagener's Triad|Kartageners Triad|Kartagener Triad|PCD|Polynesian Bronchiectases|Polynesian Bronchiectasis|POLYNESIAN BRONCHIECTASIS KARTAGENER SYNDROME, INCLUDED|Siewert Syndrome|SIEWERT SYNDROME, INCLUDED|Syndrome, Kartagener|Syndrome, Kartagener's|Syndrome, Siewert Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Kasabach-Merritt Syndrome MESH:D059885 Rapidly growing vascular lesion along the midline axis of the neck, upper trunk, and extremities that is characterized by CONSUMPTION COAGULOPATHY; THROMBOCYTOPENIA; and HEMOLYTIC ANEMIA. It is often associated with infantile Kaposiform HEMANGIOENDOTHELIOMA and other vascular tumors such as tufted ANGIOMA. MESH:D006391|MESH:D013921 C04.557.645.375.617|C15.378.140.855.645 C04.557.645.375|C15.378.140.855 Hemangioma Thrombocytopenia Syndrome|Hemangioma-Thrombocytopenia Syndrome|Hemangioma Thrombocytopenia Syndromes|Kasabach Merritt Phenomenon|Kasabach-Merritt Phenomenon|Kasabach Merritt Syndrome|Phenomenon, Kasabach-Merritt|Syndrome, Hemangioma Thrombocytopenia|Syndrome, Kasabach-Merritt|Syndromes, Hemangioma Thrombocytopenia|Syndromes, Thrombocytopenia-Hemangioma|Syndrome, Thrombocytopenia-Hemangioma|Thrombocytopenia Hemangioma Syndrome|Thrombocytopenia-Hemangioma Syndrome|Thrombocytopenia-Hemangioma Syndromes Blood disease|Cancer Kashani Strom Utley syndrome MESH:C537010 MESH:D000015|MESH:D008171|MESH:D014524 C08.381/C537010|C12.050.351.968.767.700/C537010|C12.200.777.767.700/C537010|C12.950.767.700/C537010|C16.131.077/C537010 C08.381|C12.050.351.968.767.700|C12.200.777.767.700|C12.950.767.700|C16.131.077 Hypoplastic pulmonary arteries and aorta with obstructive uropathy|Pulmonary aortic stenosis obstructive uropathy Congenital abnormality|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Kashin-Beck Disease MESH:D057767 Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology. MESH:D010009 C05.116.099.708.534 C05.116.099.708 Disease, Kashin-Beck|Kashin Beck Disease Musculoskeletal disease Kasznica Carlson Coppedge syndrome MESH:C537011 MESH:D000015|MESH:D006330|MESH:D016137|MESH:D063173 C05.500.460.827/C537011|C05.660.207.540.460.827/C537011|C07.320.440.827/C537011|C07.320.610.827/C537011|C07.650.500.460.827/C537011|C10.500.680.800.730/C537011|C14.240.400/C537011|C14.280.400/C537011|C16.131.077/C537011|C16.131.240.400/C537011|C16.131.621.207.540.460.827/C537011|C16.131.666.680.800.730/C537011|C16.131.850.500.460.827/C537011 C05.500.460.827|C05.660.207.540.460.827|C07.320.440.827|C07.320.610.827|C07.650.500.460.827|C10.500.680.800.730|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.207.540.460.827|C16.131.666.680.800.730|C16.131.850.500.460.827 Ectrodactyly spina bifida cardiopathy Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease Katsantoni Papadakou Lagoyanni syndrome MESH:C537012 MESH:D006201|MESH:D008607 C10.597.606.360/C537012|C17.800.329/C537012|C23.888.592.604.646/C537012|F03.625.539/C537012 C10.597.606.360|C17.800.329|C23.888.592.604.646|F03.625.539 Trichodermal syndrome and mental retardation Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Kaufman oculocerebrofacial syndrome MESH:C537013 DO:DOID:0111456|OMIM:244450 MESH:D005124|MESH:D008607|MESH:D008831|MESH:D017880|MESH:D019066 C05.660.207.620/C537013|C05.660.585/C537013|C10.500.507.400.500/C537013|C10.597.606.360/C537013|C11.250/C537013|C16.131.384/C537013|C16.131.621.207.620/C537013|C16.131.621.585/C537013|C16.131.666.507.400.500/C537013|C23.550.291.812/C537013|C23.888.592.604.646/C537013|F03.625.539/C537013 C05.660.207.620|C05.660.585|C10.500.507.400.500|C10.597.606.360|C11.250|C16.131.384|C16.131.621.207.620|C16.131.621.585|C16.131.666.507.400.500|C23.550.291.812|C23.888.592.604.646|F03.625.539 BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME|BPIDS|KOS Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms KBG syndrome MESH:C537015 DO:DOID:14780|OMIM:148050 MESH:D000015|MESH:D001848|MESH:D008607|MESH:D014071|MESH:D019066 C05.116.099/C537015|C07.650.800/C537015|C07.793.700/C537015|C10.597.606.360/C537015|C16.131.077/C537015|C16.131.850.800/C537015|C23.550.291.812/C537015|C23.888.592.604.646/C537015|F03.625.539/C537015 C05.116.099|C07.650.800|C07.793.700|C10.597.606.360|C16.131.077|C16.131.850.800|C23.550.291.812|C23.888.592.604.646|F03.625.539 KBGS|MACRODONTIA, MENTAL RETARDATION, CHARACTERISTIC FACIES, SHORT STATURE, AND SKELETAL ANOMALIES|Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Kearns-Sayre Syndrome MESH:D007625 DO:DOID:12934|OMIM:530000 A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984) MESH:D009202|MESH:D012174|MESH:D017246 C05.651.460.700.500|C10.292.562.750.250.500|C10.597.622.447.511.500|C10.668.491.500.700.500|C11.590.472.250.500|C11.768.585.658.500.627|C14.280.238.510|C18.452.660.560.700.500|C23.550.291.500.688.500|C23.888.592.636.447.511.500 C05.651.460.700|C10.292.562.750.250|C10.597.622.447.511|C10.668.491.500.700|C11.590.472.250|C11.768.585.658.500|C14.280.238|C18.452.660.560.700|C23.550.291.500.688|C23.888.592.636.447.511 Chronic Progressive External Ophthalmoplegia with Myopathy|CPEO with Myopathies|CPEO with Myopathy|Cpeo With Ragged-Red Fibers|CPEO with Ragged Red Fibers|Cytopathies, Kearns-Sayre Mitochondrial|Cytopathy, Kearn-Sayre Mitochondrial|Cytopathy, Kearns-Sayre Mitochondrial|Kearn Sayre Mitochondrial Cytopathy|Kearn-Sayre Mitochondrial Cytopathy|Kearns-Sayre Mitochondrial Cytopathies|Kearns Sayre Mitochondrial Cytopathy|Kearns-Sayre Mitochondrial Cytopathy|Kearns Sayre Shy Daroff Syndrome|Kearns-Sayre-Shy-Daroff Syndrome|Kearns Sayre Syndrome|Kearns Syndrome|Kearns' Syndrome|Kearn Syndrome|KSS|Mitochondrial Cytopathies, Kearns-Sayre|MITOCHONDRIAL CYTOPATHY|Mitochondrial Cytopathy, Kearn-Sayre|Mitochondrial Cytopathy, Kearns-Sayre|Myopathies, CPEO with|Myopathy, CPEO with|Oculocraniosomatic Syndrome|Oculocraniosomatic Syndromes|Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy|Ophthalmoplegia Plus Syndrome|Ophthalmoplegia-Plus Syndrome|Ophthalmoplegia Plus Syndromes|Ophthalmoplegia-Plus Syndromes|Ophthalmoplegia, Progressive External, With Ragged-Red Fibers|Sayre Syndrome, Kearns|Syndrome, Kearns|Syndrome, Kearns'|Syndrome, Kearns Sayre|Syndrome, Kearns-Sayre|Syndrome, Kearns-Sayre-Shy-Daroff|Syndrome, Oculocraniosomatic|Syndrome, Ophthalmoplegia Plus|Syndrome, Ophthalmoplegia-Plus|Syndromes, Ophthalmoplegia-Plus Cardiovascular disease|Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Keloid MESH:D007627 A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar (CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues. MESH:D002921|MESH:D003095 C17.300.200.425|C23.550.355.274.510 C17.300.200|C23.550.355.274 Keloids Connective tissue disease|Pathology (process) Kennerknecht Sorgo Oberhoffer syndrome MESH:C537018 MESH:D003914|MESH:D065630 C14.240.400.280/C537018|C14.280.400.280/C537018|C16.131.240.400.280/C537018|C16.131.433/C537018|C16.131.810.250/C537018|C23.300.707.960.500.116/C537018 C14.240.400.280|C14.280.400.280|C16.131.240.400.280|C16.131.433|C16.131.810.250|C23.300.707.960.500.116 Agonadism dextrocardia diaphragmatic hernia|Agonadism with multiple internal malformations|PAGOD syndrome Cardiovascular disease|Congenital abnormality|Pathology (anatomical condition) Kennerknecht Vogel syndrome MESH:C537019 MESH:D001847|MESH:D006061 C05.116/C537019|C12.050.351.875.253.096.687/C537019|C12.050.351.875.253.309.388/C537019|C12.200.706.316.096.687/C537019|C12.200.706.316.309.388/C537019|C12.800.316.096.687/C537019|C12.800.316.309.388/C537019|C16.131.939.316.096.687/C537019|C16.131.939.316.309.388/C537019|C19.391.119.096.687/C537019|C19.391.119.309.388/C537019 C05.116|C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 Agonadism mental retardation delayed bone age Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Kenny-Caffey syndrome, Type 1 MESH:C537021 OMIM:244460 MESH:D006958 C05.116.099.708.479/C537021|C05.116.540.400/C537021|C16.614.465/C537021 C05.116.099.708.479|C05.116.540.400|C16.614.465 KCS|KCS1|Kenny Caffey syndrome|Kenny-Caffey Syndrome, Autosomal Recessive|Kenny-Caffey syndrome, autosomal recessive form|Kenny syndrome Infant-newborn disease|Musculoskeletal disease Kenny-Caffey syndrome, type 2 MESH:C537020 OMIM:127000 MESH:D004392|MESH:D006958|MESH:D006996 C05.116.099.343/C537020|C05.116.099.708.479/C537020|C05.116.540.400/C537020|C16.320.240/C537020|C16.614.465/C537020|C18.452.174.509/C537020|C18.452.950.509/C537020|C19.297/C537020 C05.116.099.343|C05.116.099.708.479|C05.116.540.400|C16.320.240|C16.614.465|C18.452.174.509|C18.452.950.509|C19.297 Dwarfism, cortical thickening of tubular bones, and transient hypocalcemia|KCS2|KENNY SYNDROME Endocrine system disease|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Musculoskeletal disease KEPPEN-LUBINSKY SYNDROME OMIM:614098 MESH:D002658|MESH:D008060|MESH:D008607|MESH:D011596|MESH:D019066|MESH:D019465 C05.660.207/614098|C10.597.606.360/614098|C10.597.606.881/614098|C16.131.621.207/614098|C17.800.849.391/614098|C18.452.584.625/614098|C18.452.880.391/614098|C23.550.291.812/614098|C23.888.592.604.646/614098|C23.888.592.604.882/614098|F03.625.421/614098|F03.625.539/614098 C05.660.207|C10.597.606.360|C10.597.606.881|C16.131.621.207|C17.800.849.391|C18.452.584.625|C18.452.880.391|C23.550.291.812|C23.888.592.604.646|C23.888.592.604.882|F03.625.421|F03.625.539 KPLBS Congenital abnormality|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Keratitis MESH:D007634 DO:DOID:4677 Inflammation of the cornea. MESH:D003316 C11.204.564 C11.204 Keratitides Eye disease Keratitis, Dendritic MESH:D007635 DO:DOID:0080158 A form of herpetic keratitis characterized by the formation of small vesicles which break down and coalesce to form recurring dendritic ulcers, characteristically irregular, linear, branching, and ending in knoblike extremities. (Dictionary of Visual Science, 3d ed) MESH:D016849 C01.375.725.465.450|C01.925.256.466.382.465.450|C01.925.325.465.450|C11.204.564.425.450|C11.294.800.475.450 C01.375.725.465|C01.925.256.466.382.465|C01.925.325.465|C11.204.564.425|C11.294.800.475 Dendritic Keratitides|Dendritic Keratitis|Furrow Keratitides|Furrow Keratitis|Keratitides, Dendritic|Keratitides, Furrow|Keratitis, Furrow Eye disease|Viral disease Keratitis Fugax Hereditaria MESH:C563650 MESH:D007634 C11.204.564/C563650 C11.204.564 Keratoendotheliitis Fugax Hereditaria Eye disease Keratitis, hereditary MESH:C537022 DO:DOID:0111383|OMIM:148190 MESH:D007634 C11.204.564/C537022 C11.204.564 Dominantly inherited keratitis Eye disease Keratitis, Herpetic MESH:D016849 DO:DOID:0080158 A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (KERATITIS, DENDRITIC). (Dictionary of Visual Science, 3d ed) MESH:D006561|MESH:D007634|MESH:D015828 C01.375.725.465|C01.925.256.466.382.465|C01.925.325.465|C11.204.564.425|C11.294.800.475 C01.375.725|C01.925.256.466.382|C01.925.325|C11.204.564|C11.294.800 Herpes Simplex Keratitides|Herpes Simplex Keratitis|Herpes Simplex, Ocular|Herpetic Keratitides|Herpetic Keratitis|Keratitides, Herpes Simplex|Keratitides, Herpetic|Keratitis, Herpes Simplex|Ocular Herpes Simplex Eye disease|Viral disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome MESH:C536168 OMIM:148210 MESH:D003638|MESH:D007057|MESH:D007634 C09.218.458.341.186/C536168|C10.597.751.418.341.186/C536168|C11.204.564/C536168|C16.131.831.512/C536168|C16.614.492/C536168|C17.800.428.333/C536168|C17.800.804.512/C536168|C23.888.592.763.393.341.186/C536168 C09.218.458.341.186|C10.597.751.418.341.186|C11.204.564|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512|C23.888.592.763.393.341.186 Keratitis-ichthyosis-deafness syndrome, autosomal dominant|KIDAD|KID syndrome|Kid Syndrome, Autosomal Dominant Congenital abnormality|Ear-nose-throat disease|Eye disease|Infant-newborn disease|Nervous system disease|Signs and symptoms|Skin disease Keratitis-Ichthyosis-Deafness Syndrome MESH:C580224 MESH:D007634 C11.204.564/C580224 C11.204.564 Keratitis, Ichthyosis, and Deafness Eye disease Keratitis sicca MESH:C531719 MESH:D007638 C11.187.183.394.500/C531719|C11.204.564.585.630/C531719|C11.496.260.394/C531719 C11.187.183.394.500|C11.204.564.585.630|C11.496.260.394 Eye disease Keratoacanthoma MESH:D007636 DO:DOID:3149 A benign, non-neoplastic, usually self-limiting epithelial lesion closely resembling squamous cell carcinoma clinically and histopathologically. It occurs in solitary, multiple, and eruptive forms. The solitary and multiple forms occur on sunlight exposed areas and are identical histologically; they affect primarily white males. The eruptive form usually involves both sexes and appears as a generalized papular eruption. MESH:D012871 C17.800.417 C17.800 Keratoacanthomas Skin disease Keratoacanthoma familial MESH:C536150 OMIM:132800 MESH:D002277|MESH:D007636 C04.557.470.200/C536150|C17.800.417/C536150 C04.557.470.200|C17.800.417 Epithelioma, self-healing squamous, 1|ESS1, FORMERLY|Ferguson-Smith Type epithelioma|FERGUSON-SMITH-TYPE EPITHELIOMA|MSSE|Multiple self-healing squamous epithelioma|MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO Cancer|Skin disease Keratoactinomycosis MESH:C000598941 MESH:D003320|MESH:D003607 C01.375.177/C000598941|C11.204.564.225/C000598941|C11.294.177/C000598941|C11.496.221/C000598941 C01.375.177|C11.204.564.225|C11.294.177|C11.496.221 Eye disease Keratoconjunctivitis MESH:D007637 DO:DOID:9368 Simultaneous inflammation of the cornea and conjunctiva. MESH:D003231|MESH:D007634 C11.187.183.394|C11.204.564.585 C11.187.183|C11.204.564 Keratoconjunctivitides Eye disease Keratoconjunctivitis, Infectious MESH:D007639 Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is MORAXELLA (MORAXELLA) BOVIS; in sheep, MYCOPLASMA; RICKETTSIA; CHLAMYDIA; or ACHOLEPLASMA; in goats, RICKETTSIA. MESH:D000820|MESH:D007637|MESH:D015818 C01.150.252.289.450|C01.375.354.450|C11.187.183.394.520|C11.204.564.585.500|C11.294.354.450|C22.500 C01.150.252.289|C01.375.354|C11.187.183.394|C11.204.564.585|C11.294.354|C22 Infectious Keratoconjunctivitides|Infectious Keratoconjunctivitis|Keratoconjunctivitides, Infectious Animal disease|Bacterial infection or mycosis|Eye disease Keratoconjunctivitis Sicca MESH:D007638 DO:DOID:12895 Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME. MESH:D007637|MESH:D015352 C11.187.183.394.500|C11.204.564.585.630|C11.496.260.394 C11.187.183.394|C11.204.564.585|C11.496.260 Sicca, Keratoconjunctivitis Eye disease Keratoconus MESH:D007640 DO:DOID:10126 A noninflammatory, usually bilateral protrusion and thinning of the CORNEA, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. Two closely related noninflammatory corneal ectasias are pellucid marginal degeneration and keratoglobus. MESH:D003316 C11.204.627 C11.204 Degeneration, Pellucid Marginal|Keratoglobus|Marginal Degeneration, Pellucid|Pellucid Marginal Corneal Degeneration|Pellucid Marginal Degeneration|Pellucid Marginal Degenerations Eye disease Keratoconus 1 MESH:C563649 OMIM:148300 MESH:D007640 C11.204.627/C563649 C11.204.627 KTCN1 Eye disease Keratoconus 2 MESH:C563827 OMIM:608932 MESH:D007640 C11.204.627/C563827 C11.204.627 KTCN2 Eye disease Keratoconus 3 MESH:C563900 OMIM:608586 MESH:D007640 C11.204.627/C563900 C11.204.627 KTCN3 Eye disease Keratoconus 4 MESH:C563752 OMIM:609271 MESH:D007640 C11.204.627/C563752 C11.204.627 KTCN4 Eye disease Keratoconus And Congenital Hip Dysplasia MESH:C565456 MESH:D006618|MESH:D007640 C05.660.297.500/C565456|C11.204.627/C565456|C16.131.621.297.500/C565456|C16.131.621.449/C565456 C05.660.297.500|C11.204.627|C16.131.621.297.500|C16.131.621.449 Congenital abnormality|Eye disease|Musculoskeletal disease Keratoconus posticus circumscriptus MESH:C536151 MESH:D007640 C11.204.627/C536151 C11.204.627 Eye disease Keratoconus Posticus Circumscriptus with Associated Malformations MESH:C565455 MESH:D000015|MESH:D007640 C11.204.627/C565455|C16.131.077/C565455 C11.204.627|C16.131.077 KPC with Associated Malformations Congenital abnormality|Eye disease Keratoderma, Palmoplantar MESH:D007645 OMIM:248300 Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis). MESH:D007642|MESH:D012873 C16.320.850.475|C17.800.428.435|C17.800.827.475 C16.320.850|C17.800.428|C17.800.827 de Meleda, Mal|Disease, Meleda|Hyperkeratosis Palmaris et Plantaris|Keratodermas, Palmoplantar|Keratoses, Palmoplantar|Keratosis Palmaris et Plantaris|Keratosis, Palmoplantar|Keratosis Palmoplantaris Transgradiens of Siemens|KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS|Mal de Meleda|MDM|Meleda Disease|Meleda, Mal de|Palmoplantar Keratoderma|Palmoplantar Keratodermas|Palmoplantar Keratoses|Palmoplantar Keratosis Genetic disease (inborn)|Skin disease Keratoderma, Palmoplantar, Diffuse MESH:D015776 DO:DOID:0050428 An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present. MESH:D007645 C16.320.850.475.440|C17.800.428.435.440|C17.800.827.475.440 C16.320.850.475|C17.800.428.435|C17.800.827.475 Keratosis Palmaris et Plantaris Familiaris|Syndrome, Thost-Unna|Syndrome, Unna-Thost|Thost Unna Syndrome|Thost-Unna Syndrome|Tylosis|Unna Thost Syndrome|Unna-Thost Syndrome Genetic disease (inborn)|Skin disease Keratoderma, Palmoplantar, Epidermolytic MESH:D053546 OMIM:144200 An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9. MESH:D015776 C16.320.850.475.440.500|C17.800.428.435.440.500|C17.800.827.475.440.500 C16.320.850.475.440|C17.800.428.435.440|C17.800.827.475.440 Epidermolytic Hyperkeratoses, Localized|Epidermolytic Hyperkeratosis, Localized|Epidermolytic Palmoplantar Keratoderma|Epidermolytic Palmoplantar Keratodermas|Epidermolytic Palmoplantar Keratoderma Vorner Type|Epidermolytic Thost-Unna Disease|Epidermolytic Unna-Thost Disease|EPPK1|EPPK (Epidermolytic Palmoplantar Keratoderma)|EPPKs (Epidermolytic Palmoplantar Keratoderma)|Greither Keratosis|Hyperkeratoses, Localized Epidermolytic|Hyperkeratosis, Localized Epidermolytic|Keratoderma, Epidermolytic Palmoplantar|Keratodermas, Epidermolytic Palmoplantar|Keratosis of Greither|KERATOSIS PALMARIS ET PLANTARIS FAMILIARIS|Localized Epidermolytic Hyperkeratoses|Localized Epidermolytic Hyperkeratosis|Palmoplantar Keratoderma, Epidermolytic|PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 1|PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS|Palmoplantar Keratodermas, Epidermolytic|PALMOPLANTAR KERATODERMA, VORNER TYPE|PPKE|Thost Unna Disease, Epidermolytic|Thost-Unna Disease, Epidermolytic|TYLOSIS|Unna Thost Disease, Epidermolytic|Unna-Thost Disease, Epidermolytic Genetic disease (inborn)|Skin disease Keratoderma palmoplantaris transgrediens MESH:C536154 MESH:D010214 C16.320.850.475.600/C536154|C17.800.428.435.600/C536154|C17.800.827.475.600/C536154 C16.320.850.475.600|C17.800.428.435.600|C17.800.827.475.600 Keratosis palmoplantaris transgrediens et progrediens Genetic disease (inborn)|Skin disease Keratoderma, Palmoplantar, Norrbotten Recessive Type MESH:C565454 MESH:D007645 C16.320.850.475/C565454|C17.800.428.435/C565454|C17.800.827.475/C565454 C16.320.850.475|C17.800.428.435|C17.800.827.475 Genetic disease (inborn)|Skin disease Keratoderma palmoplantar spastic paralysis MESH:C536153 MESH:D002607|MESH:D007645|MESH:D009260 C10.500.300.200/C536153|C10.574.500.495.200/C536153|C10.668.829.800.300.200/C536153|C16.131.666.300.200/C536153|C16.320.400.375.200/C536153|C16.320.850.475/C536153|C17.800.428.435/C536153|C17.800.529/C536153|C17.800.827.475/C536153 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200|C16.320.850.475|C17.800.428.435|C17.800.529|C17.800.827.475 Axonal neuropathy with palmoplantar keratoderma|Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy|Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease Keratolytic winter erythema MESH:C536155 OMIM:148370 MESH:D004890|MESH:D007642|MESH:D012873 C16.320.850/C536155|C17.800.229/C536155|C17.800.428/C536155|C17.800.827/C536155|C23.888.885.328/C536155 C16.320.850|C17.800.229|C17.800.428|C17.800.827|C23.888.885.328 Erythrokeratolysis hiemalis ichthyosis|KWE|Oudtshoorn skin|OUDTSHOORN SKIN DISEASE Genetic disease (inborn)|Signs and symptoms|Skin disease Keratomalacia MESH:C536156 DO:DOID:11267 MESH:D014802 C18.654.521.500.133.628/C536156 C18.654.521.500.133.628 Retinol Deficiency|Xerotic Keratitis Nutrition disorder Keratosis MESH:D007642 DO:DOID:161 Any horny growth such as a wart or callus. MESH:D012871 C17.800.428 C17.800 Blennorrhagica, Keratosis|Blennorrhagicas, Keratosis|Blennorrhagicum, Keratoderma|Blennorrhagicums, Keratoderma|Keratoderma Blennorrhagicum|Keratoderma Blennorrhagicums|Keratoma|Keratomas|Keratoses|Keratosis Blennorrhagica|Keratosis Blennorrhagicas Skin disease Keratosis, Actinic MESH:D055623 DO:DOID:8866 White or pink lesions on the arms, hands, face, or scalp that arise from sun-induced DNA DAMAGE to KERATINOCYTES in exposed areas. They are considered precursor lesions to superficial SQUAMOUS CELL CARCINOMA. MESH:D007642|MESH:D011230 C04.834.450|C17.800.428.570 C04.834|C17.800.428 Actinic Keratoses|Actinic Keratosis|Keratoses, Actinic Cancer|Skin disease Keratosis, Familial Actinic MESH:C567190 MESH:D055623 C04.834.450/C567190|C17.800.428.570/C567190 C04.834.450|C17.800.428.570 Cancer|Skin disease Keratosis focal palmoplantar gingival MESH:C536157 MESH:D005882|MESH:D007645 C07.465.714.258/C536157|C16.320.850.475/C536157|C17.800.428.435/C536157|C17.800.827.475/C536157 C07.465.714.258|C16.320.850.475|C17.800.428.435|C17.800.827.475 Focal Palmoplantar and Gingival Hyperkeratosis Syndrome|Focal palmoplantar and oral mucosa hyperkeratosis|Keratosis, Focal Palmoplantar and Gingival Genetic disease (inborn)|Mouth disease|Skin disease Keratosis follicularis dwarfism cerebral atrophy MESH:C536158 MESH:D001927|MESH:D004392|MESH:D007644 C05.116.099.343/C536158|C10.228.140/C536158|C16.320.240/C536158|C16.320.850.190/C536158|C17.800.428.275/C536158|C17.800.827.190/C536158|C19.297/C536158 C05.116.099.343|C10.228.140|C16.320.240|C16.320.850.190|C17.800.428.275|C17.800.827.190|C19.297 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Skin disease Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant MESH:C567553 MESH:D000505|MESH:D007644|MESH:D020795 C10.597.751.941.661/C567553|C11.966.741/C567553|C16.320.850.190/C567553|C17.800.329.937.122/C567553|C17.800.428.275/C567553|C17.800.827.190/C567553|C23.300.035/C567553|C23.888.592.763.941.661/C567553 C10.597.751.941.661|C11.966.741|C16.320.850.190|C17.800.329.937.122|C17.800.428.275|C17.800.827.190|C23.300.035|C23.888.592.763.941.661 Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Keratosis Follicularis Spinulosa Decalvans, X-Linked MESH:C536159 OMIM:308800 MESH:D007057|MESH:D012873|MESH:D040181 C16.131.831.512/C536159|C16.320.322/C536159|C16.320.850/C536159|C16.614.492/C536159|C17.800.428.333/C536159|C17.800.804.512/C536159|C17.800.827/C536159 C16.131.831.512|C16.320.322|C16.320.850|C16.614.492|C17.800.428.333|C17.800.804.512|C17.800.827 Keratosis follicularis spinulosa decalvans|Keratosis follicularis spinulosa decalvans cum ophiasi|Kfsdx Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma MESH:C566600 OMIM:601952 MESH:D012868|MESH:D012873 C16.131.831/C566600|C16.320.850/C566600|C17.800.804/C566600|C17.800.827/C566600 C16.131.831|C16.320.850|C17.800.804|C17.800.827 KLICK|KLICK Syndrome Congenital abnormality|Genetic disease (inborn)|Skin disease Keratosis Palmaris et Plantaris with Clinodactyly MESH:C563646 MESH:D007645 C16.320.850.475/C563646|C17.800.428.435/C563646|C17.800.827.475/C563646 C16.320.850.475|C17.800.428.435|C17.800.827.475 Genetic disease (inborn)|Skin disease Keratosis palmoplantaris papulosa MESH:C536161 OMIM:148600 MESH:D007645 C16.320.850.475/C536161|C17.800.428.435/C536161|C17.800.827.475/C536161 C16.320.850.475|C17.800.428.435|C17.800.827.475 Buschke Fischer Brauer syndrome|Keratoderma, palmoplantar punctate type 1|Keratoderma, Palmoplantar, Punctate Type I|Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|KERATOSIS PALMOPLANTARIS PAPULOSA|KPPP1|PALMOPLANTAR KERATODERMA, PUNCTATE TYPE I|PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA|PPKP1|PPKP1A|Type I punctate palmoplantar keratoderma Genetic disease (inborn)|Skin disease Keratosis palmoplantaris striata 1 MESH:C536162 DO:DOID:0081108|OMIM:148700 MESH:D007645 C16.320.850.475/C536162|C17.800.428.435/C536162|C17.800.827.475/C536162 C16.320.850.475|C17.800.428.435|C17.800.827.475 Keratoderma, palmoplantar striate form 1|Keratoderma, Palmoplantar, Striate Form I|Keratosis Palmoplantaris Striata I|KPPS1|PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE|PPKS1|SPPK1|Striate palmoplantar keratoderma 1|Striate Palmoplantar Keratoderma I Genetic disease (inborn)|Skin disease Keratosis palmoplantaris striata 3 MESH:C536163 DO:DOID:0081110|OMIM:607654 MESH:D007645 C16.320.850.475/C536163|C17.800.428.435/C536163|C17.800.827.475/C536163 C16.320.850.475|C17.800.428.435|C17.800.827.475 Keratoderma palmoplantar striate form 3|Keratoderma, Palmoplantar, Striate Form III|Keratosis Palmoplantaris Striata III|KPPS3|PPKS3|SPPK3|Striate palmoplantar keratoderma 3|Striate Palmoplantar Keratoderma III Genetic disease (inborn)|Skin disease Keratosis Palmoplantaris Striata II MESH:C565102 DO:DOID:0081109|OMIM:612908 MESH:D007645 C16.320.850.475/C565102|C17.800.428.435/C565102|C17.800.827.475/C565102 C16.320.850.475|C17.800.428.435|C17.800.827.475 Keratoderma, Palmoplantar, Striate Form II|KPPS2|PPKS2|SPPK2|Striate Palmoplantar Keratoderma II Genetic disease (inborn)|Skin disease Keratosis palmoplantaris with esophageal cancer MESH:C536164 DO:DOID:0111506|OMIM:148500 MESH:D004938|MESH:D007645 C04.588.274.476.205/C536164|C04.588.443.353/C536164|C06.301.371.205/C536164|C06.405.117.430/C536164|C06.405.249.205/C536164|C16.320.850.475/C536164|C17.800.428.435/C536164|C17.800.827.475/C536164 C04.588.274.476.205|C04.588.443.353|C06.301.371.205|C06.405.117.430|C06.405.249.205|C16.320.850.475|C17.800.428.435|C17.800.827.475 Howell Evans syndrome|Keratosis Palmaris Et Plantaris With Esophageal Cancer|PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER|TOC|Tylosis with esophageal cancer Cancer|Digestive system disease|Genetic disease (inborn)|Skin disease Keratosis palmoplantaris with periodontopathia and onychogryposis MESH:C537627 OMIM:245010 MESH:D010214|MESH:D030981 C05.116.099.052/C537627|C05.116.264.579.052/C537627|C16.320.850.475.600/C537627|C17.800.428.435.600/C537627|C17.800.827.475.600/C537627 C05.116.099.052|C05.116.264.579.052|C16.320.850.475.600|C17.800.428.435.600|C17.800.827.475.600 Cochin Jewish disorder|Haim-Munk syndrome|HMS|KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS Genetic disease (inborn)|Musculoskeletal disease|Skin disease KERATOSIS PILARIS ATROPHICANS OMIM:604093 DO:DOID:0080751 MESH:C537412 C16.131.077/C537412/604093|C16.320.850.190/C537412/604093|C17.800.428.275/C537412/604093|C17.800.827.190/C537412/604093 C16.131.077/C537412|C16.320.850.190/C537412|C17.800.428.275/C537412|C17.800.827.190/C537412 KPA Congenital abnormality|Genetic disease (inborn)|Skin disease Keratosis, Seborrheic MESH:D017492 DO:DOID:6498|OMIM:182000 Benign eccrine poromas that present as multiple oval, brown-to-black plaques, located mostly on the chest and back. The age of onset is usually in the fourth or fifth decade. MESH:D007642 C17.800.428.580 C17.800.428 Keratoses, Seborrheic|Keratosis Seborrheica|Seborrheic Keratoses|Seborrheic Keratosis Skin disease Kernicterus MESH:D007647 DO:DOID:2382 A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613) MESH:D001928|MESH:D004899|MESH:D006932 C10.228.140.163.480|C15.378.295.502|C16.614.304.502|C18.452.132.480|C20.306.502|C23.550.429.750 C10.228.140.163|C15.378.295|C16.614.304|C18.452.132|C20.306|C23.550.429 Bilirubin Encephalopathies|Bilirubin Encephalopathy|Encephalopathies, Bilirubin|Encephalopathies, Hyperbilirubinemic|Encephalopathy, Bilirubin|Encephalopathy, Hyperbilirubinemic|Hyperbilirubinemic Encephalopathies|Hyperbilirubinemic Encephalopathy Blood disease|Immune system disease|Infant-newborn disease|Metabolic disease|Nervous system disease|Pathology (process) Keshan disease MESH:C536166 DO:DOID:0050083 MESH:D004769|MESH:D009202 C01.925.782.687.359/C536166|C14.280.238/C536166 C01.925.782.687.359|C14.280.238 Cardiovascular disease|Viral disease Ketoadipicaciduria MESH:C565453 MESH:D000592|MESH:D004487|MESH:D009123|MESH:D016113 C10.597.613.575/C565453|C16.131.831.512.400/C565453|C16.320.565.100/C565453|C16.320.850.400/C565453|C16.614.492.400/C565453|C17.800.428.333.250/C565453|C17.800.804.512.400/C565453|C17.800.827.400/C565453|C18.452.648.100/C565453|C23.888.277/C565453|C23.888.592.608.575/C565453 C10.597.613.575|C16.131.831.512.400|C16.320.565.100|C16.320.850.400|C16.614.492.400|C17.800.428.333.250|C17.800.804.512.400|C17.800.827.400|C18.452.648.100|C23.888.277|C23.888.592.608.575 Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease Ketosis MESH:D007662 A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE). MESH:D000138 C18.452.076.176.652 C18.452.076.176 Acetonemia|Acetonemias|Acetonuria|Acetonurias|Ketoacidemia|Ketoacidemias|Ketoacidoses|Ketoacidoses, Metabolic|Ketoacidosis|Ketoacidosis, Metabolic|Ketoaciduria|Ketoacidurias|Ketonemia|Ketonemias|Ketonuria|Ketonurias|Ketoses, Metabolic|Ketosis, Metabolic|Metabolic Ketoacidoses|Metabolic Ketoacidosis|Metabolic Ketoses|Metabolic Ketosis Metabolic disease Keutel syndrome MESH:C536167 OMIM:245150 MESH:D000015|MESH:D002114|MESH:D002357|MESH:D006228|MESH:D011666 C05.182/C536167|C05.390.408/C536167|C05.660.585.988.425/C536167|C14.280.484.716/C536167|C14.280.955.750/C536167|C16.131.077/C536167|C16.131.621.585.988.500/C536167|C17.300.182/C536167|C18.452.174.130/C536167 C05.182|C05.390.408|C05.660.585.988.425|C14.280.484.716|C14.280.955.750|C16.131.077|C16.131.621.585.988.500|C17.300.182|C18.452.174.130 KTLS|Pulmonic stenosis, brachytelephalangism, and calcification of cartilages Cardiovascular disease|Congenital abnormality|Connective tissue disease|Metabolic disease|Musculoskeletal disease Kidney Calculi MESH:D007669 Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE. MESH:D014545|MESH:D053040 C12.050.351.968.419.600.500|C12.050.351.968.967.249.500|C12.050.351.968.967.500.503|C12.200.777.419.600.500|C12.200.777.967.249.500|C12.200.777.967.500.503|C12.950.419.600.500|C12.950.967.249.500|C12.950.967.500.503|C23.300.175.850.550 C12.050.351.968.419.600|C12.050.351.968.967.249|C12.050.351.968.967.500|C12.200.777.419.600|C12.200.777.967.249|C12.200.777.967.500|C12.950.419.600|C12.950.967.249|C12.950.967.500|C23.300.175.850 Calculi, Kidney|Calculi, Renal|Calculus, Kidney|Calculus, Renal|Kidney Calculus|Kidney Stone|Kidney Stones|Nephrolith|Renal Calculi|Renal Calculus|Stone, Kidney|Stones, Kidney Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Kidney Cortex Necrosis MESH:D007673 DO:DOID:2973 Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity. MESH:D007674 C12.050.351.968.419.393|C12.200.777.419.393|C12.950.419.393 C12.050.351.968.419|C12.200.777.419|C12.950.419 Glomerular Necrosis|Necrosis, Glomerular|Necrosis, Kidney Cortex|Necrosis, Renal Cortical|Necrosis, Renal Tubule|Renal Cortical Necrosis|Renal Tubule Necrosis Urogenital disease (female)|Urogenital disease (male) Kidney Diseases MESH:D007674 DO:DOID:557 Pathological processes of the KIDNEY or its component tissues. MESH:D014570 C12.050.351.968.419|C12.200.777.419|C12.950.419 C12.050.351.968|C12.200.777|C12.950 Disease, Kidney|Diseases, Kidney|Kidney Disease Urogenital disease (female)|Urogenital disease (male) Kidney Diseases, Cystic MESH:D052177 DO:DOID:2975 A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC). MESH:D007674 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 C12.050.351.968.419|C12.200.777.419|C12.950.419 Cystic Kidney|Cystic Kidney Disease|Cystic Kidney Diseases|Cystic Kidneys|Cystic Renal Disease|Cystic Renal Diseases|Disease, Cystic Kidney|Disease, Cystic Renal|Diseases, Cystic Kidney|Diseases, Cystic Renal|Kidney, Cystic|Kidney Disease, Cystic|Kidneys, Cystic|Renal Disease, Cystic|Renal Diseases, Cystic Urogenital disease (female)|Urogenital disease (male) Kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules MESH:C531755 MESH:D009397 C12.050.351.968.419.590/C531755|C12.200.777.419.590/C531755|C12.950.419.590/C531755|C18.452.174.130.560/C531755 C12.050.351.968.419.590|C12.200.777.419.590|C12.950.419.590|C18.452.174.130.560 Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Kidney Failure, Chronic MESH:D007676 DO:DOID:784 The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION. MESH:D051436 C12.050.351.968.419.780.750.500|C12.200.777.419.780.750.500|C12.950.419.780.750.500|C23.550.291.500.906.500 C12.050.351.968.419.780.750|C12.200.777.419.780.750|C12.950.419.780.750|C23.550.291.500.906 Chronic Kidney Failure|Chronic Renal Failure|Disease, End-Stage Kidney|Disease, End-Stage Renal|End Stage Kidney Disease|End-Stage Kidney Disease|End Stage Renal Disease|End-Stage Renal Disease|End-Stage Renal Failure|ESRD|Kidney Disease, End-Stage|Renal Disease, End Stage|Renal Disease, End-Stage|Renal Failure, Chronic|Renal Failure, End Stage|Renal Failure, End-Stage Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Kidney Neoplasms MESH:D007680 DO:DOID:263 Tumors or cancers of the KIDNEY. MESH:D007674|MESH:D014571 C04.588.945.947.535|C12.050.351.937.820.535|C12.050.351.968.419.473|C12.200.758.820.750|C12.200.777.419.473|C12.900.820.535|C12.950.419.473|C12.950.983.535 C04.588.945.947|C12.050.351.937.820|C12.050.351.968.419|C12.200.758.820|C12.200.777.419|C12.900.820|C12.950.419|C12.950.983 Cancer, Kidney|Cancer of Kidney|Cancer of the Kidney|Cancer, Renal|Cancers, Kidney|Cancers, Renal|Kidney Cancer|Kidney Cancers|Kidney Neoplasm|Neoplasm, Kidney|Neoplasm, Renal|Neoplasms, Kidney|Neoplasms, Renal|Renal Cancer|Renal Cancers|Renal Neoplasm|Renal Neoplasms Cancer|Urogenital disease (female)|Urogenital disease (male) Kidney Papillary Necrosis MESH:D007681 DO:DOID:2981 A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE. MESH:D007674 C12.050.351.968.419.493|C12.200.777.419.493|C12.950.419.493 C12.050.351.968.419|C12.200.777.419|C12.950.419 Necrosis, Kidney Papillary|Necrosis, Renal Medullary|Necrotizing Renal Papillitides|Necrotizing Renal Papillitis|Papillary Necrosis, Kidney|Papillitides, Necrotizing Renal|Renal Medullary Necrosis|Renal Papillitides, Necrotizing|Renal Papillitis, Necrotizing Urogenital disease (female)|Urogenital disease (male) Kidney Tubular Necrosis, Acute MESH:D007683 DO:DOID:12556 Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA. MESH:D058186 C12.050.351.968.419.780.050.500|C12.200.777.419.780.050.500|C12.950.419.780.050.500 C12.050.351.968.419.780.050|C12.200.777.419.780.050|C12.950.419.780.050 Acute Kidney Tubular Necrosis|Lower Nephron Nephroses|Lower Nephron Nephrosis|Nephron Nephroses, Lower|Nephron Nephrosis, Lower|Nephroses, Lower Nephron|Nephrosis, Lower Nephron Urogenital disease (female)|Urogenital disease (male) Kifafa seizure disorder MESH:C537708 MESH:D004827 C10.228.140.490/C537708 C10.228.140.490 Complex familial seizure disorder|Vitsala Nervous system disease Kimura Disease MESH:D000082242 DO:DOID:7365 A chronic inflammatory disease characterized by benign enlargement of cervical LYMPH NODE and SALIVARY GLANDS with increased levels of IMMUNOGLOBULIN E. Unlike ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA it involves eosinophil infiltrates in lymph node and salivary glands and mostly found in Asian males. MESH:D004802|MESH:D008199|MESH:D012466 C07.465.815.178|C15.378.553.231.774|C15.604.315.459 C07.465.815|C15.378.553.231|C15.604.315 Disease, Kimura|Disease, Kimura's|Eosinophilic Granuloma of Soft Tissue|Eosinophilic Hyperplastic Lymphogranuloma|Eosinophilic Hyperplastic Lymphogranulomas|Eosinophilic Lymphofollicular Granuloma|Eosinophilic Lymphofollicular Granulomas|Eosinophilic Lymphofolliculoses|Eosinophilic Lymphofolliculosis|Granuloma, Eosinophilic Lymphofollicular|Hyperplastic Lymphogranuloma, Eosinophilic|Kimura's Disease|Kimuras Disease|Kimura's Diseases|Lymphofollicular Granuloma, Eosinophilic|Lymphofolliculosis, Eosinophilic|Lymphogranuloma, Eosinophilic Hyperplastic Blood disease|Lymphatic disease|Mouth disease Kinesiophobia MESH:D000092442 Anxiety disorder of persistent and irrational fear of movement following an injury. It is related to perceived disability due to injury and CATASTROPHIZING in fear of (anticipated) PAIN and possibility of REINJURY. MESH:D010698 F03.080.725.375 F03.080.725 Activity Avoidance, Pain-Related|Avoidance, Pain-Related Activity|Fear of Movement|Kinesophobia|Kinetophobia|Movement Fear|Movement Phobia|Pain Related Activity Avoidance|Pain-Related Activity Avoidance|Phobia, Movement Mental disorder King Denborough syndrome MESH:C536883 DO:DOID:0080990 MESH:D008305 C23.550.505.700/C536883|C23.550.767.600/C536883|C23.888.119.455.500/C536883 C23.550.505.700|C23.550.767.600|C23.888.119.455.500 Anesthetic-induced malignant hyperpyrexia in children|King-Denborough Syndrome|King syndrome Pathology (process)|Signs and symptoms King's Evil MESH:D018601 DO:DOID:4889 The historic designation for scrofula (TUBERCULOSIS, LYMPH NODE). The disease is so called from the belief that it could be healed by the touch of a king. This term is used only for historical articles using the name 'king's evil', and is to be differentiated from scrofula as lymph node tuberculosis in modern clinical medicine. (From Webster, 3d ed) MESH:D014388 C01.150.252.410.040.552.846.617.475.500 C01.150.252.410.040.552.846.617.475 Evil, King's|Evil, Kings|Evils, Kings|Kings Evil|Kings Evils Bacterial infection or mycosis Kininogen Deficiency, High Molecular Weight and Low Molecular Weight MESH:C567116 MESH:D001796 C15.378.147/C567116 C15.378.147 Blood disease Klatskin Tumor MESH:D018285 DO:DOID:4927 Cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts (COMMON HEPATIC DUCT). These tumors are generally small, sharply localized, and seldom metastasizing. MESH:D018281 C04.557.470.200.025.450.500 C04.557.470.200.025.450 Cholangiocarcinoma, Hilar|Cholangiocarcinoma, Perihilar|Cholangiocarcinomas, Hilar|Cholangiocarcinomas, Perihilar|Hilar Cholangiocarcinoma|Hilar Cholangiocarcinomas|Klatskin's Tumor|Klatskins Tumor|Perihilar Cholangiocarcinoma|Perihilar Cholangiocarcinomas|Tumor, Klatskin|Tumor, Klatskin's Cancer Klebsiella Infections MESH:D007710 DO:DOID:13272 Infections with bacteria of the genus KLEBSIELLA. MESH:D004756 C01.150.252.400.310.503 C01.150.252.400.310 Infection, Klebsiella|Infections, Klebsiella|Klebsiella Infection Bacterial infection or mycosis Kleeblattschaedel syndrome MESH:C536884 MESH:D003398 C05.116.099.370.894.232/C536884|C05.660.207.240/C536884|C05.660.906.364/C536884|C16.131.621.207.240/C536884|C16.131.621.906.364/C536884 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364 Cloverleaf skull syndrome|Kleeblattschaedel-deformity syndrome Congenital abnormality|Musculoskeletal disease Kleefstra Syndrome MESH:C563043 DO:DOID:0060352|OMIM:610253 MESH:D002872|MESH:D006330|MESH:D008607|MESH:D019465 C05.660.207/C563043|C10.597.606.360/C563043|C14.240.400/C563043|C14.280.400/C563043|C16.131.240.400/C563043|C16.131.621.207/C563043|C23.550.210.050.500.500/C563043|C23.888.592.604.646/C563043|F03.625.539/C563043 C05.660.207|C10.597.606.360|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.539 9q34.3 Deletion Syndrome|9q34.3 Microdeletion Syndrome|9q Subtelomeric Deletion Syndrome|9q- Syndrome|Chromosome 9q34.3 Deletion Syndrome|KLEEFSTRA SYNDROME 1|KLEFS1 Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Kleine-Levin Syndrome MESH:D017593 DO:DOID:0060165 A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569) MESH:D006970 C10.886.425.800.200.500|F03.870.400.800.200.500 C10.886.425.800.200|F03.870.400.800.200 Familial Hibernation (Kleine-Levin) Syndrome|Familial Kleine Levin Syndrome|Familial Kleine-Levin Syndrome|Hibernation Syndrome, Kleine-Levin|Hypersomnia, Periodic|Kleine Levin Critchley Syndrome|Kleine-Levin-Critchley Syndrome|Kleine Levin Hibernation Syndrome|Kleine-Levin Hibernation Syndrome|Kleine Levin Syndrome|Kleine-Levin Syndrome, Familial|Periodic Hypersomnia|Periodic Hypersomnias|Syndrome, Familial Kleine-Levin|Syndrome, Kleine-Levin|Syndrome, Kleine-Levin-Critchley|Syndrome, Kleine-Levin Hibernation Mental disorder|Nervous system disease Kleiner Holmes syndrome MESH:C536885 MESH:D000015|MESH:D013576|MESH:D050488 C05.116.099.370.894.819/C536885|C05.330.612/C536885|C05.660.585.800/C536885|C05.660.906.819/C536885|C16.131.077/C536885|C16.131.621.585.800/C536885|C16.131.621.906.819/C536885 C05.116.099.370.894.819|C05.330.612|C05.660.585.800|C05.660.906.819|C16.131.077|C16.131.621.585.800|C16.131.621.906.819 Hallux varus and preaxial polysyndactyly Congenital abnormality|Musculoskeletal disease Klinefelter Syndrome MESH:D007713 DO:DOID:1921 A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.). MESH:D007006|MESH:D058533 C12.050.351.875.253.795.500|C12.200.706.316.795.500|C12.800.316.795.500|C16.131.260.830.835.500|C16.131.939.316.795.500|C16.320.180.830.835.500|C19.391.119.795.500|C19.391.482.629 C12.050.351.875.253.795|C12.200.706.316.795|C12.800.316.795|C16.131.260.830.835|C16.131.939.316.795|C16.320.180.830.835|C19.391.119.795|C19.391.482 48,XXYY Syndrome|49,XXXXY Syndrome|Klinefelter's Syndrome|Klinefelters Syndrome|Klinefelter Syndromes|Klinefelter Syndromes, Variants|Klinefelter Syndrome, Variants|Syndrome, Klinefelter|Syndrome, Klinefelter's|Syndromes, Klinefelter|Syndromes, Variants Klinefelter|Syndromes, XXY|Syndromes, Xxyy|Syndrome, Variants Klinefelter|Syndrome, XXY|Syndrome, Xxyy|Trisomies, XXY|Trisomy, XXY|XXXY Male|XXXY Males|XXY Syndrome|XXY Syndromes|XXY Trisomies|XXY Trisomy|Xxyy Syndrome|Xxyy Syndromes Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Klippel-Feil Syndrome MESH:D007714 DO:DOID:10426 A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. MESH:D004413|MESH:D009139 C05.116.099.370.535|C05.660.551|C16.131.621.551 C05.116.099.370|C05.660|C16.131.621 Cervical Fusion Syndrome|Dystrophia Brevicollis Congenita|Dystrophia Brevicollis Congenitas|Klippel-Feil Sequence|Klippel Feil Syndrome|Syndrome, Klippel-Feil|Vertebral Cervical Fusion Syndrome Congenital abnormality|Musculoskeletal disease KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT OMIM:613702 DO:DOID:0080591 MESH:C536887 C05.116.099.370.535/C536887/613702|C05.660.551/C536887/613702|C16.131.621.551/C536887/613702 C05.116.099.370.535/C536887|C05.660.551/C536887|C16.131.621.551/C536887 KFS3 Congenital abnormality|Musculoskeletal disease KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM OMIM:616549 DO:DOID:0080592 MESH:D007714|MESH:D017696|MESH:D019465 C05.116.099.370.535/616549|C05.651.575.290/616549|C05.660.207/616549|C05.660.551/616549|C10.668.491.550.290/616549|C16.131.621.207/616549|C16.131.621.551/616549 C05.116.099.370.535|C05.651.575.290|C05.660.207|C05.660.551|C10.668.491.550.290|C16.131.621.207|C16.131.621.551 KFS4 Congenital abnormality|Musculoskeletal disease|Nervous system disease Klippel Feil syndrome dominant type MESH:C536887 OMIM:118100 MESH:D007714 C05.116.099.370.535/C536887|C05.660.551/C536887|C16.131.621.551/C536887 C05.116.099.370.535|C05.660.551|C16.131.621.551 Cervical vertebral fusion, autosomal dominant|KFS|KFS1|KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT|Klippel-Feil syndrome, autosomal dominant Congenital abnormality|Musculoskeletal disease Klippel Feil syndrome recessive type MESH:C536888 OMIM:214300 MESH:D007714 C05.116.099.370.535/C536888|C05.660.551/C536888|C16.131.621.551/C536888 C05.116.099.370.535|C05.660.551|C16.131.621.551 Cervical vertebral fusion, autosomal recessive|KFS2|Kfs, Autosomal Recessive|KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE|Klippel-Feil Syndrome, Autosomal Recessive Congenital abnormality|Musculoskeletal disease Klippel-Trenaunay-Weber Syndrome MESH:D007715 DO:DOID:2926|OMIM:149000 A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator. MESH:D000798 C14.907.077.410 C14.907.077 Angioosteohypertrophy Syndrome|Angio Osteohypertrophy Syndrome|Angio-Osteohypertrophy Syndrome|Angioosteohypertrophy Syndromes|Angio-Osteohypertrophy Syndromes|Angiopathies, Congenital Dysplastic|Angiopathy, Congenital Dysplastic|Congenital Dysplastic Angiopathies|Congenital Dysplastic Angiopathy|Disease, Klippel-Trenaunay|Dysplastic Angiopathies, Congenital|Dysplastic Angiopathy, Congenital|Klippel Trenaunay Disease|Klippel-Trenaunay Disease|Klippel Trenaunay Syndrome|Klippel-Trenaunay Syndrome|Klippel-Trenaunay Syndromes|Klippel Trenaunay Weber Syndrome|Klippel Trénaunay Weber Syndrome|Klippel-Trénaunay-Weber Syndrome|KTS|KTW Syndrome|KTW Syndromes|Syndrome, Angioosteohypertrophy|Syndrome, Angio-Osteohypertrophy|Syndrome, Klippel Trenaunay|Syndrome, Klippel-Trenaunay|Syndrome, Klippel-Trenaunay-Weber|Syndrome, Klippel-Trénaunay-Weber|Syndrome, KTW|Syndromes, Angioosteohypertrophy|Syndromes, Angio-Osteohypertrophy|Syndromes, Klippel-Trenaunay|Syndromes, KTW Cardiovascular disease Kluver-Bucy Syndrome MESH:D020232 DO:DOID:2510 A neurobehavioral syndrome associated with bilateral medial temporal lobe dysfunction. Clinical manifestations include oral exploratory behavior; tactile exploratory behavior; hypersexuality; BULIMIA; MEMORY DISORDERS; placidity; and an inability to recognize objects or faces. This disorder may result from a variety of conditions, including CRANIOCEREBRAL TRAUMA; infections; ALZHEIMER DISEASE; PICK DISEASE OF THE BRAIN; and CEREBROVASCULAR DISORDERS. MESH:D003704 C10.228.140.380.326|F03.615.400.431 C10.228.140.380|F03.615.400 Kluver Bucy Syndrome|Syndrome, Kluver-Bucy|Temporal Lobectomy Behavior Syndrome Mental disorder|Nervous system disease Knee Dislocation MESH:D031221 Slippage of the FEMUR off the TIBIA. MESH:D004204|MESH:D007718 C05.550.518.500|C26.289.500|C26.558.554.500 C05.550.518|C26.289|C26.558.554 Dislocation, Knee|Dislocations, Knee|Knee Dislocations Musculoskeletal disease|Wounds and injuries Knee Fractures MESH:D000092443 Fractures of bones at the KNEE and the KNEE JOINT. MESH:D007718|MESH:D050723 C26.404.525|C26.558.554.625 C26.404|C26.558.554 Condyle Fracture, Femoral|Condyle Fractures, Femoral|Condyles Fracture, Femoral|Eminence Fracture, Tibial|Femoral Condyle Fracture|Femoral Condyle Fractures|Femoral Condyles Fracture|Femoral Condyles Fractures|Fractured Knee|Fractured Knees|Fracture, Femoral Condyle|Fracture, Femoral Condyles|Fracture, Knee|Fracture, Knee Joint|Fractures, Tibial Eminence|Fracture, Tibial Eminence|Fracture, Tibial Spine|Fracture, Tibial Tuberosity|Joint Fracture, Knee|Knee Fracture|Knee, Fractured|Knee Joint Fracture|Knee Joint Fractures|Knees, Fractured|Spine Fracture, Tibial|Tibial Eminence Fracture|Tibial Eminence Fractures|Tibial Spine Fracture|Tibial Spine Fractures|Tibial Tuberosity Fracture|Tibial Tuberosity Fractures|Tuberosity Fractures, Tibial|Tuberosity Fracture, Tibial Wounds and injuries Knee Injuries MESH:D007718 Injuries to the knee or the knee joint. MESH:D007869 C26.558.554 C26.558 Injuries, Knee|Injury, Knee|Knee Injury Wounds and injuries Kniest dysplasia MESH:C537207 DO:DOID:0080045|OMIM:156550 MESH:D002972|MESH:D003095|MESH:D004392|MESH:D006819|MESH:D010009 C05.116.099.343/C537207|C05.116.099.708/C537207|C05.500.460.185/C537207|C05.660.207.540.460.185/C537207|C07.320.440.185/C537207|C07.465.525.185/C537207|C07.650.500.460.185/C537207|C07.650.525.185/C537207|C08.381.840.500.475/C537207|C08.618.840.500.475/C537207|C16.131.621.207.540.460.185/C537207|C16.131.850.500.460.185/C537207|C16.131.850.525.185/C537207|C16.320.240/C537207|C16.320.728/C537207|C16.614.521.563.475/C537207|C17.300.200/C537207|C19.297/C537207 C05.116.099.343|C05.116.099.708|C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C08.381.840.500.475|C08.618.840.500.475|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.240|C16.320.728|C16.614.521.563.475|C17.300.200|C19.297 Kniest Chondrodystrophy|Kniest Syndrome|Swiss Cheese Cartilage Dysplasia Congenital abnormality|Connective tissue disease|Endocrine system disease|Genetic disease (inborn)|Infant-newborn disease|Mouth disease|Musculoskeletal disease|Respiratory tract disease Kniest like dysplasia lethal MESH:C537208 MESH:D005097|MESH:D006819|MESH:D006831|MESH:D058627 C04.557.450.565.575.610.615.325/C537208|C04.700.330/C537208|C05.116.099.708.670.615.325/C537208|C05.116.540.310.500/C537208|C05.660.207.536/C537208|C08.381.840.500.475/C537208|C08.618.840.500.475/C537208|C10.500.507.400.249/C537208|C12.050.703.610/C537208|C16.131.621.207.532/C537208|C16.131.666.507.400.249/C537208|C16.320.700.330/C537208|C16.614.521.563.475/C537208 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708.670.615.325|C05.116.540.310.500|C05.660.207.536|C08.381.840.500.475|C08.618.840.500.475|C10.500.507.400.249|C12.050.703.610|C16.131.621.207.532|C16.131.666.507.400.249|C16.320.700.330|C16.614.521.563.475 Arthrosis, flat face, hypotonia, short neck and macrocephaly|Kniest-Like Dysplasia, Lethal|Lethal Kniest-like dysplasia Cancer|Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease|Nervous system disease|Pregnancy complication|Respiratory tract disease Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis MESH:C565452 MESH:D004479|MESH:D008865|MESH:D010009 C05.116.099.708/C565452|C07.465.525.520/C565452|C07.650.525.520/C565452|C11.250.300/C565452|C11.510.598.373/C565452|C16.131.384.405/C565452|C16.131.850.525.520/C565452|C16.320.728/C565452 C05.116.099.708|C07.465.525.520|C07.650.525.520|C11.250.300|C11.510.598.373|C16.131.384.405|C16.131.850.525.520|C16.320.728 Burton Syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Knobloch syndrome MESH:C537209 OMIM:267750 MESH:D004677|MESH:D012162|MESH:D012163 C10.500.680.488/C537209|C11.270.612/C537209|C11.768.585/C537209|C11.768.648/C537209|C16.131.666.680.488/C537209|C23.300.707.186/C537209 C10.500.680.488|C11.270.612|C11.768.585|C11.768.648|C16.131.666.680.488|C23.300.707.186 KNO|KNO1|KNOBLOCH SYNDROME 1|Knobloch Syndrome, Type I|Passos-Bueno syndrome|Retinal Detachment and Occipital Encephalocele|Retinal detachment occipital encephalocele Congenital abnormality|Eye disease|Nervous system disease|Pathology (anatomical condition) Knobloch Syndrome Type II MESH:C548030 MESH:D004677|MESH:D012163 C10.500.680.488/C548030|C11.768.648/C548030|C16.131.666.680.488/C548030|C23.300.707.186/C548030 C10.500.680.488|C11.768.648|C16.131.666.680.488|C23.300.707.186 Knobloch Syndrome, Type II Congenital abnormality|Eye disease|Nervous system disease|Pathology (anatomical condition) Knobloch Syndrome Type III MESH:C548031 MESH:D004677|MESH:D012163 C10.500.680.488/C548031|C11.768.648/C548031|C16.131.666.680.488/C548031|C23.300.707.186/C548031 C10.500.680.488|C11.768.648|C16.131.666.680.488|C23.300.707.186 Knobloch Syndrome, Type III Congenital abnormality|Eye disease|Nervous system disease|Pathology (anatomical condition) Knuckle pads, leuconychia and sensorineural deafness MESH:C537210 OMIM:149200 MESH:D000015|MESH:D006319|MESH:D007645 C09.218.458.341.887/C537210|C10.597.751.418.341.887/C537210|C16.131.077/C537210|C16.320.850.475/C537210|C17.800.428.435/C537210|C17.800.827.475/C537210|C23.888.592.763.393.341.887/C537210 C09.218.458.341.887|C10.597.751.418.341.887|C16.131.077|C16.320.850.475|C17.800.428.435|C17.800.827.475|C23.888.592.763.393.341.887 BAPS|Bart Pumphrey syndrome|Bart-Pumphrey Syndrome|Knuckle Pads, Leukonychia, and Sensorineural Deafness|Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease Kocher-Debre-Semelaigne syndrome MESH:C537211 MESH:D003409|MESH:D006984|MESH:D009135 C05.116.099.343.347/C537211|C05.116.132.256/C537211|C05.651/C537211|C10.668.491/C537211|C16.320.240.625/C537211|C19.297.155/C537211|C19.874.482.281/C537211|C23.300.775/C537211 C05.116.099.343.347|C05.116.132.256|C05.651|C10.668.491|C16.320.240.625|C19.297.155|C19.874.482.281|C23.300.775 Kocher Debre Semelaigne disease Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Kohlschutter Tonz syndrome MESH:C537213 DO:DOID:0111668|OMIM:226750 MESH:D000567|MESH:D003704|MESH:D004827 C07.650.800.295.250/C537213|C07.793.700.295.250/C537213|C10.228.140.380/C537213|C10.228.140.490/C537213|C16.131.850.800.295.250/C537213|F03.615.400/C537213 C07.650.800.295.250|C07.793.700.295.250|C10.228.140.380|C10.228.140.490|C16.131.850.800.295.250|F03.615.400 Epilepsy and yellow teeth|Epilepsy dementia amelogenesis imperfecta|Epilepsy, Dementia, And Amelogenesis Imperfecta|Kohlschutter syndrome|Kohlschutter-Tonz Syndrome|KTZS Congenital abnormality|Mental disorder|Mouth disease|Nervous system disease Konigsmark Knox Hussels syndrome MESH:C537214 MESH:D003638|MESH:D015418 C09.218.458.341.186/C537214|C10.292.700.225.500/C537214|C10.574.500.662/C537214|C10.597.751.418.341.186/C537214|C11.270.564/C537214|C11.640.451.451/C537214|C16.320.290.564/C537214|C16.320.400.630/C537214|C23.888.592.763.393.341.186/C537214 C09.218.458.341.186|C10.292.700.225.500|C10.574.500.662|C10.597.751.418.341.186|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630|C23.888.592.763.393.341.186 Deafness optic atrophy syndrome|Dominant congenital deafness and progressive optic nerve atrophy Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Koone Rizzo Elias syndrome MESH:C537023 MESH:D007057|MESH:D008607|MESH:D009128 C05.651.512/C537023|C10.597.606.360/C537023|C10.597.613.550.550/C537023|C16.131.831.512/C537023|C16.614.492/C537023|C17.800.428.333/C537023|C17.800.804.512/C537023|C23.888.592.604.646/C537023|C23.888.592.608.550.550/C537023|F03.625.539/C537023 C05.651.512|C10.597.606.360|C10.597.613.550.550|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512|C23.888.592.604.646|C23.888.592.608.550.550|F03.625.539 Ichthyosis, mental retardation and asymptomatic spasticity Congenital abnormality|Infant-newborn disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Korsakoff Syndrome MESH:D020915 DO:DOID:10915|OMIM:277730 An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139) MESH:D008569 C10.597.606.525.400|C23.888.592.604.529.400 C10.597.606.525|C23.888.592.604.529 ALCOHOL-INDUCED ENCEPHALOPATHY|Korsakoff Psychoses|Korsakoff Psychosis|Psychoses, Korsakoff|Psychosis, Korsakoff|TRANSKETOLASE DEFECT|Wernicke Korsakoff Syndrome|Wernicke-Korsakoff Syndrome|Wernicke-Korsakoff Syndromes Nervous system disease|Signs and symptoms KOSAKI OVERGROWTH SYNDROME OMIM:616592 MESH:D006130|MESH:D009139|MESH:D012868|MESH:D019465|MESH:D019636|MESH:D056784 C05.660.207/616592|C05.660/616592|C10.228.140.695/616592|C10.574/616592|C16.131.621.207/616592|C16.131.621/616592|C16.131.831/616592|C17.800.804/616592|C23.550.393/616592 C05.660|C05.660.207|C10.228.140.695|C10.574|C16.131.621|C16.131.621.207|C16.131.831|C17.800.804|C23.550.393 KOGS|SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Skin disease Kosztolanyi syndrome MESH:C537024 MESH:D000015|MESH:D008607|MESH:D019465|MESH:D054119 C05.660.207/C537024|C05.660.585.174/C537024|C10.597.606.360/C537024|C16.131.077/C537024|C16.131.621.207/C537024|C16.131.621.585.174/C537024|C23.888.592.604.646/C537024|F03.625.539/C537024 C05.660.207|C05.660.585.174|C10.597.606.360|C16.131.077|C16.131.621.207|C16.131.621.585.174|C23.888.592.604.646|F03.625.539 Arachnodactyly, abnormal ossification and mental retardation|Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Kotzot-Richter syndrome MESH:C537025 MESH:D000081207|MESH:D022861 C11.270.040.545.400/C537025|C15.378.100.100.515/C537025|C15.378.100.685.400/C537025|C15.378.140.735.400/C537025|C15.378.463.735.400/C537025|C16.320.099.515/C537025|C16.320.290.040.100.400/C537025|C16.320.565.100.102.100.400/C537025|C16.320.798/C537025|C16.320.850.080.100.400/C537025|C17.800.621.440.102.100.400/C537025|C17.800.827.080.100.400/C537025|C18.452.648.100.102.100.400/C537025|C20.673.795/C537025 C11.270.040.545.400|C15.378.100.100.515|C15.378.100.685.400|C15.378.140.735.400|C15.378.463.735.400|C16.320.099.515|C16.320.290.040.100.400|C16.320.565.100.102.100.400|C16.320.798|C16.320.850.080.100.400|C17.800.621.440.102.100.400|C17.800.827.080.100.400|C18.452.648.100.102.100.400|C20.673.795 Albinism with immune and hematologic defects|Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies Blood disease|Eye disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Skin disease Kounis Syndrome MESH:D000074962 A disorder of cardiac function secondary to hypersensitivity reactions. It is characterized by coexistence of acute coronary syndromes and cardiac MAST CELL and PLATELET ACTIVATION. It may be induced by exposure to drugs (e.g., antibiotics, anesthetics, contrast media), food, and environmental triggers (e.g., insect bites and stings, poison ivy). MESH:D006967|MESH:D017202 C14.280.647.375|C14.907.585.375|C20.543.560 C14.280.647|C14.907.585|C20.543 Allergic Acute Coronary Syndrome|Allergic Angina Syndrome|Allergic Angina Syndromes|Allergic Myocardial Infarction|Allergic Myocardial Infarctions|Myocardial Infarction, Allergic Cardiovascular disease|Immune system disease Kousseff Nichols syndrome MESH:C537504 MESH:D009634 C05.660.207.690/C537504|C14.240.400.787/C537504|C14.280.400.787/C537504|C16.131.240.400.784/C537504|C16.131.621.207.690/C537504|C17.300.690/C537504 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690 Noonan like contracture myopathy hyperpyrexia Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease Kowarski syndrome MESH:C537505 OMIM:262650 MESH:D004393 C05.116.099.343.445/C537505|C05.116.132.358/C537505|C10.228.140.617.738.300.300/C537505|C19.297.312/C537505|C19.700.482.311/C537505 C05.116.099.343.445|C05.116.132.358|C10.228.140.617.738.300.300|C19.297.312|C19.700.482.311 BIODEFECTIVE GROWTH HORMONE|Nanism due to growth hormone qualitative anomaly|Pituitary dwarfism 4|Pituitary dwarfism with normal immunoreactive growth hormone|Pituitary Dwarfism With Normal Immunoreactive Growth Hormone And Low Somatomedin Endocrine system disease|Musculoskeletal disease|Nervous system disease Kozlowski Brown Hardwick syndrome MESH:C537506 MESH:D000015|MESH:D006849 C10.228.140.602/C537506|C16.131.077/C537506 C10.228.140.602|C16.131.077 Congenital abnormality|Nervous system disease Kozlowski-Krajewska syndrome MESH:C537615 MESH:D006201|MESH:D008607|MESH:D013576|MESH:D017689|MESH:D019066 C05.116.099.370.894.819/C537615|C05.660.585.600/C537615|C05.660.585.800/C537615|C05.660.906.819/C537615|C10.597.606.360/C537615|C16.131.621.585.600/C537615|C16.131.621.585.800/C537615|C16.131.621.906.819/C537615|C17.800.329/C537615|C23.550.291.812/C537615|C23.888.592.604.646/C537615|F03.625.539/C537615 C05.116.099.370.894.819|C05.660.585.600|C05.660.585.800|C05.660.906.819|C10.597.606.360|C16.131.621.585.600|C16.131.621.585.800|C16.131.621.906.819|C17.800.329|C23.550.291.812|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Kozlowski Ouvrier syndrome MESH:C537508 MESH:D008607|MESH:D061085 C10.500.034/C537508|C10.597.606.360/C537508|C16.131.666.034/C537508|C23.300.008/C537508|C23.888.592.604.646/C537508|F03.625.539/C537508 C10.500.034|C10.597.606.360|C16.131.666.034|C23.300.008|C23.888.592.604.646|F03.625.539 Agenesis of the corpus callosum with mental retardation and osseous lesions Congenital abnormality|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Kozlowski Rafinski Klicharska syndrome MESH:C537509 MESH:D001848|MESH:D002386|MESH:D006130|MESH:D008607|MESH:D011596|MESH:D019066 C05.116.099/C537509|C10.597.606.360/C537509|C10.597.606.881/C537509|C11.510.245/C537509|C23.550.291.812/C537509|C23.550.393/C537509|C23.888.592.604.646/C537509|C23.888.592.604.882/C537509|F03.625.539/C537509 C05.116.099|C10.597.606.360|C10.597.606.881|C11.510.245|C23.550.291.812|C23.550.393|C23.888.592.604.646|C23.888.592.604.882|F03.625.539 Metaphyseal and epiphyseal dysplasia with unusual facies and cataract Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Kozlowski Tsuruta Taki syndrome MESH:C537510 MESH:D010009 C05.116.099.708/C537510|C16.320.728/C537510 C05.116.099.708|C16.320.728 Achondrogenesis-Kozlowski type|Chondrodysplasia, lethal neonatal Genetic disease (inborn)|Musculoskeletal disease Kozlowski Warren Fisher syndrome MESH:C537614 MESH:D001848|MESH:D013796 C05.116.099.343.110.500/C537614|C05.116.099.708.017.500/C537614|C05.116.099/C537614|C05.660.585.984/C537614|C16.131.621.585.984/C537614|C16.320.240.500.500/C537614|C16.614.890/C537614 C05.116.099|C05.116.099.343.110.500|C05.116.099.708.017.500|C05.660.585.984|C16.131.621.585.984|C16.320.240.500.500|C16.614.890 Cloverleaf skull generalised bone dysplasia Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease Krabbe Disease, Atypical, due to Saposin A Deficiency MESH:C567097 OMIM:611722 MESH:D007965 C10.228.140.163.100.362.500/C567097|C10.228.140.163.100.435.825.590/C567097|C10.228.140.695.625.500/C567097|C10.314.400.500/C567097|C16.320.565.189.362.500/C567097|C16.320.565.189.435.825.590/C567097|C16.320.565.398.641.803.585/C567097|C16.320.565.595.554.825.590/C567097|C18.452.132.100.362.500/C567097|C18.452.132.100.435.825.590/C567097|C18.452.584.563.641.803.585/C567097|C18.452.648.189.362.500/C567097|C18.452.648.189.435.825.590/C567097|C18.452.648.398.641.803.585/C567097|C18.452.648.595.554.825.590/C567097 C10.228.140.163.100.362.500|C10.228.140.163.100.435.825.590|C10.228.140.695.625.500|C10.314.400.500|C16.320.565.189.362.500|C16.320.565.189.435.825.590|C16.320.565.398.641.803.585|C16.320.565.595.554.825.590|C18.452.132.100.362.500|C18.452.132.100.435.825.590|C18.452.584.563.641.803.585|C18.452.648.189.362.500|C18.452.648.189.435.825.590|C18.452.648.398.641.803.585|C18.452.648.595.554.825.590 KRBSAPA|Saposin A Deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease Krasnow Qazi syndrome MESH:C537616 MESH:D002311|MESH:D002386 C11.510.245/C537616|C14.280.195.160/C537616|C14.280.238.070/C537616|C16.320.488.750/C537616 C11.510.245|C14.280.195.160|C14.280.238.070|C16.320.488.750 Krasnow Qazi Yermakov syndrome Cardiovascular disease|Eye disease|Genetic disease (inborn) Krause-Kivlin syndrome MESH:C537617 OMIM:261540 MESH:D002971|MESH:D006130|MESH:D017880 C05.660.585/C537617|C07.465.409.225/C537617|C07.465.525.164/C537617|C07.650.525.164/C537617|C16.131.621.585/C537617|C16.131.850.525.164/C537617|C23.550.393/C537617 C05.660.585|C07.465.409.225|C07.465.525.164|C07.650.525.164|C16.131.621.585|C16.131.850.525.164|C23.550.393 KRAUSE-KIVLIN SYNDROME|Krause-Van Schooneveld-Kivlin Syndrome|Peters Anomaly-Short Limb Dwarfism Syndrome|Peters anomaly with short limb dwarfism|Peters Anomaly With Short-Limb Dwarfism|Peters-plus syndrome|Peters Plus Syndrome|Peters' Plus Syndrome|Peters'-Plus Syndrome|PTRPLS Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process) Krauss Herman Holmes syndrome MESH:C537618 MESH:D000015|MESH:D005530|MESH:D006972|MESH:D013285|MESH:D016569 C05.116.099.370.231.480/C537618|C05.330/C537618|C05.660.207.231.480/C537618|C10.292.562.887/C537618|C11.250.090/C537618|C11.338.190/C537618|C11.590.810/C537618|C16.131.077/C537618|C16.131.384.190/C537618|C16.131.621.207.231.480/C537618 C05.116.099.370.231.480|C05.330|C05.660.207.231.480|C10.292.562.887|C11.250.090|C11.338.190|C11.590.810|C16.131.077|C16.131.384.190|C16.131.621.207.231.480 Telecanthus, hypertelorism, strabismus, and pes cavus syndrome Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease Krieble Bixler syndrome MESH:C537619 MESH:D000015|MESH:D016569 C11.250.090/C537619|C11.338.190/C537619|C16.131.077/C537619|C16.131.384.190/C537619 C11.250.090|C11.338.190|C16.131.077|C16.131.384.190 Autosomal dominant blepharophimosis with multiple congenital anomalies Congenital abnormality|Eye disease Krukenberg Tumor MESH:D007725 DO:DOID:9597 Mucocellular carcinoma of the ovary, usually metastatic from the gastrointestinal tract, characterized by areas of mucoid degeneration and the presence of signet-ring-like cells. It accounts for 30%-40% of metastatic cancers to the ovaries and possibly 1%-2% of all malignant ovarian tumors. The lesions may not be discovered until the primary disease is advanced, and most patients die of their disease within a year. In some cases, a primary tumor is not found. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1685) MESH:D018279 C04.557.470.200.025.415.410|C04.557.470.590.415.410 C04.557.470.200.025.415|C04.557.470.590.415 Carcinoma, Krukenberg|Krukenberg Carcinoma|Krukenberg's Tumor|Krukenbergs Tumor|Tumor, Krukenberg|Tumor, Krukenberg's Cancer Kufor-Rakeb syndrome MESH:C537177 DO:DOID:0060556|OMIM:606693 MESH:D020734 C10.228.140.079.862/C537177|C10.228.662.600/C537177 C10.228.140.079.862|C10.228.662.600 KRPPD|KRPPD Kufor Rakeb pallidopyramidal degeneration with supranuclear upgaze paresis and dementia|KRS|Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia|PARK9|Parkinson disease 9|PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET Nervous system disease Kuru MESH:D007729 DO:DOID:648|OMIM:245300 A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) MESH:D017096 C01.207.800.435|C10.228.228.800.435|C10.574.843.625 C01.207.800|C10.228.228.800|C10.574.843 Encephalopathy, Kuru|Kuru Encephalopathy|KURU, SUSCEPTIBILITY TO Nervous system disease Kuskokwim disease MESH:C538124 MESH:D001176 C05.550.150/C538124|C05.651.102/C538124|C05.660.077/C538124|C16.131.621.077/C538124 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Arthrogryposis-like disorder Congenital abnormality|Musculoskeletal disease Kuster Majewski Hammerstein syndrome MESH:C538125 MESH:D000505|MESH:D003317|MESH:D006130 C11.204.236/C538125|C11.270.162/C538125|C16.320.290.162/C538125|C17.800.329.937.122/C538125|C23.300.035/C538125|C23.550.393/C538125 C11.204.236|C11.270.162|C16.320.290.162|C17.800.329.937.122|C23.300.035|C23.550.393 Alopecia, macular degeneration, and growth retardation|Alopecia macular degeneration growth retardation Eye disease|Genetic disease (inborn)|Pathology (anatomical condition)|Pathology (process)|Skin disease Kuster syndrome MESH:C538126 MESH:D002971|MESH:D002972|MESH:D017880 C05.500.460.185/C538126|C05.660.207.540.460.185/C538126|C05.660.585/C538126|C07.320.440.185/C538126|C07.465.409.225/C538126|C07.465.525.164/C538126|C07.465.525.185/C538126|C07.650.500.460.185/C538126|C07.650.525.164/C538126|C07.650.525.185/C538126|C16.131.621.207.540.460.185/C538126|C16.131.621.585/C538126|C16.131.850.500.460.185/C538126|C16.131.850.525.164/C538126|C16.131.850.525.185/C538126 C05.500.460.185|C05.660.207.540.460.185|C05.660.585|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.621.585|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Congenital abnormality|Mouth disease|Musculoskeletal disease Kuzniecky syndrome MESH:C538091 MESH:D004827|MESH:D008607|MESH:D054082 C10.228.140.490/C538091|C10.500.507.450.499/C538091|C10.597.606.360/C538091|C16.131.666.507.450.499/C538091|C23.888.592.604.646/C538091|F03.625.539/C538091 C10.228.140.490|C10.500.507.450.499|C10.597.606.360|C16.131.666.507.450.499|C23.888.592.604.646|F03.625.539 Pachygyria, mental retardation and epilepsy|Pachygyria with mental retardation and seizures Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms Kwashiorkor MESH:D007732 DO:DOID:13579 A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed) MESH:D000067011 C18.654.521.719.500 C18.654.521.719 Kwashiorkors Nutrition disorder Kyasanur Forest Disease MESH:D007733 DO:DOID:11320 Tick-borne flavivirus infection occurring in the Kyasanur Forest in India. MESH:D001102|MESH:D006482|MESH:D017282|MESH:D018177 C01.920.930.475|C01.925.081.656|C01.925.782.350.250.635|C01.925.782.417.475 C01.920.930|C01.925.081|C01.925.782.350.250|C01.925.782.417 Kyasanur Forest Disease Virus Infection Viral disease Kyphomelic dysplasia MESH:C538128 MESH:D000015|MESH:D001848 C05.116.099/C538128|C16.131.077/C538128 C05.116.099|C16.131.077 Bowing, congenital, with short bones Congenital abnormality|Musculoskeletal disease Kyphoscoliosis 1 MESH:C565711 OMIM:610170 MESH:D007738|MESH:D012600 C05.116.900.800.500/C565711|C05.116.900.800.875/C565711 C05.116.900.800.500|C05.116.900.800.875 KYPSC1 Musculoskeletal disease Kyphosis MESH:D007738 Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback. MESH:D013121 C05.116.900.800.500 C05.116.900.800 Hyperkyphoses|Hyperkyphosis|Kyphoses Musculoskeletal disease Kyrle disease MESH:C538130 MESH:D007644 C16.320.850.190/C538130|C17.800.428.275/C538130|C17.800.827.190/C538130 C16.320.850.190|C17.800.428.275|C17.800.827.190 Hyperkeratosis follicularis et parafollicularis in cutem penetrans|Kyrle's disease Genetic disease (inborn)|Skin disease Laboratory Infection MESH:D007757 Accidentally acquired infection in laboratory workers. MESH:D007239|MESH:D009784 C01.503|C24.506 C01|C24 Infection, Laboratory|Infections, Laboratory|Laboratory Infections Occupational disease Labor Pain MESH:D048949 Pain associated with OBSTETRIC LABOR in CHILDBIRTH. It is caused primarily by UTERINE CONTRACTION as well as pressure on the CERVIX; BLADDER; and the GASTROINTESTINAL TRACT. Labor pain mostly occurs in the ABDOMEN; the GROIN; and the BACK. MESH:D010146 C23.888.592.612.451 C23.888.592.612 Obstetric Pain|Pain, Labor|Pain, Obstetric Signs and symptoms Labyrinth Diseases MESH:D007759 DO:DOID:2952 Pathological processes of the inner ear (LABYRINTH) which contains the essential apparatus of hearing (COCHLEA) and balance (SEMICIRCULAR CANALS). MESH:D004427 C09.218.568 C09.218 Ear Disease, Inner|Ear Diseases, Inner|Inner Ear Disease|Inner Ear Diseases|Labyrinth Disease Ear-nose-throat disease Labyrinthitis MESH:D007762 DO:DOID:1468 Inflammation of the inner ear (LABYRINTH). MESH:D007759|MESH:D010031 C09.218.568.558|C09.218.705.371 C09.218.568|C09.218.705 Labyrinthitides|Otitis Interna Ear-nose-throat disease Lacerations MESH:D022125 Torn, ragged, mangled wounds. MESH:D014947 C26.540 C26 Laceration Wounds and injuries Lachiewicz Sibley syndrome MESH:C538131 MESH:D004427|MESH:D005402|MESH:D007674 C09.218/C538131|C12.050.351.968.419/C538131|C12.200.777.419/C538131|C12.950.419/C538131|C23.300.575/C538131 C09.218|C12.050.351.968.419|C12.200.777.419|C12.950.419|C23.300.575 Hereditary renal disease and preauricular pits Ear-nose-throat disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Lacrimal Apparatus Diseases MESH:D007766 DO:DOID:13757|DO:DOID:1400 Diseases of the LACRIMAL APPARATUS. MESH:D005128 C11.496 C11 Apparatus Disease, Lacrimal|Apparatus Diseases, Lacrimal|Disease, Lacrimal Apparatus|Diseases, Lacrimal Apparatus|Epiphora|Epiphoras|Lacrimal Apparatus Disease Eye disease Lacrimal Duct Obstruction MESH:D007767 DO:DOID:13929|OMIM:149700 Interference with the secretion of tears by the lacrimal glands. Obstruction of the LACRIMAL SAC or NASOLACRIMAL DUCT causing acute or chronic inflammation of the lacrimal sac (DACRYOCYSTITIS). It is caused also in infants by failure of the nasolacrimal duct to open into the inferior meatus and occurs about the third week of life. In adults occlusion may occur spontaneously or after injury or nasal disease. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p250) MESH:D007766 C11.496.456 C11.496 Duct Obstruction, Lacrimal|Duct Obstruction, Nasolacrimal|Duct Obstruction, Tear|LACRIMAL DUCT DEFECT|Lacrimal Duct Obstructions|LACRIMAL PUNCTA, ABSENCE OF|LCDD|Nasolacrimal Duct Obstruction|Nasolacrimal Duct Obstructions|Obstruction, Lacrimal Duct|Obstruction, Nasolacrimal Duct|Obstruction, Tear Duct|Tear Duct Obstruction|Tear Duct Obstructions Eye disease Lacrimal Puncta, Absence of MESH:C566703 MESH:D007766 C11.496/C566703 C11.496 Eye disease Lacrimoauriculodentodigital syndrome MESH:C538132 OMIM:149730 MESH:D000015|MESH:D007766|MESH:D013576|MESH:D014071|MESH:D034381 C05.116.099.370.894.819/C538132|C05.660.585.800/C538132|C05.660.906.819/C538132|C07.650.800/C538132|C07.793.700/C538132|C09.218.458.341/C538132|C10.597.751.418.341/C538132|C11.496/C538132|C16.131.077/C538132|C16.131.621.585.800/C538132|C16.131.621.906.819/C538132|C16.131.850.800/C538132|C23.888.592.763.393.341/C538132 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C07.650.800|C07.793.700|C09.218.458.341|C10.597.751.418.341|C11.496|C16.131.077|C16.131.621.585.800|C16.131.621.906.819|C16.131.850.800|C23.888.592.763.393.341 LACRIMOAURICULODENTODIGITAL SYNDROME|LACRIMOAURICULODENTODIGITAL SYNDROME 1|LADD|LADD1|LADD1 SYNDROME|LADD SYNDROME|Levy Hollister syndrome|Levy-Hollister Syndrome Congenital abnormality|Ear-nose-throat disease|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Lactase Deficiency, Congenital MESH:C562600 DO:DOID:0111646|OMIM:223000 MESH:D002239 C16.320.565.202/C562600|C18.452.648.202/C562600 C16.320.565.202|C18.452.648.202 Alactasia, Congenital|Disaccharide Intolerance II Genetic disease (inborn)|Metabolic disease Lactate Dehydrogenase B Deficiency MESH:C563641 OMIM:614128 MESH:D008661 C16.320.565/C563641|C18.452.648/C563641 C16.320.565|C18.452.648 LDHBD Genetic disease (inborn)|Metabolic disease Lactate Dehydrogenase Deficiency MESH:C580233 MESH:D002239 C16.320.565.202/C580233|C18.452.648.202/C580233 C16.320.565.202|C18.452.648.202 Deficiency of Lactate Dehydrogenase|Lactate Dehydrogenase Subunit Deficiencies|Ldh Deficiency Genetic disease (inborn)|Metabolic disease Lactate dehydrogenase deficiency type A MESH:C538133 OMIM:612933 MESH:D006008 C16.320.565.202.449/C538133|C18.452.648.202.449/C538133 C16.320.565.202.449|C18.452.648.202.449 GLYCOGEN STORAGE DISEASE XI|GSD11|GSD XI|Lactate Dehydrogenase A Deficiency Genetic disease (inborn)|Metabolic disease Lactation Disorders MESH:D007775 Disturbances of MILK secretion in either SEX, not necessarily related to PREGNANCY. MESH:D001941|MESH:D011644 C12.050.703.844.506|C17.800.090.937 C12.050.703.844|C17.800.090 Disorder, Lactation|Disorders, Lactation|Hypogalactia|Hypogalactias|Lactation Disorder Pregnancy complication|Skin disease Lactic Acidosis, Chronic Adult Form MESH:C563640 MESH:D000140 C18.452.076.176.180/C563640 C18.452.076.176.180 Metabolic disease Lactic acidosis congenital infantile MESH:C538134 MESH:D000140 C18.452.076.176.180/C538134 C18.452.076.176.180 Metabolic disease Lactic Acidosis, Congenital Infantile, Due To LAD Deficiency MESH:C573012 OMIM:246900 MESH:D000140|MESH:D008375 C10.228.140.163.100.520/C573012|C16.320.565.100.608/C573012|C16.320.565.189.520/C573012|C18.452.076.176.180/C573012|C18.452.132.100.520/C573012|C18.452.648.100.608/C573012|C18.452.648.189.520/C573012 C10.228.140.163.100.520|C16.320.565.100.608|C16.320.565.189.520|C18.452.076.176.180|C18.452.132.100.520|C18.452.648.100.608|C18.452.648.189.520 Dihydrolipoamide Dehydrogenase Deficiency|DLDD|DLD Deficiency|E3 DEFICIENCY|Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to|Maple Syrup Urine Disease, Type III Genetic disease (inborn)|Metabolic disease|Nervous system disease Lactic Acidosis, Fatal Infantile MESH:C566885 MESH:D000140 C18.452.076.176.180/C566885 C18.452.076.176.180 Metabolic disease Lactic Aciduria due to D-Lactic Acid MESH:C565446 MESH:D008661 C16.320.565/C565446|C18.452.648/C565446 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Lactose Intolerance MESH:D007787 DO:DOID:10604 The condition resulting from the absence or deficiency of LACTASE in the MUCOSA cells of the GASTROINTESTINAL TRACT, and the inability to break down LACTOSE in milk for ABSORPTION. Bacterial fermentation of the unabsorbed lactose leads to symptoms that range from a mild indigestion (DYSPEPSIA) to severe DIARRHEA. Lactose intolerance may be an inborn error or acquired. MESH:D002239|MESH:D008286 C06.405.469.637.506|C16.320.565.202.589|C18.452.603.506|C18.452.648.202.589 C06.405.469.637|C16.320.565.202|C18.452.603|C18.452.648.202 Alactasia|Dairy Product Intolerance|Hypolactasia|Intolerance, Lactose|Lactose Malabsorption|Malabsorption, Lactose|Milk Sugar Intolerance Digestive system disease|Genetic disease (inborn)|Metabolic disease Lactose Intolerance, Adult Type MESH:C562601 OMIM:223100 MESH:D007787 C06.405.469.637.506/C562601|C16.320.565.202.589/C562601|C18.452.603.506/C562601|C18.452.648.202.589/C562601 C06.405.469.637.506|C16.320.565.202.589|C18.452.603.506|C18.452.648.202.589 Adult Lactase Deficiency|Disaccharide Intolerance III|DISACCHARIDE INTOLERANCE III LACTASE PERSISTENCE, INCLUDED|Hypolactasia, Adult Type Digestive system disease|Genetic disease (inborn)|Metabolic disease Ladda Zonana Ramer syndrome MESH:C538135 MESH:D001176|MESH:D002972|MESH:D004476|MESH:D006130 C05.500.460.185/C538135|C05.550.150/C538135|C05.651.102/C538135|C05.660.077/C538135|C05.660.207.540.460.185/C538135|C07.320.440.185/C538135|C07.465.525.185/C538135|C07.650.500.460.185/C538135|C07.650.525.185/C538135|C16.131.077.350/C538135|C16.131.621.077/C538135|C16.131.621.207.540.460.185/C538135|C16.131.831.350/C538135|C16.131.850.500.460.185/C538135|C16.131.850.525.185/C538135|C16.320.850.250/C538135|C17.800.804.350/C538135|C17.800.827.250/C538135|C23.550.393/C538135 C05.500.460.185|C05.550.150|C05.651.102|C05.660.077|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.077.350|C16.131.621.077|C16.131.621.207.540.460.185|C16.131.831.350|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.550.393 Arthrogryposis, ectodermal dysplasia, cleft lip palate and developmental delay|Congenital contractures, ectodermal dysplasia, cleft lip-palate, and developmental impairment Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Pathology (process)|Skin disease Lafora Disease MESH:D020192 DO:DOID:3534|OMIM:254780 A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110). MESH:D020191|MESH:D020271 C10.228.140.490.375.130.650.500|C10.228.140.490.493.063.650.500|C10.574.500.529|C16.320.400.480 C10.228.140.490.375.130.650|C10.228.140.490.493.063.650|C10.574.500|C16.320.400 Epilepsy Progressive Myoclonic 2|Epilepsy, Progressive Myoclonic 2A|EPILEPSY, PROGRESSIVE MYOCLONIC, 2A|Epilepsy, Progressive Myoclonic, Lafora|EPM2A|EPM2B, INCLUDED|EPM2 EPILEPSY, PROGRESSIVE MYOCLONIC, 2B, INCLUDED|Lafora Body Disease|Lafora Body Disease, Late Onset|Lafora-Body Disease, Late Onset|Lafora Body Disorder|LAFORA DISEASE|Lafora Myoclonic Epilepsy|Lafora Progressive Myoclonic Epilepsy|Lafora Progressive Myoclonus Epilepsy|Lafora Type Progressive Myoclonic Epilepsy|Late Onset Lafora Body Disease|LBD|MELF|Myoclonic Epilepsy of Lafora|Progressive Myoclonic Epilepsy, Lafora|Progressive Myoclonic Epilepsy, Lafora Type|Progressive Myoclonic Epilepsy Type 2|Progressive Myoclonus Epilepsy, Lafora Type Genetic disease (inborn)|Nervous system disease Lagophthalmos MESH:D000092164 DO:DOID:12958|DO:DOID:12959|DO:DOID:13038 Inability to close eyelids completely. MESH:D005132|MESH:D005141 C11.300.750|C11.338.714 C11.300|C11.338 Blink Lagophthalmos|Cicatricial Lagophthalmos|Iatrogenic Lagophthalmos|Lagophthalmos, Blink|Lagophthalmos, Cicatricial|Lagophthalmos, Iatrogenic|Lagophthalmos, Nocturnal|Lagophthalmos, Paralytic|Nocturnal Lagophthalmos|Paralytic Lagophthalmos Eye disease Lambert-Eaton Myasthenic Syndrome MESH:D015624 DO:DOID:0050214 An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471) MESH:D009157 C04.588.614.550.500.225|C04.730.856.490.225|C10.114.656.150|C10.574.781.588.225|C10.668.758.725.150|C20.111.258.500.150 C04.588.614.550.500|C04.730.856.490|C10.114.656|C10.574.781.588|C10.668.758.725|C20.111.258.500 Eaton-Lambert Myasthenic-Myopathic Syndrome|Eaton Lambert Myasthenic Syndrome|Eaton-Lambert Myasthenic Syndrome|Eaton-Lambert Myopathic-Myasthenic Syndrome|Eaton-Lambert Myopathic-Myasthenic Syndromes|Eaton Lambert Syndrome|Eaton-Lambert Syndrome|Lambert-Eaton Myasthenic-Myopathic Syndrome|Lambert-Eaton Myasthenic-Myopathic Syndromes|Lambert Eaton Myasthenic Syndrome|Lambert-Eaton Myopathic-Myasthenic Syndrome|Lambert-Eaton Myopathic-Myasthenic Syndromes|Lambert Eaton Syndrome|Lambert-Eaton Syndrome|Myasthenic Myopathic Syndrome of Eaton Lambert|Myasthenic-Myopathic Syndrome of Eaton-Lambert|Myasthenic Myopathic Syndrome of Lambert Eaton|Myasthenic-Myopathic Syndrome of Lambert-Eaton|Myasthenic Syndrome, Eaton-Lambert|Myasthenic Syndrome, Lambert Eaton|Myasthenic Syndrome, Lambert-Eaton|Myopathic Myasthenic Syndrome of Eaton Lambert|Myopathic-Myasthenic Syndrome of Eaton-Lambert|Myopathic-Myasthenic Syndrome of Lambert-Eaton|Syndrome, Eaton-Lambert|Syndrome, Eaton-Lambert Myasthenic|Syndrome, Lambert-Eaton|Syndrome, Lambert-Eaton Myasthenic Cancer|Immune system disease|Nervous system disease Lambert syndrome MESH:C538396 MESH:D001656|MESH:D003025|MESH:D006552|MESH:D008607 C05.330.488.655.063/C538396|C05.330.495.681.063/C538396|C05.660.585.512.380.813.063/C538396|C06.130.120.123/C538396|C06.198.125/C538396|C10.597.606.360/C538396|C16.131.314.125/C538396|C16.131.621.585.512.500.681.063/C538396|C23.300.707.374.875/C538396|C23.888.592.604.646/C538396|F03.625.539/C538396 C05.330.488.655.063|C05.330.495.681.063|C05.660.585.512.380.813.063|C06.130.120.123|C06.198.125|C10.597.606.360|C16.131.314.125|C16.131.621.585.512.500.681.063|C23.300.707.374.875|C23.888.592.604.646|F03.625.539 Branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia Congenital abnormality|Digestive system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Lambotte syndrome MESH:C537549 MESH:D005317|MESH:D008831|MESH:D016142 C05.660.207.410/C537549|C05.660.207.620/C537549|C10.500.034.875/C537549|C10.500.507.400.500/C537549|C12.050.703.277.370/C537549|C16.131.077.410/C537549|C16.131.260.380/C537549|C16.131.621.207.410/C537549|C16.131.621.207.620/C537549|C16.131.666.034.875/C537549|C16.131.666.507.400.500/C537549|C16.300.390/C537549|C16.320.180.380/C537549|C23.550.393.450/C537549 C05.660.207.410|C05.660.207.620|C10.500.034.875|C10.500.507.400.500|C12.050.703.277.370|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.621.207.620|C16.131.666.034.875|C16.131.666.507.400.500|C16.300.390|C16.320.180.380|C23.550.393.450 Microcephaly, holoprosencephaly, and intrauterine growth retardation Congenital abnormality|Fetal disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Pregnancy complication LAMB-SHAFFER SYNDROME OMIM:616803 MESH:D002658|MESH:D007805|MESH:D008607 C10.597.606.150.500.550/616803|C10.597.606.360/616803|C23.888.592.604.150.500.550/616803|C23.888.592.604.646/616803|F03.625.421/616803|F03.625.539/616803 C10.597.606.150.500.550|C10.597.606.360|C23.888.592.604.150.500.550|C23.888.592.604.646|F03.625.421|F03.625.539 LAMSHF Mental disorder|Nervous system disease|Signs and symptoms Lamellar ichthyosis, autosomal dominant form MESH:C537263 MESH:D017490 C16.131.831.512.400.410/C537263|C16.320.850.400.410/C537263|C16.614.492.400.410/C537263|C17.800.428.333.250.410/C537263|C17.800.804.512.400.410/C537263|C17.800.827.400.410/C537263 C16.131.831.512.400.410|C16.320.850.400.410|C16.614.492.400.410|C17.800.428.333.250.410|C17.800.804.512.400.410|C17.800.827.400.410 Autosomal-dominant lamellar ichthyosis|Ichthyosiform erythroderma, nonbullous, dominant form|Ichthyosis, Lamellar, Autosomal Dominant|Lamellar Ichthyosis, Autosomal Dominant|Lamellar ichthyosis, dominant Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Lamellar ichthyosis, type 2 MESH:C537264 OMIM:601277 MESH:D017490 C16.131.831.512.400.410/C537264|C16.320.850.400.410/C537264|C16.614.492.400.410/C537264|C17.800.428.333.250.410/C537264|C17.800.804.512.400.410/C537264|C17.800.827.400.410/C537264 C16.131.831.512.400.410|C16.320.850.400.410|C16.614.492.400.410|C17.800.428.333.250.410|C17.800.804.512.400.410|C17.800.827.400.410 ARCI4A|Ichthyosis congenita 2B|Ichthyosis Congenita Iib|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A|Ichthyosis lamellar 2|Ichthyosis, Lamellar, 2|ICHTHYOSIS, LAMELLAR, 2, FORMERLY|ICR2B|LI2, FORMERLY|Type 2 lamellar ichthyosis Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Lamellar ichthyosis, type 3 MESH:C537265 OMIM:604777 MESH:D017490 C16.131.831.512.400.410/C537265|C16.320.850.400.410/C537265|C16.614.492.400.410/C537265|C17.800.428.333.250.410/C537265|C17.800.804.512.400.410/C537265|C17.800.827.400.410/C537265 C16.131.831.512.400.410|C16.320.850.400.410|C16.614.492.400.410|C17.800.428.333.250.410|C17.800.804.512.400.410|C17.800.827.400.410 ARCI5|Ichthyosis congenita 3|Ichthyosis Congenita III|ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5|Ichthyosis lamellar 3|Ichthyosis, Lamellar, 3|ICHTHYOSIS, LAMELLAR, 3, FORMERLY|ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMAL RECESSIVE|LI3, FORMERLY|NNCI|Type 3 lamellar ichthyosis Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Lameness, Animal MESH:D007794 A departure from the normal gait in animals. MESH:D000820 C22.510 C22 Animal Gait Disorder|Animal Gait Disorders|Animal Lameness|Animal Lamenesses|Disorder, Animal Gait|Disorders, Animal Gait|Gait Disorder, Animal|Gait Disorders, Animal|Lamenesses, Animal Animal disease Laminopathies MESH:D000083083 Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type. MESH:D030342 C16.320.488 C16.320 Disease, LMNA-Associated|Disease, LMNA-Linked|Laminopathy|LMNA-Associated Disease|LMNA Associated Diseases|LMNA-Associated Diseases|LMNA-Linked Disease|LMNA Linked Diseases|LMNA-Linked Diseases Genetic disease (inborn) Landau-Kleffner Syndrome MESH:D018887 DO:DOID:2538 A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495). MESH:D000073376 C10.228.140.490.493.500 C10.228.140.490.493 Acquired Aphasia with Convulsive Disorder|Acquired Childhoood Aphasia with Convulsive Disorder|Acquired Epileptic Aphasia|Acquired Epileptic Aphasias|Acquired Epileptiform Aphasia|Acquired Epileptiform Aphasias|Aphasia, Acquired Epileptic|Aphasia, Acquired, With Convulsive Disorder|Aphasia, Epileptic, Acquired|Epileptic Aphasia, Acquired|Epileptic Aphasias, Acquired|Epileptiform Aphasia, Acquired|Epileptiform Aphasias, Acquired|Landau Kleffner Acquired Epileptiform Aphasia|Landau-Kleffner Acquired Epileptiform Aphasia|Landau Kleffner Syndrome|Syndrome, Landau-Kleffner Nervous system disease Landy Donnai syndrome MESH:C537266 MESH:D004487|MESH:D013576 C05.116.099.370.894.819/C537266|C05.660.585.800/C537266|C05.660.906.819/C537266|C16.131.621.585.800/C537266|C16.131.621.906.819/C537266|C23.888.277/C537266 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819|C23.888.277 Hydrops, ectrodactyly, syndactyly, duplication of the great toes Congenital abnormality|Musculoskeletal disease|Signs and symptoms Langer-Giedion Syndrome MESH:D015826 DO:DOID:4998|OMIM:150230 Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE). MESH:D010009 C05.116.099.708.582 C05.116.099.708 Acrodysplasia V|Acrodysplasia Vs|CHROMOSOME 8q24.1 DELETION SYNDROME|Giedion Langer Syndrome|Giedion-Langer Syndrome|Langer Giedion Syndrome|LANGER-GIEDION SYNDROME|LGS|Syndrome, Giedion-Langer|Syndrome, Langer-Giedion|Trichorhinophalangeal Syndrome Type 2|Trichorhinophalangeal Syndrome Type II|Trichorhinophalangeal Syndrome, Type II|Tricho Rhino Phalangeal Syndrome Type II|Tricho-Rhino-Phalangeal Syndrome Type II|Trichorhinophalangeal Syndrome with Exostoses|TRPS2|TRPSII Musculoskeletal disease Langerhans Cell Sarcoma MESH:D054752 DO:DOID:7146 Rare malignant neoplasm of dendritic LANGERHANS CELLS exhibiting atypical cytology, frequent mitoses, and aggressive clinical behavior. They can be distinguished from other histiocytic and dendritic proliferations by immunohistochemical and ultrastructure studies. Cytologically benign proliferations of Langerhans cells are called LANGERHANS CELL HISTIOCYTOSIS. MESH:D015620 C04.557.227.500|C15.604.250.390.500 C04.557.227|C15.604.250.390 Langerhans Cell Sarcomas|Sarcoma, Langerhans Cell|Sarcomas, Langerhans Cell Cancer|Lymphatic disease Langer mesomelic dysplasia MESH:C537267 OMIM:249700 MESH:D006130|MESH:D010009 C05.116.099.708/C537267|C16.320.728/C537267|C23.550.393/C537267 C05.116.099.708|C16.320.728|C23.550.393 Dyschondrosteosis, homozygous|Dyschondrosteosis Homozygous|Langer Mesomelic Dwarfism|Langer mesomelic dyspalsia|Langer type of mesomelic dwarfism|LMD|Mesomelic dwarfism Langer type|Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Language Development Disorders MESH:D007805 Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors. MESH:D007806 C10.597.606.150.500.550|C23.888.592.604.150.500.550 C10.597.606.150.500|C23.888.592.604.150.500 Auditory Processing Disorder, Central|Central Auditory Processing Disorder|Delay, Speech|Delays, Speech|Developmental Disorder, Speech or Language|Developmental Language Disorder|Developmental Language Disorders|Development Disorder, Language|Disorder, Language Development|Disorders, Language Development|Language Delay|Language Delays|Language Development Disorder|Language Disorder, Developmental|Language Disorders, Developmental|Semantic Pragmatic Disorder|Semantic-Pragmatic Disorder|Semantic-Pragmatic Disorders|Speech Delay|Speech Delays|Speech or Language, Developmental Disorder Nervous system disease|Signs and symptoms Language Disorders MESH:D007806 DO:DOID:93 Conditions characterized by deficiencies of comprehension or expression of written and spoken forms of language. These include acquired and developmental disorders. MESH:D003147 C10.597.606.150.500|C23.888.592.604.150.500 C10.597.606.150|C23.888.592.604.150 Acquired Language Disorder|Acquired Language Disorders|Language Disorder|Language Disorder, Acquired|Language Disorders, Acquired Nervous system disease|Signs and symptoms Laplane Fontaine Lagardere syndrome MESH:C537869 MESH:D004392|MESH:D007592|MESH:D010009|MESH:D013122 C05.116.099.343/C537869|C05.116.099.708/C537869|C05.116.900/C537869|C05.550/C537869|C16.320.240/C537869|C16.320.728/C537869|C19.297/C537869 C05.116.099.343|C05.116.099.708|C05.116.900|C05.550|C16.320.240|C16.320.728|C19.297 Familial syndesmodysplasic dwarfism|Syndesmodysplasic Dwarfism Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Laron Syndrome MESH:D046150 DO:DOID:9521|OMIM:262500 An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5. MESH:D004392 C05.116.099.343.679|C16.320.240.750|C19.297.656 C05.116.099.343|C16.320.240|C19.297 Dwarfism II, Pituitary|Dwarfism IIs, Pituitary|Dwarfism, Laron|GH Resistance, Primary|Growth Hormone Insensitivity Syndrome|Growth Hormone Receptor Defect|Growth Hormone Receptor Deficiency|Laron Dwarfism|Laron Type Dwarfism I|Pituitary Dwarfism II|Pituitary Dwarfism IIs|Primary GH Resistance|Primary Growth Hormone Resistance|Severe GH Insensitivity|Syndrome, Laron Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Laron syndrome type 2 MESH:C537871 OMIM:245590 MESH:D046150 C05.116.099.343.679/C537871|C16.320.240.750/C537871|C19.297.656/C537871 C05.116.099.343.679|C16.320.240.750|C19.297.656 GHISID1|Growth Hormone Insensitivity Due To Postreceptor Defect|GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE|Growth Hormone Insensitivity With Immunodeficiency|Laron syndrome due to postreceptor defect|Laron type dwarfism 2 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Larsen-Like Syndrome MESH:C563914 OMIM:608545 MESH:D000015|MESH:D004204|MESH:D010009|MESH:D019066 C05.116.099.708/C563914|C05.550.518/C563914|C16.131.077/C563914|C16.320.728/C563914|C23.550.291.812/C563914|C26.289/C563914 C05.116.099.708|C05.550.518|C16.131.077|C16.320.728|C23.550.291.812|C26.289 LRSL Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Wounds and injuries Larsen like syndrome, lethal type MESH:C537872 MESH:D000015|MESH:D004204|MESH:D013796 C05.116.099.343.110.500/C537872|C05.116.099.708.017.500/C537872|C05.550.518/C537872|C05.660.585.984/C537872|C16.131.077/C537872|C16.131.621.585.984/C537872|C16.320.240.500.500/C537872|C16.614.890/C537872|C26.289/C537872 C05.116.099.343.110.500|C05.116.099.708.017.500|C05.550.518|C05.660.585.984|C16.131.077|C16.131.621.585.984|C16.320.240.500.500|C16.614.890|C26.289 Larsen-like multiple joint dislocation syndrome|Larsen-Like Syndrome, Lethal Type Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease|Wounds and injuries Larsen Syndrome MESH:C580241 DO:DOID:14764 MESH:D010009 C05.116.099.708/C580241|C16.320.728/C580241 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Larsen syndrome, dominant type MESH:C537873 OMIM:150250 MESH:D002971|MESH:D002972|MESH:D004204|MESH:D010009|MESH:D014071|MESH:D019465 C05.116.099.708/C537873|C05.500.460.185/C537873|C05.550.518/C537873|C05.660.207.540.460.185/C537873|C05.660.207/C537873|C07.320.440.185/C537873|C07.465.409.225/C537873|C07.465.525.164/C537873|C07.465.525.185/C537873|C07.650.500.460.185/C537873|C07.650.525.164/C537873|C07.650.525.185/C537873|C07.650.800/C537873|C07.793.700/C537873|C16.131.621.207.540.460.185/C537873|C16.131.621.207/C537873|C16.131.850.500.460.185/C537873|C16.131.850.525.164/C537873|C16.131.850.525.185/C537873|C16.131.850.800/C537873|C16.320.728/C537873|C26.289/C537873 C05.116.099.708|C05.500.460.185|C05.550.518|C05.660.207|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C07.650.800|C07.793.700|C16.131.621.207|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.131.850.800|C16.320.728|C26.289 LARSEN SYNDROME|Larsen Syndrome, Autosomal Dominant|LRS Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Wounds and injuries Larsen syndrome, recessive type MESH:C537874 MESH:D000015|MESH:D001848|MESH:D004204|MESH:D009139 C05.116.099/C537874|C05.550.518/C537874|C05.660/C537874|C16.131.077/C537874|C16.131.621/C537874|C26.289/C537874 C05.116.099|C05.550.518|C05.660|C16.131.077|C16.131.621|C26.289 Autosomal Recessive Larsen Syndrome|Larsen Syndrome, Recessive Congenital abnormality|Musculoskeletal disease|Wounds and injuries Larva Migrans MESH:D007815 Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in man. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans. MESH:D009349|MESH:D012876 C01.610.335.508.523|C01.610.858.424|C17.800.838.775.424 C01.610.335.508|C01.610.858|C17.800.838.775 Creeping Eruption|Creeping Eruptions|Cutaneous Larva Migrans|Dew Itch|Dew Itchs|Eruption, Creeping|Eruptions, Creeping|Ground Itch|Ground Itchs|Itch, Dew|Itch, Ground|Itchs, Dew|Itchs, Ground|Larva Migrans, Cutaneous|Larva Migrans, Ocular|Ocular Larva Migrans Parasitic disease|Skin disease Larva Migrans, Visceral MESH:D007816 DO:DOID:9790 A condition produced in man by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati. MESH:D007815|MESH:D014120 C01.610.335.508.523.780|C01.610.335.508.700.100.868.420 C01.610.335.508.523|C01.610.335.508.700.100.868 Larva Migran, Visceral|Migrans, Visceral Larva|Migran, Visceral Larva|Visceral Larva Migran|Visceral Larva Migrans|Visceral Larva Migrans Syndrome Parasitic disease Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy MESH:C565252 MESH:D002524|MESH:D011115|MESH:D014826|MESH:D055154 C08.360.931/C565252|C08.360.940.325/C565252|C09.400.931/C565252|C09.400.940.325/C565252|C10.228.140.252.190/C565252|C10.292.887.800/C565252|C10.597.350.090.500/C565252|C10.597.622.943/C565252|C10.597.975.325/C565252|C10.668.829.800/C565252|C23.888.592.350.090.200/C565252|C23.888.592.636.943/C565252|C23.888.592.979.325/C565252 C08.360.931|C08.360.940.325|C09.400.931|C09.400.940.325|C10.228.140.252.190|C10.292.887.800|C10.597.350.090.500|C10.597.622.943|C10.597.975.325|C10.668.829.800|C23.888.592.350.090.200|C23.888.592.636.943|C23.888.592.979.325 Ear-nose-throat disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Laryngeal Adductor Paralysis MESH:C562861 OMIM:150270 MESH:D014826 C08.360.931/C562861|C09.400.931/C562861|C10.292.887.800/C562861|C10.597.622.943/C562861|C23.888.592.636.943/C562861 C08.360.931|C09.400.931|C10.292.887.800|C10.597.622.943|C23.888.592.636.943 LAP|Vocal Cord Dysfunction, Adductor Type Ear-nose-throat disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Laryngeal Atresia, Encephalocele, and Limb Deformities MESH:C564620 MESH:D004677|MESH:D007818|MESH:D017880 C05.660.585/C564620|C08.360/C564620|C09.400/C564620|C10.500.680.488/C564620|C16.131.621.585/C564620|C16.131.666.680.488/C564620|C23.300.707.186/C564620 C05.660.585|C08.360|C09.400|C10.500.680.488|C16.131.621.585|C16.131.666.680.488|C23.300.707.186 Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Respiratory tract disease Laryngeal cleft MESH:C537875 MESH:D000013 C16.131/C537875 C16.131 Anterior submucous laryngeal cleft|Congenital laryngeal clefts|Posterior laryngeal cleft (PLC) Congenital abnormality Laryngeal Diseases MESH:D007818 DO:DOID:786 Pathological processes involving any part of the LARYNX which coordinates many functions such as voice production, breathing, swallowing, and coughing. MESH:D010038|MESH:D012140 C08.360|C09.400 C08|C09 Disease, Laryngeal|Disease, Larynx|Diseases, Laryngeal|Diseases, Larynx|Laryngeal Disease|Laryngeal Perichondritides|Laryngeal Perichondritis|Larynx Disease|Larynx Diseases|Perichondritides, Laryngeal|Perichondritis, Laryngeal Ear-nose-throat disease|Respiratory tract disease Laryngeal Edema MESH:D007819 Abnormal accumulation of fluid in tissues of any part of the LARYNX, commonly associated with laryngeal injuries and allergic reactions. MESH:D007818 C08.360.313|C09.400.313 C08.360|C09.400 Edema, Laryngeal|Edemas, Laryngeal|Laryngeal Edemas Ear-nose-throat disease|Respiratory tract disease Laryngeal Neoplasms MESH:D007822 DO:DOID:2596|DO:DOID:2598 Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS. MESH:D007818|MESH:D010039|MESH:D012142 C04.588.443.665.481|C08.360.369|C08.785.481|C09.400.369|C09.647.481 C04.588.443.665|C08.360|C08.785|C09.400|C09.647 Cancer, Laryngeal|Cancer, Larynx|Cancer of Larynx|Cancer of the Larynx|Cancers, Laryngeal|Cancers, Larynx|Laryngeal Cancer|Laryngeal Cancers|Laryngeal Neoplasm|Larynx Cancer|Larynx Cancers|Larynx Neoplasm|Larynx Neoplasms|Neoplasm, Laryngeal|Neoplasm, Larynx|Neoplasms, Laryngeal|Neoplasms, Larynx Cancer|Ear-nose-throat disease|Respiratory tract disease Laryngeal Nerve Injuries MESH:D061224 Traumatic injuries to the LARYNGEAL NERVE. MESH:D007818|MESH:D061223 C08.360.424|C09.400.424|C10.292.200.937.750|C10.900.300.218.887.750|C26.915.300.400.912.750 C08.360|C09.400|C10.292.200.937|C10.900.300.218.887|C26.915.300.400.912 Avulsion, Laryngeal Nerve|Avulsions, Laryngeal Nerve|Contusion, Laryngeal Nerve|Contusions, Laryngeal Nerve|Injuries, Laryngeal Nerve|Injury, Laryngeal Nerve|Laryngeal Nerve Avulsion|Laryngeal Nerve Avulsions|Laryngeal Nerve Contusion|Laryngeal Nerve Contusions|Laryngeal Nerve Injury|Laryngeal Nerve Transection|Laryngeal Nerve Transections|Laryngeal Nerve Trauma|Laryngeal Nerve Traumas|Laryngeal Neuropathies, Traumatic|Laryngeal Neuropathy, Traumatic|Nerve Avulsion, Laryngeal|Nerve Avulsions, Laryngeal|Nerve Contusion, Laryngeal|Nerve Contusions, Laryngeal|Nerve Injuries, Laryngeal|Nerve Injury, Laryngeal|Nerve Transection, Laryngeal|Nerve Transections, Laryngeal|Nerve Trauma, Laryngeal|Nerve Traumas, Laryngeal|Neuropathies, Traumatic Laryngeal|Neuropathy, Traumatic Laryngeal|Transection, Laryngeal Nerve|Transections, Laryngeal Nerve|Trauma, Laryngeal Nerve|Traumas, Laryngeal Nerve|Traumatic Laryngeal Neuropathies|Traumatic Laryngeal Neuropathy Ear-nose-throat disease|Nervous system disease|Respiratory tract disease|Wounds and injuries Laryngeal papillomatosis MESH:C537876 MESH:D007822|MESH:D010212 C04.557.470.700.600/C537876|C04.588.443.665.481/C537876|C08.360.369/C537876|C08.785.481/C537876|C09.400.369/C537876|C09.647.481/C537876 C04.557.470.700.600|C04.588.443.665.481|C08.360.369|C08.785.481|C09.400.369|C09.647.481 Juvenile laryngeal papillomatosis|Recurrent laryngeal papillomatosis|Warts in the throat Cancer|Ear-nose-throat disease|Respiratory tract disease Laryngeal Web, Familial MESH:C563636 MESH:D000013 C16.131/C563636 C16.131 Glottic Web, Congenital Anterior Congenital abnormality Laryngismus MESH:D007826 A disorder in which the adductor muscles of the VOCAL CORDS exhibit increased activity leading to laryngeal spasm. Laryngismus causes closure of the VOCAL FOLDS and airflow obstruction during inspiration. MESH:D064706 C08.360.895.500|C08.618.980.500|C09.400.895.500 C08.360.895|C08.618.980|C09.400.895 Laryngeal Spasm|Laryngeal Spasms|Laryngospasm|Laryngospasms|Spasm, Laryngeal|Spasms, Laryngeal Ear-nose-throat disease|Respiratory tract disease Laryngitis MESH:D007827 DO:DOID:3437 Inflammation of the LARYNGEAL MUCOSA, including the VOCAL CORDS. Laryngitis is characterized by irritation, edema, and reduced pliability of the mucosa leading to VOICE DISORDERS such as APHONIA and HOARSENESS. MESH:D007818|MESH:D012141 C01.748.368|C08.360.535|C08.730.368|C09.400.535 C01.748|C08.360|C08.730|C09.400 Laryngitides Ear-nose-throat disease|Respiratory tract disease Laryngocele MESH:D059608 Congenital anomalous dilitation of the laryngeal saccule that may extend internally into the airway or externally through the thyrohyoid membrane. MESH:D007818|MESH:D015619 C08.360.549|C08.695.520|C09.400.549|C16.131.740.650 C08.360|C08.695|C09.400|C16.131.740 Laryngoceles Congenital abnormality|Ear-nose-throat disease|Respiratory tract disease Laryngomalacia MESH:D055092 A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain. MESH:D002357|MESH:D007818|MESH:D009139 C05.182.310|C08.360.563|C09.400.563|C16.131.621.568|C17.300.182.310 C05.182|C08.360|C09.400|C16.131.621|C17.300.182 Chondromalacia of Larynx|Laryngomalacias|Larynx Chondromalacia|Larynx Chondromalacias Congenital abnormality|Connective tissue disease|Ear-nose-throat disease|Musculoskeletal disease|Respiratory tract disease Laryngo onycho cutaneous syndrome MESH:C537032 OMIM:245660 MESH:D003229|MESH:D007818 C08.360/C537032|C09.400/C537032|C11.187/C537032 C08.360|C09.400|C11.187 EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS|JEB2C|Laryngeal and ocular granulation in indian children|Laryngoonychocutaneous Syndrome|LOCS|Logic syndrome Ear-nose-throat disease|Eye disease|Respiratory tract disease Laryngopharyngeal Reflux MESH:D057045 Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX. MESH:D005764|MESH:D007818 C06.405.117.119.500.484.500|C08.360.577 C06.405.117.119.500.484|C08.360 Gastric Reflux, Supraesophageal|Gastric Reflux, Supraesophageal (SEGR)|Gastric Regurgitation|Reflux, Laryngopharyngeal|Reflux, Supraesophageal Gastric|Reflux, Supraesophageal Gastric (SEGR)|Regurgitation, Gastric|Supraesophageal Gastric Reflux|Supraesophageal Gastric Reflux (SEGR) Digestive system disease|Respiratory tract disease Laryngostenosis MESH:D007829 DO:DOID:11527 Developmental or acquired stricture or narrowing of the LARYNX. Symptoms of respiratory difficulty depend on the degree of laryngeal narrowing. MESH:D007818|MESH:D015619 C08.360.591|C09.400.591|C16.131.740.658 C08.360|C09.400|C16.131.740 Acquired Laryngeal Stenoses|Acquired Laryngeal Stenosis|Acquired Subglottic Stenoses|Acquired Subglottic Stenosis|Congenital Subglottic Stenoses|Congenital Subglottic Stenosis|Laryngeal Stenoses|Laryngeal Stenoses, Acquired|Laryngeal Stenosis|Laryngeal Stenosis, Acquired|Laryngostenoses|Stenoses, Acquired Laryngeal|Stenoses, Acquired Subglottic|Stenoses, Congenital Subglottic|Stenoses, Laryngeal|Stenosis, Acquired Laryngeal|Stenosis, Acquired Subglottic|Stenosis, Congenital Subglottic|Stenosis, Laryngeal|Subglottic Stenoses, Acquired|Subglottic Stenoses, Congenital|Subglottic Stenosis, Acquired|Subglottic Stenosis, Congenital Congenital abnormality|Ear-nose-throat disease|Respiratory tract disease Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy MESH:C566379 MESH:D003251|MESH:D006130|MESH:D007592 C05.550/C566379|C23.300.287/C566379|C23.550.393/C566379 C05.550|C23.300.287|C23.550.393 Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process) Larynx, Congenital Partial Atresia of MESH:C563637 MESH:D007818 C08.360/C563637|C09.400/C563637 C08.360|C09.400 Ear-nose-throat disease|Respiratory tract disease Lassa Fever MESH:D007835 DO:DOID:9537 An acute febrile human disease caused by the LASSA VIRUS. MESH:D001117|MESH:D006482 C01.925.782.082.545|C01.925.782.417.505 C01.925.782.082|C01.925.782.417 Fever, Lassa|Infection, Lassa Virus|Lassa Fevers|Lassa Virus Infection|Lassa Virus Infections|Virus Infection, Lassa Viral disease latah syndrome MESH:C000711648 MESH:D013001 F03.875/C000711648 F03.875 jumping Frenchmen of Maine|myriachit Mental disorder Latent Autoimmune Diabetes in Adults MESH:D000071698 DO:DOID:0080846 Autoimmune diabetes in adults with slowly progressive PANCREATIC BETA CELL failure and the presence of circulating autoantibodies to PANCREATIC ISLETS cell antigens. MESH:D001327|MESH:D003920 C18.452.394.750.714|C19.246.656|C20.111.576 C18.452.394.750|C19.246|C20.111 Diabetes Mellitus Type 1.5|Diabetes, Type 1.5|LADA, Latent Autoimmune Diabetes in Adults|Latent Autoimmune Diabetes of Adults|Type 1.5 Diabetes|Type 1.5 Diabetes Mellitus Endocrine system disease|Immune system disease|Metabolic disease Latent Infection MESH:D000085343 Delayed infection of the host by a dormant or inactive pathogen. MESH:D007239 C01.550 C01 Infection, Latent|Infection, Reactivated|Infection Reactivation|Infection, Reactivation|Infection Reactivations|Latent Infections|Reactivated Infection|Reactivation Infection|Reactivation, Infection|Reactivation Infections Latent Tuberculosis MESH:D055985 The dormant form of TUBERCULOSIS where the person shows no obvious symptoms and no sign of the causative agent (Mycobacterium tuberculosis) in the SPUTUM despite being positive for tuberculosis infection skin test. MESH:D000085343|MESH:D014376 C01.150.252.410.040.552.846.122|C01.550.500 C01.150.252.410.040.552.846|C01.550 Infection, Latent Tuberculosis|Infections, Latent Tuberculosis|Latent Tuberculoses|Latent Tuberculosis Infection|Latent Tuberculosis Infections|Tuberculoses, Latent|Tuberculosis Infection, Latent|Tuberculosis Infections, Latent|Tuberculosis, Latent Bacterial infection or mycosis Late Onset Disorders MESH:D000067562 Pathological conditions (Disorder, SYNDROME, or DISEASE) whose SIGNS AND SYMPTOMS manifest late in the life of an individual. MESH:D020969 C23.550.291.883 C23.550.291 Disease, Late Onset|Diseases, Late Onset|Disorder, Late Onset|Disorder, Late-Onset|Disorder, Later Onset|Disorders, Late Onset|Disorders, Late-Onset|Disorders, Later Onset|Late Onset Disease|Late Onset Diseases|Late Onset Disorder|Late-Onset Disorder|Late-Onset Disorders|Later Onset Disorder|Later Onset Disorders|Onset Disease, Late|Onset Diseases, Late|Onset Disorder, Late|Onset Disorder, Later|Onset Disorders, Late|Onset Disorders, Later Pathology (process) Late-Onset Retinal Degeneration MESH:C565309 DO:DOID:0060869|OMIM:605670 MESH:D012162 C11.270.612/C565309|C11.768.585/C565309 C11.270.612|C11.768.585 LORD|Retinal Degeneration, Late-Onset, Autosomal Dominant Eye disease Laterality Defects, Autosomal Dominant MESH:C563391 OMIM:601086 MESH:D059446 C14.240.400.592/C563391|C14.280.400.592/C563391|C15.604.744.146/C563391|C16.131.077.401/C563391|C16.131.240.400.592/C563391 C14.240.400.592|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.592 Cardiovascular disease|Congenital abnormality|Lymphatic disease Lateral Medullary Syndrome MESH:D014854 DO:DOID:3522 INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801) MESH:D020526 C10.228.140.300.150.477.100.500|C10.228.140.300.775.200.100.500|C14.907.253.092.477.100.500|C14.907.253.855.200.100.500|C23.550.513.355.250.100.500|C23.550.717.489.250.100.500 C10.228.140.300.150.477.100|C10.228.140.300.775.200.100|C14.907.253.092.477.100|C14.907.253.855.200.100|C23.550.513.355.250.100|C23.550.717.489.250.100 Dorsolateral Medullary Syndrome|Lateral Bulbar Syndrome|Lateral Medullary Syndromes|Medullary Syndrome, Dorsolateral|Posterior Inferior Cerebellar Artery Syndrome|Syndromes, Lateral Medullary|Syndrome, Vieseaux-Wallenberg|Syndrome, Wallenberg|Vieseaux Wallenberg Syndrome|Vieseaux-Wallenberg Syndrome|Wallenberg's Syndrome|Wallenbergs Syndrome|Wallenberg Syndrome Cardiovascular disease|Nervous system disease|Pathology (process) Lateral meningocele syndrome MESH:C537878 DO:DOID:0111343|OMIM:130720 MESH:D000015|MESH:D008588 C10.500.680.598/C537878|C16.131.077/C537878|C16.131.666.680.598/C537878|C23.300.707.968/C537878 C10.500.680.598|C16.131.077|C16.131.666.680.598|C23.300.707.968 Lehman Syndrome|LMNS|LMS Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Lateral semicircular canal malformation, familial, with external and middle ear abnormalities MESH:C537879 MESH:D000015 C16.131.077/C537879 C16.131.077 Congenital abnormality Lateral Sinus Thrombosis MESH:D020227 DO:DOID:3574 Formation or presence of a blood clot (THROMBUS) in the LATERAL SINUSES. This condition is often associated with ear infections (OTITIS MEDIA or MASTOIDITIS) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; NEUROSURGICAL PROCEDURES; THROMBOPHILIA; and other conditions. Clinical features include HEADACHE; VERTIGO; and increased intracranial pressure. MESH:D012851 C10.228.140.300.525.425.500.562|C14.907.253.566.350.500.562|C14.907.355.590.213.350.500.562 C10.228.140.300.525.425.500|C14.907.253.566.350.500|C14.907.355.590.213.350.500 Lateral Sinus Thrombophlebitis|Lateral Sinus Thromboses|Phlebitis, Lateral Sinus, Septic|Septic Phlebitis, Lateral Sinus|Sinus Thromboses, Transverse|Thrombophlebitis, Lateral Sinus|Thromboses, Lateral Sinus|Thromboses, Transverse Sinus|Thrombosis, Lateral Sinus|Thrombosis, Transverse Sinus|Transverse Sinus Thromboses|Transverse Sinus Thrombosis Cardiovascular disease|Nervous system disease Latex Hypersensitivity MESH:D020315 Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (HYPERSENSITIVITY, DELAYED) and IgE antibody-mediated (HYPERSENSITIVITY, IMMEDIATE) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein. MESH:D006967 C20.543.764 C20.543 Allergies, Latex|Allergies, Rubber|Allergies, Rubber Latex|Allergy, Latex|Allergy, Rubber|Allergy, Rubber Latex|Hypersensitivities, Latex|Hypersensitivity, Latex|Latex Allergies|Latex Allergy|Latex Hypersensitivities|Natural Rubber Latex Allergy|Rubber Allergies|Rubber Allergy|Rubber Latex Allergies|Rubber Latex Allergy Immune system disease Lathosterolosis MESH:C537880 OMIM:607330 MESH:D043202 C16.320.565.925/C537880|C18.452.648.925/C537880 C16.320.565.925|C18.452.648.925 3-beta-hydroxysteroid-delta(5)-desaturase deficiency|Deficiency of 3-beta-hydroxysteroid-delta(5)-desaturase|LATHOS|SC5D DEFICIENCY|Sterol C5-Desaturase Deficiency Genetic disease (inborn)|Metabolic disease Lathyrism MESH:D007842 A paralytic condition of the legs caused by ingestion of lathyrogens, especially BETA-AMINOPROPIONITRILE or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus LATHYRUS. MESH:D010939 C25.723.756.558 C25.723.756 Neurolathyrism Lattice corneal dystrophy type 1 MESH:C537881 OMIM:122200 MESH:D003317 C11.204.236/C537881|C11.270.162/C537881|C16.320.290.162/C537881 C11.204.236|C11.270.162|C16.320.290.162 Biber-Haab-Dimmer Dystrophy|CDL1|CDL1 Corneal dystrophy, lattice type 1|Corneal dystrophy, lattice type 1|Corneal Dystrophy, Lattice Type I|Lattice Corneal Dystrophy Type I|Lattice Corneal Dystrophy, Type I|LCD|LCD1|LCD1 Lattice Corneal Dystrophy 1 Eye disease|Genetic disease (inborn) Lattice Corneal Dystrophy, Type II MESH:C000657784 MESH:D003317|MESH:D028227 C10.574.500.050/C000657784|C10.668.829.050.050/C000657784|C11.204.236/C000657784|C11.270.162/C000657784|C16.320.290.162/C000657784|C16.320.400.050/C000657784|C16.320.565.176.050/C000657784|C18.452.648.176.050/C000657784|C18.452.845.500.050.050/C000657784|C18.452.845.500.075.050/C000657784 C10.574.500.050|C10.668.829.050.050|C11.204.236|C11.270.162|C16.320.290.162|C16.320.400.050|C16.320.565.176.050|C18.452.648.176.050|C18.452.845.500.050.050|C18.452.845.500.075.050 Corneal Dystrophy, Lattice Type II|Familial Amyloidosis, Finnish Type|Familial Amyloid Polyneuropathy Type Iv|Gelsolin-Related Amyloidosis|Kymenlaakso Syndrome|Lattice Corneal Dystrophy, Gelsolin Type|Lattice Corneal Dystrophy Type Ii Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Lattice Degeneration of Retina Leading to Retinal Detachment MESH:C563633 MESH:D012162|MESH:D012163 C11.270.612/C563633|C11.768.585/C563633|C11.768.648/C563633 C11.270.612|C11.768.585|C11.768.648 Eye disease Laurence-Moon Syndrome MESH:D007849 DO:DOID:1930|OMIM:245800 An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9) MESH:D000015|MESH:D007027 C10.228.140.617.500|C16.131.077.509 C10.228.140.617|C16.131.077 Laurence Moon Biedl Syndrome|Laurence-Moon-Biedl Syndrome|Laurence Moon Syndrome|LNMS|Syndrome, Laurence-Moon|Syndrome, Laurence-Moon-Biedl Congenital abnormality|Nervous system disease Laurence Prosser Rocker syndrome MESH:C537882 MESH:D006345|MESH:D006627|MESH:D017689 C05.660.585.600/C537882|C06.198.439/C537882|C06.405.469.158.701.439/C537882|C14.240.400.560.540/C537882|C14.280.400.560.540/C537882|C16.131.240.400.560.540/C537882|C16.131.314.439/C537882|C16.131.621.585.600/C537882 C05.660.585.600|C06.198.439|C06.405.469.158.701.439|C14.240.400.560.540|C14.280.400.560.540|C16.131.240.400.560.540|C16.131.314.439|C16.131.621.585.600 Cardiovascular disease|Congenital abnormality|Digestive system disease|Musculoskeletal disease Laurin-Sandrow syndrome MESH:C535689 DO:DOID:0111350|OMIM:135750 MESH:D000015|MESH:D004480|MESH:D005532|MESH:D006228 C05.330.495/C535689|C05.390.408/C535689|C05.660.585.350/C535689|C05.660.585.512.380/C535689|C05.660.585.988.425/C535689|C16.131.077/C535689|C16.131.621.585.350/C535689|C16.131.621.585.512.500/C535689|C16.131.621.585.988.500/C535689 C05.330.495|C05.390.408|C05.660.585.350|C05.660.585.512.380|C05.660.585.988.425|C16.131.077|C16.131.621.585.350|C16.131.621.585.512.500|C16.131.621.585.988.500 Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius|FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS LAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED|Fibula ulna duplication tibia radius absence|Laurin Sandrow syndrome|Laurin-Sandrow Syndrome, Segmental|LSS|MIP|Mirror hands and feet with nasal defects|Mirror-Image Polydactyly|Sandrow syndrome|Tetramelic mirror-image polydactyly|TMIP Congenital abnormality|Musculoskeletal disease Lazy Leukocyte Syndrome MESH:C562721 MESH:D007960|MESH:D009503 C15.378.553.546.184.564/C562721|C15.378.553/C562721 C15.378.553|C15.378.553.546.184.564 Blood disease Lead Poisoning MESH:D007855 Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of LEAD or lead compounds. MESH:D000075322 C25.723.522.750 C25.723.522 Lead Poisonings|Poisoning, Lead|Poisonings, Lead Lead Poisoning, Nervous System MESH:D020263 Injury to the nervous system secondary to exposure to lead compounds. Two distinct clinical patterns occur in children (LEAD POISONING, NERVOUS SYSTEM, CHILDHOOD) and adults (LEAD POISONING, NERVOUS SYSTEM, ADULT). In children, lead poisoning typically produces an encephalopathy. In adults, exposure to toxic levels of lead is associated with a peripheral neuropathy. MESH:D007855|MESH:D020260 C10.720.475.400|C25.723.522.750.500 C10.720.475|C25.723.522.750 Lead-Induced Nervous System Diseases|Lead Neurotoxicity Syndrome|Lead Neurotoxicity Syndromes|Lead Poisoning, Neurologic|Nervous System Diseases, Lead-Induced|Nervous System Plumbism|Nervous System Poisoning, Lead|Neurologic Lead Poisoning|Neurologic Plumbism|Neurotoxicity Syndrome, Lead|Neurotoxicity Syndromes, Lead|Plumbism, Nervous System|Plumbism, Neurologic|Poisoning, Lead, Nervous System|Poisoning, Lead, Neurologic|Syndrome, Lead Neurotoxicity|Syndromes, Lead Neurotoxicity Nervous system disease Lead Poisoning, Nervous System, Adult MESH:D020265 Neurologic conditions in adults associated with acute or chronic exposure to lead or any of its salts. The most common lead related neurologic syndrome in adults consists of a polyneuropathy involving motor fibers. This tends to affect distal nerves and may present as wrist drop due to RADIAL NEUROPATHY. Additional features of chronic lead exposure include ANEMIA; CONSTIPATION; colicky abdominal pain; a bluish lead line of the gums; interstitial nephritis (NEPHRITIS, INTERSTITIAL); and saturnine gout. An encephalopathy may rarely occur. (From Adams et al., Principles of Neurology, 6th ed, p1212) MESH:D020263 C10.720.475.400.350|C25.723.522.750.500.400 C10.720.475.400|C25.723.522.750.500 Adult Neurologic Saturnism|Lead Induced Nervous System Diseases, Adult|Lead-Induced Polyneuropathies|Lead Induced Polyneuropathy|Lead-Induced Polyneuropathy|Lead Poisoning, Neurologic, Adult|Lead Polyneuropathy|Nervous System Diseases, Lead Induced, Adult|Nervous System Poisoning, Lead, Adult|Nervous System Toxicity, Lead, Adult|Neurologic Saturnism, Adult|Neurotoxicity Syndrome, Lead, Adult|Plumbism, Neurologic, Adult|Poisoning, Lead, Nervous System, Adult|Poisoning, Lead, Neurologic, Adult|Polyneuropathies, Lead-Induced|Polyneuropathy, Lead|Polyneuropathy, Lead Induced|Polyneuropathy, Lead-Induced|Saturnism, Adult Neurologic Nervous system disease Lead Poisoning, Nervous System, Childhood MESH:D020264 Neurologic disorders occurring in children following lead exposure. The most frequent manifestation of childhood lead toxicity is an encephalopathy associated with chronic ingestion of lead that usually presents between the ages of 1 and 3 years. Clinical manifestations include behavioral changes followed by lethargy; CONVULSIONS; HALLUCINATIONS; DELIRIUM; ATAXIA; and vomiting. Elevated intracranial pressure (HYPERTENSION, INTRACRANIAL) and CEREBRAL EDEMA may occur. (From Adams et al., Principles of Neurology, 6th ed, p1210-2) MESH:D020263 C10.720.475.400.700|C25.723.522.750.500.700 C10.720.475.400|C25.723.522.750.500 Childhood Lead Encephalopathy|Childhood Neurologic Saturnism|Childhood Saturine Encephalopathy|Encephalopathy, Childhood Lead|Encephalopathy, Childhood Saturine|Lead Encephalopathy, Childhood|Lead Induced Nervous System Disease, Childhood|Lead-Induced Nervous System Disease, Childhood|Lead Poisoning, Neurologic, Childhood|Nervous System Disease, Lead-Induced, Childhood|Nervous System Poisoning, Lead, Childhood|Neurologic Saturnism, Childhood|Neurotoxicity Syndrome, Lead, Childhood|Plumbism, Neurologic, Childhood|Poisoning, Lead, Nervous System, Childhood|Poisoning, Lead, Neurologic, Childhood|Saturine Encephalopathy, Childhood|Saturnism, Childhood Neurologic Nervous system disease Learning Disabilities MESH:D007859 DO:DOID:8927 Conditions characterized by a significant discrepancy between an individual's perceived level of intellect and their ability to acquire new language and other cognitive skills. These may result from organic or psychological conditions. Relatively common subtypes include DYSLEXIA, DYSCALCULIA, and DYSGRAPHIA. MESH:D003147|MESH:D065886 C10.597.606.150.550|C23.888.592.604.150.550|F03.625.562 C10.597.606.150|C23.888.592.604.150|F03.625 Academic Disabilities, Developmental|Academic Disability, Developmental|Academic Disorder, Developmental|Academic Disorders, Developmental|Adolescent Learning Disabilities|Adolescent Learning Disability|Adult Learning Disabilities|Adult Learning Disability|Adult Learning Disorder|Adult Learning Disorders|Child Learning Disabilities|Child Learning Disability|Developmental Academic Disabilities|Developmental Academic Disability|Developmental Academic Disorder|Developmental Academic Disorders|Developmental Disabilities of Scholastic Skills|Developmental Disorders of Scholastic Skills|Disabilities, Adolescent Learning|Disabilities, Adult Learning|Disabilities, Child Learning|Disabilities, Developmental Academic|Disabilities, Learning|Disability, Adolescent Learning|Disability, Adult Learning|Disability, Child Learning|Disability, Developmental Academic|Disability, Learning|Disorder, Learning|Disorders, Adult Learning|Disorders, Learning|Disturbance, Learning|Disturbances, Learning|Learning Disabilities, Adolescent|Learning Disabilities, Adult|Learning Disabilities, Child|Learning Disability|Learning Disability, Adolescent|Learning Disability, Adult|Learning Disability, Child|Learning Disorder|Learning Disorder, Adult|Learning Disorders|Learning Disorders, Adult|Learning Disturbance|Learning Disturbances|Scholastic Skills Development Disorders Mental disorder|Nervous system disease|Signs and symptoms Leber Congenital Amaurosis MESH:D057130 DO:DOID:14791 A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells. MESH:D012164|MESH:D015785 C11.270.516|C11.768.364 C11.270|C11.768 Abiotrophies, Leber|Abiotrophy, Leber|Amauroses, Leber Congenital|Amauroses, Leber's|Amaurosis, Leber Congenital|Amaurosis, Leber's|Blindness, Congenital Retinal|Blindnesses, Congenital Retinal|Congenital Amauroses, Leber|Congenital Amaurosis, Leber|Congenital Amaurosis of Retinal Origin|Congenital Retinal Blindness|Congenital Retinal Blindnesses|Dysgenesis Neuroepithelialis Retinae|Hereditary Epithelial Dysplasia of Retina|Hereditary Retinal Aplasia|Heredoretinopathia Congenitalis|Leber Abiotrophies|Leber Abiotrophy|Leber Amaurosis|Leber Congenital Amauroses|Leber Congenital Tapetoretinal Degeneration|Leber's Amauroses|Leber's Amaurosis|Lebers Amaurosis|Retinal Blindnesses, Congenital Eye disease Leber Congenital Amaurosis 10 MESH:C565720 DO:DOID:0110291|OMIM:611755 MESH:D057130 C11.270.516/C565720|C11.768.364/C565720 C11.270.516|C11.768.364 LCA10 Eye disease Leber Congenital Amaurosis 11 MESH:C564140 DO:DOID:0110216|OMIM:613837 MESH:D057130 C11.270.516/C564140|C11.768.364/C564140 C11.270.516|C11.768.364 LCA11 Eye disease Leber Congenital Amaurosis 12 MESH:C565697 DO:DOID:0110080|OMIM:610612 MESH:D057130 C11.270.516/C565697|C11.768.364/C565697 C11.270.516|C11.768.364 LCA12 Eye disease Leber Congenital Amaurosis 13 MESH:C567197 DO:DOID:0110330|OMIM:612712 MESH:D057130 C11.270.516/C567197|C11.768.364/C567197 C11.270.516|C11.768.364 LCA13|RETINITIS PIGMENTOSA 53, INCLUDED|RP53, INCLUDED Eye disease Leber Congenital Amaurosis 14 MESH:C567636 DO:DOID:0110188|OMIM:613341 MESH:D012174|MESH:D057130 C11.270.516/C567636|C11.270.684/C567636|C11.768.364/C567636|C11.768.585.658.500/C567636|C16.320.290.684/C567636 C11.270.516|C11.270.684|C11.768.364|C11.768.585.658.500|C16.320.290.684 LCA14|Retinal Dystrophy, Early-Onset Severe, Lrat-Related|RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED|Retinitis Pigmentosa, Juvenile, Lrat-Related|RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED, INCLUDED Eye disease|Genetic disease (inborn) LEBER CONGENITAL AMAUROSIS 15 OMIM:613843 DO:DOID:0110189 MESH:D057130 C11.270.516/613843|C11.768.364/613843 C11.270.516|C11.768.364 LCA15|RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED, INCLUDED Eye disease LEBER CONGENITAL AMAUROSIS 16 OMIM:614186 DO:DOID:0110118 MESH:D057130 C11.270.516/614186|C11.768.364/614186 C11.270.516|C11.768.364 LCA16 Eye disease LEBER CONGENITAL AMAUROSIS 17 OMIM:615360 DO:DOID:0110217 MESH:D057130 C11.270.516/615360|C11.768.364/615360 C11.270.516|C11.768.364 LCA17 Eye disease Leber Congenital Amaurosis 3 MESH:C565814 DO:DOID:0110331|OMIM:604232 MESH:D012174|MESH:D057130 C11.270.516/C565814|C11.270.684/C565814|C11.768.364/C565814|C11.768.585.658.500/C565814|C16.320.290.684/C565814 C11.270.516|C11.270.684|C11.768.364|C11.768.585.658.500|C16.320.290.684 LCA3|RETINITIS PIGMENTOSA 94, VARIABLE AGE AT ONSET, INCLUDED|Retinitis Pigmentosa, Juvenile, SPATA7-Related|RP94,|RP94, INCLUDED Eye disease|Genetic disease (inborn) Leber Congenital Amaurosis 4 MESH:C565778 DO:DOID:0110332|OMIM:604393 MESH:D057130 C11.270.516/C565778|C11.768.364/C565778 C11.270.516|C11.768.364 Cone-Rod Dystrophy, Aipl1-Related|CONE-ROD DYSTROPHY, AIPL1-RELATED, INCLUDED|LCA4|Retinitis Pigmentosa, Juvenile, Aipl1-Related|RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED, INCLUDED Eye disease Leber Congenital Amaurosis 6 MESH:C565327 DO:DOID:0110329|OMIM:613826 MESH:D057130 C11.270.516/C565327|C11.768.364/C565327 C11.270.516|C11.768.364 LCA6 Eye disease LEBER CONGENITAL AMAUROSIS 7 OMIM:613829 DO:DOID:0110333 MESH:D057130 C11.270.516/613829|C11.768.364/613829 C11.270.516|C11.768.364 LCA7 Eye disease LEBER CONGENITAL AMAUROSIS 8 OMIM:613835 DO:DOID:0110079 MESH:D057130 C11.270.516/613835|C11.768.364/613835 C11.270.516|C11.768.364 LCA8 Eye disease Leber congenital amaurosis type 3 MESH:C536998 MESH:D057130 C11.270.516/C536998|C11.768.364/C536998 C11.270.516|C11.768.364 Amaurosis congenita of Leber, 3 Eye disease Leber congenital amaurosis, type 4 MESH:C536999 MESH:D057130 C11.270.516/C536999|C11.768.364/C536999 C11.270.516|C11.768.364 Amaurosis congenita of Leber, 4 Eye disease Lecithin Cholesterol Acyltransferase Deficiency MESH:D007863 DO:DOID:1391|OMIM:136120|OMIM:245900 An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure. MESH:D052456 C16.320.565.398.500.330.500|C18.452.584.500.875.330.500|C18.452.584.563.500.330.500|C18.452.648.398.500.330.500 C16.320.565.398.500.330|C18.452.584.500.875.330|C18.452.584.563.500.330|C18.452.648.398.500.330 Acyltransferase Deficiency, Lecithin:Cholesterol|alpha LCAT Deficiency|alpha-LCAT Deficiency|alpha-Lecithin-Cholesterol Acyltransferase Deficiency|alpha-Lecithin:Cholesterol Acyltransferase Deficiency|Corneal Dystrophy, Dyslipoproteinemic|Deficiency, alpha-LCAT|Deficiency, LCAT|Dyslipoproteinemic Corneal Dystrophy|FED|Fish Eye Disease|Fish-Eye Disease|LCATA Deficiencies|LCATA Deficiency|LCAT Deficiency|Lecithin:Cholesterol Acyltransferase Deficiency|Norum Disease Genetic disease (inborn)|Metabolic disease Left-Right Axis Malformations MESH:C566610 MESH:D059446 C14.240.400.592/C566610|C14.280.400.592/C566610|C15.604.744.146/C566610|C16.131.077.401/C566610|C16.131.240.400.592/C566610 C14.240.400.592|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.592 Cardiovascular disease|Congenital abnormality|Lymphatic disease Left-sided gallbladder MESH:C537001 MESH:D005705 C06.130.564/C537001 C06.130.564 Gallbladder, left-sided Digestive system disease LEFT VENTRICULAR NONCOMPACTION 1 OMIM:604169 DO:DOID:0060480 MESH:D056830 C14.240.400.660/604169|C14.280.238.281.500/604169|C14.280.400.660/604169|C16.131.077.477/604169|C16.131.240.400.655/604169|C16.320.322.370/604169 C14.240.400.660|C14.280.238.281.500|C14.280.400.660|C16.131.077.477|C16.131.240.400.655|C16.320.322.370 LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS|LVNC1 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) LEFT VENTRICULAR NONCOMPACTION 10 OMIM:615396 DO:DOID:0081158 MESH:D056830 C14.240.400.660/615396|C14.280.238.281.500/615396|C14.280.400.660/615396|C16.131.077.477/615396|C16.131.240.400.655/615396|C16.320.322.370/615396 C14.240.400.660|C14.280.238.281.500|C14.280.400.660|C16.131.077.477|C16.131.240.400.655|C16.320.322.370 CARDIOMYOPATHY, DILATED, 1MM, INCLUDED|CMD1MM, INCLUDED|LVNC10 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) LEFT VENTRICULAR NONCOMPACTION 2 OMIM:609470 MESH:D056830 C14.240.400.660/609470|C14.280.238.281.500/609470|C14.280.400.660/609470|C16.131.077.477/609470|C16.131.240.400.655/609470|C16.320.322.370/609470 C14.240.400.660|C14.280.238.281.500|C14.280.400.660|C16.131.077.477|C16.131.240.400.655|C16.320.322.370 LVNC2 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) LEFT VENTRICULAR NONCOMPACTION 7 OMIM:615092 MESH:D056830 C14.240.400.660/615092|C14.280.238.281.500/615092|C14.280.400.660/615092|C16.131.077.477/615092|C16.131.240.400.655/615092|C16.320.322.370/615092 C14.240.400.660|C14.280.238.281.500|C14.280.400.660|C16.131.077.477|C16.131.240.400.655|C16.320.322.370 LVNC7 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) LEFT VENTRICULAR NONCOMPACTION 8 OMIM:615373 DO:DOID:0081157 MESH:D056830 C14.240.400.660/615373|C14.280.238.281.500/615373|C14.280.400.660/615373|C16.131.077.477/615373|C16.131.240.400.655/615373|C16.320.322.370/615373 C14.240.400.660|C14.280.238.281.500|C14.280.400.660|C16.131.077.477|C16.131.240.400.655|C16.320.322.370 CARDIOMYOPATHY, DILATED, 1LL, INCLUDED|CMD1LL, INCLUDED|LVNC8 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) Leg, Absence Deformity of, with Congenital Cataract MESH:C565442 OMIM:246000 MESH:D002386 C11.510.245/C565442 C11.510.245 Eye disease Leg Dermatoses MESH:D007868 DO:DOID:3142 A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed) MESH:D012871 C17.800.446 C17.800 Dermatoses, Leg|Dermatosis, Leg|Leg Dermatosis Skin disease Legg-Calve-Perthes Disease MESH:D007873 DO:DOID:14415|OMIM:150600 A particular type of FEMUR HEAD NECROSIS occurring in children, mainly male, with a course of four years or so. MESH:D005271 C05.116.852.175.570 C05.116.852.175 Coxa Plana|Disease, Legg-Calve-Perthes|Disease, Legg-Calvé-Perthes|Disease, Legg-Perthes|Disease, Perthes|LCP|LCPD|Legg Calve Perthes Disease|Legg Calvé Perthes Disease|Legg-Calvé-Perthes Disease|Legg Calve Perthes Syndrome|Legg-Calve-Perthes Syndrome|Legg Calvé Perthes Syndrome|Legg-Calvé-Perthes Syndrome|Legg Perthes Disease|Legg-Perthes Disease|Osteochondritis Deforman|Osteochondritis Deformans|Perthes Disease|Syndrome, Legg-Calve-Perthes|Syndrome, Legg-Calvé-Perthes Musculoskeletal disease Leg Injuries MESH:D007869 General or unspecified injuries involving the leg. MESH:D014947 C26.558 C26 Injuries, Leg|Injury, Leg|Leg Injury Wounds and injuries Legionellosis MESH:D007876 DO:DOID:10458 Infections with bacteria of the genus LEGIONELLA. MESH:D012141|MESH:D016905 C01.150.252.400.500|C01.748.382|C08.730.382 C01.150.252.400|C01.748|C08.730 Legionelloses Bacterial infection or mycosis|Respiratory tract disease Legionnaires' Disease MESH:D007877 DO:DOID:10457|OMIM:608556 An acute, sometimes fatal, pneumonia-like bacterial infection characterized by high fever, malaise, muscle aches, respiratory disorders and headache. It is named for an outbreak at the 1976 Philadelphia convention of the American Legion. MESH:D007876 C01.150.252.400.500.501|C01.748.382.380|C08.730.382.380 C01.150.252.400.500|C01.748.382|C08.730.382 Disease, Legionnaire|Disease, Legionnaires'|Fever, Pontiac|Infection, Legionella pneumophila|Infections, Legionella pneumophila|Legionella pneumophila Infection|Legionella pneumophila Infections|Legionnaire Disease|LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO|Legionnaire's Disease|Legionnaires Disease|Pontiac Fever Bacterial infection or mycosis|Respiratory tract disease Legius syndrome MESH:C548032 DO:DOID:0070484|OMIM:611431 MESH:D019080 C17.800.621.250/C548032|C23.888.885.250/C548032 C17.800.621.250|C23.888.885.250 LGSS|Neurofibromatosis Type 1-Like Syndrome|NFLS Signs and symptoms|Skin disease Leg Length Inequality MESH:D007870 A condition in which one of a pair of legs fails to grow as long as the other, which could result from injury or surgery. MESH:D001848|MESH:D020763 C05.116.099.655|C23.300.808 C05.116.099|C23.300 Inequalities, Leg Length|Inequality, Leg Length|Leg Length Inequalities|Length Inequalities, Leg|Length Inequality, Leg Musculoskeletal disease|Pathology (anatomical condition) Leg Ulcer MESH:D007871 Ulceration of the skin and underlying structures of the lower extremity. About 90% of the cases are due to venous insufficiency (VARICOSE ULCER), 5% to arterial disease, and the remaining 5% to other causes. MESH:D012883 C17.800.893.592 C17.800.893 Leg Ulcers|Ulcer, Leg|Ulcers, Leg Skin disease Leg Ulcers, Familial, of Juvenile Onset MESH:C563632 MESH:D007871 C17.800.893.592/C563632 C17.800.893.592 Skin disease Leichtman Wood Rohn syndrome MESH:C537003 MESH:D000853|MESH:D019465 C05.660.207/C537003|C11.250.080/C537003|C16.131.384.159/C537003|C16.131.621.207/C537003 C05.660.207|C11.250.080|C16.131.384.159|C16.131.621.207 Anophthalmia, cleft lip-palate, facial anomalies, and CNS anomalies and hypothalamic disorder Congenital abnormality|Eye disease|Musculoskeletal disease Leigh Disease MESH:D007888 DO:DOID:3652|OMIM:256000 A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850). MESH:D015323|MESH:D020739|MESH:D028361 C10.228.140.163.100.412|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 C10.228.140.163.100|C16.320.565.189|C16.320.565.202.810|C18.452.132.100|C18.452.648.189|C18.452.648.202.810|C18.452.660 Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necrotizing|Encephalopathy, Subacute Necrotizing, Infantile|Encephalopathy, Subacute Necrotizing, Juvenile|Infantile Leigh Disease|Infantile Subacute Necrotizing Encephalopathy|Juvenile Leigh Disease|Juvenile Subacute Necrotizing Encephalopathy|Leigh Disease, Infantile|Leigh Disease, Juvenile|Leigh's Disease|Leighs Disease|Leigh Syndrome|LS|Necrotizing Encephalomyelitides, Subacute|Necrotizing Encephalomyelitis, Subacute|Necrotizing Encephalomyelopathies, Subacute|Necrotizing Encephalomyelopathy, Subacute|Necrotizing Encephalopathies, Subacute|NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH|Necrotizing Encephalopathy, Subacute|SNE|Subacute Necrotizing Encephalomyelitides|Subacute Necrotizing Encephalomyelitis|Subacute Necrotizing Encephalomyelitis, Infantile|Subacute Necrotizing Encephalomyelopathies|Subacute Necrotizing Encephalomyelopathy|Subacute Necrotizing Encephalopathies|Subacute Necrotizing Encephalopathy|Subacute Necrotizing Encephalopathy, Infantile|Subacute Necrotizing Encephalopathy, Juvenile Genetic disease (inborn)|Metabolic disease|Nervous system disease Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency MESH:C536255 MESH:D007888|MESH:D015324 C10.228.140.163.100.412/C536255|C10.228.140.163.100.725/C536255|C16.320.565.189.412/C536255|C16.320.565.189.725/C536255|C16.320.565.202.810.444/C536255|C16.320.565.202.810.666/C536255|C18.452.132.100.412/C536255|C18.452.132.100.725/C536255|C18.452.648.189.412/C536255|C18.452.648.189.725/C536255|C18.452.648.202.810.444/C536255|C18.452.648.202.810.666/C536255|C18.452.660.520/C536255|C18.452.660.705/C536255 C10.228.140.163.100.412|C10.228.140.163.100.725|C16.320.565.189.412|C16.320.565.189.725|C16.320.565.202.810.444|C16.320.565.202.810.666|C18.452.132.100.412|C18.452.132.100.725|C18.452.648.189.412|C18.452.648.189.725|C18.452.648.202.810.444|C18.452.648.202.810.666|C18.452.660.520|C18.452.660.705 Leigh syndrome due to pyruvate carboxylase deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency MESH:C564021 MESH:D007888 C10.228.140.163.100.412/C564021|C16.320.565.189.412/C564021|C16.320.565.202.810.444/C564021|C18.452.132.100.412/C564021|C18.452.648.189.412/C564021|C18.452.648.202.810.444/C564021|C18.452.660.520/C564021 C10.228.140.163.100.412|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 Atpase Deficiency, Nuclear-Encoded Genetic disease (inborn)|Metabolic disease|Nervous system disease Leigh Syndrome Due To Mitochondrial Complex II Deficiency MESH:C564961 MESH:D007888 C10.228.140.163.100.412/C564961|C16.320.565.189.412/C564961|C16.320.565.202.810.444/C564961|C18.452.132.100.412/C564961|C18.452.648.189.412/C564961|C18.452.648.202.810.444/C564961|C18.452.660.520/C564961 C10.228.140.163.100.412|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 Genetic disease (inborn)|Metabolic disease|Nervous system disease Leigh Syndrome due to Mitochondrial Complex III Deficiency MESH:C564962 MESH:D007888 C10.228.140.163.100.412/C564962|C16.320.565.189.412/C564962|C16.320.565.202.810.444/C564962|C18.452.132.100.412/C564962|C18.452.648.189.412/C564962|C18.452.648.202.810.444/C564962|C18.452.660.520/C564962 C10.228.140.163.100.412|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 Genetic disease (inborn)|Metabolic disease|Nervous system disease Leigh Syndrome due to Mitochondrial Complex IV Deficiency MESH:C564963 MESH:D007888 C10.228.140.163.100.412/C564963|C16.320.565.189.412/C564963|C16.320.565.202.810.444/C564963|C18.452.132.100.412/C564963|C18.452.648.189.412/C564963|C18.452.648.202.810.444/C564963|C18.452.660.520/C564963 C10.228.140.163.100.412|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 Genetic disease (inborn)|Metabolic disease|Nervous system disease Leigh Syndrome due to Mitochondrial Complex V Deficiency MESH:C564964 MESH:D007888 C10.228.140.163.100.412/C564964|C16.320.565.189.412/C564964|C16.320.565.202.810.444/C564964|C18.452.132.100.412/C564964|C18.452.648.189.412/C564964|C18.452.648.202.810.444/C564964|C18.452.660.520/C564964 C10.228.140.163.100.412|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 Genetic disease (inborn)|Metabolic disease|Nervous system disease Leigh syndrome , French Canadian type MESH:C537004 DO:DOID:0111180|OMIM:220111 MESH:D007888|MESH:D030401 C10.228.140.163.100.412/C537004|C16.320.565.189.412/C537004|C16.320.565.202.810.444/C537004|C16.320.565.240/C537004|C18.452.132.100.412/C537004|C18.452.648.189.412/C537004|C18.452.648.202.810.444/C537004|C18.452.660.195/C537004|C18.452.660.520/C537004 C10.228.140.163.100.412|C16.320.565.189.412|C16.320.565.202.810.444|C16.320.565.240|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.195|C18.452.660.520 Cox deficiency, French Canadian type|Cox Deficiency, French-Canadian Type|Cox deficiency, Saguenay Lac saint Jean type|Cox Deficiency, Saguenay-Lac Saint-Jean Type|COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE|Cytochrome c oxidase deficiency, French Canadian type|Cytochrome C Oxidase Deficiency, French-Canadian Type|Leigh Syndrome, French-Canadian Type|LEIGH SYNDROME, FRENCH CANADIAN TYPE|Leigh syndrome, Saguenay Lac saint Jean type|Leigh Syndrome, Saguenay-Lac Saint-Jean Type|LEIGH SYNDROME, SAGUENAY-LAC-SAINT-JEAN TYPE|LSFC|MC4DN5|MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 Genetic disease (inborn)|Metabolic disease|Nervous system disease Leigh Syndrome, X-Linked MESH:C564114 MESH:D007888|MESH:D040181 C10.228.140.163.100.412/C564114|C16.320.322/C564114|C16.320.565.189.412/C564114|C16.320.565.202.810.444/C564114|C18.452.132.100.412/C564114|C18.452.648.189.412/C564114|C18.452.648.202.810.444/C564114|C18.452.660.520/C564114 C10.228.140.163.100.412|C16.320.322|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 Genetic disease (inborn)|Metabolic disease|Nervous system disease Leiomyoma MESH:D007889 DO:DOID:127|DO:DOID:13223 A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues. MESH:D009379 C04.557.450.590.450 C04.557.450.590 Fibroid|Fibroids|Fibroids, Uterine|Fibroid Tumor|Fibroid Tumors|Fibroid, Uterine|Fibroid Uterus|Fibromas, Uterine|Fibroma, Uterine|Fibromyoma|Fibromyomas|Leiomyomas|Leiomyoma, Uterine|Tumor, Fibroid|Tumors, Fibroid|Uterine Fibroid|Uterine Fibroids|Uterine Fibroma|Uterine Fibromas|Uterus, Fibroid Cancer Leiomyoma, Epithelioid MESH:D018230 A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354) MESH:D007889 C04.557.450.590.450.455 C04.557.450.590.450 Epithelioid Leiomyoma|Epithelioid Leiomyomas|Leiomyoblastoma|Leiomyoblastomas|Leiomyomas, Epithelioid Cancer Leiomyoma of vulva and esophagus MESH:C537006 MESH:D004938|MESH:D014594|MESH:D018231 C04.557.450.590.450.465/C537006|C04.588.274.476.205/C537006|C04.588.443.353/C537006|C04.588.945.418.948/C537006|C06.301.371.205/C537006|C06.405.117.430/C537006|C06.405.249.205/C537006|C12.050.351.500.852.762/C537006|C12.050.351.937.418.875/C537006|C12.100.250.852.762/C537006|C12.900.418.875/C537006 C04.557.450.590.450.465|C04.588.274.476.205|C04.588.443.353|C04.588.945.418.948|C06.301.371.205|C06.405.117.430|C06.405.249.205|C12.050.351.500.852.762|C12.050.351.937.418.875|C12.100.250.852.762|C12.900.418.875 Esophagogastric and vulvar leiomyomatosis|Leiomyomatosis, esophagogastric and vulvar Cancer|Digestive system disease|Urogenital disease (female) Leiomyomatosis MESH:D018231 DO:DOID:5138 The state of having multiple leiomyomas throughout the body. (Stedman, 25th ed) MESH:D007889 C04.557.450.590.450.465 C04.557.450.590.450 Leiomyomatoses Cancer Leiomyomatosis, esophageal and vulval, with nephropathy MESH:C537113 OMIM:308940 MESH:D009394|MESH:D018231 C04.557.450.590.450.465/C537113|C12.050.351.875.742/C537113|C12.050.351.968.419.570.620/C537113|C12.200.706.742/C537113|C12.200.777.419.570.620/C537113|C12.800.742/C537113|C12.950.419.570.620/C537113|C16.131.939.742/C537113|C17.300.200.517/C537113 C04.557.450.590.450.465|C12.050.351.875.742|C12.050.351.968.419.570.620|C12.200.706.742|C12.200.777.419.570.620|C12.800.742|C12.950.419.570.620|C16.131.939.742|C17.300.200.517 Alport Syndrome And Diffuse Leiomyomatosis|Alport syndrome with diffuse leiomyomatosis|ATS-DL|CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME|Diffuse leiomyomatosis in Alport syndrome|Diffuse Leiomyomatosis With Alport Syndrome|DL-ATS|LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME|LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY Cancer|Congenital abnormality|Connective tissue disease|Urogenital disease (female)|Urogenital disease (male) LEIOMYOMA, UTERINE OMIM:150699 DO:DOID:13223 MESH:D007889|MESH:D014594 C04.557.450.590.450/150699|C04.588.945.418.948/150699|C12.050.351.500.852.762/150699|C12.050.351.937.418.875/150699|C12.100.250.852.762/150699|C12.900.418.875/150699 C04.557.450.590.450|C04.588.945.418.948|C12.050.351.500.852.762|C12.050.351.937.418.875|C12.100.250.852.762|C12.900.418.875 UL Cancer|Urogenital disease (female) Leiomyosarcoma MESH:D007890 DO:DOID:1967|DO:DOID:5264|DO:DOID:5268 A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865) MESH:D009379|MESH:D012509 C04.557.450.590.455|C04.557.450.795.455 C04.557.450.590|C04.557.450.795 Epithelioid Leiomyosarcoma|Epithelioid Leiomyosarcomas|Leiomyosarcoma, Epithelioid|Leiomyosarcoma, Myxoid|Leiomyosarcomas|Leiomyosarcomas, Epithelioid|Leiomyosarcomas, Myxoid|Myxoid Leiomyosarcoma|Myxoid Leiomyosarcomas Cancer Leishmaniasis MESH:D007896 DO:DOID:9065 A disease caused by any of a number of species of protozoa in the genus LEISHMANIA. There are four major clinical types of this infection: cutaneous (Old and New World) (LEISHMANIASIS, CUTANEOUS), diffuse cutaneous (LEISHMANIASIS, DIFFUSE CUTANEOUS), mucocutaneous (LEISHMANIASIS, MUCOCUTANEOUS), and visceral (LEISHMANIASIS, VISCERAL). MESH:D000079426|MESH:D012876|MESH:D056986 C01.610.752.300.500|C01.610.858.560|C01.920.813|C17.800.838.775.560 C01.610.752.300|C01.610.858|C01.920|C17.800.838.775 Infection, Leishmania|Infections, Leishmania|Leishmania Infection|Leishmania Infections|Leishmaniases Parasitic disease|Skin disease Leishmaniasis, Cutaneous MESH:D016773 DO:DOID:9111 An endemic disease that is characterized by the development of single or multiple localized lesions on exposed areas of skin that typically ulcerate. The disease has been divided into Old and New World forms. Old World leishmaniasis is separated into three distinct types according to epidemiology and clinical manifestations and is caused by species of the L. tropica and L. aethiopica complexes as well as by species of the L. major genus. New World leishmaniasis, also called American leishmaniasis, occurs in South and Central America and is caused by species of the L. mexicana or L. braziliensis complexes. MESH:D007896 C01.610.752.300.500.400|C01.610.858.560.400|C01.920.813.400|C17.800.838.775.560.400 C01.610.752.300.500|C01.610.858.560|C01.920.813|C17.800.838.775.560 American Leishmaniasis|Cutaneous Leishmaniases|Cutaneous Leishmaniasis|Leishmaniases, Cutaneous|Leishmaniasis, American|Leishmaniasis, New World|Leishmaniasis, Old World|New World Leishmaniasis|Old World Leishmaniasis|Oriental Sore|Sore, Oriental Parasitic disease|Skin disease Leishmaniasis, Diffuse Cutaneous MESH:D016774 A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement. MESH:D016773 C01.610.752.300.500.400.350|C01.610.858.560.400.350|C01.920.813.400.350|C17.800.838.775.560.400.350 C01.610.752.300.500.400|C01.610.858.560.400|C01.920.813.400|C17.800.838.775.560.400 Cutaneous Leishmaniases, Diffuse|Cutaneous Leishmaniasis, Diffuse|Diffuse Cutaneous Leishmaniases|Diffuse Cutaneous Leishmaniasis|Leishmaniases, Diffuse Cutaneous Parasitic disease|Skin disease Leishmaniasis, Mucocutaneous MESH:D007897 DO:DOID:9155 A disease characterized by the chronic, progressive spread of lesions from New World cutaneous leishmaniasis caused by species of the L. braziliensis complex to the nasal, pharyngeal, and buccal mucosa some time after the appearance of the initial cutaneous lesion. Nasal obstruction and epistaxis are frequent presenting symptoms. MESH:D016773 C01.610.752.300.500.400.385|C01.610.858.560.400.385|C01.920.813.400.385|C17.800.838.775.560.400.385 C01.610.752.300.500.400|C01.610.858.560.400|C01.920.813.400|C17.800.838.775.560.400 Leishmaniases, Mucocutaneous|Mucocutaneous Leishmaniases|Mucocutaneous Leishmaniasis Parasitic disease|Skin disease Leishmaniasis, Visceral MESH:D007898 DO:DOID:9146|OMIM:608207 A chronic disease caused by LEISHMANIA DONOVANI and transmitted by the bite of several sandflies of the genera Phlebotomus and Lutzomyia. It is commonly characterized by fever, chills, vomiting, anemia, hepatosplenomegaly, leukopenia, hypergammaglobulinemia, emaciation, and an earth-gray color of the skin. The disease is classified into three main types according to geographic distribution: Indian, Mediterranean (or infantile), and African. MESH:D007896 C01.610.752.300.500.510|C01.920.813.510 C01.610.752.300.500|C01.920.813 Black Fever|Fever, Black|Kala Azar|Kala-Azar|KALA-AZAR, SUSCEPTIBILITY TO, 1|KAZA1|LEISHMANIASIS, VISCERAL, SUSCEPTIBILITY TO, 1|Visceral Leishmaniasis Parasitic disease Lelis Syndrome MESH:C564261 MESH:D000052|MESH:D004476|MESH:D007007 C16.131.077.350/C564261|C16.131.831.350/C564261|C16.320.850.250/C564261|C17.800.621.430.530.100/C564261|C17.800.804.350/C564261|C17.800.827.250/C564261|C17.800.946.370/C564261 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.621.430.530.100|C17.800.804.350|C17.800.827.250|C17.800.946.370 Ectodermal Dysplasia, Hypohidrotic, with Acanthosis Nigricans Congenital abnormality|Genetic disease (inborn)|Skin disease Le Marec Bracq Picaud syndrome MESH:C536997 MESH:D000015|MESH:D017880 C05.660.585/C536997|C16.131.077/C536997|C16.131.621.585/C536997 C05.660.585|C16.131.077|C16.131.621.585 Complex malformation syndrome with brachymesomelia Congenital abnormality|Musculoskeletal disease Lemierre Syndrome MESH:D057831 A superinfection of the damaged oropharyngeal mucosa by FUSOBACTERIUM NECROPHORUM leading to the secondary septic THROMBOPHLEBITIS of the internal jugular vein. MESH:D005674|MESH:D010608|MESH:D013924 C01.150.252.400.388.350.700|C07.550.174|C09.775.262|C14.907.355.830.925.770.500|C14.907.617.718.788.500|C14.907.940.740.910.500 C01.150.252.400.388.350|C07.550|C09.775|C14.907.355.830.925.770|C14.907.617.718.788|C14.907.940.740.910 Disease, Lemierre|Disease, Lemierre's|Lemierre Disease|Lemierre's Disease|Lemierres Disease|Lemierre's Syndrome|Lemierres Syndrome|Postanginal Sepses|Postanginal Sepsis|Sepses, Postanginal|Sepsis, Postanginal|Syndrome, Lemierre|Syndrome, Lemierre's Bacterial infection or mycosis|Cardiovascular disease|Ear-nose-throat disease|Mouth disease Lemon and banana signs MESH:C000721327 MESH:D009421 C10.500/C000721327|C16.131.666/C000721327 C10.500|C16.131.666 banana sign|lemon sign Congenital abnormality|Nervous system disease Lennox Gastaut Syndrome MESH:D065768 DO:DOID:0050561 A childhood-onset epilepsy syndrome. MESH:D000073376|MESH:D030342 C10.228.140.490.493.750|C16.320.495 C10.228.140.490.493|C16.320 Lennox-Gastaut Syndrome|Lennox Gastaut Syndromes Genetic disease (inborn)|Nervous system disease Lens Diseases MESH:D007905 DO:DOID:110 Diseases involving the CRYSTALLINE LENS. MESH:D005128 C11.510 C11 Disease, Lens|Diseases, Lens|Lens Disease Eye disease Lens Subluxation MESH:D007906 DO:DOID:11364 Incomplete rupture of the zonule with the displaced lens remaining behind the pupil. In dislocation, or complete rupture, the lens is displaced forward into the anterior chamber or backward into the vitreous body. When congenital, this condition is known as ECTOPIA LENTIS. MESH:D007905 C11.510.598 C11.510 Dislocation, Lens|Dislocations, Lens|Lens Dislocation|Lens Dislocation and Subluxation|Lens Dislocations|Lens Subluxations|Subluxation, Lens|Subluxations, Lens Eye disease Lentiginosis, Centrofacial Neurodysraphic MESH:C563630 MESH:D007911 C17.800.621.430.530.550/C563630 C17.800.621.430.530.550 Lentiginosis, Touraine Type Skin disease Lentiginosis Profusa MESH:C573023 OMIM:151001 MESH:D007911 C17.800.621.430.530.550/C573023 C17.800.621.430.530.550 Lentiginosis, Diffuse|Lentiginosis, Generalized|Lentiginosis, Inherited Patterned|LENTIGINOSIS PROFUSA Skin disease Lentigo MESH:D007911 Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome). MESH:D008548 C17.800.621.430.530.550 C17.800.621.430.530 Lentigines|Lentiginoses|Lentiginosis|Lentigos Skin disease Lentivirus Infections MESH:D016180 Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. MESH:D012192 C01.925.782.815.616 C01.925.782.815 Infection, Lentivirus|Infections, Lentivirus|Lentivirus Infection Viral disease Lenz Majewski hyperostotic dwarfism MESH:C537115 DO:DOID:0111507|OMIM:151050 MESH:D000015|MESH:D001848|MESH:D008607 C05.116.099/C537115|C10.597.606.360/C537115|C16.131.077/C537115|C23.888.592.604.646/C537115|F03.625.539/C537115 C05.116.099|C10.597.606.360|C16.131.077|C23.888.592.604.646|F03.625.539 Delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis|Lenz-Majewski Hyperostotic Dwarfism|LENZ-MAJEWSKI SYNDROME|LMHD|Multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms LEOPARD Syndrome MESH:D044542 DO:DOID:14291|OMIM:151100 An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES. MESH:D000015|MESH:D006330|MESH:D007911|MESH:D011666|MESH:D019465 C05.660.207.525|C14.240.400.695|C14.280.400.695|C14.280.484.716.525|C16.131.077.525|C16.131.240.400.685|C16.131.621.207.525|C17.800.621.430.530.550.525 C05.660.207|C14.240.400|C14.280.400|C14.280.484.716|C16.131.077|C16.131.240.400|C16.131.621.207|C17.800.621.430.530.550 Cardio Cutaneous Syndrome|Cardio-Cutaneous Syndrome|Cardio-Cutaneous Syndromes|Cardiomyopathic Lentiginoses|Cardiomyopathic Lentiginoses, Progressive|Cardiomyopathic Lentiginosis|Cardiomyopathic, Lentiginosis|Cardiomyopathic Lentiginosis, Progressive|Cardiomyopathics, Lentiginosis|Lentigines Syndrome, Multiple|Lentigines Syndromes, Multiple|Lentiginoses, Cardiomyopathic|Lentiginoses, Progressive Cardiomyopathic|Lentiginosis Cardiomyopathic|Lentiginosis, Cardiomyopathic|Lentiginosis Cardiomyopathics|Lentiginosis, Progressive Cardiomyopathic|Leopard Syndrome 1|LEOPARD Syndrome, 1|LEOPARD Syndromes|LPRD1|Multiple Lentigines Syndrome|Multiple Lentigines Syndromes|Noonan Syndrome with Multiple Lentigines|Progressive Cardiomyopathic Lentiginoses|Progressive Cardiomyopathic Lentiginosis|Syndrome, Cardio-Cutaneous|Syndrome, LEOPARD|Syndrome, Multiple Lentigines|Syndromes, Cardio-Cutaneous|Syndromes, LEOPARD|Syndromes, Multiple Lentigines Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Skin disease LEOPARD syndrome, 2 MESH:C537117 DO:DOID:0080549|OMIM:611554 MESH:D044542 C05.660.207.525/C537117|C14.240.400.695/C537117|C14.280.400.695/C537117|C14.280.484.716.525/C537117|C16.131.077.525/C537117|C16.131.240.400.685/C537117|C16.131.621.207.525/C537117|C17.800.621.430.530.550.525/C537117 C05.660.207.525|C14.240.400.695|C14.280.400.695|C14.280.484.716.525|C16.131.077.525|C16.131.240.400.685|C16.131.621.207.525|C17.800.621.430.530.550.525 Leopard Syndrome 2|LPRD2 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Skin disease LEOPARD SYNDROME 3 OMIM:613707 DO:DOID:0080550 MESH:D044542 C05.660.207.525/613707|C14.240.400.695/613707|C14.280.400.695/613707|C14.280.484.716.525/613707|C16.131.077.525/613707|C16.131.240.400.685/613707|C16.131.621.207.525/613707|C17.800.621.430.530.550.525/613707 C05.660.207.525|C14.240.400.695|C14.280.400.695|C14.280.484.716.525|C16.131.077.525|C16.131.240.400.685|C16.131.621.207.525|C17.800.621.430.530.550.525 LPRD3 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Skin disease Leprosy MESH:D007918 DO:DOID:1024|OMIM:246300|OMIM:607572|OMIM:609888|OMIM:610988|OMIM:613223|OMIM:613407 A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid. MESH:D009165 C01.150.252.410.040.552.475.371 C01.150.252.410.040.552.475 Hansen Disease|Hansen's Disease|LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO, INCLUDED|LEPROSY, PAUCIBACILLARY TYPE, SUSCEPTIBILITY TO, 1|LEPROSY, PROTECTION AGAINST, INCLUDED|LEPROSY, SUSCEPTIBILITY TO, 1|LEPROSY, SUSCEPTIBILITY TO, 2|LEPROSY, SUSCEPTIBILITY TO, 3|LEPROSY, SUSCEPTIBILITY TO, 4|LEPROSY, SUSCEPTIBILITY TO, 5|LEPROSY, SUSCEPTIBILITY TO, 6|LPRS1|LPRS2|LPRS3|LPRS4|LPRS5|LPRS6 Bacterial infection or mycosis Leprosy, Borderline MESH:D015439 DO:DOID:1023 A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms. MESH:D056005 C01.150.252.410.040.552.475.371.850.249 C01.150.252.410.040.552.475.371.850 Borderline Leprosies|Borderline Leprosy|Dimorphous Leprosies|Dimorphous Leprosy|Leprosies, Borderline|Leprosies, Dimorphous|Leprosy, Dimorphous Bacterial infection or mycosis Leprosy, Lepromatous MESH:D015440 DO:DOID:10887 A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage. MESH:D056006 C01.150.252.410.040.552.475.371.775.500 C01.150.252.410.040.552.475.371.775 Cutaneous Leprosies|Cutaneous Leprosy|Lepromatous Leprosies|Lepromatous Leprosy|Leprosies, Cutaneous|Leprosies, Lepromatous|Leprosies, Nodular|Leprosy, Cutaneous|Leprosy, Nodular|Nodular Leprosies|Nodular Leprosy Bacterial infection or mycosis Leprosy, Multibacillary MESH:D056006 A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with multibacillary leprosy have six or more lesions with or without positive skin smear results for the causative agent MYCOBACTERIUM LEPRAE. Multibacillary leprosy encompasses borderline lepromatous, midborderline, and lepromatous leprosy. MESH:D007918 C01.150.252.410.040.552.475.371.775 C01.150.252.410.040.552.475.371 Borderline Lepromatous|Lepromatous, Borderline|Lepromatous, Midborderline|Leprosies, Multibacillary|Midborderline Lepromatous|Multibacillary Leprosies|Multibacillary Leprosy Bacterial infection or mycosis Leprosy, Paucibacillary MESH:D056005 A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy. MESH:D007918 C01.150.252.410.040.552.475.371.850 C01.150.252.410.040.552.475.371 Borderline Tuberculoid|Borderline Tuberculoids|Indeterminate Tuberculoid|Indeterminate Tuberculoids|Leprosies, Paucibacillary|Paucibacillary Leprosies|Paucibacillary Leprosy|Tuberculoid, Borderline|Tuberculoid, Indeterminate|Tuberculoids, Borderline|Tuberculoids, Indeterminate Bacterial infection or mycosis Leprosy, Tuberculoid MESH:D015441 DO:DOID:1025 A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. MESH:D056005 C01.150.252.410.040.552.475.371.850.500 C01.150.252.410.040.552.475.371.850 Leprosies, Macular|Leprosies, Neural|Leprosies, Tuberculoid|Leprosy, Macular|Leprosy, Neural|Macular Leprosies|Macular Leprosy|Neural Leprosies|Neural Leprosy|Tuberculoid Leprosies|Tuberculoid Leprosy Bacterial infection or mycosis LEPTIN DEFICIENCY OR DYSFUNCTION OMIM:614962 DO:DOID:0111334 MESH:D008661|MESH:D009767 C16.320.565/614962|C18.452.648/614962|C18.654.726.750.500.700/614962|C23.888.144.699.500.500/614962 C16.320.565|C18.452.648|C18.654.726.750.500.700|C23.888.144.699.500.500 LEPD|OBESITY, MORBID Genetic disease (inborn)|Metabolic disease|Nutrition disorder|Signs and symptoms LEPTIN RECEPTOR DEFICIENCY OMIM:614963 MESH:D008661|MESH:D009767 C16.320.565/614963|C18.452.648/614963|C18.654.726.750.500.700/614963|C23.888.144.699.500.500/614963 C16.320.565|C18.452.648|C18.654.726.750.500.700|C23.888.144.699.500.500 LEPRD|OBESITY, MORBID Genetic disease (inborn)|Metabolic disease|Nutrition disorder|Signs and symptoms Leptospirosis MESH:D007922 DO:DOID:2297 Infections with bacteria of the genus LEPTOSPIRA. MESH:D013145 C01.150.252.400.794.511 C01.150.252.400.794 Cane Cutter Fever|Cane-Cutter Fever|Canicola Fever|Fever, Canicola|Fever, Mud|Fever, Rice-Field|Fevers, Cane-Cutter|Infection, Leptospira|Infection, Leptospira Canicola|Infections, Leptospira|Infections, Leptospira Canicola|Leptospira Canicola Infection|Leptospira Canicola Infections|Leptospira Infection|Leptospira Infections|Leptospiroses|Leptospirosis Canicola|Leptospirosis Canicolas|Mud Fever|Rice Field Fever|Rice-Field Fever|Stuttgart Disease|Swineherd's Disease|Swineherd's Diseases Bacterial infection or mycosis Leriche Syndrome MESH:D007925 A condition caused by occlusion of terminal aorta, the primary branches of the ABDOMINAL AORTA, as in aortoiliac obstruction. Leriche syndrome usually occurs in males and is characterized by IMPOTENCE, absence of a pulse in the femoral arteries, weakness and numbness in the lower back, buttocks, hips, and lower limbs. MESH:D001018|MESH:D001157 C14.907.109.661|C14.907.137.427 C14.907.109|C14.907.137 Leriche's Syndrome|Leriches Syndrome|Syndrome, Leriche|Syndrome, Leriche's Cardiovascular disease Leri pleonosteosis MESH:C537118 MESH:D006228|MESH:D007592|MESH:D009999|MESH:D019066 C05.390.408/C537118|C05.550/C537118|C05.660.585.988.425/C537118|C16.131.621.585.988.500/C537118|C23.550.291.812/C537118|C23.550.751/C537118 C05.390.408|C05.550|C05.660.585.988.425|C16.131.621.585.988.500|C23.550.291.812|C23.550.751 Leri's pleonosteosis|Leri type pleonosteosis Congenital abnormality|Musculoskeletal disease|Pathology (process) Leri-Weil syndrome MESH:C537119 DO:DOID:0060847|OMIM:127300 MESH:D006130|MESH:D010009 C05.116.099.708/C537119|C16.320.728/C537119|C23.550.393/C537119 C05.116.099.708|C16.320.728|C23.550.393 Dyschondrosteosis|DYSCHONDROSTEOSIS;DCO MADELUNG DEFORMITY, INCLUDED|Leri-weill dyschondrosteosis|Léri-Weill Dyschondrosteosis|LWD Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Lesch-Nyhan Syndrome MESH:D007926 DO:DOID:1919|OMIM:300322 An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127) MESH:D011686|MESH:D020739|MESH:D038901 C10.228.140.163.100.425|C10.597.606.360.455.625|C16.320.322.500.625|C16.320.400.525.625|C16.320.565.189.425|C16.320.565.798.594|C18.452.132.100.425|C18.452.648.189.425|C18.452.648.798.594 C10.228.140.163.100|C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C16.320.565.189|C16.320.565.798|C18.452.132.100|C18.452.648.189|C18.452.648.798 Choreoathetosis Self Mutilation Hyperuricemia Syndrome|Choreoathetosis Self-Mutilation Hyperuricemia Syndrome|Choreoathetosis Self Mutilation Syndrome|Choreoathetosis Self-Mutilation Syndrome|Choreoathetosis Self-Mutilation Syndromes|Complete HGPRT Deficiency Disease|Complete HPRT Deficiencies|Complete HPRT Deficiency|Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency|Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency|Deficiencies, Complete HPRT|Deficiencies, HGPRT|Deficiencies, Hypoxanthine Phosphoribosyltransferase|Deficiencies, Total HPRT|Deficiency, Complete HPRT|Deficiency Disease, Complete HGPRT|Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase|Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase|Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase|Deficiency, HGPRT|Deficiency, Hypoxanthine Phosphoribosyltransferase|Deficiency of Guanine Phosphoribosyltransferase|Deficiency of Hypoxanthine Phosphoribosyltransferase|Deficiency, Total HPRT|Guanine Phosphoribosyltransferase Deficiencies|Guanine Phosphoribosyltransferase Deficiency|HGPRT Deficiencies|HGPRT Deficiency|HGPRT Deficiency Disease, Complete|HPRT1 DEFICIENCY|HPRT Deficiencies, Complete|HPRT Deficiencies, Total|HPRT DEFICIENCY|HPRT Deficiency, Complete|HPRT DEFICIENCY, COMPLETE HPRT DEFICIENCY, NEUROLOGIC VARIANT, INCLUDED|HPRT Deficiency, Total|Hyperuricemias, X-Linked|Hyperuricemias, X-Linked Primary|Hyperuricemia Syndrome, Juvenile|Hyperuricemia Syndrome, Primary|Hyperuricemia Syndromes, Juvenile|Hyperuricemia Syndromes, Primary|Hyperuricemia, X-Linked|Hyperuricemia, X-Linked Primary|Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency|Hypoxanthine Guanine Phosphoribosyltransferase Deficiency|Hypoxanthine Phosphoribosyltransferase Deficiencies|Hypoxanthine Phosphoribosyltransferase Deficiency|Hypoxanthine Phosphoribosyl Transferase Deficiency Disease|Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease|Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases|Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome|Juvenile Hyperuricemia Syndrome|Juvenile Hyperuricemia Syndromes|Lesch Nyhan Disease|Lesch-Nyhan Disease|Lesch Nyhan Syndrome|LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT, INCLUDED|LNS|Phosphoribosyltransferase Deficiencies, Guanine|Phosphoribosyltransferase Deficiencies, Hypoxanthine|Phosphoribosyltransferase Deficiency, Guanine|Phosphoribosyltransferase Deficiency, Hypoxanthine|Primary Hyperuricemias, X-Linked|Primary Hyperuricemia Syndrome|Primary Hyperuricemia Syndromes|Primary Hyperuricemia, X-Linked|Self-Mutilation Syndrome, Choreoathetosis|Self-Mutilation Syndromes, Choreoathetosis|Syndrome, Choreoathetosis Self-Mutilation|Syndrome, Juvenile Hyperuricemia|Syndrome, Primary Hyperuricemia|Syndromes, Choreoathetosis Self-Mutilation|Syndromes, Juvenile Hyperuricemia|Syndromes, Primary Hyperuricemia|Total HPRT Deficiencies|Total HPRT Deficiency|Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency|Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency|X Linked Hyperuricemia|X-Linked Hyperuricemia|X-Linked Hyperuricemias|X Linked Primary Hyperuricemia|X-Linked Primary Hyperuricemia|X-Linked Primary Hyperuricemias Genetic disease (inborn)|Metabolic disease|Nervous system disease Lesch-Nyhan Syndrome, Neurologic Variant MESH:C564535 MESH:D007926 C10.228.140.163.100.425/C564535|C10.597.606.360.455.625/C564535|C16.320.322.500.625/C564535|C16.320.400.525.625/C564535|C16.320.565.189.425/C564535|C16.320.565.798.594/C564535|C18.452.132.100.425/C564535|C18.452.648.189.425/C564535|C18.452.648.798.594/C564535 C10.228.140.163.100.425|C10.597.606.360.455.625|C16.320.322.500.625|C16.320.400.525.625|C16.320.565.189.425|C16.320.565.798.594|C18.452.132.100.425|C18.452.648.189.425|C18.452.648.798.594 HPRT Deficiency, Neurologic Variant Genetic disease (inborn)|Metabolic disease|Nervous system disease Lethal Arthrogryposis With Anterior Horn Cell Disease MESH:C567502 OMIM:611890 MESH:D001176|MESH:D016472 C05.550.150/C567502|C05.651.102/C567502|C05.660.077/C567502|C10.574.562/C567502|C10.668.467/C567502|C16.131.621.077/C567502 C05.550.150|C05.651.102|C05.660.077|C10.574.562|C10.668.467|C16.131.621.077 CAAHD|CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE|LAAHD, FORMERLY|LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE, FORMERLY Congenital abnormality|Musculoskeletal disease|Nervous system disease Lethal Congenital Contractural Syndrome 3 MESH:C566961 OMIM:611369 MESH:D003286|MESH:D009133 C05.550.323/C566961|C05.651.197/C566961|C10.597.613.612/C566961|C23.300.070.500/C566961|C23.888.592.608.612/C566961 C05.550.323|C05.651.197|C10.597.613.612|C23.300.070.500|C23.888.592.608.612 LCCS3|LETHAL CONGENITAL CONTRACTURE SYNDROME 3|Multiple Contractural Syndrome, Israeli Bedouin Type B|MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE B Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Lethal congenital contracture syndrome 1 MESH:C537194 DO:DOID:0060559|OMIM:253310 MESH:D001176 C05.550.150/C537194|C05.651.102/C537194|C05.660.077/C537194|C16.131.621.077/C537194 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 LCCS|LCCS1|Lethal autosomal recessive syndrome of multiple congenital contractures|Multiple contracture syndrome, Finnish type Congenital abnormality|Musculoskeletal disease LETHAL CONGENITAL CONTRACTURE SYNDROME 10 OMIM:617022 MESH:D001176 C05.550.150/617022|C05.651.102/617022|C05.660.077/617022|C16.131.621.077/617022 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 LCCS10 Congenital abnormality|Musculoskeletal disease LETHAL CONGENITAL CONTRACTURE SYNDROME 11 OMIM:617194 MESH:D001176 C05.550.150/617194|C05.651.102/617194|C05.660.077/617194|C16.131.621.077/617194 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 LCCS11 Congenital abnormality|Musculoskeletal disease Lethal Congenital Contracture Syndrome 2 MESH:C564369 DO:DOID:0060560|OMIM:607598 MESH:D001176 C05.550.150/C564369|C05.651.102/C564369|C05.660.077/C564369|C16.131.621.077/C564369 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 LCCS2|Multiple Contracture Syndrome, Israeli Bedouin Type A Congenital abnormality|Musculoskeletal disease LETHAL CONGENITAL CONTRACTURE SYNDROME 4 OMIM:614915 MESH:D001176 C05.550.150/614915|C05.651.102/614915|C05.660.077/614915|C16.131.621.077/614915 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 LCCS4 Congenital abnormality|Musculoskeletal disease LETHAL CONGENITAL CONTRACTURE SYNDROME 5 OMIM:615368 MESH:D001176 C05.550.150/615368|C05.651.102/615368|C05.660.077/615368|C16.131.621.077/615368 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 LCCS5|MYOPATHY, CENTRONUCLEAR, LETHAL, AUTOSOMAL RECESSIVE Congenital abnormality|Musculoskeletal disease LETHAL CONGENITAL CONTRACTURE SYNDROME 6 OMIM:616248 MESH:D001176 C05.550.150/616248|C05.651.102/616248|C05.660.077/616248|C16.131.621.077/616248 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 LCCS6 Congenital abnormality|Musculoskeletal disease LETHAL CONGENITAL CONTRACTURE SYNDROME 7 OMIM:616286 MESH:D001176 C05.550.150/616286|C05.651.102/616286|C05.660.077/616286|C16.131.621.077/616286 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 LCCS7 Congenital abnormality|Musculoskeletal disease LETHAL CONGENITAL CONTRACTURE SYNDROME 8 OMIM:616287 MESH:D001176 C05.550.150/616287|C05.651.102/616287|C05.660.077/616287|C16.131.621.077/616287 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 LCCS8 Congenital abnormality|Musculoskeletal disease LETHAL CONGENITAL CONTRACTURE SYNDROME 9 OMIM:616503 MESH:D001176 C05.550.150/616503|C05.651.102/616503|C05.660.077/616503|C16.131.621.077/616503 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 LCCS9 Congenital abnormality|Musculoskeletal disease Lethal congenital erythroderma MESH:C535513 MESH:D003873 C17.800.174.318/C535513|C17.800.815.318/C535513 C17.800.174.318|C17.800.815.318 Erythroderma lethal congenital|Erythroderma, Lethal Congenital Skin disease Lethargy MESH:D053609 A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION. MESH:D019954 C10.597.606.441|C23.888.592.604.444 C10.597.606|C23.888.592.604 Nervous system disease|Signs and symptoms Leukemia MESH:D007938 DO:DOID:1240 A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006) MESH:D009370 C04.557.337 C04.557 Leucocythaemia|Leucocythaemias|Leucocythemia|Leucocythemias|Leukemias Cancer Leukemia, Acute Myelocytic, with Polyposis Coli and Colon Cancer MESH:C565441 MESH:D011125|MESH:D015470 C04.557.337.539.275/C565441|C04.557.470.035.215.100/C565441|C04.588.274.476.411.307.089/C565441|C04.700.100/C565441|C06.301.371.411.307.090/C565441|C06.405.249.411.307.090/C565441|C06.405.469.158.356.090/C565441|C06.405.469.491.307.090/C565441|C06.405.469.578.249/C565441|C16.320.700.100/C565441 C04.557.337.539.275|C04.557.470.035.215.100|C04.588.274.476.411.307.089|C04.700.100|C06.301.371.411.307.090|C06.405.249.411.307.090|C06.405.469.158.356.090|C06.405.469.491.307.090|C06.405.469.578.249|C16.320.700.100 Cancer|Digestive system disease|Genetic disease (inborn) Leukemia, Acute, X-Linked MESH:C564112 MESH:D007938 C04.557.337/C564112 C04.557.337 Cancer Leukemia, Basophilic, Acute MESH:D015471 A rare acute myeloid leukemia in which the primary differentiation is to BASOPHILS. It is characterized by an extreme increase of immature basophilic granulated cells in the bone marrow and blood. Mature basophils are usually sparse. MESH:D015470 C04.557.337.539.275.125 C04.557.337.539.275 Acute Basophilic Leukemia|Acute Basophilic Leukemias|Basophilic Leukemia, Acute|Basophilic Leukemias, Acute|Leukemia, Acute Basophilic|Leukemias, Acute Basophilic Cancer Leukemia, B-Cell MESH:D015448 A malignant disease of the B-LYMPHOCYTES in the bone marrow and/or blood. MESH:D007945 C04.557.337.428.080|C15.604.515.560.080|C20.683.515.528.080 C04.557.337.428|C15.604.515.560|C20.683.515.528 B Cell Leukemia|B-Cell Leukemia|B-Cell Leukemias|B-Cell Lymphocytic Leukemia|B-Cell Lymphocytic Leukemias|B Lymphocytic Leukemia|B-Lymphocytic Leukemia|B-Lymphocytic Leukemias|Leukemia, B Cell|Leukemia, B-Cell Lymphocytic|Leukemia, B-Lymphocytic|Leukemia, Lymphocytic, B Cell|Leukemia, Lymphocytic, B-Cell|Leukemias, B-Cell|Leukemias, B-Cell Lymphocytic|Leukemias, B-Lymphocytic|Lymphocytic Leukemia, B Cell|Lymphocytic Leukemia, B-Cell|Lymphocytic Leukemias, B-Cell Cancer|Immune system disease|Lymphatic disease Leukemia, Biphenotypic, Acute MESH:D015456 DO:DOID:9953 An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS. MESH:D007945 C04.557.337.428.100|C15.604.515.560.100|C20.683.515.528.100 C04.557.337.428|C15.604.515.560|C20.683.515.528 Acute Biphenotypic Leukemia|Acute Biphenotypic Leukemias|Acute Leukemia, Biphenotypic|Acute Leukemia, Hybrid|Acute Leukemia, Mixed-Lineage|Acute Leukemias, Biphenotypic|Acute Leukemias, Hybrid|Acute Leukemias, Mixed-Lineage|B and T Cell Acute Lymphoblastic Leukemia|B- and T-Cell Acute Lymphoblastic Leukemia|B and T Cell Leukemia, Acute|B- and T-Cell Leukemia, Acute|Biphenotypic Acute Leukemia|Biphenotypic Acute Leukemias|Biphenotypic Leukemia, Acute|Biphenotypic Leukemias, Acute|Hybrid Acute Leukemia|Hybrid Acute Leukemias|Leukemia, Acute Biphenotypic|Leukemia, Biphenotypic Acute|Leukemia, Hybrid Acute|Leukemia, Lymphocytic, Acute, Mixed Cell|Leukemia, Lymphocytic, Acute, Mixed-Cell|Leukemia, Mixed, B and T Cell|Leukemia, Mixed, B- and T-Cell|Leukemia, Mixed Cell|Leukemia, Mixed-Cell|Leukemia, Mixed-Lineage Acute|Leukemias, Acute Biphenotypic|Leukemias, Biphenotypic Acute|Leukemias, Hybrid Acute|Leukemias, Mixed-Cell|Leukemias, Mixed-Lineage Acute|Lymphocytic Leukemia, Acute, B and T Cell|Lymphocytic Leukemia, Acute, B- and T-Cell|Mixed-Cell Leukemia|Mixed-Cell Leukemias|Mixed-Lineage Acute Leukemia|Mixed Lineage Acute Leukemias|Mixed-Lineage Acute Leukemias Cancer|Immune system disease|Lymphatic disease Leukemia, Eosinophilic, Acute MESH:D015472 A rare acute myeloid leukemia characterized by abnormal EOSINOPHILS in the bone marrow. MESH:D015470 C04.557.337.539.275.300 C04.557.337.539.275 Acute Eosinophilic Leukemia|Acute Eosinophilic Leukemias|Eosinophilic Leukemia, Acute|Eosinophilic Leukemias, Acute|Leukemia, Acute Eosinophilic|Leukemias, Acute Eosinophilic Cancer Leukemia, Erythroblastic, Acute MESH:D004915 A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood. MESH:D009196|MESH:D015470 C04.557.337.539.275.325|C15.378.190.636.276 C04.557.337.539.275|C15.378.190.636 Acute Erythroblastic Leukemia|Acute Erythroblastic Leukemias|Di Guglielmo Disease|Di Guglielmo's Disease|Di Guglielmos Disease|Disease, Di Guglielmo|Disease, Di Guglielmo's|Erythremic Myeloses|Erythremic Myelosis|Erythroblastic Leukemia, Acute|Erythroblastic Leukemias, Acute|Erythroleukemia|Erythroleukemias|Leukemia, Acute Erythroblastic|Leukemia, Myeloid, Acute, M6|Leukemias, Acute Erythroblastic|Myeloid Leukemia, Acute, M6|Myeloses, Erythremic|Myelosis, Erythremic Blood disease|Cancer Leukemia, Experimental MESH:D007942 Leukemia induced experimentally in animals by exposure to leukemogenic agents, such as VIRUSES; RADIATION; or by TRANSPLANTATION of leukemic tissues. MESH:D007938|MESH:D009374 C04.557.337.372|C04.619.531 C04.557.337|C04.619 Animal Leukemia Model|Animal Leukemia Models|Experimental Leukemia|Experimental Leukemias|Leukemia Model, Animal|Leukemia Models, Animal|Leukemias, Experimental Cancer Leukemia, Feline MESH:D016582 A neoplastic disease of cats frequently associated with feline leukemia virus infection. MESH:D002371|MESH:D007938|MESH:D012192 C01.925.782.815.622|C04.557.337.385|C22.180.500 C01.925.782.815|C04.557.337|C22.180 Feline Leukemia|Feline Leukemias|Leukemias, Feline Animal disease|Cancer|Viral disease Leukemia, Hairy Cell MESH:D007943 DO:DOID:285 A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of 'hairy' or 'flagellated' cells in the blood and bone marrow. MESH:D007938|MESH:D008232 C04.557.337.415|C15.604.515.553|C20.683.515.517 C04.557.337|C15.604.515|C20.683.515 Hairy Cell Leukemia|Hairy Cell Leukemias|Leukemias, Hairy Cell|Leukemic Reticuloendothelioses|Leukemic Reticuloendotheliosis|Reticuloendothelioses, Leukemic|Reticuloendotheliosis, Leukemic Cancer|Immune system disease|Lymphatic disease Leukemia L1210 MESH:D007939 An experimental LYMPHOCYTIC LEUKEMIA of mice. MESH:D007942 C04.557.337.372.594|C04.619.531.594 C04.557.337.372|C04.619.531 L 1210, Leukemia|L1210, Leukemia|Leukemia L 1210 Cancer Leukemia L5178 MESH:D007940 An experimental lymphocytic leukemia of mice. MESH:D007942 C04.557.337.372.602|C04.619.531.602 C04.557.337.372|C04.619.531 L5178, Leukemia|L5178, Lymphoma|Lymphoma L5178 Cancer Leukemia, Large Granular Lymphocytic MESH:D054066 A spectrum of disorders characterized by clonal expansions of the peripheral blood LYMPHOCYTE populations known as large granular lymphocytes which contain abundant cytoplasm and azurophilic granules. Subtypes develop from either CD3-negative NATURAL KILLER CELLS or CD3-positive T-CELLS. The clinical course of both subtypes can vary from spontaneous regression to progressive, malignant disease. MESH:D015458 C04.557.337.428.580.049|C15.604.515.560.575.049|C20.683.515.528.582.049 C04.557.337.428.580|C15.604.515.560.575|C20.683.515.528.582 Aggressive Natural Killer Cell Leukemia|Aggressive NK Cell Leukemia|Granular Lymphocytoses, Large|Granular Lymphocytosis, Large|Large Granular Lymphocyte Leukemia|Large Granular Lymphocytoses|Large Granular Lymphocytosis|Leukemia, LGL|Leukemia, Lymphocytic, Large Granular|Leukemia, Natural Killer Cell Large Granular Lymphocytic|Leukemia, NK LGL|Leukemia, NK-LGL|Leukemias, LGL|Leukemias, NK-LGL|Leukemias, T-LGL|Leukemia, T Cell Large Granular Lymphocytic|Leukemia, T-Cell Large Granular Lymphocytic|Leukemia, T LGL|Leukemia, T-LGL|LGL Leukemia|LGL Leukemias|Lymphocytoses, Large Granular|Lymphocytosis, Large Granular|Lymphoproliferative Disease of Granular Lymphocytes|Lymphoproliferative Disease of Large Granular Lymphocytes|Natural Killer Cell Large Granular Lymphocytic Leukemia|NK Cell Large Granular Lymphocytic Leukemia|NK-Cell Large Granular Lymphocytic Leukemia|NK LGL Leukemia|NK-LGL Leukemia|NK-LGL Leukemias|T Cell Large Granular Lymphocyte Leukemia|T-Cell Large Granular Lymphocyte Leukemia|T Cell Large Granular Lymphocytic Leukemia|T-Cell Large Granular Lymphocytic Leukemia|T LGL Leukemia|T-LGL Leukemia|T-LGL Leukemias Cancer|Immune system disease|Lymphatic disease Leukemia, Lymphocytic, Chronic, B-Cell MESH:D015451 DO:DOID:1040|OMIM:109543|OMIM:151400|OMIM:609630|OMIM:612557|OMIM:612558|OMIM:612559 A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease. MESH:D002908|MESH:D015448 C04.557.337.428.080.125|C15.604.515.560.080.125|C20.683.515.528.080.125|C23.550.291.500.483 C04.557.337.428.080|C15.604.515.560.080|C20.683.515.528.080|C23.550.291.500 B Cell Chronic Lymphocytic Leukemia|B-Cell Chronic Lymphocytic Leukemia|B Cell Leukemia, Chronic|B-Cell Leukemia, Chronic|B-Cell Leukemias, Chronic|B-Cell Malignancies, Low-Grade|B Cell Malignancy, Low Grade|B-Cell Malignancy, Low-Grade|BCLL|B Lymphocytic Leukemia, Chronic|B-Lymphocytic Leukemia, Chronic|B-Lymphocytic Leukemias, Chronic|Chronic B-Cell Leukemia|Chronic B-Cell Leukemias|Chronic B-Lymphocytic Leukemia|Chronic B-Lymphocytic Leukemias|Chronic Lymphatic Leukemia|Chronic Lymphatic Leukemias|Chronic Lymphoblastic Leukemia|Chronic Lymphoblastic Leukemias|Chronic Lymphocytic Leukemia|Chronic Lymphocytic Leukemias|CLL|CLL Lymphoplasmacytoid Lymphoma|CLL Lymphoplasmacytoid Lymphomas|CLLS1|CLLS2|CLLS3|CLLS4|CLLS5|DBM|Diffuse Well Differentiated Lymphocytic Lymphoma|Diffuse Well-Differentiated Lymphocytic Lymphoma|Disrupted In B Cell Malignancy|Disrupted In B-Cell Malignancy|Leukemia, B Cell, Chronic|Leukemia, B-Cell, Chronic|Leukemia, Chronic B-Cell|Leukemia, Chronic B-Lymphocytic|Leukemia, Chronic Lymphatic|Leukemia, Chronic Lymphocytic|Leukemia, Chronic Lymphocytic, B-Cell|LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1|LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2|LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 3|LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 4|LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 5|Leukemia, Lymphoblastic, Chronic|Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B Cell|Leukemias, Chronic B-Cell|Leukemias, Chronic B-Lymphocytic|Leukemias, Chronic Lymphatic|Leukemias, Chronic Lymphoblastic|Low-Grade B-Cell Malignancies|Low-Grade B-Cell Malignancy|Lymphatic Leukemia, Chronic|Lymphatic Leukemias, Chronic|Lymphoblastic Leukemia, Chronic|Lymphoblastic Leukemias, Chronic|Lymphocytic Leukemia, Chronic|Lymphocytic Leukemia, Chronic, B Cell|Lymphocytic Leukemia, Chronic, B-Cell|Lymphocytic Leukemias, Chronic|Lymphocytic Lymphoma|Lymphocytic Lymphoma, Diffuse, Well Differentiated|Lymphocytic Lymphoma, Diffuse, Well-Differentiated|Lymphocytic Lymphomas|Lymphocytic Lymphoma, Small|Lymphocytic Lymphomas, Small|Lymphocytic Lymphomas, Well-Differentiated|Lymphocytic Lymphoma, Well Differentiated|Lymphocytic Lymphoma, Well-Differentiated|Lymphoma, CLL Lymphoplasmacytoid|Lymphoma, Lymphocytic|Lymphoma, Lymphocytic, Diffuse, Well Differentiated|Lymphoma, Lymphocytic, Diffuse, Well-Differentiated|Lymphoma, Lymphocytic, Well Differentiated|Lymphoma, Lymphocytic, Well-Differentiated|Lymphoma, Lymphoplasmacytoid, CLL|Lymphomas, CLL Lymphoplasmacytoid|Lymphomas, Lymphocytic|Lymphoma, Small Cell|Lymphoma, Small-Cell|Lymphoma, Small Lymphocytic|Lymphoma, Small Lymphocytic, Plasmacytoid|Lymphomas, Small-Cell|Lymphomas, Small Lymphocytic|Lymphomas, Well-Differentiated Lymphocytic|Lymphoma, Well-Differentiated Lymphocytic|Lymphoplasmacytoid Lymphoma, CLL|Lymphoplasmacytoid Lymphomas, CLL|Malignancies, Low-Grade B-Cell|Malignancy, Low-Grade B-Cell|Small Cell Lymphoma|Small-Cell Lymphoma|Small-Cell Lymphomas|Small Lymphocytic Lymphoma|Small Lymphocytic Lymphomas|Well-Differentiated Lymphocytic Lymphoma|Well-Differentiated Lymphocytic Lymphomas Cancer|Immune system disease|Lymphatic disease|Pathology (process) Leukemia, Lymphoid MESH:D007945 DO:DOID:1037 Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts. MESH:D007938|MESH:D008232 C04.557.337.428|C15.604.515.560|C20.683.515.528 C04.557.337|C15.604.515|C20.683.515 Leukemia, Lymphocytic|Leukemias, Lymphocytic|Leukemias, Lymphoid|Lymphocytic Leukemia|Lymphocytic Leukemias|Lymphoid Leukemia|Lymphoid Leukemias Cancer|Immune system disease|Lymphatic disease Leukemia-Lymphoma, Adult T-Cell MESH:D015459 DO:DOID:0050523 Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa. MESH:D015458 C04.557.337.428.580.100|C15.604.515.560.575.100|C20.683.515.528.582.100 C04.557.337.428.580|C15.604.515.560.575|C20.683.515.528.582 Adult T-Cell Leukemia|Adult T-Cell Leukemia-Lymphoma|Adult T-Cell Leukemia-Lymphomas|Adult T-Cell Leukemias|ATLL|HTLV Associated Leukemia Lymphoma|HTLV-Associated Leukemia-Lymphoma|HTLV-Associated Leukemia-Lymphomas|HTLV I Associated T Cell Leukemia Lymphoma|HTLV-I-Associated T-Cell Leukemia-Lymphoma|HTLV-I-Associated T-Cell Leukemia-Lymphomas|Human T Cell Leukemia Lymphoma|Human T-Cell Leukemia-Lymphoma|Human T-Cell Leukemia-Lymphomas|Human T Lymphotropic Virus Associated Leukemia Lymphoma|Human T Lymphotropic Virus-Associated Leukemia-Lymphoma|Leukemia, Adult T Cell|Leukemia, Adult T-Cell|Leukemia Lymphoma, Adult T Cell|Leukemia-Lymphoma, HTLV-Associated|Leukemia-Lymphoma, HTLV-I-Associated T-Cell|Leukemia-Lymphoma, Human T-Cell|Leukemia-Lymphomas, Adult T-Cell|Leukemia-Lymphomas, HTLV-Associated|Leukemia-Lymphomas, HTLV-I-Associated T-Cell|Leukemia-Lymphomas, Human T-Cell|Leukemia Lymphoma, T Cell, Acute, HTLV I Associated|Leukemia-Lymphoma, T-Cell, Acute, HTLV-I-Associated|Leukemias, Adult T-Cell|T Cell Leukemia, Adult|T-Cell Leukemia, Adult|T Cell Leukemia Lymphoma, Adult|T-Cell Leukemia-Lymphoma, Adult|T Cell Leukemia Lymphoma, HTLV I Associated|T-Cell Leukemia-Lymphoma, HTLV-I-Associated|T-Cell Leukemia-Lymphoma, Human|T-Cell Leukemia-Lymphomas, Adult|T-Cell Leukemia-Lymphomas, HTLV-I-Associated|T-Cell Leukemia-Lymphomas, Human|T-Cell Leukemias, Adult Cancer|Immune system disease|Lymphatic disease Leukemia, Mast-Cell MESH:D007946 DO:DOID:9254 A form of systemic mastocytosis (MASTOCYTOSIS, SYSTEMIC) characterized by the presence of large numbers of tissue MAST CELLS in the peripheral blood without skin lesions. It is a high-grade LEUKEMIA disease with bone marrow smear of >20% MAST CELLS, multi-organ failure and a short survival. MESH:D007938|MESH:D015470|MESH:D034721 C04.557.337.440|C04.557.337.539.275.440|C20.762.750.750.500 C04.557.337|C04.557.337.539.275|C20.762.750.750 Leukemia, Mast Cell|Leukemias, Mast-Cell|Mast Cell Leukemia|Mast-Cell Leukemia|Mast-Cell Leukemias Cancer|Immune system disease Leukemia, Megakaryoblastic, Acute MESH:D007947 DO:DOID:8761 An acute myeloid leukemia in which 20-30% of the bone marrow or peripheral blood cells are of megakaryocyte lineage. MYELOFIBROSIS or increased bone marrow RETICULIN is common. MESH:D015470 C04.557.337.539.275.450 C04.557.337.539.275 Acute Megakaryoblastic Leukemia|Acute Megakaryoblastic Leukemias|Acute Megakaryocytic Leukemia|Acute Megakaryocytic Leukemias|Leukemia, Acute Megakaryoblastic|Leukemia, Acute Megakaryocytic|Leukemia, Megakaryocytic|Leukemia, Megakaryocytic, Acute|Leukemia, Myeloid, Acute, M7|Leukemias, Acute Megakaryoblastic|Leukemias, Acute Megakaryocytic|Leukemias, Megakaryocytic|Megakaryoblastic Leukemia, Acute|Megakaryoblastic Leukemias, Acute|Megakaryocytic Leukemia|Megakaryocytic Leukemia, Acute|Megakaryocytic Leukemias|Megakaryocytic Leukemias, Acute|Myeloid Leukemia, Acute, M7 Cancer Leukemia, Megakaryoblastic, of Down Syndrome MESH:C566025 MESH:D004314|MESH:D007947 C04.557.337.539.275.450/C566025|C10.597.606.360.220/C566025|C16.131.077.327/C566025|C16.131.260.260/C566025|C16.320.180.260/C566025 C04.557.337.539.275.450|C10.597.606.360.220|C16.131.077.327|C16.131.260.260|C16.320.180.260 Cancer|Congenital abnormality|Genetic disease (inborn)|Nervous system disease Leukemia, Monocytic, Acute MESH:D007948 DO:DOID:8864 An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES. MESH:D015470 C04.557.337.539.275.484 C04.557.337.539.275 Acute Monoblastic Leukemia|Acute Monoblastic Leukemias|Acute Monocytic Leukemia|Acute Monocytic Leukemias|Leukemia, Acute Monocytic|Leukemia, Monoblastic, Acute|Leukemia, Myeloid, Acute, M5|Leukemia, Myeloid, Schilling Type|Leukemia, Myeloid, Schilling-Type|Leukemias, Acute Monoblastic|Leukemias, Acute Monocytic|Leukemia, Schilling-Type Myeloid|Monoblastic Leukemia, Acute|Monoblastic Leukemias, Acute|Monocytic Leukemia, Acute|Monocytic Leukemias, Acute|Myeloid Leukemia, Acute, M5|Myeloid Leukemia, Schilling Type|Myeloid Leukemia, Schilling-Type|Schilling-Type Myeloid Leukemia Cancer Leukemia, Myelogenous, Chronic, BCR-ABL Positive MESH:D015464 OMIM:608232 Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS. MESH:D002908|MESH:D007951|MESH:D009196 C04.557.337.539.250|C15.378.190.636.370|C23.550.291.500.485 C04.557.337.539|C15.378.190.636|C23.550.291.500 ACML, INCLUDED|Chronic Granulocytic Leukemia|Chronic Granulocytic Leukemias|Chronic Myelocytic Leukemia|Chronic Myelocytic Leukemias|Chronic Myelogenous Leukemia|Chronic Myelogenous Leukemias|Chronic Myeloid Leukemia|Chronic Myeloid Leukemias|CML|Granulocytic Leukemia, Chronic|Granulocytic Leukemias, Chronic|Leukemia, Chronic Granulocytic|Leukemia, Chronic Myelocytic|Leukemia, Chronic Myelogenous|LEUKEMIA, CHRONIC MYELOGENOUS LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATANIB, INCLUDED|Leukemia, Chronic Myeloid|LEUKEMIA, CHRONIC MYELOID, ATYPICAL, INCLUDED|Leukemia, Granulocytic, Chronic|Leukemia, Myelocytic, Chronic|Leukemia, Myelogenous, Chronic|Leukemia, Myelogenous, Ph1 Positive|Leukemia, Myelogenous, Ph1-Positive|Leukemia, Myeloid, Chronic|Leukemia, Myeloid, Ph1 Positive|Leukemia, Myeloid, Ph1-Positive|Leukemia, Myeloid, Philadelphia Positive|Leukemia, Myeloid, Philadelphia-Positive|Leukemia, Ph1-Positive Myelogenous|Leukemia, Ph1-Positive Myeloid|Leukemia, Philadelphia-Positive Myeloid|Leukemias, Chronic Granulocytic|Leukemias, Chronic Myelocytic|Leukemias, Chronic Myelogenous|Leukemias, Chronic Myeloid|Leukemias, Ph1-Positive Myelogenous|Leukemias, Ph1-Positive Myeloid|Leukemias, Philadelphia-Positive Myeloid|Myelocytic Leukemia, Chronic|Myelocytic Leukemias, Chronic|Myelogenous Leukemia, Chronic|Myelogenous Leukemia, Ph1 Positive|Myelogenous Leukemia, Ph1-Positive|Myelogenous Leukemias, Chronic|Myelogenous Leukemias, Ph1-Positive|Myeloid Leukemia, Chronic|Myeloid Leukemia, Ph1 Positive|Myeloid Leukemia, Ph1-Positive|Myeloid Leukemia, Philadelphia Positive|Myeloid Leukemia, Philadelphia-Positive|Myeloid Leukemias, Chronic|Myeloid Leukemias, Ph1-Positive|Myeloid Leukemias, Philadelphia-Positive|Ph1-Positive Myelogenous Leukemia|Ph1-Positive Myelogenous Leukemias|Ph1-Positive Myeloid Leukemia|Ph1-Positive Myeloid Leukemias|Philadelphia-Positive Myeloid Leukemia|Philadelphia-Positive Myeloid Leukemias Blood disease|Cancer|Pathology (process) Leukemia, Myeloid MESH:D007951 DO:DOID:8593|DO:DOID:8692 Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites. MESH:D007938 C04.557.337.539 C04.557.337 Chronic Monocytic Leukemia|Chronic Monocytic Leukemias|Granulocytic Leukemia|Granulocytic Leukemias|Leukemia, Chronic Monocytic|Leukemia, Granulocytic|Leukemia, Monocytic, Chronic|Leukemia, Myelocytic|Leukemia, Myelogenous|Leukemias, Chronic Monocytic|Leukemias, Granulocytic|Leukemias, Myelocytic|Leukemias, Myelogenous|Leukemias, Myeloid|Monocytic Leukemia, Chronic|Monocytic Leukemias, Chronic|Myelocytic Leukemia|Myelocytic Leukemias|Myelogenous Leukemia|Myelogenous Leukemias|Myeloid Leukemia|Myeloid Leukemias Cancer Leukemia, Myeloid, Accelerated Phase MESH:D015465 The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS. MESH:D015464 C04.557.337.539.250.300|C15.378.190.636.370.300|C23.550.291.500.485.300 C04.557.337.539.250|C15.378.190.636.370|C23.550.291.500.485 Leukemia, Myelogenous, Aggressive Phase|Leukemia, Myelogenous, Aggressive-Phase|Leukemia, Myeloid, Accelerated-Phase|Leukemia, Myeloid, Aggressive-Phase|Myelogenous Leukemia, Chronic, Aggressive Phase|Myelogenous Leukemia, Chronic, Aggressive-Phase|Myeloid Leukemia, Chronic, Accelerated Phase|Myeloid Leukemia, Chronic, Accelerated-Phase|Myeloid Leukemia, Chronic, Aggressive Phase|Myeloid Leukemia, Chronic, Aggressive-Phase Blood disease|Cancer|Pathology (process) Leukemia, Myeloid, Acute MESH:D015470 DO:DOID:0081086|DO:DOID:0081087|DO:DOID:9119|OMIM:601626 Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES. MESH:D007951 C04.557.337.539.275 C04.557.337.539 Acute Myeloblastic Leukemia|Acute Myeloblastic Leukemias|Acute Myelocytic Leukemia|Acute Myelocytic Leukemias|Acute Myelogenous Leukemia|Acute Myelogenous Leukemias|Acute Myeloid Leukemia|Acute Myeloid Leukemias|Acute Myeloid Leukemia with Maturation|Acute Myeloid Leukemia without Maturation|Acute Nonlymphoblastic Leukemia|Acute Nonlymphoblastic Leukemias|Acute Nonlymphocytic Leukemia|Acute Nonlymphocytic Leukemias|AML|ANLL|Leukemia, Acute Myeloblastic|Leukemia, Acute Myelocytic|Leukemia, Acute Myelogenous|LEUKEMIA, ACUTE MYELOGENOUS LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO, INCLUDED|Leukemia, Acute Myeloid|Leukemia, Acute Nonlymphoblastic|Leukemia, Acute Nonlymphocytic|Leukemia, Myeloblastic, Acute|Leukemia, Myelocytic, Acute|Leukemia, Myelogenous, Acute|Leukemia, Myeloid, Acute, M1|Leukemia, Myeloid, Acute, M2|Leukemia, Nonlymphoblastic, Acute|Leukemia, Nonlymphocytic, Acute|Leukemias, Acute Myeloblastic|Leukemias, Acute Myelocytic|Leukemias, Acute Myelogenous|Leukemias, Acute Myeloid|Leukemias, Acute Nonlymphoblastic|Leukemias, Acute Nonlymphocytic|Myeloblastic Leukemia, Acute|Myeloblastic Leukemias, Acute|Myelocytic Leukemia, Acute|Myelocytic Leukemias, Acute|Myelogenous Leukemia, Acute|Myelogenous Leukemias, Acute|Myeloid Leukemia, Acute|Myeloid Leukemia, Acute, M1|Myeloid Leukemia, Acute, M2|Myeloid Leukemias, Acute|Nonlymphoblastic Leukemia, Acute|Nonlymphoblastic Leukemias, Acute|Nonlymphocytic Leukemia, Acute|Nonlymphocytic Leukemias, Acute Cancer Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative MESH:D054438 DO:DOID:0060597 A myelodysplastic/myeloproliferative disorder characterized by myelodysplasia associated with bone marrow and peripheral blood patterns similar to CHRONIC MYELOID LEUKEMIA, but cytogenetically lacking a PHILADELPHIA CHROMOSOME or bcr/abl fusion gene (GENES, ABL). MESH:D002908|MESH:D007951|MESH:D054437 C04.557.337.539.300|C15.378.190.615.500|C23.550.291.500.493 C04.557.337.539|C15.378.190.615|C23.550.291.500 Atypical Chronic Myeloid Leukemia|Chronic Myeloid Leukemia, Atypical|Leukemia, Myelogenous, Ph1 Negative|Leukemia, Myelogenous, Ph1-Negative|Leukemia, Myeloid, Chronic, Atypical|Leukemia, Myeloid, Ph1 Negative|Leukemia, Myeloid, Ph1-Negative|Leukemia, Myeloid, Philadelphia Negative|Leukemia, Myeloid, Philadelphia-Negative|Leukemia, Ph1-Negative Myelogenous|Leukemia, Ph1-Negative Myeloid|Leukemia, Philadelphia-Negative Myeloid|Leukemias, Ph1-Negative Myelogenous|Leukemias, Ph1-Negative Myeloid|Leukemias, Philadelphia-Negative Myeloid|Myelogenous Leukemia, Ph1 Negative|Myelogenous Leukemia, Ph1-Negative|Myelogenous Leukemias, Ph1-Negative|Myeloid Leukemia, Ph1 Negative|Myeloid Leukemia, Ph1-Negative|Myeloid Leukemia, Philadelphia Negative|Myeloid Leukemia, Philadelphia-Negative|Myeloid Leukemias, Ph1-Negative|Myeloid Leukemias, Philadelphia-Negative|Ph1-Negative Myelogenous Leukemia|Ph1-Negative Myelogenous Leukemias|Ph1-Negative Myeloid Leukemia|Ph1-Negative Myeloid Leukemias|Philadelphia-Negative Myeloid Leukemia|Philadelphia-Negative Myeloid Leukemias Blood disease|Cancer|Pathology (process) Leukemia, Myeloid, Chronic-Phase MESH:D015466 The initial phase of chronic myeloid leukemia consisting of an relatively indolent period lasting from 4 to 7 years. Patients range from asymptomatic to those exhibiting ANEMIA; SPLENOMEGALY; and increased cell turnover. There are 5% or fewer blast cells in the blood and bone marrow in this phase. MESH:D015464 C04.557.337.539.250.400|C15.378.190.636.370.400|C23.550.291.500.485.400 C04.557.337.539.250|C15.378.190.636.370|C23.550.291.500.485 Granulocytic Leukemia, Chronic, Stable Phase|Granulocytic Leukemia, Chronic, Stable-Phase|Leukemia, Granulocytic, Chronic Phase|Leukemia, Granulocytic, Chronic-Phase|Leukemia, Myelogenous, Chronic Phase|Leukemia, Myelogenous, Chronic-Phase|Leukemia, Myeloid, Chronic Phase|Leukemia, Myeloid, Stable Phase|Leukemia, Myeloid, Stable-Phase|Myelogenous Leukemia, Chronic, Chronic Phase|Myelogenous Leukemia, Chronic, Chronic-Phase|Myeloid Leukemia, Chronic, Chronic Phase|Myeloid Leukemia, Chronic, Chronic-Phase|Myeloid Leukemia, Chronic, Stable-Phase Blood disease|Cancer|Pathology (process) Leukemia, Myelomonocytic, Acute MESH:D015479 DO:DOID:0081082 A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin. MESH:D007951 C04.557.337.539.520 C04.557.337.539 Acute Myelomonocytic Leukemia|Acute Myelomonocytic Leukemias|Leukemia, Acute Myelomonocytic|Leukemia, Myeloid, Acute, M4|Leukemia, Myeloid, Naegeli-Type|Leukemia, Naegeli-Type Myeloid|Leukemias, Acute Myelomonocytic|Myeloid Leukemia, Acute, M4|Myeloid Leukemia, Naegeli Type|Myeloid Leukemia, Naegeli-Type|Myelomonocytic Leukemia, Acute|Myelomonocytic Leukemias, Acute|Naegeli-Type Myeloid Leukemia Cancer Leukemia, Myelomonocytic, Chronic MESH:D015477 A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. MESH:D002908|MESH:D007951|MESH:D054437 C04.557.337.539.522|C15.378.190.615.510|C23.550.291.500.495 C04.557.337.539|C15.378.190.615|C23.550.291.500 Chronic Myelomonocytic Leukemia|Chronic Myelomonocytic Leukemias|Leukemia, Chronic Myelomonocytic|Leukemias, Chronic Myelomonocytic|Myelomonocytic Leukemia, Chronic|Myelomonocytic Leukemias, Chronic Blood disease|Cancer|Pathology (process) Leukemia, Myelomonocytic, Juvenile MESH:D054429 DO:DOID:0050458|OMIM:607785 A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder. MESH:D007951|MESH:D054437 C04.557.337.539.525|C15.378.190.615.520 C04.557.337.539|C15.378.190.615 CMML, INCLUDED|JMML|Juvenile Chronic Myelogenous Leukemia|Juvenile Myelomonocytic Leukemia|Juvenile Myelomonocytic Leukemias|Leukemia, Juvenile Myelomonocytic|LEUKEMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC MYELOMONOCYTIC, INCLUDED|Myelomonocytic Leukemia, Juvenile|Myelomonocytic Leukemias, Juvenile Blood disease|Cancer Leukemia, Neutrophilic, Chronic MESH:D015467 A rare myeloproliferative disorder that is characterized by a sustained, mature neutrophilic leukocytosis. No monocytosis, EOSINOPHILIA, or basophilia is present, nor is there a PHILADELPHIA CHROMOSOME or bcr-abl fusion gene (GENES, ABL). MESH:D002908|MESH:D009196 C15.378.190.636.380|C23.550.291.500.497 C15.378.190.636|C23.550.291.500 Chronic Neutrophilic Leukemia|Chronic Neutrophilic Leukemias|Leukemia, Chronic Neutrophilic|Leukemias, Chronic Neutrophilic|Neutrophilic Leukemia, Chronic|Neutrophilic Leukemias, Chronic Blood disease|Pathology (process) Leukemia P388 MESH:D007941 An experimental lymphocytic leukemia originally induced in DBA/2 mice by painting with methylcholanthrene. MESH:D007942 C04.557.337.372.782|C04.619.531.782 C04.557.337.372|C04.619.531 P388D(1) Leukemia|P388, Leukemia Cancer Leukemia, Plasma Cell MESH:D007952 DO:DOID:9513 A rare, aggressive variant of MULTIPLE MYELOMA characterized by the circulation of excessive PLASMA CELLS in the peripheral blood. It can be a primary manifestation of multiple myeloma or develop as a terminal complication during the disease. MESH:D007938|MESH:D009101 C04.557.337.595|C04.557.595.500.500|C20.683.515.845.500 C04.557.337|C04.557.595.500|C20.683.515.845 Leukemia, Plasmacytic|Leukemias, Plasma Cell|Leukemias, Plasmacytic|Plasma Cell Leukemia|Plasma Cell Leukemias|Plasmacytic Leukemia|Plasmacytic Leukemias Cancer|Immune system disease Leukemia, Prolymphocytic MESH:D015463 DO:DOID:1039 A chronic leukemia characterized by a large number of circulating prolymphocytes. It can arise spontaneously or as a consequence of transformation of CHRONIC LYMPHOCYTIC LEUKEMIA. MESH:D007945 C04.557.337.428.565|C15.604.515.560.550|C20.683.515.528.565 C04.557.337.428|C15.604.515.560|C20.683.515.528 Leukemias, Prolymphocytic|Prolymphocytic Leukemia|Prolymphocytic Leukemias Cancer|Immune system disease|Lymphatic disease Leukemia, Prolymphocytic, B-Cell MESH:D054403 A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly. MESH:D015448|MESH:D015463 C04.557.337.428.080.562|C04.557.337.428.565.745|C15.604.515.560.080.562|C15.604.515.560.550.745|C20.683.515.528.080.562|C20.683.515.528.565.745 C04.557.337.428.080|C04.557.337.428.565|C15.604.515.560.080|C15.604.515.560.550|C20.683.515.528.080|C20.683.515.528.565 B Cell Prolymphocytic Leukemia|B-Cell Prolymphocytic Leukemia|B-Cell Prolymphocytic Leukemias|Leukemia, B-Cell Prolymphocytic|Leukemias, B-Cell Prolymphocytic|Prolymphocytic Leukemia, B-Cell|Prolymphocytic Leukemias, B-Cell Cancer|Immune system disease|Lymphatic disease Leukemia, Prolymphocytic, T-Cell MESH:D015461 A lymphoid leukemia characterized by a profound LYMPHOCYTOSIS with or without LYMPHADENOPATHY, hepatosplenomegaly, frequently rapid progression, and short survival. It was formerly called T-cell chronic lymphocytic leukemia. MESH:D015458|MESH:D015463 C04.557.337.428.565.750|C04.557.337.428.580.075|C15.604.515.560.550.750|C15.604.515.560.575.125|C20.683.515.528.565.750|C20.683.515.528.582.125 C04.557.337.428.565|C04.557.337.428.580|C15.604.515.560.550|C15.604.515.560.575|C20.683.515.528.565|C20.683.515.528.582 Leukemia, Lymphocytic, Chronic, T Cell|Leukemia, Lymphocytic, Chronic, T-Cell|Leukemias, T-Cell Prolymphocytic|Leukemia, T Cell, Chronic|Leukemia, T-Cell, Chronic|Leukemia, T-Cell Prolymphocytic|Lymphocytic Leukemia, T Cell, Chronic|Lymphocytic Leukemia, T-Cell, Chronic|Prolymphocytic Leukemias, T-Cell|Prolymphocytic Leukemia, T-Cell|T-Cell Leukemia, Chronic|T Cell Prolymphocytic Leukemia|T-Cell Prolymphocytic Leukemia|T-Cell Prolymphocytic Leukemias|T-Lymphocytic Leukemia, Chronic Cancer|Immune system disease|Lymphatic disease Leukemia, Promyelocytic, Acute MESH:D015473 DO:DOID:0060318|OMIM:612376 An acute myeloid leukemia in which abnormal PROMYELOCYTES predominate. It is frequently associated with DISSEMINATED INTRAVASCULAR COAGULATION. MESH:D015470 C04.557.337.539.275.700 C04.557.337.539.275 Acute Promyelocytic Leukemia|Acute Promyelocytic Leukemias|AML M3|ANLL, M3|APL|Leukemia, Acute Promyelocytic|Leukemia, Myeloid, Acute, M3|Leukemia, Progranulocytic|M3 ANLL|Myeloid Leukemia, Acute, M3|Progranulocytic Leukemia|Promyelocytic Leukemia, Acute Cancer Leukemia, Radiation-Induced MESH:D007953 Leukemia produced by exposure to IONIZING RADIATION or NON-IONIZING RADIATION. MESH:D007938|MESH:D009381|MESH:D011832 C04.557.337.650|C04.682.512|C26.733.345 C04.557.337|C04.682|C26.733 Leukemia, Radiation Induced|Leukemias, Radiation-Induced|Radiation Induced Leukemia|Radiation-Induced Leukemia|Radiation-Induced Leukemias Cancer|Wounds and injuries Leukemia, T-Cell MESH:D015458 DO:DOID:5603 A malignant disease of the T-LYMPHOCYTES in the bone marrow, thymus, and/or blood. MESH:D007945 C04.557.337.428.580|C15.604.515.560.575|C20.683.515.528.582 C04.557.337.428|C15.604.515.560|C20.683.515.528 Leukemia, Lymphocytic, T Cell|Leukemia, Lymphocytic, T-Cell|Leukemias, T-Cell|Leukemias, T-Cell Lymphocytic|Leukemias, T Lymphocytic|Leukemias, T-Lymphocytic|Leukemia, T Cell|Leukemia, T-Cell Lymphocytic|Leukemia, T Lymphocytic|Leukemia, T-Lymphocytic|Lymphocytic Leukemias, T|Lymphocytic Leukemias, T-Cell|Lymphocytic Leukemia, T|Lymphocytic Leukemia, T Cell|Lymphocytic Leukemia, T-Cell|T Cell Leukemia|T-Cell Leukemia|T-Cell Leukemias|T-Cell Lymphocytic Leukemia|T-Cell Lymphocytic Leukemias|T Lymphocytic Leukemia|T-Lymphocytic Leukemia|T Lymphocytic Leukemias|T-Lymphocytic Leukemias Cancer|Immune system disease|Lymphatic disease Leukemic Infiltration MESH:D017254 A pathologic change in leukemia in which leukemic cells permeate various organs at any stage of the disease. All types of leukemia show various degrees of infiltration, depending upon the type of leukemia. The degree of infiltration may vary from site to site. The liver and spleen are common sites of infiltration, the greatest appearing in myelocytic leukemia, but infiltration is seen also in the granulocytic and lymphocytic types. The kidney is also a common site and of the gastrointestinal system, the stomach and ileum are commonly involved. In lymphocytic leukemia the skin is often infiltrated. The central nervous system too is a common site. MESH:D009361 C04.697.645.500|C23.550.727.645.500 C04.697.645|C23.550.727.645 Infiltration, Leukemic|Infiltrations, Leukemic|Leukemic Infiltrations Cancer|Pathology (process) Leukemoid Reaction MESH:D007955 A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed) MESH:D007964|MESH:D009196 C15.378.190.636.484|C15.378.553.475.428 C15.378.190.636|C15.378.553.475 Leukemoid Reactions|Reaction, Leukemoid|Reactions, Leukemoid Blood disease Leukoaraiosis MESH:D049292 Non-specific white matter changes in the BRAIN, often seen after age 65. Changes include loss of AXONS; MYELIN pallor, GLIOSIS, loss of ependymal cells, and enlarged perivascular spaces. Leukoaraiosis is a risk factor for DEMENTIA and CEREBROVASCULAR DISORDERS. MESH:D010335 C23.550.522 C23.550 Leukoaraioses Pathology (process) Leukocyte-Adhesion Deficiency Syndrome MESH:D018370 DO:DOID:6612 Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. MESH:D000081207 C16.320.798.719|C20.673.795.719 C16.320.798|C20.673.795 Deficiency Syndrome, Leukocyte Adhesion|Deficiency Syndrome, Leukocyte-Adhesion|Leukocyte Adhesion Deficiency Syndrome|Leukocyte-Adhesion Deficiency Syndromes Genetic disease (inborn)|Immune system disease Leukocyte adhesion deficiency type 1 MESH:C535887 OMIM:116920 MESH:D018370 C16.320.798.719/C535887|C20.673.795.719/C535887 C16.320.798.719|C20.673.795.719 LAD|LAD1|LEUKOCYTE ADHESION DEFICIENCY|Leukocyte Adhesion Deficiency, Type I|Lfa1 Immunodeficiency|Lymphocyte function-associated antigen 1 immunodeficiency Genetic disease (inborn)|Immune system disease Leukocyte Adhesion Deficiency, Type III MESH:C567555 OMIM:612840 MESH:D018370 C16.320.798.719/C567555|C20.673.795.719/C567555 C16.320.798.719|C20.673.795.719 IADD|Integrin Activation Deficiency Disease|LAD1V|LAD3|Leukocyte Adhesion Deficiency 1 Variant|Leukocyte Adhesion Deficiency 3 Genetic disease (inborn)|Immune system disease Leukocyte Disorders MESH:D007960 DO:DOID:9500 Disordered formation of various types of leukocytes or an abnormal accumulation or deficiency of these cells. MESH:D006402 C15.378.553 C15.378 Disorder, Leukocyte|Disorders, Leukocyte|Leukocyte Disorder Blood disease Leukocyte Nuclear Appendages, Hereditary Prevalence of MESH:C563626 MESH:D007960 C15.378.553/C563626 C15.378.553 Blood disease Leukocytosis MESH:D007964 A transient increase in the number of leukocytes in a body fluid. MESH:D007960|MESH:D010335 C15.378.553.475|C23.550.526 C15.378.553|C23.550 Leukocytoses|Pleocytoses|Pleocytosis Blood disease|Pathology (process) LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA OMIM:616763 MESH:D004421|MESH:D008831|MESH:D056784 C05.660.207.620/616763|C10.228.140.695/616763|C10.500.507.400.500/616763|C10.597.350.300/616763|C16.131.621.207.620/616763|C16.131.666.507.400.500/616763|C23.888.592.350.300/616763 C05.660.207.620|C10.228.140.695|C10.500.507.400.500|C10.597.350.300|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.350.300 LDAMD Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant MESH:C566813 MESH:D020371 C10.228.140.163.100.362.775/C566813|C10.228.140.695.625.775/C566813|C10.314.400.775/C566813|C16.320.322.906/C566813|C16.320.565.189.362.775/C566813|C18.452.132.100.362.775/C566813|C18.452.648.189.362.775/C566813 C10.228.140.163.100.362.775|C10.228.140.695.625.775|C10.314.400.775|C16.320.322.906|C16.320.565.189.362.775|C18.452.132.100.362.775|C18.452.648.189.362.775 Multiple Sclerosis-Like Disorder|Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type Genetic disease (inborn)|Metabolic disease|Nervous system disease Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia MESH:C567311 MESH:D015419 C10.500.300.820/C567311|C10.574.500.495.820/C567311|C10.668.829.800.300.820/C567311|C16.131.666.300.820/C567311|C16.320.400.375.820/C567311 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Leukodystrophy, Dysmyelinating, with Oligodontia MESH:C564344 MESH:D000848|MESH:D020279 C07.650.800.100/C564344|C07.793.700.100/C564344|C10.228.140.163.100.362/C564344|C10.228.140.695.625/C564344|C10.314.400/C564344|C10.574.500.490/C564344|C16.131.850.800.100/C564344|C16.320.400.367/C564344|C16.320.565.189.362/C564344|C18.452.132.100.362/C564344|C18.452.648.189.362/C564344 C07.650.800.100|C07.793.700.100|C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.131.850.800.100|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 Dentoleukoencephalopathy Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Mouth disease|Nervous system disease Leukodystrophy, Globoid Cell MESH:D007965 DO:DOID:10587|OMIM:245200 An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses. MESH:D013106|MESH:D020279 C10.228.140.163.100.362.500|C10.228.140.163.100.435.825.590|C10.228.140.695.625.500|C10.314.400.500|C16.320.565.189.362.500|C16.320.565.189.435.825.590|C16.320.565.398.641.803.585|C16.320.565.595.554.825.590|C18.452.132.100.362.500|C18.452.132.100.435.825.590|C18.452.584.563.641.803.585|C18.452.648.189.362.500|C18.452.648.189.435.825.590|C18.452.648.398.641.803.585|C18.452.648.595.554.825.590 C10.228.140.163.100.362|C10.228.140.163.100.435.825|C10.228.140.695.625|C10.314.400|C16.320.565.189.362|C16.320.565.189.435.825|C16.320.565.398.641.803|C16.320.565.595.554.825|C18.452.132.100.362|C18.452.132.100.435.825|C18.452.584.563.641.803|C18.452.648.189.362|C18.452.648.189.435.825|C18.452.648.398.641.803|C18.452.648.595.554.825 beta-Galactosidase Deficiencies, Galactosylceramide|beta-Galactosidase Deficiency, Galactosylceramide|Cell Leukodystrophies, Globoid|Cell Leukodystrophy, Globoid|Cell Leukoencephalopathies, Globoid|Cell Leukoencephalopathy, Globoid|Classic Globoid Cell Leukodystrophy|Deficiencies, Galactocerebrosidase|Deficiencies, Galactosylceramide beta-Galactosidase|Deficiencies, GALC|Deficiency Disease, Galactosylceramidase|Deficiency Disease, Galactosylceramide-beta-Galactosidase|Deficiency Diseases, Galactosylceramidase|Deficiency Diseases, Galactosylceramide-beta-Galactosidase|Deficiency, Galactocerebrosidase|Deficiency, Galactosylceramide beta-Galactosidase|Deficiency, GALC|Diffuse Globoid Body Sclerosis|Disease, Galactosylceramidase Deficiency|Disease, Galactosylceramide-beta-Galactosidase Deficiency|Diseases, Galactosylceramidase Deficiency|Diseases, Galactosylceramide-beta-Galactosidase Deficiency|Early Onset Globoid Cell Leukodystrophy|Early-Onset Globoid Cell Leukodystrophy|Galactocerebrosidase Deficiencies|Galactocerebrosidase Deficiency|Galactosylceramidase Deficiency Disease|Galactosylceramidase Deficiency Diseases|Galactosylceramide beta-Galactosidase Deficiencies|Galactosylceramide beta Galactosidase Deficiency|Galactosylceramide beta-Galactosidase Deficiency|Galactosylceramide beta Galactosidase Deficiency Disease|Galactosylceramide-beta-Galactosidase Deficiency Disease|Galactosylceramide-beta-Galactosidase Deficiency Diseases|Galactosylceramide Lipidosis|Galactosylcerebrosidase Deficiency|Galactosylsphingosine Lipidosis|GALC Deficiencies|GALC Deficiency|GCL|GLD|Globoid Body Sclerosis, Diffuse|Globoid Cell Leukodystrophies|Globoid Cell Leukodystrophy|Globoid Cell Leukoencephalopathies|Globoid Cell Leukoencephalopathy|Globoid Leukodystrophies|Globoid Leukodystrophy|Infantile Globoid Cell Leukodystrophy|Krabbe Disease|Krabbe Leukodystrophy|Krabbe's Disease|Krabbes Disease|Krabbe's Leukodystrophy|Krabbes Leukodystrophy|KRB|Late Onset Globoid Cell Leukodystrophy|Late-Onset Globoid Cell Leukodystrophy|Leukodystrophies, Globoid|Leukodystrophies, Globoid Cell|Leukodystrophy, Globoid|Leukodystrophy, Globoid Cell, Classic|Leukodystrophy, Globoid Cell, Early-Onset|Leukodystrophy, Globoid Cell, Infantile|Leukodystrophy, Globoid Cell, Late-Onset|Leukodystrophy, Krabbe|Leukodystrophy, Krabbe's|Leukoencephalopathies, Globoid Cell|Leukoencephalopathy, Globoid Cell|Psychosine Lipidosis Genetic disease (inborn)|Metabolic disease|Nervous system disease LEUKODYSTROPHY, HYPOMYELINATING, 10 OMIM:616420 DO:DOID:0060788 MESH:D020279 C10.228.140.163.100.362/616420|C10.228.140.695.625/616420|C10.314.400/616420|C10.574.500.490/616420|C16.320.400.367/616420|C16.320.565.189.362/616420|C18.452.132.100.362/616420|C18.452.648.189.362/616420 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 HLD10 Genetic disease (inborn)|Metabolic disease|Nervous system disease LEUKODYSTROPHY, HYPOMYELINATING, 11 OMIM:616494 DO:DOID:0060792 MESH:D020279 C10.228.140.163.100.362/616494|C10.228.140.695.625/616494|C10.314.400/616494|C10.574.500.490/616494|C16.320.400.367/616494|C16.320.565.189.362/616494|C18.452.132.100.362/616494|C18.452.648.189.362/616494 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 4H LEUKODYSTROPHY 3|HLD11 Genetic disease (inborn)|Metabolic disease|Nervous system disease LEUKODYSTROPHY, HYPOMYELINATING, 12 OMIM:616683 DO:DOID:0060796 MESH:D020279 C10.228.140.163.100.362/616683|C10.228.140.695.625/616683|C10.314.400/616683|C10.574.500.490/616683|C16.320.400.367/616683|C16.320.565.189.362/616683|C18.452.132.100.362/616683|C18.452.648.189.362/616683 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 HLD12 Genetic disease (inborn)|Metabolic disease|Nervous system disease LEUKODYSTROPHY, HYPOMYELINATING, 13 OMIM:616881 DO:DOID:0060795 MESH:D020279 C10.228.140.163.100.362/616881|C10.228.140.695.625/616881|C10.314.400/616881|C10.574.500.490/616881|C16.320.400.367/616881|C16.320.565.189.362/616881|C18.452.132.100.362/616881|C18.452.648.189.362/616881 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 HLD13 Genetic disease (inborn)|Metabolic disease|Nervous system disease Leukodystrophy, Hypomyelinating, 2 MESH:C563855 OMIM:608804 MESH:D020279 C10.228.140.163.100.362/C563855|C10.228.140.695.625/C563855|C10.314.400/C563855|C10.574.500.490/C563855|C16.320.400.367/C563855|C16.320.565.189.362/C563855|C18.452.132.100.362/C563855|C18.452.648.189.362/C563855 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 HLD2|Pelizaeus-Merzbacher-Like Disease, 1|PMLD1 Genetic disease (inborn)|Metabolic disease|Nervous system disease LEUKODYSTROPHY, HYPOMYELINATING, 3 OMIM:260600 DO:DOID:0060790 MESH:D020279 C10.228.140.163.100.362/260600|C10.228.140.695.625/260600|C10.314.400/260600|C10.574.500.490/260600|C16.320.400.367/260600|C16.320.565.189.362/260600|C18.452.132.100.362/260600|C18.452.648.189.362/260600 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 HLD3 Genetic disease (inborn)|Metabolic disease|Nervous system disease Leukodystrophy, Hypomyelinating, 4 MESH:C567390 OMIM:612233 MESH:D020279|MESH:D028361 C10.228.140.163.100.362/C567390|C10.228.140.695.625/C567390|C10.314.400/C567390|C10.574.500.490/C567390|C16.320.400.367/C567390|C16.320.565.189.362/C567390|C18.452.132.100.362/C567390|C18.452.648.189.362/C567390|C18.452.660/C567390 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362|C18.452.660 HLD4|MITCHAP60 DISEASE|Mitochondrial Hsp60 Chaperonopathy Genetic disease (inborn)|Metabolic disease|Nervous system disease Leukodystrophy, Hypomyelinating, 5 MESH:C567166 OMIM:610532 MESH:D002386|MESH:D020279 C10.228.140.163.100.362/C567166|C10.228.140.695.625/C567166|C10.314.400/C567166|C10.574.500.490/C567166|C11.510.245/C567166|C16.320.400.367/C567166|C16.320.565.189.362/C567166|C18.452.132.100.362/C567166|C18.452.648.189.362/C567166 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C11.510.245|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 HLD5|Hypomyelination And Congenital Cataract|HYPOMYELINATION AND CONGENITAL CATARACT: HCC Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Leukodystrophy, Hypomyelinating, 6 MESH:C567314 MESH:D020279 C10.228.140.163.100.362/C567314|C10.228.140.695.625/C567314|C10.314.400/C567314|C10.574.500.490/C567314|C16.320.400.367/C567314|C16.320.565.189.362/C567314|C18.452.132.100.362/C567314|C18.452.648.189.362/C567314 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum Genetic disease (inborn)|Metabolic disease|Nervous system disease LEUKODYSTROPHY, HYPOMYELINATING, 9 OMIM:616140 DO:DOID:0060791 MESH:D020279 C10.228.140.163.100.362/616140|C10.228.140.695.625/616140|C10.314.400/616140|C10.574.500.490/616140|C16.320.400.367/616140|C16.320.565.189.362/616140|C18.452.132.100.362/616140|C18.452.648.189.362/616140 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 HLD9 Genetic disease (inborn)|Metabolic disease|Nervous system disease Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism MESH:C567313 OMIM:607694|OMIM:614381 MESH:D000848|MESH:D001259|MESH:D007006|MESH:D056784 C07.650.800.100/C567313|C07.793.700.100/C567313|C10.228.140.695/C567313|C10.597.350.090/C567313|C16.131.850.800.100/C567313|C19.391.482/C567313|C23.888.592.350.090/C567313 C07.650.800.100|C07.793.700.100|C10.228.140.695|C10.597.350.090|C16.131.850.800.100|C19.391.482|C23.888.592.350.090 4H LEUKODYSTROPHY 1|4H LEUKODYSTROPHY 2|4H SYNDROME|ADDH|Ataxia, Delayed Dentition, and Hypomyelination|CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS|HLD7|HLD8|Leukodystrophy, Hypomyelinating, 7|LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM|LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM|LEUKODYSTROPHY, HYPOMYELINATING, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM|Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition Congenital abnormality|Endocrine system disease|Mouth disease|Nervous system disease|Signs and symptoms Leukodystrophy, Metachromatic MESH:D007966 DO:DOID:10581|OMIM:250100 An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms. MESH:D020279|MESH:D052516 C10.228.140.163.100.362.550|C10.228.140.163.100.435.825.850.500|C10.228.140.695.625.550|C10.314.400.550|C16.320.565.189.362.550|C16.320.565.189.435.825.850.500|C16.320.565.398.641.803.925.500|C16.320.565.595.554.825.850.500|C18.452.132.100.362.550|C18.452.132.100.435.825.850.500|C18.452.584.563.641.803.925.500|C18.452.648.189.362.550|C18.452.648.189.435.825.850.500|C18.452.648.398.641.803.925.500|C18.452.648.595.554.825.850.500 C10.228.140.163.100.362|C10.228.140.163.100.435.825.850|C10.228.140.695.625|C10.314.400|C16.320.565.189.362|C16.320.565.189.435.825.850|C16.320.565.398.641.803.925|C16.320.565.595.554.825.850|C18.452.132.100.362|C18.452.132.100.435.825.850|C18.452.584.563.641.803.925|C18.452.648.189.362|C18.452.648.189.435.825.850|C18.452.648.398.641.803.925|C18.452.648.595.554.825.850 Adult Metachromatic Leukodystrophies|Adult Metachromatic Leukodystrophy|Adult-Type Metachromatic Leukodystrophies|Adult-Type Metachromatic Leukodystrophy|ARSA Deficiencies|ARSA Deficiency|Arylsulfatase A Deficiencies|Arylsulfatase A Deficiency|Arylsulfatase A Deficiency Disease|Cerebral sclerosis, Diffuse, Metachromatic Form|Cerebroside Sulfatase Deficiencies|Cerebroside Sulfatase Deficiency|CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED|Cerebroside Sulphatase Deficiency Disease|Deficiencies, ARSA|Deficiencies, Arylsulfatase A|Deficiencies, Cerebroside Sulfatase|Deficiency, ARSA|Deficiency, Arylsulfatase A|Deficiency, Cerebroside Sulfatase|Greenfield Disease|Greenfield's Disease|Infant Metachromatic Leukodystrophies|Infant Metachromatic Leukodystrophy|Infant-Type Metachromatic Leukodystrophies|Infant-Type Metachromatic Leukodystrophy|Juvenile Metachromatic Leukodystrophies|Juvenile Metachromatic Leukodystrophy|Juvenile-Type Metachromatic Leukodystrophies|Juvenile-Type Metachromatic Leukodystrophy|Leukodystrophies, Adult Metachromatic|Leukodystrophies, Adult-Type Metachromatic|Leukodystrophies, Juvenile Metachromatic|Leukodystrophies, Juvenile-Type Metachromatic|Leukodystrophies, Metachromatic|Leukodystrophy, Adult Metachromatic|Leukodystrophy, Adult-Type Metachromatic|Leukodystrophy, Juvenile Metachromatic|Leukodystrophy, Juvenile-Type Metachromatic|Leukodystrophy, Metachromatic, Adult|Leukodystrophy, Metachromatic, Juvenile|Leukoencephalopathies, Metachromatic|Leukoencephalopathy, Metachromatic|Lipidosis, Sulfatide|Metachromatic Leukodystrophies|Metachromatic Leukodystrophies, Adult|Metachromatic Leukodystrophies, Adult-Type|Metachromatic Leukodystrophies, Infant|Metachromatic Leukodystrophies, Infant-Type|Metachromatic Leukodystrophies, Juvenile|Metachromatic Leukodystrophies, Juvenile-Type|Metachromatic Leukodystrophy|Metachromatic Leukodystrophy, Adult|METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED|Metachromatic Leukodystrophy, Adult Type|Metachromatic Leukodystrophy, Adult-Type|Metachromatic Leukodystrophy, Infant|Metachromatic Leukodystrophy, Infant Type|Metachromatic Leukodystrophy, Infant-Type|Metachromatic Leukodystrophy, Juvenile|METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED|Metachromatic Leukodystrophy, Juvenile Type|Metachromatic Leukodystrophy, Juvenile-Type|Metachromatic Leukodystrophy, Late Infantile|METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE, INCLUDED|Metachromatic Leukoencephalopathies|Metachromatic Leukoencephalopathy|MLD|Sulfatase Deficiencies, Cerebroside|Sulfatase Deficiency, Cerebroside|Sulfatide Lipidosis Genetic disease (inborn)|Metabolic disease|Nervous system disease Leukoedema, Oral MESH:D007967 DO:DOID:4557 A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed) MESH:D009059 C07.465.385 C07.465 Leukoedemas, Oral|Oral Leukoedema|Oral Leukoedemas Mouth disease Leukoencephalitis, Acute Hemorrhagic MESH:D004684 DO:DOID:10992|DO:DOID:5222 A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, SEIZURES, and COMA. It may follow a viral illness or MYCOPLASMA PNEUMONIAE infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5) MESH:D004673 C10.114.375.225.500|C10.228.140.695.562.225.500|C10.314.350.225.500|C20.111.258.250.350.500 C10.114.375.225|C10.228.140.695.562.225|C10.314.350.225|C20.111.258.250.350 Acute Hemorrhagic Encephalomyelitides|Acute Hemorrhagic Encephalomyelitis|Acute Hemorrhagic Leukoencephalitides|Acute Hemorrhagic Leukoencephalitis|Acute Necrotizing Encephalitides|Acute Necrotizing Encephalitis|Disease, Hurst|Disease, Hurst's|Encephalitides, Acute Necrotizing|Encephalitis, Acute Necrotizing|Encephalomyelitides, Acute Hemorrhagic|Encephalomyelitides, Hemorrhagic Necrotizing|Encephalomyelitis, Acute Hemorrhagic|Encephalomyelitis, Acute Necrotizing Hemorrhagic|Encephalomyelitis, Hemorrhagic Necrotizing|Encephalomyelitis, Necrotizing Hemorrhagic|Hemorrhagic Encephalomyelitides, Acute|Hemorrhagic Encephalomyelitides, Necrotizing|Hemorrhagic Encephalomyelitis, Acute|Hemorrhagic Encephalomyelitis, Necrotizing|Hemorrhagic Leukoencephalitides, Acute|Hemorrhagic Leukoencephalitides, Subacute|Hemorrhagic Leukoencephalitis, Acute|Hemorrhagic Leukoencephalitis, Subacute|Hemorrhagic Necrotizing Encephalomyelitis|Hurst Disease|Hurst's Disease|Hursts Disease|Hurst Syndrome|Leukoencephalitides, Acute Hemorrhagic|Leukoencephalitides, Subacute Hemorrhagic|Leukoencephalitis Acuta Hemorrhagica|Leukoencephalitis, Subacute Hemorrhagic|Necrotizing Encephalitides, Acute|Necrotizing Encephalitis, Acute|Necrotizing Encephalomyelitides, Hemorrhagic|Necrotizing Encephalomyelitis, Hemorrhagic|Necrotizing Hemorrhagic Encephalomyelitides|Necrotizing Hemorrhagic Encephalomyelitis|Subacute Hemorrhagic Leukoencephalitides|Subacute Hemorrhagic Leukoencephalitis|Syndrome, Hurst Immune system disease|Nervous system disease Leukoencephalopathies MESH:D056784 Any of various diseases affecting the white matter of the central nervous system. MESH:D001927 C10.228.140.695 C10.228.140 CACH Syndrome|CACH Syndromes|CACH VWM Syndrome|CACH VWM Syndromes|Centralis Diffusa, Myelinosis|Childhood Ataxia with Central Nervous System Hypomyelination|Childhood Ataxia with Central Nervous System Hypomyelinization|Childhood Ataxia with Diffuse Central Nervous System Hypomyelination|Cree Leukoencephalopathies|Cree Leukoencephalopathy|Diffusa, Myelinosis Centralis|Diffusas, Myelinosis Centralis|Leukoencephalopathy|Leukoencephalopathy, Cree|Leukoencephalopathy with Vanishing White Matter|Myelinosis Centralis Diffusa|Myelinosis Centralis Diffusas|Syndrome, CACH VWM|Vanishing White Matter Disease|Vanishing White Matter Leukodystrophy|VWM Syndrome, CACH|White Matter Disease|White Matter Diseases Nervous system disease Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema MESH:C563852 MESH:D000361|MESH:D001168|MESH:D003092|MESH:D056784 C05.550.114/C563852|C06.405.205.265/C563852|C06.405.469.158.188/C563852|C10.228.140.695/C563852|C15.378.147.142/C563852|C15.604.515.032/C563852|C20.673.088/C563852 C05.550.114|C06.405.205.265|C06.405.469.158.188|C10.228.140.695|C15.378.147.142|C15.604.515.032|C20.673.088 Blood disease|Digestive system disease|Immune system disease|Lymphatic disease|Musculoskeletal disease|Nervous system disease Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia MESH:C535888 MESH:D000015|MESH:D000361|MESH:D001168|MESH:D003092|MESH:D056784 C05.550.114/C535888|C06.405.205.265/C535888|C06.405.469.158.188/C535888|C10.228.140.695/C535888|C15.378.147.142/C535888|C15.604.515.032/C535888|C16.131.077/C535888|C20.673.088/C535888 C05.550.114|C06.405.205.265|C06.405.469.158.188|C10.228.140.695|C15.378.147.142|C15.604.515.032|C16.131.077|C20.673.088 Blood disease|Congenital abnormality|Digestive system disease|Immune system disease|Lymphatic disease|Musculoskeletal disease|Nervous system disease Leukoencephalopathy Brain Calcifications and Cysts MESH:C000598644 OMIM:614561 MESH:D002114|MESH:D020863|MESH:D056784 C04.588.614.250.387/C000598644|C10.228.140.695/C000598644|C10.500.142/C000598644|C10.551.240.375/C000598644|C16.131.666.142/C000598644|C18.452.174.130/C000598644 C04.588.614.250.387|C10.228.140.695|C10.500.142|C10.551.240.375|C16.131.666.142|C18.452.174.130 Labrune Syndrome|LCC|LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS Cancer|Congenital abnormality|Metabolic disease|Nervous system disease Leukoencephalopathy, Cystic, Without Megalencephaly MESH:C567845 OMIM:612951 MESH:D003560|MESH:D056784 C04.182/C567845|C10.228.140.695/C567845|C23.300.306/C567845 C04.182|C10.228.140.695|C23.300.306 Cancer|Nervous system disease|Pathology (anatomical condition) Leukoencephalopathy, Progressive Multifocal MESH:D007968 DO:DOID:643 An opportunistic viral infection of the central nervous system associated with conditions that impair cell-mediated immunity (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME and other IMMUNOLOGIC DEFICIENCY SYNDROMES; HEMATOLOGIC NEOPLASMS; IMMUNOSUPPRESSION; and COLLAGEN DISEASES). The causative organism is JC Polyomavirus (JC VIRUS) which primarily affects oligodendrocytes, resulting in multiple areas of demyelination. Clinical manifestations include DEMENTIA; ATAXIA; visual disturbances; and other focal neurologic deficits, generally progressing to a vegetative state within 6 months. (From Joynt, Clinical Neurology, 1996, Ch26, pp36-7) MESH:D003711|MESH:D012897|MESH:D018792|MESH:D027601|MESH:D056784 C01.207.245.340.500|C01.207.399.750.500|C01.925.182.525.500|C01.925.256.721.500|C01.925.839.550|C10.228.140.430.520.750.500|C10.228.140.695.750|C10.228.228.245.340.500|C10.228.228.399.750.500|C10.314.450|C10.586.250.520.750.500 C01.207.245.340|C01.207.399.750|C01.925.182.525|C01.925.256.721|C01.925.839|C10.228.140.430.520.750|C10.228.140.695|C10.228.228.245.340|C10.228.228.399.750|C10.314|C10.586.250.520.750 Encephalitis, JC Polyomavirus|Encephalopathies, JC Polyomavirus|Encephalopathy, JC Polyomavirus|JC Polyomavirus Encephalitis|JC Polyomavirus Encephalopathy|Leukoencephalopathies, Progressive Multifocal|Multifocal Leukoencephalopathies, Progressive|Multifocal Leukoencephalopathy, Progressive|Progressive Multifocal Leukoencephalopathies|Progressive Multifocal Leukoencephalopathy Nervous system disease|Viral disease LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE OMIM:615889 DO:DOID:0070396 MESH:D010049|MESH:D056784 C10.228.140.695/615889|C12.050.351.500.056.630/615889|C12.100.250.056.630/615889|C19.391.630/615889 C10.228.140.695|C12.050.351.500.056.630|C12.100.250.056.630|C19.391.630 LKENP Endocrine system disease|Nervous system disease|Urogenital disease (female) LEUKOENCEPHALOPATHY WITH ATAXIA OMIM:615651 MESH:D001259|MESH:D056784 C10.228.140.695/615651|C10.597.350.090/615651|C23.888.592.350.090/615651 C10.228.140.695|C10.597.350.090|C23.888.592.350.090 LKPAT Nervous system disease|Signs and symptoms Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation MESH:C567009 OMIM:611105 MESH:D028361|MESH:D056784 C10.228.140.695/C567009|C18.452.660/C567009 C10.228.140.695|C18.452.660 LBSL|Mitochondrial Aspartyl-tRNA Synthetase Deficiency Metabolic disease|Nervous system disease LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY OMIM:613724 MESH:D004421|MESH:D011115|MESH:D056784 C10.228.140.695/613724|C10.597.350.300/613724|C10.668.829.800/613724|C23.888.592.350.300/613724 C10.228.140.695|C10.597.350.300|C10.668.829.800|C23.888.592.350.300 LKDMN|STEROL CARRIER PROTEIN 2 DEFICIENCY Nervous system disease|Signs and symptoms Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient MESH:C566654 MESH:D004421|MESH:D011115|MESH:D056784 C10.228.140.695/C566654|C10.597.350.300/C566654|C10.668.829.800/C566654|C23.888.592.350.300/C566654 C10.228.140.695|C10.597.350.300|C10.668.829.800|C23.888.592.350.300 Nervous system disease|Signs and symptoms Leukokeratosis, Hereditary Mucosal MESH:D053529 DO:DOID:0050448|OMIM:193900|OMIM:615785 An autosomal dominant disorder that is manifested by thickened spongiform ORAL MUCOSA with a white opalescent tint. Other MUCOSAL TISSUE may also be involved mucosa found in the VAGINA; RECTUM, and NASAL CAVITY may be similarly involved. This form of LEUKOKERATOSIS can be caused by a mutation in the gene for KERATIN 4 and is not considered a PRENEOPLASTIC CONDITION. MESH:D012873 C16.320.850.542|C17.800.827.595 C16.320.850|C17.800.827 Hereditary Mucosal Leukokeratoses|Hereditary Mucosal Leukokeratosis|Leukokeratoses, Hereditary Mucosal|LEUKOKERATOSIS, HEREDITARY MUCOSAL|Mucosal Leukokeratoses, Hereditary|Mucosal Leukokeratosis, Hereditary|WHITE SPONGE NEVUS 1|WHITE SPONGE NEVUS 2|White Sponge Nevus of Cannon|WSN1|WSN2 Genetic disease (inborn)|Skin disease Leukomalacia, Periventricular MESH:D007969 DO:DOID:13088 Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1) MESH:D002561|MESH:D004678|MESH:D007235 C10.228.140.300.700|C10.228.140.461.550|C14.907.253.612|C16.614.521.450 C10.228.140.300|C10.228.140.461|C14.907.253|C16.614.521 Cerebral Leukomalacia, Neonatal|Cerebral Leukomalacias, Neonatal|Cystic Periventricular Leukomalacia|Cystic Periventricular Leukomalacias|Encephalomalacia, Periventricular|Encephalomalacias, Periventricular|Leucomalacia, Periventricular|Leucomalacias, Periventricular|Leukomalacia, Cystic Periventricular|Leukomalacia, Neonatal Cerebral|Leukomalacias, Cystic Periventricular|Leukomalacias, Neonatal Cerebral|Leukomalacias, Periventricular|Neonatal Cerebral Leukomalacia|Neonatal Cerebral Leukomalacias|Periventricular Encephalomalacia|Periventricular Encephalomalacias|Periventricular Leucomalacia|Periventricular Leucomalacias|Periventricular Leukomalacia|Periventricular Leukomalacia, Cystic|Periventricular Leukomalacias|Periventricular Leukomalacias, Cystic Cardiovascular disease|Infant-newborn disease|Nervous system disease Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis MESH:C565440 MESH:D000848|MESH:D006130|MESH:D007039|MESH:D008607|MESH:D010859|MESH:D012873 C07.650.800.100/C565440|C07.793.700.100/C565440|C10.597.606.360/C565440|C16.131.850.800.100/C565440|C16.320.850/C565440|C17.800.329.937/C565440|C17.800.621/C565440|C17.800.827/C565440|C23.550.393/C565440|C23.550.755/C565440|C23.888.592.604.646/C565440|F03.625.539/C565440 C07.650.800.100|C07.793.700.100|C10.597.606.360|C16.131.850.800.100|C16.320.850|C17.800.329.937|C17.800.621|C17.800.827|C23.550.393|C23.550.755|C23.888.592.604.646|F03.625.539 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Mouth disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Leukonychia totalis MESH:C535889 MESH:D009260|MESH:D017496 C17.800.529/C535889|C17.800.621.440/C535889 C17.800.529|C17.800.621.440 Hereditary white nails|Porcelain nails Skin disease Leukopenia MESH:D007970 DO:DOID:615 A decrease in the number of LEUKOCYTES in a blood sample below the normal range (LEUKOCYTE COUNT less than 4000). MESH:D007960 C15.378.553.546 C15.378.553 Leukocytopenia|Leukocytopenias|Leukopenias Blood disease Leukoplakia MESH:D007971 A white patch lesion found on a MUCOUS MEMBRANE that cannot be scraped off. Leukoplakia is generally considered a precancerous condition, however its appearance may also result from a variety of HEREDITARY DISEASES. MESH:D011230|MESH:D020763 C04.834.512|C23.300.816 C04.834|C23.300 Lesion, Leukoplakic|Lesions, Leukoplakic|Leukokeratoses|Leukokeratosis|Leukoplakias|Leukoplakic Lesion|Leukoplakic Lesions Cancer|Pathology (anatomical condition) Leukoplakia, Hairy MESH:D017733 DO:DOID:0060315 Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy. MESH:D007972|MESH:D020031 C01.925.256.466.313.500|C04.588.443.591.545.500|C04.834.512.513.500|C07.465.530.545.500|C23.300.816.513.500 C01.925.256.466.313|C04.588.443.591.545|C04.834.512.513|C07.465.530.545|C23.300.816.513 Hairy Leukoplakia|Hairy Leukoplakia, Oral|Hairy Leukoplakias|Hairy Leukoplakias, Oral|Leukoplakia, Hairy, Oral|Leukoplakia, Oral Hairy|Leukoplakias, Hairy|Leukoplakias, Oral Hairy|Oral Hairy Leukoplakia|Oral Hairy Leukoplakias Cancer|Mouth disease|Pathology (anatomical condition)|Viral disease Leukoplakia, Oral MESH:D007972 A white patch seen on the oral mucosa. It is considered a premalignant condition and is often tobacco-induced. When evidence of Epstein-Barr virus is present, the condition is called hairy leukoplakia (LEUKOPLAKIA, HAIRY). MESH:D007971|MESH:D009062 C04.588.443.591.545|C04.834.512.513|C07.465.530.545|C23.300.816.513 C04.588.443.591|C04.834.512|C07.465.530|C23.300.816 Keratoses, Oral|Keratosis, Oral|Leukokeratoses, Oral|Leukokeratosis, Oral|Leukoplakias, Oral|Oral Keratoses|Oral Keratosis|Oral Leukokeratoses|Oral Leukokeratosis|Oral Leukoplakia|Oral Leukoplakias Cancer|Mouth disease|Pathology (anatomical condition) Leukorrhea MESH:D007973 DO:DOID:3766 A clear or white discharge from the VAGINA, consisting mainly of MUCUS. MESH:D019522 C12.050.351.500.894.700.500|C12.100.250.894.700.500 C12.050.351.500.894.700|C12.100.250.894.700 Leukorrheas Urogenital disease (female) Leukostasis MESH:D018921 DO:DOID:12986 Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs. MESH:D007960 C15.378.553.560 C15.378.553 Leukostases|Leukostasis Syndrome|Leukostasis Syndromes|Syndrome, Leukostasis|Syndromes, Leukostasis Blood disease Leukotriene C4 Synthase Deficiency MESH:C565439 OMIM:614037 MESH:D008661 C16.320.565/C565439|C18.452.648/C565439 C16.320.565|C18.452.648 LTC4 Synthase Deficiency Genetic disease (inborn)|Metabolic disease Levator-Medial Rectus Synkinesis MESH:C563625 MESH:D015835|MESH:D046608 C10.228.758/C563625|C10.292.562/C563625|C10.597.350.675/C563625|C11.590/C563625|C23.888.592.350.675/C563625 C10.228.758|C10.292.562|C10.597.350.675|C11.590|C23.888.592.350.675 Oculomotor-Levator Synkinesis Eye disease|Nervous system disease|Signs and symptoms Levator syndrome MESH:C535890 MESH:D001004|MESH:D010146 C06.405.469.860.101/C535890|C23.888.592.612/C535890 C06.405.469.860.101|C23.888.592.612 Levator ani spasm syndrome|Levator ani syndrome Digestive system disease|Signs and symptoms Levocardia MESH:D007979 Congenital abnormalities in which the HEART is in the normal position (levocardia) in the left side of the chest but some or all of the THORAX or ABDOMEN viscera are transposed laterally (SITUS INVERSUS). It is also known as situs inversus with levocardia, or isolated levocardia. This condition is often associated with severe heart defects and splenic abnormalities such as asplenia or polysplenia. MESH:D006330|MESH:D012857 C14.240.400.701|C14.280.400.701|C16.131.240.400.701|C16.131.810.700 C14.240.400|C14.280.400|C16.131.240.400|C16.131.810 Isolated Levocardia|Levocardia, Isolated|Situs Inversus with Levocardia Cardiovascular disease|Congenital abnormality Lewy Body Disease MESH:D020961 DO:DOID:12217|OMIM:127750 A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124) MESH:D000080874|MESH:D003704|MESH:D020734 C10.228.140.079.862.400|C10.228.140.380.422|C10.228.662.600.200|C10.574.928.500|F03.615.400.512 C10.228.140.079.862|C10.228.140.380|C10.228.662.600|C10.574.928|F03.615.400 Cortical Lewy Body Disease|Dementia, Lewy Body|Diffuse Lewy Body Disease|DIFFUSE LEWY BODY DISEASE DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY, INCLUDED|DLB|Lewy Body Dementia|Lewy Body Disease, Cortical|Lewy Body Disease, Diffuse|Lewy Body Type Senile Dementia|LEWY BODY VARIANT OF ALZHEIMER DISEASE, INCLUDED Mental disorder|Nervous system disease Lewy Body Variant of Alzheimer Disease MESH:C565078 MESH:D000544 C10.228.140.380.100/C565078|C10.574.945.249/C565078|F03.615.400.100/C565078 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 Mental disorder|Nervous system disease Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty MESH:C567168 MESH:D000236|MESH:D007984|MESH:D011629 C04.557.470.035/C567168|C04.557.475.750.847.249/C567168|C04.588.322.762.500.249/C567168|C04.588.945.440.915.500.249/C567168|C12.100.500.260.937.500.249/C567168|C12.200.294.260.937.500.249/C567168|C12.200.758.409.937.500.249/C567168|C12.900.619.937.500.249/C567168|C19.344.762.500.249/C567168|C19.391.693/C567168|C19.391.829.782.500.249/C567168 C04.557.470.035|C04.557.475.750.847.249|C04.588.322.762.500.249|C04.588.945.440.915.500.249|C12.100.500.260.937.500.249|C12.200.294.260.937.500.249|C12.200.758.409.937.500.249|C12.900.619.937.500.249|C19.344.762.500.249|C19.391.693|C19.391.829.782.500.249 Cancer|Endocrine system disease|Urogenital disease (male) Leydig Cell Hypoplasia MESH:C562567 DO:DOID:0112259|OMIM:238320 MESH:D058490 C12.050.351.875.253.096/C562567|C12.200.706.316.096/C562567|C12.800.316.096/C562567|C16.131.939.316.096/C562567|C19.391.119.096/C562567 C12.050.351.875.253.096|C12.200.706.316.096|C12.800.316.096|C16.131.939.316.096|C19.391.119.096 46,XY Disorder of Sex Development Due To LH Defects|Hypergonadotropic Hypogonadism, Male, Due To LHCGR Defect|Leydig Cell Agenesis|LEYDIG CELL AGENESIS LEYDIG CELL HYPOPLASIA, TYPE II, INCLUDED|Leydig Cell Hypoplasia, Complete|Leydig Cell Hypoplasia, Partial|LEYDIG CELL HYPOPLASIA, PARTIAL, INCLUDED|Leydig Cell Hypoplasia, Type I|Leydig Cell Hypoplasia, Type II|Leydig Cell Hypoplasia with Male Pseudohermaphroditism|LH Resistance Due To LH Receptor Deactivation|Luteinizing Hormone Resistance, Female|LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED|Male Hypergonadotropic Hypogonadism Due To LHCGR Defect Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Leydig Cell Tumor MESH:D007984 DO:DOID:2696 Gonadal interstitial or stromal cell neoplasm composed of only LEYDIG CELLS. These tumors may produce one or more of the steroid hormones such as ANDROGENS; ESTROGENS; and CORTICOSTEROIDS. Clinical symptoms include testicular swelling, GYNECOMASTIA, sexual precocity in children, or virilization (VIRILISM) in females. MESH:D018310 C04.557.475.750.847.249|C04.588.322.762.500.249|C04.588.945.440.915.500.249|C12.100.500.260.937.500.249|C12.200.294.260.937.500.249|C12.200.758.409.937.500.249|C12.900.619.937.500.249|C19.344.762.500.249|C19.391.829.782.500.249 C04.557.475.750.847|C04.588.322.762.500|C04.588.945.440.915.500|C12.100.500.260.937.500|C12.200.294.260.937.500|C12.200.758.409.937.500|C12.900.619.937.500|C19.344.762.500|C19.391.829.782.500 Interstitial Cell Tumor|Interstitial Cell Tumors|Tumor, Interstitial Cell|Tumor, Leydig Cell|Tumors, Interstitial Cell Cancer|Endocrine system disease|Urogenital disease (male) L-FERRITIN DEFICIENCY OMIM:615604 MESH:C562694|MESH:D012148|MESH:D019189 C10.228.140.490.375/C562694/615604|C10.803/615604|C10.886.425.800.700/615604|C10.886.659.634/615604|C18.452.565/615604|F03.870.400.800.700/615604|F03.870.664.634/615604 C10.228.140.490.375/C562694|C10.803|C10.886.425.800.700|C10.886.659.634|C18.452.565|F03.870.400.800.700|F03.870.664.634 LFTD Mental disorder|Metabolic disease|Nervous system disease L-Gulonolactone Oxidase, Nonfunctional MESH:C565486 MESH:D008661 C16.320.565/C565486|C18.452.648/C565486 C16.320.565|C18.452.648 Gulo, Nonfunctional Genetic disease (inborn)|Metabolic disease Lice Infestations MESH:D010373 DO:DOID:5502 Parasitic attack or subsistence on the skin by members of the order Phthiraptera, especially on humans by Pediculus humanus of the family Pediculidae. The hair of the head, eyelashes, and pubis is a frequent site of infestation. (From Dorland, 28th ed; Stedman, 26th ed) MESH:D004478|MESH:D012876 C01.610.858.211.465|C17.800.838.775.580 C01.610.858.211|C17.800.838.775 Infestation, Lice|Infestations, Lice|Lice Infestation|Pediculoses|Pediculosis Parasitic disease|Skin disease Lichen Nitidus MESH:D017513 DO:DOID:8573 A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses. MESH:D017512 C17.800.859.475.545 C17.800.859.475 Skin disease Lichenoid Eruptions MESH:D017512 Conditions in which there is histological damage to the lower epidermis along with a grouped chronic inflammatory infiltrate in the papillary dermis disturbing the interface between the epidermis and dermis. LICHEN PLANUS is the prototype of all lichenoid eruptions. (From Rook et al., Textbook of Dermatology, 4th ed, p398) MESH:D017444 C17.800.859.475 C17.800.859 Eruption, Licheniform|Eruption, Lichenoid|Eruptions, Licheniform|Eruptions, Lichenoid|Licheniform Eruption|Licheniform Eruptions|Lichenoid Eruption Skin disease Lichen Planus MESH:D008010 DO:DOID:9201 An inflammatory, pruritic disease of the skin and mucous membranes, which can be either generalized or localized. It is characterized by distinctive purplish, flat-topped papules having a predilection for the trunk and flexor surfaces. The lesions may be discrete or coalesce to form plaques. Histologically, there is a 'saw-tooth' pattern of epidermal hyperplasia and vacuolar alteration of the basal layer of the epidermis along with an intense upper dermal inflammatory infiltrate composed predominantly of T-cells. Etiology is unknown. MESH:D017512 C17.800.859.475.560 C17.800.859.475 Cutaneous Lichen Planus|Lichen Planopilaris|Lichen Planus, Cutaneous|Lichen Planus, Mucosal|Lichen Ruber Planus|Lichen Rubra Planus|Mucosal Lichen Planus|Planopilaris, Lichen Skin disease Lichen Planus, Familial MESH:C563624 MESH:D008010 C17.800.859.475.560/C563624 C17.800.859.475.560 Skin disease Lichen planus follicularis MESH:C535892 MESH:D008010 C17.800.859.475.560/C535892 C17.800.859.475.560 Follicular lichen planus tumidus|Lichen planus follicularis tumidus|Lichen planus tumidus follicularis Skin disease Lichen Planus, Oral MESH:D017676 Oral lesions accompanying cutaneous lichen planus or often occurring alone. The buccal mucosa, lips, gingivae, floor of the mouth, and palate are usually affected (in a descending order of frequency). Typically, oral lesions consist of radiating white or gray, velvety, threadlike lines, arranged in a reticular pattern, at the intersection of which there may be minute, white, elevated dots or streaks (Wickham's striae). (Jablonski, Illustrated Dictionary of Dentistry) MESH:D008010|MESH:D009059 C07.465.397|C17.800.859.475.560.397 C07.465|C17.800.859.475.560 Oral Lichen Planus Mouth disease|Skin disease Lichen Sclerosus et Atrophicus MESH:D018459 A chronic inflammatory mucocutaneous disease usually affecting the female genitalia (VULVAR LICHEN SCLEROSUS) and BALANITIS XEROTICA OBLITERANS in males. It is also called white spot disease and Csillag's disease. MESH:D017512 C17.800.859.475.605 C17.800.859.475 Lichen Scleroses|Lichen Sclerosis|Lichen Sclerosis et Atrophicus|Lichen Sclerosus|Scleroses, Lichen|Sclerosis, Lichen|Sclerosus, Lichen Skin disease LICHTENSTEIN-KNORR SYNDROME OMIM:616291 DO:DOID:0080065 MESH:D006319|MESH:D013132 C09.218.458.341.887/616291|C10.228.140.252.700/616291|C10.228.854.787/616291|C10.574.500.825/616291|C10.597.751.418.341.887/616291|C16.320.400.780/616291|C23.888.592.763.393.341.887/616291 C09.218.458.341.887|C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C10.597.751.418.341.887|C16.320.400.780|C23.888.592.763.393.341.887 LIKNS|SCAR19|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 19 Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Lichtenstein syndrome MESH:C535894 MESH:D005357|MESH:D007153|MESH:D009503|MESH:D019066 C05.116.099.708.375/C535894|C15.378.553.546.184.564/C535894|C20.673/C535894|C23.550.291.812/C535894 C05.116.099.708.375|C15.378.553.546.184.564|C20.673|C23.550.291.812 Blood disease|Immune system disease|Musculoskeletal disease|Pathology (process) Liddle Syndrome MESH:D056929 DO:DOID:0050477|OMIM:177200 Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNELS beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNELS subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT. MESH:D015499 C12.050.351.968.419.815.683|C12.200.777.419.815.683|C12.950.419.815.683|C16.320.831.698 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.831 LIDDLE SYNDROME|LIDDLE SYNDROME 1|LIDLS|LIDLS1|Pseudoaldosteronism|PSEUDOHYPERALDOSTERONISM|Syndrome, Liddle Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Li-Fraumeni-Like Syndrome MESH:C567189 MESH:D016864 C04.700.600/C567189|C16.320.700.600/C567189|C18.452.284.520/C567189 C04.700.600|C16.320.700.600|C18.452.284.520 Cancer|Genetic disease (inborn)|Metabolic disease Li-Fraumeni Syndrome MESH:D016864 DO:DOID:3012|OMIM:151623 Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA. MESH:D009386|MESH:D049914 C04.700.600|C16.320.700.600|C18.452.284.520 C04.700|C16.320.700|C18.452.284 LFL, INCLUDED|LFS|Li Fraumeni Syndrome|SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI|SBLA SYNDROME LI-FRAUMENI-LIKE SYNDROME, INCLUDED Cancer|Genetic disease (inborn)|Metabolic disease Li-Fraumeni Syndrome 2 MESH:C563755 DO:DOID:0111504|OMIM:609265 MESH:D016864 C04.700.600/C563755|C16.320.700.600/C563755|C18.452.284.520/C563755 C04.700.600|C16.320.700.600|C18.452.284.520 CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED|LFS2, FORMERLY|LI-FRAUMENI SYNDROME 2, FORMERLY|TPDS4|TUMOR PREDISPOSITION SYNDROME 4 Cancer|Genetic disease (inborn)|Metabolic disease Li-Fraumeni Syndrome 3 MESH:C563754 MESH:D016864 C04.700.600/C563754|C16.320.700.600/C563754|C18.452.284.520/C563754 C04.700.600|C16.320.700.600|C18.452.284.520 Cancer|Genetic disease (inborn)|Metabolic disease LIG4 Syndrome MESH:C564694 OMIM:606593 MESH:D006130|MESH:D007153|MESH:D019465 C05.660.207/C564694|C16.131.621.207/C564694|C20.673/C564694|C23.550.393/C564694 C05.660.207|C16.131.621.207|C20.673|C23.550.393 Congenital abnormality|Immune system disease|Musculoskeletal disease|Pathology (process) Light Fixation Seizure Syndrome MESH:C566367 MESH:D000015|MESH:D008607|MESH:D012174 C10.597.606.360/C566367|C11.270.684/C566367|C11.768.585.658.500/C566367|C16.131.077/C566367|C16.320.290.684/C566367|C23.888.592.604.646/C566367|F03.625.539/C566367 C10.597.606.360|C11.270.684|C11.768.585.658.500|C16.131.077|C16.320.290.684|C23.888.592.604.646|F03.625.539 M Syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Lightning Injuries MESH:D015168 Accidental injuries caused by brief high-voltage electrical discharges during thunderstorms. Cardiopulmonary arrest, coma and other neurologic symptoms, myocardial necrosis, and dermal burns are common. Prompt treatment of the acute sequelae, including cardiopulmonary resuscitation, is indicated for survival. MESH:D004556 C26.324.550 C26.324 Injuries, Lightning|Injury, Lightning|Lightning Injury|Lightning Stroke|Lightning Strokes|Stroke, Lightning|Strokes, Lightning Wounds and injuries Limbal Stem Cell Deficiency MESH:D000092423 Loss or disturbance of limbal STEM CELL function in the CORNEAL LIMBUS resulting in inability to self-renew CORNEAL EPITHELIUM and conjunctivalized corneal surface. MESH:D003316 C11.204.720 C11.204 Eye disease Limb Defects, Distal Transverse, with Mental Retardation and Spasticity MESH:C565438 MESH:D008607|MESH:D015419|MESH:D017880 C05.660.585/C565438|C10.500.300.820/C565438|C10.574.500.495.820/C565438|C10.597.606.360/C565438|C10.668.829.800.300.820/C565438|C16.131.621.585/C565438|C16.131.666.300.820/C565438|C16.320.400.375.820/C565438|C23.888.592.604.646/C565438|F03.625.539/C565438 C05.660.585|C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.668.829.800.300.820|C16.131.621.585|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.604.646|F03.625.539 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Limb Deficiencies, Distal, with Micrognathia MESH:C565437 MESH:D008844|MESH:D017880 C05.500.460.457/C565437|C05.660.207.540.460.457/C565437|C05.660.585/C565437|C07.320.440.457/C565437|C07.650.500.460.457/C565437|C16.131.621.207.540.460.457/C565437|C16.131.621.585/C565437|C16.131.850.500.460.457/C565437 C05.500.460.457|C05.660.207.540.460.457|C05.660.585|C07.320.440.457|C07.650.500.460.457|C16.131.621.207.540.460.457|C16.131.621.585|C16.131.850.500.460.457 Split-Hand Foot Malformation 3 Congenital abnormality|Mouth disease|Musculoskeletal disease Limb Deformities, Congenital MESH:D017880 Congenital structural deformities of the upper and lower extremities collectively or unspecified. MESH:D009139 C05.660.585|C16.131.621.585 C05.660|C16.131.621 Congenital Limb Deformities|Congenital Limb Deformity|Deformities, Congenital Limb|Deformity, Congenital Limb|Limb Deformity, Congenital Congenital abnormality|Musculoskeletal disease Limb-girdle muscular dystrophy autosomal recessive MESH:C538640 MESH:D049288 C05.651.534.500.280/C538640|C10.668.491.175.500.149/C538640|C16.320.577.280/C538640 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Limb-girdle muscular dystrophy, type 1B MESH:C535898 MESH:D049288 C05.651.534.500.280/C535898|C10.668.491.175.500.149/C535898|C16.320.577.280/C535898 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD1B|Muscular Dystrophy, Limb-Girdle, Type 1B|Muscular dystrophy, proximal, type 1B Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Limb-Girdle Muscular Dystrophy, Type 1G MESH:C563794 OMIM:609115 MESH:D049288 C05.651.534.500.280/C563794|C10.668.491.175.500.149/C563794|C16.320.577.280/C563794 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD1G|LGMDD3|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Limb-girdle muscular dystrophy type 2A MESH:C535895 OMIM:253600 MESH:D049288 C05.651.534.500.280/C535895|C10.668.491.175.500.149/C535895|C16.320.577.280/C535895 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 Calpainopathy|CALPAINOPATHY MYOSITIS, EOSINOPHILIC, INCLUDED|Leyden-Moebius muscular dystrophy|LGMD2|LGMD2A|LGMDR1|Limb-girdle muscular dystrophy type 2|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1|Muscular Dystrophy, Limb-Girdle, Type 2|Muscular Dystrophy, Limb-Girdle, Type 2A|Muscular dystrophy, pelvofemoral|Myositis, Eosinophilic Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Limb-girdle muscular dystrophy, type 2B MESH:C535899 OMIM:253601 MESH:D049288 C05.651.534.500.280/C535899|C10.668.491.175.500.149/C535899|C16.320.577.280/C535899 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2B|LGMD3|LGMDR2|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2|Muscular Dystrophy, Limb-Girdle, Type 2B|Muscular dystrophy, limb-girdle, type 3 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Limb-girdle muscular dystrophy, type 2C MESH:C535900 OMIM:253700 MESH:D058088 C05.651.534.500.280.500/C535900|C08.618.923/C535900|C10.668.491.175.500.149.500/C535900|C14.280.238.812/C535900|C16.320.577.280.500/C535900 C05.651.534.500.280.500|C08.618.923|C10.668.491.175.500.149.500|C14.280.238.812|C16.320.577.280.500 Adhalin deficiency, secondary|DMDA|DMDA1|Duchenne-like muscular dystrophy, autosomal recessive, type 1|Gamma-sarcoglycanopathy|LGMD2C|LGMDR5|Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency|Maghrebian myopathy|Muscular dystrophy, Duchenne-like|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5|Muscular Dystrophy, Limb-Girdle, Type 2C|SARCOGLYCAN, GAMMA, DEFICIENCY OF|SCARMD|Severe childhood autosomal recessive muscular dystrophy, North African type Cardiovascular disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Respiratory tract disease Limb-girdle muscular dystrophy, type 2E MESH:C535902 OMIM:604286 MESH:D058088 C05.651.534.500.280.500/C535902|C08.618.923/C535902|C10.668.491.175.500.149.500/C535902|C14.280.238.812/C535902|C16.320.577.280.500/C535902 C05.651.534.500.280.500|C08.618.923|C10.668.491.175.500.149.500|C14.280.238.812|C16.320.577.280.500 Beta-sarcoglycan limb-girdle muscular dystrophy|LGMD2E|LGMDR4|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4|Muscular Dystrophy, Limb-Girdle, Type 2E|Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency Cardiovascular disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Respiratory tract disease Limb-girdle muscular dystrophy type 2F MESH:C535896 OMIM:601287 MESH:D058088 C05.651.534.500.280.500/C535896|C08.618.923/C535896|C10.668.491.175.500.149.500/C535896|C14.280.238.812/C535896|C16.320.577.280.500/C535896 C05.651.534.500.280.500|C08.618.923|C10.668.491.175.500.149.500|C14.280.238.812|C16.320.577.280.500 LGMD2F|LGMDR6|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6|Muscular Dystrophy, Limb-Girdle, Type 2F|Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency Cardiovascular disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Respiratory tract disease Limb-girdle muscular dystrophy type 2H MESH:C535897 OMIM:254110 MESH:D049288 C05.651.534.500.280/C535897|C10.668.491.175.500.149/C535897|C16.320.577.280/C535897 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2H|LGMDR8|Muscular dystrophy Hutterite type|Muscular Dystrophy, Hutterite Type|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8|Muscular dystrophy, limb-girdle type 2H|Muscular Dystrophy, Limb-Girdle, Type 2H|Sarcotubular myopathy Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Limbic Encephalitis MESH:D020363 DO:DOID:0080741 A paraneoplastic syndrome marked by degeneration of neurons in the LIMBIC SYSTEM. Clinical features include HALLUCINATIONS, loss of EPISODIC MEMORY; ANOSMIA; AGEUSIA; TEMPORAL LOBE EPILEPSY; DEMENTIA; and affective disturbance (depression). Circulating anti-neuronal antibodies (e.g., anti-Hu; anti-Yo; anti-Ri; and anti-Ma2) and small cell lung carcinomas or testicular carcinoma are frequently associated with this syndrome. MESH:D004660|MESH:D020361|MESH:D020805 C01.207.245.700|C04.588.614.550.450|C04.730.856.437|C10.228.140.430.525|C10.228.228.245.700|C10.574.781.550|C10.586.250.525 C01.207.245|C04.588.614.550|C04.730.856|C10.228.140.430|C10.228.228.245|C10.574.781|C10.586.250 Encephalitides, Paraneoplastic Limbic|Encephalitis, Limbic|Encephalitis, Paraneoplastic Limbic|Limbic Encephalitis, Paraneoplastic|Paraneoplastic Limbic Encephalitis Cancer|Nervous system disease limbic-predominant age-related TDP-43 encephalopathy MESH:C000723354 MESH:D003704|MESH:D057177 C10.228.140.380/C000723354|C10.574.950/C000723354|C18.452.845.800/C000723354|F03.615.400/C000723354 C10.228.140.380|C10.574.950|C18.452.845.800|F03.615.400 LATE limbic-predominant age-related TDP-43 encephalopathy|LATE-NC|LATE neuropathological change|limbic-predominant age-related TDP-43 encephalopathy neuropathological changes Mental disorder|Metabolic disease|Nervous system disease Limb-mammary syndrome MESH:C535903 OMIM:603543 MESH:D017880 C05.660.585/C535903|C16.131.621.585/C535903 C05.660.585|C16.131.621.585 LMS|Mammary hypoplasia, ectrodactyly, and other hand-foot anomalies Congenital abnormality|Musculoskeletal disease Linear IgA Bullous Dermatosis MESH:D062027 Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of IMMUNOGLOBULIN A and occasionally IMMUNOGLOBULIN G classes against epidermal BASEMENT MEMBRANE proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., VANCOMYCIN). MESH:D001327|MESH:D012872 C17.800.865.622|C20.111.585 C17.800.865|C20.111 Chronic Bullous Disease of Childhood|Dermatoses, Linear IgA|Dermatosis, Linear IgA|Drug induced Linear IgA Bullous Dermatosis|Drug-induced Linear IgA Bullous Dermatosis|Drug induced Linear IgA Dermatosis|Drug-induced Linear IgA Dermatosis|IgA Dermatoses, Linear|IgA Dermatosis, Linear|Linear IgA Dermatoses|Linear IgA Dermatosis|Linear IgA IgG Bullous Dermatosis|Linear IgA IgG Dermatosis Immune system disease|Skin disease LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 OMIM:300887 DO:DOID:0111877 MESH:D004476|MESH:D008831|MESH:D019465 C05.660.207/300887|C05.660.207.620/300887|C10.500.507.400.500/300887|C16.131.077.350/300887|C16.131.621.207/300887|C16.131.621.207.620/300887|C16.131.666.507.400.500/300887|C16.131.831.350/300887|C16.320.850.250/300887|C17.800.804.350/300887|C17.800.827.250/300887 C05.660.207|C05.660.207.620|C10.500.507.400.500|C16.131.077.350|C16.131.621.207|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIAL DYSMORPHISM, AND OTHER CONGENITAL ANOMALIES|APLCC|LSDMCA2 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Skin disease LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 OMIM:300952 DO:DOID:0111876 MESH:D000015|MESH:D009202|MESH:D012868 C14.280.238/300952|C16.131.077/300952|C16.131.831/300952|C17.800.804/300952 C14.280.238|C16.131.077|C16.131.831|C17.800.804 LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES|LSDMCA3 Cardiovascular disease|Congenital abnormality|Skin disease Lingual Goiter MESH:D047268 DO:DOID:13196 Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms. MESH:D006042|MESH:D046151 C16.131.894.500.500|C19.874.283.802|C19.874.689.500.500 C16.131.894.500|C19.874.283|C19.874.689.500 Goiter, Lingual|Goiters, Lingual|Lingual Goiters Congenital abnormality|Endocrine system disease Lingual Nerve Injuries MESH:D061222 Traumatic injuries to the LINGUAL NERVE. It may be a complication following dental treatments. MESH:D061221 C07.465.299.625.500.349.500|C10.292.200.875.500|C10.292.319.625.700.349.500|C10.900.300.218.775.500|C26.915.300.400.825.500 C07.465.299.625.500.349|C10.292.200.875|C10.292.319.625.700.349|C10.900.300.218.775|C26.915.300.400.825 Contusion, Lingual Nerve|Contusions, Lingual Nerve|Injuries, Lingual Nerve|Injury, Lingual Nerve|Lingual Nerve Contusion|Lingual Nerve Contusions|Lingual Nerve Injury|Lingual Nerve Transection|Lingual Nerve Transections|Lingual Neuropathy, Traumatic|Nerve Contusion, Lingual|Nerve Contusions, Lingual|Nerve Injuries, Lingual|Nerve Injury, Lingual|Nerve Transection, Lingual|Nerve Transections, Lingual|Transection, Lingual Nerve|Transections, Lingual Nerve Mouth disease|Nervous system disease|Wounds and injuries Lingual Thyroid MESH:D046151 A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM. MESH:D050033 C16.131.894.500|C19.874.689.500 C16.131.894|C19.874.689 Lingual Thyroids|Thyroid, Lingual|Thyroids, Lingual Congenital abnormality|Endocrine system disease Linitis Plastica MESH:D008039 DO:DOID:4023 A condition where the stomach wall becomes thickened, rubbery and loses its ability to distend. The stomach assumes a 'leather bottle' shape. It is most often seen in adenocarcinoma of the stomach. The term is often used synonymously with diffuse adenocarcinoma of the stomach. MESH:D002293 C04.557.470.200.025.095.410 C04.557.470.200.025.095 Cancer Lipase deficiency combined MESH:C535904 OMIM:246650 MESH:D008052 C16.320.565.398/C535904|C18.452.584.563/C535904|C18.452.648.398/C535904 C16.320.565.398|C18.452.584.563|C18.452.648.398 Lipase Deficiency, Combined|Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency|Lpl And Hl Deficiency|Lpl And Htgl Deficiency Genetic disease (inborn)|Metabolic disease Lip Diseases MESH:D008047 DO:DOID:9297 Diseases involving the LIP. MESH:D009059 C07.465.409 C07.465 Disease, Lip|Diseases, Lip|Lip Disease Mouth disease Lipedema MESH:D065134 Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of SUBCUTANEOUS FAT often in obese women. It is associated with HEMATOMA, pain and may progress to secondary LYMPHEDEMA which is known as lipolymphedema. MESH:D003240 C17.300.451 C17.300 Lipedemas|Lipoedema|Lipoedemas|Lipolymphedema|Lipolymphedemas Connective tissue disease Lip, Hamartomatous MESH:C563621 MESH:D006222|MESH:D008047 C04.445/C563621|C07.465.409/C563621 C04.445|C07.465.409 Enlargement of Lower Lip Cancer|Mouth disease Lipid Metabolism Disorders MESH:D052439 Pathological conditions resulting from abnormal anabolism or catabolism of lipids in the body. MESH:D008659 C18.452.584 C18.452 Lipid Metabolism Disorder|Metabolism Disorder, Lipid|Metabolism Disorders, Lipid Metabolic disease Lipid Metabolism, Inborn Errors MESH:D008052 DO:DOID:3146 Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. MESH:D008661|MESH:D052439 C16.320.565.398|C18.452.584.563|C18.452.648.398 C16.320.565|C18.452.584|C18.452.648 Lipid Metabolism, Inborn Error Genetic disease (inborn)|Metabolic disease Lipidoses MESH:D008064 DO:DOID:9455 Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved. MESH:D008052 C16.320.565.398.641|C18.452.584.563.641|C18.452.648.398.641 C16.320.565.398|C18.452.584.563|C18.452.648.398 Lipidosis|Lipoidosis Genetic disease (inborn)|Metabolic disease Lip Neoplasms MESH:D008048 DO:DOID:8564 Tumors or cancer of the LIP. MESH:D008047|MESH:D009062 C04.588.443.591.550|C07.465.409.640|C07.465.530.550 C04.588.443.591|C07.465.409|C07.465.530 Cancer, Lip|Cancer of Lip|Cancer of the Lip|Cancers, Lip|Lip Cancer|Lip Cancers|Lip Neoplasm|Neoplasm, Lip|Neoplasms, Lip Cancer|Mouth disease Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules MESH:C535905 MESH:D002312|MESH:D003920|MESH:D005234|MESH:D008060 C06.552.241/C535905|C14.280.238.100/C535905|C14.280.484.048.750.070.160/C535905|C17.800.849.391/C535905|C18.452.394.750/C535905|C18.452.584.625/C535905|C18.452.880.391/C535905|C19.246/C535905 C06.552.241|C14.280.238.100|C14.280.484.048.750.070.160|C17.800.849.391|C18.452.394.750|C18.452.584.625|C18.452.880.391|C19.246 Cardiovascular disease|Digestive system disease|Endocrine system disease|Metabolic disease|Skin disease Lipoblastoma MESH:D062689 Benign tumors of fatty tissues found in infancy and childhood. It is associated chromosomal aberrations that result in activation of an oncogene on chromosome band 8q12. MESH:D008067 C04.557.450.550.400.500 C04.557.450.550.400 Lipoblastomas|Lipoblastomatoses|Lipoblastomatosis Cancer Lipodermatosclerosis MESH:C537026 MESH:D003872|MESH:D012594 C17.300.787/C537026|C17.800.174/C537026|C17.800.767/C537026 C17.300.787|C17.800.174|C17.800.767 Acute lipodermatosclerosis Connective tissue disease|Skin disease Lipodystrophy MESH:D008060 DO:DOID:811 A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy. MESH:D012875|MESH:D052439 C17.800.849.391|C18.452.584.625|C18.452.880.391 C17.800.849|C18.452.584|C18.452.880 Lipodystrophies Metabolic disease|Skin disease Lipodystrophy, Congenital Generalized MESH:D052497 OMIM:269700|OMIM:608594 Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA. MESH:D008052|MESH:D008060 C16.320.565.398.745|C17.800.849.391.550|C18.452.584.563.745|C18.452.584.625.550|C18.452.648.398.745|C18.452.880.391.550 C16.320.565.398|C17.800.849.391|C18.452.584.563|C18.452.584.625|C18.452.648.398|C18.452.880.391 AGPAT2-Related Brunzell Syndrome|Berardinelli Seip Congenital Lipodystrophy|Berardinelli-Seip Congenital Lipodystrophy|Berardinelli Seip Congenital Lipodystrophy Type 1|Berardinelli Seip Congenital Lipodystrophy, Type 1|Berardinelli-Seip Congenital Lipodystrophy Type 1|Berardinelli-Seip Congenital Lipodystrophy, Type 1|Berardinelli Seip Congenital Lipodystrophy Type 2|Berardinelli Seip Congenital Lipodystrophy, Type 2|Berardinelli-Seip Congenital Lipodystrophy Type 2|Berardinelli-Seip Congenital Lipodystrophy, Type 2|Berardinelli Seip Syndrome|Berardinelli-Seip Syndrome|Berardinelli Syndrome|Brunzell Syndrome|Brunzell Syndrome, AGPAT2 Related|Brunzell Syndrome, AGPAT2-Related|Brunzell Syndrome, BSCL2 Related|Brunzell Syndrome, BSCL2-Related|Brunzell Syndrome (with Bone Cysts)|BSCL1|BSCL2-Related Brunzell Syndrome|CGL1|CGL2|Congenital Generalized Lipodystrophies|Congenital Generalized Lipodystrophy|Congenital Generalized Lipodystrophy Type 1|Congenital Generalized Lipodystrophy Type 2|Congenital Lipoatrophic Diabete|Congenital Lipoatrophic Diabetes|Congenital Lipodystrophy, Berardinelli-Seip|Diabete, Congenital Lipoatrophic|Diabetes, Congenital Lipoatrophic|Generalized Lipodystrophies|Generalized Lipodystrophies, Congenital|Generalized Lipodystrophy|Generalized Lipodystrophy, Congenital|Lipoatrophic Diabete, Congenital|Lipoatrophic Diabetes, Congenital|Lipodystrophies, Congenital Generalized|Lipodystrophies, Generalized|Lipodystrophies, Total|Lipodystrophy, Berardinelli-Seip Congenital|Lipodystrophy, Berardinelli-Seip Congenital, Type 1|Lipodystrophy, Berardinelli-Seip Congenital, Type 2|Lipodystrophy, Congenital Generalized, Type 1|Lipodystrophy, Congenital Generalized, Type 2|Lipodystrophy, Generalized|Lipodystrophy, Total|Lipodystrophy, Total, And Acromegaloid Gigantism|Seip Syndrome|Syndrome, AGPAT2-Related Brunzell|Syndrome, Berardinelli|Syndrome, Berardinelli-Seip|Syndrome, Brunzell|Syndrome, Brunzell (with Bone Cysts)|Syndrome, BSCL2-Related Brunzell|Syndrome, Seip|Total Lipodystrophies|Total Lipodystrophy|Total Lipodystrophy and Acromegaloid Gigantism Genetic disease (inborn)|Metabolic disease|Skin disease Lipodystrophy, Congenital Generalized, Type 3 MESH:C567282 OMIM:612526 MESH:D052497 C16.320.565.398.745/C567282|C17.800.849.391.550/C567282|C18.452.584.563.745/C567282|C18.452.584.625.550/C567282|C18.452.648.398.745/C567282|C18.452.880.391.550/C567282 C16.320.565.398.745|C17.800.849.391.550|C18.452.584.563.745|C18.452.584.625.550|C18.452.648.398.745|C18.452.880.391.550 Berardinelli-Seip Congenital Lipodystrophy, Type 3|Bscl3|Cgl3|Lipodystrophy, Berardinelli-Seip Congenital, Type 3 Genetic disease (inborn)|Metabolic disease|Skin disease Lipodystrophy, Congenital Generalized, Type 4 MESH:C567642 OMIM:613327 MESH:D052497 C16.320.565.398.745/C567642|C17.800.849.391.550/C567642|C18.452.584.563.745/C567642|C18.452.584.625.550/C567642|C18.452.648.398.745/C567642|C18.452.880.391.550/C567642 C16.320.565.398.745|C17.800.849.391.550|C18.452.584.563.745|C18.452.584.625.550|C18.452.648.398.745|C18.452.880.391.550 Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy|CGL4|Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy Genetic disease (inborn)|Metabolic disease|Skin disease Lipodystrophy, Familial Partial MESH:D052496 DO:DOID:0050440|DO:DOID:0070202|DO:DOID:0070204|DO:DOID:0070207|OMIM:151660|OMIM:604367|OMIM:613877|OMIM:615238|OMIM:615980 Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA. MESH:D000083083|MESH:D008052|MESH:D008060 C16.320.488.813|C17.800.849.391.700|C18.452.584.563.798|C18.452.584.625.700|C18.452.880.391.700 C16.320.488|C17.800.849.391|C18.452.584.563|C18.452.584.625|C18.452.880.391 Dunnigan Syndrome|Familial Partial Lipodystrophies|Familial Partial Lipodystrophy|Familial Partial Lipodystrophy, Kobberling Type|Familial Partial Lipodystrophy, Type 1|Familial Partial Lipodystrophy, Type 2|Familial Partial Lipodystrophy, Type 3|FPL2|FPLD2|FPLD3|FPLD4|FPLD5|FPLD6|Koberling Dunnigan Syndrome|Koberling-Dunnigan Syndrome|LIPOATROPHIC DIABETES|Lipodystrophy, Familial, of Limbs and Lower Trunk|LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS|LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS|LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS|Lipodystrophy, Familial Partial, Associated With PPARg Mutations|Lipodystrophy, Familial Partial, Dunnigan Type|Lipodystrophy, Familial Partial, Kobberling Type|Lipodystrophy, Familial Partial, Type 1|Lipodystrophy, Familial Partial, Type 2|Lipodystrophy, Familial Partial, Type 3|LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4|LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5|LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6|Lipodystrophy, Reverse Partial|Partial Lipodystrophies, Reverse|Partial Lipodystrophy, Familial|Partial Lipodystrophy, Reverse|Reverse Partial Lipodystrophies|Reverse Partial Lipodystrophy Genetic disease (inborn)|Metabolic disease|Skin disease LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 OMIM:606721 MESH:D002386|MESH:D013118|MESH:D019636|MESH:D052496 C10.228.854/606721|C10.574/606721|C11.510.245/606721|C16.320.488.813/606721|C17.800.849.391.700/606721|C18.452.584.563.798/606721|C18.452.584.625.700/606721|C18.452.880.391.700/606721 C10.228.854|C10.574|C11.510.245|C16.320.488.813|C17.800.849.391.700|C18.452.584.563.798|C18.452.584.625.700|C18.452.880.391.700 FPLD7|LCCNS|PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, WITH OR WITHOUT NEURODEGENERATION SYNDROME Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Skin disease Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones MESH:C564283 MESH:D006130|MESH:D006319|MESH:D008607|MESH:D052497 C09.218.458.341.887/C564283|C10.597.606.360/C564283|C10.597.751.418.341.887/C564283|C16.320.565.398.745/C564283|C17.800.849.391.550/C564283|C18.452.584.563.745/C564283|C18.452.584.625.550/C564283|C18.452.648.398.745/C564283|C18.452.880.391.550/C564283|C23.550.393/C564283|C23.888.592.604.646/C564283|C23.888.592.763.393.341.887/C564283|F03.625.539/C564283 C09.218.458.341.887|C10.597.606.360|C10.597.751.418.341.887|C16.320.565.398.745|C17.800.849.391.550|C18.452.584.563.745|C18.452.584.625.550|C18.452.648.398.745|C18.452.880.391.550|C23.550.393|C23.888.592.604.646|C23.888.592.763.393.341.887|F03.625.539 Ear-nose-throat disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Lipodystrophy, Partial, Acquired MESH:C562448 OMIM:608709 MESH:D008060 C17.800.849.391/C562448|C18.452.584.625/C562448|C18.452.880.391/C562448 C17.800.849.391|C18.452.584.625|C18.452.880.391 APLD|APLD, SUSCEPTIBILITY TO|Barraquer-Simons Syndrome|Lipodystrophy, Cephalothoracic Type|LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO|Lipodystrophy, Partial, Progressive Metabolic disease|Skin disease Lipodystrophy with Congenital Cataracts and Neurodegeneration MESH:C564669 MESH:D002386|MESH:D020271|MESH:D052496 C10.574.500/C564669|C11.510.245/C564669|C16.320.400/C564669|C16.320.488.813/C564669|C17.800.849.391.700/C564669|C18.452.584.563.798/C564669|C18.452.584.625.700/C564669|C18.452.880.391.700/C564669 C10.574.500|C11.510.245|C16.320.400|C16.320.488.813|C17.800.849.391.700|C18.452.584.563.798|C18.452.584.625.700|C18.452.880.391.700 Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Skin disease Lipoid congenital adrenal hyperplasia MESH:C537027 OMIM:201710 MESH:D000312|MESH:D058490 C12.050.351.875.253.090.500/C537027|C12.050.351.875.253.096/C537027|C12.200.706.316.090.500/C537027|C12.200.706.316.096/C537027|C12.800.316.090.500/C537027|C12.800.316.096/C537027|C16.131.939.316.096/C537027|C16.131.939.316.129.500/C537027|C16.320.033/C537027|C16.320.565.925.249/C537027|C18.452.648.925.249/C537027|C19.053.440/C537027|C19.391.119.090.500/C537027|C19.391.119.096/C537027 C12.050.351.875.253.090.500|C12.050.351.875.253.096|C12.200.706.316.090.500|C12.200.706.316.096|C12.800.316.090.500|C12.800.316.096|C16.131.939.316.096|C16.131.939.316.129.500|C16.320.033|C16.320.565.925.249|C18.452.648.925.249|C19.053.440|C19.391.119.090.500|C19.391.119.096 Adrenal hyperplasia 1|Adrenal Hyperplasia I|LCAH|Lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Lipoid Proteinosis of Urbach and Wiethe MESH:D008065 DO:DOID:14498|OMIM:247100 An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN. MESH:D006685|MESH:D012873 C08.618.490.500|C16.320.850.595 C08.618.490|C16.320.850 Hyalinosis Cutis et Mucosae|Lipoidproteinosis|LIPOID PROTEINOSIS|Lipoid Proteinosis, Urbach-Wiethe|Lipoproteinosis|Urbach Wiethe Disease|Urbach-Wiethe Disease|Urbach Wiethe Lipoid Proteinosis|Urbach-Wiethe Lipoid Proteinosis|Urbach-Wiethe Syndrome Genetic disease (inborn)|Respiratory tract disease Lipoma MESH:D008067 DO:DOID:10192|DO:DOID:3315 A benign tumor composed of fat cells (ADIPOCYTES). It can be surrounded by a thin layer of connective tissue (encapsulated), or diffuse without the capsule. MESH:D018205 C04.557.450.550.400 C04.557.450.550 Atypical Lipoma|Atypical Lipomas|Fatty Tumor|Fatty Tumors|Hibernoma|Hibernomas|Lipoma, Atypical|Lipoma, Pleomorphic|Lipomas|Lipomas, Atypical|Lipomas, Pleomorphic|Lipomata|Lipomatas|Lipomatoses, Multiple|Lipomatosis, Multiple|Multiple Lipomatoses|Multiple Lipomatosis|Pleomorphic Lipoma|Pleomorphic Lipomas|Tumor, Fatty|Tumors, Fatty Cancer Lipoma of the Conjunctiva MESH:C563620 MESH:D003230|MESH:D008067 C04.557.450.550.400/C563620|C04.588.364.235/C563620|C11.187.169/C563620|C11.319.217/C563620 C04.557.450.550.400|C04.588.364.235|C11.187.169|C11.319.217 Cancer|Eye disease Lipomatosis MESH:D008068 DO:DOID:3153 A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA. MESH:D012871|MESH:D052439 C17.800.463|C18.452.584.718 C17.800|C18.452.584 Lipomatoses Metabolic disease|Skin disease LIPOMATOSIS, FAMILIAL MULTIPLE OMIM:151900 DO:DOID:14116|DO:DOID:3315 MESH:D000071070|MESH:D008067 C04.557.450.550.400/151900|C16.320.298/151900|C17.800.463.375/151900|C18.452.584.718.625/151900 C04.557.450.550.400|C16.320.298|C17.800.463.375|C18.452.584.718.625 FML|LIPO|LIPOMA|LIPOMATOSIS, MULTIPLE Cancer|Genetic disease (inborn)|Metabolic disease|Skin disease Lipomatosis, Multiple Symmetrical MESH:D008069 DO:DOID:14116 A condition characterized by the growth of unencapsulated masses of ADIPOSE TISSUE symmetrically deposited around the neck, shoulders, or other sites around the body. MESH:D008068 C17.800.463.500|C18.452.584.718.750 C17.800.463|C18.452.584.718 Benign Symmetrical Lipomatoses|Benign Symmetrical Lipomatosis|Cephalothoracic Lipodystrophies|Cephalothoracic Lipodystrophy|Circumscribed Lipomatoses, Nodular|Circumscribed Lipomatosis, Nodular|Disease, Madelung|Disease, Madelung's|Launois Bensaude Syndrome|Launois-Bensaude Syndrome|Lipodystrophies, Cephalothoracic|Lipodystrophy, Cephalothoracic|Lipomatoses, Multiple Symmetric|Lipomatoses, Nodular Circumscribed|Lipomatosis, Benign Symmetrical|Lipomatosis Familial Benign Cervical|Lipomatosis, Familial Benign Cervical|Lipomatosis, Multiple Symmetric|Lipomatosis, Nodular Circumscribed|Madelung Disease|Madelung Neck|Madelung's Disease|Madelungs Disease|Madelung's Neck|Madelungs Neck|Multiple Symmetrical Lipomatoses|Multiple Symmetrical Lipomatosis|Multiple Symmetric Lipomatoses|Multiple Symmetric Lipomatosis|Nodular Circumscribed Lipomatoses|Nodular Circumscribed Lipomatosis|Symmetrical Lipomatoses, Multiple|Symmetrical Lipomatosis, Benign|Symmetrical Lipomatosis, Multiple|Symmetric Lipomatoses, Multiple|Symmetric Lipomatosis, Multiple Metabolic disease|Skin disease Lipomatous hemangiopericytoma MESH:C537029 MESH:D006393|MESH:D008067|MESH:D012004 C04.557.450.550.400/C537029|C04.557.645.380/C537029|C04.588.274.476.411.307.790/C537029|C06.301.371.411.307.790/C537029|C06.405.249.411.307.790/C537029|C06.405.469.491.307.790/C537029|C06.405.469.860.180.500/C537029 C04.557.450.550.400|C04.557.645.380|C04.588.274.476.411.307.790|C06.301.371.411.307.790|C06.405.249.411.307.790|C06.405.469.491.307.790|C06.405.469.860.180.500 Cancer|Digestive system disease Lipomyelomeningocele MESH:C537030 MESH:D008591 C10.500.680.610/C537030|C16.131.666.680.610/C537030 C10.500.680.610|C16.131.666.680.610 Familial lipomyelomeningocele Congenital abnormality|Nervous system disease Lipoprotein Glomerulopathy MESH:C567089 OMIM:611771 MESH:D007674 C12.050.351.968.419/C567089|C12.200.777.419/C567089|C12.950.419/C567089 C12.050.351.968.419|C12.200.777.419|C12.950.419 LPG Urogenital disease (female)|Urogenital disease (male) Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia MESH:C563617 MESH:D006951 C18.452.584.500.500.644/C563617 C18.452.584.500.500.644 Metabolic disease Liposarcoma MESH:D008080 DO:DOID:3382|DO:DOID:5690|DO:DOID:5702 A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed) MESH:D012509|MESH:D018205 C04.557.450.550.420|C04.557.450.795.465 C04.557.450.550|C04.557.450.795 Atypical Lipomatous Tumor|Atypical Lipomatous Tumors|Dedifferentiated Liposarcoma|Dedifferentiated Liposarcomas|Lipomatous Tumor, Atypical|Liposarcoma, Dedifferentiated|Liposarcoma, Pleomorphic|Liposarcomas|Liposarcoma, Well Differentiated|Pleomorphic Liposarcoma|Pleomorphic Liposarcomas|Well Differentiated Liposarcoma|Well Differentiated Liposarcomas Cancer Liposarcoma, Myxoid MESH:D018208 DO:DOID:5363|OMIM:613488 A liposarcoma containing round mesenchymal cells and a myxoid extracellular matrix in stroma. MESH:D008080 C04.557.450.550.420.425|C04.557.450.795.465.425 C04.557.450.550.420|C04.557.450.795.465 Liposarcoma, Round Cell|Liposarcomas, Myxoid|Myxoid Liposarcoma|Myxoid Liposarcomas|Round Cell Liposarcoma|Round Cell Liposarcomas Cancer LIPOYLTRANSFERASE 1 DEFICIENCY OMIM:616299 MESH:D000140|MESH:D008661|MESH:D028361 C16.320.565/616299|C18.452.076.176.180/616299|C18.452.648/616299|C18.452.660/616299 C16.320.565|C18.452.076.176.180|C18.452.648|C18.452.660 LIPT1D Genetic disease (inborn)|Metabolic disease lip tie MESH:C000723647 MESH:D008047 C07.465.409/C000723647 C07.465.409 upper lip tie Mouth disease Lissencephaly MESH:D054082 DO:DOID:0050453|OMIM:607432|OMIM:614019|OMIM:615191|OMIM:617255 A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex. MESH:D054081 C10.500.507.450.499|C16.131.666.507.450.499 C10.500.507.450|C16.131.666.507.450 Agyria|Agyrias|Broad Gyri of Cerebrum|ILS|Large Gyri of Cerebrum|LIS1|LIS4|LIS5|LIS8|Lissencephalia|Lissencephalies|LISSENCEPHALY 1|LISSENCEPHALY 4|LISSENCEPHALY 4 WITH MICROCEPHALY|LISSENCEPHALY 5|LISSENCEPHALY 8|LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA, INCLUDED|LISSENCEPHALY SEQUENCE, ISOLATED|Macrogyria|Macrogyrias|Pachygyria|Pachygyrias|SBH, INCLUDED|SCLH, INCLUDED|SUBCORTICAL BAND HETEROTOPIA, INCLUDED Congenital abnormality|Nervous system disease Lissencephaly 3 MESH:C566908 DO:DOID:0112232|OMIM:611603 MESH:D008607|MESH:D008831|MESH:D054082 C05.660.207.620/C566908|C10.500.507.400.500/C566908|C10.500.507.450.499/C566908|C10.597.606.360/C566908|C16.131.621.207.620/C566908|C16.131.666.507.400.500/C566908|C16.131.666.507.450.499/C566908|C23.888.592.604.646/C566908|F03.625.539/C566908 C05.660.207.620|C10.500.507.400.500|C10.500.507.450.499|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.666.507.450.499|C23.888.592.604.646|F03.625.539 LIS3 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms LISSENCEPHALY 6 WITH MICROCEPHALY OMIM:616212 DO:DOID:0112236 MESH:D008831|MESH:D054082 C05.660.207.620/616212|C10.500.507.400.500/616212|C10.500.507.450.499/616212|C16.131.621.207.620/616212|C16.131.666.507.400.500/616212|C16.131.666.507.450.499/616212 C05.660.207.620|C10.500.507.400.500|C10.500.507.450.499|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.666.507.450.499 LIS6 Congenital abnormality|Musculoskeletal disease|Nervous system disease LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA OMIM:616342 DO:DOID:0112231 MESH:C562568|MESH:D054082 C10.500.507.450.499/616342|C10.500/C562568/616342|C16.131.666.507.450.499/616342|C16.131.666/C562568/616342|F03.625.421/C562568/616342 C10.500.507.450.499|C10.500/C562568|C16.131.666.507.450.499|C16.131.666/C562568|F03.625.421/C562568 LIS7 Congenital abnormality|Mental disorder|Nervous system disease Lissencephaly and agenesis of corpus callosum MESH:C531731 MESH:D054221|MESH:D061085 C10.500.034/C531731|C10.500.507.450.230/C531731|C10.500.507.450.499.230/C531731|C16.131.666.034/C531731|C16.131.666.507.450.230/C531731|C16.131.666.507.450.499.230/C531731|C16.320.322.500.186/C531731|C23.300.008/C531731 C10.500.034|C10.500.507.450.230|C10.500.507.450.499.230|C16.131.666.034|C16.131.666.507.450.230|C16.131.666.507.450.499.230|C16.320.322.500.186|C23.300.008 Subcortical laminar heterotopia, X-linked Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition) Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia MESH:C565781 MESH:D002972|MESH:D054082 C05.500.460.185/C565781|C05.660.207.540.460.185/C565781|C07.320.440.185/C565781|C07.465.525.185/C565781|C07.650.500.460.185/C565781|C07.650.525.185/C565781|C10.500.507.450.499/C565781|C16.131.621.207.540.460.185/C565781|C16.131.666.507.450.499/C565781|C16.131.850.500.460.185/C565781|C16.131.850.525.185/C565781 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.500.507.450.499|C16.131.621.207.540.460.185|C16.131.666.507.450.499|C16.131.850.500.460.185|C16.131.850.525.185 Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease Lissencephaly Type III and Bone Dysplasia MESH:C563383 MESH:D001848|MESH:D054082 C05.116.099/C563383|C10.500.507.450.499/C563383|C16.131.666.507.450.499/C563383 C05.116.099|C10.500.507.450.499|C16.131.666.507.450.499 Congenital abnormality|Musculoskeletal disease|Nervous system disease Lissencephaly, X-Linked, 2 MESH:C564563 OMIM:300215 MESH:D014564|MESH:D054221 C10.500.507.450.230/C564563|C10.500.507.450.499.230/C564563|C12.050.351.875/C564563|C12.200.706/C564563|C12.800/C564563|C16.131.666.507.450.230/C564563|C16.131.666.507.450.499.230/C564563|C16.131.939/C564563|C16.320.322.500.186/C564563 C10.500.507.450.230|C10.500.507.450.499.230|C12.050.351.875|C12.200.706|C12.800|C16.131.666.507.450.230|C16.131.666.507.450.499.230|C16.131.939|C16.320.322.500.186 Hydranencephaly and Abnormal Genitalia|Lissencephaly, X-Linked, with Ambiguous Genitalia|LISX2|XLAG|XLISG HYDRANENCEPHALY AND ABNORMAL GENITALIA, INCLUDED Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Listeriosis MESH:D008088 DO:DOID:11573 Infections with bacteria of the genus LISTERIA. MESH:D016908 C01.150.252.410.514 C01.150.252.410 Infection, Listeria|Infections, Listeria|Listeria Infection|Listeria Infections|Listerioses Bacterial infection or mycosis Lithiasis MESH:D020347 A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract. MESH:D010335 C23.550.537 C23.550 Calculoses|Calculosis|Lithiases Pathology (process) Littoral cell angioma of the spleen MESH:C537031 MESH:D006391|MESH:D013160 C04.557.645.375/C537031|C04.588.842/C537031|C15.604.744.680/C537031 C04.557.645.375|C04.588.842|C15.604.744.680 Littoral cell angioma Cancer|Lymphatic disease Livedoid Vasculopathy MESH:D000090122 A rare cutaneous thrombotic disease due to occlusion of dermal vessels. It is characterized by purpuric maculae and ulcerations especially during summer which form scars called atrophie blanche. It is more associated with other syndromes (e.g., PROTEIN C DEFICIENCY; HYPERHOMOCYSTEINEMIA). Livedo reticularis with systemic involvement and stroke is SNEDDON SYNDROME. MESH:D013927|MESH:D017445 C14.907.355.830.573|C17.800.862.406 C14.907.355.830|C17.800.862 Atrophic Blanche, Idiopathic|Blanches, Idiopathic Atrophic|Idiopathic Atrophic Blanche|Livedoid Vasculitis|Livedoid Vasculopathies|Livedo Reticularis with Summer Ulceration|Livedo Vasculitides|Livedo Vasculitis|Vasculitis, Livedo|Vasculitis, Livedoid|Vasculopathy, Livedoid|White Atrophy Cardiovascular disease|Skin disease Livedo Reticularis MESH:D054068 A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming. MESH:D000090122|MESH:D012877|MESH:D016491 C14.907.355.830.573.500|C14.907.617.625|C17.800.862.406.500|C23.888.885.437 C14.907.355.830.573|C14.907.617|C17.800.862.406|C23.888.885 Cutis Marmorata|Livedo Racemosa|Marmorata, Cutis|Racemosa, Livedo Cardiovascular disease|Signs and symptoms|Skin disease Liver Abscess MESH:D008100 Solitary or multiple collections of PUS within the liver as a result of infection by bacteria, protozoa, or other agents. MESH:D008107|MESH:D018784 C01.830.025.020.455|C06.552.597 C01.830.025.020|C06.552 Abscesses, Hepatic|Abscesses, Liver|Abscess, Hepatic|Abscess, Liver|Hepatic Abscess|Hepatic Abscesses|Liver Abscesses Digestive system disease Liver Abscess, Amebic MESH:D008101 Single or multiple areas of PUS due to infection by any ameboid protozoa (AMEBIASIS). A common form is caused by the ingestion of ENTAMOEBA HISTOLYTICA. MESH:D000562|MESH:D008100|MESH:D008109 C01.610.518.600|C01.610.752.049.703|C01.830.025.020.455.460|C06.552.597.517|C06.552.664.642 C01.610.518|C01.610.752.049|C01.830.025.020.455|C06.552.597|C06.552.664 Abscess, Amebic, Hepatic|Abscess, Amebic Liver|Abscess, Amoebic Hepatic|Abscess, Amoebic Liver|Abscesses, Amebic Liver|Abscesses, Amoebic Hepatic|Abscesses, Amoebic Liver|Abscess, Hepatic, Amebic|Abscess, Liver, Amebic|Amebiasis, Hepatic|Amebic Liver Abscess|Amebic Liver Abscesses|Amoebiasis, Hepatic|Amoebic Hepatic Abscess|Amoebic Hepatic Abscesses|Amoebic Liver Abscess|Amoebic Liver Abscesses|Entamoebiases, Hepatic|Entamoebiasis, Hepatic|Hepatic Abscess, Amoebic|Hepatic Abscesses, Amoebic|Hepatic Amebiasis|Hepatic Amoebiasis|Hepatic Entamoebiases|Hepatic Entamoebiasis|Liver Abscess, Amoebic|Liver Abscesses, Amebic|Liver Abscesses, Amoebic Digestive system disease|Parasitic disease Liver Abscess, Pyogenic MESH:D046290 Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION. MESH:D008100 C01.830.025.020.455.730|C06.552.597.758 C01.830.025.020.455|C06.552.597 Abscesses, Pyogenic Hepatic|Abscesses, Pyogenic Liver|Abscess, Pyogenic Hepatic|Abscess, Pyogenic Liver|Hepatic Abscesses, Pyogenic|Hepatic Abscess, Pyogenic|Liver Abscesses, Pyogenic|Pyogenic Hepatic Abscess|Pyogenic Hepatic Abscesses|Pyogenic Liver Abscess|Pyogenic Liver Abscesses Digestive system disease Liver Cirrhosis MESH:D008103 DO:DOID:5082 Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. MESH:D005355|MESH:D008107 C06.552.630|C23.550.355.412 C06.552|C23.550.355 Cirrhosis, Hepatic|Cirrhosis, Liver|Fibrosis, Liver|Hepatic Cirrhosis|Liver Fibrosis Digestive system disease|Pathology (process) Liver Cirrhosis, Alcoholic MESH:D008104 DO:DOID:14018 FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING. MESH:D008103|MESH:D008108 C06.552.630.380|C06.552.645.590|C23.550.355.412.380|C25.775.100.087.645.550 C06.552.630|C06.552.645|C23.550.355.412|C25.775.100.087.645 Alcoholic Cirrhosis|Alcoholic Hepatic Cirrhosis|Alcoholic Liver Cirrhosis|Hepatic Cirrhosis, Alcoholic Digestive system disease|Pathology (process)|Substance-related disorder Liver Cirrhosis, Biliary MESH:D008105 DO:DOID:12236|OMIM:109720|OMIM:614220|OMIM:614221 FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cholangitis involves the destruction of small intra-hepatic bile ducts and decreased bile secretion. Secondary biliary cholangitis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes. MESH:D002780|MESH:D008103 C06.130.120.135.250.250|C06.552.150.250|C06.552.630.400|C23.550.355.412.400 C06.130.120.135.250|C06.552.150|C06.552.630|C23.550.355.412 Biliary Cholangitides, Primary|Biliary Cholangitis, Primary|Biliary Cholangitis, Secondary|Biliary Cirrhosis|Biliary Cirrhosis, Primary|Biliary Cirrhosis, Primary, 1|BILIARY CIRRHOSIS, PRIMARY, 4|BILIARY CIRRHOSIS, PRIMARY, 5|Biliary Cirrhosis, Secondary|Cholangitides, Primary Biliary|Cholangitis, Chronic Nonsuppurative Destructive|Cholangitis, Primary Biliary|Cholangitis, Secondary Biliary|Cirrhosis, Biliary|Cirrhosis, Secondary Biliary|Liver Cirrhoses, Biliary|Liver Cirrhosis, Obstructive|Obstructive Liver Cirrhosis|PBC|PBC1|PBC4|PBC5|Primary Biliary Cholangitides|Primary Biliary Cholangitis|Primary Biliary Cirrhosis|Secondary Biliary Cholangitides|Secondary Biliary Cholangitis|Secondary Biliary Cirrhosis Digestive system disease|Pathology (process) Liver Cirrhosis, Experimental MESH:D008106 Experimentally induced chronic injuries to the parenchymal cells in the liver to achieve a model for LIVER CIRRHOSIS. MESH:D008103 C06.552.630.467|C23.550.355.412.467 C06.552.630|C23.550.355.412 Cirrhoses, Experimental Liver|Cirrhosis, Experimental Liver|Experimental Hepatic Cirrhosis|Experimental Liver Cirrhoses|Experimental Liver Cirrhosis|Hepatic Cirrhosis, Experimental|Liver Cirrhoses, Experimental Digestive system disease|Pathology (process) Liver Diseases MESH:D008107 DO:DOID:409 Pathological processes of the LIVER. MESH:D004066 C06.552 C06 Disease, Liver|Diseases, Liver|Dysfunction, Liver|Dysfunctions, Liver|Liver Disease|Liver Dysfunction|Liver Dysfunctions Digestive system disease Liver Diseases, Alcoholic MESH:D008108 Liver diseases associated with ALCOHOLISM. It usually refers to the coexistence of two or more subentities, i.e., ALCOHOLIC FATTY LIVER; ALCOHOLIC HEPATITIS; and ALCOHOLIC CIRRHOSIS. MESH:D008107|MESH:D020751 C06.552.645|C25.775.100.087.645 C06.552|C25.775.100.087 Alcoholic Liver Disease|Alcoholic Liver Diseases|Liver Disease, Alcoholic Digestive system disease|Substance-related disorder Liver Diseases, Parasitic MESH:D008109 Liver diseases caused by infections with PARASITES, such as tapeworms (CESTODA) and flukes (TREMATODA). MESH:D008107|MESH:D010272 C01.610.518|C06.552.664 C01.610|C06.552 Disease, Parasitic Liver|Diseases, Parasitic Liver|Liver Disease, Parasitic|Parasitic Liver Disease|Parasitic Liver Diseases Digestive system disease|Parasitic disease Liver Failure MESH:D017093 Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed) MESH:D048550 C06.552.308.500 C06.552.308 Hepatic Failure Digestive system disease Liver Failure, Acute MESH:D017114 A form of rapid-onset LIVER FAILURE, also known as fulminant hepatic failure, caused by severe liver injury or massive loss of HEPATOCYTES. It is characterized by sudden development of liver dysfunction and JAUNDICE. Acute liver failure may progress to exhibit cerebral dysfunction even HEPATIC COMA depending on the etiology that includes hepatic ISCHEMIA, drug toxicity, malignant infiltration, and viral hepatitis such as post-transfusion HEPATITIS B and HEPATITIS C. MESH:D017093 C06.552.308.500.750 C06.552.308.500 Acute Hepatic Failure|Acute Liver Failure|Failure, Acute Hepatic|Failure, Acute Liver|Fulminant Hepatic Failure|Fulminant Hepatic Failures|Fulminant Liver Failure|Fulminant Liver Failures|Fulminating Hepatic Failure|Fulminating Hepatic Failures|Fulminating Liver Failure|Fulminating Liver Failures|Hepatic Failure, Acute|Hepatic Failure, Fulminant|Hepatic Failure, Fulminating|Liver Failure, Fulminant|Liver Failure, Fulminating Digestive system disease LIVER FAILURE, INFANTILE, TRANSIENT OMIM:613070 DO:DOID:0080778 MESH:D017114 C06.552.308.500.750/613070 C06.552.308.500.750 LFIT Digestive system disease Liver Fibrocystic Disease and Polydactyly MESH:C565272 MESH:D008107|MESH:D017689 C05.660.585.600/C565272|C06.552/C565272|C16.131.621.585.600/C565272 C05.660.585.600|C06.552|C16.131.621.585.600 Congenital abnormality|Digestive system disease|Musculoskeletal disease Liver Glycogenosis, X-Linked, Type II MESH:C564421 MESH:D006008|MESH:D040181 C16.320.322/C564421|C16.320.565.202.449/C564421|C18.452.648.202.449/C564421 C16.320.322|C16.320.565.202.449|C18.452.648.202.449 Genetic disease (inborn)|Metabolic disease Liver Neoplasms MESH:D008113 DO:DOID:3571 Tumors or cancer of the LIVER. MESH:D004067|MESH:D008107 C04.588.274.623|C06.301.623|C06.552.697 C04.588.274|C06.301|C06.552 Cancer, Hepatic|Cancer, Hepatocellular|Cancer, Liver|Cancer of Liver|Cancer of the Liver|Cancers, Hepatic|Cancers, Hepatocellular|Cancers, Liver|Hepatic Cancer|Hepatic Cancers|Hepatic Neoplasm|Hepatic Neoplasms|Hepatocellular Cancer|Hepatocellular Cancers|Liver Cancer|Liver Cancers|Liver Neoplasm|Neoplasm, Hepatic|Neoplasm, Liver|Neoplasms, Hepatic|Neoplasms, Liver Cancer|Digestive system disease Liver Neoplasms, Experimental MESH:D008114 Experimentally induced tumors of the LIVER. MESH:D008113|MESH:D009374 C04.588.274.623.460|C04.619.540|C06.301.623.460|C06.552.697.580 C04.588.274.623|C04.619|C06.301.623|C06.552.697 Experimental Hepatoma|Experimental Hepatomas|Experimental Liver Neoplasm|Experimental Liver Neoplasms|Hepatoma, Experimental|Hepatoma, Morris|Hepatoma, Novikoff|Hepatomas, Experimental|Liver Neoplasm, Experimental|Morris Hepatoma|Neoplasms, Experimental Liver|Novikoff Hepatoma Cancer|Digestive system disease Lobomycosis MESH:D060368 DO:DOID:13026 A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol. MESH:D003881 C01.150.703.302.475|C01.800.200.475|C17.800.838.208.475 C01.150.703.302|C01.800.200|C17.800.838.208 Blastomycoses, Keloidal|Blastomycosis, Keloidal|Disease, Jorge Lobo|Disease, Jorge Lobo's|Disease, Lacaziosis-like|Disease, Lobomycosis-like|Infection, Lacazia loboi|Jorge Lobo Disease|Jorge Lobo's Disease|Jorge Lobos Disease|Keloidal Blastomycoses|Keloidal Blastomycosis|Lacazia loboi Infection|Lacazia loboi Infections|Lacazioses|Lacaziosis|Lacaziosis like Disease|Lacaziosis-like Disease|Lacaziosis-like Diseases|Lobomycoses|Lobomycosis like Disease|Lobomycosis-like Disease|Lobomycosis-like Diseases Bacterial infection or mycosis|Skin disease Locked-In Syndrome MESH:D000080422 DO:DOID:12697 Acquired neuromuscular disorder characterized by complete paralysis of voluntary muscles and lower CRANIAL NERVES except for limited voluntary eye movements. It is due to various cerebrospinal disconnections at or near the PONS and the POSTERIOR CRANIAL FOSSA, typically secondary to pontine hemorrhage or infarct. Because cognitive function is intact it is sometimes referred to as a pseudocoma state. MESH:D009468|MESH:D011782 C10.597.622.760.500|C10.668.416|C23.888.592.636.786.500 C10.597.622.760|C10.668|C23.888.592.636.786 Cerebromedullospinal Disconnection|Cerebromedullospinal Disconnections|Locked In Syndrome|Locked-In Syndromes|Ventral Pontine Syndrome|Ventral Pontine Syndromes Nervous system disease|Signs and symptoms LODDER-MERLA SYNDROME, TYPE 1, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CARDIAC ARRHYTHMIA OMIM:617173 DO:DOID:0081008 MESH:D001145|MESH:D008607|MESH:D011596 C10.597.606.360/617173|C10.597.606.881/617173|C14.280.067/617173|C23.550.073/617173|C23.888.592.604.646/617173|C23.888.592.604.882/617173|F03.625.539/617173 C10.597.606.360|C10.597.606.881|C14.280.067|C23.550.073|C23.888.592.604.646|C23.888.592.604.882|F03.625.539 IDDCA|INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA|LDMLS1 Cardiovascular disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT CARDIAC ARRHYTHMIA OMIM:617182 MESH:D001145|MESH:D001289|MESH:D002658|MESH:D003072|MESH:D007805 C10.597.606.150.500.550/617182|C14.280.067/617182|C23.550.073/617182|C23.888.592.604.150.500.550/617182|F03.615.250/617182|F03.625.094.150/617182|F03.625.421/617182 C10.597.606.150.500.550|C14.280.067|C23.550.073|C23.888.592.604.150.500.550|F03.615.250|F03.625.094.150|F03.625.421 LADCI|LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA|LDMLS2 Cardiovascular disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Loeys-Dietz Syndrome MESH:D055947 DO:DOID:0050466|OMIM:609192|OMIM:613795|OMIM:614816|OMIM:615582 An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME. MESH:D000015|MESH:D001014|MESH:D019465|MESH:D030342 C05.660.207.532|C14.907.055.239.587|C14.907.109.139.587|C16.131.077.537|C16.320.510 C05.660.207|C14.907.055.239|C14.907.109.139|C16.131.077|C16.320 AAT5|ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS|ANEURYSMS-OSTEOARTHRITIS SYNDROME|AORTIC ANEURYSM, FAMILIAL THORACIC 5|FURLONG SYNDROME|LDS1|LDS1C, FORMERLY|LDS3|LDS4|LDS5|Loeys Dietz Aortic Aneurysm Syndrome|Loeys-Dietz Aortic Aneurysm Syndrome|Loeys Dietz Syndrome|LOEYS-DIETZ SYNDROME 1|LOEYS-DIETZ SYNDROME 3|LOEYS-DIETZ SYNDROME 4|LOEYS-DIETZ SYNDROME 5|Loeys Dietz Syndrome, Type 1a|Loeys-Dietz Syndrome, Type 1a|LOEYS-DIETZ SYNDROME, TYPE 1C, FORMERLY|LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS|RIENHOFF SYNDROME|RNHF|Syndrome, Loeys-Dietz Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease LOEYS-DIETZ SYNDROME 2 OMIM:610168 DO:DOID:0070234 MESH:C537783 C05.660.207.532/C537783/610168|C14.907.055.239.125/C537783/610168|C14.907.055.239.587/C537783/610168|C14.907.109.139.125/C537783/610168|C14.907.109.139.587/C537783/610168|C16.131.077.537/C537783/610168|C16.320.510/C537783/610168 C05.660.207.532/C537783|C14.907.055.239.125/C537783|C14.907.055.239.587/C537783|C14.907.109.139.125/C537783|C14.907.109.139.587/C537783|C16.131.077.537/C537783|C16.320.510/C537783 AAT3|AORTIC ANEURYSM, FAMILIAL THORACIC 3|LDS2|MARFAN SYNDROME, TYPE II, FORMERLY Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Loeys-Dietz Syndrome, Type 1b MESH:C567181 MESH:D017545|MESH:D055947 C05.660.207.532/C567181|C14.907.055.239.125/C567181|C14.907.055.239.587/C567181|C14.907.109.139.125/C567181|C14.907.109.139.587/C567181|C16.131.077.537/C567181|C16.320.510/C567181 C05.660.207.532|C14.907.055.239.125|C14.907.055.239.587|C14.907.109.139.125|C14.907.109.139.587|C16.131.077.537|C16.320.510 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Loeys-Dietz Syndrome, Type 2A MESH:C567156 MESH:D017545|MESH:D055947 C05.660.207.532/C567156|C14.907.055.239.125/C567156|C14.907.055.239.587/C567156|C14.907.109.139.125/C567156|C14.907.109.139.587/C567156|C16.131.077.537/C567156|C16.320.510/C567156 C05.660.207.532|C14.907.055.239.125|C14.907.055.239.587|C14.907.109.139.125|C14.907.109.139.587|C16.131.077.537|C16.320.510 Aortic Aneurysm, Familial Thoracic 5 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Loiasis MESH:D008118 DO:DOID:13523 A parasitic infection caused by the nematode Loa loa. The vector in the transmission of this infection is the horsefly (Tabanus) or the deerfly or mango fly (Chrysops). The larvae may be seen just beneath the skin or passing through the conjunctiva. Eye lesions are not uncommon. The disease is generally mild and painless. MESH:D005368 C01.610.335.508.700.750.361.518 C01.610.335.508.700.750.361 Filariasis, Loa loa|Infection, Loa loa|Loaiases|Loaiasis|Loa loa Filariases|Loa loa Filariasis|Loa loa Infection|Loa loa Infections|Loiases Parasitic disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY OMIM:609016 MESH:D008661 C16.320.565/609016|C18.452.648/609016 C16.320.565|C18.452.648 LCHAD DEFICIENCY Genetic disease (inborn)|Metabolic disease Long-chain acyl-CoA dehydrogenase deficiency MESH:C535690 MESH:D008052 C16.320.565.398/C535690|C18.452.584.563/C535690|C18.452.648.398/C535690 C16.320.565.398|C18.452.584.563|C18.452.648.398 Acyl-Coa Dehydrogenase, Long-Chain, Deficiency of Genetic disease (inborn)|Metabolic disease Long QT Syndrome MESH:D008133 DO:DOID:2843 A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME. MESH:D000075224|MESH:D001145|MESH:D006330 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 C14.280.067|C14.280.123|C16.131.240.400|C23.550.073 Electrocardiogram QT Prolonged Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 10 MESH:C567514 DO:DOID:0110651|OMIM:611819 MESH:D008133 C14.280.067.565/C567514|C14.280.123.625/C567514|C16.131.240.400.715/C567514|C23.550.073.547/C567514 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 ATFB17, INCLUDED|ATRIAL FIBRILLATION, FAMILIAL, 17, INCLUDED|LQT10 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 11 MESH:C567513 DO:DOID:0110652|OMIM:611820 MESH:D008133 C14.280.067.565/C567513|C14.280.123.625/C567513|C16.131.240.400.715/C567513|C23.550.073.547/C567513 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 LQT11 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 1-2 MESH:C566006 MESH:D029597 C14.280.067.565.720/C566006|C14.280.123.625.720/C566006|C16.131.240.400.715.720/C566006|C23.550.073.547.720/C566006 C14.280.067.565.720|C14.280.123.625.720|C16.131.240.400.715.720|C23.550.073.547.720 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 12 MESH:C567842 DO:DOID:0110653|OMIM:612955 MESH:D008133 C14.280.067.565/C567842|C14.280.123.625/C567842|C16.131.240.400.715/C567842|C23.550.073.547/C567842 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 LQT12 Cardiovascular disease|Congenital abnormality|Pathology (process) LONG QT SYNDROME 13 OMIM:613485 DO:DOID:0110654 MESH:D008133 C14.280.067.565/613485|C14.280.123.625/613485|C16.131.240.400.715/613485|C23.550.073.547/613485 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 LQT13 Cardiovascular disease|Congenital abnormality|Pathology (process) LONG QT SYNDROME 14 OMIM:616247 DO:DOID:0110655 MESH:D008133 C14.280.067.565/616247|C14.280.123.625/616247|C16.131.240.400.715/616247|C23.550.073.547/616247 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 LQT14 Cardiovascular disease|Congenital abnormality|Pathology (process) LONG QT SYNDROME 15 OMIM:616249 DO:DOID:0110656 MESH:D008133 C14.280.067.565/616249|C14.280.123.625/616249|C16.131.240.400.715/616249|C23.550.073.547/616249 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 LQT15 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 2 MESH:C563614 DO:DOID:0110645|OMIM:613688 MESH:D008133 C14.280.067.565/C563614|C14.280.123.625/C563614|C16.131.240.400.715/C563614|C23.550.073.547/C563614 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 LONG QT SYNDROME 1/2, DIGENIC, INCLUDED;LQT1/2, DIGENIC, INCLUDED|LONG QT SYNDROME 2/3, DIGENIC, INCLUDED;LQT2/3, DIGENIC, INCLUDED|LONG QT SYNDROME 2/5, DIGENIC, INCLUDED;LQT2/5, DIGENIC, INCLUDED|LONG QT SYNDROME 2/9, DIGENIC, INCLUDED;LQT2/9, DIGENIC, INCLUDED|LQT2 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 2-3 MESH:C565841 MESH:D008133 C14.280.067.565/C565841|C14.280.123.625/C565841|C16.131.240.400.715/C565841|C23.550.073.547/C565841 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 2-5 MESH:C566765 MESH:D008133 C14.280.067.565/C566765|C14.280.123.625/C566765|C16.131.240.400.715/C566765|C23.550.073.547/C566765 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 3 MESH:C565840 DO:DOID:0110646|OMIM:603830 MESH:D008133 C14.280.067.565/C565840|C14.280.123.625/C565840|C16.131.240.400.715/C565840|C23.550.073.547/C565840 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 LONG QT SYNDROME 2/3, DIGENIC, INCLUDED;LQT2/3, DIGENIC, INCLUDED|LONG QT SYNDROME 3/6, DIGENIC, INCLUDED;LQT3/6, DIGENIC, INCLUDED|LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED|LQT3 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 3-6 MESH:C566334 MESH:D008133 C14.280.067.565/C566334|C14.280.123.625/C566334|C16.131.240.400.715/C566334|C23.550.073.547/C566334 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 4 MESH:C563428 DO:DOID:0111701 MESH:D008133 C14.280.067.565/C563428|C14.280.123.625/C563428|C16.131.240.400.715/C563428|C23.550.073.547/C563428 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 5 MESH:C566766 DO:DOID:0110647|OMIM:613695 MESH:D008133 C14.280.067.565/C566766|C14.280.123.625/C566766|C16.131.240.400.715/C566766|C23.550.073.547/C566766 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 LONG QT SYNDROME 2/5, DIGENIC, INCLUDED;LQT2/5, DIGENIC, INCLUDED|LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED|LQT5 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 6 MESH:C566333 DO:DOID:0110648|OMIM:613693 MESH:D008133 C14.280.067.565/C566333|C14.280.123.625/C566333|C16.131.240.400.715/C566333|C23.550.073.547/C566333 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 LONG QT SYNDROME 3/6, DIGENIC, INCLUDED;LQT3/6, DIGENIC, INCLUDED|LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED|LQT6 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Qt Syndrome 9 MESH:C567515 DO:DOID:0110650|OMIM:611818 MESH:D008133 C14.280.067.565/C567515|C14.280.123.625/C567515|C16.131.240.400.715/C567515|C23.550.073.547/C567515 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 Long Qt Syndrome 2-9|LONG QT SYNDROME 2/9, DIGENIC, INCLUDED;LQT2/9, DIGENIC, INCLUDED|LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED|LQT9 Cardiovascular disease|Congenital abnormality|Pathology (process) Long QT syndrome type 3 MESH:C537034 MESH:D000075224|MESH:D008133 C14.280.067.565/C537034|C14.280.123.625/C537034|C14.280.123/C537034|C16.131.240.400.715/C537034|C23.550.073.547/C537034 C14.280.067.565|C14.280.123|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 Cardiovascular disease|Congenital abnormality|Pathology (process) Long Term Adverse Effects MESH:D000069451 Persistent detrimental effects from treatment for a condition. Included are effects from surgery such as POSTOPERATIVE COMPLICATIONS, and from DRUG THERAPY, such as CHEMICALLY INDUCED DISORDERS, or other THERAPEUTICS. Failure to attain a desired outcome from treatment for the condition is not considered an adverse effect. MESH:D010335 C23.550.543 C23.550 Adverse Effects, Long Term Pathology (process) Loose Anagen Hair Syndrome MESH:D058247 DO:DOID:0111702|OMIM:600628 Benign childhood alopecia that improves spontaneously with aging. It is characterized by anagen hairs (misshapen hair bulbs and absent inner and outer root sheaths), thin, and sparse hairs that pulls out easily. MESH:D000505 C17.800.329.937.122.348|C23.300.035.500 C17.800.329.937.122|C23.300.035 Anagen Syndrome, Loose|Anagen Syndromes, Loose|Loose Anagen Syndrome|Loose Anagen Syndromes|Syndrome, Loose Anagen|Syndromes, Loose Anagen Pathology (anatomical condition)|Skin disease Lopes Gorlin syndrome MESH:C537036 MESH:D000015 C16.131.077/C537036 C16.131.077 Short tarsus absence of lower eyelashes|Short Tarsus with Absence of Lower Eyelashes Congenital abnormality Lordosis MESH:D008141 The anterior concavity in the curvature of the lumbar and cervical spine as viewed from the side. The term usually refers to abnormally increased curvature (hollow back, saddle back, swayback). It does not include lordosis as normal mating posture in certain animals ( = POSTURE + SEX BEHAVIOR, ANIMAL). MESH:D013121 C05.116.900.800.750 C05.116.900.800 Musculoskeletal disease Loss of reflex tearing MESH:C000721448 MESH:D012021|MESH:D015352 C10.597.704/C000721448|C11.496.260/C000721448|C23.888.592.717/C000721448 C10.597.704|C11.496.260|C23.888.592.717 Reflex tearing loss Eye disease|Nervous system disease|Signs and symptoms Louping Ill MESH:D008146 DO:DOID:10250 An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep. MESH:D012757|MESH:D018177 C01.925.782.350.250.650|C22.836.435 C01.925.782.350.250|C22.836 Ill, Louping Animal disease|Viral disease Low Anterior Resection Syndrome MESH:D000094123 Postoperative complication after removal of the RECTUM (low anterior resection surgery or resection surgery to the lower part of the COLON). It includes disordered rectum function, e.g., frequent BOWEL MOVEMENT; FECAL INCONTINENCE; and CONSTIPATION. MESH:D003108|MESH:D011183|MESH:D012002 C06.405.469.158.644|C06.405.469.860.512|C23.550.767.550 C06.405.469.158|C06.405.469.860|C23.550.767 Digestive system disease|Pathology (process) Low Back Pain MESH:D017116 Acute or chronic pain in the lumbar or sacral regions, which may be associated with musculo-ligamentous SPRAINS AND STRAINS; INTERVERTEBRAL DISK DISPLACEMENT; and other conditions. MESH:D001416 C23.888.592.612.107.400 C23.888.592.612.107 Ache, Low Back|Aches, Low Back|Backache, Low|Back Ache, Low|Backaches, Low|Back Aches, Low|Back Pain, Low|Back Pain, Lower|Back Pains, Low|Back Pains, Lower|Low Backache|Low Back Ache|Low Backaches|Low Back Aches|Low Back Pain, Mechanical|Low Back Pain, Posterior Compartment|Low Back Pain, Postural|Low Back Pain, Recurrent|Low Back Pains|Lower Back Pain|Lower Back Pains|Lumbago|Mechanical Low Back Pain|Pain, Low Back|Pain, Lower Back|Pains, Low Back|Pains, Lower Back|Postural Low Back Pain|Recurrent Low Back Pain Signs and symptoms Lower Extremity Deformities, Congenital MESH:D038061 Congenital structural abnormalities of the LOWER EXTREMITY. MESH:D017880 C05.660.585.512|C16.131.621.585.512 C05.660.585|C16.131.621.585 Lower Limb Deformities, Congenital Congenital abnormality|Musculoskeletal disease Lower Urinary Tract Symptoms MESH:D059411 Symptoms of disorders of the lower urinary tract including frequency, NOCTURIA; urgency, incomplete voiding, and URINARY INCONTINENCE. They are often associated with OVERACTIVE BLADDER; URINARY INCOMPETENCE; and INTERSTITIAL CYSTITIS. Lower urinary tract symptoms in males were traditionally called PROSTATISM. MESH:D020924 C23.888.942.343 C23.888.942 Lower Urinary Tract Symptom Signs and symptoms Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis MESH:C545036 OMIM:308990 MESH:D057973 C12.050.351.968.419.815.364/C545036|C12.200.777.419.815.364/C545036|C12.950.419.815.364/C545036|C16.320.322.100/C545036|C16.320.831.271/C545036 C12.050.351.968.419.815.364|C12.200.777.419.815.364|C12.950.419.815.364|C16.320.322.100|C16.320.831.271 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Lown-Ganong-Levine Syndrome MESH:D008151 DO:DOID:13087 A form of ventricular pre-excitation characterized by a short PR interval and a normal QRS complex. In this syndrome, the atrial impulse conducts via the JAMES FIBERS which connect the atrium to BUNDLE OF HIS bypassing the upper ATRIOVENTRICULAR NODE. HEART VENTRICLES are depolarized normally through the His-Purkinje system. MESH:D011226 C14.280.067.780.560|C14.280.123.750.560 C14.280.067.780|C14.280.123.750 Lown Ganong Levine Syndrome|Short PR Normal QRS Complex Syndrome|Short PR-Normal QRS Complex Syndrome|Syndrome, Lown-Ganong-Levine Cardiovascular disease Lowry Maclean syndrome MESH:C537037 MESH:D000015|MESH:D002972|MESH:D003398|MESH:D003965|MESH:D005901|MESH:D006130|MESH:D006330|MESH:D008607|MESH:D010013 C05.116.099.370.894.232/C537037|C05.116.099.708.685/C537037|C05.500.460.185/C537037|C05.660.207.240/C537037|C05.660.207.540.460.185/C537037|C05.660.906.364/C537037|C06.198.257/C537037|C07.320.440.185/C537037|C07.465.525.185/C537037|C07.650.500.460.185/C537037|C07.650.525.185/C537037|C10.597.606.360/C537037|C11.525.381/C537037|C14.240.400/C537037|C14.280.400/C537037|C16.131.077/C537037|C16.131.240.400/C537037|C16.131.314.244/C537037|C16.131.621.207.240/C537037|C16.131.621.207.540.460.185/C537037|C16.131.621.906.364/C537037|C16.131.850.500.460.185/C537037|C16.131.850.525.185/C537037|C16.320.737/C537037|C17.300.200.540/C537037|C23.550.393/C537037|C23.888.592.604.646/C537037|F03.625.539/C537037 C05.116.099.370.894.232|C05.116.099.708.685|C05.500.460.185|C05.660.207.240|C05.660.207.540.460.185|C05.660.906.364|C06.198.257|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.597.606.360|C11.525.381|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.314.244|C16.131.621.207.240|C16.131.621.207.540.460.185|C16.131.621.906.364|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.737|C17.300.200.540|C23.550.393|C23.888.592.604.646|F03.625.539 Lowry-Maclean Syndrome|Mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis, and growth failure Cardiovascular disease|Congenital abnormality|Connective tissue disease|Digestive system disease|Eye disease|Genetic disease (inborn)|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Lowry Wood syndrome MESH:C537038 MESH:D006130|MESH:D008607|MESH:D008831|MESH:D010009 C05.116.099.708/C537038|C05.660.207.620/C537038|C10.500.507.400.500/C537038|C10.597.606.360/C537038|C16.131.621.207.620/C537038|C16.131.666.507.400.500/C537038|C16.320.728/C537038|C23.550.393/C537038|C23.888.592.604.646/C537038|F03.625.539/C537038 C05.116.099.708|C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.728|C23.550.393|C23.888.592.604.646|F03.625.539 Epiphyseal dysplasia, microcephaly and nystagmus|Epiphyseal Dysplasia, Microcephaly, And Nystagmus|Lowry-Wood Syndrome Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Low Tension Glaucoma MESH:D057066 DO:DOID:13544 A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure. MESH:D005901|MESH:D009901 C11.525.381.703|C11.640.225 C11.525.381|C11.640 Glaucoma, Low Tension|Glaucoma, Normal Tension|Low Tension Glaucomas|Normal Tension Glaucoma|Normal Tension Glaucomas Eye disease Lp(A) Deficiency, Congenital MESH:C563618 MESH:D008052 C16.320.565.398/C563618|C18.452.584.563/C563618|C18.452.648.398/C563618 C16.320.565.398|C18.452.584.563|C18.452.648.398 Lipoprotein(A) Deficiency, Congenital Genetic disease (inborn)|Metabolic disease Lubani Al Saleh Teebi syndrome MESH:C537039 MESH:D000749|MESH:D003550|MESH:D008607|MESH:D016481 C01.150.252.400.466/C537039|C06.689.202/C537039|C08.381.187/C537039|C10.597.606.360/C537039|C15.378.071.252.196/C537039|C16.320.190/C537039|C16.614.213/C537039|C23.888.592.604.646/C537039|F03.625.539/C537039 C01.150.252.400.466|C06.689.202|C08.381.187|C10.597.606.360|C15.378.071.252.196|C16.320.190|C16.614.213|C23.888.592.604.646|F03.625.539 Bacterial infection or mycosis|Blood disease|Digestive system disease|Genetic disease (inborn)|Infant-newborn disease|Mental disorder|Nervous system disease|Respiratory tract disease|Signs and symptoms Lubinsky syndrome MESH:C543092 MESH:D002386|MESH:D007006 C11.510.245/C543092|C19.391.482/C543092 C11.510.245|C19.391.482 Cataracts and testicular failure|Hypogonadism-Cataract Syndrome Endocrine system disease|Eye disease Lubs syndrome MESH:C538435 MESH:D013734 C12.050.351.875.253.096.500/C538435|C12.200.706.316.096.500/C538435|C12.800.316.096.500/C538435|C16.131.939.316.096.500/C538435|C16.320.322.061/C538435|C19.391.119.096.500/C538435 C12.050.351.875.253.096.500|C12.200.706.316.096.500|C12.800.316.096.500|C16.131.939.316.096.500|C16.320.322.061|C19.391.119.096.500 Pseudohermaphroditism, Incomplete Male, Type I|Rosewater syndrome|Type I familial incomplete male pseudohermaphroditism Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Lubs X-linked mental retardation syndrome MESH:C537723 DO:DOID:0060799|OMIM:300260 MESH:D038901 C10.597.606.360.455/C537723|C16.320.322.500/C537723|C16.320.400.525/C537723 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE|LUBS X-LINKED MENTAL RETARDATION SYNDROME|MECP2 Duplication Syndrome|Mental retardation, X-linked, Lubs type|Mental Retardation, X-Linked, With Recurrent Respiratory Infections|MRXSL|Trisomy Xq28|XLMR syndrome, Lubs type Genetic disease (inborn)|Nervous system disease Ludwig's Angina MESH:D008158 DO:DOID:4558 Severe cellulitis of the submaxillary space with secondary involvement of the perimandibular spaces. It usually results from infection in the lower molar area or from an infection following a penetrating injury to the MOUTH FLOOR. MESH:D002481|MESH:D009059 C01.800.130.500|C07.465.433 C01.800.130|C07.465 Angina, Ludwig's|Ludwig Angina|Ludwigs Angina|Submandibular Space Infection|Submandibular Space Infections Mouth disease Lujan Fryns syndrome MESH:C537724 DO:DOID:0060821|OMIM:309520 MESH:D008382|MESH:D019465|MESH:D038901 C05.116.099.674/C537724|C05.660.207/C537724|C10.597.606.360.455/C537724|C14.240.400.725/C537724|C14.280.400.725/C537724|C16.131.077.550/C537724|C16.131.240.400.720/C537724|C16.131.621.207/C537724|C16.320.322.500/C537724|C16.320.400.525/C537724|C16.320.540/C537724|C17.300.500/C537724 C05.116.099.674|C05.660.207|C10.597.606.360.455|C14.240.400.725|C14.280.400.725|C16.131.077.550|C16.131.240.400.720|C16.131.621.207|C16.320.322.500|C16.320.400.525|C16.320.540|C17.300.500 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE|Lujan-Fryns Syndrome|Lujan Syndrome|Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies|Mental retardation, X-linked, with marfanoid habitus|MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 1|MRXSLF|X-Linked Intellectual Deficit with Marfanoid Habitus|X-Linked Mental Retardation with Marfanoid Habitus|XLMR with Marfanoid Features Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Lujo hemorrhagic fever MESH:C000723471 MESH:D001117|MESH:D006482 C01.925.782.082/C000723471|C01.925.782.417/C000723471 C01.925.782.082|C01.925.782.417 Lujo virus infection Viral disease Lumbar Stenosis, Familial MESH:C563613 MESH:D003251 C23.300.287/C563613 C23.300.287 Pathology (anatomical condition) Lumpy Skin Disease MESH:D008166 A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin. MESH:D002418|MESH:D011213 C01.925.256.743.494|C22.196.497 C01.925.256.743|C22.196 Disease, Lumpy Skin|Diseases, Lumpy Skin|Lumpy Skin Diseases|Skin Disease, Lumpy|Skin Diseases, Lumpy Animal disease|Viral disease Lung Abscess MESH:D008169 DO:DOID:0060317 Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents. MESH:D000038|MESH:D008171|MESH:D012141 C01.748.407|C01.830.025.490|C08.381.450|C08.730.407 C01.748|C01.830.025|C08.381|C08.730 Abscesses, Lung|Abscesses, Pulmonary|Abscess, Lung|Abscess, Pulmonary|Lung Abscesses|Pulmonary Abscess|Pulmonary Abscesses Respiratory tract disease Lung agenesis MESH:C562992 MESH:D000015|MESH:D008171 C08.381/C562992|C16.131.077/C562992 C08.381|C16.131.077 Congenital lung agenesis|Pulmonary agenesis|Pulmonary Hypoplasia, Primary|Unilateral lobar pulmonary agenesis|Unilateral lung agenesis Congenital abnormality|Respiratory tract disease LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME OMIM:617241 MESH:D007153|MESH:D008171|MESH:D019457 C08.381/617241|C20.673/617241|C23.550.210.170/617241 C08.381|C20.673|C23.550.210.170 LICS Immune system disease|Pathology (process)|Respiratory tract disease Lung Diseases MESH:D008171 DO:DOID:850 Pathological processes involving any part of the LUNG. MESH:D012140 C08.381 C08 Disease, Lung|Disease, Pulmonary|Diseases, Lung|Diseases, Pulmonary|Lung Disease|Pulmonary Disease|Pulmonary Diseases Respiratory tract disease Lung Diseases, Fungal MESH:D008172 Pulmonary diseases caused by fungal infections, usually through hematogenous spread. MESH:D008171|MESH:D009181|MESH:D012141 C01.150.703.534|C01.748.435|C08.381.472|C08.730.435 C01.150.703|C01.748|C08.381|C08.730 Fungal Disease, Pulmonary|Fungal Diseases, Pulmonary|Fungal Infection, Pulmonary|Fungal Infections, Pulmonary|Fungal Lung Disease|Fungal Lung Diseases|Lung Disease, Fungal|Pulmonary Fungal Disease|Pulmonary Fungal Diseases|Pulmonary Fungal Infection|Pulmonary Fungal Infections Bacterial infection or mycosis|Respiratory tract disease Lung Diseases, Interstitial MESH:D017563 DO:DOID:3082 A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. MESH:D008171 C08.381.483 C08.381 Diffuse Parenchymal Lung Disease|Diffuse Parenchymal Lung Diseases|Interstitial Lung Disease|Interstitial Lung Diseases|Interstitial Pneumonia|Interstitial Pneumonias|Interstitial Pneumonitides|Interstitial Pneumonitis|Lung Disease, Interstitial|Pneumonia, Interstitial|Pneumonias, Interstitial|Pneumonitides, Interstitial|Pneumonitis, Interstitial Respiratory tract disease Lung Diseases, Obstructive MESH:D008173 DO:DOID:2320 Any disorder marked by obstruction of conducting airways of the lung. AIRWAY OBSTRUCTION may be acute, chronic, intermittent, or persistent. MESH:D008171 C08.381.495 C08.381 Lung Disease, Obstructive|Obstructive Lung Disease|Obstructive Lung Diseases|Obstructive Pulmonary Disease|Obstructive Pulmonary Diseases|Pulmonary Disease, Obstructive|Pulmonary Diseases, Obstructive Respiratory tract disease Lung Diseases, Parasitic MESH:D008174 Infections of the lungs with parasites, most commonly by parasitic worms (HELMINTHS). MESH:D008171|MESH:D010272|MESH:D012141 C01.610.582|C01.748.450|C08.381.517|C08.730.450 C01.610|C01.748|C08.381|C08.730 Lung Disease, Parasitic|Lung Parasitic Infection|Lung Parasitic Infections|Parasitic Infection, Pulmonary|Parasitic Infections of Lung|Parasitic Infections, Pulmonary|Parasitic Lung Disease|Parasitic Lung Diseases|Pulmonary Parasitic Infection|Pulmonary Parasitic Infections Parasitic disease|Respiratory tract disease Lung, Hyperlucent MESH:D019568 DO:DOID:10032 A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or PNEUMOTHORAX. MESH:D008171 C08.381.570 C08.381 Hyperlucent Lung|Hyperlucent Lungs|Hyperlucent Lungs, Unilateral|Hyperlucent Lung, Unilateral|Hyperlucent Thorax|Lungs, Hyperlucent|Lungs, Unilateral Hyperlucent|Lung, Unilateral Hyperlucent|MacLeod Syndrome|Swyer James Syndrome|Swyer-James Syndrome|Syndrome, MacLeod|Syndrome, Swyer-James|Thorax, Hyperlucent|Unilateral Hyperlucent Lung|Unilateral Hyperlucent Lungs Respiratory tract disease Lung Injury MESH:D055370 Damage to any compartment of the lung caused by physical, chemical, or biological agents which characteristically elicit inflammatory reaction. These inflammatory reactions can either be acute and dominated by NEUTROPHILS, or chronic and dominated by LYMPHOCYTES and MACROPHAGES. MESH:D008171|MESH:D013898 C08.381.520|C26.891.554 C08.381|C26.891 Chronic Lung Injuries|Chronic Lung Injury|E Cigarette or Vaping Product Use Associated Lung Injury|E-Cigarette or Vaping Product Use-Associated Lung Injury|E Cigarette Use Associated Lung Injury|E-Cigarette Use-Associated Lung Injury|EVALI|EVALIs|Injuries, Lung|Injuries, Pulmonary|Injury, Lung|Injury, Pulmonary|Lung Injuries|Lung Injuries, Chronic|Lung Injury, Chronic|Pulmonary Injuries|Pulmonary Injury|Vaping Product Use Associated Lung Injury|Vaping Product Use-Associated Lung Injury Respiratory tract disease|Wounds and injuries Lung Neoplasms MESH:D008175 DO:DOID:3683|OMIM:211980|OMIM:608935|OMIM:612052|OMIM:612571|OMIM:612593|OMIM:614210 Tumors or cancer of the LUNG. MESH:D008171|MESH:D012142 C04.588.894.797.520|C08.381.540|C08.785.520 C04.588.894.797|C08.381|C08.785 ADENOCARCINOMA OF LUNG, INCLUDED|ADENOCARCINOMA OF LUNG, SUSCEPTIBILITY TO|ALVEOLAR CELL CARCINOMA, INCLUDED|Cancer, Lung|Cancer of Lung|Cancer of the Lung|Cancer, Pulmonary|Cancers, Lung|Cancers, Pulmonary|LNCR1|LNCR2, INCLUDED|LNCR3|LNCR4|LNCR5|Lung Cancer|LUNG CANCER, PROTECTION AGAINST, INCLUDED|Lung Cancers|LUNG CANCER SUSCEPTIBILITY 1|LUNG CANCER SUSCEPTIBILITY 3|LUNG CANCER SUSCEPTIBILITY 4|LUNG CANCER SUSCEPTIBILITY 5|Lung Neoplasm|Neoplasm, Lung|Neoplasm, Pulmonary|Neoplasms, Lung|Neoplasms, Pulmonary|NICOTINE DEPENDENCE, SUSCEPTIBILITY TO LUNG CANCER SUSCEPTIBILITY 2, INCLUDED|NONSMALL CELL LUNG CANCER, INCLUDED|Pulmonary Cancer|Pulmonary Cancers|Pulmonary Neoplasm|Pulmonary Neoplasms|SMOKING AS A QUANTITATIVE TRAIT LOCUS 3|SQTL3 Cancer|Respiratory tract disease Lupus Erythematosus, Cutaneous MESH:D008178 A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID). MESH:D003240|MESH:D012871 C17.300.475|C17.800.480 C17.300|C17.800 Cutaneous Lupus Erythematosus|Lupus Erythematosus, Cutaneous, Subacute|Lupus Erythematosus, Subacute Cutaneous Connective tissue disease|Skin disease Lupus Erythematosus, Discoid MESH:D008179 A chronic form of cutaneous lupus erythematosus (LUPUS ERYTHEMATOSUS, CUTANEOUS) in which the skin lesions mimic those of the systemic form but in which systemic signs are rare. It is characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy. Lesions are surrounded by an elevated erythematous border. The condition typically involves the face and scalp, but widespread dissemination may occur. MESH:D008178 C17.300.475.479|C17.800.480.479 C17.300.475|C17.800.480 Discoid Lupus Erythematosus|Lupus Erythematosus, Chronic Cutaneous|Lupus Erythematosus, Cutaneous, Chronic Connective tissue disease|Skin disease Lupus Erythematosus, Systemic MESH:D008180 DO:DOID:9074|OMIM:152700|OMIM:300809|OMIM:601744|OMIM:605218|OMIM:605480|OMIM:608437|OMIM:609903|OMIM:609939|OMIM:610065|OMIM:610066|OMIM:610927|OMIM:612251|OMIM:612253|OMIM:612254|OMIM:612378|OMIM:613145|OMIM:614420 A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. MESH:D001327|MESH:D003240 C17.300.480|C20.111.590 C17.300|C20.111 Disease, Libman-Sacks|EXCESS LMW-DNA, INCLUDED|EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA, INCLUDED|Libman Sacks Disease|Libman-Sacks Disease|Lupus Erythematosus Disseminatus|SLE|SLEB1|SLEB10|SLEB11|SLEB12|SLEB13|SLEB14|SLEB15|SLEB16|SLEB2|SLEB3|SLEB4|SLEB5|SLEB6|SLEB7|SLEB8|SLEB9|Systemic Lupus Erythematosus|SYSTEMIC LUPUS ERYTHEMATOSUS 16|SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1, INCLUDED|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 13|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 14|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 15|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 8|SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 Connective tissue disease|Immune system disease Lupus Nephritis MESH:D008181 DO:DOID:0080162 Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982). MESH:D005921|MESH:D008180 C12.050.351.968.419.570.363.680|C12.200.777.419.570.363.680|C12.950.419.570.363.680|C17.300.480.680|C20.111.590.560 C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363|C17.300.480|C20.111.590 Glomerulonephritides, Lupus|Glomerulonephritis, Lupus|Lupus Glomerulonephritides|Lupus Glomerulonephritis|Lupus Nephritides|Nephritides, Lupus|Nephritis, Lupus Connective tissue disease|Immune system disease|Urogenital disease (female)|Urogenital disease (male) Lupus Vasculitis, Central Nervous System MESH:D020945 Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders. MESH:D008180|MESH:D008590|MESH:D020293 C01.207.245.550.500|C01.207.570.450|C10.114.875.850|C10.228.140.300.850.750|C10.228.140.430.550.500|C10.228.228.245.550.500|C10.228.228.570.450|C10.586.250.550.500|C10.586.625.500.500|C14.907.253.946.850|C14.907.940.907.850|C17.300.480.750|C20.111.258.962.900|C20.111.590.750 C01.207.245.550|C01.207.570|C10.114.875|C10.228.140.300.850|C10.228.140.430.550|C10.228.228.245.550|C10.228.228.570|C10.586.250.550|C10.586.625.500|C14.907.253.946|C14.907.940.907|C17.300.480|C20.111.258.962|C20.111.590 Central Nervous System Lupus|Central Nervous System Lupus Vasculitis|Central Nervous System Systemic Lupus Erythematosis|Lupus Meningoencephalitides|Lupus Meningoencephalitis|Meningoencephalitides, Lupus|Meningoencephalitis, Lupus|Neuropsychiatric Systemic Lupus Erythematosus|Systemic Lupus Erythematosis, Central Nervous System Cardiovascular disease|Connective tissue disease|Immune system disease|Nervous system disease Lupus Vulgaris MESH:D008177 A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa. MESH:D014382 C01.150.252.819.820.470|C01.800.720.820.470|C17.800.838.765.820.470 C01.150.252.819.820|C01.800.720.820|C17.800.838.765.820 Bacterial infection or mycosis|Skin disease LUSCAN-LUMISH SYNDROME OMIM:616831 MESH:D001523|MESH:D007805|MESH:D008607|MESH:D058627 C05.660.207.536/616831|C10.500.507.400.249/616831|C10.597.606.150.500.550/616831|C10.597.606.360/616831|C16.131.621.207.532/616831|C16.131.666.507.400.249/616831|C23.888.592.604.150.500.550/616831|C23.888.592.604.646/616831|F03/616831|F03.625.539/616831 C05.660.207.536|C10.500.507.400.249|C10.597.606.150.500.550|C10.597.606.360|C16.131.621.207.532|C16.131.666.507.400.249|C23.888.592.604.150.500.550|C23.888.592.604.646|F03|F03.625.539 LLS Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Lutembacher Syndrome MESH:D008185 DO:DOID:1998 A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS. MESH:D006344 C14.240.400.560.375.518|C14.280.400.560.375.518|C16.131.240.400.560.375.518 C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375 Lutembacher's Syndrome|Lutembachers Syndrome|Syndrome, Lutembacher|Syndrome, Lutembacher's Cardiovascular disease|Congenital abnormality Luteoma MESH:D018311 An ovarian neoplasm composed of LUTEAL CELLS derived from luteinized GRANULOSA CELLS and THECA CELLS. Luteomas respond to GONADOTROPINS, and vary in their hormone production (PROGESTERONE; ESTROGENS; or ANDROGENS). During PREGNANCY, a transient type of luteoma may develop due to an exaggerated LUTEINIZATION of the OVARY. MESH:D010051|MESH:D018312 C04.557.475.750.751|C04.588.322.455.464|C12.050.351.500.056.630.705.464|C12.050.351.937.418.685.464|C12.100.250.056.630.705.464|C12.900.418.685.464|C19.344.410.464|C19.391.630.705.464 C04.557.475.750|C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C19.344.410|C19.391.630.705 Gestational Luteoma|Gestational Luteomas|Luteinoma|Luteoma, Gestational|Luteoma of Pregnancy|Luteoma, Pregnancy|Luteomas|Luteomas, Gestational|Luteomas, Pregnancy|Pregnancy Luteoma|Pregnancy Luteomas Cancer|Endocrine system disease|Urogenital disease (female) Lutz Richner Landolt syndrome MESH:C537726 MESH:D000015|MESH:D002779|MESH:D007565|MESH:D051437 C06.130.120.135/C537726|C12.050.351.968.419.780/C537726|C12.200.777.419.780/C537726|C12.950.419.780/C537726|C16.131.077/C537726|C23.550.429.500/C537726|C23.888.885.375/C537726 C06.130.120.135|C12.050.351.968.419.780|C12.200.777.419.780|C12.950.419.780|C16.131.077|C23.550.429.500|C23.888.885.375 Biliary malformation with renal tubular insufficiency|Cholestatic jaundice and renal tubular insufficiency|Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies Congenital abnormality|Digestive system disease|Pathology (process)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Lyme Disease MESH:D008193 DO:DOID:11729 An infectious disease caused by a spirochete, BORRELIA BURGDORFERI, which is transmitted chiefly by Ixodes dammini (see IXODES) and pacificus ticks in the United States and Ixodes ricinis (see IXODES) in Europe. It is a disease with early and late cutaneous manifestations plus involvement of the nervous system, heart, eye, and joints in variable combinations. The disease was formerly known as Lyme arthritis and first discovered at Old Lyme, Connecticut. MESH:D001899|MESH:D016905|MESH:D017282 C01.150.252.400.536|C01.150.252.400.794.352.250|C01.920.930.513 C01.150.252.400|C01.150.252.400.794.352|C01.920.930 Arthritis, Lyme|B. burgdorferi Infection|B. burgdorferi Infections|Borrelia burgdorferi Infection|Borrelia burgdorferi Infections|Borreliosis, Lyme|Disease, Lyme|Lyme Arthritis|Lyme Borreliosis Bacterial infection or mycosis Lyme Neuroborreliosis MESH:D020852 DO:DOID:11729 Nervous system infections caused by tick-borne spirochetes of the BORRELIA BURGDORFERI GROUP. The disease may affect elements of the central or peripheral nervous system in isolation or in combination. Common clinical manifestations include a lymphocytic meningitis, cranial neuropathy (most often a facial neuropathy), POLYRADICULOPATHY, and a mild loss of memory and other cognitive functions. Less often more extensive inflammation involving the central nervous system (encephalomyelitis) may occur. In the peripheral nervous system, B. burgdorferi infection is associated with mononeuritis multiplex and polyradiculoneuritis. (From J Neurol Sci 1998 Jan 8;153(2):182-91) MESH:D008193|MESH:D020806 C01.150.252.223.437|C01.150.252.400.536.700|C01.150.252.400.794.352.250.700|C01.207.180.437|C01.920.930.513.700|C10.228.228.180.437 C01.150.252.223|C01.150.252.400.536|C01.150.252.400.794.352.250|C01.207.180|C01.920.930.513|C10.228.228.180 Borrelia burgdorferi Neuroborreliosis|Central Nervous System Lyme Disease|Encephalopathies, Lyme Disease|Encephalopathy, Lyme Disease|Lyme Borreliosis, Nervous System|Lyme Disease, Central Nervous System|Lyme Disease Encephalopathies|Lyme Disease Encephalopathy|Lyme Disease Mononeuritis Multiplex|Lyme Disease, Nervous System|Lyme Meningoencephalitis|Lyme Meningoradiculitis|Lyme Polyradiculitides|Lyme Polyradiculitis|Lyme Polyradiculopathies|Lyme Polyradiculopathy|Meningoencephalitis, Lyme|Meningoradiculitis, Lyme|Mononeuritis Multiplex, Lyme Disease|Nervous System Lyme Borreliosis|Nervous System Lyme Disease|Neuroborrelioses, Borrelia burgdorferi|Neuroborreliosis, Borrelia burgdorferi|Neuroborreliosis, Lyme|Peripheral Nervous System Lyme Disease|Polyradiculitides, Lyme|Polyradiculitis, Lyme|Polyradiculopathies, Lyme|Polyradiculopathy, Lyme Bacterial infection or mycosis|Nervous system disease Lymphadenitis MESH:D008199 DO:DOID:1602 Inflammation of the lymph nodes. MESH:D008206 C15.604.315 C15.604 Adenitides|Adenitis|Lymphadenitides Lymphatic disease Lymphadenopathy MESH:D000072281 Disease of LYMPH NODES which are abnormal in size, number or consistency. MESH:D008206 C15.604.338 C15.604 Adenopathies|Adenopathy|Lymphadenopathies Lymphatic disease Lymphangiectasia, pulmonary, congenital MESH:C537727 OMIM:265300 MESH:D008171|MESH:D008200 C08.381/C537727|C15.604.360/C537727 C08.381|C15.604.360 CPL|Lymphangiectasia pulmonary congenital|Lymphangiomatosis, pulmonary|Pulmonary cystic lymphangiectasis Lymphatic disease|Respiratory tract disease Lymphangiectasis MESH:D008200 A transient dilatation of the lymphatic vessels. MESH:D008206 C15.604.360 C15.604 Lymphangiectases Lymphatic disease Lymphangiectasis, Intestinal MESH:D008201 Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by DIARRHEA; HYPOPROTEINEMIA; peripheral and/or abdominal EDEMA; and PROTEIN-LOSING ENTEROPATHIES. MESH:D008200|MESH:D044148 C15.604.360.500|C15.604.451.500|C16.131.482.500 C15.604.360|C15.604.451|C16.131.482 Intestinal Lymphangiectases|Intestinal Lymphangiectasis|Lymphangiectases, Intestinal|Lymphangiectasia, Intestinal Congenital abnormality|Lymphatic disease Lymphangioleiomyomatosis MESH:D018192 OMIM:606690 A disease characterized by the progressive invasion of SMOOTH MUSCLE CELLS into the LYMPHATIC VESSELS, and the BLOOD VESSELS. The majority of the cases occur in the LUNGS of women of child-bearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (DYSPNEA). MESH:D008203|MESH:D054973 C04.557.375.460.465|C04.557.450.692.500|C15.604.515.562.465|C20.683.515.710.465 C04.557.375.460|C04.557.450.692|C15.604.515.562|C20.683.515.710 LAM|Lymphangioleiomyomatoses|Lymphangiomyomatoses|Lymphangiomyomatosis Cancer|Immune system disease|Lymphatic disease Lymphangioma MESH:D008202 DO:DOID:1475 A benign tumor resulting from a congenital malformation of the lymphatic system. Lymphangioendothelioma is a type of lymphangioma in which endothelial cells are the dominant component. MESH:D018190 C04.557.375.450 C04.557.375 Cavernous Lymphangioma|Cavernous Lymphangiomas|Endothelioma, Lymphatic|Endotheliomas, Lymphatic|Lymphangioendothelioma|Lymphangioendotheliomas|Lymphangioma, Cavernous|Lymphangiomas|Lymphangiomas, Cavernous|Lymphatic Endothelioma|Lymphatic Endotheliomas Cancer Lymphangioma, Cystic MESH:D018191 DO:DOID:3081 A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin. MESH:D008202 C04.557.375.450.450 C04.557.375.450 Colli, Cystic Hygroma|Cystic Hygroma|Cystic Hygroma Colli|Cystic Hygromas|Cystic Lymphangioma|Cystic Lymphangiomas|Hygroma|Hygroma Colli, Cystic|Hygroma, Cystic|Hygromas|Hygromas, Cystic|Lymphangiomas, Cystic Cancer Lymphangiomyoma MESH:D008203 A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES. MESH:D008232|MESH:D018190 C04.557.375.460|C15.604.515.562|C20.683.515.710 C04.557.375|C15.604.515|C20.683.515 Lymphangioleiomyoma|Lymphangioleiomyomas|Lymphangiomyomas Cancer|Immune system disease|Lymphatic disease Lymphangiosarcoma MESH:D008204 DO:DOID:2689 A malignant tumor originating from the endothelial cells of lymphatic vessels. Most lymphangiosarcomas arise in an arm secondary to radical mastectomy but they sometimes complicate idiopathic lymphedema. The lymphedema has usually been present for 6 to 10 years before malignant changes develop. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866) MESH:D012509|MESH:D018190 C04.557.375.480|C04.557.450.795.480 C04.557.375|C04.557.450.795 Lymphangioendothelioma, Malignant|Lymphangioendotheliomas, Malignant|Lymphangiosarcomas|Malignant Lymphangioendothelioma|Malignant Lymphangioendotheliomas Cancer Lymphangitis MESH:D008205 DO:DOID:9317 A lymphatic disease characterized by INFLAMMATION of LYMPHATIC VESSELS. MESH:D008206 C15.604.406 C15.604 Lymphangitides Lymphatic disease Lymphatic Abnormalities MESH:D044148 Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels. MESH:D000013|MESH:D008206 C15.604.451|C16.131.482 C15.604|C16.131 Abnormalities, Lymphatic|Abnormality, Lymphatic|Lymphatic Abnormality Congenital abnormality|Lymphatic disease Lymphatic Diseases MESH:D008206 DO:DOID:75 Diseases of LYMPH; LYMPH NODES; or LYMPHATIC VESSELS. MESH:D006425 C15.604 C15 Disease, Lymphatic|Diseases, Lymphatic|Lymphatic Disease|Lymphatism|Status Lymphaticus Lymphatic disease LYMPHATIC MALFORMATION 3 OMIM:613480 DO:DOID:0070208 MESH:D008209 C15.604.496/613480 C15.604.496 LMPH1C, FORMERLY|LMPHM3|LYMPHEDEMA, HEREDITARY, IC, FORMERLY Lymphatic disease LYMPHATIC MALFORMATION 4 OMIM:615907 DO:DOID:0070209 MESH:D008209 C15.604.496/615907 C15.604.496 LMPH1D, FORMERLY|LMPHM4|LYMPHEDEMA, HEREDITARY, ID, FORMERLY Lymphatic disease LYMPHATIC MALFORMATION 6 OMIM:616843 MESH:D008209 C15.604.496/616843 C15.604.496 GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU|LMPH3, FORMERLY|LMPHM6|LYMPHEDEMA, HEREDITARY, III, FORMERLY Lymphatic disease LYMPHATIC MALFORMATION 7 OMIM:617300 DO:DOID:0081030 MESH:D006344|MESH:D008206|MESH:D015160 C12.050.703.277.060.480/617300|C14.240.400.560.375/617300|C14.280.400.560.375/617300|C15.378.295.480/617300|C15.378.420.826.100.350/617300|C15.604/617300|C16.131.240.400.560.375/617300|C16.300.060.480/617300|C16.320.365.826.100.350/617300|C20.306.480/617300|C23.888.277.395/617300 C12.050.703.277.060.480|C14.240.400.560.375|C14.280.400.560.375|C15.378.295.480|C15.378.420.826.100.350|C15.604|C16.131.240.400.560.375|C16.300.060.480|C16.320.365.826.100.350|C20.306.480|C23.888.277.395 CENTRAL CONDUCTION LYMPHATIC ANOMALY|HFASD|HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT|LMPHM7 Blood disease|Cardiovascular disease|Congenital abnormality|Fetal disease|Genetic disease (inborn)|Immune system disease|Lymphatic disease|Pregnancy complication|Signs and symptoms Lymphatic Metastasis MESH:D008207 Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system. MESH:D009362 C04.697.650.560|C23.550.727.650.560 C04.697.650|C23.550.727.650 Lymphatic Metastases|Lymph Node Metastases|Lymph Node Metastasis|Metastasis, Lymph Node Cancer|Pathology (process) Lymphatic Vessel Tumors MESH:D018190 Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels. MESH:D009370 C04.557.375 C04.557 Lymphatic Vessel Tumor|Tumor, Lymphatic Vessel|Tumors, Lymphatic Vessel Cancer Lymphedema MESH:D008209 DO:DOID:0070212|DO:DOID:4977|OMIM:153100 Edema due to obstruction of lymph vessels or disorders of the lymph nodes. MESH:D008206 C15.604.496 C15.604 Congenital Familial Lymphedema|Congenital Hereditary Lymphedema|Congenital Hereditary Lymphedemas|Congenital Lymphedema, Primary|Congenital Lymphedemas, Primary|Early Onset Lymphedema|Early-Onset Lymphedema|Early Onset Lymphedemas|Early-Onset Lymphedemas|Hereditary Lymphedema|Hereditary Lymphedema 1|Hereditary Lymphedema 1s|Hereditary Lymphedema, Congenital|Hereditary Lymphedemas|Hereditary Lymphedemas, Congenital|Hereditary Lymphedema Type I|LMPH1A, FORMERLY|LMPHM1|LYMPHATIC MALFORMATION 1|Lymphedema, Congenital Hereditary|Lymphedema, Early Onset|Lymphedema, Early-Onset|Lymphedema, Hereditary|Lymphedema, Hereditary, Ia|LYMPHEDEMA, HEREDITARY, IA, FORMERLY|LYMPHEDEMA, HEREDITARY, TYPE I, FORMERLY|Lymphedema, Nonne-Milroy|Lymphedema, Primary Congenital|Lymphedemas|Lymphedemas, Congenital Hereditary|Lymphedemas, Early Onset|Lymphedemas, Early-Onset|Lymphedemas, Hereditary|Lymphedemas, Primary Congenital|Milroy Disease|Milroy's Disease|Milroys Disease|Nonne Milroy Disease|Nonne-Milroy Disease|Nonne Milroy Lymphedema|Nonne-Milroy Lymphedema|Nonne Milroy Meige Disease|Nonne-Milroy-Meige Disease|PCL|Primary Congenital Lymphedema|Primary Congenital Lymphedemas Lymphatic disease Lymphedema and Cerebral Arteriovenous Anomaly MESH:C563612 MESH:D002538|MESH:D008209 C10.228.140.300.520/C563612|C10.500.190.500/C563612|C14.240.850.750.295/C563612|C14.240.850.875.500/C563612|C14.907.150.295/C563612|C14.907.253.560.400/C563612|C15.604.496/C563612|C16.131.240.850.750.295/C563612|C16.131.240.850.875.500/C563612|C16.131.666.190.500/C563612 C10.228.140.300.520|C10.500.190.500|C14.240.850.750.295|C14.240.850.875.500|C14.907.150.295|C14.907.253.560.400|C15.604.496|C16.131.240.850.750.295|C16.131.240.850.875.500|C16.131.666.190.500 Cardiovascular disease|Congenital abnormality|Lymphatic disease|Nervous system disease Lymphedema, Cardiac Septal Defects, And Characteristic Facies MESH:C567398 MESH:D000015|MESH:D006344|MESH:D008209|MESH:D019066 C14.240.400.560.375/C567398|C14.280.400.560.375/C567398|C15.604.496/C567398|C16.131.077/C567398|C16.131.240.400.560.375/C567398|C23.550.291.812/C567398 C14.240.400.560.375|C14.280.400.560.375|C15.604.496|C16.131.077|C16.131.240.400.560.375|C23.550.291.812 Irons-Bianchi Syndrome|Lymphedema, Atrial Septal Defect, And Characteristic Facies Cardiovascular disease|Congenital abnormality|Lymphatic disease|Pathology (process) Lymphedema, Congenital Recessive MESH:C565432 MESH:D008209 C15.604.496/C565432 C15.604.496 Lymphatic disease Lymphedema distichiasis syndrome MESH:C537710 DO:DOID:0111509|OMIM:153400 MESH:D008209 C15.604.496/C537710 C15.604.496 Hereditary lymphedema-distichiasis syndrome|LPHDST|Lymphedema-Distichiasis Syndrome|Lymphedema with distichiasis|LYMPHEDEMA WITH DISTICHIASIS LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, INCLUDED Lymphatic disease Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus MESH:C567188 MESH:D003920|MESH:D007674|MESH:D008209 C12.050.351.968.419/C567188|C12.200.777.419/C567188|C12.950.419/C567188|C15.604.496/C567188|C18.452.394.750/C567188|C19.246/C567188 C12.050.351.968.419|C12.200.777.419|C12.950.419|C15.604.496|C18.452.394.750|C19.246 Endocrine system disease|Lymphatic disease|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Lymphedema, Hereditary, IB MESH:C567452 OMIM:611944 MESH:D008209 C15.604.496/C567452 C15.604.496 LMPH1B|LMPH1B, FORMERLY|LMPHM2|LYMPHATIC MALFORMATION 2|LYMPHEDEMA, HEREDITARY, IB, FORMERLY Lymphatic disease Lymphedema, Hereditary, II MESH:C562467 DO:DOID:0070213|OMIM:153200 MESH:D008209 C15.604.496/C562467 C15.604.496 LMPH2, FORMERLY|LMPHM5|LYMPHATIC MALFORMATION 5|LYMPHEDEMA, HEREDITARY, II, FORMERLY|Lymphedema, Late-Onset|Lymphedema Praecox|Meige Disease|Meige Lymphedema Lymphatic disease Lymphedema, microcephaly and chorioretinopathy syndrome MESH:C537711 DO:DOID:0060349 MESH:D008209|MESH:D008831|MESH:D015792|MESH:D019066 C05.660.207.620/C537711|C10.500.507.400.500/C537711|C11.250.666/C537711|C11.270.660/C537711|C11.768.660/C537711|C15.604.496/C537711|C16.131.384.784/C537711|C16.131.621.207.620/C537711|C16.131.666.507.400.500/C537711|C16.320.290.660/C537711|C23.550.291.812/C537711 C05.660.207.620|C10.500.507.400.500|C11.250.666|C11.270.660|C11.768.660|C15.604.496|C16.131.384.784|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.290.660|C23.550.291.812 Chorioretinal dysplasia-microcephaly-mental retardation syndrome|Lymphedema and Retinal Folds with Microcephaly and Microphthalmos|Lymphedema, Microcephaly, Chorioretinopathy Syndrome|Microcephaly lymphedema chorioretinal dysplasia|Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Lymphatic disease|Musculoskeletal disease|Nervous system disease|Pathology (process) Lymphedema of the lower extremities, recurrent pneumonia, bronchiectasis, and yellowed nails MESH:C538678 MESH:D056684 C16.320.962/C538678|C17.800.529.819/C538678|C17.800.621.968/C538678|C23.300.820.500/C538678 C16.320.962|C17.800.529.819|C17.800.621.968|C23.300.820.500 Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA OMIM:614038 MESH:D008209|MESH:D009190 C15.378.190.625/614038|C15.604.496/614038 C15.378.190.625|C15.604.496 EMBERGER SYNDROME Blood disease|Lymphatic disease Lymphoblastic Leukemia, Acute, with Lymphomatous Features MESH:C565429 OMIM:247640 MESH:D054198 C04.557.337.428.600/C565429|C15.604.515.560.600/C565429|C20.683.515.528.600/C565429 C04.557.337.428.600|C15.604.515.560.600|C20.683.515.528.600 LALL|Lymphomatous ALL Cancer|Immune system disease|Lymphatic disease Lymphoblastic Transformation, Inhibition of MESH:C565433 MESH:D007154 C20/C565433 C20 Immune system disease Lymphoblastic Transformation, Intrinsic Defect in MESH:C565431 MESH:D007153 C20.673/C565431 C20.673 Immune system disease Lymphocele MESH:D008210 DO:DOID:4347 Cystic mass containing lymph from diseased lymphatic channels or following surgical trauma or other injury. MESH:D003560|MESH:D008206 C04.182.430|C15.604.510 C04.182|C15.604 Cyst, Lymphatic|Cysts, Lymphatic|Lymphatic Cyst|Lymphatic Cysts|Lymphoceles|Lymphocoele|Lymphocoeles Cancer|Lymphatic disease Lymphocytic Choriomeningitis MESH:D008216 DO:DOID:12155 A form of meningitis caused by LYMPHOCYTIC CHORIOMENINGITIS VIRUS. MICE and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ATAXIA, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal HYDROCEPHALUS, aqueductal stenosis, CHORIORETINITIS, and MICROCEPHALY. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3) MESH:D001117|MESH:D008587 C01.207.245.500.500|C01.925.182.550.500|C01.925.782.082.580|C10.228.228.245.500.500|C10.586.625.400.500 C01.207.245.500|C01.925.182.550|C01.925.782.082|C10.228.228.245.500|C10.586.625.400 Armstrong's Syndrome|Armstrong Syndrome|Choriomeningitis, Lymphocytic|Encephalomyelitis, Lymphocytic Choriomeningitis Virus|Lymphocytic Choriomeningitis Virus Encephalomyelitis|Syndrome, Armstrong|Syndrome, Armstrong's Nervous system disease|Viral disease Lymphocytosis MESH:D008218 Excess of normal lymphocytes in the blood or in any effusion. MESH:D007964 C15.378.553.475.604 C15.378.553.475 Lymphocytoses Blood disease Lymphogranuloma Venereum MESH:D008219 DO:DOID:13819 Subacute inflammation of the inguinal lymph glands caused by certain immunotypes of CHLAMYDIA TRACHOMATIS. It is a sexually transmitted disease in the U.S. but is more widespread in developing countries. It is distinguished from granuloma venereum (see GRANULOMA INGUINALE), which is caused by Calymmatobacterium granulomatis. MESH:D002690 C01.150.252.400.210.125.490|C01.150.252.734.301.490|C01.221.812.281.301.490|C01.778.281.301.490|C12.100.937.281.301.490 C01.150.252.400.210.125|C01.150.252.734.301|C01.221.812.281.301|C01.778.281.301|C12.100.937.281.301 Lymphogranuloma Inguinale Bacterial infection or mycosis Lymphohistiocytosis, Hemophagocytic MESH:D051359 DO:DOID:0050120|OMIM:267700 A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive. MESH:D015616 C15.604.250.410.575 C15.604.250.410 Erythrophagocytic Lymphohistiocytoses, Familial|Erythrophagocytic Lymphohistiocytosis, Familial|Familial Erythrophagocytic Lymphohistiocytoses|Familial Erythrophagocytic Lymphohistiocytosis|Familial Hemophagocytic Histiocytoses|Familial Hemophagocytic Histiocytosis|Familial Hemophagocytic Lymphocytoses|Familial Hemophagocytic Lymphocytosis|Familial Hemophagocytic Lymphohistiocytoses|Familial Hemophagocytic Lymphohistiocytosis|Familial Hemophagocytic Reticuloses|Familial Hemophagocytic Reticulosis|Familial Histiocytic Reticuloses|Familial Histiocytic Reticulosis|FEL|FHL|FHL1|FHLH|Hemophagocytic Histiocytoses, Familial|Hemophagocytic Histiocytosis, Familial|Hemophagocytic Hymphohistiocytoses, Primary|Hemophagocytic Hymphohistiocytosis, Primary|Hemophagocytic Lymphocytoses, Familial|Hemophagocytic Lymphocytosis, Familial|Hemophagocytic Lymphohistiocytoses|Hemophagocytic Lymphohistiocytoses, Familial|Hemophagocytic Lymphohistiocytoses, Primary|Hemophagocytic Lymphohistiocytosis|Hemophagocytic Lymphohistiocytosis, Familial|Hemophagocytic Lymphohistiocytosis Familial -1|Hemophagocytic Lymphohistiocytosis Familial 1|Hemophagocytic Lymphohistiocytosis, Familial, 1|Hemophagocytic Lymphohistiocytosis, Primary|Hemophagocytic Reticuloses, Familial|Hemophagocytic Reticulosis, Familial|Hemophagocytic Syndrome|Hemophagocytic Syndrome, Infection Associated|Hemophagocytic Syndrome, Infection-Associated|Hemophagocytic Syndrome, Reactive|Hemophagocytic Syndromes|Histiocytic Reticuloses, Familial|Histiocytic Reticulosis, Familial|Histiocytoses, Familial Hemophagocytic|Histiocytosis, Familial Hemophagocytic|HLH1|HPLH|HPLH1|Hymphohistiocytoses, Primary Hemophagocytic|Hymphohistiocytosis, Primary Hemophagocytic|Infection-Associated Hemophagocytic Syndrome|Lymphocytoses, Familial Hemophagocytic|Lymphocytosis, Familial Hemophagocytic|Lymphohistiocytoses, Familial Erythrophagocytic|Lymphohistiocytoses, Familial Hemophagocytic|Lymphohistiocytoses, Hemophagocytic|Lymphohistiocytoses, Primary Hemophagocytic|Lymphohistiocytosis, Familial Erythrophagocytic|Lymphohistiocytosis, Familial Hemophagocytic|Lymphohistiocytosis, Primary Hemophagocytic|Primary Hemophagocytic Hymphohistiocytoses|Primary Hemophagocytic Hymphohistiocytosis|Primary Hemophagocytic Lymphohistiocytoses|Primary Hemophagocytic Lymphohistiocytosis|Reactive Hemophagocytic Syndrome|Reticuloses, Familial Hemophagocytic|Reticuloses, Familial Histiocytic|Reticulosis, Familial Hemophagocytic|Reticulosis, Familial Histiocytic Lymphatic disease Lymphoid Interstitial Pneumonia MESH:C562489 DO:DOID:0050159 MESH:D017563 C08.381.483/C562489 C08.381.483 Respiratory tract disease Lymphoid System Deterioration, Progressive MESH:C565430 MESH:D007153 C20.673/C565430 C20.673 Immune system disease Lymphokine Deficiency MESH:C565428 MESH:D007153 C20.673/C565428 C20.673 Immune system disease Lymphoma MESH:D008223 DO:DOID:0060058 A general term for various neoplastic diseases of the lymphoid tissue. MESH:D008232|MESH:D009370 C04.557.386|C15.604.515.569|C20.683.515.761 C04.557|C15.604.515|C20.683.515 Germinoblastic Sarcoma|Germinoblastic Sarcomas|Germinoblastoma|Germinoblastomas|Lymphoma, Malignant|Lymphomas|Lymphomas, Malignant|Malignant Lymphoma|Malignant Lymphomas|Reticulolymphosarcoma|Reticulolymphosarcomas|Sarcoma, Germinoblastic|Sarcomas, Germinoblastic Cancer|Immune system disease|Lymphatic disease Lymphoma, AIDS-Related MESH:D016483 B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation. MESH:D016393 C04.557.386.480.150.450|C15.604.515.569.480.150.450|C20.683.515.761.480.150.450 C04.557.386.480.150|C15.604.515.569.480.150|C20.683.515.761.480.150 AIDS Associated Lymphoma|AIDS-Associated Lymphoma|AIDS-Associated Lymphomas|AIDS Related Lymphoma|AIDS-Related Lymphoma|AIDS-Related Lymphomas|HIV Related Lymphoma|HIV-Related Lymphoma|HIV-Related Lymphomas|Lymphoma, AIDS Associated|Lymphoma, AIDS-Associated|Lymphoma, AIDS Related|Lymphoma, HIV Related|Lymphoma, HIV-Related|Lymphomas, AIDS-Associated|Lymphomas, AIDS-Related|Lymphomas, HIV-Related Cancer|Immune system disease|Lymphatic disease Lymphoma, B-Cell MESH:D016393 DO:DOID:707 A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. MESH:D008228 C04.557.386.480.150|C15.604.515.569.480.150|C20.683.515.761.480.150 C04.557.386.480|C15.604.515.569.480|C20.683.515.761.480 B Cell Lymphoma|B-Cell Lymphoma|B-Cell Lymphomas|Lymphoma, B Cell|Lymphomas, B-Cell Cancer|Immune system disease|Lymphatic disease Lymphoma, B-Cell, Marginal Zone MESH:D018442 DO:DOID:0050748|OMIM:137245 Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (MALT) type as a result of an immunologically mediated disorder. MESH:D016393 C04.557.386.480.150.570|C15.604.515.569.480.150.570|C20.683.515.761.480.150.570 C04.557.386.480.150|C15.604.515.569.480.150|C20.683.515.761.480.150 GASTRIC LYMPHOMA, PRIMARY|Lymphoma, MALT|Lymphoma, Mucosa Associated Lymphoid Tissue|Lymphoma, Mucosa-Associated Lymphoid Tissue|LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE|Lymphoma of Mucosa Associated Lymphoid Tissue|Lymphoma of Mucosa-Associated Lymphoid Tissue|Lymphomas, MALT|MALT Lymphoma|MALT Lymphomas|Marginal Zone B Cell Lymphoma|Marginal Zone B-Cell Lymphoma|Mucosa Associated Lymphoid Tissue Lymphoma|Mucosa-Associated Lymphoid Tissue Lymphoma Cancer|Immune system disease|Lymphatic disease Lymphoma, Extranodal NK-T-Cell MESH:D054391 An extranodal neoplasm, usually possessing an NK-cell phenotype and associated with EPSTEIN-BARR VIRUS. These lymphomas exhibit a broad morphologic spectrum, frequent necrosis, angioinvasion, and most commonly present in the midfacial region, but also in other extranodal sites. MESH:D016399 C04.557.386.480.750.199 C04.557.386.480.750 Extranodal NK T Cell Lymphoma|Extranodal NK-T-Cell Lymphoma|Extranodal NK T Cell Lymphoma, Nasal|Extranodal NK-T-Cell Lymphoma, Nasal|Extranodal NK T Cell Lymphoma, Nasal and Nasal Type|Extranodal NK-T-Cell Lymphoma, Nasal and Nasal-Type|Extranodal NK T Cell Lymphoma, Nasal Type|Extranodal NK-T-Cell Lymphoma, Nasal Type|Extranodal NK-T-Cell Lymphomas|Lymphoma, Extranodal NK T Cell|Lymphomas, Extranodal NK-T-Cell|NK-T-Cell Lymphoma, Extranodal|NK-T-Cell Lymphomas, Extranodal Cancer Lymphoma, Follicular MESH:D008224 DO:DOID:0050873|OMIM:613024 Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES. MESH:D008228 C04.557.386.480.350|C15.604.515.569.480.350|C20.683.515.761.480.350 C04.557.386.480|C15.604.515.569.480|C20.683.515.761.480 Brill Symmers Disease|Brill-Symmers Disease|Disease, Brill-Symmers|FL1|Follicular Large Cell Lymphoma|Follicular Large-Cell Lymphoma|Follicular Large-Cell Lymphomas|Follicular Lymphoma|Follicular Lymphoma, Giant|Follicular Lymphoma, Grade 1|Follicular Lymphoma, Grade 2|Follicular Lymphoma, Grade 3|Follicular Lymphomas|Follicular Lymphomas, Giant|FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1|Follicular Mixed Cell Lymphoma|Follicular Mixed-Cell Lymphoma|Follicular Mixed-Cell Lymphomas|Giant Follicular Lymphoma|Giant Follicular Lymphomas|Histiocytic Lymphoma, Nodular|Histiocytic Lymphomas, Nodular|Large Cell Lymphoma, Follicular|Large-Cell Lymphoma, Follicular|Large-Cell Lymphomas, Follicular|Large Lymphoid Lymphoma, Nodular|Lymphocytic Lymphoma, Nodular, Poorly Differentiated|Lymphocytic Lymphoma, Nodular, Poorly-Differentiated|Lymphoma, Follicular, Grade 1|Lymphoma, Follicular, Grade 2|Lymphoma, Follicular, Grade 3|Lymphoma, Follicular Large Cell|Lymphoma, Follicular Large-Cell|Lymphoma, Follicular Mixed-Cell|Lymphoma, Follicular, Mixed Cell|Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic|Lymphoma, Follicular, Mixed Small and Large Lymphoid|Lymphoma, Follicular, Small and Large Cleaved Cell|Lymphoma, Follicular, Small and Large Cleaved-Cell|Lymphoma, Giant Follicular|Lymphoma, Histiocytic, Nodular|Lymphoma, Large Cell, Follicular|Lymphoma, Large-Cell, Follicular|Lymphoma, Large Lymphoid, Nodular|Lymphoma, Lymphocytic, Nodular, Poorly Differentiated|Lymphoma, Lymphocytic, Nodular, Poorly-Differentiated|Lymphoma, Mixed-Cell, Follicular|Lymphoma, Nodular|Lymphoma, Nodular Histiocytic|Lymphoma, Nodular, Large Follicular Center Cell|Lymphoma, Nodular, Large Follicular Center-Cell|Lymphoma, Nodular, Mixed Lymphocytic Histiocytic|Lymphoma, Nodular, Mixed Lymphocytic-Histiocytic|Lymphoma, Nodular, Mixed Small and Large Cell|Lymphomas, Follicular|Lymphomas, Follicular Large-Cell|Lymphomas, Follicular Mixed-Cell|Lymphomas, Giant Follicular|Lymphoma, Small Cleaved Cell, Follicular|Lymphoma, Small Cleaved-Cell, Follicular|Lymphoma, Small Follicular Center Cell|Lymphoma, Small Follicular Center-Cell|Lymphoma, Small Lymphoid, Follicular|Lymphomas, Nodular|Lymphomas, Nodular Histiocytic|Mixed Cell Lymphoma, Follicular|Mixed-Cell Lymphoma, Follicular|Mixed-Cell Lymphomas, Follicular|Nodular Histiocytic Lymphoma|Nodular Histiocytic Lymphomas|Nodular Large Follicular Center Cell Lymphoma|Nodular Large Follicular Center-Cell Lymphoma|Nodular Lymphoma|Nodular Lymphomas|Small Cleaved Cell Lymphoma, Follicular|Small Cleaved-Cell Lymphoma, Follicular|Small Follicular Center Cell Lymphoma|Small Follicular Center-Cell Lymphoma Cancer|Immune system disease|Lymphatic disease Lymphoma, Large B-Cell, Diffuse MESH:D016403 DO:DOID:0050745 Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation. MESH:D016393 C04.557.386.480.150.585|C15.604.515.569.480.150.585|C20.683.515.761.480.150.585 C04.557.386.480.150|C15.604.515.569.480.150|C20.683.515.761.480.150 Diffuse Histiocytic Lymphoma|Diffuse Histiocytic Lymphomas|Diffuse Large B Cell Lymphoma|Diffuse Large B-Cell Lymphoma|Diffuse, Large B-Cell, Lymphoma|Diffuse Large Cell Lymphoma|Diffuse Large-Cell Lymphoma|Diffuse Large-Cell Lymphomas|Histiocytic Lymphoma|Histiocytic Lymphoma, Diffuse|Histiocytic Lymphomas|Large Cell Lymphoma, Diffuse|Large-Cell Lymphoma, Diffuse|Large Lymphoid Lymphoma, Diffuse|Lymphoma, Diffuse Histiocytic|Lymphoma, Diffuse Large Cell|Lymphoma, Diffuse Large-Cell|Lymphoma, Histiocytic|Lymphoma, Histiocytic, Diffuse|Lymphoma, Large Cell, Diffuse|Lymphoma, Large-Cell, Diffuse|Lymphoma, Large Lymphoid, Diffuse Cancer|Immune system disease|Lymphatic disease Lymphoma, Large-Cell, Anaplastic MESH:D017728 A systemic, large-cell, non-Hodgkin, malignant lymphoma characterized by cells with pleomorphic appearance and expressing the CD30 ANTIGEN. These so-called 'hallmark' cells have lobulated and indented nuclei. This lymphoma is often mistaken for metastatic carcinoma and MALIGNANT HISTIOCYTOSIS. MESH:D016399 C04.557.386.480.750.399|C15.604.515.569.480.750.600|C20.683.515.761.480.750.399 C04.557.386.480.750|C15.604.515.569.480.750|C20.683.515.761.480.750 Anaplastic Large Cell Lymphoma|Anaplastic Large-Cell Lymphoma|Anaplastic Large-Cell Lymphomas|CD30+ Anaplastic Large Cell Lymphoma|CD30+ Anaplastic Large-Cell Lymphoma|CD30 Positive Anaplastic Large Cell Lymphoma|CD30-Positive Anaplastic Large-Cell Lymphoma|Ki 1 Lymphoma|Ki-1 Lymphoma|Ki-1 Lymphomas|Large-Cell Lymphoma, Anaplastic|Large-Cell Lymphomas, Anaplastic|Lymphoma, Anaplastic Large-Cell|Lymphoma, Ki-1|Lymphoma, Large-Cell, Ki-1|Lymphomas, Anaplastic Large-Cell|Lymphomas, Ki-1|Systemic Anaplastic Large Cell Lymphoma|Systemic Anaplastic Large-Cell Lymphoma Cancer|Immune system disease|Lymphatic disease Lymphoma, Large-Cell, Immunoblastic MESH:D016400 Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan. MESH:D008228 C04.557.386.480.493|C15.604.515.569.480.493|C20.683.515.761.480.487 C04.557.386.480|C15.604.515.569.480|C20.683.515.761.480 Diffuse Immunoblastic Lymphosarcoma|Diffuse Immunoblastic Lymphosarcomas|Immunoblastic Large Cell Lymphoma|Immunoblastic Large-Cell Lymphoma|Immunoblastic Large-Cell Lymphomas|Immunoblastic Lymphoma, Large-Cell|Immunoblastic Lymphomas, Large-Cell|Immunoblastic Lymphosarcoma, Diffuse|Immunoblastic Lymphosarcomas, Diffuse|Immunoblastic Sarcoma|Immunoblastic Sarcomas|Immunoblastoma|Immunoblastomas|Large Cell Immunoblastic Lymphoma|Large-Cell Immunoblastic Lymphoma|Large-Cell Immunoblastic Lymphomas|Large-Cell Lymphoma, Immunoblastic|Large-Cell Lymphomas, Immunoblastic|Lymphoma, Immunoblastic Large-Cell|Lymphoma, Immunoblastic, Large Cell|Lymphoma, Immunoblastic, Large-Cell|Lymphoma, Large Cell, Immunoblastic|Lymphoma, Large-Cell Immunoblastic|Lymphomas, Immunoblastic Large-Cell|Lymphomas, Large-Cell Immunoblastic|Lymphosarcoma, Diffuse Immunoblastic|Lymphosarcomas, Diffuse Immunoblastic|Sarcoma, Immunoblastic|Sarcomas, Immunoblastic Cancer|Immune system disease|Lymphatic disease Lymphoma, Mantle-Cell MESH:D020522 DO:DOID:0050746 A form of non-Hodgkin lymphoma having a usually diffuse pattern with both small and medium lymphocytes and small cleaved cells. It accounts for about 5% of adult non-Hodgkin lymphomas in the United States and Europe. The majority of mantle-cell lymphomas are associated with a t(11;14) translocation resulting in overexpression of the CYCLIN D1 gene (GENES, BCL-1). MESH:D008228 C04.557.386.480.525|C15.604.515.569.480.525|C20.683.515.761.480.525 C04.557.386.480|C15.604.515.569.480|C20.683.515.761.480 Centrocytic Small-Cell Lymphoma|Centrocytic Small-Cell Lymphomas|Diffuse Lymphocytic Lymphoma, Poorly Differentiated|Diffuse Lymphocytic Lymphoma, Poorly-Differentiated|Lymphocytic Lymphoma, Diffuse, Poorly Differentiated|Lymphocytic Lymphoma, Diffuse, Poorly-Differentiated|Lymphoma, Centrocytic Small Cell|Lymphoma, Centrocytic Small-Cell|Lymphoma, Lymphocytic, Diffuse, Intermediate Differentiated|Lymphoma, Lymphocytic, Diffuse, Poorly-Differentiated|Lymphoma, Lymphocytic, Intermediate|Lymphoma, Mantle Cell|Lymphoma, Mantle-Zone|Lymphomas, Centrocytic Small-Cell|Lymphoma, Small-Cell, Centrocytic|Lymphomas, Mantle-Cell|Lymphomas, Mantle-Zone|Mantle Cell Lymphoma|Mantle-Cell Lymphoma|Mantle-Cell Lymphomas|Mantle Zone Lymphoma|Mantle-Zone Lymphoma|Mantle-Zone Lymphomas|Small-Cell Lymphoma, Centrocytic|Small-Cell Lymphomas, Centrocytic Cancer|Immune system disease|Lymphatic disease Lymphoma, Non-Hodgkin MESH:D008228 DO:DOID:0060060|DO:DOID:8538|OMIM:605027 Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease. MESH:D008223 C04.557.386.480|C15.604.515.569.480|C20.683.515.761.480 C04.557.386|C15.604.515.569|C20.683.515.761 Diffuse Lymphoma|Diffuse Lymphomas|Diffuse Mixed Cell Lymphoma|Diffuse Mixed-Cell Lymphoma|Diffuse Mixed-Cell Lymphomas|Diffuse Mixed Small and Large Cell Lymphoma|Diffuse Small Cleaved Cell Lymphoma|Diffuse Small Cleaved-Cell Lymphoma|Diffuse Undifferentiated Lymphoma|Diffuse Undifferentiated Lymphomas|High-Grade Lymphoma|High-Grade Lymphomas|Intermediate-Grade Lymphoma|Intermediate-Grade Lymphomas|Low-Grade Lymphoma|Low-Grade Lymphomas|Lymphatic Sarcoma|Lymphatic Sarcomas|Lymphocytic-Histiocytic Lymphoma, Mixed|Lymphocytic-Histiocytic Lymphomas, Mixed|Lymphoma, Atypical Diffuse Small Lymphoid|Lymphoma, Diffuse|Lymphoma, Diffuse Mixed-Cell|Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic|Lymphoma, Diffuse Undifferentiated|Lymphoma, High Grade|Lymphoma, High-Grade|Lymphoma, Intermediate Grade|Lymphoma, Intermediate-Grade|Lymphoma, Low Grade|Lymphoma, Low-Grade|Lymphoma, Mixed|Lymphoma, Mixed Cell|Lymphoma, Mixed-Cell|Lymphoma, Mixed Cell, Diffuse|Lymphoma, Mixed-Cell, Diffuse|Lymphoma, Mixed Lymphocytic Histiocytic|Lymphoma, Mixed Lymphocytic-Histiocytic|Lymphoma, Mixed Small and Large Cell, Diffuse|Lymphoma, Nonhodgkin|Lymphoma, Non Hodgkin|Lymphoma, Non-Hodgkin, Familial|Lymphoma, Nonhodgkin's|Lymphoma, Nonhodgkins|Lymphoma, Non Hodgkin's|Lymphoma, Non Hodgkins|Lymphoma, Non-Hodgkin's|Lymphoma, Non-Hodgkins|Lymphoma, Pleomorphic|Lymphoma, Small and Large Cleaved-Cell, Diffuse|Lymphoma, Small Cleaved Cell, Diffuse|Lymphoma, Small Cleaved-Cell, Diffuse|Lymphoma, Small Noncleaved Cell|Lymphoma, Small Noncleaved-Cell|Lymphoma, Small Non Cleaved Cell|Lymphoma, Small Non-Cleaved-Cell|Lymphoma, Undifferentiated|Lymphoma, Undifferentiated, Diffuse|Lymphosarcoma|Lymphosarcomas|Mixed Cell Lymphoma|Mixed-Cell Lymphoma|Mixed Cell Lymphoma, Diffuse|Mixed-Cell Lymphoma, Diffuse|Mixed-Cell Lymphomas|Mixed Lymphocytic-Histiocytic Lymphoma|Mixed Lymphocytic-Histiocytic Lymphomas|Mixed Lymphoma|Mixed Lymphomas|Mixed Small and Large Cell Lymphoma, Diffuse|NHL|Noncleaved-Cell Lymphoma, Small|Non-Cleaved-Cell Lymphoma, Small|Non Hodgkin Lymphoma|Non-Hodgkin Lymphoma|Nonhodgkin's Lymphoma|Nonhodgkins Lymphoma|Non Hodgkin's Lymphoma|Non-Hodgkin's Lymphoma|Non-Hodgkins Lymphoma|Pleomorphic Lymphoma|Pleomorphic Lymphomas|Reticulosarcoma|Reticulosarcomas|Reticulum Cell Sarcoma|Reticulum-Cell Sarcoma|Reticulum Cell Sarcomas|Reticulum-Cell Sarcomas|Sarcoma, Lymphatic|Sarcoma, Reticulum Cell|Sarcoma, Reticulum-Cell|Small Cleaved Cell Lymphoma, Diffuse|Small Cleaved-Cell Lymphoma, Diffuse|Small Noncleaved Cell Lymphoma|Small Noncleaved-Cell Lymphoma|Small Non Cleaved Cell Lymphoma|Small Non-Cleaved-Cell Lymphoma|Small Noncleaved-Cell Lymphomas|Small Non-Cleaved-Cell Lymphomas|Undifferentiated Lymphoma|Undifferentiated Lymphoma, Diffuse|Undifferentiated Lymphomas Cancer|Immune system disease|Lymphatic disease Lymphoma, Primary Cutaneous Anaplastic Large Cell MESH:D054446 Anaplastic lymphoma of the skin which develops as a primary neoplasm expressing the CD30 ANTIGEN. It is characterized by solitary nodules or ulcerated tumors. MESH:D016410 C04.557.386.480.750.800.507|C15.604.515.569.480.750.800.507|C20.683.515.761.480.750.800.507 C04.557.386.480.750.800|C15.604.515.569.480.750.800|C20.683.515.761.480.750.800 Primary Cutaneous Anaplastic Large Cell Lymphoma|Primary Cutaneous CD30 positive Large T Cell Lymphoma|Primary Cutaneous CD30-positive Large T-Cell Lymphoma Cancer|Immune system disease|Lymphatic disease Lymphoma, Primary Effusion MESH:D054685 A rare neoplasm of large B-cells usually presenting as serious effusions without detectable tumor masses. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. It is associated with HUMAN HERPESVIRUS 8, most often occurring in the setting of immunodeficiency. MESH:D016393 C04.557.386.480.150.592|C15.604.515.569.480.150.592|C20.683.515.761.480.150.592 C04.557.386.480.150|C15.604.515.569.480.150|C20.683.515.761.480.150 Effusion Lymphoma, Primary|Effusion Lymphomas, Primary|Lymphomas, Primary Effusion|Primary Effusion Lymphoma|Primary Effusion Lymphomas Cancer|Immune system disease|Lymphatic disease Lymphoma, T-Cell MESH:D016399 DO:DOID:0081312 A group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes. MESH:D008228 C04.557.386.480.750|C15.604.515.569.480.750|C20.683.515.761.480.750 C04.557.386.480|C15.604.515.569.480|C20.683.515.761.480 Lymphomas, T-Cell|Lymphoma, T Cell|T Cell Lymphoma|T-Cell Lymphoma|T-Cell Lymphomas Cancer|Immune system disease|Lymphatic disease Lymphoma, T-Cell, Cutaneous MESH:D016410 DO:DOID:0060061 A group of lymphomas exhibiting clonal expansion of malignant T-lymphocytes arrested at varying stages of differentiation as well as malignant infiltration of the skin. MYCOSIS FUNGOIDES; SEZARY SYNDROME; LYMPHOMATOID PAPULOSIS; and PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA are the best characterized of these disorders. MESH:D016399 C04.557.386.480.750.800|C15.604.515.569.480.750.800|C20.683.515.761.480.750.800 C04.557.386.480.750|C15.604.515.569.480.750|C20.683.515.761.480.750 Cutaneous T Cell Lymphoma|Cutaneous T-Cell Lymphoma|Cutaneous T-Cell Lymphomas|Granulomatous Slack Skin|Lymphoma, Cutaneous T-Cell|Lymphomas, Cutaneous T-Cell|Lymphoma, T Cell, Cutaneous|Slack Skin, Granulomatous|T Cell Lymphoma, Cutaneous|T-Cell Lymphoma, Cutaneous|T-Cell Lymphomas, Cutaneous Cancer|Immune system disease|Lymphatic disease Lymphoma, T-Cell, Peripheral MESH:D016411 A group of malignant lymphomas thought to derive from peripheral T-lymphocytes in lymph nodes and other nonlymphoid sites. They include a broad spectrum of lymphocyte morphology, but in all instances express T-cell markers admixed with epithelioid histiocytes, plasma cells, and eosinophils. Although markedly similar to large-cell immunoblastic lymphoma (LYMPHOMA, LARGE-CELL, IMMUNOBLASTIC), this group's unique features warrant separate treatment. MESH:D016399 C04.557.386.480.750.825|C15.604.515.569.480.750.825|C20.683.515.761.480.750.825 C04.557.386.480.750|C15.604.515.569.480.750|C20.683.515.761.480.750 Lymphoma, Peripheral T-Cell|Lymphomas, Peripheral T-Cell|Lymphoma, T Cell, Peripheral|Peripheral T Cell Lymphoma|Peripheral T-Cell Lymphoma|Peripheral T-Cell Lymphomas|T Cell Lymphoma, Peripheral|T-Cell Lymphoma, Peripheral|T-Cell Lymphomas, Peripheral Cancer|Immune system disease|Lymphatic disease Lymphomatoid Granulomatosis MESH:D008230 DO:DOID:0081307 An angiocentric and angiodestructive lymphoproliferative disorder primarily involving the lungs. It is caused by an Epstein-Barr virus-induced transformation of the B-cells, in a T-cell rich environment. Clinically and pathologically it resembles EXTRANODAL NK-T-CELL LYMPHOMA. MESH:D011230|MESH:D016393 C04.557.386.480.150.600|C04.834.567|C15.604.515.569.480.150.600|C20.683.515.761.480.150.600 C04.557.386.480.150|C04.834|C15.604.515.569.480.150|C20.683.515.761.480.150 Granulomatoses, Lymphomatoid|Granulomatosis, Lymphomatoid|Lymphomatoid Granulomatoses Cancer|Immune system disease|Lymphatic disease Lymphomatoid Papulosis MESH:D017731 Clinically benign, histologically malignant, recurrent cutaneous T-cell lymphoproliferative disorder characterized by an infiltration of large atypical cells surrounded by inflammatory cells. The atypical cells resemble REED-STERNBERG CELLS of HODGKIN DISEASE or the malignant cells of CUTANEOUS T-CELL LYMPHOMA. In some cases, lymphomatoid papulosis progresses to lymphomatous conditions including MYCOSIS FUNGOIDES; HODGKIN DISEASE; CUTANEOUS T-CELL LYMPHOMA; or ANAPLASTIC LARGE-CELL LYMPHOMA. MESH:D016410 C04.557.386.480.750.800.528|C15.604.515.569.480.750.800.528|C20.683.515.761.480.750.800.528 C04.557.386.480.750.800|C15.604.515.569.480.750.800|C20.683.515.761.480.750.800 Lymphomatoid Papuloses|Papuloses, Lymphomatoid|Papulosis, Lymphomatoid Cancer|Immune system disease|Lymphatic disease Lymphopenia MESH:D008231 DO:DOID:614 Reduction in the number of lymphocytes. MESH:D007153|MESH:D007970 C15.378.553.546.605|C20.673.627 C15.378.553.546|C20.673 Lymphocytopenia|Lymphocytopenias|Lymphopenias Blood disease|Immune system disease Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis MESH:C565427 MESH:D000744|MESH:D005921|MESH:D006942|MESH:D007153 C12.050.351.968.419.570.363/C565427|C12.200.777.419.570.363/C565427|C12.950.419.570.363/C565427|C15.378.071.141.125/C565427|C15.378.147.542/C565427|C20.111.175/C565427|C20.673/C565427|C20.683.460/C565427|C23.888.512/C565427 C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363|C15.378.071.141.125|C15.378.147.542|C20.111.175|C20.673|C20.683.460|C23.888.512 Blood disease|Immune system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Lymphoproliferative Disorders MESH:D008232 OMIM:308240 Disorders characterized by proliferation of lymphoid tissue, general or unspecified. MESH:D007160|MESH:D008206 C15.604.515|C20.683.515 C15.604|C20.683 Disease, Duncan|Diseases, X-Linked Lymphoproliferative|Disease, X-Linked Lymphoproliferative|Disorder, Lymphoproliferative|Disorders, Lymphoproliferative|Disorders, X-Linked Lymphoproliferative|Disorder, X-Linked Lymphoproliferative|Duncan Disease|Duncan's Syndrome|EBV INFECTION, SEVERE, SUSCEPTIBILITY TO|EBVS|Epstein Barr Virus Induced Lymphoproliferative Disease In Males|Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males|Epstein Barr Virus Infection, Familial Fatal|Epstein-Barr Virus Infection, Familial Fatal|Familial Fatal Epstein Barr Infection|Familial Fatal Epstein-Barr Infection|IMD5|Immunodeficiency 5|Immunodeficiency 5s|Immunodeficiency, X Linked Progressive Combined Variable|Immunodeficiency, X-Linked Progressive Combined Variable|INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO|Lymphoproliferative Diseases, X-Linked|Lymphoproliferative Disease, X Linked|Lymphoproliferative Disease, X-Linked|Lymphoproliferative Disorder|Lymphoproliferative Disorders, X-Linked|Lymphoproliferative Disorder, X-Linked|Lymphoproliferative Syndromes, X-Linked|Lymphoproliferative Syndrome, X-Linked|Lymphoproliferative Syndrome, X-Linked, 1|LYP|Purtilo Syndrome|Purtilo Syndromes|Syndrome, Purtilo|Syndromes, Purtilo|Syndromes, X-Linked Lymphoproliferative|Syndrome, X-Linked Lymphoproliferative|X Linked Lymphoproliferative Disease|X-Linked Lymphoproliferative Disease|X-Linked Lymphoproliferative Diseases|X Linked Lymphoproliferative Disorder|X-Linked Lymphoproliferative Disorder|X-Linked Lymphoproliferative Disorders|X Linked Lymphoproliferative Syndrome|X-Linked Lymphoproliferative Syndrome|X-Linked Lymphoproliferative Syndromes|XLP|XLP1|XLPD Immune system disease|Lymphatic disease LYMPHOPROLIFERATIVE SYNDROME 2 OMIM:615122 DO:DOID:0060708 MESH:D008232 C15.604.515/615122|C20.683.515/615122 C15.604.515|C20.683.515 CD27 DEFICIENCY|LPFS2 Immune system disease|Lymphatic disease Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 MESH:C567815 OMIM:613011 MESH:D008232 C15.604.515/C567815|C20.683.515/C567815 C15.604.515|C20.683.515 LPFS1|LYMPHOPROLIFERATIVE SYNDROME 1 Immune system disease|Lymphatic disease Lymphoproliferative Syndrome, X-Linked, 2 MESH:C564469 OMIM:300635 MESH:D008232|MESH:D040181 C15.604.515/C564469|C16.320.322/C564469|C20.683.515/C564469 C15.604.515|C16.320.322|C20.683.515 XIAP Deficiency|XLP2 Genetic disease (inborn)|Immune system disease|Lymphatic disease Lynch Lee Murday syndrome MESH:C537713 MESH:D003456|MESH:D003638|MESH:D008607|MESH:D017880 C05.660.585/C537713|C09.218.458.341.186/C537713|C10.597.606.360/C537713|C10.597.751.418.341.186/C537713|C12.100.500.829.258/C537713|C12.200.294.829.258/C537713|C12.200.706.258/C537713|C12.800.258/C537713|C16.131.621.585/C537713|C16.131.939.258/C537713|C19.391.829.258/C537713|C23.888.592.604.646/C537713|C23.888.592.763.393.341.186/C537713|F03.625.539/C537713 C05.660.585|C09.218.458.341.186|C10.597.606.360|C10.597.751.418.341.186|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C16.131.621.585|C16.131.939.258|C19.391.829.258|C23.888.592.604.646|C23.888.592.763.393.341.186|F03.625.539 Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (male) Lynch Syndrome II MESH:D055847 OMIM:609310 Hereditary nonpolyposis colorectal neoplasms associated with other malignancies, more commonly of ovarian or uterine origin. When also associated with SEBACEOUS GLAND NEOPLASMS, it is called MUIR-TORRE SYNDROME. MESH:D003123 C04.700.250.500|C16.320.700.250.500 C04.700.250|C16.320.700.250 COCA2|Colon Cancer, Familial Nonpolyposis, Type 2|Colorectal Cancer, Hereditary Nonpolyposis, Type 2|FCC2|HNPCC2|LYNCH2|Lynch cancer family syndrome 2|Lynch Cancer Family Syndrome II|LYNCH SYNDROME 2 Cancer|Genetic disease (inborn) Lynch syndrome I (site-specific colonic cancer) MESH:C537261 OMIM:120435 MESH:D003123 C04.588.274.476.411.307.190/C537261|C04.700.250/C537261|C06.301.371.411.307.190/C537261|C06.405.249.411.307.190/C537261|C06.405.469.158.356.190/C537261|C06.405.469.491.307.190/C537261|C16.320.700.250/C537261|C18.452.284.255/C537261 C04.588.274.476.411.307.190|C04.700.250|C06.301.371.411.307.190|C06.405.249.411.307.190|C06.405.469.158.356.190|C06.405.469.491.307.190|C16.320.700.250|C18.452.284.255 COCA1|COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1|COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1|FCC1|HNPCC1|LYNCH1|LYNCH SYNDROME 1|LYNCH SYNDROME I, FORMERLY|LYNCH SYNDROME II, FORMERLY Cancer|Digestive system disease|Genetic disease (inborn)|Metabolic disease Lyngstadaas syndrome MESH:C537490 MESH:D014096|MESH:D043202 C07.650.800.850/C537490|C07.793.700.850/C537490|C16.131.850.800.850/C537490|C16.320.565.925/C537490|C18.452.648.925/C537490 C07.650.800.850|C07.793.700.850|C16.131.850.800.850|C16.320.565.925|C18.452.648.925 Steroid dehydrogenase deficiency dental anomalies Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Mouth disease Lysine Intolerance MESH:C563201 MESH:D020167 C10.228.140.163.100.380/C563201|C16.320.565.100.544/C563201|C16.320.565.189.380/C563201|C18.452.132.100.380/C563201|C18.452.648.100.544/C563201|C18.452.648.189.380/C563201 C10.228.140.163.100.380|C16.320.565.100.544|C16.320.565.189.380|C18.452.132.100.380|C18.452.648.100.544|C18.452.648.189.380 Genetic disease (inborn)|Metabolic disease|Nervous system disease Lysine Malabsorption Syndrome MESH:C563080 MESH:D000592|MESH:D008286 C06.405.469.637/C563080|C16.320.565.100/C563080|C18.452.603/C563080|C18.452.648.100/C563080 C06.405.469.637|C16.320.565.100|C18.452.603|C18.452.648.100 Digestive system disease|Genetic disease (inborn)|Metabolic disease Lysinuric Protein Intolerance MESH:C562687 DO:DOID:0060439|OMIM:222700 MESH:D000592 C16.320.565.100/C562687|C18.452.648.100/C562687 C16.320.565.100|C18.452.648.100 Dibasic Amino Aciduria II|Hyperdibasic Aminoaciduria|LPI|LPI - Lysinuric Protein Intolerance Genetic disease (inborn)|Metabolic disease Lysosomal acid lipase deficiency MESH:C531854 OMIM:278000 MESH:D015223 C16.320.565.398.641.201.500/C531854|C16.320.565.595.201.500/C531854|C16.614.947/C531854|C18.452.584.563.641.201.500/C531854|C18.452.648.398.641.201.500/C531854|C18.452.648.595.201.500/C531854 C16.320.565.398.641.201.500|C16.320.565.595.201.500|C16.614.947|C18.452.584.563.641.201.500|C18.452.648.398.641.201.500|C18.452.648.595.201.500 Acid cholesteryl ester hydrolase deficiency, type 2|Acid lipase disease|CESD|Cholesterol ester hydrolase deficiency|CHOLESTEROL ESTER HYDROLASE DEFICIENCY, PARTIAL|CHOLESTERYL ESTER STORAGE DISEASE|LAL Deficiency|LAL DEFICIENCY, PARTIAL|LIPA deficiency|LIPA DEFICIENCY, PARTIAL|LYSOSOMAL ACID LIPASE DEFICIENCY, PARTIAL Genetic disease (inborn)|Infant-newborn disease|Metabolic disease Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency MESH:C538648 MESH:D016464 C16.320.565.595/C538648|C18.452.648.595/C538648 C16.320.565.595|C18.452.648.595 Genetic disease (inborn)|Metabolic disease Lysosomal Storage Diseases MESH:D016464 DO:DOID:3211 Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. MESH:D008661 C16.320.565.595|C18.452.648.595 C16.320.565|C18.452.648 Disease, Lysosomal Storage|Diseases, Lysosomal Storage|Disorder, Lysosomal Enzyme|Disorders, Lysosomal Enzyme|Enzyme Disorder, Lysosomal|Enzyme Disorders, Lysosomal|Lysosomal Enzyme Disorder|Lysosomal Enzyme Disorders|Lysosomal Storage Disease Genetic disease (inborn)|Metabolic disease Lysosomal Storage Diseases, Nervous System MESH:D020140 A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes. MESH:D016464|MESH:D020739 C10.228.140.163.100.435|C16.320.565.189.435|C16.320.565.595.554|C18.452.132.100.435|C18.452.648.189.435|C18.452.648.595.554 C10.228.140.163.100|C16.320.565.189|C16.320.565.595|C18.452.132.100|C18.452.648.189|C18.452.648.595 Lysosomal Enzyme Disorders, Nervous System|Nervous System Lysosomal Enzyme Disorders|Nervous System Lysosomal Storage Diseases Genetic disease (inborn)|Metabolic disease|Nervous system disease MacDermot Winter syndrome MESH:C537714 MESH:D008831|MESH:D011596 C05.660.207.620/C537714|C10.500.507.400.500/C537714|C10.597.606.881/C537714|C16.131.621.207.620/C537714|C16.131.666.507.400.500/C537714|C23.888.592.604.882/C537714 C05.660.207.620|C10.500.507.400.500|C10.597.606.881|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.604.882 MacDermot-Winter syndrome|Prominent glabella microcephaly hypogenitalism Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms Machado-Joseph Disease MESH:D017827 DO:DOID:1440|OMIM:109150 A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96) MESH:D020754 C10.228.140.252.190.530.530|C10.228.140.252.700.700.500|C10.228.854.787.875.500|C10.574.500.825.700.500|C10.597.350.090.500.530.530|C16.320.400.780.875.500 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 3s, Spinocerebellar Ataxia|Ataxia 3, Spinocerebellar|Ataxia 3s, Spinocerebellar|Atrophy III, Spinocerebellar|Atrophy IIIs, Spinocerebellar|Autosomal Dominant Striatonigral Degeneration|Azorean Ataxia|Azorean Disease|Azorean Disease (Machado Joseph)|Azorean Disease (Machado-Joseph)|Azorean Disease, Nervous System|Azorean Neurologic Disease|Degeneration, Nigrospinodentatal|Degenerations, Nigrospinodentatal|Disease, Azorean|Disease, Azorean (Machado-Joseph)|Disease, Azorean Neurologic|Disease, Joseph|Disease, Joseph Azorean|Disease, Machado-Joseph|Disease, Machado-Joseph Azorean|III, Spinocerebellar Atrophy|Joseph Azorean Disease|Joseph Disease|Machado Joseph Azorean Disease|Machado-Joseph Azorean Disease|Machado Joseph Disease|Machado Joseph Disease Type I|Machado-Joseph Disease Type I|Machado Joseph Disease Type II|Machado-Joseph Disease Type II|Machado Joseph Disease Type III|Machado-Joseph Disease Type III|Machado Joseph Disease Type IV|Machado-Joseph Disease Type IV|MJD|Nervous System Azorean Disease|Neurologic Disease, Azorean|Nigrospinodentatal Degeneration|Nigrospinodentatal Degenerations|SCA3|Spinocerebellar Ataxia 3|Spinocerebellar Ataxia-3|Spinocerebellar Ataxia 3s|Spinocerebellar Ataxia Type 3|Spinocerebellar Atrophy III|Spinocerebellar Atrophy IIIs|Spinocerebellar Atrophy Type 3|SPINOPONTINE ATROPHY|Striatonigral Degeneration, Autosomal Dominant|Type 3 Spinocerebellar Ataxia|Type III Machado Joseph Disease|Type III Machado-Joseph Disease|Type II Machado Joseph Disease|Type II Machado-Joseph Disease|Type I Machado Joseph Disease|Type I Machado-Joseph Disease|Type IV Machado Joseph Disease|Type IV Machado-Joseph Disease Genetic disease (inborn)|Nervous system disease MacKay Shek Carr syndrome MESH:C538364 MESH:D005901|MESH:D012162 C11.270.612/C538364|C11.525.381/C538364|C11.768.585/C538364 C11.270.612|C11.525.381|C11.768.585 Retinal degeneration, nanophthalmos, glaucoma|Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma Eye disease Macleod Fraser syndrome MESH:C537715 MESH:D003286 C05.550.323/C537715|C05.651.197/C537715 C05.550.323|C05.651.197 Musculoskeletal disease Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis MESH:C567770 OMIM:613075 MESH:D000505|MESH:D003483|MESH:D012600|MESH:D058627 C05.116.900.800.875/C567770|C05.660.207.536/C567770|C10.500.507.400.249/C567770|C16.131.621.207.532/C567770|C16.131.666.507.400.249/C567770|C16.320.850.180/C567770|C17.300.230/C567770|C17.800.329.937.122/C567770|C17.800.827.180/C567770|C23.300.035/C567770 C05.116.900.800.875|C05.660.207.536|C10.500.507.400.249|C16.131.621.207.532|C16.131.666.507.400.249|C16.320.850.180|C17.300.230|C17.800.329.937.122|C17.800.827.180|C23.300.035 MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS|MACS Syndrome|TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Skin disease Macrocephaly Autism Syndrome MESH:C565342 DO:DOID:0060867|OMIM:605309 MESH:D001321|MESH:D019066|MESH:D058627 C05.660.207.536/C565342|C10.500.507.400.249/C565342|C16.131.621.207.532/C565342|C16.131.666.507.400.249/C565342|C23.550.291.812/C565342|F03.625.164.113.500/C565342 C05.660.207.536|C10.500.507.400.249|C16.131.621.207.532|C16.131.666.507.400.249|C23.550.291.812|F03.625.164.113.500 MACROCEPHALY/AUTISM SYNDROME Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process) Macrocephaly, benign familial MESH:C537717 MESH:D058627 C05.660.207.536/C537717|C10.500.507.400.249/C537717|C16.131.621.207.532/C537717|C16.131.666.507.400.249/C537717 C05.660.207.536|C10.500.507.400.249|C16.131.621.207.532|C16.131.666.507.400.249 Benign familial macrocephaly|Benign familial megalencephaly|Cole-Hughes syndrome Congenital abnormality|Musculoskeletal disease|Nervous system disease MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION OMIM:617011 MESH:D011596|MESH:D019066|MESH:D058627 C05.660.207.536/617011|C10.500.507.400.249/617011|C10.597.606.881/617011|C16.131.621.207.532/617011|C16.131.666.507.400.249/617011|C23.550.291.812/617011|C23.888.592.604.882/617011 C05.660.207.536|C10.500.507.400.249|C10.597.606.881|C16.131.621.207.532|C16.131.666.507.400.249|C23.550.291.812|C23.888.592.604.882 MDFPMR Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Macrocephaly mesodermal hamartoma spectrum MESH:C537716 MESH:D016715 C04.445.435.500/C537716|C04.651.435.500/C537716|C05.116.099.750/C537716|C05.660.585.620/C537716|C16.131.077.740/C537716|C16.131.621.585.620/C537716 C04.445.435.500|C04.651.435.500|C05.116.099.750|C05.660.585.620|C16.131.077.740|C16.131.621.585.620 Elattoproteus syndrome|Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly|Hemihypertrophy and macrocephaly|Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly Cancer|Congenital abnormality|Musculoskeletal disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies MESH:C564621 OMIM:607131 MESH:D010009|MESH:D019066|MESH:D058627 C05.116.099.708/C564621|C05.660.207.536/C564621|C10.500.507.400.249/C564621|C16.131.621.207.532/C564621|C16.131.666.507.400.249/C564621|C16.320.728/C564621|C23.550.291.812/C564621 C05.116.099.708|C05.660.207.536|C10.500.507.400.249|C16.131.621.207.532|C16.131.666.507.400.249|C16.320.728|C23.550.291.812 AGBK|AL-GAZALI-BAKALINOVA SYNDROME|MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES|MMEDF Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process) Macrocytosis, Familial MESH:C564004 OMIM:600084 MESH:D006402 C15.378/C564004 C15.378 Blood disease Macrodactyly of the foot MESH:C537719 MESH:D005532 C05.330.495/C537719|C05.660.585.512.380/C537719|C16.131.621.585.512.500/C537719 C05.330.495|C05.660.585.512.380|C16.131.621.585.512.500 Megalodactylism of the foot|Megalodactyly of the foot Congenital abnormality|Musculoskeletal disease Macrodactyly of the hand MESH:C537720 MESH:D006228 C05.390.408/C537720|C05.660.585.988.425/C537720|C16.131.621.585.988.500/C537720 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Megalodactylism of the hand|Megalodactyly of the hand Congenital abnormality|Musculoskeletal disease Macroepiphyseal dysplasia, McAlister Coe type MESH:C537721 MESH:D001848|MESH:D010024|MESH:D012871 C05.116.099/C537721|C05.116.198.579/C537721|C17.800/C537721|C18.452.104.579/C537721 C05.116.099|C05.116.198.579|C17.800|C18.452.104.579 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance|McAlister Coe Whyte syndrome Metabolic disease|Musculoskeletal disease|Skin disease Macroglossia MESH:D008260 The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) MESH:D014060 C07.465.910.460 C07.465.910 Macroglossias Mouth disease Macrogyria, pseudobulbar palsy and mental retardation MESH:C537722 MESH:D001927|MESH:D008607|MESH:D020828 C10.228.140/C537722|C10.597.606.360/C537722|C10.597.622.714/C537722|C23.888.592.604.646/C537722|C23.888.592.636.711/C537722|F03.625.539/C537722 C10.228.140|C10.597.606.360|C10.597.622.714|C23.888.592.604.646|C23.888.592.636.711|F03.625.539 Kuzniecky Andermann syndrome Mental disorder|Nervous system disease|Signs and symptoms Macrophage Activation Syndrome MESH:D055501 A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS. MESH:D008232 C20.683.515.800 C20.683.515 Syndrome, Macrophage Activation Immune system disease Macrophagic myofasciitis MESH:C537829 MESH:D005208|MESH:D009220 C05.321/C537829|C05.651.594/C537829|C10.668.491.562/C537829 C05.321|C05.651.594|C10.668.491.562 Macrophagic myofasciitis, childhood Musculoskeletal disease|Nervous system disease Macrophthalmia, Colobomatous, with Microcornea MESH:C566533 OMIM:602499 MESH:D003316|MESH:D005124 C11.204/C566533|C11.250/C566533|C16.131.384/C566533 C11.204|C11.250|C16.131.384 MACOM Congenital abnormality|Eye disease Macrosomia Adiposa Congenita MESH:C565425 MESH:D004700|MESH:D006130 C19/C565425|C23.550.393/C565425 C19|C23.550.393 Endocrine system disease|Pathology (process) Macrosomia obesity macrocephaly ocular abnormalities MESH:C535812 MESH:D000015|MESH:D003103|MESH:D005320|MESH:D008607|MESH:D009765|MESH:D058627 C05.660.207.536/C535812|C10.500.507.400.249/C535812|C10.597.606.360/C535812|C11.250.110/C535812|C11.270.147/C535812|C12.050.703.170.500/C535812|C12.050.703.277.570/C535812|C12.050.703.726.570/C535812|C16.131.077/C535812|C16.131.384.282/C535812|C16.131.621.207.532/C535812|C16.131.666.507.400.249/C535812|C16.300.570/C535812|C18.654.726.750.500/C535812|C19.246.099.968/C535812|C23.888.144.186.500/C535812|C23.888.144.699.500/C535812|C23.888.592.604.646/C535812|F03.625.539/C535812 C05.660.207.536|C10.500.507.400.249|C10.597.606.360|C11.250.110|C11.270.147|C12.050.703.170.500|C12.050.703.277.570|C12.050.703.726.570|C16.131.077|C16.131.384.282|C16.131.621.207.532|C16.131.666.507.400.249|C16.300.570|C18.654.726.750.500|C19.246.099.968|C23.888.144.186.500|C23.888.144.699.500|C23.888.592.604.646|F03.625.539 Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)|Macrosomia, Obesity, Macrocephaly, And Ocular Abnormalities|MOMO syndrome Congenital abnormality|Endocrine system disease|Eye disease|Fetal disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Nutrition disorder|Pregnancy complication|Signs and symptoms Macrosomia with lethal microphthalmia MESH:C537830 MESH:D000015|MESH:D002972|MESH:D005320|MESH:D008850 C05.500.460.185/C537830|C05.660.207.540.460.185/C537830|C07.320.440.185/C537830|C07.465.525.185/C537830|C07.650.500.460.185/C537830|C07.650.525.185/C537830|C11.250.566/C537830|C12.050.703.170.500/C537830|C12.050.703.277.570/C537830|C12.050.703.726.570/C537830|C16.131.077/C537830|C16.131.384.666/C537830|C16.131.621.207.540.460.185/C537830|C16.131.850.500.460.185/C537830|C16.131.850.525.185/C537830|C16.300.570/C537830|C19.246.099.968/C537830|C23.888.144.186.500/C537830 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C11.250.566|C12.050.703.170.500|C12.050.703.277.570|C12.050.703.726.570|C16.131.077|C16.131.384.666|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.300.570|C19.246.099.968|C23.888.144.186.500 Macrosomia microphthalmia cleft palate|Macrosomia with Microphthalmia, Lethal|Teebi Al-Saleh Hassoon syndrome Congenital abnormality|Endocrine system disease|Eye disease|Fetal disease|Mouth disease|Musculoskeletal disease|Pregnancy complication|Signs and symptoms Macrostomia MESH:D008265 OMIM:613545 Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed) MESH:D009056 C07.465.525.480|C07.650.525.480|C16.131.850.525.480 C07.465.525|C07.650.525|C16.131.850.525 COMMISSURAL CLEFT, ISOLATED|LATERAL CLEFT, ISOLATED|MACROSTOMIA, ISOLATED|Macrostomias|TRANSVERSE CLEFT, ISOLATED Congenital abnormality|Mouth disease Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related MESH:C567747 OMIM:613112 MESH:D013921 C15.378.140.855/C567747 C15.378.140.855 MACROTHROMBOCYTOPENIA, ISOLATED, 1, AUTOSOMAL DOMINANT|MACTHC1 Blood disease Macrothrombocytopenia progressive deafness MESH:C537831 MESH:D006319|MESH:D013921 C09.218.458.341.887/C537831|C10.597.751.418.341.887/C537831|C15.378.140.855/C537831|C23.888.592.763.393.341.887/C537831 C09.218.458.341.887|C10.597.751.418.341.887|C15.378.140.855|C23.888.592.763.393.341.887 Brodie Chole Griffin syndrome|Macrothrombocytopenia and Progressive Sensorineural Deafness Blood disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Macrothrombocytopenia, X-Linked MESH:C564526 MESH:D013921|MESH:D040181 C15.378.140.855/C564526|C16.320.322/C564526 C15.378.140.855|C16.320.322 Blood disease|Genetic disease (inborn) Macular Corneal Dystrophy, Type II MESH:C563270 MESH:D003317 C11.204.236/C563270|C11.270.162/C563270|C16.320.290.162/C563270 C11.204.236|C11.270.162|C16.320.290.162 Eye disease|Genetic disease (inborn) Macular Degeneration MESH:D008268 DO:DOID:10871|DO:DOID:4448 Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms. MESH:D012162 C11.768.585.439 C11.768.585 Age Related Macular Degeneration|Age-Related Macular Degeneration|Age-Related Macular Degenerations|Age Related Maculopathies|Age-Related Maculopathies|Age Related Maculopathy|Age-Related Maculopathy|Degeneration, Macular|Dystrophy, Macular|Macular Degeneration, Age Related|Macular Degeneration, Age-Related|Macular Degenerations|Macular Dystrophies|Macular Dystrophy|Maculopathies|Maculopathies, Age-Related|Maculopathy|Maculopathy, Age Related|Maculopathy, Age-Related Eye disease Macular Degeneration, Age-Related, 1 MESH:C566411 OMIM:603075 MESH:D008268 C11.768.585.439/C566411 C11.768.585.439 ARMD1|Maculopathy, Age-Related, 1 Eye disease Macular Degeneration, Age-Related, 10 MESH:C566935 OMIM:611488 MESH:D008268 C11.768.585.439/C566935 C11.768.585.439 ARMD10 Eye disease Macular Degeneration, Age-Related, 11 MESH:C567450 OMIM:611953 MESH:D008268 C11.768.585.439/C567450 C11.768.585.439 ARMD11 Eye disease MACULAR DEGENERATION, AGE-RELATED, 12 OMIM:613784 DO:DOID:0110024 MESH:D008268 C11.768.585.439/613784 C11.768.585.439 ARMD12 Eye disease MACULAR DEGENERATION, AGE-RELATED, 13 OMIM:615439 DO:DOID:0110025 MESH:D008268 C11.768.585.439/615439 C11.768.585.439 ARMD13 Eye disease MACULAR DEGENERATION, AGE-RELATED, 14 OMIM:615489 DO:DOID:0110026 MESH:D008268 C11.768.585.439/615489 C11.768.585.439 ARMD14|MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF, INCLUDED Eye disease MACULAR DEGENERATION, AGE-RELATED, 15 OMIM:615591 DO:DOID:0110027 MESH:D008268 C11.768.585.439/615591 C11.768.585.439 ARMD15 Eye disease Macular Degeneration, Age-Related, 2 MESH:C562479 OMIM:153800 MESH:D008268 C11.768.585.439/C562479 C11.768.585.439 Armd2|Macular Degeneration, Senile|Maculopathy, Age-Related, 2 Eye disease Macular Degeneration, Age-Related, 3 MESH:C563838 OMIM:608895 MESH:D008268 C11.768.585.439/C563838 C11.768.585.439 ARMD3 Eye disease Macular Degeneration, Age-Related, 4 MESH:C565196 OMIM:610698 MESH:D008268 C11.768.585.439/C565196 C11.768.585.439 ARMD4 Eye disease MACULAR DEGENERATION, AGE-RELATED, 5 OMIM:613761 DO:DOID:0110028 MESH:D008268 C11.768.585.439/613761 C11.768.585.439 ARMD5 Eye disease Macular Degeneration, Age-Related, 6 MESH:C563674 OMIM:613757 MESH:D008268 C11.768.585.439/C563674 C11.768.585.439 ARMD6 Eye disease Macular Degeneration, Age-Related, 7 MESH:C565718 OMIM:610149 MESH:D008268 C11.768.585.439/C565718 C11.768.585.439 MACULAR DEGENERATION, AGE-RELATED, 7;ARMD7 MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY|MACULAR DEGENERATION, AGE-RELATED, WET TYPE, SUSCEPTIBILITY TO, INCLUDED|TO, INCLUDED Eye disease MACULAR DEGENERATION, AGE-RELATED, 8 OMIM:613778 DO:DOID:0110020 MESH:D008268 C11.768.585.439/613778 C11.768.585.439 ARMD8 Eye disease Macular Degeneration, Age-Related, 9 MESH:C566958 OMIM:611378 MESH:D008268 C11.768.585.439/C566958 C11.768.585.439 ARMD9 Eye disease MACULAR DEGENERATION, ATROPHIC, X-LINKED OMIM:300834 DO:DOID:0112157 MESH:C564110 C11.270/C564110/300834|C11.768.585.439/C564110/300834|C16.320.290/C564110/300834|C16.320.322/C564110/300834 C11.270/C564110|C11.768.585.439/C564110|C16.320.290/C564110|C16.320.322/C564110 Eye disease|Genetic disease (inborn) MACULAR DEGENERATION, EARLY-ONSET OMIM:616118 MESH:D008268 C11.768.585.439/616118 C11.768.585.439 EOMD Eye disease Macular dystrophy, atypical vitelliform MESH:C537832 OMIM:153840 MESH:D057826 C11.768.585.439.433/C537832|C16.320.290.763/C537832 C11.768.585.439.433|C16.320.290.763 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM|MACULAR DYSTROPHY, VITELLIFORM, 1|Vitelliform macular dystrophy, atypical|VMD1 Eye disease|Genetic disease (inborn) Macular dystrophy, concentric annular MESH:C537833 OMIM:153870 MESH:D008268 C11.768.585.439/C537833 C11.768.585.439 BCAMD, FORMERLY|MACULAR DYSTROPHY, BENIGN CONCENTRIC ANNULAR, FORMERLY|MACULAR DYSTROPHY, CONCENTRIC ANNULAR, FORMERLY|Maculopathy, bull's eye|MCDCA, FORMERLY|RETINITIS PIGMENTOSA 91|RP91 Eye disease Macular dystrophy, corneal type 1 MESH:C537834 OMIM:217800 MESH:D003317 C11.204.236/C537834|C11.270.162/C537834|C16.320.290.162/C537834 C11.204.236|C11.270.162|C16.320.290.162 Corneal dystrophy, macular type|Groenouw type II corneal dystrophy|Macular corneal dystrophy type 1|Macular Corneal Dystrophy, Type I|MACULAR DYSTROPHY, CORNEAL|Macular Dystrophy, Corneal, 1|Mcd|Mcdc1|MCDC1, FORMERLY MACULAR CORNEAL DYSTROPHY, TYPE II, INCLUDED Eye disease|Genetic disease (inborn) Macular Dystrophy, Fenestrated Sheen Type MESH:C563607 MESH:D003317 C11.204.236/C563607|C11.270.162/C563607|C16.320.290.162/C563607 C11.204.236|C11.270.162|C16.320.290.162 Eye disease|Genetic disease (inborn) Macular dystrophy, retinal, 1, North Carolina type MESH:C537835 DO:DOID:0070439|OMIM:136550 MESH:D003317 C11.204.236/C537835|C11.270.162/C537835|C16.320.290.162/C537835 C11.204.236|C11.270.162|C16.320.290.162 CAPED|Central areolar pigment epithelial dystrophy|Foveal dystrophy, progressive|FOVEAL DYSTROPHY, PROGRESSIVE, FORMERLY|MCDR1|NCMD|North carolina macular dystrophy|Retinal pigment epithelial dystrophy, central Eye disease|Genetic disease (inborn) Macular Dystrophy, Retinal, 2 MESH:C562746 OMIM:608051 MESH:D003317 C11.204.236/C562746|C11.270.162/C562746|C16.320.290.162/C562746 C11.204.236|C11.270.162|C16.320.290.162 MCDR2 Eye disease|Genetic disease (inborn) MACULAR DYSTROPHY, RETINAL, 3 OMIM:608850 DO:DOID:0070440 MESH:D008268 C11.768.585.439/608850 C11.768.585.439 MCDR3 Eye disease MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT OMIM:616170 MESH:D008268|MESH:D012174 C11.270.684/616170|C11.768.585.439/616170|C11.768.585.658.500/616170|C16.320.290.684/616170 C11.270.684|C11.768.585.439|C11.768.585.658.500|C16.320.290.684 CCMD Eye disease|Genetic disease (inborn) Macular Dystrophy, X-Linked MESH:C564110 MESH:D008268|MESH:D015785|MESH:D040181 C11.270/C564110|C11.768.585.439/C564110|C16.320.290/C564110|C16.320.322/C564110 C11.270|C11.768.585.439|C16.320.290|C16.320.322 Eye disease|Genetic disease (inborn) Macular Edema MESH:D008269 DO:DOID:4447|DO:DOID:4449|OMIM:153880 Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90) MESH:D008268 C11.768.585.439.245 C11.768.585.439 Central Retinal Edema, Cystoid|CYMD|Cystoid Macular Dystrophy|Cystoid Macular Edema|Cystoid Macular Edema, Postoperative|DCMD|Edema, Cystoid Macular|Edema, Macular|Irvine Gass Syndrome|Irvine-Gass Syndrome|Macular Dystrophy, Dominant Cystoid|Macular Edema, Cystoid|MDDC|Syndrome, Irvine-Gass Eye disease Macules hereditary congenital hypopigmented and hyperpigmented MESH:C537836 MESH:D010859 C17.800.621/C537836|C23.550.755/C537836 C17.800.621|C23.550.755 Congenital hypomelanotic and hypermelanotic macules|Hereditary congenital hypopigmented and hyperpigmented macules|Macules, Hereditary Congenital Hypopigmented and Hyperpigmented|Westerhof Beemer Cormane syndrome Pathology (process)|Skin disease Madelung Deformity MESH:C562398 MESH:D006130|MESH:D010009 C05.116.099.708/C562398|C16.320.728/C562398|C23.550.393/C562398 C05.116.099.708|C16.320.728|C23.550.393 Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Madokoro Ohdo Sonoda syndrome MESH:C537838 MESH:D004476|MESH:D004480 C05.660.585.350/C537838|C16.131.077.350/C537838|C16.131.621.585.350/C537838|C16.131.831.350/C537838|C16.320.850.250/C537838|C17.800.804.350/C537838|C17.800.827.250/C537838 C05.660.585.350|C16.131.077.350|C16.131.621.585.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Magnesium Deficiency MESH:D008275 A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936) MESH:D003677 C18.654.521.500.439 C18.654.521.500 Deficiencies, Magnesium|Deficiency, Magnesium|Magnesium Deficiencies Nutrition disorder Mainzer-Saldino Disease MESH:C535463 MESH:D002524|MESH:D012174 C10.228.140.252.190/C535463|C10.597.350.090.500/C535463|C11.270.684/C535463|C11.768.585.658.500/C535463|C16.320.290.684/C535463|C23.888.592.350.090.200/C535463 C10.228.140.252.190|C10.597.350.090.500|C11.270.684|C11.768.585.658.500|C16.320.290.684|C23.888.592.350.090.200 Conorenal Syndrome|Mainzer-Saldino Syndrome|Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|Saldino-Mainzer disease Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Majeed syndrome MESH:C537839 OMIM:609628 MESH:D000742|MESH:D007153|MESH:D010019 C01.160.495/C537839|C05.116.165.495/C537839|C15.378.071.141.150.095/C537839|C16.320.070.095/C537839|C20.673/C537839 C01.160.495|C05.116.165.495|C15.378.071.141.150.095|C16.320.070.095|C20.673 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 1, WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA, WITH OR WITHOUT NEUTROPHILIC DERMATOSIS|Chronic recurrent multifocal osteomyelitis, congenital|Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis|Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis|CRMO1|Dyserythropoietic anemia, and neutrophilic dermatosis|MJDS Blood disease|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease Major Affective Disorder 1 MESH:C565111 OMIM:125480 MESH:D001714 F03.600.150.500/C565111 F03.600.150.500 BIPOLAR AFFECTIVE DISORDER|BPAD|MAFD1|MANIC-DEPRESSIVE PSYCHOSIS|Manic-Depressive Psychosis, Autosomal|MD1 Mental disorder Major Affective Disorder 2 MESH:C564108 OMIM:309200 MESH:D001714|MESH:D040181 C16.320.322/C564108|F03.600.150.500/C564108 C16.320.322|F03.600.150.500 BIPOLAR AFFECTIVE DISORDER|BPAD|MAFD2|Manic-Depressive Illness|Manic-Depressive Psychosis, X-Linked|MDI|MDX Genetic disease (inborn)|Mental disorder Major Affective Disorder 3 MESH:C566501 OMIM:609633 MESH:D001714 F03.600.150.500/C566501 F03.600.150.500 Bipolar Affective Disorder, Early-Onset|BPEO|MAFD3 Mental disorder Major Affective Disorder 4 MESH:C567073 OMIM:611247 MESH:D001714 F03.600.150.500/C567073 F03.600.150.500 BIPOLAR AFFECTIVE DISORDER|BPAD|MAFD4 Mental disorder Major Affective Disorder 5 MESH:C567074 OMIM:611535 MESH:D001714 F03.600.150.500/C567074 F03.600.150.500 BIPOLAR AFFECTIVE DISORDER|BPAD|MAFD5 Mental disorder Major Affective Disorder 6 MESH:C567075 OMIM:611536 MESH:D001714 F03.600.150.500/C567075 F03.600.150.500 BIPOLAR AFFECTIVE DISORDER|BPAD|MAFD6 Mental disorder Major Affective Disorder 7 MESH:C567529 OMIM:612371 MESH:D001714 F03.600.150.500/C567529 F03.600.150.500 BIPOLAR AFFECTIVE DISORDER|MAFD7 Mental disorder Major Affective Disorder 8 MESH:C567530 OMIM:612357 MESH:D001714 F03.600.150.500/C567530 F03.600.150.500 BIPOLAR AFFECTIVE DISORDER|MAFD8 Mental disorder Major Affective Disorder 9 MESH:C567531 OMIM:612372 MESH:D001714 F03.600.150.500/C567531 F03.600.150.500 BIPOLAR AFFECTIVE DISORDER|MAFD9 Mental disorder Major Depressive Disorder 1 MESH:C563919 OMIM:608520 MESH:D003865 F03.600.300.375/C563919 F03.600.300.375 MDD1|Unipolar Depression 1 Mental disorder Major Depressive Disorder 2 MESH:C563875 OMIM:608691 MESH:D003865 F03.600.300.375/C563875 F03.600.300.375 MDD2|Unipolar Depression 2 Mental disorder Malabsorption Syndromes MESH:D008286 General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients. MESH:D007410|MESH:D008659 C06.405.469.637|C18.452.603 C06.405.469|C18.452 Malabsorption Syndrome|Syndrome, Malabsorption|Syndromes, Malabsorption Digestive system disease|Metabolic disease Malacoplakia MESH:D008287 The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract. MESH:D010335 C23.550.548 C23.550 Malacoplakias|Malakoplakia|Malakoplakias Pathology (process) Malar hypoplasia MESH:C000721289 MESH:D007569 C05.500.460/C000721289|C05.660.207.540.460/C000721289|C07.320.440/C000721289|C07.650.500.460/C000721289|C16.131.621.207.540.460/C000721289|C16.131.850.500.460/C000721289 C05.500.460|C05.660.207.540.460|C07.320.440|C07.650.500.460|C16.131.621.207.540.460|C16.131.850.500.460 Hypoplasia of zygomatic bone|Malar flattening|Malar underdevelopment|Zygomatic flattening|Zygomatic hypoplasia|zygomatic orbital hypoplasia|zygomatic orbital surface hypoplasia Congenital abnormality|Mouth disease|Musculoskeletal disease Malaria MESH:D008288 DO:DOID:12365|OMIM:609148|OMIM:611162 A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia. MESH:D000079426|MESH:D011528 C01.610.752.530|C01.920.875 C01.610.752|C01.920 Fever, Marsh|Fever, Remittent|Infection, Plasmodium|Infections, Plasmodium|MALARIA, CEREBRAL, RESISTANCE TO, INCLUDED|MALARIA, CEREBRAL, SUSCEPTIBILITY TO, INCLUDED|MALARIA, MILD, SUSCEPTIBILITY TO|MALARIA, RESISTANCE TO, INCLUDED|MALARIA, SEVERE, RESISTANCE TO, INCLUDED|MALARIA, SEVERE, SUSCEPTIBILITY TO, INCLUDED|MALARIA, SUSCEPTIBILITY TO|MALS|Marsh Fever|Paludism|Plasmodium Infection|Plasmodium Infections|Remittent Fever Parasitic disease Malaria, Avian MESH:D008289 Any of a group of infections of fowl caused by protozoa of the genera PLASMODIUM, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria. MESH:D001715|MESH:D008288 C01.610.752.530.606|C01.920.875.606|C22.131.498 C01.610.752.530|C01.920.875|C22.131 Avian Malaria|Avian Malarias|Malarias, Avian Animal disease|Parasitic disease Malaria, Cerebral MESH:D016779 DO:DOID:14069 A condition characterized by somnolence or coma in the presence of an acute infection with PLASMODIUM FALCIPARUM (and rarely other Plasmodium species). Initial clinical manifestations include HEADACHES; SEIZURES; and alterations of mentation followed by a rapid progression to COMA. Pathologic features include cerebral capillaries filled with parasitized erythrocytes and multiple small foci of cortical and subcortical necrosis. (From Adams et al., Principles of Neurology, 6th ed, p136) MESH:D008288|MESH:D020808 C01.207.205.300.500|C01.610.105.300.500|C01.610.752.530.620|C01.920.875.620|C10.228.228.205.300.500 C01.207.205.300|C01.610.105.300|C01.610.752.530|C01.920.875|C10.228.228.205.300 Cerebral Malaria|Malaria Meningitis|Meningitis, Malaria Nervous system disease|Parasitic disease Malaria, Falciparum MESH:D016778 DO:DOID:14067 Malaria caused by PLASMODIUM FALCIPARUM. This is the severest form of malaria and is associated with the highest levels of parasites in the blood. This disease is characterized by irregularly recurring febrile paroxysms that in extreme cases occur with acute cerebral, renal, or gastrointestinal manifestations. MESH:D008288 C01.610.752.530.650|C01.920.875.650 C01.610.752.530|C01.920.875 Malaria, Plasmodium falciparum|Plasmodium falciparum Malaria Parasitic disease Malaria, Vivax MESH:D016780 DO:DOID:12978 Malaria caused by PLASMODIUM VIVAX. This form of malaria is less severe than MALARIA, FALCIPARUM, but there is a higher probability for relapses to occur. Febrile paroxysms often occur every other day. MESH:D008288 C01.610.752.530.700|C01.920.875.700 C01.610.752.530|C01.920.875 Malaria, Plasmodium vivax|Plasmodium vivax Malaria|Vivax Malaria Parasitic disease malar prominence MESH:C000721290 MESH:D007569 C05.500.460/C000721290|C05.660.207.540.460/C000721290|C07.320.440/C000721290|C07.650.500.460/C000721290|C16.131.621.207.540.460/C000721290|C16.131.850.500.460/C000721290 C05.500.460|C05.660.207.540.460|C07.320.440|C07.650.500.460|C16.131.621.207.540.460|C16.131.850.500.460 malar hyperplasia|malar hypertrophy Congenital abnormality|Mouth disease|Musculoskeletal disease malar rash MESH:C000721270 MESH:D005076 C17.800.257/C000721270 C17.800.257 butterfly rash|malar butterfly rash Skin disease Mal de debarquement MESH:C537840 MESH:D000076082 C23.888.914/C537840 C23.888.914 Mal de debarquement syndrome Signs and symptoms Male Germ Cell Tumor MESH:C564777 MESH:D009373|MESH:D013736 C04.557.465/C564777|C04.588.322.762/C564777|C04.588.945.440.915/C564777|C12.100.500.260.937/C564777|C12.200.294.260.937/C564777|C12.200.758.409.937/C564777|C12.900.619.937/C564777|C19.344.762/C564777|C19.391.829.782/C564777 C04.557.465|C04.588.322.762|C04.588.945.440.915|C12.100.500.260.937|C12.200.294.260.937|C12.200.758.409.937|C12.900.619.937|C19.344.762|C19.391.829.782 Cancer|Endocrine system disease|Urogenital disease (male) Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa MESH:C562903 DO:DOID:0070183|OMIM:243060 MESH:D007248 C12.100.500.430/C562903|C12.100.750.700/C562903|C12.200.294.430/C562903 C12.100.500.430|C12.100.750.700|C12.200.294.430 Infertility Associated with Multi-Tailed Spermatozoa and Excessive DNA|INFERTILITY ASSOCIATED WITH MULTITAILED SPERMATOZOA AND EXCESSIVE DNA|MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA|SPERMATOGENIC FAILURE 5|SPGF5 Urogenital disease (male) Male pseudohermaphroditism due to defective LH molecule MESH:C535692 MESH:D058490 C12.050.351.875.253.096/C535692|C12.200.706.316.096/C535692|C12.800.316.096/C535692|C16.131.939.316.096/C535692|C19.391.119.096/C535692 C12.050.351.875.253.096|C12.200.706.316.096|C12.800.316.096|C16.131.939.316.096|C19.391.119.096 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase MESH:C564109 OMIM:614279 MESH:D006061 C12.050.351.875.253.096.687/C564109|C12.050.351.875.253.309.388/C564109|C12.200.706.316.096.687/C564109|C12.200.706.316.309.388/C564109|C12.800.316.096.687/C564109|C12.800.316.309.388/C564109|C16.131.939.316.096.687/C564109|C16.131.939.316.309.388/C564109|C19.391.119.096.687/C564109|C19.391.119.309.388/C564109 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 46,XY SEX REVERSAL 8|MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE|SRXY8|TDD Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Male pseudohermaphroditism-mental retardation syndrome, Verloes type MESH:C535693 MESH:D000015|MESH:D008607|MESH:D058490 C10.597.606.360/C535693|C12.050.351.875.253.096/C535693|C12.200.706.316.096/C535693|C12.800.316.096/C535693|C16.131.077/C535693|C16.131.939.316.096/C535693|C19.391.119.096/C535693|C23.888.592.604.646/C535693|F03.625.539/C535693 C10.597.606.360|C12.050.351.875.253.096|C12.200.706.316.096|C12.800.316.096|C16.131.077|C16.131.939.316.096|C19.391.119.096|C23.888.592.604.646|F03.625.539 Verloes syndrome Congenital abnormality|Endocrine system disease|Mental disorder|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Male sterility due to Y-chromosome deletions MESH:C536297 MESH:D002872|MESH:D007248|MESH:D012729|MESH:D058533 C12.050.351.875.253.795/C536297|C12.100.500.430/C536297|C12.100.750.700/C536297|C12.200.294.430/C536297|C12.200.706.316.795/C536297|C12.800.316.795/C536297|C16.131.260.830.835/C536297|C16.131.939.316.795/C536297|C16.320.180.830.835/C536297|C19.391.119.795/C536297|C23.550.210.050.500.500/C536297|C23.550.210.815/C536297 C12.050.351.875.253.795|C12.100.500.430|C12.100.750.700|C12.200.294.430|C12.200.706.316.795|C12.800.316.795|C16.131.260.830.835|C16.131.939.316.795|C16.320.180.830.835|C19.391.119.795|C23.550.210.050.500.500|C23.550.210.815 Partial deletion of chromosome Y|Partial deletion of the long arm of the Y chromosome|Partial deletion of Y|Partial deletion of Y chromosome short arm|Y chromosome deletions|Y chromosome microdeletions|Y-chromosome microdeletions Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Male Urogenital Diseases MESH:D052801 Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). MESH:D000091642 C12.200 C12 Genitourinary Disease, Male|Genitourinary Diseases, Male|Male Genitourinary Disease|Male Genitourinary Diseases|Male Urogenital Disease|Urogenital Disease, Male|Urogenital Diseases, Male Urogenital disease (male) Malformations of Cortical Development MESH:D054220 Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay. MESH:D009421 C10.500.507|C16.131.666.507 C10.500|C16.131.666 Cerebral Cortical Dysplasia|Cerebral Cortical Dysplasias|Cortical Development Malformation|Cortical Development Malformations|Cortical Dysplasia|Cortical Dysplasia, Cerebral|Cortical Dysplasia, Generalized|Cortical Dysplasias|Development Malformation, Cortical|Dysplasia, Cerebral Cortical|Dysplasia, Cortical|Dysplasia, Generalized Cortical|Generalized Cortical Dysplasia|Generalized Cortical Dysplasias|Malformations of Cerebral Cortex Development Congenital abnormality|Nervous system disease Malformations of Cortical Development, Group I MESH:D065703 Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells. MESH:D054220 C10.500.507.400|C16.131.666.507.400 C10.500.507|C16.131.666.507 Abnormal Proliferation Cortical Malformations|Cortical Malformations, Group I|Malformations Due to Abnormal Neuronal and Glial Proliferation or Apoptosis|Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis Congenital abnormality|Nervous system disease Malformations of Cortical Development, Group II MESH:D054081 Cortical malformations secondary to abnormal neuronal CELL MIGRATION in NEUROGENESIS. This group includes COBBLESTONE LISSENCEPHALY and PERIVENTRICULAR NODULAR HETEROTOPIA. MESH:D054220 C10.500.507.450|C16.131.666.507.450 C10.500.507|C16.131.666.507 Cortical Malformations, Group II|Disorder, Neuronal Migration|Disorders, Neuronal Migration|Malformations Due to Abnormal Neuronal Migration|Malformations Secondary to Abnormal Neuronal Migration|Migration Disorder, Neuronal|Migration Disorders, Neuronal|Neuronal Migration Disorder|Neuronal Migration Disorders Congenital abnormality|Nervous system disease Malformations of Cortical Development, Group III MESH:D065704 Cortical malformations secondary to abnormal cortical maturation after CELL MIGRATION in NEUROGENESIS. This group includes injury to the cortex during later stages of cortical development such as POLYMICROGYRIA and focal cortical dysplasias. MESH:D054220 C10.500.507.500|C16.131.666.507.500 C10.500.507|C16.131.666.507 Cortical Malformations, Group III|Malformations Due to Abnormal Postmigrational Development|Malformations Secondary to Abnormal Postmigrational Development Congenital abnormality|Nervous system disease Malignant Atrophic Papulosis MESH:D054853 Variously described as a vasculopathy, endovasculitis, or occlusive arteriopathy, this condition occurs in a benign cutaneous form and a lethal multiorgan systemic variant. It is characterized by a narrowing and occlusion of the lumen of small to medium-sized blood vessels, leading to ischemia and infarction in the involved organ systems. The etiology and pathophysiology are unknown. MESH:D001157|MESH:D014657|MESH:D017445 C14.907.137.520|C14.907.940.530|C17.800.862.457 C14.907.137|C14.907.940|C17.800.862 Atrophic Papuloses, Malignant|Atrophic Papulosis, Malignant|Degos Disease|Degos's Malignant Atrophic Papulosis|Degos Syndrome|Disease, Degos|Disease, Kohlmeier-Degos|Erythrokeratoderma en cocardes|Kohlmeier-Degos Disease|Malignant Atrophic Papuloses|Papuloses, Malignant Atrophic|Papulosis, Malignant Atrophic|Syndrome, Degos Cardiovascular disease|Skin disease Malignant Carcinoid Syndrome MESH:D008303 A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed) MESH:D002276 C04.557.465.625.650.200.500|C04.557.470.200.025.200.500|C04.557.580.625.650.200.500 C04.557.465.625.650.200|C04.557.470.200.025.200|C04.557.580.625.650.200 Carcinoid Syndrome, Malignant|Carcinoid Syndromes, Malignant|Malignant Carcinoid Syndromes|Syndrome, Malignant Carcinoid|Syndromes, Malignant Carcinoid Cancer Malignant Catarrh MESH:D008304 A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte. MESH:D002418|MESH:D006566 C01.925.256.466.606|C22.196.540 C01.925.256.466|C22.196 Catarrhal Fever, Malignant|Catarrhal Fevers, Malignant|Catarrh, Malignant|Catarrhs, Malignant|Fever, Malignant Catarrhal|Fevers, Malignant Catarrhal|Malignant Catarrhal Fever|Malignant Catarrhal Fevers|Malignant Catarrhs Animal disease|Viral disease Malignant fever MESH:C531737 MESH:D008305 C23.550.505.700/C531737|C23.550.767.600/C531737|C23.888.119.455.500/C531737 C23.550.505.700|C23.550.767.600|C23.888.119.455.500 Fulminating hyperpyrexia|Pharmacogenic myopathy Pathology (process)|Signs and symptoms Malignant Hyperthermia MESH:D008305 DO:DOID:8545 Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia. MESH:D000084462|MESH:D007431|MESH:D011183 C23.550.505.700|C23.550.767.600|C23.888.119.455.500 C23.550.505|C23.550.767|C23.888.119.455 Anesthesia Hyperthermia|Anesthesia Related Hyperthermia|Hyperpyrexia, Malignant|Hyperthermia, Anesthesia Related|Hyperthermia, Malignant|Hyperthermia of Anesthesia|Malignant Hyperpyrexia|Malignant Hyperpyrexias Pathology (process)|Signs and symptoms Malignant hyperthermia susceptibility type 1 MESH:C535694 OMIM:145600 MESH:D008305 C23.550.505.700/C535694|C23.550.767.600/C535694|C23.888.119.455.500/C535694 C23.550.505.700|C23.550.767.600|C23.888.119.455.500 HYPERPYREXIA, MALIGNANT|HYPERTHERMIA OF ANESTHESIA|Malignant Hyperthermia, Susceptibility To, 1|MH|MHS|MHS1 Pathology (process)|Signs and symptoms Malignant hyperthermia susceptibility type 2 MESH:C535695 OMIM:154275 MESH:D008305 C23.550.505.700/C535695|C23.550.767.600/C535695|C23.888.119.455.500/C535695 C23.550.505.700|C23.550.767.600|C23.888.119.455.500 Malignant hyperpyrexia susceptibility type 2|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2|MHS2 Pathology (process)|Signs and symptoms Malignant hyperthermia susceptibility type 3 MESH:C535696 OMIM:154276 MESH:D008305 C23.550.505.700/C535696|C23.550.767.600/C535696|C23.888.119.455.500/C535696 C23.550.505.700|C23.550.767.600|C23.888.119.455.500 Malignant hyperpyrexia susceptibility type 3|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3|MHS3 Pathology (process)|Signs and symptoms Malignant hyperthermia susceptibility type 4 MESH:C535697 OMIM:600467 MESH:D008305 C23.550.505.700/C535697|C23.550.767.600/C535697|C23.888.119.455.500/C535697 C23.550.505.700|C23.550.767.600|C23.888.119.455.500 Malignant hyperpyrexia susceptibility type 4|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4|MHS4 Pathology (process)|Signs and symptoms Malignant hyperthermia susceptibility type 5 MESH:C535698 OMIM:601887 MESH:D008305 C23.550.505.700/C535698|C23.550.767.600/C535698|C23.888.119.455.500/C535698 C23.550.505.700|C23.550.767.600|C23.888.119.455.500 Malignant hyperpyrexia susceptibility type 5|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5|MHS5 Pathology (process)|Signs and symptoms Malignant hyperthermia susceptibility type 6 MESH:C535699 OMIM:601888 MESH:D008305 C23.550.505.700/C535699|C23.550.767.600/C535699|C23.888.119.455.500/C535699 C23.550.505.700|C23.550.767.600|C23.888.119.455.500 Malignant hyperpyrexia susceptibility type 6|MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6|MHS6 Pathology (process)|Signs and symptoms Malignant mesenchymal tumor MESH:C535700 DO:DOID:5758 MESH:D008637 C04.557.435.500/C535700 C04.557.435.500 Malignant mesenchymoma Cancer Malignant Teratocarcinosarcoma MESH:C535701 MESH:D002296|MESH:D009669|MESH:D013724 C04.557.435.290/C535701|C04.557.450.795.290/C535701|C04.557.465.910/C535701|C04.588.149.721.600/C535701|C04.588.443.665.650/C535701|C05.116.231.754.600/C535701|C08.460.669/C535701|C08.785.600/C535701|C09.603.669/C535701|C09.647.685/C535701 C04.557.435.290|C04.557.450.795.290|C04.557.465.910|C04.588.149.721.600|C04.588.443.665.650|C05.116.231.754.600|C08.460.669|C08.785.600|C09.603.669|C09.647.685 Paranasal sinus teratocarcinosarcoma|Paranasal sinus teratocarcinosarcoma (type)|Sinonasal teratocarcinosarcoma|Sinonasal teratocarcinosarcoma (type) Cancer|Ear-nose-throat disease|Musculoskeletal disease|Respiratory tract disease Mallory-Weiss Syndrome MESH:D008309 A condition characterized by mucosal tears at the ESOPHAGOGASTRIC JUNCTION, sometimes with HEMATEMESIS. Typically it is caused by forceful bouts of retching or VOMITING. MESH:D004939 C06.405.117.468.524 C06.405.117.468 Gastroesophageal Laceration Hemorrhage|Gastroesophageal Laceration-Hemorrhage|Gastroesophageal Laceration-Hemorrhages|Junction, Mucosal Lacerations-Gastroesophageal|Junctions, Mucosal Lacerations-Gastroesophageal|Laceration-Hemorrhage, Gastroesophageal|Laceration-Hemorrhages, Gastroesophageal|Laceration, Mallory-Weiss|Lacerations-Gastroesophageal Junction, Mucosal|Lacerations-Gastroesophageal Junctions, Mucosal|Mallory Weiss Laceration|Mallory-Weiss Laceration|Mallory Weiss Syndrome|Mallory Weiss Tear|Mallory-Weiss Tear|Mucosal Lacerations Gastroesophageal Junction|Mucosal Lacerations-Gastroesophageal Junction|Mucosal Lacerations-Gastroesophageal Junctions|Syndrome, Mallory-Weiss Digestive system disease Malnutrition MESH:D044342 An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement. MESH:D009748 C18.654.521 C18.654 Malnourishment|Malnourishments|Nutritional Deficiencies|Nutritional Deficiency|Undernutrition Nutrition disorder Malocclusion MESH:D008310 Such malposition and contact of the maxillary and mandibular teeth as to interfere with the highest efficiency during the excursive movements of the jaw that are essential for mastication. (Jablonski, Illustrated Dictionary of Dentistry, 1982) MESH:D014076 C07.793.494 C07.793 Angle Classification|Angle's Classification|Angles Classification|Bite, Cross|Bites, Cross|Classification, Angle's|Crossbite|Cross Bite|Crossbites|Cross Bites|Crowdings, Tooth|Crowding, Tooth|Malocclusions|Tooth Crowding Mouth disease Malocclusion and Short Stature MESH:C565421 MESH:D006130|MESH:D008310|MESH:D019066 C07.793.494/C565421|C23.550.291.812/C565421|C23.550.393/C565421 C07.793.494|C23.550.291.812|C23.550.393 Mouth disease|Pathology (process) Malocclusion, Angle Class I MESH:D008311 Malocclusion in which the mandible and maxilla are anteroposteriorly normal as reflected by the relationship of the first permanent molar (i.e., in neutroclusion), but in which individual teeth are abnormally related to each other. MESH:D008310 C07.793.494.610 C07.793.494 Angle Class I|Class I, Angle Mouth disease Malocclusion, Angle Class II MESH:D008312 Malocclusion in which the mandible is posterior to the maxilla as reflected by the relationship of the first permanent molar (distoclusion). MESH:D008310 C07.793.494.630 C07.793.494 Angle Class II|Angle Class II, Division 1|Angle Class II, Division 2|Class II, Angle|Class II Malocclusion, Division 1|Class II Malocclusion, Division 2|Malocclusion, Angle Class II, Division 1|Malocclusion, Angle Class II, Division 2 Mouth disease Malocclusion, Angle Class III MESH:D008313 Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion). MESH:D008310 C07.793.494.650 C07.793.494 Angle Class III|Habsburg Jaw|Hapsburg Jaw|Prognathism, Mandibular|Underbite Mouth disease Malonic aciduria MESH:C535702 OMIM:248360 MESH:D008661 C16.320.565/C535702|C18.452.648/C535702 C16.320.565|C18.452.648 Malonicaciduria|Malonyl-CoA decarboxylase deficiency|Malonyl-Coenzyme A Decarboxylase Deficiency Genetic disease (inborn)|Metabolic disease Malouf syndrome MESH:C535703 DO:DOID:0111584 MESH:D000083083|MESH:D002311|MESH:D006059|MESH:D007006 C12.050.351.875.253.309/C535703|C12.200.706.316.309/C535703|C12.800.316.309/C535703|C14.280.195.160/C535703|C14.280.238.070/C535703|C16.131.939.316.309/C535703|C16.320.488.750/C535703|C16.320.488/C535703|C19.391.119.309/C535703|C19.391.482/C535703 C12.050.351.875.253.309|C12.200.706.316.309|C12.800.316.309|C14.280.195.160|C14.280.238.070|C16.131.939.316.309|C16.320.488|C16.320.488.750|C19.391.119.309|C19.391.482 Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism|Congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome|Congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Malpuech facial clefting syndrome MESH:C535704 OMIM:248340 MESH:D000015|MESH:D002658|MESH:D006330|MESH:D019465 C05.660.207/C535704|C14.240.400/C535704|C14.280.400/C535704|C16.131.077/C535704|C16.131.240.400/C535704|C16.131.621.207/C535704|F03.625.421/C535704 C05.660.207|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.207|F03.625.421 3MC3|3MC SYNDROME 3|Facial clefting syndrome, Gypsy type|MALPUECH FACIAL CLEFTING SYNDROME, FORMERLY|Malpuech syndrome Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease Mammary Analogue Secretory Carcinoma MESH:D000069295 DO:DOID:0080808 A malignant neoplasm of epithelial cells of the SALIVARY GLANDS, with microcystic architecture, low-grade nuclei, and granular vacuolated cytoplasm. MESH:D002277 C04.557.470.200.588 C04.557.470.200 Cancer MAMMARY-DIGITAL-NAIL SYNDROME OMIM:613689 MESH:D001941|MESH:D005532|MESH:D006228|MESH:D009264 C05.330.495/613689|C05.390.408/613689|C05.660.585.512.380/613689|C05.660.585.988.425/613689|C16.131.621.585.512.500/613689|C16.131.621.585.988.500/613689|C17.800.090/613689|C23.300.820/613689 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500|C17.800.090|C23.300.820 MDNS Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition)|Skin disease Mammary Neoplasms, Animal MESH:D015674 Tumors or cancer of the MAMMARY GLAND in animals (MAMMARY GLANDS, ANIMAL). MESH:D000820|MESH:D009371 C04.588.531|C22.520 C04.588|C22 Animal Mammary Carcinoma|Animal Mammary Carcinomas|Animal Mammary Neoplasm|Animal Mammary Neoplasms|Carcinoma, Animal Mammary|Carcinomas, Animal Mammary|Mammary Carcinoma, Animal|Mammary Carcinomas, Animal|Mammary Neoplasm|Mammary Neoplasm, Animal|Mammary Neoplasms|Neoplasm, Animal Mammary|Neoplasm, Mammary|Neoplasms, Animal Mammary|Neoplasms, Mammary Animal disease|Cancer Mammary Neoplasms, Experimental MESH:D008325 Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS. MESH:D009374|MESH:D015674 C04.588.531.500|C04.619.590 C04.588.531|C04.619 Experimental Mammary Neoplasm|Experimental Mammary Neoplasms|Mammary Neoplasm, Experimental|Neoplasm, Experimental Mammary|Neoplasms, Experimental Mammary Cancer Mandibular Diseases MESH:D008336 Diseases involving the MANDIBLE. MESH:D007571 C05.500.607|C07.320.610 C05.500|C07.320 Disease, Mandibular|Diseases, Mandibular|Mandibular Disease Mouth disease|Musculoskeletal disease Mandibular Fractures MESH:D008337 Fractures of the lower jaw. MESH:D007572 C10.900.300.284.500.400.255|C26.404.750.467.441|C26.915.300.425.500.400.255 C10.900.300.284.500.400|C26.404.750.467|C26.915.300.425.500.400 Fracture, Mandibular|Fractures, Mandibular|Mandibular Fracture Nervous system disease|Wounds and injuries MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME OMIM:615381 MESH:D001848|MESH:D003638|MESH:D008060|MESH:D008336 C05.116.099/615381|C05.500.607/615381|C07.320.610/615381|C09.218.458.341.186/615381|C10.597.751.418.341.186/615381|C17.800.849.391/615381|C18.452.584.625/615381|C18.452.880.391/615381|C23.888.592.763.393.341.186/615381 C05.116.099|C05.500.607|C07.320.610|C09.218.458.341.186|C10.597.751.418.341.186|C17.800.849.391|C18.452.584.625|C18.452.880.391|C23.888.592.763.393.341.186 MDPL Ear-nose-throat disease|Metabolic disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Mandibular Injuries MESH:D008338 Injuries to the lower jaw bone. MESH:D008446 C10.900.300.284.500.500|C26.915.300.425.500.500 C10.900.300.284.500|C26.915.300.425.500 Injuries, Mandibular|Injury, Mandibular|Mandibular Injury Nervous system disease|Wounds and injuries Mandibular Neoplasms MESH:D008339 DO:DOID:2338 Tumors or cancer of the MANDIBLE. MESH:D007573|MESH:D008336 C04.588.149.721.450.583|C05.116.231.754.450.583|C05.500.499.583|C05.500.607.442|C07.320.515.583|C07.320.610.583 C04.588.149.721.450|C05.116.231.754.450|C05.500.499|C05.500.607|C07.320.515|C07.320.610 Mandibular Neoplasm|Neoplasm, Mandibular|Neoplasms, Mandibular Cancer|Mouth disease|Musculoskeletal disease Mandibular Nerve Injuries MESH:D000080902 Traumatic injuries to the MANDIBULAR NERVE and its branches. Note that marginal mandibular nerve injury is a type of FACIAL NERVE INJURIES. Injuries to LINGUAL NERVE branch of mandibular nerve is LINGUAL NERVE INJURIES. MESH:D061221 C07.465.299.625.500.349.750|C10.292.200.875.750|C10.292.319.625.700.349.750|C10.900.300.218.775.750|C26.915.300.400.825.750 C07.465.299.625.500.349|C10.292.200.875|C10.292.319.625.700.349|C10.900.300.218.775|C26.915.300.400.825 Auriculotemporal Nerve Injuries|Auriculotemporal Nerve Injury|Buccal Nerve Injuries|Buccal Nerve Injury|Deep Temporal Nerve Injuries|Inferior Alveolar Nerve Injuries|Injury, Auriculotemporal Nerve|Injury, Buccal Nerve|Injury, Mandibular Nerve|Injury, Masseteric Nerve|Injury, Mental Nerve|Lateral Pterygoid Nerve Injuries|Mandibular Nerve Injury|Masseteric Nerve Injuries|Masseteric Nerve Injury|Mental Nerve Injuries|Mental Nerve Injury|Nerve Injuries, Auriculotemporal|Nerve Injury, Auriculotemporal|Nerve Injury, Buccal|Nerve Injury, Mandibular|Nerve Injury, Masseteric Mouth disease|Nervous system disease|Wounds and injuries Mandibuloacral dysplasia with type A lipodystrophy MESH:C535705 OMIM:248370 MESH:D008060|MESH:D030981 C05.116.099.052/C535705|C05.116.264.579.052/C535705|C17.800.849.391/C535705|C18.452.584.625/C535705|C18.452.880.391/C535705 C05.116.099.052|C05.116.264.579.052|C17.800.849.391|C18.452.584.625|C18.452.880.391 Craniomandibular Dermatodysostosis|CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED|Lipodystrophy, type A, associated with mandibuloacral dysplasia|MADA|Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical Metabolic disease|Musculoskeletal disease|Skin disease Mandibuloacral dysplasia with type B lipodystrophy MESH:C535706 OMIM:608612 MESH:D008060|MESH:D019465 C05.660.207/C535706|C16.131.621.207/C535706|C17.800.849.391/C535706|C18.452.584.625/C535706|C18.452.880.391/C535706 C05.660.207|C16.131.621.207|C17.800.849.391|C18.452.584.625|C18.452.880.391 Lipodystrophy, type B, associated with mandibuloacral dysplasia|MADB Congenital abnormality|Metabolic disease|Musculoskeletal disease|Skin disease Mandibulofacial Dysostosis MESH:D008342 DO:DOID:2908|OMIM:154500 A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) MESH:D003103|MESH:D003394 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C16.131.621.207.231.576 C05.116.099.370.231|C05.660.207.231|C11.270.147|C16.131.621.207.231 Dysostoses, Mandibulofacial|Dysostoses, Mandibulofacial (MFD1)|Dysostosis, Mandibulofacial|Dysostosis, Mandibulofacial (MFD1)|Franceschetti Zwahlen Klein Syndrome|Franceschetti-Zwahlen-Klein Syndrome|Franceschetti-Zwahlen-Klein Syndromes|Mandibulofacial Dysostoses|Mandibulofacial Dysostoses (MFD1)|MANDIBULOFACIAL DYSOSTOSIS|Mandibulofacial Dysostosis (MFD1)|MFD1|Syndrome, Franceschetti-Zwahlen-Klein|Syndromes, Franceschetti-Zwahlen-Klein|Syndromes, Treacher Collins-Franceschetti|Syndrome, Treacher Collins|Syndrome, Treacher Collins-Franceschetti|TCOF|TCS|TCS1|Treacher Collins Franceschetti Syndrome|Treacher Collins-Franceschetti Syndrome|Treacher Collins-Franceschetti Syndromes|Treacher Collins Syndrome|TREACHER COLLINS SYNDROME 1 Congenital abnormality|Eye disease|Musculoskeletal disease MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE OMIM:610536 DO:DOID:0080196 MESH:D002972|MESH:D008342|MESH:D008831 C05.116.099.370.231.576/610536|C05.500.460.185/610536|C05.660.207.231.576/610536|C05.660.207.540.460.185/610536|C05.660.207.620/610536|C07.320.440.185/610536|C07.465.525.185/610536|C07.650.500.460.185/610536|C07.650.525.185/610536|C10.500.507.400.500/610536|C11.270.147.750/610536|C16.131.621.207.231.576/610536|C16.131.621.207.540.460.185/610536|C16.131.621.207.620/610536|C16.131.666.507.400.500/610536|C16.131.850.500.460.185/610536|C16.131.850.525.185/610536 C05.116.099.370.231.576|C05.500.460.185|C05.660.207.231.576|C05.660.207.540.460.185|C05.660.207.620|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.500.507.400.500|C11.270.147.750|C16.131.621.207.231.576|C16.131.621.207.540.460.185|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.850.500.460.185|C16.131.850.525.185 GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY, AND CLEFT PALATE|MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY|MFDGA|MFDM Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease Mandibulofacial Dysostosis Syndrome, Bauru Type MESH:C565744 MESH:D004413|MESH:D019465 C05.116.099.370/C565744|C05.660.207/C565744|C16.131.621.207/C565744 C05.116.099.370|C05.660.207|C16.131.621.207 Congenital abnormality|Musculoskeletal disease Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive MESH:C535707 OMIM:248390 MESH:D008342 C05.116.099.370.231.576/C535707|C05.660.207.231.576/C535707|C11.270.147.750/C535707|C16.131.621.207.231.576/C535707 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C16.131.621.207.231.576 MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE|TCS3|TREACHER COLLINS SYNDROME 3 Congenital abnormality|Eye disease|Musculoskeletal disease MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA OMIM:616367 DO:DOID:0060365 MESH:D000505|MESH:D008342 C05.116.099.370.231.576/616367|C05.660.207.231.576/616367|C11.270.147.750/616367|C16.131.621.207.231.576/616367|C17.800.329.937.122/616367|C23.300.035/616367 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C16.131.621.207.231.576|C17.800.329.937.122|C23.300.035 MFDA Congenital abnormality|Eye disease|Musculoskeletal disease|Pathology (anatomical condition)|Skin disease Mandibulofacial Dysostosis with Macroblepharon and Macrostomia MESH:C566520 MESH:D004413|MESH:D008265|MESH:D019465 C05.116.099.370/C566520|C05.660.207/C566520|C07.465.525.480/C566520|C07.650.525.480/C566520|C16.131.621.207/C566520|C16.131.850.525.480/C566520 C05.116.099.370|C05.660.207|C07.465.525.480|C07.650.525.480|C16.131.621.207|C16.131.850.525.480 Congenital abnormality|Mouth disease|Musculoskeletal disease Mandibulofacial Dysostosis with Mental Deficiency MESH:C565420 MESH:D008342|MESH:D008607 C05.116.099.370.231.576/C565420|C05.660.207.231.576/C565420|C10.597.606.360/C565420|C11.270.147.750/C565420|C16.131.621.207.231.576/C565420|C23.888.592.604.646/C565420|F03.625.539/C565420 C05.116.099.370.231.576|C05.660.207.231.576|C10.597.606.360|C11.270.147.750|C16.131.621.207.231.576|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant MESH:C564267 MESH:D001763|MESH:D008342 C05.116.099.370.231.576/C564267|C05.660.207.231.576/C564267|C11.270.147.750/C564267|C11.338.204/C564267|C16.131.621.207.231.576/C564267 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C11.338.204|C16.131.621.207.231.576 Congenital abnormality|Eye disease|Musculoskeletal disease Manganese Poisoning MESH:D020149 Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213) MESH:D000075322|MESH:D020260 C10.720.475.500|C25.723.522.813 C10.720.475|C25.723.522 Manganese Neurotoxicity Syndrome|Manganese Neurotoxicity Syndromes|Nervous System Diseases, Manganese Induced|Nervous System Diseases, Manganese-Induced|Nervous System Poisoning, Manganese|Neurotoxicity Syndrome, Manganese|Neurotoxicity Syndromes, Manganese|Poisoning, Manganese|Syndrome, Manganese Neurotoxicity|Syndromes, Manganese Neurotoxicity Nervous system disease Mania MESH:D000087122 A state of elevated excitement with over-activity sometimes accompanied with psychotic symptoms (e.g., PSYCHOMOTOR AGITATION, inflated SELF ESTEEM and flight of ideas). It is often associated with mental disorders (e.g., CYCLOTHYMIC DISORDER; and BIPOLAR DISEASES). MESH:D019954 C10.597.606.483|C23.888.592.604.487 C10.597.606|C23.888.592.604 Episode, Manic|Hypomania|Hypomanias|Hypomanic Episode|Hypomanic Episodes|Manias|Manic Episode|Manic Episodes|Manic State Nervous system disease|Signs and symptoms Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type MESH:C563601 MESH:D008661 C16.320.565/C563601|C18.452.648/C563601 C16.320.565|C18.452.648 Phosphodiester Glycoside Deficiency Genetic disease (inborn)|Metabolic disease Mannose-Binding Protein Deficiency MESH:C563602 OMIM:614372 MESH:D008661 C16.320.565/C563602|C18.452.648/C563602 C16.320.565|C18.452.648 LCAPD1|LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1|Mannose-Binding Lectin Deficiency|Mannose-Binding Lectin Protein Deficiency|MANNOSE-BINDING PROTEIN DEFICIENCY|MBL2 Deficiency|MBLD|MBL Deficiency|MBP Deficiency Genetic disease (inborn)|Metabolic disease Mannosidase Deficiency Diseases MESH:D044904 Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme. MESH:D002239|MESH:D016464 C16.320.565.202.607|C16.320.565.595.577|C18.452.648.202.607|C18.452.648.595.577 C16.320.565.202|C16.320.565.595|C18.452.648.202|C18.452.648.595 Deficiency Disease, Mannosidase|Deficiency Diseases, Mannosidase|Deficiency Syndrome, Mannosidase|Deficiency Syndromes, Mannosidase|Diseases, Mannosidase Deficiency|Mannosidase Deficiency Disease|Mannosidase Deficiency Syndrome|Mannosidase Deficiency Syndromes|Mannosidoses|Mannosidosis Genetic disease (inborn)|Metabolic disease Manouvrier syndrome MESH:C535708 MESH:D000015 C16.131.077/C535708 C16.131.077 Lung agenesis heart defect thumb anomalies|Pulmonary aplasia and triphalangia of the thumb Congenital abnormality Mansonelliasis MESH:D008368 DO:DOID:1081 Infection with nematodes of the genus MANSONELLA. Symptoms include pruritus, headache, and articular swelling. MESH:D005368 C01.610.335.508.700.750.361.588 C01.610.335.508.700.750.361 Acanthocheilonema perstans Infection|Acanthocheilonema perstans Infections|Dipetalonema perstans Infection|Dipetalonema perstans Infections|Infection, Acanthocheilonema perstans|Infection, Dipetalonema perstans|Infection, Mansonella perstans|Infections, Acanthocheilonema perstans|Infections, Dipetalonema perstans|Infections, Mansonella perstans|Mansonella perstans Infection|Mansonella perstans Infections|Mansonelliases|Mansonelloses|Mansonellosis|perstans Infection, Acanthocheilonema|perstans Infection, Dipetalonema|perstans Infection, Mansonella|perstans Infections, Acanthocheilonema|perstans Infections, Dipetalonema|perstans Infections, Mansonella Parasitic disease Manz syndrome MESH:C535709 MESH:D008275|MESH:D009397 C12.050.351.968.419.590/C535709|C12.200.777.419.590/C535709|C12.950.419.590/C535709|C18.452.174.130.560/C535709|C18.654.521.500.439/C535709 C12.050.351.968.419.590|C12.200.777.419.590|C12.950.419.590|C18.452.174.130.560|C18.654.521.500.439 Familial hypomagnesemia - hypercalciuria Metabolic disease|Nutrition disorder|Urogenital disease (female)|Urogenital disease (male) Maple Syrup Urine Disease MESH:D008375 DO:DOID:9269|OMIM:248600|OMIM:615135 An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a 'maple syrup' odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936) MESH:D000592|MESH:D020739 C10.228.140.163.100.520|C16.320.565.100.608|C16.320.565.189.520|C18.452.132.100.520|C18.452.648.100.608|C18.452.648.189.520 C10.228.140.163.100|C16.320.565.100|C16.320.565.189|C18.452.132.100|C18.452.648.100|C18.452.648.189 BCKD Deficiency|Branched Chain alpha Keto Acid Dehydrogenase Deficiency|Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency|Branched Chain Ketoaciduria|Branched-Chain Ketoaciduria|Branched-Chain Ketoacidurias|Classical Maple Syrup Urine Disease|Classic Maple Syrup Urine Disease|Intermediate Maple Syrup Urine Disease|Intermittent Maple Syrup Urine Disease|Keto Acid Decarboxylase Deficiency|KETO ACID DECARBOXYLASE DEFICIENCY MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDED|Ketoaciduria, Branched-Chain|Ketoacidurias, Branched-Chain|Maple Syrup Urine Disease, Classic|Maple Syrup Urine Disease, Classical|Maple Syrup Urine Disease, Intermediate|MAPLE SYRUP URINE DISEASE, INTERMEDIATE, INCLUDED|Maple Syrup Urine Disease, Intermittent|MAPLE SYRUP URINE DISEASE, INTERMITTENT, INCLUDED|MAPLE SYRUP URINE DISEASE, MILD VARIANT|Maple Syrup Urine Disease, Thiamine Responsive|Maple Syrup Urine Disease, Thiamine-Responsive|MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, INCLUDED|MAPLE SYRUP URINE DISEASE, TYPE IA, INCLUDED|MAPLE SYRUP URINE DISEASE, TYPE IB, INCLUDED|MAPLE SYRUP URINE DISEASE, TYPE II, INCLUDED|MSUD|MSUD1A, INCLUDED|MSUD1B, INCLUDED|MSUD2, INCLUDED|MSUD (Maple Syrup Urine Disease)|MSUDMV|Thiamine Responsive Maple Syrup Urine Disease Genetic disease (inborn)|Metabolic disease|Nervous system disease Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis MESH:C565412 MESH:D000140|MESH:D008375 C10.228.140.163.100.520/C565412|C16.320.565.100.608/C565412|C16.320.565.189.520/C565412|C18.452.076.176.180/C565412|C18.452.132.100.520/C565412|C18.452.648.100.608/C565412|C18.452.648.189.520/C565412 C10.228.140.163.100.520|C16.320.565.100.608|C16.320.565.189.520|C18.452.076.176.180|C18.452.132.100.520|C18.452.648.100.608|C18.452.648.189.520 Genetic disease (inborn)|Metabolic disease|Nervous system disease Maple syrup urine disease, type 1A MESH:C535710 MESH:D008375 C10.228.140.163.100.520/C535710|C16.320.565.100.608/C535710|C16.320.565.189.520/C535710|C18.452.132.100.520/C535710|C18.452.648.100.608/C535710|C18.452.648.189.520/C535710 C10.228.140.163.100.520|C16.320.565.100.608|C16.320.565.189.520|C18.452.132.100.520|C18.452.648.100.608|C18.452.648.189.520 Maple Syrup Urine Disease, Type IA|MSUD1A Genetic disease (inborn)|Metabolic disease|Nervous system disease Maple syrup urine disease, type 1B MESH:C535711 MESH:D008375 C10.228.140.163.100.520/C535711|C16.320.565.100.608/C535711|C16.320.565.189.520/C535711|C18.452.132.100.520/C535711|C18.452.648.100.608/C535711|C18.452.648.189.520/C535711 C10.228.140.163.100.520|C16.320.565.100.608|C16.320.565.189.520|C18.452.132.100.520|C18.452.648.100.608|C18.452.648.189.520 Maple Syrup Urine Disease, Type IB|MSUD1B Genetic disease (inborn)|Metabolic disease|Nervous system disease Maple syrup urine disease, type 2 MESH:C535712 MESH:D008375 C10.228.140.163.100.520/C535712|C16.320.565.100.608/C535712|C16.320.565.189.520/C535712|C18.452.132.100.520/C535712|C18.452.648.100.608/C535712|C18.452.648.189.520/C535712 C10.228.140.163.100.520|C16.320.565.100.608|C16.320.565.189.520|C18.452.132.100.520|C18.452.648.100.608|C18.452.648.189.520 Maple Syrup Urine Disease, Type II Genetic disease (inborn)|Metabolic disease|Nervous system disease Marburg Virus Disease MESH:D008379 DO:DOID:4327 An RNA virus infection of rhesus, vervet, and squirrel monkeys transmissible to man. MESH:D006482|MESH:D008992|MESH:D018702 C01.925.782.417.560|C01.925.782.580.250.500|C22.735.500.500 C01.925.782.417|C01.925.782.580.250|C22.735.500 Disease, Marburg|Fever, Marburg Hemorrhagic|Hemorrhagic Fever, Marburg|Marburg Disease|Marburg Hemorrhagic Fever Animal disease|Viral disease Marchiafava-Bignami Disease MESH:D054319 A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well. MESH:D001928|MESH:D003711 C10.228.140.163.510|C10.314.475 C10.228.140.163|C10.314 Marchiafava Bignami Disease|Marchiafava Bignami Syndrome|Marchiafava-Bignami Syndrome Nervous system disease Marcus Gunn phenomenon MESH:C535908 DO:DOID:560 MESH:D000093922|MESH:D001763|MESH:D007569|MESH:D012021 C05.500.460/C535908|C05.660.207.540.460/C535908|C07.320.440/C535908|C07.650.500.460/C535908|C10.292.562.700.375/C535908|C10.500.198/C535908|C10.597.704/C535908|C11.338.204/C535908|C11.590.436.400/C535908|C16.131.621.207.540.460/C535908|C16.131.666.198/C535908|C16.131.850.500.460/C535908|C23.888.592.717/C535908 C05.500.460|C05.660.207.540.460|C07.320.440|C07.650.500.460|C10.292.562.700.375|C10.500.198|C10.597.704|C11.338.204|C11.590.436.400|C16.131.621.207.540.460|C16.131.666.198|C16.131.850.500.460|C23.888.592.717 familial Marcus Gunn phenomenon|jaw-winking|Marcus Gunn jaw-winking syndrome|maxillopalpebral synkinesis Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Marden Walker like syndrome MESH:C535909 DO:DOID:0111699|OMIM:600920 MESH:D000015|MESH:D003286|MESH:D016569|MESH:D054119 C05.550.323/C535909|C05.651.197/C535909|C05.660.585.174/C535909|C11.250.090/C535909|C11.338.190/C535909|C16.131.077/C535909|C16.131.384.190/C535909|C16.131.621.585.174/C535909 C05.550.323|C05.651.197|C05.660.585.174|C11.250.090|C11.338.190|C16.131.077|C16.131.384.190|C16.131.621.585.174 Blepharophimosis, arachnodactyly, and congenital contractures|Marden Walker like syndrome without psychomotor retardation|Marden-Walker-Like Syndrome Without Psychomotor Retardation|Van den Ende Gupta syndrome|Van Den Ende-Gupta Syndrome|VDEGS Congenital abnormality|Eye disease|Musculoskeletal disease Marden-Walker syndrome MESH:C535910 OMIM:248700 MESH:D000015|MESH:D003240|MESH:D003286|MESH:D016569|MESH:D054119 C05.550.323/C535910|C05.651.197/C535910|C05.660.585.174/C535910|C11.250.090/C535910|C11.338.190/C535910|C16.131.077/C535910|C16.131.384.190/C535910|C16.131.621.585.174/C535910|C17.300/C535910 C05.550.323|C05.651.197|C05.660.585.174|C11.250.090|C11.338.190|C16.131.077|C16.131.384.190|C16.131.621.585.174|C17.300 Blepharophimosis, micrognathia, immobile facies, kyphoscoliosis, limb contractures, pigeon breast, and arachnodactyly|Connective Tissue Disorder, Marden-Walker Type|Generalized connective tissue syndrome|MWKS|MWS Congenital abnormality|Connective tissue disease|Eye disease|Musculoskeletal disease Marek Disease MESH:D008380 A transmissible viral disease of birds caused by avian herpesvirus 2 (HERPESVIRUS 2, GALLID) and other MARDIVIRUS. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye. MESH:D001715|MESH:D006566|MESH:D008232|MESH:D014412 C01.925.256.466.650|C01.925.928.489|C15.604.515.700|C20.683.515.840|C22.131.546 C01.925.256.466|C01.925.928|C15.604.515|C20.683.515|C22.131 Fowl Paralyses|Fowl Paralysis|Marek's Disease|Mareks Disease|Paralyses, Fowl|Paralysis, Fowl Animal disease|Immune system disease|Lymphatic disease|Viral disease Marfanoid Habitus with Microcephaly and Glomerulonephritis MESH:C565411 MESH:D005921|MESH:D008382|MESH:D008831 C05.116.099.674/C565411|C05.660.207.620/C565411|C10.500.507.400.500/C565411|C12.050.351.968.419.570.363/C565411|C12.200.777.419.570.363/C565411|C12.950.419.570.363/C565411|C14.240.400.725/C565411|C14.280.400.725/C565411|C16.131.077.550/C565411|C16.131.240.400.720/C565411|C16.131.621.207.620/C565411|C16.131.666.507.400.500/C565411|C16.320.540/C565411|C17.300.500/C565411 C05.116.099.674|C05.660.207.620|C10.500.507.400.500|C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363|C14.240.400.725|C14.280.400.725|C16.131.077.550|C16.131.240.400.720|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.540|C17.300.500 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Marfanoid Habitus with Situs Inversus MESH:C563814 MESH:D008382|MESH:D012857 C05.116.099.674/C563814|C14.240.400.725/C563814|C14.280.400.725/C563814|C16.131.077.550/C563814|C16.131.240.400.720/C563814|C16.131.810/C563814|C16.320.540/C563814|C17.300.500/C563814 C05.116.099.674|C14.240.400.725|C14.280.400.725|C16.131.077.550|C16.131.240.400.720|C16.131.810|C16.320.540|C17.300.500 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Marfanoid hypermobility syndrome MESH:C531742 MESH:D008382 C05.116.099.674/C531742|C14.240.400.725/C531742|C14.280.400.725/C531742|C16.131.077.550/C531742|C16.131.240.400.720/C531742|C16.320.540/C531742|C17.300.500/C531742 C05.116.099.674|C14.240.400.725|C14.280.400.725|C16.131.077.550|C16.131.240.400.720|C16.320.540|C17.300.500 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Marfanoid Mental Retardation Syndrome, Autosomal MESH:C565410 MESH:D008382|MESH:D008607|MESH:D019066 C05.116.099.674/C565410|C10.597.606.360/C565410|C14.240.400.725/C565410|C14.280.400.725/C565410|C16.131.077.550/C565410|C16.131.240.400.720/C565410|C16.320.540/C565410|C17.300.500/C565410|C23.550.291.812/C565410|C23.888.592.604.646/C565410|F03.625.539/C565410 C05.116.099.674|C10.597.606.360|C14.240.400.725|C14.280.400.725|C16.131.077.550|C16.131.240.400.720|C16.320.540|C17.300.500|C23.550.291.812|C23.888.592.604.646|F03.625.539 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME OMIM:616914 MESH:D008060|MESH:D008382 C05.116.099.674/616914|C14.240.400.725/616914|C14.280.400.725/616914|C16.131.077.550/616914|C16.131.240.400.720/616914|C16.320.540/616914|C17.300.500/616914|C17.800.849.391/616914|C18.452.584.625/616914|C18.452.880.391/616914 C05.116.099.674|C14.240.400.725|C14.280.400.725|C16.131.077.550|C16.131.240.400.720|C16.320.540|C17.300.500|C17.800.849.391|C18.452.584.625|C18.452.880.391 MARFAN LIPODYSTROPHY SYNDROME|MARFANOID-PROGEROID SYNDROME|MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME|MFLS Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Skin disease Marfan Syndrome MESH:D008382 DO:DOID:14323|OMIM:154700 An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. MESH:D000015|MESH:D001848|MESH:D003240|MESH:D006330|MESH:D030342 C05.116.099.674|C14.240.400.725|C14.280.400.725|C16.131.077.550|C16.131.240.400.720|C16.320.540|C17.300.500 C05.116.099|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.320|C17.300 Marfan Like Connective Tissue Disorder|Marfan's Syndrome|Marfans Syndrome|Marfan Syndrome Type 1|Marfan Syndrome Type 2|Marfan Syndrome, Type I|Marfan Syndrome, Type II|MFS|MFS1 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Margins of Excision MESH:D000072662 The edges of tissue removed in a surgery for assessment of the effectiveness of a surgical procedure in achieving the local control of a neoplasm and the adequacy of tumor removal. When the margin is negative or not involved by tumor (e.g., CANCER) it suggests all of the tumor has been removed by the surgery. MESH:D065308 C23.149.625 C23.149 Excision Margin|Excision Margins|Margin, Resection|Margins, Resection|Margins, Surgical|Margins, Tumor-Free|Margin, Surgical|Margin, Tumor-Free|Negative Surgical Margin|Negative Surgical Margins|Positive Surgical Margin|Positive Surgical Margins|Resection Margin|Resection Margins|Surgical Margin|Surgical Margin, Negative|Surgical Margin, Positive|Surgical Margins|Surgical Margins, Negative|Surgical Margins, Positive|Tumor-Free Margin|Tumor Free Margins|Tumor-Free Margins Marie Unna congenital hypotrichosis MESH:C535912 OMIM:146550 MESH:D007039 C17.800.329.937/C535912 C17.800.329.937 HYPOTRICHOSIS 4|Hypotrichosis, Marie Unna type|HYPOTRICHOSIS, MARIE UNNA TYPE, 1|HYPT4|Marie Unna hereditary hypotrichosis|MARIE UNNA HEREDITARY HYPOTRICHOSIS 1|MUHH1 Skin disease Marie Unna Hereditary Hypotrichosis 1 MESH:C567718 MESH:D007039 C17.800.329.937/C567718 C17.800.329.937 Hypotrichosis 4|Hypotrichosis, Marie Unna Type, 1 Skin disease Marijuana Abuse MESH:D002189 DO:DOID:1849|DO:DOID:9505 Use of marijuana associated with abnormal psychological, social, and or occupational functioning. MESH:D019966 C25.775.635|F03.900.635 C25.775|F03.900 Abuse, Cannabis|Abuse, Hashish|Abuse, Marihuana|Abuse, Marijuana|Cannabis Abuse|Cannabis Dependence|Cannabis Related Disorder|Cannabis-Related Disorder|Dependence, Cannabis|Dependence, Marijuana|Disorder, Cannabis-Related|Hashish Abuse|Marihuana Abuse|Marijuana Dependence Mental disorder|Substance-related disorder Marijuana Use MESH:D000074609 Medicinal or recreational utilization of MARIJUANA. MESH:D019966 F03.900.643 F03.900 Disorder, Marijuana-Related|Disorders, Marijuana-Related|Marijuana Related Disorder|Marijuana-Related Disorder|Marijuana-Related Disorders|Marijuana Use, Recreational|Marijuana Uses|Marijuana Uses, Recreational|Recreational Marijuana Use|Recreational Marijuana Uses|Use, Marijuana|Use, Recreational Marijuana|Uses, Marijuana|Uses, Recreational Marijuana Mental disorder|Substance-related disorder Marinesco-Sjogren-like syndrome (MSLS) MESH:C535913 MESH:D002386|MESH:D002524|MESH:D008607|MESH:D009135 C05.651/C535913|C10.228.140.252.190/C535913|C10.597.350.090.500/C535913|C10.597.606.360/C535913|C10.668.491/C535913|C11.510.245/C535913|C23.888.592.350.090.200/C535913|C23.888.592.604.646/C535913|F03.625.539/C535913 C05.651|C10.228.140.252.190|C10.597.350.090.500|C10.597.606.360|C10.668.491|C11.510.245|C23.888.592.350.090.200|C23.888.592.604.646|F03.625.539 Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Marles Greenberg Persaud syndrome MESH:C536022 OMIM:248450 MESH:D000015|MESH:D003103|MESH:D006972 C05.116.099.370.231.480/C536022|C05.660.207.231.480/C536022|C11.250.110/C536022|C11.270.147/C536022|C16.131.077/C536022|C16.131.384.282/C536022|C16.131.621.207.231.480/C536022 C05.116.099.370.231.480|C05.660.207.231.480|C11.250.110|C11.270.147|C16.131.077|C16.131.384.282|C16.131.621.207.231.480 Manitoba Oculotrichoanal Syndrome|Manitoba Trichoanal syndrome|Marles-Greenberg-Persaud Syndrome|Marles syndrome|MOTA Congenital abnormality|Eye disease|Musculoskeletal disease Maroteaux Fonfria syndrome MESH:C536023 MESH:D000168|MESH:D017689 C05.116.099.370.894.232.015/C536023|C05.116.099.370.894.819.100/C536023|C05.660.207.240.100/C536023|C05.660.585.600/C536023|C05.660.585.800.100/C536023|C05.660.906.364.100/C536023|C05.660.906.819.100/C536023|C16.131.621.207.240.100/C536023|C16.131.621.585.600/C536023|C16.131.621.585.800.100/C536023|C16.131.621.906.364.100/C536023|C16.131.621.906.819.100/C536023 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.660.207.240.100|C05.660.585.600|C05.660.585.800.100|C05.660.906.364.100|C05.660.906.819.100|C16.131.621.207.240.100|C16.131.621.585.600|C16.131.621.585.800.100|C16.131.621.906.364.100|C16.131.621.906.819.100 Apert syndrome with polydactyly of hands and feet|Apparent Apert syndrome with polydactyly Congenital abnormality|Musculoskeletal disease Marsden syndrome MESH:C536024 MESH:D004421|MESH:D029242 C10.292.700.225.500.400/C536024|C10.574.500.662.400/C536024|C10.597.350.300/C536024|C11.270.564.400/C536024|C11.640.451.451.400/C536024|C16.320.290.564.400/C536024|C16.320.400.630.400/C536024|C18.452.660.670/C536024|C23.888.592.350.300/C536024 C10.292.700.225.500.400|C10.574.500.662.400|C10.597.350.300|C11.270.564.400|C11.640.451.451.400|C16.320.290.564.400|C16.320.400.630.400|C18.452.660.670|C23.888.592.350.300 Dystonia, familial, with visual failure and striatal lucencies|Leber Hereditary Optic Neuropathy With Dystonia Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Marshall-Smith syndrome MESH:C536026 DO:DOID:0050858|OMIM:602535 MESH:D000015|MESH:D001848|MESH:D019465|MESH:D025962 C05.116.099/C536026|C05.660.207/C536026|C10.292.562.700.375.875/C536026|C10.500.034.937/C536026|C10.500.760.500/C536026|C11.590.436.400.875/C536026|C16.131.077/C536026|C16.131.621.207/C536026|C16.131.666.034.937/C536026|C16.131.666.763.500/C536026 C05.116.099|C05.660.207|C10.292.562.700.375.875|C10.500.034.937|C10.500.760.500|C11.590.436.400.875|C16.131.077|C16.131.621.207|C16.131.666.034.937|C16.131.666.763.500 MRSHSS Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease Marshall syndrome MESH:C536025 DO:DOID:0111510|OMIM:154780 MESH:D002386|MESH:D006319|MESH:D010009|MESH:D019465 C05.116.099.708/C536025|C05.660.207/C536025|C09.218.458.341.887/C536025|C10.597.751.418.341.887/C536025|C11.510.245/C536025|C16.131.621.207/C536025|C16.320.728/C536025|C23.888.592.763.393.341.887/C536025 C05.116.099.708|C05.660.207|C09.218.458.341.887|C10.597.751.418.341.887|C11.510.245|C16.131.621.207|C16.320.728|C23.888.592.763.393.341.887 Deafness, myopia, cataract, saddle nose-Marshall type|MRSHS Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Martinez-Frias Syndrome MESH:C563346 MESH:D003920|MESH:D005705|MESH:D007409|MESH:D014138 C06.130.564/C563346|C06.198.719/C563346|C06.267.250.725/C563346|C06.405.117.367.725/C563346|C06.405.469.445/C563346|C08.702.750/C563346|C08.907.863/C563346|C16.131.314.466/C563346|C18.452.394.750/C563346|C19.246/C563346|C23.300.575.185.250.725/C563346 C06.130.564|C06.198.719|C06.267.250.725|C06.405.117.367.725|C06.405.469.445|C08.702.750|C08.907.863|C16.131.314.466|C18.452.394.750|C19.246|C23.300.575.185.250.725 Diabetes, Neonatal, with Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia|Martinez Frias syndrome|Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or without Tracheoesophageal Fistula Congenital abnormality|Digestive system disease|Endocrine system disease|Metabolic disease|Pathology (anatomical condition)|Respiratory tract disease Martinez Monasterio Pinheiro syndrome MESH:C536027 MESH:D002971|MESH:D002972|MESH:D006201|MESH:D013576 C05.116.099.370.894.819/C536027|C05.500.460.185/C536027|C05.660.207.540.460.185/C536027|C05.660.585.800/C536027|C05.660.906.819/C536027|C07.320.440.185/C536027|C07.465.409.225/C536027|C07.465.525.164/C536027|C07.465.525.185/C536027|C07.650.500.460.185/C536027|C07.650.525.164/C536027|C07.650.525.185/C536027|C16.131.621.207.540.460.185/C536027|C16.131.621.585.800/C536027|C16.131.621.906.819/C536027|C16.131.850.500.460.185/C536027|C16.131.850.525.164/C536027|C16.131.850.525.185/C536027|C17.800.329/C536027 C05.116.099.370.894.819|C05.500.460.185|C05.660.207.540.460.185|C05.660.585.800|C05.660.906.819|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.621.585.800|C16.131.621.906.819|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C17.800.329 Cleft lip-palate-oligodontia-syndactyly-hair alterations Congenital abnormality|Mouth disease|Musculoskeletal disease|Skin disease Martin-Probst Deafness-Mental Retardation Syndrome MESH:C564495 OMIM:300519 MESH:D000015|MESH:D006319|MESH:D008607|MESH:D040181 C09.218.458.341.887/C564495|C10.597.606.360/C564495|C10.597.751.418.341.887/C564495|C16.131.077/C564495|C16.320.322/C564495|C23.888.592.604.646/C564495|C23.888.592.763.393.341.887/C564495|F03.625.539/C564495 C09.218.458.341.887|C10.597.606.360|C10.597.751.418.341.887|C16.131.077|C16.320.322|C23.888.592.604.646|C23.888.592.763.393.341.887|F03.625.539 MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME|MARTIN-PROBST SYNDROME|MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE|MRXSMP Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Martsolf syndrome MESH:C536028 DO:DOID:0111586|OMIM:212720 MESH:D002386|MESH:D007006|MESH:D008607 C10.597.606.360/C536028|C11.510.245/C536028|C19.391.482/C536028|C23.888.592.604.646/C536028|F03.625.539/C536028 C10.597.606.360|C11.510.245|C19.391.482|C23.888.592.604.646|F03.625.539 Cataract, mental retardation, hypogonadism|Cataract-Mental Retardation-Hypogonadism|MARTS|MARTS1|MARTSOLF SYNDROME|MARTSOLF SYNDROME 1 Endocrine system disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome MESH:C536029 DO:DOID:0060246|OMIM:303350 MESH:D008607|MESH:D015419|MESH:D040181 C10.500.300.820/C536029|C10.574.500.495.820/C536029|C10.597.606.360/C536029|C10.668.829.800.300.820/C536029|C16.131.666.300.820/C536029|C16.320.322/C536029|C16.320.400.375.820/C536029|C23.888.592.604.646/C536029|F03.625.539/C536029 C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.322|C16.320.400.375.820|C23.888.592.604.646|F03.625.539 Adducted thumb with mental retardation|Clasped thumb and mental retardation|Crash syndrome|Gareis-Mason syndrome|Genetic Diseases, X-Linkeds|L1 Syndrome|Masa Syndrome|Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA)|Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs|SPASTIC PARAPLEGIA 1, X-LINKED|Spastic paraplegia, type 1|Spg1|Thumb, congenital clasped, with mental retardation|X-Linked Complicated Hereditary Spastic Paraplegia Type 1|X-Linked Corpus Callosum Agenesis|X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius (Hsas) Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Masked Hypertension MESH:D059468 Phenomenon where increased BLOOD PRESSURE readings taken in non-clinical settings (e.g., HOME BLOOD PRESSURE MONITORING) do not replicate in clinical settings. MESH:D006973 C14.907.489.861 C14.907.489 Hypertension, Masked|Hypertensions, Masked|Masked Hypertensions Cardiovascular disease Masochism MESH:D008398 DO:DOID:10849 Pleasure derived from being physically or psychologically abused, whether inflicted by oneself or by others. Masochism includes sexual masochism. MESH:D010262 F03.657.500 F03.657 Masochisms|Masochism, Sexual|Masochisms, Sexual|Sexual Masochism|Sexual Masochisms Mental disorder Mason-Type Diabetes MESH:C562772 OMIM:606391 MESH:D003924 C18.452.394.750.149/C562772|C19.246.300/C562772 C18.452.394.750.149|C19.246.300 MASON-TYPE DIABETES|Maturity-Onset Diabetes of the Young|MODY Endocrine system disease|Metabolic disease MASP2 Deficiency MESH:C565360 OMIM:613791 MESH:D000081208 C16.320.798.500/C565360|C20.673.795.500/C565360 C16.320.798.500|C20.673.795.500 LCAPD2|LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 Genetic disease (inborn)|Immune system disease Massa Casaer Ceulemans syndrome MESH:C536031 MESH:D001176|MESH:D054082 C05.550.150/C536031|C05.651.102/C536031|C05.660.077/C536031|C10.500.507.450.499/C536031|C16.131.621.077/C536031|C16.131.666.507.450.499/C536031 C05.550.150|C05.651.102|C05.660.077|C10.500.507.450.499|C16.131.621.077|C16.131.666.507.450.499 Arthrogryposis multiplex congenita associated with lissencephaly Congenital abnormality|Musculoskeletal disease|Nervous system disease Massive Hepatic Necrosis MESH:D047508 Extensive and rapid death of parenchymal cells in the LIVER, often due to exposure to toxic materials or drug-induced injury. It is characterized by a soft, flabby, yellow-brown wrinkled, and shrunken liver. It was called 'acute yellow atrophy'. MESH:D017114|MESH:D056486 C06.552.100.600|C06.552.308.500.750.500 C06.552.100|C06.552.308.500.750 Acute Yellow Atrophies|Acute Yellow Atrophy|Acute Yellow Atrophy of Liver|Drug-induced Hepatic Necroses|Drug induced Hepatic Necrosis|Drug-induced Hepatic Necrosis|Fulminant Hepatitides|Fulminant Hepatitis|Hepatic Necrosis, Drug-induced|Hepatic Necrosis, Massive|Hepatic Necrosis, Submassive|Hepatitis, Fulminant|Necrosis, Drug-induced Hepatic|Necrosis, Submassive Hepatic|Submassive Hepatic Necroses|Submassive Hepatic Necrosis|Yellow Atrophy, Acute Digestive system disease MASS syndrome MESH:C536030 OMIM:604308 MESH:D008945|MESH:D009216|MESH:D012871 C11.744.636/C536030|C14.280.484.400.500/C536030|C17.800/C536030 C11.744.636|C14.280.484.400.500|C17.800 Mass phenotype|OCTD|Overlap connective tissue disease Cardiovascular disease|Eye disease|Skin disease Mast Cell Activation Disorders MESH:D000090362 A spectrum of primary, secondary, and idiopathic disorders involving MAST CELLS and characterized by an aberrant release of mast cell mediators which result in multiple and variable inflammatory and allergic symptoms. These disorders are associated with various mutations in tyrosine kinase KIT (PROTO-ONCOGENE PROTEINS C-KIT) and other genes, underlying conditions, and responses to allergic or non-allergic triggers of mast cell stimulation and degranulation such as local anesthetics, lactam antibiotics, muscle relaxants, specific foods, environmental toxins, physical conditions such as vibration, cold, pressure, and stress. MESH:D007154 C20.762 C20 Clonal Mast Cell Proliferation Disorders|Mast Cell Activation Disease|Mast Cell Disease|Mast-Cell Disease|Mast Cell Diseases|Mast-Cell Diseases|Monoclonal Mast Cell Activation Syndrome|Primary Mast Cell Activation Disorders Immune system disease Mast Cell Activation Syndrome MESH:D000090267 A clinically and genetically heterogeneous group of mast cell disorders in which there is aberrant release of mast cell mediators with little to no accompanying proliferation of MAST CELLS. MESH:D000090362 C20.762.500 C20.762 Idiopathic Mast Cell Activation Disorder|Mast Cell Activation Syndromes|nc MCAS|nc-MCAS|Non Clonal Mast Cell Activation Disorder|Non-Clonal Mast Cell Activation Disorder|Nonclonal Mast Cell Activation Syndrome|Non Clonal Mast Cell Activation Syndrome|Non-Clonal Mast Cell Activation Syndrome Immune system disease Mast-Cell Sarcoma MESH:D012515 DO:DOID:355 A unifocal malignant tumor that consists of atypical pathological MAST CELLS without systemic involvement. It causes local destructive growth in organs other than in skin or bone marrow. MESH:D008415 C04.557.450.565.465.124|C20.762.750.375 C04.557.450.565.465|C20.762.750 Malignant Mastocytoma|Malignant Mastocytomas|Mast Cell Sarcoma|Mast-Cell Sarcomas|Mastocytoma, Malignant|Mastocytomas, Malignant|Sarcoma, Mast Cell|Sarcoma, Mast-Cell|Sarcomas, Mast-Cell Cancer|Immune system disease Masticatory Muscles, Hypertrophy of MESH:C563600 MESH:D006984 C23.300.775/C563600 C23.300.775 Masseter Muscle Hypertrophy Pathology (anatomical condition) Mastitis MESH:D008413 DO:DOID:10690 INFLAMMATION of the BREAST, or MAMMARY GLAND. MESH:D001941|MESH:D011644 C12.050.703.844.603|C17.800.090.968 C12.050.703.844|C17.800.090 Pregnancy complication|Skin disease Mastitis, Bovine MESH:D008414 INFLAMMATION of the UDDER in cows. MESH:D002418 C22.196.581 C22.196 Bovine Mastitides|Bovine Mastitis|Mastitides, Bovine Animal disease Mastocytic enterocolitis MESH:C536032 MESH:D008415 C04.557.450.565.465/C536032|C20.762.750/C536032 C04.557.450.565.465|C20.762.750 Cancer|Immune system disease Mastocytoma MESH:D034801 DO:DOID:4659 A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign. MESH:D008415 C04.557.450.565.465.249|C20.762.750.469 C04.557.450.565.465|C20.762.750 Benign Mastocytoma|Extracutaneous Mastocytoma|Extracutaneous Mastocytomas|Mastocytoma, Benign|Mastocytoma, Extracutaneous|Mastocytomas, Extracutaneous Cancer|Immune system disease Mastocytoma, Skin MESH:D054705 DO:DOID:3666 A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology. MESH:D034701|MESH:D034801 C04.557.450.565.465.249.500|C04.557.450.565.465.500.500|C04.588.805.309.500|C17.800.882.356.500|C20.762.750.469.500|C20.762.750.563.500 C04.557.450.565.465.249|C04.557.450.565.465.500|C04.588.805.309|C17.800.882.356|C20.762.750.469|C20.762.750.563 Skin Mastocytoma|Solitary Mastocytoma of Skin Cancer|Immune system disease|Skin disease Mastocytosis MESH:D008415 DO:DOID:350|OMIM:154800 A rare neoplastic disorder characterized by a clonal proliferation of MAST CELLS, associated with KIT-D816 mutations, and accompanied by aberrant mast cell activation. The abnormal increase of MAST CELLS may occur in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA). MESH:D000090362|MESH:D009372 C04.557.450.565.465|C20.762.750 C04.557.450.565|C20.762 MASTC|MAST CELL LEUKEMIA, INCLUDED|MASTOCYTOSIS, CUTANEOUS|MASTOCYTOSIS, DIFFUSE CUTANEOUS MASTOCYTOSIS, SYSTEMIC, INCLUDED|MASTOCYTOSIS, INDOLENT, INCLUDED|MASTOCYTOSIS, MACULOPAPULAR CUTANEOUS|MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, INCLUDED|MASTSYS, INCLUDED|URTICARIA PIGMENTOSA Cancer|Immune system disease Mastocytosis, Cutaneous MESH:D034701 DO:DOID:3663|DO:DOID:3665 Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN. MESH:D008415|MESH:D012878 C04.557.450.565.465.500|C04.588.805.309|C17.800.882.356|C20.762.750.563 C04.557.450.565.465|C04.588.805|C17.800.882|C20.762.750 Bullous Mastocytoses|Bullous Mastocytosis|Cutaneous Mastocytoses|Cutaneous Mastocytoses, Diffuse|Cutaneous Mastocytosis|Cutaneous Mastocytosis, Diffuse|Mastocytoses, Bullous|Mastocytoses, Cutaneous|Mastocytoses, Skin|Mastocytosis, Bullous|Mastocytosis, Diffuse Cutaneous|Mastocytosis, Skin|Skin Mastocytoses|Skin Mastocytosis Cancer|Immune system disease|Skin disease Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia MESH:C536033 MESH:D006314|MESH:D034701|MESH:D065817 C04.557.450.565.465.500/C536033|C04.588.805.309/C536033|C09.218.235/C536033|C09.218.458.341.562/C536033|C10.597.751.418.341.562/C536033|C16.131.287/C536033|C17.800.882.356/C536033|C20.762.750.563/C536033|C23.888.592.763.393.341.562/C536033 C04.557.450.565.465.500|C04.588.805.309|C09.218.235|C09.218.458.341.562|C10.597.751.418.341.562|C16.131.287|C17.800.882.356|C20.762.750.563|C23.888.592.763.393.341.562 Cancer|Congenital abnormality|Ear-nose-throat disease|Immune system disease|Nervous system disease|Signs and symptoms|Skin disease Mastocytosis, Systemic MESH:D034721 DO:DOID:349|DO:DOID:4660|DO:DOID:4798 A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis. MESH:D008415 C04.557.450.565.465.750|C20.762.750.750 C04.557.450.565.465|C20.762.750 Aggressive Systemic Mastocytoses|Aggressive Systemic Mastocytosis|Indolent Systemic Mastocytoses|Indolent Systemic Mastocytosis|Mast-Cell Diseases, Systemic|Mast-Cell Disease, Systemic|Mastocytoses, Aggressive Systemic|Mastocytoses, Indolent Systemic|Mastocytoses, Systemic|Mastocytosis, Aggressive Systemic|Mastocytosis, Indolent Systemic|Systemic Mast Cell Disease|Systemic Mast-Cell Disease|Systemic Mast-Cell Diseases|Systemic Mastocytoses|Systemic Mastocytoses, Aggressive|Systemic Mastocytoses, Indolent|Systemic Mastocytosis|Systemic Mastocytosis, Aggressive|Systemic Mastocytosis, Indolent Cancer|Immune system disease Mastodynia MESH:D059373 Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating. MESH:D010146 C23.888.592.612.530 C23.888.592.612 Breast Pain|Breast Pains|Mammalgia|Mammalgias|Mastalgia|Mastalgias|Mastodynias|Pain, Breast|Pains, Breast Signs and symptoms Mastoiditis MESH:D008417 DO:DOID:0060322 Inflammation of the honeycomb-like MASTOID BONE in the skull just behind the ear. It is usually a complication of OTITIS MEDIA. MESH:D010019|MESH:D010033 C01.160.495.500|C05.116.165.495.249|C09.218.705.663.652 C01.160.495|C05.116.165.495|C09.218.705.663 Mastoiditides Ear-nose-throat disease|Musculoskeletal disease MAST Syndrome MESH:C565409 DO:DOID:0060245|OMIM:248900 MESH:D003704|MESH:D015419 C10.228.140.380/C565409|C10.500.300.820/C565409|C10.574.500.495.820/C565409|C10.668.829.800.300.820/C565409|C16.131.666.300.820/C565409|C16.320.400.375.820/C565409|F03.615.400/C565409 C10.228.140.380|C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|F03.615.400 MASTS|Spastic Paraplegia 21, Autosomal Recessive|SPG21 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease Maternal Death MESH:D063130 The death of the female parent. MESH:D011248|MESH:D063129 C12.050.703.401|C23.550.260.730.500 C12.050.703|C23.550.260.730 Death, Maternal|Deaths, Maternal|Maternal Deaths Pathology (process)|Pregnancy complication Maternally Inherited Leigh Syndrome MESH:C536035 MESH:D007888 C10.228.140.163.100.412/C536035|C16.320.565.189.412/C536035|C16.320.565.202.810.444/C536035|C18.452.132.100.412/C536035|C18.452.648.189.412/C536035|C18.452.648.202.810.444/C536035|C18.452.660.520/C536035 C10.228.140.163.100.412|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 Leigh disease, maternally inherited|Subacute necrotizing encephalomyelopathy maternally inherited Genetic disease (inborn)|Metabolic disease|Nervous system disease Maturity-Onset Diabetes of the Young, Type 1 MESH:C565101 OMIM:125850 MESH:D003924 C18.452.394.750.149/C565101|C19.246.300/C565101 C18.452.394.750.149|C19.246.300 Mild Juvenile Diabetes Mellitus|MODY1|MODY, Type 1 Endocrine system disease|Metabolic disease MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 OMIM:613370 DO:DOID:0111108 MESH:D003920 C18.452.394.750/613370|C19.246/613370 C18.452.394.750|C19.246 MODY10 Endocrine system disease|Metabolic disease MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 OMIM:613375 DO:DOID:0111109 MESH:D003920 C18.452.394.750/613375|C19.246/613375 C18.452.394.750|C19.246 MODY11 Endocrine system disease|Metabolic disease MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 OMIM:616329 DO:DOID:0111110 MESH:D003924 C18.452.394.750.149/616329|C19.246.300/616329 C18.452.394.750.149|C19.246.300 MODY13|MODY, TYPE 13 Endocrine system disease|Metabolic disease MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 OMIM:616511 DO:DOID:0111111 MESH:D003924 C18.452.394.750.149/616511|C19.246.300/616511 C18.452.394.750.149|C19.246.300 MODY14 Endocrine system disease|Metabolic disease Maturity-Onset Diabetes of the Young, Type 2 MESH:C564219 OMIM:125851 MESH:D003924 C18.452.394.750.149/C564219|C19.246.300/C564219 C18.452.394.750.149|C19.246.300 Diabetes Mellitus, Type II, Autosomal Dominant|MODY2|MODY, Glucokinase-Related|MODY, Type 2 Endocrine system disease|Metabolic disease Maturity-Onset Diabetes of the Young, Type 3 MESH:C563933 OMIM:600496 MESH:D003924 C18.452.394.750.149/C563933|C19.246.300/C563933 C18.452.394.750.149|C19.246.300 MODY3|MODY, Type 3 Endocrine system disease|Metabolic disease Maturity-Onset Diabetes of the Young, Type 4 MESH:C563451 DO:DOID:0111103|OMIM:606392 MESH:D003924 C18.452.394.750.149/C563451|C19.246.300/C563451 C18.452.394.750.149|C19.246.300 MODY4|MODY, Type 4 Endocrine system disease|Metabolic disease Maturity-Onset Diabetes of the Young, Type 7 MESH:C566466 OMIM:610508 MESH:D003920 C18.452.394.750/C566466|C19.246/C566466 C18.452.394.750|C19.246 MODY7 Endocrine system disease|Metabolic disease Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction MESH:C565225 OMIM:609812 MESH:D003924 C18.452.394.750.149/C565225|C19.246.300/C565225 C18.452.394.750.149|C19.246.300 Diabetes and Pancreatic Exocrine Dysfunction|Diabetes-Pancreatic Exocrine Dysfunction Syndrome|DPED|MODY8 Endocrine system disease|Metabolic disease Maturity-Onset Diabetes Of The Young, Type 9 MESH:C567393 OMIM:612225 MESH:D003924 C18.452.394.750.149/C567393|C19.246.300/C567393 C18.452.394.750.149|C19.246.300 MODY9 Endocrine system disease|Metabolic disease Maxillary Diseases MESH:D008439 Diseases involving the MAXILLA. MESH:D007571 C05.500.693|C07.320.660 C05.500|C07.320 Disease, Maxillary|Diseases, Maxillary|Maxillary Disease Mouth disease|Musculoskeletal disease Maxillary Fractures MESH:D008440 Fractures of the upper jaw. MESH:D007572 C10.900.300.284.500.400.510|C26.404.750.467.611|C26.915.300.425.500.400.510 C10.900.300.284.500.400|C26.404.750.467|C26.915.300.425.500.400 Fracture, Maxillary|Fractures, Maxillary|Maxillary Fracture Nervous system disease|Wounds and injuries Maxillary Neoplasms MESH:D008441 DO:DOID:4618 Cancer or tumors of the MAXILLA or upper jaw. MESH:D007573|MESH:D008439 C04.588.149.721.450.601|C05.116.231.754.450.601|C05.500.499.601|C05.500.693.528|C07.320.515.601|C07.320.660.601 C04.588.149.721.450|C05.116.231.754.450|C05.500.499|C05.500.693|C07.320.515|C07.320.660 Maxillary Neoplasm|Neoplasm, Maxillary|Neoplasms, Maxillary Cancer|Mouth disease|Musculoskeletal disease Maxillary Sinusitis MESH:D015523 DO:DOID:2051 Inflammation of the NASAL MUCOSA in the MAXILLARY SINUS. In many cases, it is caused by an infection of the bacteria HAEMOPHILUS INFLUENZAE; STREPTOCOCCUS PNEUMONIAE; or STAPHYLOCOCCUS AUREUS. MESH:D012852 C01.748.749.578|C08.460.692.752.578|C08.730.749.578|C09.603.692.752.578 C01.748.749|C08.460.692.752|C08.730.749|C09.603.692.752 Maxillary Sinusitides|Sinusitides, Maxillary|Sinusitis, Maxillary Ear-nose-throat disease|Respiratory tract disease Maxillary Sinus Neoplasms MESH:D008444 DO:DOID:1358 Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms. MESH:D010255 C04.588.443.665.650.693.575|C08.460.669.693.575|C08.460.692.503.503|C08.785.600.693.575|C09.603.669.693.575|C09.603.692.503.503|C09.647.685.693.575 C04.588.443.665.650.693|C08.460.669.693|C08.460.692.503|C08.785.600.693|C09.603.669.693|C09.603.692.503|C09.647.685.693 Cancer, Maxillary Sinus|Cancer of Maxillary Sinus|Cancers, Maxillary Sinus|Maxillary Sinus Cancer|Maxillary Sinus Cancers|Maxillary Sinus Neoplasm|Neoplasm, Maxillary Sinus|Neoplasms, Maxillary Sinus Cancer|Ear-nose-throat disease|Respiratory tract disease Maxillofacial Abnormalities MESH:D019767 Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones. MESH:D018640|MESH:D019465 C05.660.207.540|C07.650.500|C16.131.621.207.540|C16.131.850.500 C05.660.207|C07.650|C16.131.621.207|C16.131.850 Abnormalities, Maxillofacial|Abnormality, Maxillofacial|Maxillofacial Abnormality Congenital abnormality|Mouth disease|Musculoskeletal disease Maxillofacial Dysostosis MESH:C563599 MESH:D003394|MESH:D005124|MESH:D013064|MESH:D019767 C05.116.099.370.231/C563599|C05.660.207.231/C563599|C05.660.207.540/C563599|C07.650.500/C563599|C10.597.606.150.500.800/C563599|C11.250/C563599|C16.131.384/C563599|C16.131.621.207.231/C563599|C16.131.621.207.540/C563599|C16.131.850.500/C563599|C23.888.592.604.150.500.800/C563599 C05.116.099.370.231|C05.660.207.231|C05.660.207.540|C07.650.500|C10.597.606.150.500.800|C11.250|C16.131.384|C16.131.621.207.231|C16.131.621.207.540|C16.131.850.500|C23.888.592.604.150.500.800 Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Maxillofacial Injuries MESH:D008446 General or unspecified injuries involving the face and jaw (either upper, lower, or both). MESH:D005151 C10.900.300.284.500|C26.915.300.425.500 C10.900.300.284|C26.915.300.425 Injuries, Maxillofacial|Injury, Maxillofacial|Maxillofacial Injury Nervous system disease|Wounds and injuries Maxillonasal dysplasia, Binder type MESH:C536036 DO:DOID:14683 MESH:D019767 C05.660.207.540/C536036|C07.650.500/C536036|C16.131.621.207.540/C536036|C16.131.850.500/C536036 C05.660.207.540|C07.650.500|C16.131.621.207.540|C16.131.850.500 Binder syndrome Congenital abnormality|Mouth disease|Musculoskeletal disease MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME OMIM:277000 DO:DOID:0112178 MESH:C537371 C12.050.351.875.253.064/C537371/277000|C12.200.706.316.064/C537371/277000|C12.800.316.064/C537371/277000|C16.131.939.316.064/C537371/277000|C16.131/C537371/277000|C19.391.119.064/C537371/277000 C12.050.351.875.253.064/C537371|C12.200.706.316.064/C537371|C12.800.316.064/C537371|C16.131.939.316.064/C537371|C16.131/C537371|C19.391.119.064/C537371 CONGENITAL ABSENCE OF UTERUS AND VAGINA;CAUV UROGENITAL ADYSPLASIA, INCLUDED|MRK ANOMALY|MRKH|MRKH ANOMALY|MRKH SYNDROME|MULLERIAN APLASIA/DYSGENESIS|UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA|VON MAYER-ROKITANSKY-KUSTER ANOMALY Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) May-Thurner Syndrome MESH:D062108 A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation. MESH:D016491|MESH:D054079 C14.240.850.906|C14.907.617.648|C16.131.240.850.890 C14.240.850|C14.907.617|C16.131.240.850 Cockett Syndrome|Compression Syndrome, Iliocaval|Compression Syndromes, Iliocaval|Iliac Vein Compression Syndrome|Iliocaval Compression Syndrome|Iliocaval Compression Syndromes|May Thurner Syndrome|Syndrome, Cockett|Syndrome, Iliocaval Compression|Syndrome, May-Thurner|Syndromes, Iliocaval Compression Cardiovascular disease|Congenital abnormality McDonough syndrome MESH:C538158 MESH:D000015|MESH:D003456|MESH:D006330|MESH:D007738|MESH:D008607|MESH:D019066 C05.116.900.800.500/C538158|C10.597.606.360/C538158|C12.100.500.829.258/C538158|C12.200.294.829.258/C538158|C12.200.706.258/C538158|C12.800.258/C538158|C14.240.400/C538158|C14.280.400/C538158|C16.131.077/C538158|C16.131.240.400/C538158|C16.131.939.258/C538158|C19.391.829.258/C538158|C23.550.291.812/C538158|C23.888.592.604.646/C538158|F03.625.539/C538158 C05.116.900.800.500|C10.597.606.360|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.939.258|C19.391.829.258|C23.550.291.812|C23.888.592.604.646|F03.625.539 Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect Cardiovascular disease|Congenital abnormality|Endocrine system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (male) McKusick Kaufman syndrome MESH:C538159 DO:DOID:0111255|OMIM:236700 MESH:D000015|MESH:D006330|MESH:D014591|MESH:D017689|MESH:D052202 C05.660.585.600/C538159|C12.050.351.500.852/C538159|C12.050.351.500.894.500/C538159|C12.100.250.852/C538159|C12.100.250.894.500/C538159|C14.240.400/C538159|C14.280.400/C538159|C16.131.077/C538159|C16.131.240.400/C538159|C16.131.621.585.600/C538159 C05.660.585.600|C12.050.351.500.852|C12.050.351.500.894.500|C12.100.250.852|C12.100.250.894.500|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.585.600 HMCS|Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation|Hydrometrocolpos syndrome|Kaufman-Mckusick Syndrome|Kaufman McKusick syndrome|Mckusick-Kaufman Syndrome|MKKS Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Urogenital disease (female) McPherson Clemens syndrome MESH:C538160 MESH:D000015|MESH:D002971|MESH:D002972|MESH:D006330|MESH:D019066|MESH:D045822 C05.500.460.185/C538160|C05.660.207.540.460.185/C538160|C06.405.469.531.568/C538160|C07.320.440.185/C538160|C07.465.409.225/C538160|C07.465.525.164/C538160|C07.465.525.185/C538160|C07.650.500.460.185/C538160|C07.650.525.164/C538160|C07.650.525.185/C538160|C14.240.400/C538160|C14.280.400/C538160|C16.131.077/C538160|C16.131.240.400/C538160|C16.131.621.207.540.460.185/C538160|C16.131.850.500.460.185/C538160|C16.131.850.525.164/C538160|C16.131.850.525.185/C538160|C23.300.970.500/C538160|C23.550.291.812/C538160 C05.500.460.185|C05.660.207.540.460.185|C06.405.469.531.568|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C23.300.970.500|C23.550.291.812 Cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease|Cleft Lip-Palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease Cardiovascular disease|Congenital abnormality|Digestive system disease|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process) McPherson Robertson Cammarano syndrome MESH:C538161 MESH:D001763|MESH:D011681|MESH:D013285 C10.292.562.887/C538161|C10.597.690/C538161|C11.338.204/C538161|C11.590.810/C538161|C11.710/C538161|C23.888.592.708/C538161 C10.292.562.887|C10.597.690|C11.338.204|C11.590.810|C11.710|C23.888.592.708 Dominantly inherited ptosis, strabismus and ectopic pupils Eye disease|Nervous system disease|Signs and symptoms Meacham Winn Culler syndrome MESH:C538162 OMIM:608978 MESH:D006061 C12.050.351.875.253.096.687/C538162|C12.050.351.875.253.309.388/C538162|C12.200.706.316.096.687/C538162|C12.200.706.316.309.388/C538162|C12.800.316.096.687/C538162|C12.800.316.309.388/C538162|C16.131.939.316.096.687/C538162|C16.131.939.316.309.388/C538162|C19.391.119.096.687/C538162|C19.391.119.309.388/C538162 C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.939.316.096.687|C16.131.939.316.309.388|C19.391.119.096.687|C19.391.119.309.388 Meacham Syndrome Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Meandering main pancreatic duct MESH:C000718908 MESH:D004065 C06.198/C000718908|C16.131.314/C000718908 C06.198|C16.131.314 MMPD Meandering main pancreatic duct Congenital abnormality|Digestive system disease Measles MESH:D008457 DO:DOID:8622 A highly contagious infectious disease caused by MORBILLIVIRUS, common among children but also seen in the nonimmune of any age, in which the virus enters the respiratory tract via droplet nuclei and multiplies in the epithelial cells, spreading throughout the MONONUCLEAR PHAGOCYTE SYSTEM. MESH:D018185 C01.925.782.580.600.500.500 C01.925.782.580.600.500 Rubeola Viral disease Meckel Diverticulum MESH:D008467 DO:DOID:9487 A congenital abnormality characterized by the outpouching or sac formation in the ILEUM. It is a remnant of the embryonic YOLK SAC in which the VITELLINE DUCT failed to close. MESH:D004065|MESH:D004240 C06.198.859|C06.405.205.282.750.750|C16.131.314.556|C23.300.415.750 C06.198|C06.405.205.282.750|C16.131.314|C23.300.415 Diverticulum, Meckel|Meckel's Diverticulum Congenital abnormality|Digestive system disease|Pathology (anatomical condition) Meckel-Like Cerebrorenodigital Syndrome MESH:C567004 MESH:D004677|MESH:D007690|MESH:D017689 C05.660.585.600/C567004|C10.500.680.488/C567004|C12.050.351.968.419.403.875/C567004|C12.200.777.419.403.875/C567004|C12.950.419.403.875/C567004|C16.131.077.717/C567004|C16.131.621.585.600/C567004|C16.131.666.680.488/C567004|C16.320.184.625/C567004|C23.300.707.186/C567004 C05.660.585.600|C10.500.680.488|C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.717|C16.131.621.585.600|C16.131.666.680.488|C16.320.184.625|C23.300.707.186 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Meckel syndrome type 1 MESH:C536133 OMIM:249000 MESH:D002925|MESH:D004677|MESH:D007690|MESH:D012174 C08.200/C536133|C09.150/C536133|C10.500.680.488/C536133|C11.270.684/C536133|C11.768.585.658.500/C536133|C12.050.351.968.419.403.875/C536133|C12.200.777.419.403.875/C536133|C12.950.419.403.875/C536133|C16.131.077.245.500/C536133|C16.131.077.717/C536133|C16.131.666.680.488/C536133|C16.320.184.500/C536133|C16.320.184.625/C536133|C16.320.290.684/C536133|C23.300.707.186/C536133 C08.200|C09.150|C10.500.680.488|C11.270.684|C11.768.585.658.500|C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.245.500|C16.131.077.717|C16.131.666.680.488|C16.320.184.500|C16.320.184.625|C16.320.290.684|C23.300.707.186 Dysencephalia splachnocystica|Dysencephalia Splanchnocystica|Gruber syndrome|Meckel Gruber syndrome|Meckel-Gruber Syndrome|Meckel-Gruber Syndrome, Type 1|Meckel Syndrome|Meckel syndrome type1|Meckel Syndrome, Type 1|MES|MKS|MKS1 Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Meckel syndrome type 2 MESH:C536131 OMIM:603194 MESH:D002925|MESH:D004677|MESH:D007690 C08.200/C536131|C09.150/C536131|C10.500.680.488/C536131|C12.050.351.968.419.403.875/C536131|C12.200.777.419.403.875/C536131|C12.950.419.403.875/C536131|C16.131.077.245.500/C536131|C16.131.077.717/C536131|C16.131.666.680.488/C536131|C16.320.184.500/C536131|C16.320.184.625/C536131|C23.300.707.186/C536131 C08.200|C09.150|C10.500.680.488|C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.245.500|C16.131.077.717|C16.131.666.680.488|C16.320.184.500|C16.320.184.625|C23.300.707.186 Meckel-Gruber Syndrome, Type 2|Meckel Syndrome, Type 2|MKS2 Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Meckel syndrome type 3 MESH:C536132 OMIM:607361 MESH:D002925|MESH:D004677|MESH:D007690 C08.200/C536132|C09.150/C536132|C10.500.680.488/C536132|C12.050.351.968.419.403.875/C536132|C12.200.777.419.403.875/C536132|C12.950.419.403.875/C536132|C16.131.077.245.500/C536132|C16.131.077.717/C536132|C16.131.666.680.488/C536132|C16.320.184.500/C536132|C16.320.184.625/C536132|C23.300.707.186/C536132 C08.200|C09.150|C10.500.680.488|C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.245.500|C16.131.077.717|C16.131.666.680.488|C16.320.184.500|C16.320.184.625|C23.300.707.186 Meckel-Gruber Syndrome, Type 3|Meckel Syndrome, Type 3|MKS3 Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Meckel Syndrome, Type 4 MESH:C567003 OMIM:611134 MESH:D004677|MESH:D007690|MESH:D017689 C05.660.585.600/C567003|C10.500.680.488/C567003|C12.050.351.968.419.403.875/C567003|C12.200.777.419.403.875/C567003|C12.950.419.403.875/C567003|C16.131.077.717/C567003|C16.131.621.585.600/C567003|C16.131.666.680.488/C567003|C16.320.184.625/C567003|C23.300.707.186/C567003 C05.660.585.600|C10.500.680.488|C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.717|C16.131.621.585.600|C16.131.666.680.488|C16.320.184.625|C23.300.707.186 Meckel-Gruber Syndrome, Type 4|MECKEL-GRUBER SYNDROME, TYPE 4 MECKEL-LIKE CEREBRORENODIGITAL SYNDROME, INCLUDED|MKS4 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Meckel Syndrome, Type 5 MESH:C566915 OMIM:611561 MESH:D000015|MESH:D004677|MESH:D007690 C10.500.680.488/C566915|C12.050.351.968.419.403.875/C566915|C12.200.777.419.403.875/C566915|C12.950.419.403.875/C566915|C16.131.077.717/C566915|C16.131.077/C566915|C16.131.666.680.488/C566915|C16.320.184.625/C566915|C23.300.707.186/C566915 C10.500.680.488|C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077|C16.131.077.717|C16.131.666.680.488|C16.320.184.625|C23.300.707.186 MKS5 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Meckel Syndrome, Type 6 MESH:C567365 OMIM:612284 MESH:D000015|MESH:D004677|MESH:D007690 C10.500.680.488/C567365|C12.050.351.968.419.403.875/C567365|C12.200.777.419.403.875/C567365|C12.950.419.403.875/C567365|C16.131.077.717/C567365|C16.131.077/C567365|C16.131.666.680.488/C567365|C16.320.184.625/C567365|C23.300.707.186/C567365 C10.500.680.488|C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077|C16.131.077.717|C16.131.666.680.488|C16.320.184.625|C23.300.707.186 MKS6 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Meconium Aspiration Syndrome MESH:D008471 DO:DOID:11049 A condition caused by inhalation of MECONIUM into the LUNG of FETUS or NEWBORN, usually due to vigorous respiratory movements during difficult PARTURITION or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in PULMONARY GAS EXCHANGE and ASPIRATION PNEUMONIA. MESH:D005315|MESH:D007232|MESH:D012120|MESH:D055370 C08.381.520.687|C08.618.580|C12.050.703.277.785|C16.300.580|C16.614.580 C08.381.520|C08.618|C12.050.703.277|C16.300|C16.614 Aspiration, Meconium|Aspiration Syndrome, Meconium|Meconium Aspiration|Meconium Inhalation|Syndrome, Meconium Aspiration Fetal disease|Infant-newborn disease|Pregnancy complication|Respiratory tract disease Meconium Ileus MESH:D000074270 OMIM:614665 Intestinal obstruction caused by congealed MECONIUM in the distal ILEUM and CECUM. It presents shortly after birth as a failure to pass meconium and frequently occurs in infants with CYSTIC FIBROSIS. MESH:D007415 C06.405.469.531.788 C06.405.469.531 Ileus, Meconium Digestive system disease Medial Medullary Syndrome MESH:C536134 MESH:D020526 C10.228.140.300.150.477.100/C536134|C10.228.140.300.775.200.100/C536134|C14.907.253.092.477.100/C536134|C14.907.253.855.200.100/C536134|C23.550.513.355.250.100/C536134|C23.550.717.489.250.100/C536134 C10.228.140.300.150.477.100|C10.228.140.300.775.200.100|C14.907.253.092.477.100|C14.907.253.855.200.100|C23.550.513.355.250.100|C23.550.717.489.250.100 Cardiovascular disease|Nervous system disease|Pathology (process) Medial Tibial Stress Syndrome MESH:D058923 SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity. MESH:D007869|MESH:D009135 C05.651.426|C10.668.491.087|C26.558.705 C05.651|C10.668.491|C26.558 Medial Tibial Stress Syndrome (MTSS)|Medial Tibial Stress Syndromes|Shin Splint|Shin Splints Musculoskeletal disease|Nervous system disease|Wounds and injuries Median Arcuate Ligament Syndrome MESH:D000074742 DO:DOID:9892 Compression of the CELIAC ARTERY by the median arcuate ligament, a fibrous band of the DIAPHRAGM, causing abdominal pain after eating and weight loss. OMIM: 116870 MESH:D001157|MESH:D004065|MESH:D054079 C06.198.929|C14.240.850.922|C14.907.137.527|C16.131.240.850.898 C06.198|C14.240.850|C14.907.137|C16.131.240.850 Celiac Artery Compression Syndrome|Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm|Celiac Trunk Compression Syndrome|Dunbar Syndrome|Syndrome, Dunbar Cardiovascular disease|Congenital abnormality|Digestive system disease Median cleft lip, corpus callosum, lipoma, and skin polyps MESH:C536135 MESH:D002971|MESH:D003103|MESH:D008067|MESH:D009298|MESH:D012871|MESH:D061085 C04.557.450.550.400/C536135|C07.465.409.225/C536135|C07.465.525.164/C536135|C07.650.525.164/C536135|C08.460.572/C536135|C09.603.557/C536135|C10.500.034/C536135|C11.250.110/C536135|C11.270.147/C536135|C16.131.384.282/C536135|C16.131.666.034/C536135|C16.131.850.525.164/C536135|C17.800/C536135|C23.300.008/C536135|C23.300.825.557/C536135 C04.557.450.550.400|C07.465.409.225|C07.465.525.164|C07.650.525.164|C08.460.572|C09.603.557|C10.500.034|C11.250.110|C11.270.147|C16.131.384.282|C16.131.666.034|C16.131.850.525.164|C17.800|C23.300.008|C23.300.825.557 Cleft, median, of upper lip with polyps of facial skin and nasal mucosa|Pai Levkoff syndrome|Pai syndrome Cancer|Congenital abnormality|Ear-nose-throat disease|Eye disease|Mouth disease|Nervous system disease|Pathology (anatomical condition)|Respiratory tract disease|Skin disease Median Neuropathy MESH:D020423 Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (CARPAL TUNNEL SYNDROME). MESH:D020422 C10.668.829.500.500 C10.668.829.500 Distal Medial Neuropathies|Distal Medial Neuropathy|Entrapment, Median Nerve|Medial Neuropathy, Distal|Median Mononeuropathies|Median Mononeuropathy|Median Nerve Disease|Median Nerve Diseases|Median Nerve Entrapment|Median Nerve Entrapment Neuropathy|Median Nerve Entrapments|Median Nerve Neuralgia|Median Nerve Neuralgias|Median Nerve Neuropathies|Median Nerve Neuropathy|Median Neuropathies|Median Neuropathy, Proximal|Mononeuropathy, Median|Nerve Disease, Median|Nerve Entrapment, Median|Nerve Neuropathy, Median|Neuralgia, Median Nerve|Neuropathy, Distal Medial|Neuropathy, Median|Neuropathy, Median Nerve|Neuropathy, Proximal Median|Proximal Median Neuropathies|Proximal Median Neuropathy Nervous system disease Median-Ulnar Nerve Communications MESH:C563598 MESH:D009421 C10.500/C563598|C16.131.666/C563598 C10.500|C16.131.666 Martin-Gruber Median-Ulnar Anastomosis Congenital abnormality|Nervous system disease Mediastinal Cyst MESH:D008476 Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus. MESH:D003560|MESH:D008477 C04.182.444|C08.846.187.145 C04.182|C08.846.187 Cyst, Mediastinal|Cyst, Pericardial|Cysts, Mediastinal|Cysts, Pericardial|Cysts, Thoracic|Cysts, Thymic|Cysts, Tracheal|Cyst, Thoracic|Cyst, Thymic|Cyst, Tracheal|Mediastinal Cysts|Pericardial Cyst|Pericardial Cysts|Thoracic Cyst|Thoracic Cysts|Thymic Cyst|Thymic Cysts|Tracheal Cyst|Tracheal Cysts Cancer|Respiratory tract disease Mediastinal Diseases MESH:D008477 Disorders of the mediastinum, general or unspecified. MESH:D013896 C08.846.187 C08.846 Disease, Mediastinal|Diseases, Mediastinal|Mediastinal Disease Respiratory tract disease Mediastinal Emphysema MESH:D008478 Presence of air in the mediastinal tissues due to leakage of air from the tracheobronchial tree, usually as a result of trauma. MESH:D004646|MESH:D008477 C08.846.187.290|C23.550.325.250 C08.846.187|C23.550.325 Emphysema, Interstitial|Emphysema, Mediastinal|Interstitial Emphysema|Interstitial Emphysema of Lung|Lung Interstitial Emphysema|Mediastinal Emphysemas|Pneumomediastinum|Pneumomediastinums Pathology (process)|Respiratory tract disease Mediastinal Fibrosis MESH:C536136 MESH:D008480|MESH:D012598 C08.846.187.790/C536136|C23.550.823/C536136 C08.846.187.790|C23.550.823 Fibrosing mediastinitis|Idiopathic mediastinal fibrosis|Sclerosing mediastinitis Pathology (process)|Respiratory tract disease Mediastinal Neoplasms MESH:D008479 DO:DOID:5559 Tumors or cancer of the MEDIASTINUM. MESH:D008477|MESH:D013899 C04.588.894.479|C08.846.187.580 C04.588.894|C08.846.187 Cancer, Mediastinal|Cancer, Mediastinum|Cancer of Mediastinum|Cancer of the Mediastinum|Cancers, Mediastinal|Cancers, Mediastinum|Mediastinal Cancer|Mediastinal Cancers|Mediastinal Neoplasm|Mediastinum Cancer|Mediastinum Cancers|Mediastinum Neoplasm|Mediastinum Neoplasms|Neoplasm, Mediastinal|Neoplasm, Mediastinum|Neoplasms, Mediastinal|Neoplasms, Mediastinum Cancer|Respiratory tract disease Mediastinitis MESH:D008480 DO:DOID:819 Inflammation of the mediastinum, the area between the pleural sacs. MESH:D008477 C08.846.187.790 C08.846.187 Inflammation, Mediastinum|Inflammations, Mediastinum|Mediastinitides|Mediastinum Inflammation|Mediastinum Inflammations Respiratory tract disease Medically Unexplained Symptoms MESH:D000071896 Persistent health symptoms which remain unexplained after a complete medical evaluation. A cluster of symptoms that consistently appear together but without a known cause are referred to as a MEDICALLY UNEXPLAINED SYNDROME (MUS). MESH:D012816 C23.888.541 C23.888 Medically Unexplained Symptom|Somatic Symptom|Somatic Symptoms|Symptom, Medically Unexplained|Symptoms, Medically Unexplained|Symptom, Somatic|Symptoms, Somatic|Unexplained Symptom, Medically|Unexplained Symptoms, Medically Signs and symptoms Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency MESH:C566566 MESH:D008661|MESH:D028361 C16.320.565/C566566|C18.452.648/C566566|C18.452.660/C566566 C16.320.565|C18.452.648|C18.452.660 Genetic disease (inborn)|Metabolic disease Medium chain acyl CoA dehydrogenase deficiency MESH:C536038 DO:DOID:0080153|OMIM:201450 MESH:D008052 C16.320.565.398/C536038|C18.452.584.563/C536038|C18.452.648.398/C536038 C16.320.565.398|C18.452.584.563|C18.452.648.398 ACADMD|ACADM Deficiency|Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of|Acyl-CoA dehydrogenase, medium chain, deficiency of|Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency|MCAD Deficiency|MCADH Deficiency|Medium-chain Acyl-CoA dehydrogenase deficiency|Medium Chain Acyl-Coa Dehydrogenase Deficiency|Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Genetic disease (inborn)|Metabolic disease Medullary cystic kidney disease 1 MESH:C536137 OMIM:174000 MESH:D016891 C12.050.351.968.419.403.875.500/C536137|C12.200.777.419.403.875.500/C536137|C12.950.419.403.875.500/C536137|C16.131.077.717.500/C536137|C16.320.184.625.500/C536137 C12.050.351.968.419.403.875.500|C12.200.777.419.403.875.500|C12.950.419.403.875.500|C16.131.077.717.500|C16.320.184.625.500 ADMCKD1|ADTKD2|MCKD|MCKD1|MCKD1 Medullary cystic kidney disease 1|MEDULLARY CYSTIC KIDNEY DISEASE 1|Medullary cystic kidney disease, autosomal dominant|Polycystic kidneys, medullary type|TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Medullary Cystic Kidney Disease 2 MESH:C548033 MESH:D016891 C12.050.351.968.419.403.875.500/C548033|C12.200.777.419.403.875.500/C548033|C12.950.419.403.875.500/C548033|C16.131.077.717.500/C548033|C16.320.184.625.500/C548033 C12.050.351.968.419.403.875.500|C12.200.777.419.403.875.500|C12.950.419.403.875.500|C16.131.077.717.500|C16.320.184.625.500 ADMCKD2|Medullary Cystic Kidney Disease 2, Autosomal Dominant Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Medullary Sponge Kidney MESH:D007691 A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should be distinguished from congenital or hereditary POLYCYSTIC KIDNEY DISEASES. MESH:D052177 C12.050.351.968.419.403.500|C12.200.777.419.403.500|C12.950.419.403.500 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 Cacchi Ricci Disease|Cacchi Ricci Syndrome|Cacchi-Ricci Syndrome|Canalicular Ectasia, Precalyceal|Canalicular Ectasias, Precalyceal|Disease, Cacchi Ricci|Ectasia, Precalyceal Canalicular|Ectasias, Precalyceal Canalicular|Kidney, Sponge|Kidneys, Sponge|Medullary Sponge Kidneys|Precalyceal Canalicular Ectasia|Precalyceal Canalicular Ectasias|Ricci Disease, Cacchi|Sponge Kidney|Sponge Kidney, Medullary|Sponge Kidneys|Sponge Kidneys, Medullary|Syndrome, Cacchi-Ricci Urogenital disease (female)|Urogenital disease (male) Medulloblastoma MESH:D008527 DO:DOID:0050902|DO:DOID:3861|DO:DOID:3864|DO:DOID:3868|DO:DOID:3869|OMIM:155255 A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1) MESH:D005910|MESH:D018242 C04.557.465.625.600.380.515|C04.557.465.625.600.590.500|C04.557.470.670.380.515|C04.557.470.670.590.500|C04.557.580.625.600.380.515|C04.557.580.625.600.590.500 C04.557.465.625.600.380|C04.557.465.625.600.590|C04.557.470.670.380|C04.557.470.670.590|C04.557.580.625.600.380|C04.557.580.625.600.590 Adult Medulloblastoma|Adult Medulloblastomas|Arachnoidal Cerebellar Sarcoma, Circumscribed|Childhood Medulloblastoma|Childhood Medulloblastomas|Desmoplastic Medulloblastoma|Desmoplastic Medulloblastomas|MDB|Medulloblastoma, Adult|Medulloblastoma, Childhood|Medulloblastoma, Desmoplastic|Medulloblastoma, Melanocytic|MEDULLOBLASTOMA PREDISPOSITION SYNDROME|Medulloblastomas|Medulloblastomas, Adult|Medulloblastomas, Childhood|Medulloblastomas, Desmoplastic|Medulloblastomas, Melanocytic|Medullomyoblastoma|Medullomyoblastomas|Melanocytic Medulloblastoma|Melanocytic Medulloblastomas|Sarcoma, Cerebellar, Circumscribed Arachnoidal Cancer MEESTER-LOEYS SYNDROME OMIM:300989 DO:DOID:0111861 MESH:D000784|MESH:D017545 C14.907.055.239.125/300989|C14.907.055.448.250/300989|C14.907.109.070.500/300989|C14.907.109.139.125/300989 C14.907.055.239.125|C14.907.055.448.250|C14.907.109.070.500|C14.907.109.139.125 MRLS Cardiovascular disease Megacolon MESH:D008531 DO:DOID:11372 Dilatation of the COLON, often to alarming dimensions. There are various types of megacolon including congenital megacolon in HIRSCHSPRUNG DISEASE, idiopathic megacolon in CONSTIPATION, and TOXIC MEGACOLON. MESH:D003108 C06.405.469.158.701 C06.405.469.158 Megacolons Digestive system disease Megacolon, Toxic MESH:D008532 DO:DOID:1770 An acute form of MEGACOLON, severe pathological dilatation of the COLON. It is associated with clinical conditions such as ULCERATIVE COLITIS; CROHN DISEASE; AMEBIC DYSENTERY; or CLOSTRIDIUM ENTEROCOLITIS. MESH:D008531 C06.405.469.158.701.591 C06.405.469.158.701 Toxic Megacolon Digestive system disease Megacystis microcolon intestinal hypoperistalsis syndrome MESH:C536138 DO:DOID:0060610 MESH:D000015|MESH:D007418 C06.405.469.531.492.500/C536138|C16.131.077/C536138 C06.405.469.531.492.500|C16.131.077 Berdon syndrome|Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome|MMIHS Megacystis microcolon intestinal hypoperistalsis syndrome|MMIH syndrome Congenital abnormality|Digestive system disease Megaduodenum MESH:C536139 MESH:D005315 C12.050.703.277/C536139|C16.300/C536139 C12.050.703.277|C16.300 Fetal megacystis|Megacystis Fetal disease|Pregnancy complication Megaduodenum and-or Megacystis MESH:C563597 MESH:D007418 C06.405.469.531.492.500/C563597 C06.405.469.531.492.500 Digestive system disease Megaepiphyseal dwarfism MESH:C536140 MESH:D004392|MESH:D010009 C05.116.099.343/C536140|C05.116.099.708/C536140|C16.320.240/C536140|C16.320.728/C536140|C19.297/C536140 C05.116.099.343|C05.116.099.708|C16.320.240|C16.320.728|C19.297 Chondrodystrophy with Sensorineural Deafness|Insley-Astley syndrome|Mega-epiphyseal dwarfism|Nance-Insley syndrome|Nance Sweeney chondrodysplasia|Nance-Sweeney Chondrodysplasia|Otospondylomegaepiphyseal dysplasia|Oto-Spondylo-Megaepiphyseal Dysplasia|Oto-Spondylo-Mega-Epiphyseal Dysplasia Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome MESH:C566381 OMIM:603387|OMIM:615937|OMIM:615938 MESH:D006849|MESH:D017689|MESH:D054220 C05.660.585.600/C566381|C10.228.140.602/C566381|C10.500.507/C566381|C16.131.621.585.600/C566381|C16.131.666.507/C566381 C05.660.585.600|C10.228.140.602|C10.500.507|C16.131.621.585.600|C16.131.666.507 Megalencephaly, Mega Corpus Callosum, And Complete Lack Of Motor Development|Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome|MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1|MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2|MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3|Meg-Pmg-Megacc Syndrome|MPPH|MPPH1|MPPH2|MPPH3 Congenital abnormality|Musculoskeletal disease|Nervous system disease Megalencephalic leukoencephalopathy with subcortical cysts MESH:C536141 DO:DOID:0080315|DO:DOID:0080316|OMIM:604004|OMIM:613925 MESH:D003560|MESH:D020279 C04.182/C536141|C10.228.140.163.100.362/C536141|C10.228.140.695.625/C536141|C10.314.400/C536141|C10.574.500.490/C536141|C16.320.400.367/C536141|C16.320.565.189.362/C536141|C18.452.132.100.362/C536141|C18.452.648.189.362/C536141|C23.300.306/C536141 C04.182|C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362|C23.300.306 Infantile Leukoencephalopathy and Megalencephaly|Leukoencephalopathy with Swelling and A Discrepantly Mild Course|Leukoencephalopathy with swelling and cysts|LVM|MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1|MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A|Megalencephaly-cystic leukodystrophy|MLC1|MLC2A|Vacuolating Leukoencephalopathy|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|VAN DER KNAAP DISEASE|Van Der Knapp Disease|VL Cancer|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (anatomical condition) MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT OMIM:613926 DO:DOID:0080317 MESH:C536141|MESH:D008607 C04.182/C536141/613926|C10.228.140.163.100.362/C536141/613926|C10.228.140.695.625/C536141/613926|C10.314.400/C536141/613926|C10.574.500.490/C536141/613926|C10.597.606.360/613926|C16.320.400.367/C536141/613926|C16.320.565.189.362/C536141/613926|C18.452.132.100.362/C536141/613926|C18.452.648.189.362/C536141/613926|C23.300.306/C536141/613926|C23.888.592.604.646/613926|F03.625.539/613926 C04.182/C536141|C10.228.140.163.100.362/C536141|C10.228.140.695.625/C536141|C10.314.400/C536141|C10.574.500.490/C536141|C10.597.606.360|C16.320.400.367/C536141|C16.320.565.189.362/C536141|C18.452.132.100.362/C536141|C18.452.648.189.362/C536141|C23.300.306/C536141|C23.888.592.604.646|F03.625.539 MLC2B Cancer|Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Megalencephaly MESH:D058627 A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME). MESH:D019465|MESH:D065703 C05.660.207.536|C10.500.507.400.249|C16.131.621.207.532|C16.131.666.507.400.249 C05.660.207|C10.500.507.400|C16.131.621.207|C16.131.666.507.400 Macrocephalies|Macrocephaly|Megacephalies|Megacephaly|Megalencephalies|Megalocephalies|Megalocephaly Congenital abnormality|Musculoskeletal disease|Nervous system disease Megalencephaly cutis marmorata telangiectatica congenita MESH:C536142 MESH:D000015|MESH:D013684|MESH:D017445|MESH:D058627 C05.660.207.536/C536142|C10.500.507.400.249/C536142|C14.907.823/C536142|C16.131.077/C536142|C16.131.621.207.532/C536142|C16.131.666.507.400.249/C536142|C17.800.862/C536142 C05.660.207.536|C10.500.507.400.249|C14.907.823|C16.131.077|C16.131.621.207.532|C16.131.666.507.400.249|C17.800.862 Macrocephaly-Capillary Malformation|Macrocephaly cutis marmorata telangiectatica congenita|Macrocephaly-Cutis Marmorata Telangiectatica Congenita|Megalencephaly-Cutis Marmorata Telangiectatica Congenita|Megalocephaly cutis marmorata telangiectatica congenita Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease|Skin disease Megalencephaly with Dysmyelination MESH:C565408 MESH:D020279|MESH:D058627 C05.660.207.536/C565408|C10.228.140.163.100.362/C565408|C10.228.140.695.625/C565408|C10.314.400/C565408|C10.500.507.400.249/C565408|C10.574.500.490/C565408|C16.131.621.207.532/C565408|C16.131.666.507.400.249/C565408|C16.320.400.367/C565408|C16.320.565.189.362/C565408|C18.452.132.100.362/C565408|C18.452.648.189.362/C565408 C05.660.207.536|C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.500.507.400.249|C10.574.500.490|C16.131.621.207.532|C16.131.666.507.400.249|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 Megalencephaly with Diffuse White Matter Hypodensity Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency MESH:C565095 OMIM:613839 MESH:D000749 C15.378.071.252.196/C565095 C15.378.071.252.196 DHFR Deficiency Blood disease Megalocornea MESH:C562829 OMIM:309300 MESH:D015785|MESH:D040181 C11.270/C562829|C16.320.290/C562829|C16.320.322/C562829 C11.270|C16.320.290|C16.320.322 MGC1|MGCN Eye disease|Genetic disease (inborn) Megalocytic interstitial nephritis MESH:C536144 MESH:D009395 C12.050.351.968.419.570.643/C536144|C12.200.777.419.570.643/C536144|C12.950.419.570.643/C536144 C12.050.351.968.419.570.643|C12.200.777.419.570.643|C12.950.419.570.643 Interstitial megalocytic nephritis|Transplant megalocytic interstitial nephritis (type) Urogenital disease (female)|Urogenital disease (male) Megalodactyly MESH:C562546 MESH:D017880 C05.660.585/C562546|C16.131.621.585/C562546 C05.660.585|C16.131.621.585 Macrodactyly Congenital abnormality|Musculoskeletal disease Megarbane Jalkh Syndrome MESH:C548071 MESH:D000015 C16.131.077/C548071 C16.131.077 Developmental Delay, Dysmorphic Features, Neonatal Spontaneous Fractures, Wrinkled Skin, And Hepatic Failure|Megarbane-Jalkh Syndrome Congenital abnormality Megarbane syndrome MESH:C536145 MESH:D000015|MESH:D006130|MESH:D006547|MESH:D007593|MESH:D011596 C05.550.521/C536145|C10.597.606.881/C536145|C16.131.077/C536145|C23.300.707/C536145|C23.550.393/C536145|C23.888.592.604.882/C536145 C05.550.521|C10.597.606.881|C16.131.077|C23.300.707|C23.550.393|C23.888.592.604.882 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms Mehes syndrome MESH:C536146 MESH:D000015|MESH:D005146|MESH:D007805|MESH:D013285 C10.292.562.887/C536146|C10.597.606.150.500.550/C536146|C11.590.810/C536146|C16.131.077/C536146|C23.300.505/C536146|C23.888.592.604.150.500.550/C536146 C10.292.562.887|C10.597.606.150.500.550|C11.590.810|C16.131.077|C23.300.505|C23.888.592.604.150.500.550 Congenital abnormality|Eye disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms MEHMO syndrome MESH:C537451 DO:DOID:0060801|OMIM:300148 MESH:D004827|MESH:D007006|MESH:D008831|MESH:D009765|MESH:D038901 C05.660.207.620/C537451|C10.228.140.490/C537451|C10.500.507.400.500/C537451|C10.597.606.360.455/C537451|C16.131.621.207.620/C537451|C16.131.666.507.400.500/C537451|C16.320.322.500/C537451|C16.320.400.525/C537451|C18.654.726.750.500/C537451|C19.391.482/C537451|C23.888.144.699.500/C537451 C05.660.207.620|C10.228.140.490|C10.500.507.400.500|C10.597.606.360.455|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.322.500|C16.320.400.525|C18.654.726.750.500|C19.391.482|C23.888.144.699.500 MEHMO|Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity|MENTAL RETARDATION, X-LINKED, SYNDROMIC 20|MENTAL RETARDATION, X-LINKED, SYNDROMIC 25|MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE|MRXS20|MRXS25|MRXSBRK|X-linked MEHMO syndrome Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Nutrition disorder|Signs and symptoms Mehta Lewis Patton syndrome MESH:C536147 MESH:D000848|MESH:D001763|MESH:D003398|MESH:D006330 C05.116.099.370.894.232/C536147|C05.660.207.240/C536147|C05.660.906.364/C536147|C07.650.800.100/C536147|C07.793.700.100/C536147|C11.338.204/C536147|C14.240.400/C536147|C14.280.400/C536147|C16.131.240.400/C536147|C16.131.621.207.240/C536147|C16.131.621.906.364/C536147|C16.131.850.800.100/C536147 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C07.650.800.100|C07.793.700.100|C11.338.204|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.240|C16.131.621.906.364|C16.131.850.800.100 Congenital heart disease, ptosis, hypodontia, and craniosynostosis Cardiovascular disease|Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Meibomian Gland Dysfunction MESH:D000080343 A chronic dysfunction of MEIBOMIAN GLANDS characterized by altered tear film stability and function due to a decrease or alteration in lipid quality/content in meibum. It is often associated with evaporative-type DRY EYE SYNDROME. MESH:D005141 C11.338.780 C11.338 Dysfunction, Meibomian Gland|Meibomian Gland Dysfunctions|MG Dysfunction|MG Dysfunctions Eye disease Meibomitis MESH:D000092663 An inflammation of MEIBOMIAN GLANDS. MESH:D001762 C11.338.133.500 C11.338.133 Meibomianitis Eye disease Meier Blumberg Imahorn syndrome MESH:C536148 DO:DOID:0060881 MESH:D002128|MESH:D009800 C10.228.140.163.100.640/C536148|C12.050.351.968.419.815.720/C536148|C12.200.777.419.815.720/C536148|C12.950.419.815.720/C536148|C16.131.077.662/C536148|C16.320.322.750/C536148|C16.320.565.151.600/C536148|C16.320.565.189.640/C536148|C16.320.709/C536148|C16.320.831.750/C536148|C18.452.132.100.640/C536148|C18.452.174/C536148|C18.452.648.151.600/C536148|C18.452.648.189.640/C536148 C10.228.140.163.100.640|C12.050.351.968.419.815.720|C12.200.777.419.815.720|C12.950.419.815.720|C16.131.077.662|C16.320.322.750|C16.320.565.151.600|C16.320.565.189.640|C16.320.709|C16.320.831.750|C18.452.132.100.640|C18.452.174|C18.452.648.151.600|C18.452.648.189.640 Idiopathic hypercalciuria with bilateral macular colobomata Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Meier-Gorlin syndrome MESH:C538012 DO:DOID:0060306|OMIM:224690|OMIM:613800|OMIM:613803|OMIM:613804|OMIM:613805|OMIM:616835|OMIM:617063 MESH:D006130|MESH:D008844|MESH:D065817 C05.500.460.457/C538012|C05.660.207.540.460.457/C538012|C07.320.440.457/C538012|C07.650.500.460.457/C538012|C09.218.235/C538012|C16.131.287/C538012|C16.131.621.207.540.460.457/C538012|C16.131.850.500.460.457/C538012|C23.550.393/C538012 C05.500.460.457|C05.660.207.540.460.457|C07.320.440.457|C07.650.500.460.457|C09.218.235|C16.131.287|C16.131.621.207.540.460.457|C16.131.850.500.460.457|C23.550.393 Ear, patella, short stature syndrome|EPS|MEIER-GORLIN SYNDROME|MEIER-GORLIN SYNDROME 1|MEIER-GORLIN SYNDROME 2|MEIER-GORLIN SYNDROME 3|MEIER-GORLIN SYNDROME 4|MEIER-GORLIN SYNDROME 5|MEIER-GORLIN SYNDROME 6|MEIER-GORLIN SYNDROME 7|MGORS1|MGORS2|MGORS3|MGORS4|MGORS5|MGORS6|MGORS7|Microtia, absent patellae, micrognathia syndrome Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease|Pathology (process) Meige Syndrome MESH:D008538 DO:DOID:3982 A syndrome characterized by orofacial DYSTONIA; including BLEPHAROSPASM; forceful jaw opening; lip retraction; platysma muscle spasm; and tongue protrusion. It primarily affects older adults, with an incidence peak in the seventh decade of life. (From Adams et al., Principles of Neurology, 6th ed, p108) MESH:D001480|MESH:D020821 C10.228.140.079.590|C10.228.662.300.500 C10.228.140.079|C10.228.662.300 Blepharospasm Oromandibular Dyskinesia|Blepharospasm-Oromandibular Dyskinesia|Blepharospasm-Oromandibular Dyskinesias|Blepharospasm Oromandibular Dystonia|Blepharospasm-Oromandibular Dystonia|Blepharospasm-Oromandibular Dystonias|Blepharospasm Oromandibular Dystonia Syndrome|Blepharospasm-Oromandibular Dystonia Syndrome|Blepharospasm Oromandibular Dystonia Syndrome, Idiopathic|Blepharospasm-Oromandibular Dystonia Syndrome, Idiopathic|Blepharospasm-Oromandibular Dystonia Syndromes|Brueghel Syndrome|Dyskinesia, Blepharospasm-Oromandibular|Dyskinesia, Idiopathic Orofacial|Dyskinesias, Blepharospasm-Oromandibular|Dyskinesias, Idiopathic Orofacial|Dystonia, Blepharospasm-Oromandibular|Dystonias, Blepharospasm-Oromandibular|Dystonia Syndrome, Blepharospasm-Oromandibular|Dystonia Syndromes, Blepharospasm-Oromandibular|Idiopathic Blepharospasm Oromandibular Dystonia Syndrome|Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome|Idiopathic Orofacial Dyskinesia|Idiopathic Orofacial Dyskinesias|Orofacial Dyskinesia, Idiopathic|Orofacial Dyskinesias, Idiopathic|Syndrome, Blepharospasm-Oromandibular Dystonia Nervous system disease Meigs Syndrome MESH:D008539 The triad of benign FIBROMA or other ovarian tumors with ASCITES, and HYDROTHORAX due to large PLEURAL EFFUSIONS. MESH:D010051 C04.588.322.455.531|C12.050.351.500.056.630.705.531|C12.050.351.937.418.685.531|C12.100.250.056.630.705.531|C12.900.418.685.531|C19.344.410.531|C19.391.630.705.531 C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C19.344.410|C19.391.630.705 Meig's Syndrome|Meigs' Syndrome|Meig Syndrome Cancer|Endocrine system disease|Urogenital disease (female) Melanocytic nevus syndrome, congenital MESH:C536819 DO:DOID:0111359|OMIM:137550 MESH:D009508|MESH:D012878 C04.557.665.560.615/C536819|C04.588.805/C536819|C17.800.882/C536819 C04.557.665.560.615|C04.588.805|C17.800.882 CMNS|Giant congenital pigmented nevus|Giant pigmented hairy nevus|GPHN|PIGMENTED MOLES NEVUS SPILUS, INCLUDED|SPITZ NEVUS, INCLUDED Cancer|Skin disease Melanoma MESH:D008545 DO:DOID:1909 A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445) MESH:D018326|MESH:D018358 C04.557.465.625.650.510|C04.557.580.625.650.510|C04.557.665.510 C04.557.465.625.650|C04.557.580.625.650|C04.557.665 Malignant Melanoma|Malignant Melanomas|Melanoma, Malignant|Melanomas|Melanomas, Malignant Cancer Melanoma, Amelanotic MESH:D018328 DO:DOID:4359 An unpigmented malignant melanoma. It is an anaplastic melanoma consisting of cells derived from melanoblasts but not forming melanin. (Dorland, 27th ed; Stedman, 25th ed) MESH:D008545 C04.557.465.625.650.510.515|C04.557.580.625.650.510.515|C04.557.665.510.515 C04.557.465.625.650.510|C04.557.580.625.650.510|C04.557.665.510 Amelanotic Melanoma|Amelanotic Melanomas|Melanomas, Amelanotic Cancer Melanoma astrocytoma syndrome MESH:C536149 DO:DOID:0111511|OMIM:155755 MESH:D001254|MESH:D008545|MESH:D009423 C04.557.465.625.600.380.080/C536149|C04.557.465.625.650.510/C536149|C04.557.470.670.380.080/C536149|C04.557.580.625.600.380.080/C536149|C04.557.580.625.650.510/C536149|C04.557.665.510/C536149|C04.588.614/C536149|C10.551/C536149 C04.557.465.625.600.380.080|C04.557.465.625.650.510|C04.557.470.670.380.080|C04.557.580.625.600.380.080|C04.557.580.625.650.510|C04.557.665.510|C04.588.614|C10.551 Cutaneous malignant melanoma and cerebral astrocytoma|Melanoma and neural system tumor syndrome|Melanoma-Astrocytoma Syndrome Cancer|Nervous system disease Melanoma, Cutaneous Malignant MESH:C562393 DO:DOID:8923 MESH:D008545|MESH:D012878 C04.557.465.625.650.510/C562393|C04.557.580.625.650.510/C562393|C04.557.665.510/C562393|C04.588.805/C562393|C17.800.882/C562393 C04.557.465.625.650.510|C04.557.580.625.650.510|C04.557.665.510|C04.588.805|C17.800.882 Dysplastic Nevus Syndrome, Hereditary|Familial Atypical Mole-Malignant Melanoma Syndrome|Famm|Melanoma, Familial Cancer|Skin disease MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 OMIM:155600 MESH:C562393|MESH:D012878 C04.557.465.625.650.510/C562393/155600|C04.557.580.625.650.510/C562393/155600|C04.557.665.510/C562393/155600|C04.588.805/155600|C04.588.805/C562393/155600|C17.800.882/155600|C17.800.882/C562393/155600 C04.557.465.625.650.510/C562393|C04.557.580.625.650.510/C562393|C04.557.665.510/C562393|C04.588.805|C04.588.805/C562393|C17.800.882|C17.800.882/C562393 B-K MOLE SYNDROME|CMM|CMM1|DNS|DYSPLASTIC NEVUS SYNDROME, HEREDITARY|FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME|FAMMM|MELANOMA, CUTANEOUS MALIGNANT|MELANOMA, FAMILIAL|MELANOMA, MALIGNANT|MLM Cancer|Skin disease MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 OMIM:155601 MESH:C562393|MESH:D012878 C04.557.465.625.650.510/C562393/155601|C04.557.580.625.650.510/C562393/155601|C04.557.665.510/C562393/155601|C04.588.805/155601|C04.588.805/C562393/155601|C17.800.882/155601|C17.800.882/C562393/155601 C04.557.465.625.650.510/C562393|C04.557.580.625.650.510/C562393|C04.557.665.510/C562393|C04.588.805|C04.588.805/C562393|C17.800.882|C17.800.882/C562393 CMM2 Cancer|Skin disease MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 OMIM:609048 MESH:C562393|MESH:D012878 C04.557.465.625.650.510/C562393/609048|C04.557.580.625.650.510/C562393/609048|C04.557.665.510/C562393/609048|C04.588.805/609048|C04.588.805/C562393/609048|C17.800.882/609048|C17.800.882/C562393/609048 C04.557.465.625.650.510/C562393|C04.557.580.625.650.510/C562393|C04.557.665.510/C562393|C04.588.805|C04.588.805/C562393|C17.800.882|C17.800.882/C562393 CMM3 Cancer|Skin disease MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 OMIM:608035 DO:DOID:8923 MESH:C562393|MESH:D012878 C04.557.465.625.650.510/C562393/608035|C04.557.580.625.650.510/C562393/608035|C04.557.665.510/C562393/608035|C04.588.805/608035|C04.588.805/C562393/608035|C17.800.882/608035|C17.800.882/C562393/608035 C04.557.465.625.650.510/C562393|C04.557.580.625.650.510/C562393|C04.557.665.510/C562393|C04.588.805|C04.588.805/C562393|C17.800.882|C17.800.882/C562393 CMM4 Cancer|Skin disease MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 OMIM:613099 MESH:C562393|MESH:D012878 C04.557.465.625.650.510/C562393/613099|C04.557.580.625.650.510/C562393/613099|C04.557.665.510/C562393/613099|C04.588.805/613099|C04.588.805/C562393/613099|C17.800.882/613099|C17.800.882/C562393/613099 C04.557.465.625.650.510/C562393|C04.557.580.625.650.510/C562393|C04.557.665.510/C562393|C04.588.805|C04.588.805/C562393|C17.800.882|C17.800.882/C562393 CMM5 Cancer|Skin disease MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 OMIM:613972 MESH:C562393|MESH:D012878 C04.557.465.625.650.510/C562393/613972|C04.557.580.625.650.510/C562393/613972|C04.557.665.510/C562393/613972|C04.588.805/613972|C04.588.805/C562393/613972|C17.800.882/613972|C17.800.882/C562393/613972 C04.557.465.625.650.510/C562393|C04.557.580.625.650.510/C562393|C04.557.665.510/C562393|C04.588.805|C04.588.805/C562393|C17.800.882|C17.800.882/C562393 CMM6 Cancer|Skin disease MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 OMIM:612263 DO:DOID:8923 MESH:C562393|MESH:D012878 C04.557.465.625.650.510/C562393/612263|C04.557.580.625.650.510/C562393/612263|C04.557.665.510/C562393/612263|C04.588.805/612263|C04.588.805/C562393/612263|C17.800.882/612263|C17.800.882/C562393/612263 C04.557.465.625.650.510/C562393|C04.557.580.625.650.510/C562393|C04.557.665.510/C562393|C04.588.805|C04.588.805/C562393|C17.800.882|C17.800.882/C562393 CMM7 Cancer|Skin disease MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 OMIM:614456 MESH:C562393|MESH:D012878 C04.557.465.625.650.510/C562393/614456|C04.557.580.625.650.510/C562393/614456|C04.557.665.510/C562393/614456|C04.588.805/614456|C04.588.805/C562393/614456|C17.800.882/614456|C17.800.882/C562393/614456 C04.557.465.625.650.510/C562393|C04.557.580.625.650.510/C562393|C04.557.665.510/C562393|C04.588.805|C04.588.805/C562393|C17.800.882|C17.800.882/C562393 CMM8|MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO Cancer|Skin disease MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 OMIM:615134 MESH:C562393|MESH:D012878 C04.557.465.625.650.510/C562393/615134|C04.557.580.625.650.510/C562393/615134|C04.557.665.510/C562393/615134|C04.588.805/615134|C04.588.805/C562393/615134|C17.800.882/615134|C17.800.882/C562393/615134 C04.557.465.625.650.510/C562393|C04.557.580.625.650.510/C562393|C04.557.665.510/C562393|C04.588.805|C04.588.805/C562393|C17.800.882|C17.800.882/C562393 CMM9 Cancer|Skin disease Melanoma, Experimental MESH:D008546 Experimentally induced tumor that produces MELANIN in animals to provide a model for studying human MELANOMA. MESH:D008545|MESH:D009374 C04.557.465.625.650.510.525|C04.557.580.625.650.510.525|C04.557.665.510.525|C04.619.600 C04.557.465.625.650.510|C04.557.580.625.650.510|C04.557.665.510|C04.619 B16 Melanoma|B16 Melanomas|Cloudman S91 Melanoma|Experimental Melanoma|Experimental Melanomas|Harding Passey Melanoma|Harding-Passey Melanoma|Melanoma, B16|Melanoma, Cloudman S91|Melanoma, Harding Passey|Melanoma, Harding-Passey|Melanomas, B16|Melanomas, Experimental|S91 Melanoma, Cloudman Cancer Melanoma, Malignant Familial Intraocular MESH:C563596 MESH:D005134|MESH:D008545 C04.557.465.625.650.510/C563596|C04.557.580.625.650.510/C563596|C04.557.665.510/C563596|C04.588.364/C563596|C11.319/C563596 C04.557.465.625.650.510|C04.557.580.625.650.510|C04.557.665.510|C04.588.364|C11.319 Cancer|Eye disease Melanoma-Pancreatic Cancer Syndrome MESH:C563985 OMIM:606719 MESH:D008545|MESH:D009386|MESH:D010190 C04.557.465.625.650.510/C563985|C04.557.580.625.650.510/C563985|C04.557.665.510/C563985|C04.588.274.761/C563985|C04.588.322.475/C563985|C04.700/C563985|C06.301.761/C563985|C06.689.667/C563985|C16.320.700/C563985|C19.344.421/C563985 C04.557.465.625.650.510|C04.557.580.625.650.510|C04.557.665.510|C04.588.274.761|C04.588.322.475|C04.700|C06.301.761|C06.689.667|C16.320.700|C19.344.421 Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome|FAMMMPC|FAMMMPC Syndrome Cancer|Digestive system disease|Endocrine system disease|Genetic disease (inborn) Melanosis MESH:D008548 Disorders of increased melanin pigmentation that develop without preceding inflammatory disease. MESH:D017495 C17.800.621.430.530 C17.800.621.430 Chloasma|Chloasmas|Freckle|Freckles|Melanism|Melanoses|Melasma|Melasmas Skin disease Melanosis, Universal MESH:C563594 MESH:D017495 C17.800.621.430/C563594 C17.800.621.430 Skin disease MELAS Syndrome MESH:D017241 DO:DOID:3687|OMIM:540000 A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117) MESH:D017237|MESH:D020739|MESH:D059345 C05.651.460.620.520|C10.228.140.163.100.535|C10.228.140.300.275.500|C10.668.491.500.500.500|C14.907.253.329.500|C16.320.565.189.535|C18.452.132.100.535|C18.452.648.189.535|C18.452.660.560.620.520 C05.651.460.620|C10.228.140.163.100|C10.228.140.300.275|C10.668.491.500.500|C14.907.253.329|C16.320.565.189|C18.452.132.100|C18.452.648.189|C18.452.660.560.620 MELAS|MELAS SYNDROME|Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes|Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes|Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode|Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke|Syndrome, MELAS Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Melena MESH:D008551 The black, tarry, foul-smelling FECES that contain degraded blood. MESH:D006471 C06.405.227.600|C23.550.414.788.600 C06.405.227|C23.550.414.788 Melenas Digestive system disease|Pathology (process) Melhem Fahl syndrome MESH:C537238 MESH:D000015 C16.131.077/C537238 C16.131.077 Fifteen dorsal vertebrae and rib pairs Congenital abnormality Melioidosis MESH:D008554 DO:DOID:5052|OMIM:615557 A disease of humans and animals that resembles GLANDERS. It is caused by BURKHOLDERIA PSEUDOMALLEI and may range from a dormant infection to a condition that causes multiple abscesses, pneumonia, and bacteremia. MESH:D019121 C01.150.252.400.170.531 C01.150.252.400.170 Burkholderia pseudomallei Infection|Burkholderia pseudomallei Infections|Infection, Burkholderia pseudomallei|Infections, Burkholderia pseudomallei|Melioidoses|MELIOIDOSIS, RESISTANCE TO, INCLUDED|MELIOIDOSIS, SUSCEPTIBILITY TO Bacterial infection or mycosis Melkersson-Rosenthal Syndrome MESH:D008556 DO:DOID:1761|OMIM:155900 An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531) MESH:D005155|MESH:D009059 C07.465.299.800|C07.465.466|C10.292.319.800 C07.465|C07.465.299|C10.292.319 Cheilitis Granulomatosa|Cheilitis Granulomatosa, Facial Neuropathy, Orofacial Edema|Cheilitis Granulomatosa, Orofacial Edema, Facial Neuropathy|Cheilitis, Miescher-Melkersson-Rosenthal Granulomatous|Facial Neuropathy, Cheilitis Granulomatosa, Orofacial Edema|Facial Neuropathy, Orofacial Edema, Cheilitis Granulomatosa|Granulomatous Cheilitis|Granulomatous Cheilitis, Miescher-Melkersson-Rosenthal|Macrocheilia, Facial Palsy, Edema|Melkerson Rosenthal Syndrome|Melkerson-Rosenthal Syndrome|Melkersson Rosenthal Miescher Syndrome|Melkersson-Rosenthal-Miescher Syndrome|Melkersson Rosenthal Syndrome|Melkersson Syndrome|Miescher Melkersson Rosenthal Granulomatous Cheilitis|Miescher-Melkersson-Rosenthal Granulomatous Cheilitis|MROS|MRS|Orofacial Edema, Cheilitis Granulomatosa, Facial Neuropathy|Orofacial Edema, Facial Neuropathy, Cheilitis Granulomatosa|Rosenthal Melkerson Syndrome|Rosenthal-Melkerson Syndrome|Rosenthal Melkersson Syndrome|Rosenthal-Melkersson Syndrome|Syndrome, Melkerson Rosenthal Mouth disease|Nervous system disease Melorheostosis MESH:D008557 DO:DOID:4253|OMIM:155950 A form of osteosclerosis extending in a linear track mainly through one of the long bones of the upper and lower limbs. MESH:D010026 C05.116.099.708.702.593 C05.116.099.708.702 MEL|Melorheostoses|MELORHEOSTOSIS, ISOLATED|Melorheostosis of Leri Musculoskeletal disease Melorheostosis with Osteopoikilosis MESH:C563593 MESH:D008557|MESH:D010023 C05.116.099.708.702.593/C563593|C05.116.099.708.702.685/C563593|C17.300.705/C563593 C05.116.099.708.702.593|C05.116.099.708.702.685|C17.300.705 Connective tissue disease|Musculoskeletal disease Membranoproliferative Glomerulonephritis, X-Linked MESH:C564423 OMIM:305800 MESH:D015432|MESH:D040181 C12.050.351.968.419.570.363.615/C564423|C12.200.777.419.570.363.615/C564423|C12.950.419.570.363.615/C564423|C16.320.322/C564423|C20.425/C564423 C12.050.351.968.419.570.363.615|C12.200.777.419.570.363.615|C12.950.419.570.363.615|C16.320.322|C20.425 Mesangiocapillary Glomerulonephritis, X-Linked Genetic disease (inborn)|Immune system disease|Urogenital disease (female)|Urogenital disease (male) Membranous Cranial Ossification, Delayed MESH:C563592 MESH:D001848 C05.116.099/C563592 C05.116.099 Musculoskeletal disease Membranous Obstruction of Inferior Vena Cava MESH:C563013 MESH:D006502 C06.552.347/C563013|C14.907.355.830.925.275/C563013 C06.552.347|C14.907.355.830.925.275 Cardiovascular disease|Digestive system disease Memory Disorders MESH:D008569 Disturbances in registering an impression, in the retention of an acquired impression, or in the recall of an impression. Memory impairments are associated with DEMENTIA; CRANIOCEREBRAL TRAUMA; ENCEPHALITIS; ALCOHOLISM (see also ALCOHOL AMNESTIC DISORDER); SCHIZOPHRENIA; and other conditions. MESH:D019954 C10.597.606.525|C23.888.592.604.529 C10.597.606|C23.888.592.604 Age-Related Memory Disorder|Age Related Memory Disorders|Age-Related Memory Disorders|Cognitive Retention Disorder|Cognitive Retention Disorders|Deficit, Memory|Deficits, Memory|Memory Deficit|Memory Deficits|Memory Disorder|Memory Disorder, Age-Related|Memory Disorders, Age Related|Memory Disorders, Age-Related|Memory Disorder, Semantic|Memory Disorder, Spatial|Memory Disorders, Semantic|Memory Disorders, Spatial|Memory Loss|Memory Losses|Retention Disorder, Cognitive|Retention Disorders, Cognitive|Semantic Memory Disorder|Semantic Memory Disorders|Spatial Memory Disorder|Spatial Memory Disorders Nervous system disease|Signs and symptoms MEND SYNDROME OMIM:300960 DO:DOID:0111865 MESH:D008607|MESH:D043202 C10.597.606.360/300960|C16.320.565.925/300960|C18.452.648.925/300960|C23.888.592.604.646/300960|F03.625.539/300960 C10.597.606.360|C16.320.565.925|C18.452.648.925|C23.888.592.604.646|F03.625.539 MALE EBP DISORDER WITH NEUROLOGIC DEFECTS|MEND Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Mengel Konigsmark syndrome MESH:C537239 MESH:D006314 C09.218.458.341.562/C537239|C10.597.751.418.341.562/C537239|C23.888.592.763.393.341.562/C537239 C09.218.458.341.562|C10.597.751.418.341.562|C23.888.592.763.393.341.562 Conductive hearing loss and malformed low-set ears|Ear deformity and conductive hearing loss|Familial congenital moderate neural hearing loss Ear-nose-throat disease|Nervous system disease|Signs and symptoms Meniere Disease MESH:D008575 DO:DOID:9849 A disease of the inner ear (LABYRINTH) that is characterized by fluctuating SENSORINEURAL HEARING LOSS; TINNITUS; episodic VERTIGO; and aural fullness. It is the most common form of endolymphatic hydrops. MESH:D018159 C09.218.568.217.500 C09.218.568.217 Auditory Vertigo|Auditory Vertigos|Aural Vertigo|Disease, Meniere|Disease, Ménière|Disease, Meniere's|Disease, Ménière's|Diseases, Ménière|Diseases, Ménière's|Ménière Disease|Ménière Diseases|Meniere's Disease|Menieres Disease|Ménière's Disease|Ménières Disease|Ménière's Diseases|Meniere's Syndrome|Menieres Syndrome|Ménière's Vertigo|Ménières Vertigo|Ménière's Vertigos|Meniere Syndrome|Ménière Vertigo|Otogenic Vertigo|Otogenic Vertigos|Syndrome, Meniere's|Vertigo, Auditory|Vertigo, Aural|Vertigo, Ménière's|Vertigo, Otogenic|Vertigos, Auditory|Vertigos, Ménière's|Vertigos, Otogenic Ear-nose-throat disease Meningeal Carcinomatosis MESH:D055756 Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation. MESH:D008577 C04.588.614.250.580.150|C10.551.240.500.150 C04.588.614.250.580|C10.551.240.500 Carcinomatoses, Leptomeningeal|Carcinomatoses, Meningeal|Carcinomatosis, Leptomeningeal|Carcinomatosis, Meningeal|Carcinomatous Meningitides|Carcinomatous Meningitis|Leptomeningeal Carcinomatoses|Leptomeningeal Carcinomatosis|Meningeal Carcinomatoses|Meningitides, Carcinomatous|Meningitis, Carcinomatous Cancer|Nervous system disease Meningeal Neoplasms MESH:D008577 Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord. MESH:D016543 C04.588.614.250.580|C10.551.240.500 C04.588.614.250|C10.551.240 Benign Meningeal Neoplasm|Benign Meningeal Neoplasms|Cancer, Meningeal|Cancers, Meningeal|Intracranial Meningeal Neoplasm|Intracranial Meningeal Neoplasms|Leptomeningeal Neoplasm|Leptomeningeal Neoplasms|Malignant Meningeal Neoplasm|Malignant Meningeal Neoplasms|Meningeal Cancer|Meningeal Cancers|Meningeal Neoplasm|Meningeal Neoplasm, Benign|Meningeal Neoplasm, Intracranial|Meningeal Neoplasm, Malignant|Meningeal Neoplasms, Benign|Meningeal Neoplasms, Intracranial|Meningeal Neoplasms, Malignant|Meningeal Neoplasm, Spinal|Meningeal Neoplasms, Spinal|Meningeal Tumor|Meningeal Tumors|Neoplasm, Benign Meningeal|Neoplasm, Intracranial Meningeal|Neoplasm, Leptomeningeal|Neoplasm, Malignant Meningeal|Neoplasm, Meningeal|Neoplasms, Benign Meningeal|Neoplasms, Intracranial Meningeal|Neoplasms, Leptomeningeal|Neoplasms, Malignant Meningeal|Neoplasms, Meningeal|Neoplasm, Spinal Meningeal|Neoplasms, Spinal Meningeal|Spinal Meningeal Neoplasm|Spinal Meningeal Neoplasms|Tumor, Meningeal|Tumors, Meningeal Cancer|Nervous system disease Meningioma MESH:D008579 DO:DOID:0080842|DO:DOID:1138|DO:DOID:3565|DO:DOID:3772|DO:DOID:4141|DO:DOID:4210|DO:DOID:4211|DO:DOID:4587|DO:DOID:4588|DO:DOID:4594|DO:DOID:6114|DO:DOID:6548|DO:DOID:6869|DO:DOID:7210|DO:DOID:7211|DO:DOID:7212|DO:DOID:7213|DO:DOID:8057 A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2056-7) MESH:D008577|MESH:D009380|MESH:D009383 C04.557.580.520|C04.557.645.520|C04.588.614.250.580.500|C10.551.240.500.500 C04.557.580|C04.557.645|C04.588.614.250.580|C10.551.240.500 Angioblastic Meningioma|Angioblastic Meningiomas|Angiomatous Meningioma|Angiomatous Meningiomas|Benign Meningioma|Benign Meningiomas|Cerebral Convexity Meningioma|Cerebral Convexity Meningiomas|Clear Cell Meningioma|Clear Cell Meningiomas|Convexity Meningioma, Cerebral|Convexity Meningiomas, Cerebral|Fibrous Meningioma|Fibrous Meningiomas|Groove Meningiomas, Olfactory|Hemangioblastic Meningioma|Hemangioblastic Meningiomas|Hemangiopericytic Meningioma|Hemangiopericytic Meningiomas|Intracranial Meningioma|Intracranial Meningiomas|Intraorbital Meningioma|Intraorbital Meningiomas|Intraventricular Meningioma|Intraventricular Meningiomas|Malignant Meningioma|Malignant Meningiomas|Meningioma, Angioblastic|Meningioma, Angiomatous|Meningioma, Benign|Meningioma, Cerebral Convexity|Meningioma, Clear Cell|Meningioma, Fibrous|Meningioma, Hemangioblastic|Meningioma, Hemangiopericytic|Meningioma, Intracranial|Meningioma, Intraorbital|Meningioma, Intraventricular|Meningioma, Malignant|Meningioma, Meningotheliomatous|Meningioma, Microcystic|Meningioma, Multiple|Meningioma, Olfactory Groove|Meningioma, Papillary|Meningioma, Parasagittal|Meningioma, Posterior Fossa|Meningioma, Psammomatous|Meningiomas|Meningiomas, Angioblastic|Meningiomas, Angiomatous|Meningiomas, Benign|Meningiomas, Cerebral Convexity|Meningiomas, Clear Cell|Meningioma, Secretory|Meningiomas, Fibrous|Meningiomas, Hemangioblastic|Meningiomas, Hemangiopericytic|Meningiomas, Intracranial|Meningiomas, Intraorbital|Meningiomas, Intraventricular|Meningiomas, Malignant|Meningiomas, Meningotheliomatous|Meningiomas, Microcystic|Meningiomas, Multiple|Meningiomas, Olfactory Groove|Meningiomas, Papillary|Meningiomas, Parasagittal|Meningioma, Sphenoid Wing|Meningioma, Spinal|Meningiomas, Posterior Fossa|Meningiomas, Psammomatous|Meningiomas, Secretory|Meningiomas, Sphenoid Wing|Meningiomas, Spinal|Meningiomas, Transitional|Meningiomas, Xanthomatous|Meningiomatoses|Meningiomatosis|Meningioma, Transitional|Meningioma, Xanthomatous|Meningotheliomatous Meningioma|Meningotheliomatous Meningiomas|Microcystic Meningioma|Microcystic Meningiomas|Multiple Meningioma|Multiple Meningiomas|Olfactory Groove Meningioma|Olfactory Groove Meningiomas|Papillary Meningioma|Papillary Meningiomas|Parasagittal Meningioma|Parasagittal Meningiomas|Posterior Fossa Meningioma|Posterior Fossa Meningiomas|Psammomatous Meningioma|Psammomatous Meningiomas|Secretory Meningioma|Secretory Meningiomas|Sphenoid Wing Meningioma|Sphenoid Wing Meningiomas|Spinal Meningioma|Spinal Meningiomas|Transitional Meningioma|Transitional Meningiomas|Wing Meningioma, Sphenoid|Wing Meningiomas, Sphenoid|Xanthomatous Meningioma|Xanthomatous Meningiomas Cancer|Nervous system disease Meningioma, familial MESH:C537443 DO:DOID:4586|OMIM:607174 MESH:D008579|MESH:D009386 C04.557.580.520/C537443|C04.557.645.520/C537443|C04.588.614.250.580.500/C537443|C04.700/C537443|C10.551.240.500.500/C537443|C16.320.700/C537443 C04.557.580.520|C04.557.645.520|C04.588.614.250.580.500|C04.700|C10.551.240.500.500|C16.320.700 Familial meningioma|MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO Cancer|Genetic disease (inborn)|Nervous system disease Meningism MESH:D008580 A condition characterized by neck stiffness, headache, and other symptoms suggestive of meningeal irritation, but without actual inflammation of the meninges (MENINGITIS). Spinal fluid pressure may be elevated but spinal fluid is normal. (DeJong, The Neurologic Examination, 4th ed, p673) MESH:D009461 C10.597.544|C23.888.592.544 C10.597|C23.888.592 Dupre's Syndrome|Dupres Syndrome|Dupre Syndrome|Meningisms|Meningismus|Meningitis Like Reaction|Meningitis-Like Reaction|Meningitis-Like Reactions|Pseudomeningitides|Pseudomeningitis|Reaction, Meningitis-Like|Reactions, Meningitis-Like|Syndrome, Dupre|Syndrome, Dupre's Nervous system disease|Signs and symptoms Meningitis MESH:D008581 DO:DOID:9471 Inflammation of the coverings of the brain and/or spinal cord, which consist of the PIA MATER; ARACHNOID; and DURA MATER. Infections (viral, bacterial, and fungal) are the most common causes of this condition, but subarachnoid hemorrhage (HEMORRHAGES, SUBARACHNOID), chemical irritation (chemical MENINGITIS), granulomatous conditions, neoplastic conditions (CARCINOMATOUS MENINGITIS), and other inflammatory conditions may produce this syndrome. (From Joynt, Clinical Neurology, 1994, Ch24, p6) MESH:D000090862 C10.586.625 C10.586 Meningitides|Pachymeningitides|Pachymeningitis Nervous system disease Meningitis, Aseptic MESH:D008582 DO:DOID:12157 A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745) MESH:D008581 C10.586.625.220 C10.586.625 Aseptic Meningitis Nervous system disease Meningitis, Bacterial MESH:D016920 DO:DOID:9470 Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots. MESH:D008581|MESH:D020806 C01.150.252.223.500|C01.207.180.500|C10.228.228.180.500|C10.586.625.280 C01.150.252.223|C01.207.180|C10.228.228.180|C10.586.625 Bacterial Meningitides|Bacterial Meningitis|Meningitides, Bacterial Bacterial infection or mycosis|Nervous system disease Meningitis, Cryptococcal MESH:D016919 DO:DOID:0080159 Meningeal inflammation produced by CRYPTOCOCCUS NEOFORMANS, an encapsulated yeast that tends to infect individuals with ACQUIRED IMMUNODEFICIENCY SYNDROME and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature HEADACHE; NAUSEA; PHOTOPHOBIA; focal neurologic deficits; SEIZURES; cranial neuropathies; and HYDROCEPHALUS. (From Adams et al., Principles of Neurology, 6th ed, pp721-2) MESH:D003453|MESH:D016921 C01.150.703.181.500.500|C01.150.703.248.290|C01.207.198.500.500|C10.228.228.198.500.500|C10.586.625.300.500 C01.150.703.181.500|C01.150.703.248|C01.207.198.500|C10.228.228.198.500|C10.586.625.300 Cerebral Cryptococcoses|Cerebral Cryptococcoses, Granulomous|Cerebral Cryptococcosis|Cerebral Cryptococcosis, Granulomous|Cryptococcal Meningitides|Cryptococcal Meningitis|Cryptococcoses, Cerebral|Cryptococcoses, Granulomous Cerebral|Cryptococcosis, Cerebral|Cryptococcosis, Granulomous Cerebral|Granulomous Cerebral Cryptococcoses|Granulomous Cerebral Cryptococcosis|Meningitides, Cryptococcal|Toruloma|Torulomas Bacterial infection or mycosis|Nervous system disease Meningitis, Escherichia coli MESH:D020814 A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400) MESH:D004927|MESH:D016920 C01.150.252.223.500.350|C01.150.252.400.310.330.500|C01.207.180.500.350|C10.228.228.180.500.350|C10.586.625.280.350 C01.150.252.223.500|C01.150.252.400.310.330|C01.207.180.500|C10.228.228.180.500|C10.586.625.280 Escherichia coli Meningitides|Escherichia coli Meningitis|Meningitides, Escherichia coli Bacterial infection or mycosis|Nervous system disease Meningitis, Fungal MESH:D016921 DO:DOID:11608 Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts. MESH:D008581|MESH:D020314 C01.150.703.181.500|C01.207.198.500|C10.228.228.198.500|C10.586.625.300 C01.150.703.181|C01.207.198|C10.228.228.198|C10.586.625 Fungal Meningitides|Fungal Meningitis|Fungal Pachymeningitides|Fungal Pachymeningitis|Meningitides, Fungal|Pachymeningitides, Fungal|Pachymeningitis, Fungal Bacterial infection or mycosis|Nervous system disease Meningitis, Haemophilus MESH:D008583 DO:DOID:0080179 Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults. MESH:D006192|MESH:D016920 C01.150.252.223.500.425|C01.150.252.400.700.433.615|C01.207.180.500.425|C10.228.228.180.500.425|C10.586.625.280.393 C01.150.252.223.500|C01.150.252.400.700.433|C01.207.180.500|C10.228.228.180.500|C10.586.625.280 Haemophilus influenzae Meningitis Type B|Haemophilus Meningitides|Haemophilus Meningitis|Haemophilus parainfluenzae Meningitides|Haemophilus parainfluenzae Meningitis|Hemophilus influenzae Meningitis Type B|Hemophilus Meningitides|Hemophilus Meningitis|HiB Meninigitis|Meningitides, Haemophilus|Meningitides, Haemophilus parainfluenzae|Meningitides, Hemophilus|Meningitis, Haemophilus influenzae Type F|Meningitis, Haemophilus parainfluenzae|Meningitis, Hemophilus|Meningitis, Hemophilus influenzae, Type B|Meningitis, Hemophilus influenzae Type F|Meninigitis, HiB|Type B Haemophilus influenzae Meningitis|Type B Hemophilus influenzae Meningitis Bacterial infection or mycosis|Nervous system disease Meningitis, Listeria MESH:D008584 DO:DOID:11572 Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36) MESH:D008088|MESH:D016920 C01.150.252.223.500.500|C01.150.252.410.514.533|C01.207.180.500.500|C10.228.228.180.500.500|C10.586.625.280.449 C01.150.252.223.500|C01.150.252.410.514|C01.207.180.500|C10.228.228.180.500|C10.586.625.280 Cerebritides, Listeria|Cerebritis, Listeria|Listeria Cerebritides|Listeria Cerebritis|Listeria Meningitides|Listeria Meningitis|Listeria Meningoencephalitides|Listeria Meningoencephalitis|Listeria monocytogenes Meningitides|Listeria monocytogenes Meningitis|Meningitides, Listeria|Meningitides, Listeria monocytogenes|Meningitis, Listeria monocytogenes|Meningoencephalitides, Listeria|Meningoencephalitis, Listeria Bacterial infection or mycosis|Nervous system disease Meningitis, Meningococcal MESH:D008585 DO:DOID:0080176 A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8) MESH:D008589|MESH:D016920 C01.150.252.223.500.750|C01.150.252.400.625.549.449|C01.207.180.500.750|C10.228.228.180.500.750|C10.586.625.280.505 C01.150.252.223.500|C01.150.252.400.625.549|C01.207.180.500|C10.228.228.180.500|C10.586.625.280 Meningitis, Meningococcal, Serogroup A|Meningitis, Meningococcal, Serogroup B|Meningitis, Meningococcal, Serogroup C|Meningitis, Meningococcal, Serogroup W-135|Meningitis, Meningococcal, Serogroup W135|Meningitis, Meningococcal, Serogroup Y|Meningitis, Meningococcic|Meningococcal Meningitis|Meningococcal Meningitis, Serogroup A|Meningococcal Meningitis, Serogroup B|Meningococcal Meningitis, Serogroup C|Meningococcal Meningitis, Serogroup W 135|Meningococcal Meningitis, Serogroup W-135|Meningococcal Meningitis, Serogroup W135|Meningococcal Meningitis, Serogroup Y|Serogroup A Meningococcal Meningitis|Serogroup B Meningococcal Meningitis|Serogroup C Meningococcal Meningitis|Serogroup W 135, Meningococcal Meningitis|Serogroup W-135, Meningococcal Meningitis|Serogroup W135, Meningococcal Meningitis|Serogroup Y, Meningococcal Meningitis Bacterial infection or mycosis|Nervous system disease Meningitis, Pneumococcal MESH:D008586 An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111) MESH:D011008|MESH:D016920 C01.150.252.223.500.875|C01.150.252.410.890.670.595|C01.207.180.500.875|C10.228.228.180.500.875|C10.586.625.280.560 C01.150.252.223.500|C01.150.252.410.890.670|C01.207.180.500|C10.228.228.180.500|C10.586.625.280 Experimental Pneumococcal Meningitides|Experimental Pneumococcal Meningitis|Meningitides, Streptococcus pneumoniae|Meningitis, Experimental Pneumococcal|Meningitis, Pneumococcal, Experimental|Meningitis, Pneumococcal, Penicillin-Resistant|Meningitis, Pneumococcal, Recurrent|Meningitis, Streptococcus pneumoniae|Pneumococcal Meningitides|Pneumococcal Meningitides, Experimental|Pneumococcal Meningitis|Pneumococcal Meningitis, Experimental|Streptococcus pneumoniae Meningitides|Streptococcus pneumoniae Meningitis Bacterial infection or mycosis|Nervous system disease Meningitis, Viral MESH:D008587 DO:DOID:10310 Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3) MESH:D008581|MESH:D020805 C01.207.245.500|C01.925.182.550|C10.228.228.245.500|C10.586.625.400 C01.207.245|C01.925.182|C10.228.228.245|C10.586.625 Meningitides, Viral|Viral Meningitides|Viral Meningitis Nervous system disease|Viral disease Meningocele MESH:D008588 A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. MESH:D006547|MESH:D009436 C10.500.680.598|C16.131.666.680.598|C23.300.707.968 C10.500.680|C16.131.666.680|C23.300.707 Acquired Meningocele|Acquired Meningoceles|Herniation, Meningeal|Herniation of Meninges|Herniations, Meningeal|Meningeal Herniation|Meningeal Herniations|Meninges Herniation|Meninges Herniations|Meningocele, Acquired|Meningocele, Rudimentary|Meningoceles|Meningoceles, Acquired|Meningoceles, Rudimentary|Meningoceles, Traumatic|Meningocele, Traumatic|Rudimentary Meningocele|Rudimentary Meningoceles|Traumatic Meningocele|Traumatic Meningoceles Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Meningococcal Infections MESH:D008589 Infections with bacteria of the species NEISSERIA MENINGITIDIS. MESH:D016870 C01.150.252.400.625.549 C01.150.252.400.625 Infection, Meningococcal|Infections, Meningococcal|Meningococcal Disease|Meningococcal Diseases|Meningococcal Infection Bacterial infection or mycosis Meningoencephalitis MESH:D008590 DO:DOID:10554 An inflammatory process involving the brain (ENCEPHALITIS) and meninges (MENINGITIS), most often produced by pathogenic organisms which invade the central nervous system, and occasionally by toxins, autoimmune disorders, and other conditions. MESH:D002494|MESH:D004660|MESH:D008581|MESH:D020805 C01.207.245.550|C01.207.570|C10.228.140.430.550|C10.228.228.245.550|C10.228.228.570|C10.586.250.550|C10.586.625.500 C01.207|C01.207.245|C10.228.140.430|C10.228.228|C10.228.228.245|C10.586.250|C10.586.625 Cerebromeningitides|Cerebromeningitis|Encephalomeningitides|Encephalomeningitis|Meningoencephalitides Nervous system disease Meningomyelocele MESH:D008591 DO:DOID:0060326 Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6) MESH:D009436 C10.500.680.610|C16.131.666.680.610 C10.500.680|C16.131.666.680 Acquired Meningomyelocele|Acquired Meningomyeloceles|Acquired Myelomeningocele|Acquired Myelomeningoceles|Meningomyelocele, Acquired|Meningomyeloceles|Meningomyeloceles, Acquired|Myelocele|Myeloceles|Myelomeningocele|Myelomeningocele, Acquired|Myelomeningoceles|Myelomeningoceles, Acquired Congenital abnormality|Nervous system disease Menkes Kinky Hair Syndrome MESH:D007706 DO:DOID:1838|OMIM:309400 An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125) MESH:D006201|MESH:D008664|MESH:D020739|MESH:D038901 C10.228.140.163.100.540|C10.597.606.360.455.687|C16.320.322.500.687|C16.320.400.525.687|C16.320.565.189.540|C16.320.565.618.590|C17.800.329.968|C18.452.132.100.540|C18.452.648.189.540|C18.452.648.618.590 C10.228.140.163.100|C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C16.320.565.189|C16.320.565.618|C17.800.329|C18.452.132.100|C18.452.648.189|C18.452.648.618 Congenital Hypocupremia|Congenital Hypocupremias|Copper Deficiencies, X-Linked|Copper Deficiency, X-Linked|Copper Transport Disease|Copper Transport Diseases|Deficiencies, X-Linked Copper|Deficiency, X-Linked Copper|Disease, Copper Transport|Diseases, Copper Transport|Diseases, Kinky Hair|Diseases, Menkes'|Diseases, Steely Hair|Disease, Steely Hair|Hair Diseases, Kinky|Hair Diseases, Steely|Hypocupremia, Congenital|Hypocupremias, Congenital|Kinky Hair Disease|Kinky Hair Diseases|Kinky Hair Syndrome|Menkea Syndrome|Menkea Syndromes|Menkes Disease|Menkes' Disease|Menkes' Diseases|Menkes Syndrome|MK|MNK|Steely Hair Disease|Steely Hair Diseases|Steely Hair Syndrome|Steely Hair Syndromes|Syndrome, Menkea|Syndromes, Menkea|Syndromes, Steely Hair|Syndrome, Steely Hair|Transport Disease, Copper|Transport Diseases, Copper|X-Linked Copper Deficiencies|X Linked Copper Deficiency|X-Linked Copper Deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease|Skin disease Menopause, Premature MESH:D008594 DO:DOID:10787 The premature cessation of menses (MENSTRUATION) when the last menstrual period occurs in a woman under the age of 40. It is due to the depletion of OVARIAN FOLLICLES. Premature MENOPAUSE can be caused by diseases; OVARIECTOMY; RADIATION; chemicals; and chromosomal abnormalities. MESH:D010049 C12.050.351.500.056.630.250|C12.100.250.056.630.250 C12.050.351.500.056.630|C12.100.250.056.630 Premature Menopause Urogenital disease (female) Menorrhagia MESH:D008595 Excessive uterine bleeding during MENSTRUATION. MESH:D008599|MESH:D014592 C12.050.351.500.852.691.449|C12.100.250.852.691.449|C23.550.414.993.350|C23.550.568.875 C12.050.351.500.852.691|C12.100.250.852.691|C23.550.414.993|C23.550.568 Heavy Menstrual Bleeding|Heavy Period|Heavy Periods|Hypermenorrhea|Menstrual Bleeding, Heavy Pathology (process)|Urogenital disease (female) Menstruation Disturbances MESH:D008599 Variations of MENSTRUATION which may be indicative of disease. MESH:D010335 C23.550.568 C23.550 Disorder, Menstruation|Disorders, Menstruation|Disturbance, Menstruation|Disturbances, Menstruation|Hypomenorrhea|Irregularity, Menstrual|Irregular Menses|Irregular Menstruation|Menses, Irregular|Menstrual Irregularities|Menstrual Irregularity|Menstruation Disorder|Menstruation Disorders|Menstruation Disturbance|Menstruation, Irregular|Menstruation, Retrograde|Polymenorrhea|Retrograde Menstruation Pathology (process) Mental and Growth Retardation with Amblyopia MESH:C563591 MESH:D000550|MESH:D006130|MESH:D008607 C10.228.140.055/C563591|C10.597.606.360/C563591|C10.597.751.941.073/C563591|C11.966.073/C563591|C23.550.393/C563591|C23.888.592.604.646/C563591|C23.888.592.763.941.073/C563591|F03.625.539/C563591 C10.228.140.055|C10.597.606.360|C10.597.751.941.073|C11.966.073|C23.550.393|C23.888.592.604.646|C23.888.592.763.941.073|F03.625.539 Eye disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Mental Disorders MESH:D001523 DO:DOID:150 Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. MESH:C F03 C Behavior Disorders|Diagnosis, Psychiatric|Illness, Mental|Mental Disorder|Mental Disorder, Severe|Mental Disorders, Severe|Mental Illness|Mental Illnesses|Psychiatric Diagnosis|Psychiatric Disease|Psychiatric Diseases|Psychiatric Disorder|Psychiatric Disorders|Psychiatric Illness|Psychiatric Illnesses|Severe Mental Disorder|Severe Mental Disorders Mental disorder Mental Fatigue MESH:D005222 A condition of low alertness or cognitive impairment, usually associated with prolonged mental activities or stress. MESH:D005221 C23.888.369.500 C23.888.369 Brain Fog|Fatigue, Mental|Fog, Brain|Fog, Mental|Mental Fog Signs and symptoms MENTAL HEALTH WELLNESS 1 OMIM:603663 MESH:D001714 F03.600.150.500/603663 F03.600.150.500 MHW1 Mental disorder MENTAL HEALTH WELLNESS 2 OMIM:603664 MESH:D001714 F03.600.150.500/603664 F03.600.150.500 MHW2 Mental disorder Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia MESH:C567466 OMIM:300749 MESH:D008831|MESH:D038901 C05.660.207.620/C567466|C10.500.507.400.500/C567466|C10.597.606.360.455/C567466|C16.131.621.207.620/C567466|C16.131.666.507.400.500/C567466|C16.320.322.500/C567466|C16.320.400.525/C567466 C05.660.207.620|C10.500.507.400.500|C10.597.606.360.455|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NAJM TYPE|MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA|MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE|MICPCH|MICPCH Syndrome|MRXSNA Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Mental Retardation associated with Psoriasis MESH:C564107 MESH:D008607|MESH:D011565 C10.597.606.360/C564107|C17.800.859.675/C564107|C23.888.592.604.646/C564107|F03.625.539/C564107 C10.597.606.360|C17.800.859.675|C23.888.592.604.646|F03.625.539 Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Mental Retardation, Autosomal Dominant 1 MESH:C566947 OMIM:156200 MESH:D008607 C10.597.606.360/C566947|C23.888.592.604.646/C566947|F03.625.539/C566947 C10.597.606.360|C23.888.592.604.646|F03.625.539 CHROMOSOME 2q23.1 DUPLICATION SYNDROME, INCLUDED|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1|MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDED|MRD1 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Dominant 3 MESH:C567241 OMIM:612580 MESH:D008607 C10.597.606.360/C567241|C23.888.592.604.646/C567241|F03.625.539/C567241 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 3|MENTAL RETARDATION, AUTOSOMAL DOMINANT 3|MRD3 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Dominant 4 MESH:C567240 OMIM:612581 MESH:D008607 C10.597.606.360/C567240|C23.888.592.604.646/C567240|F03.625.539/C567240 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 4|MENTAL RETARDATION, AUTOSOMAL DOMINANT 4|MRD4 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Dominant 5 MESH:C567234 OMIM:612621 MESH:D008607 C10.597.606.360/C567234|C23.888.592.604.646/C567234|F03.625.539/C567234 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5|MENTAL RETARDATION, AUTOSOMAL DOMINANT 5|MRD5 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 1 MESH:C565406 OMIM:249500 MESH:D008607 C10.597.606.360/C565406|C23.888.592.604.646/C565406|F03.625.539/C565406 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 1|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1|MRT1 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 10 MESH:C567013 OMIM:611096 MESH:D008607 C10.597.606.360/C567013|C23.888.592.604.646/C567013|F03.625.539/C567013 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 10|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 20|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 20|MRT10|MRT20 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 11 MESH:C567012 OMIM:611097 MESH:D008607 C10.597.606.360/C567012|C23.888.592.604.646/C567012|F03.625.539/C567012 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 11|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11|MRT11 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 12 MESH:C567019 OMIM:611090 MESH:D008607 C10.597.606.360/C567019|C23.888.592.604.646/C567019|F03.625.539/C567019 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12|MRT12 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 13 MESH:C567714 OMIM:613192 MESH:D008607 C10.597.606.360/C567714|C23.888.592.604.646/C567714|F03.625.539/C567714 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 13|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13|Mrt13 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 2 MESH:C564404 OMIM:607417 MESH:D008607 C10.597.606.360/C564404|C23.888.592.604.646/C564404|F03.625.539/C564404 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2|Mental Retardation, Autosomal Recessive 2A|MRT2|MRT2A Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 3 MESH:C563929 OMIM:608443 MESH:D008607 C10.597.606.360/C563929|C23.888.592.604.646/C563929|F03.625.539/C563929 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 3|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3|MRT3 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 4 MESH:C567008 OMIM:611107 MESH:D008607 C10.597.606.360/C567008|C23.888.592.604.646/C567008|F03.625.539/C567008 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 4|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4|MRT4 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 5 MESH:C567018 OMIM:611091 MESH:D008607 C10.597.606.360/C567018|C23.888.592.604.646/C567018|F03.625.539/C567018 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5|MRT5 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 6 MESH:C567017 OMIM:611092 MESH:D008607 C10.597.606.360/C567017|C23.888.592.604.646/C567017|F03.625.539/C567017 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6|MRT6 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 7 MESH:C567016 OMIM:611093 MESH:D008607 C10.597.606.360/C567016|C23.888.592.604.646/C567016|F03.625.539/C567016 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER 22|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 7|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7|MRT22|MRT7 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 8 MESH:C567015 MESH:D008607 C10.597.606.360/C567015|C23.888.592.604.646/C567015|F03.625.539/C567015 C10.597.606.360|C23.888.592.604.646|F03.625.539 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Autosomal Recessive 9 MESH:C567014 OMIM:611095 MESH:D008607 C10.597.606.360/C567014|C23.888.592.604.646/C567014|F03.625.539/C567014 C10.597.606.360|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 26|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 9|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9|MRT26|MRT9 Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, Buenos Aires Type MESH:C563095 MESH:D000015|MESH:D008607|MESH:D019066 C10.597.606.360/C563095|C16.131.077/C563095|C23.550.291.812/C563095|C23.888.592.604.646/C563095|F03.625.539/C563095 C10.597.606.360|C16.131.077|C23.550.291.812|C23.888.592.604.646|F03.625.539 Mutchinick Syndrome Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Mental Retardation, Fra12a Type MESH:C566980 OMIM:136630 MESH:D008607|MESH:D025063 C10.597.606.360/C566980|C16.131.260/C566980|C16.320.180/C566980|C23.888.592.604.646/C566980|F03.625.539/C566980 C10.597.606.360|C16.131.260|C16.320.180|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE|MENTAL RETARDATION, FRA12A TYPE Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Mental retardation-hypotonic facies syndrome, x-linked, 1 MESH:C537457 OMIM:309580 MESH:D003638|MESH:D006130|MESH:D007006|MESH:D038901 C09.218.458.341.186/C537457|C10.597.606.360.455/C537457|C10.597.751.418.341.186/C537457|C16.320.322.500/C537457|C16.320.400.525/C537457|C19.391.482/C537457|C23.550.393/C537457|C23.888.592.763.393.341.186/C537457 C09.218.458.341.186|C10.597.606.360.455|C10.597.751.418.341.186|C16.320.322.500|C16.320.400.525|C19.391.482|C23.550.393|C23.888.592.763.393.341.186 Carpenter-Waziri syndrome|Chudley Lowry Hoar syndrome|Chudley-Lowry Syndrome|Chudley mental retardation syndrome|Chudley syndrome 1|Holmes-Gang syndrome|INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1|Juberg-Marsidi Mental Retardation Syndrome|Juberg Marsidi syndrome|Juberg-Marsidi syndrome|MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1|Mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|Mental Retradation, X-linked with Growth Delay, Deafness, Microgenitalism|MRXHF1|SFM1|SFMS|Smith-fineman-myers syndrome 1|X-linked hypogonadism gynecomastia mental retardation|X-Linked Mental Retardation-Hypotonic Facies Syndrome|XLMR-HYPOTONIC FACIES SYNDROME Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Signs and symptoms Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities MESH:C567209 MESH:D007593|MESH:D008607|MESH:D012871 C05.550.521/C567209|C10.597.606.360/C567209|C17.800/C567209|C23.888.592.604.646/C567209|F03.625.539/C567209 C05.550.521|C10.597.606.360|C17.800|C23.888.592.604.646|F03.625.539 Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Mental retardation, keratoconus, febrile seizures, and sinoatrial block MESH:C537452 MESH:D007640|MESH:D008607|MESH:D012640|MESH:D012848 C10.597.606.360/C537452|C10.597.742/C537452|C11.204.627/C537452|C14.280.067.558.750/C537452|C14.280.123.500.750/C537452|C23.550.073.425.780/C537452|C23.888.592.604.646/C537452|C23.888.592.742/C537452|F03.625.539/C537452 C10.597.606.360|C10.597.742|C11.204.627|C14.280.067.558.750|C14.280.123.500.750|C23.550.073.425.780|C23.888.592.604.646|C23.888.592.742|F03.625.539 Cardiovascular disease|Eye disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Mental retardation, macrocephaly, short stature and craniofacial dysmorphism MESH:C537453 MESH:D004392|MESH:D008607|MESH:D058627 C05.116.099.343/C537453|C05.660.207.536/C537453|C10.500.507.400.249/C537453|C10.597.606.360/C537453|C16.131.621.207.532/C537453|C16.131.666.507.400.249/C537453|C16.320.240/C537453|C19.297/C537453|C23.888.592.604.646/C537453|F03.625.539/C537453 C05.116.099.343|C05.660.207.536|C10.500.507.400.249|C10.597.606.360|C16.131.621.207.532|C16.131.666.507.400.249|C16.320.240|C19.297|C23.888.592.604.646|F03.625.539 Fryns Dereymaeker Haegeman syndrome Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Mental Retardation, Microcephaly, Epilepsy, And Coarse Face MESH:C563342 MESH:D000015|MESH:D004827|MESH:D008607|MESH:D008831|MESH:D019066 C05.660.207.620/C563342|C10.228.140.490/C563342|C10.500.507.400.500/C563342|C10.597.606.360/C563342|C16.131.077/C563342|C16.131.621.207.620/C563342|C16.131.666.507.400.500/C563342|C23.550.291.812/C563342|C23.888.592.604.646/C563342|F03.625.539/C563342 C05.660.207.620|C10.228.140.490|C10.500.507.400.500|C10.597.606.360|C16.131.077|C16.131.621.207.620|C16.131.666.507.400.500|C23.550.291.812|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism MESH:C565246 OMIM:606242 MESH:D003286|MESH:D006130|MESH:D008607|MESH:D019465 C05.550.323/C565246|C05.651.197/C565246|C05.660.207/C565246|C10.597.606.360/C565246|C16.131.621.207/C565246|C23.550.393/C565246|C23.888.592.604.646/C565246|F03.625.539/C565246 C05.550.323|C05.651.197|C05.660.207|C10.597.606.360|C16.131.621.207|C23.550.393|C23.888.592.604.646|F03.625.539 Kondoh Syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Mental retardation Mietens Weber type MESH:C537444 MESH:D003286|MESH:D003318|MESH:D006130|MESH:D008607|MESH:D020417 C05.550.323/C537444|C05.651.197/C537444|C10.292.562.675.300/C537444|C10.597.606.360/C537444|C11.204.299/C537444|C11.590.400.300/C537444|C16.614.643/C537444|C23.550.393/C537444|C23.888.592.604.646/C537444|F03.625.539/C537444 C05.550.323|C05.651.197|C10.292.562.675.300|C10.597.606.360|C11.204.299|C11.590.400.300|C16.614.643|C23.550.393|C23.888.592.604.646|F03.625.539 Mental retardation syndrome, Mietens Weber type|Mental Retardation Syndrome, Mietens-Weber Type|Mietens-Weber syndrome Eye disease|Infant-newborn disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration MESH:C566429 OMIM:602685 MESH:D008607|MESH:D009128|MESH:D012174 C05.651.512/C566429|C10.597.606.360/C566429|C10.597.613.550.550/C566429|C11.270.684/C566429|C11.768.585.658.500/C566429|C16.320.290.684/C566429|C23.888.592.604.646/C566429|C23.888.592.608.550.550/C566429|F03.625.539/C566429 C05.651.512|C10.597.606.360|C10.597.613.550.550|C11.270.684|C11.768.585.658.500|C16.320.290.684|C23.888.592.604.646|C23.888.592.608.550.550|F03.625.539 MRST Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations MESH:C565248 MESH:D004204|MESH:D004392|MESH:D008607|MESH:D019066 C05.116.099.343/C565248|C05.550.518/C565248|C10.597.606.360/C565248|C16.320.240/C565248|C19.297/C565248|C23.550.291.812/C565248|C23.888.592.604.646/C565248|C26.289/C565248|F03.625.539/C565248 C05.116.099.343|C05.550.518|C10.597.606.360|C16.320.240|C19.297|C23.550.291.812|C23.888.592.604.646|C26.289|F03.625.539 Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Wounds and injuries Mental Retardation, Skeletal Dysplasia, and Abducens Palsy MESH:C564101 OMIM:309620 MESH:D008607|MESH:D010009|MESH:D020434|MESH:D040181 C05.116.099.708/C564101|C10.292.150/C564101|C10.597.606.360/C564101|C16.320.322/C564101|C16.320.728/C564101|C23.888.592.604.646/C564101|F03.625.539/C564101 C05.116.099.708|C10.292.150|C10.597.606.360|C16.320.322|C16.320.728|C23.888.592.604.646|F03.625.539 Christian Syndrome|CHRS|MRSD Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Mental retardation Smith Fineman Myers type MESH:C537445 MESH:D008607 C10.597.606.360/C537445|C23.888.592.604.646/C537445|F03.625.539/C537445 C10.597.606.360|C23.888.592.604.646|F03.625.539 Smith Fineman Myers syndrome Mental disorder|Nervous system disease|Signs and symptoms Mental retardation spasticity ectrodactyly MESH:C537446 MESH:D008607|MESH:D015419|MESH:D017880 C05.660.585/C537446|C10.500.300.820/C537446|C10.574.500.495.820/C537446|C10.597.606.360/C537446|C10.668.829.800.300.820/C537446|C16.131.621.585/C537446|C16.131.666.300.820/C537446|C16.320.400.375.820/C537446|C23.888.592.604.646/C537446|F03.625.539/C537446 C05.660.585|C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.668.829.800.300.820|C16.131.621.585|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.604.646|F03.625.539 Ectrodactyly, spastic paraplegia and mental retardation|Jancar syndrome|Mental retardation, spasticity and transverse limb defects Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Mental retardation syndrome, Belgian type MESH:C537447 MESH:D008607 C10.597.606.360/C537447|C23.888.592.604.646/C537447|F03.625.539/C537447 C10.597.606.360|C23.888.592.604.646|F03.625.539 Belgian type mental retardation syndrome Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature MESH:C563810 MESH:D006130|MESH:D008607|MESH:D009896|MESH:D019465 C05.660.207/C563810|C10.292.700.225/C563810|C10.597.606.360/C563810|C11.640.451/C563810|C16.131.621.207/C563810|C23.550.393/C563810|C23.888.592.604.646/C563810|F03.625.539/C563810 C05.660.207|C10.292.700.225|C10.597.606.360|C11.640.451|C16.131.621.207|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism MESH:C564724 MESH:D009128|MESH:D011618|MESH:D038901 C05.651.512/C564724|C10.597.606.360.455/C564724|C10.597.613.550.550/C564724|C16.320.322.500/C564724|C16.320.400.525/C564724|C23.888.592.608.550.550/C564724|F03.700.675/C564724 C05.651.512|C10.597.606.360.455|C10.597.613.550.550|C16.320.322.500|C16.320.400.525|C23.888.592.608.550.550|F03.700.675 Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Mental Retardation with Spastic Paraplegia MESH:C564099 MESH:D008607|MESH:D010264 C10.597.606.360/C564099|C10.597.622.669/C564099|C23.888.592.604.646/C564099|C23.888.592.636.637/C564099|F03.625.539/C564099 C10.597.606.360|C10.597.622.669|C23.888.592.604.646|C23.888.592.636.637|F03.625.539 Mental disorder|Nervous system disease|Signs and symptoms Mental retardation Wolff type MESH:C537448 MESH:D008607 C10.597.606.360/C537448|C23.888.592.604.646/C537448|F03.625.539/C537448 C10.597.606.360|C23.888.592.604.646|F03.625.539 Wolff mental retardation syndrome|Wolff type Mental retardation|Wolff Zimmermann syndrome Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, X-Linked MESH:D038901 A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS). MESH:D008607|MESH:D020271|MESH:D040181 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 C10.597.606.360|C16.320.322|C16.320.400 Mental Retardation, X Linked|Retardation, X-Linked Mental|X Linked Mental Retardation|X-Linked Mental Retardation|X Linked Mental Retardation Disorders|X-Linked Mental Retardation Disorders|X-Linked Mental Retardations|X Linked Mental Retardation Syndromes|X-Linked Mental Retardation Syndromes Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 1 MESH:C567906 OMIM:309530 MESH:D038901 C10.597.606.360.455/C567906|C16.320.322.500/C567906|C16.320.400.525/C567906 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1|MENTAL RETARDATION, X-LINKED 1|MENTAL RETARDATION, X-LINKED 18|MENTAL RETARDATION, X-LINKED 78|MRX|MRX1|MRX18|MRX78|XLID1 Genetic disease (inborn)|Nervous system disease Mental retardation, X-linked 14 MESH:C537454 OMIM:300062 MESH:D038901 C10.597.606.360.455/C537454|C16.320.322.500/C537454|C16.320.400.525/C537454 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 14|MENTAL RETARDATION, X-LINKED 14|Mental retardation, X-linked nonspecific, type 14|MRX14|XLID14 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 16 MESH:C563139 MESH:D038901 C10.597.606.360.455/C563139|C16.320.322.500/C563139|C16.320.400.525/C563139 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Mental Retardation, X-Linked, Syndromic 13|MRXS13|Ppm-X Syndrome Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 17 MESH:C563140 OMIM:300705 MESH:D038901 C10.597.606.360.455/C563140|C16.320.322.500/C563140|C16.320.400.525/C563140 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 CHROMOSOME Xp11.22 DUPLICATION SYNDROME|MENTAL RETARDATION, X-LINKED 17|MENTAL RETARDATION, X-LINKED 31|MRX17|MRX31 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 19 MESH:C563141 OMIM:300844 MESH:D038901 C10.597.606.360.455/C563141|C16.320.322.500/C563141|C16.320.400.525/C563141 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19|MENTAL RETARDATION, X-LINKED 19|MRX19|XLID19 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 2 MESH:C563135 OMIM:300428 MESH:D038901 C10.597.606.360.455/C563135|C16.320.322.500/C563135|C16.320.400.525/C563135 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 2|MENTAL RETARDATION, X-LINKED 2|MRX2|XLID2 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 20 MESH:C563142 OMIM:300047 MESH:D038901 C10.597.606.360.455/C563142|C16.320.322.500/C563142|C16.320.400.525/C563142 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 20|MENTAL RETARDATION, X-LINKED 20|MRX20|XLID20 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 23 MESH:C563144 OMIM:300046 MESH:D038901 C10.597.606.360.455/C563144|C16.320.322.500/C563144|C16.320.400.525/C563144 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 23|MENTAL RETARDATION, X-LINKED 23|MRX23|XLID23 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 3 MESH:C563136 OMIM:309541 MESH:D038901 C10.597.606.360.455/C563136|C16.320.322.500/C563136|C16.320.400.525/C563136 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3|MAHCX|MENTAL RETARDATION, X-LINKED 3|METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE|METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE|MRX3|XLID3 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 30 MESH:C563146 OMIM:300558 MESH:D038901 C10.597.606.360.455/C563146|C16.320.322.500/C563146|C16.320.400.525/C563146 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30|MENTAL RETARDATION, X-LINKED 30|MENTAL RETARDATION, X-LINKED 47|MRX30|MRX47|XLID30 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 31 MESH:C563147 MESH:D038901 C10.597.606.360.455/C563147|C16.320.322.500/C563147|C16.320.400.525/C563147 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 34 MESH:C563148 MESH:D038901 C10.597.606.360.455/C563148|C16.320.322.500/C563148|C16.320.400.525/C563148 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 42 MESH:C564524 OMIM:300372 MESH:D038901 C10.597.606.360.455/C564524|C16.320.322.500/C564524|C16.320.400.525/C564524 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 42|MENTAL RETARDATION, X-LINKED 4S|MRX42|XLID42 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 45 MESH:C564503 OMIM:300498 MESH:D038901 C10.597.606.360.455/C564503|C16.320.322.500/C564503|C16.320.400.525/C564503 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 45|MENTAL RETARDATION, X-LINKED 45|MRX45|XLID45 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 46 MESH:C564513 OMIM:300436 MESH:D038901 C10.597.606.360.455/C564513|C16.320.322.500/C564513|C16.320.400.525/C564513 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 46|MENTAL RETARDATION, X-LINKED 46|MRX46|XLID46 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 47 MESH:C563151 MESH:D038901 C10.597.606.360.455/C563151|C16.320.322.500/C563151|C16.320.400.525/C563151 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MRX47 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 50 MESH:C564713 OMIM:300115 MESH:D038901 C10.597.606.360.455/C564713|C16.320.322.500/C564713|C16.320.400.525/C564713 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50|MENTAL RETARDATION, X-LINKED 50|MRX50|XLID50 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 53 MESH:C564533 OMIM:300324 MESH:D038901 C10.597.606.360.455/C564533|C16.320.322.500/C564533|C16.320.400.525/C564533 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 53|MENTAL RETARDATION, X-LINKED 53|MRX53|XLID53 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 58 MESH:C564566 OMIM:300210 MESH:D038901 C10.597.606.360.455/C564566|C16.320.322.500/C564566|C16.320.400.525/C564566 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58|MENTAL RETARDATION, X-LINKED 58|MRX58|XLID58 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 59 MESH:C564470 MESH:D038901 C10.597.606.360.455/C564470|C16.320.322.500/C564470|C16.320.400.525/C564470 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 63 MESH:C564522 OMIM:300387 MESH:D038901 C10.597.606.360.455/C564522|C16.320.322.500/C564522|C16.320.400.525/C564522 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63|MENTAL RETARDATION, X-LINKED 63|Mental Retardation, X-Linked 68|MRX63|MRX68|XLID63 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 72 MESH:C564547 OMIM:300271 MESH:D038901 C10.597.606.360.455/C564547|C16.320.322.500/C564547|C16.320.400.525/C564547 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72|MENTAL RETARDATION, X-LINKED 72|MRX72|XLID72 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 73 MESH:C564528 OMIM:300355 MESH:D038901 C10.597.606.360.455/C564528|C16.320.322.500/C564528|C16.320.400.525/C564528 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 73|MENTAL RETARDATION, X-LINKED 73|MRX73|XLID73 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 77 MESH:C564511 OMIM:300454 MESH:D038901 C10.597.606.360.455/C564511|C16.320.322.500/C564511|C16.320.400.525/C564511 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 77|MENTAL RETARDATION, X-LINKED 77|MRX77|XLID77 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 78 MESH:C564489 MESH:D038901 C10.597.606.360.455/C564489|C16.320.322.500/C564489|C16.320.400.525/C564489 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 79 MESH:C566876 MESH:D038901 C10.597.606.360.455/C566876|C16.320.322.500/C566876|C16.320.400.525/C566876 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 81 MESH:C564515 OMIM:300433 MESH:D038901 C10.597.606.360.455/C564515|C16.320.322.500/C564515|C16.320.400.525/C564515 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 81|MENTAL RETARDATION, X-LINKED 81|MRX81|XLID81 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 82 MESH:C564496 OMIM:300518 MESH:D038901 C10.597.606.360.455/C564496|C16.320.322.500/C564496|C16.320.400.525/C564496 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 82|MENTAL RETARDATION, X-LINKED 82|MRX82|XLID82 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 84 MESH:C564501 OMIM:300505 MESH:D038901 C10.597.606.360.455/C564501|C16.320.322.500/C564501|C16.320.400.525/C564501 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 84|MENTAL RETARDATION, X-LINKED 84|MRX84|XLID84 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 89 MESH:C564036 MESH:D038901 C10.597.606.360.455/C564036|C16.320.322.500/C564036|C16.320.400.525/C564036 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 9 MESH:C563137 OMIM:309549 MESH:D038901 C10.597.606.360.455/C563137|C16.320.322.500/C563137|C16.320.400.525/C563137 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9|Mental Retardation, X-Linked 44|MENTAL RETARDATION, X-LINKED 9|MRX44|MRX9|XLID9 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 91 MESH:C564482 OMIM:300577 MESH:D038901 C10.597.606.360.455/C564482|C16.320.322.500/C564482|C16.320.400.525/C564482 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 91|MENTAL RETARDATION, X-LINKED 91|MRX91|XLID91 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 92 MESH:C564483 MESH:D038901 C10.597.606.360.455/C564483|C16.320.322.500/C564483|C16.320.400.525/C564483 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 93 MESH:C567066 OMIM:300659 MESH:D038901|MESH:D058627 C05.660.207.536/C567066|C10.500.507.400.249/C567066|C10.597.606.360.455/C567066|C16.131.621.207.532/C567066|C16.131.666.507.400.249/C567066|C16.320.322.500/C567066|C16.320.400.525/C567066 C05.660.207.536|C10.500.507.400.249|C10.597.606.360.455|C16.131.621.207.532|C16.131.666.507.400.249|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93|MENTAL RETARDATION, X-LINKED 93|Mental Retardation, X-Linked, With Macrocephaly|MRX93|XLID93 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Mental Retardation, X-Linked 94 MESH:C567479 OMIM:300699 MESH:D038901 C10.597.606.360.455/C567479|C16.320.322.500/C567479|C16.320.400.525/C567479 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE|MENTAL RETARDATION, X-LINKED 94|MENTAL RETARDATION, X-LINKED, SYNDROMIC 29|MRX94|MRXS29|MRXSW Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked 95 MESH:C567470 OMIM:300716 MESH:D038901 C10.597.606.360.455/C567470|C16.320.322.500/C567470|C16.320.400.525/C567470 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 95|MENTAL RETARDATION, X-LINKED 95|MRX95|XLID95 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked Nonsyndromic MESH:C564490 MESH:D038901 C10.597.606.360.455/C564490|C16.320.322.500/C564490|C16.320.400.525/C564490 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Genetic disease (inborn)|Nervous system disease Mental retardation X-linked, South African type MESH:C537450 DO:DOID:0060825 MESH:D038901 C10.597.606.360.455/C537450|C16.320.322.500/C537450|C16.320.400.525/C537450 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked, Syndromic 10 MESH:C564560 OMIM:300438 MESH:D020820|MESH:D038901 C10.228.662.262/C564560|C10.597.350/C564560|C10.597.606.360.455/C564560|C16.320.322.500/C564560|C16.320.400.525/C564560|C23.888.592.350/C564560 C10.228.662.262|C10.597.350|C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C23.888.592.350 17beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency|17-Beta-Hydroxysteroid Dehydrogenase X Deficiency|2-Methyl-3-Hydroxybutyric Aciduria|2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency|3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency|3-Hydroxyacyl-CoA Dehydrogenase II Deficiency|3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency|CAMR|CHOREOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR|Chorioathetosis With Mental Retardation And Abnormal Behavior|HSD10MD|HSD10 MITOCHONDRIAL DISEASE|HSD17B10 Deficiency|Hydroxyacyl-CoA Dehydrogenase II Deficiency|Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency|MENTAL RETARDATION WITH CHOREOATHETOSIS AND ABNORMAL BEHAVIOR|Mental Retardation With Chorioathetosis And Abnormal Behavior|MENTAL RETARDATION, X-LINKED, SYNDROMIC 10|MHBD DEFICIENCY|MRXS10 Genetic disease (inborn)|Nervous system disease|Signs and symptoms Mental Retardation, X-Linked, Syndromic 12 MESH:C564106 OMIM:309545 MESH:D008607|MESH:D040181 C10.597.606.360/C564106|C16.320.322/C564106|C23.888.592.604.646/C564106|F03.625.539/C564106 C10.597.606.360|C16.320.322|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 12|MENTAL RETARDATION, X-LINKED, SYNDROMIC 12|MRXS12 Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, X-Linked, Syndromic 14 MESH:C567063 OMIM:300676 MESH:D038901 C10.597.606.360.455/C567063|C16.320.322.500/C567063|C16.320.400.525/C567063 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14|MENTAL RETARDATION, X-LINKED, SYNDROMIC 14|MRXS14 Genetic disease (inborn)|Nervous system disease Mental retardation, X-linked, syndromic 5 MESH:C535773 DO:DOID:0060800|OMIM:304340 MESH:D001480|MESH:D003616|MESH:D012640|MESH:D038901 C10.228.140.079/C535773|C10.228.140.252.300/C535773|C10.228.140.602.500/C535773|C10.500.205/C535773|C10.597.606.360.455/C535773|C10.597.742/C535773|C16.131.666.205/C535773|C16.320.322.500/C535773|C16.320.400.525/C535773|C23.888.592.742/C535773 C10.228.140.079|C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C10.597.606.360.455|C10.597.742|C16.131.666.205|C16.320.322.500|C16.320.400.525|C23.888.592.742 Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures|MENTAL RETARDATION, X-LINKED 59|MENTAL RETARDATION, X-LINKED, SYNDROMIC 21|MENTAL RETARDATION, X-LINKED, SYNDROMIC 5|MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE|Mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|MRX59|MRXS21|MRXS5|MRXSF|Pettigrew syndrome|PGS Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Mental retardation X-linked syndromic 7 MESH:C537449 DO:DOID:0060808|OMIM:300218 MESH:D038901 C10.597.606.360.455/C537449|C16.320.322.500/C537449|C16.320.400.525/C537449 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Ahmad X-linked Mental retardation syndrome|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 7|Mental Retardation, X-Linked, Syndromic 7|Mrxs7 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked, Syndromic 9 MESH:C567474 MESH:D008831|MESH:D038901 C05.660.207.620/C567474|C10.500.507.400.500/C567474|C10.597.606.360.455/C567474|C16.131.621.207.620/C567474|C16.131.666.507.400.500/C567474|C16.320.322.500/C567474|C16.320.400.525/C567474 C05.660.207.620|C10.500.507.400.500|C10.597.606.360.455|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.322.500|C16.320.400.525 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Mental Retardation, X-Linked, Syndromic, Christianson Type MESH:C567484 OMIM:300243 MESH:D001259|MESH:D004827|MESH:D008607|MESH:D008831|MESH:D015835|MESH:D040181 C05.660.207.620/C567484|C10.228.140.490/C567484|C10.228.758/C567484|C10.292.562/C567484|C10.500.507.400.500/C567484|C10.597.350.090/C567484|C10.597.606.360/C567484|C11.590/C567484|C16.131.621.207.620/C567484|C16.131.666.507.400.500/C567484|C16.320.322/C567484|C23.888.592.350.090/C567484|C23.888.592.604.646/C567484|F03.625.539/C567484 C05.660.207.620|C10.228.140.490|C10.228.758|C10.292.562|C10.500.507.400.500|C10.597.350.090|C10.597.606.360|C11.590|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.322|C23.888.592.350.090|C23.888.592.604.646|F03.625.539 Angelman-Like Syndrome, X-Linked|Christianson Syndrome|Intellectual Deficit, X-Linked, South African Type|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE|Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome|MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE|MRXSCH Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Mental Retardation, X-Linked, Syndromic, Jarid1c-Related MESH:C564494 OMIM:300534 MESH:D038901 C10.597.606.360.455/C564494|C16.320.322.500/C564494|C16.320.400.525/C564494 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE|MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE|MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED|MRXSCJ|MRXSJ Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked, Syndromic, Turner Type MESH:C567476 OMIM:309590 MESH:D008607|MESH:D040181|MESH:D058627 C05.660.207.536/C567476|C10.500.507.400.249/C567476|C10.597.606.360/C567476|C16.131.621.207.532/C567476|C16.131.666.507.400.249/C567476|C16.320.322/C567476|C23.888.592.604.646/C567476|F03.625.539/C567476 C05.660.207.536|C10.500.507.400.249|C10.597.606.360|C16.131.621.207.532|C16.131.666.507.400.249|C16.320.322|C23.888.592.604.646|F03.625.539 Brooks-Wisniewski-Brown Syndrome|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE|JMS|JUBERG-MARSIDI SYNDROME|Mental Retardation and Macrocephaly Syndrome|MENTAL RETARDATION, X-LINKED, SYNDROMIC, BROOKS-WISNIEWSKI-BROWN TYPE|MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE|MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM|MRXSBWB|MRXST|MRXS-Turner Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Mental Retardation, X-Linked, Syndromic, Ube2a-Related MESH:C564069 MESH:D038901 C10.597.606.360.455/C564069|C16.320.322.500/C564069|C16.320.400.525/C564069 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related MESH:C567586 MESH:D008607|MESH:D040181 C10.597.606.360/C567586|C16.320.322/C567586|C23.888.592.604.646/C567586|F03.625.539/C567586 C10.597.606.360|C16.320.322|C23.888.592.604.646|F03.625.539 Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, X-Linked, Syp-Related MESH:C567584 MESH:D038901 C10.597.606.360.455/C567584|C16.320.322.500/C567584|C16.320.400.525/C567584 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MRXSYP Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked, With Brachydactyly And Macroglossia MESH:C567069 MESH:D038901 C10.597.606.360.455/C567069|C16.320.322.500/C567069|C16.320.400.525/C567069 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Cabezas Syndrome|Cabezas X-Linked Mental Retardation Syndrome|Mental Retardation, X-Linked, Syndromic 15|Mental Retardation, X-Linked, With Short Stature, Small Testes, Muscle Wasting, And Tremor|MRXS15 Genetic disease (inborn)|Nervous system disease Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance MESH:C537456 OMIM:300486 MESH:D038901 C10.597.606.360.455/C537456|C16.320.322.500/C537456|C16.320.400.525/C537456 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE|MENTAL RETARDATION, X-LINKED 60, FORMERLY|MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE|MRX60, FORMERLY|MRXSBL Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked, with Epilepsy MESH:C564516 OMIM:300423 MESH:D004827|MESH:D038901 C10.228.140.490/C564516|C10.597.606.360.455/C564516|C16.320.322.500/C564516|C16.320.400.525/C564516 C10.228.140.490|C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE|MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE|MENTAL RETARDATION, X-LINKED, WITH EPILEPSY|MRXE|MRXSH Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency MESH:C564712 MESH:D004393|MESH:D038901 C05.116.099.343.445/C564712|C05.116.132.358/C564712|C10.228.140.617.738.300.300/C564712|C10.597.606.360.455/C564712|C16.320.322.500/C564712|C16.320.400.525/C564712|C19.297.312/C564712|C19.700.482.311/C564712 C05.116.099.343.445|C05.116.132.358|C10.228.140.617.738.300.300|C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C19.297.312|C19.700.482.311 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related MESH:C563150 OMIM:300419 MESH:D038901 C10.597.606.360.455/C563150|C16.320.322.500/C563150|C16.320.400.525/C563150 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29|Mental Retardation, X-Linked 29|Mental Retardation, X-Linked 32|Mental Retardation, X-Linked 33|Mental Retardation, X-Linked 38|Mental Retardation, X-Linked 43|Mental Retardation, X-Linked 52|Mental Retardation, X-Linked 54|Mental Retardation, X-Linked 76|Mental Retardation, X-Linked 87|Mrx29|Mrx32|Mrx33|Mrx38|Mrx43|MRX52|Mrx54|Mrx76|Mrx87|XLID29 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked, With Panhypopituitarism MESH:C567485 OMIM:300123 MESH:D007018|MESH:D008607|MESH:D040181 C10.228.140.617.738.300/C567485|C10.597.606.360/C567485|C16.320.322/C567485|C19.700.482/C567485|C23.888.592.604.646/C567485|F03.625.539/C567485 C10.228.140.617.738.300|C10.597.606.360|C16.320.322|C19.700.482|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM|MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY, INCLUDED|MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY, INCLUDED|MRGH, INCLUDED Endocrine system disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Mental Retardation, X-Linked, with Short Stature MESH:C564527 MESH:D006130|MESH:D038901 C10.597.606.360.455/C564527|C16.320.322.500/C564527|C16.320.400.525/C564527|C23.550.393/C564527 C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C23.550.393 Genetic disease (inborn)|Nervous system disease|Pathology (process) Mental Retardation, X-Linked, With Spasticity MESH:C566877 MESH:D038901 C10.597.606.360.455/C566877|C16.320.322.500/C566877|C16.320.400.525/C566877 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Genetic disease (inborn)|Nervous system disease Mental Retardation, X-Linked, Znf711-Related MESH:C567583 MESH:D008607|MESH:D040181 C10.597.606.360/C567583|C16.320.322/C567583|C23.888.592.604.646/C567583|F03.625.539/C567583 C10.597.606.360|C16.320.322|C23.888.592.604.646|F03.625.539 Mental retardation, X-linked 97 Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Meralgia Paraesthetica, Familial MESH:C563590 MESH:D009408 C10.668.829.550/C563590 C10.668.829.550 Nervous system disease Mercaptolactate-Cysteine Disulfiduria MESH:C563085 MESH:D000592 C16.320.565.100/C563085|C18.452.648.100/C563085 C16.320.565.100|C18.452.648.100 Disulfiduria, Mixed Genetic disease (inborn)|Metabolic disease Mercury Poisoning MESH:D008630 Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of MERCURY or MERCURY COMPOUNDS. MESH:D000075322 C25.723.522.875 C25.723.522 Mercury Poisonings|Poisoning, Mercury|Poisonings, Mercury Mercury Poisoning, Nervous System MESH:D020262 Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15) MESH:D008630|MESH:D020260 C10.720.475.600|C25.723.522.875.500 C10.720.475|C25.723.522.875 Encephalopathy, Mercury|Inorganic Mercury Poisoning|Mad Hatter Disease|Mad Hatter Diseases|Mad Hatter's Disease|Mad Hatters Disease|Mercurialism, Nervous System|Mercurialism, Neurologic|Mercurial Neuroanesthenia|Mercurial Psychosis|Mercury Encephalopathy|Mercury Induced Nervous System Diseases|Mercury-Induced Nervous System Diseases|Mercury Neurotoxicity Syndrome|Mercury Neurotoxicity Syndromes|Mercury Poisoning, Inorganic|Mercury Poisoning, Neurologic|Mercury Poisoning, Organic|Mercury Psychosis|Minamata Disease|Nervous System Diseases, Mercury Induced|Nervous System Diseases, Mercury-Induced|Nervous System Mercurialism|Nervous System Poisoning, Mercury|Neuroanesthenia, Mercurial|Neurologic Mercurialism|Neurologic Mercury Poisoning|Neurotoxicity Syndrome, Mercury|Neurotoxicity Syndromes, Mercury|Organic Mercury Poisoning|Poisoning, Inorganic Mercury|Poisoning, Mercury, Nervous System|Poisoning, Mercury, Neurologic|Poisoning, Neurologic Mercury|Poisoning, Organic Mercury|Psychosis, Mercurial|Psychosis, Mercury|Syndrome, Mercury Neurotoxicity|Syndromes, Mercury Neurotoxicity|System Mercurialism, Nervous Nervous system disease Meretoja syndrome MESH:C537459 OMIM:105120 MESH:D000686|MESH:D003317 C11.204.236/C537459|C11.270.162/C537459|C16.320.290.162/C537459|C18.452.845.500/C537459 C11.204.236|C11.270.162|C16.320.290.162|C18.452.845.500 Amyloid cranial neuropathy with lattice corneal dystrophy|Amyloidosis 5|Amyloidosis due to mutant gelsolin|AMYLOIDOSIS DUE TO MUTANT GELSOLIN CEREBRAL AMYLOID ANGIOPATHY, GSN-RELATED, INCLUDED|Amyloidosis, Finnish Type|Amyloidosis, Meretoja Type|Amyloidosis V|CDL2, INCLUDED|Cerebral Amyloid Angiopathy, Gsn-Related|CORNEAL DYSTROPHY, LATTICE TYPE II, INCLUDED|Finnish type amyloidosis|Lattice corneal dystrophy associated with familial systemic amyloidosis|LATTICE CORNEAL DYSTROPHY, TYPE II, INCLUDED|Lattice dystrophy of the cornea with hereditary generalized amyloidosis|LCD2, INCLUDED|Meretoja's syndrome|Meretoja type amyloidosis Eye disease|Genetic disease (inborn)|Metabolic disease Merlob Grunebaum Reisner syndrome MESH:C537461 MESH:D038061 C05.660.585.512/C537461|C16.131.621.585.512/C537461 C05.660.585.512|C16.131.621.585.512 Congenital abnormality|Musculoskeletal disease MERRF Syndrome MESH:D017243 DO:DOID:310|OMIM:545000 A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986) MESH:D017237|MESH:D020191|MESH:D020739 C05.651.460.620.530|C10.228.140.163.100.545|C10.228.140.490.375.130.650.700|C10.228.140.490.493.063.650.700|C10.668.491.500.500.550|C16.320.565.189.545|C18.452.132.100.545|C18.452.648.189.545|C18.452.660.560.620.530 C05.651.460.620|C10.228.140.163.100|C10.228.140.490.375.130.650|C10.228.140.490.493.063.650|C10.668.491.500.500|C16.320.565.189|C18.452.132.100|C18.452.648.189|C18.452.660.560.620 Fukuhara Disease|Fukuhara Syndrome|MERRF|MERRF SYNDROME|Myoclonic Epilepsy and Ragged Red Fibers|Myoclonic Epilepsy Associated with Ragged Red Fibers|Myoclonic Epilepsy Associated with Ragged-Red Fibers|Myoclonic Epilepsy with Ragged Red Fibers|Myoclonic Epilepsy with Ragged-Red Fibers|Myoclonus with Epilepsy with Ragged Red Fibers|Myoencephalopathy Ragged Red Fiber Disease|Myoencephalopathy Ragged-Red Fiber Disease|Syndrome, Fukuhara|Syndrome, MERRF Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Mesangial sclerosis, diffuse MESH:C537346 MESH:D009404|MESH:D012598 C12.050.351.968.419.630.643/C537346|C12.200.777.419.630.643/C537346|C12.950.419.630.643/C537346|C23.550.823/C537346 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643|C23.550.823 Diffuse isolated mesangial sclerosis|Diffuse mesangial sclerosis|Familial mesangial sclerosis|Isolated diffuse mesangial sclerosis|Mesangial Sclerosis, Familial|Mesangial Sclerosis, Isolated Diffuse|Nephrotic syndrome, early onset with diffuse mesangial sclerosis|Nephrotic Syndrome, Early-Onset, With Diffuse Mesangial Sclerosis Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities MESH:C565405 MESH:D005124|MESH:D009404|MESH:D012598 C11.250/C565405|C12.050.351.968.419.630.643/C565405|C12.200.777.419.630.643/C565405|C12.950.419.630.643/C565405|C16.131.384/C565405|C23.550.823/C565405 C11.250|C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643|C16.131.384|C23.550.823 Congenital abnormality|Eye disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Mesenchymoma MESH:D008637 DO:DOID:2668 A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866) MESH:D018193 C04.557.435.500 C04.557.435 Mesenchymomas Cancer Mesenteric Cyst MESH:D008639 A rare intra-abdominal tumor in the MESENTERY. Mesenteric cysts are usually benign and can be very large fluid-filled (2000 mL) lesions. MESH:D003560|MESH:D010534 C04.182.473|C06.844.620.500 C04.182|C06.844.620 Cyst, Mesenteric|Cysts, Mesenteric|Mesenteric Cysts Cancer|Digestive system disease Mesenteric Ischemia MESH:D065666 Ischemic tissue injury produced by insufficient perfusion of intestinal tissue by the MESENTERIC CIRCULATION (i.e., CELIAC ARTERY; SUPERIOR MESENTERIC ARTERY; INFERERIOR MESENTERIC ARTERY; and MESENTERIC VEINS). It can progress from ISCHEMIA; EDEMA; and GANGRENE of the bowel wall to PERITONITIS and cardiovascular collapse. MESH:D007410|MESH:D010532|MESH:D014652 C06.405.469.656|C06.844.460|C14.907.549 C06.405.469|C06.844|C14.907 Acute Mesenteric Arterial Embolus|Acute Mesenteric Arterial Thrombosis|Insufficiencies, Mesenteric Vascular|Insufficiency, Mesenteric Vascular|Ischemia, Mesenteric|Ischemia, Nonocclusive Mesenteric|Ischemias, Mesenteric|Ischemias, Nonocclusive Mesenteric|Mesenteric Ischemia, Nonocclusive|Mesenteric Ischemias|Mesenteric Ischemias, Nonocclusive|Mesenteric Vascular Insufficiencies|Mesenteric Vascular Insufficiency|Mesenteric Venous Thromboses|Mesenteric Venous Thrombosis|Nonocclusive Mesenteric Ischemia|Nonocclusive Mesenteric Ischemias|Occlusive Mesenteric Arterial Ischemia|Thromboses, Mesenteric Venous|Thrombosis, Mesenteric Venous|Vascular Insufficiencies, Mesenteric|Vascular Insufficiency, Mesenteric|Venous Thromboses, Mesenteric|Venous Thrombosis, Mesenteric Cardiovascular disease|Digestive system disease Mesenteric Lymphadenitis MESH:D008640 DO:DOID:10782 INFLAMMATION of LYMPH NODES in the MESENTERY. MESH:D008199|MESH:D010532 C06.844.520|C15.604.315.618 C06.844|C15.604.315 Lymphadenitides, Mesenteric|Lymphadenitis, Mesenteric|Mesenteric Lymphadenitides Digestive system disease|Lymphatic disease Mesenteric Vascular Occlusion MESH:D008641 DO:DOID:13252 Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6) MESH:D001157|MESH:D007410|MESH:D010532 C06.405.469.675|C06.844.550|C14.907.137.534 C06.405.469|C06.844|C14.907.137 Mesenteric Vascular Occlusions|Occlusion, Mesenteric Vascular|Occlusions, Mesenteric Vascular|Vascular Occlusion, Mesenteric|Vascular Occlusions, Mesenteric Cardiovascular disease|Digestive system disease Mesial Movement of Teeth MESH:D008644 Migration of the teeth toward the midline or forward in the DENTAL ARCH. (From Boucher's Clinical Dental Terminology, 4th ed) MESH:D014085 C07.465.714.836.535 C07.465.714.836 Mesial Drift of Teeth|Mesial Migration of Teeth|Teeth Mesial Drift|Teeth Mesial Migration|Teeth Mesial Movement Mouth disease Mesomelia-synostoses syndrome MESH:C537348 OMIM:600383 MESH:D000015|MESH:D013580|MESH:D017880 C05.116.099.370.894/C537348|C05.660.585/C537348|C05.660.906/C537348|C16.131.077/C537348|C16.131.621.585/C537348|C16.131.621.906/C537348 C05.116.099.370.894|C05.660.585|C05.660.906|C16.131.077|C16.131.621.585|C16.131.621.906 CHROMOSOME 8q13 DELETION SYNDROME|Mesomelia synostoses|MESOMELIC DYSPLASIA, SYNDROMIC|MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFER TYPE|Verloes-David syndrome Congenital abnormality|Musculoskeletal disease Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type MESH:C563589 MESH:D004392|MESH:D010009 C05.116.099.343/C563589|C05.116.099.708/C563589|C16.320.240/C563589|C16.320.728/C563589|C19.297/C563589 C05.116.099.343|C05.116.099.708|C16.320.240|C16.320.728|C19.297 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Mesomelic dwarfism Reinhardt Pfeiffer type MESH:C537349 MESH:D004392|MESH:D010009 C05.116.099.343/C537349|C05.116.099.708/C537349|C16.320.240/C537349|C16.320.728/C537349|C19.297/C537349 C05.116.099.343|C05.116.099.708|C16.320.240|C16.320.728|C19.297 Hypoplasia of Ulna and Fibula|Mesomelic dwarfism of hypoplastic ulna and fibula type|Reinhardt-Pfeiffer mesomelic dysplasia|Reinhardt-Pfeiffer mesomelic skeletal dysplasia|Reinhardt Pfeiffer syndrome|Ulna And Fibula, Hypoplasia Of Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Mesomelic Dysplasia, Camera Type MESH:C567503 MESH:D001848 C05.116.099/C567503 C05.116.099 Musculoskeletal disease Mesomelic Dysplasia, Savarirayan Type MESH:C565349 MESH:D010009 C05.116.099.708/C565349|C16.320.728/C565349 C05.116.099.708|C16.320.728 Mesomelic Dysplasia with Absent Fibulas and Triangular Tibias Genetic disease (inborn)|Musculoskeletal disease Mesomelic Limb Shortening and Bowing MESH:C565404 MESH:D000015|MESH:D001848 C05.116.099/C565404|C16.131.077/C565404 C05.116.099|C16.131.077 Congenital abnormality|Musculoskeletal disease Mesomycetozoea Infections MESH:D050738 Infections by MESOMYCETOZOEA, general or unspecified. MESH:D010272 C01.610.600 C01.610 Infection, Mesomycetozoea|Infections, Mesomycetozoea|Mesomycetozoea Infection Parasitic disease Mesonephroma MESH:D008649 DO:DOID:4468 A rare tumor of the female genital tract, most often the ovary, formerly considered to be derived from mesonephric rests. Two varieties are recognized: (1) clear cell carcinoma, so called because of its histologic resemblance to renal cell carcinoma, and now considered to be of muellerian duct derivation and (2) an embryonal tumor (called also ENDODERMAL SINUS TUMOR and yolk sac tumor), occurring chiefly in children. The latter variety may also arise in the testis. (Dorland, 27th ed) MESH:D009373 C04.557.465.510 C04.557.465 Mesonephromas Cancer Mesothelioma MESH:D008654 DO:DOID:2645 A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed) MESH:D000236|MESH:D018301 C04.557.470.035.510|C04.557.470.660.510 C04.557.470.035|C04.557.470.660 Mesotheliomas Cancer Mesothelioma, Cystic MESH:D018261 A peritoneal mesothelioma affecting mainly young females and producing cysts of variable size and number lined by a single layer of benign mesothelial cells. The disease follows a benign course and is compatible with a normal life expectancy, requiring occasionally partial excision or decompression for relief of pain or other symptoms. Malignant potential is exceptional. (From Holland et al., Cancer Medicine, 3d ed, p1345) MESH:D008654 C04.557.470.035.510.515|C04.557.470.660.510.515 C04.557.470.035.510|C04.557.470.660.510 Cystic Mesothelioma|Cystic Mesotheliomas|Mesotheliomas, Cystic Cancer Mesothelioma, Malignant MESH:D000086002 DO:DOID:1790|DO:DOID:7474|OMIM:156240 A type of mesothelioma with a tendency to metastasize. Most tumors originate from either the PLEURA or PERITONEUM, tumors may also originate in the PERICARDIUM or testicular tissue. It is associated with ASBESTOS exposure. Somatic mutations identified in WT1, BCL10, CDKN2A, NF2, and BAP1 genes are associated with the malignancy. OMIM: 156240. MESH:D008175|MESH:D008654|MESH:D010997 C04.557.470.035.510.757|C04.557.470.660.510.757|C04.588.894.797.520.173|C04.588.894.797.640.350|C08.381.540.144|C08.785.520.124|C08.785.640.350 C04.557.470.035.510|C04.557.470.660.510|C04.588.894.797.520|C04.588.894.797.640|C08.381.540|C08.785.520|C08.785.640 Malignant Mesothelioma|Malignant Mesotheliomas|Malignant Pleural Mesothelioma|Malignant Pleural Mesotheliomas|MESOM|Mesothelioma, Malignant Pleural|Mesotheliomas, Malignant|Mesotheliomas, Malignant Pleural|Pleural Mesothelioma, Malignant|Pleural Mesotheliomas, Malignant Cancer|Respiratory tract disease Metabolic Diseases MESH:D008659 DO:DOID:0014667 Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) MESH:D009750 C18.452 C18 Disease, Metabolic|Diseases, Metabolic|Metabolic Disease|Thesaurismoses|Thesaurismosis Metabolic disease Metabolic Side Effects of Drugs and Substances MESH:D065606 Specific effects of drugs and substances on metabolic pathways such as those occurring through the CYTOCHROME P-450 ENZYME SYSTEM. These include effects that often result in DRUG INTERACTIONS; FOOD-DRUG INTERACTIONS; and HERB-DRUG INTERACTIONS. MESH:D064420 C25.100.812 C25.100 Drug Effects on Metabolism|Metabolic Side Effects of Drugs|Metabolic Side Effects of Substances|Substance Effects on Metabolism Metabolic Syndrome MESH:D024821 DO:DOID:14221 A cluster of symptoms that are risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome include ABDOMINAL OBESITY; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. MESH:D007333|MESH:D008659 C18.452.394.968.500.570|C18.452.625 C18.452|C18.452.394.968.500 Cardiometabolic Syndrome|Cardiometabolic Syndromes|Cardiovascular Syndrome, Metabolic|Cardiovascular Syndromes, Metabolic|Dysmetabolic Syndrome X|Insulin Resistance Syndrome X|Metabolic Cardiovascular Syndrome|Metabolic Syndromes|Metabolic Syndrome X|Metabolic X Syndrome|Reaven Syndrome X|Syndrome, Cardiometabolic|Syndrome, Metabolic|Syndrome, Metabolic Cardiovascular|Syndrome, Metabolic X|Syndromes, Cardiometabolic|Syndromes, Metabolic|Syndrome X, Dysmetabolic|Syndrome X, Insulin Resistance|Syndrome X, Metabolic|Syndrome X, Reaven|X Syndrome, Metabolic Metabolic disease Metabolism, Inborn Errors MESH:D008661 DO:DOID:655 Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. MESH:D008659|MESH:D030342 C16.320.565|C18.452.648 C16.320|C18.452 Error, Inborn Metabolism|Errors, Inborn Metabolism|Errors Metabolism, Inborn|Errors Metabolisms, Inborn|Inborn Errors Metabolism|Inborn Errors Metabolisms|Inborn Errors of Metabolism|Inborn Metabolism Error|Inborn Metabolism Errors|Metabolism Error, Inborn|Metabolism Errors, Inborn|Metabolism Inborn Error|Metabolism Inborn Errors|Metabolisms, Inborn Errors Genetic disease (inborn)|Metabolic disease Metacarpal 4 5 Fusion MESH:C564100 DO:DOID:0111813|OMIM:309630 MESH:D006228 C05.390.408/C564100|C05.660.585.988.425/C564100|C16.131.621.585.988.500/C564100 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 METACARPAL 4-5 FUSION|MF4 Congenital abnormality|Musculoskeletal disease Metachondromatosis MESH:C562938 DO:DOID:0111512|OMIM:156250 MESH:D001859|MESH:D005097|MESH:D018210 C04.557.450.565.265.270/C562938|C04.557.450.565.575.610.615.325/C562938|C04.588.149/C562938|C04.700.330/C562938|C05.116.099.708.670.615.325/C562938|C05.116.231/C562938|C05.116.540.310.500/C562938|C16.320.700.330/C562938 C04.557.450.565.265.270|C04.557.450.565.575.610.615.325|C04.588.149|C04.700.330|C05.116.099.708.670.615.325|C05.116.231|C05.116.540.310.500|C16.320.700.330 METCDS Cancer|Genetic disease (inborn)|Musculoskeletal disease Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A MESH:C563587 MESH:D007966 C10.228.140.163.100.362.550/C563587|C10.228.140.163.100.435.825.850.500/C563587|C10.228.140.695.625.550/C563587|C10.314.400.550/C563587|C16.320.565.189.362.550/C563587|C16.320.565.189.435.825.850.500/C563587|C16.320.565.398.641.803.925.500/C563587|C16.320.565.595.554.825.850.500/C563587|C18.452.132.100.362.550/C563587|C18.452.132.100.435.825.850.500/C563587|C18.452.584.563.641.803.925.500/C563587|C18.452.648.189.362.550/C563587|C18.452.648.189.435.825.850.500/C563587|C18.452.648.398.641.803.925.500/C563587|C18.452.648.595.554.825.850.500/C563587 C10.228.140.163.100.362.550|C10.228.140.163.100.435.825.850.500|C10.228.140.695.625.550|C10.314.400.550|C16.320.565.189.362.550|C16.320.565.189.435.825.850.500|C16.320.565.398.641.803.925.500|C16.320.565.595.554.825.850.500|C18.452.132.100.362.550|C18.452.132.100.435.825.850.500|C18.452.584.563.641.803.925.500|C18.452.648.189.362.550|C18.452.648.189.435.825.850.500|C18.452.648.398.641.803.925.500|C18.452.648.595.554.825.850.500 Genetic disease (inborn)|Metabolic disease|Nervous system disease Metachromatic Leukodystrophy due to Saposin B Deficiency MESH:C562609 OMIM:249900 MESH:D007966 C10.228.140.163.100.362.550/C562609|C10.228.140.163.100.435.825.850.500/C562609|C10.228.140.695.625.550/C562609|C10.314.400.550/C562609|C16.320.565.189.362.550/C562609|C16.320.565.189.435.825.850.500/C562609|C16.320.565.398.641.803.925.500/C562609|C16.320.565.595.554.825.850.500/C562609|C18.452.132.100.362.550/C562609|C18.452.132.100.435.825.850.500/C562609|C18.452.584.563.641.803.925.500/C562609|C18.452.648.189.362.550/C562609|C18.452.648.189.435.825.850.500/C562609|C18.452.648.398.641.803.925.500/C562609|C18.452.648.595.554.825.850.500/C562609 C10.228.140.163.100.362.550|C10.228.140.163.100.435.825.850.500|C10.228.140.695.625.550|C10.314.400.550|C16.320.565.189.362.550|C16.320.565.189.435.825.850.500|C16.320.565.398.641.803.925.500|C16.320.565.595.554.825.850.500|C18.452.132.100.362.550|C18.452.132.100.435.825.850.500|C18.452.584.563.641.803.925.500|C18.452.648.189.362.550|C18.452.648.189.435.825.850.500|C18.452.648.398.641.803.925.500|C18.452.648.595.554.825.850.500 Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency|MLDSAPB|Saposin B Deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease Metal Metabolism, Inborn Errors MESH:D008664 DO:DOID:896 Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero. MESH:D008661 C16.320.565.618|C18.452.648.618 C16.320.565|C18.452.648 Metal Metabolism, Inborn Error Genetic disease (inborn)|Metabolic disease Metaphyseal acroscyphodysplasia MESH:C537350 MESH:D005097|MESH:D006228 C04.557.450.565.575.610.615.325/C537350|C04.700.330/C537350|C05.116.099.708.670.615.325/C537350|C05.116.540.310.500/C537350|C05.390.408/C537350|C05.660.585.988.425/C537350|C16.131.621.585.988.500/C537350|C16.320.700.330/C537350 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708.670.615.325|C05.116.540.310.500|C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500|C16.320.700.330 Wedge-shaped epiphyses of knees Cancer|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Metaphyseal anadysplasia MESH:C537351 MESH:D010009|MESH:D017880 C05.116.099.708/C537351|C05.660.585/C537351|C16.131.621.585/C537351|C16.320.728/C537351 C05.116.099.708|C05.660.585|C16.131.621.585|C16.320.728 Early-onset regressive form of metaphyseal dysplasia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Metaphyseal Anadysplasia 1 MESH:C567545 MESH:D010009|MESH:D017880 C05.116.099.708/C567545|C05.660.585/C567545|C16.131.621.585/C567545|C16.320.728/C567545 C05.116.099.708|C05.660.585|C16.131.621.585|C16.320.728 MANDP1 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Metaphyseal Anadysplasia 2 MESH:C567771 OMIM:613073 MESH:D010009|MESH:D017880 C05.116.099.708/C567771|C05.660.585/C567771|C16.131.621.585/C567771|C16.320.728/C567771 C05.116.099.708|C05.660.585|C16.131.621.585|C16.320.728 MANDP2 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Metaphyseal Chondrodysplasia, Kaitila Type MESH:C565400 MESH:D010009 C05.116.099.708/C565400|C16.320.728/C565400 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Metaphyseal Chondrodysplasia, Pena Type MESH:C565399 MESH:D010009 C05.116.099.708/C565399|C16.320.728/C565399 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Metaphyseal chondrodysplasia Schmid type MESH:C537352 OMIM:156500 MESH:D010009 C05.116.099.708/C537352|C16.320.728/C537352 C05.116.099.708|C16.320.728 MCDS|Metaphyseal Chondrodysplasia, Schmid Type|Spondylometaphyseal Dysplasia, Japanese Type Genetic disease (inborn)|Musculoskeletal disease Metaphyseal chondrodysplasia Spahr type MESH:C537353 OMIM:250400 MESH:D010009 C05.116.099.708/C537353|C16.320.728/C537353 C05.116.099.708|C16.320.728 MDST|Metaphyseal Chondrodysplasia, Spahr Type|METAPHYSEAL DYSPLASIA, SPAHR TYPE|Spahr type Metaphyseal chondrodysplasia Genetic disease (inborn)|Musculoskeletal disease Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands MESH:C537354 MESH:D010009 C05.116.099.708/C537354|C16.320.728/C537354 C05.116.099.708|C16.320.728 Cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly Genetic disease (inborn)|Musculoskeletal disease Metaphyseal Chondrodysplasia with Retinitis Pigmentosa MESH:C565398 OMIM:250410 MESH:D010009|MESH:D012174 C05.116.099.708/C565398|C11.270.684/C565398|C11.768.585.658.500/C565398|C16.320.290.684/C565398|C16.320.728/C565398 C05.116.099.708|C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.728 METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA|RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES|RPSKA Eye disease|Genetic disease (inborn)|Musculoskeletal disease Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness MESH:C565396 MESH:D004413|MESH:D006314|MESH:D008607 C05.116.099.370/C565396|C09.218.458.341.562/C565396|C10.597.606.360/C565396|C10.597.751.418.341.562/C565396|C23.888.592.604.646/C565396|C23.888.592.763.393.341.562/C565396|F03.625.539/C565396 C05.116.099.370|C09.218.458.341.562|C10.597.606.360|C10.597.751.418.341.562|C23.888.592.604.646|C23.888.592.763.393.341.562|F03.625.539 Ear-nose-throat disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy MESH:C565395 MESH:D010009|MESH:D015418|MESH:D057088 C05.116.099.708/C565395|C10.292.700.225.500/C565395|C10.574.500.662/C565395|C11.270.564/C565395|C11.640.451.451/C565395|C16.320.290.564/C565395|C16.320.400.630/C565395|C16.320.728/C565395|C17.300.116/C565395|C17.800.804.108/C565395 C05.116.099.708|C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630|C16.320.728|C17.300.116|C17.800.804.108 Connective tissue disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Skin disease Metaphyseal Dysplasia, Braun-Tinschert Type MESH:C565271 MESH:D010009 C05.116.099.708/C565271|C16.320.728/C565271 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly MESH:C563586 OMIM:156510 MESH:D010009|MESH:D019066|MESH:D059327 C05.116.099.708/C563586|C05.660.585.262/C563586|C16.131.621.585.262/C563586|C16.320.728/C563586|C23.550.291.812/C563586 C05.116.099.708|C05.660.585.262|C16.131.621.585.262|C16.320.728|C23.550.291.812 MDMHB|METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Metaphyseal Dysplasia without Hypotrichosis MESH:C563574 OMIM:250460 MESH:D010009 C05.116.099.708/C563574|C16.320.728/C563574 C05.116.099.708|C16.320.728 Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia without Hypotrichosis or Immunodeficiency|Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only|CHHV|MDWH Genetic disease (inborn)|Musculoskeletal disease Metaphyseal undermodeling, spondylar dysplasia, and overgrowth MESH:C537355 MESH:D010009 C05.116.099.708/C537355|C16.320.728/C537355 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Metaplasia MESH:D008679 A condition in which there is a change of one adult cell type to another similar adult cell type. MESH:D010335 C23.550.589 C23.550 Pathology (process) Metatarsalgia MESH:D037061 Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS). MESH:D005534|MESH:D007592|MESH:D010146 C05.360.500|C05.550.610|C23.888.592.612.540 C05.360|C05.550|C23.888.592.612 Musculoskeletal disease|Signs and symptoms Metatarsal Valgus MESH:D000070591 A foot anomaly in which the forefoot is angled outward relative to the hindfoot. MESH:D005530 C05.330.663 C05.330 Metatarsus Valgus|Out Toeing|Out-Toeing|Out-Toeings|Toeing Out|Toeing Outs Musculoskeletal disease Metatarsus Varus MESH:D000070592 A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel. MESH:D005530 C05.330.711 C05.330 Adductovarus, Metatarsus|Adductus, Metatarsus|In Toeing|In-Toeing|Metatarsal Varus|Metatarsus Adductovarus|Metatarsus Adductus|Pigeon Toed|Pigeon-Toed|Toed, Pigeon|Toeing In|Varus, Metatarsal|Varus, Metatarsus Musculoskeletal disease Metatarsus Varus, Type I MESH:C563585 MESH:D005532 C05.330.495/C563585|C05.660.585.512.380/C563585|C16.131.621.585.512.500/C563585 C05.330.495|C05.660.585.512.380|C16.131.621.585.512.500 Congenital abnormality|Musculoskeletal disease Metatropic dwarfism MESH:C537356 DO:DOID:0111514|OMIM:156530 MESH:D004392|MESH:D010009 C05.116.099.343/C537356|C05.116.099.708/C537356|C16.320.240/C537356|C16.320.728/C537356|C19.297/C537356 C05.116.099.343|C05.116.099.708|C16.320.240|C16.320.728|C19.297 METATROPIC DWARFISM|Metatropic Dysplasia|Metatropic dysplasia 1|Metatropic Dysplasia Type 1|MTD Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Metatropic Dwarfism, Type II MESH:C581628 MESH:D004392|MESH:D010009 C05.116.099.343/C581628|C05.116.099.708/C581628|C16.320.240/C581628|C16.320.728/C581628|C19.297/C581628 C05.116.099.343|C05.116.099.708|C16.320.240|C16.320.728|C19.297 Metatropic dwarfism, type 2|Metatropic dysplasia 2|Metatropic Dysplasia Type II Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Methemoglobinemia MESH:D008708 DO:DOID:10783 The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed) MESH:D006402 C15.378.619 C15.378 Methemoglobinemias Blood disease Methemoglobinemia, Alpha-Globin Type MESH:C564194 MESH:D008708 C15.378.619/C564194 C15.378.619 Blood disease Methemoglobinemia, Beta-Globin Type MESH:C564192 MESH:D008708 C15.378.619/C564192 C15.378.619 Blood disease Methemoglobinemia Type IV MESH:C567102 OMIM:250790 MESH:D008708 C15.378.619/C567102 C15.378.619 ISOLATED 17,20-LYASE DEFICIENCY, PURE|METAG|METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA|Methemoglobinemia due to Deficiency of Cytochrome B5|METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5, FORMERLY|METHEMOGLOBINEMIA TYPE IV, FORMERLY Blood disease Methemoglobin Reductase Deficiency MESH:C563171 MESH:D008661 C16.320.565/C563171|C18.452.648/C563171 C16.320.565|C18.452.648 NADPH-Dependent Methemoglobin Reductase Deficiency|TPNH-Methemoglobin Reductase Deficiency Genetic disease (inborn)|Metabolic disease Methionine Malabsorption Syndrome MESH:C562682 MESH:D000592|MESH:D008607|MESH:D012120|MESH:D012640 C08.618/C562682|C10.597.606.360/C562682|C10.597.742/C562682|C16.320.565.100/C562682|C18.452.648.100/C562682|C23.888.592.604.646/C562682|C23.888.592.742/C562682|F03.625.539/C562682 C08.618|C10.597.606.360|C10.597.742|C16.320.565.100|C18.452.648.100|C23.888.592.604.646|C23.888.592.742|F03.625.539 Oasthouse Urine Disease|Smith-Strang Disease Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Methylcobalamin Deficiency, CblG Type MESH:C565394 OMIM:250940 MESH:D008661 C16.320.565/C565394|C18.452.648/C565394 C16.320.565|C18.452.648 HMAG|HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE|Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblG Complementation Type|METHIONINE SYNTHASE DEFICIENCY|METHYLCOBALAMIN DEFICIENCY, cblG TYPE Genetic disease (inborn)|Metabolic disease Methylenetetrahydrofolate reductase deficiency MESH:C537357 OMIM:236250 MESH:D006712|MESH:D009128|MESH:D011618 C05.651.512/C537357|C10.228.140.163.100.365/C537357|C10.597.613.550.550/C537357|C16.320.565.100.480.500/C537357|C16.320.565.189.365/C537357|C17.300.428/C537357|C18.452.132.100.365/C537357|C18.452.648.100.480.500/C537357|C18.452.648.189.365/C537357|C23.888.592.608.550.550/C537357|F03.700.675/C537357 C05.651.512|C10.228.140.163.100.365|C10.597.613.550.550|C16.320.565.100.480.500|C16.320.565.189.365|C17.300.428|C18.452.132.100.365|C18.452.648.100.480.500|C18.452.648.189.365|C23.888.592.608.550.550|F03.700.675 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY|METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY|MTHFR deficiency|MTHFR DEFICIENCY MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED Connective tissue disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Methylmalonate Semialdehyde Dehydrogenase Deficiency MESH:C566402 OMIM:614105 MESH:D000592|MESH:D011686 C16.320.565.100/C566402|C16.320.565.798/C566402|C18.452.648.100/C566402|C18.452.648.798/C566402 C16.320.565.100|C16.320.565.798|C18.452.648.100|C18.452.648.798 MMSDHD|MMSDH Deficiency Genetic disease (inborn)|Metabolic disease Methylmalonic acidemia MESH:C537358 DO:DOID:14749 MESH:D000592 C16.320.565.100/C537358|C18.452.648.100/C537358 C16.320.565.100|C18.452.648.100 Acidemia, methylmalonic|Isolated Methylmalonic Acidemia|Methylmalonic Aciduria Genetic disease (inborn)|Metabolic disease Methylmalonic acidemia with homocystinuria MESH:C537359 OMIM:277400 MESH:D006712|MESH:D014806 C10.228.140.163.100.365/C537359|C16.320.565.100.480.500/C537359|C16.320.565.189.365/C537359|C17.300.428/C537359|C18.452.132.100.365/C537359|C18.452.648.100.480.500/C537359|C18.452.648.189.365/C537359|C18.654.521.500.133.699.923/C537359 C10.228.140.163.100.365|C16.320.565.100.480.500|C16.320.565.189.365|C17.300.428|C18.452.132.100.365|C18.452.648.100.480.500|C18.452.648.189.365|C18.654.521.500.133.699.923 Cobalamin-C methylmalonic acidemia and homocystinuria|MAHCC|Methylmalonic acidemia and homocystinemia|Methylmalonic acidemia and homocystinuria cblC type|Methylmalonic Acidemia and Homocystinuria, CblC Type|Methylmalonic Aciduria and Homocystinuria, CblC Type|Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive|VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-CoA MUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC, INCLUDED Connective tissue disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Nutrition disorder Methylmalonic Aciduria and Homocystinuria, CblD Type MESH:C564743 OMIM:277410 MESH:D000592 C16.320.565.100/C564743|C18.452.648.100/C564743 C16.320.565.100|C18.452.648.100 Homocystinuria, CblD Type, Variant 1|MAHCD|Methylmalonic Acidemia and Homocystinuria, CblD Type|METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED|Methylmalonic Aciduria, CblD Type, Variant 2|METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED|METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY Genetic disease (inborn)|Metabolic disease Methylmalonic Aciduria and Homocystinuria, CblF Type MESH:C564747 OMIM:277380 MESH:D000592 C16.320.565.100/C564747|C18.452.648.100/C564747 C16.320.565.100|C18.452.648.100 cblF|Cobalamin, Defect in Lysosomal Release of|Cobalamin F Disease|MAHCF|Methylmalonic Acidemia and Homocystinuria, CblF Type|Methylmalonic Aciduria due to Vitamin B12-Release Defect|Vitamin B12 Lysosomal Release Defect|Vitamin B12 Storage Disease Genetic disease (inborn)|Metabolic disease METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE OMIM:614857 MESH:D000592 C16.320.565.100/614857|C18.452.648.100/614857 C16.320.565.100|C18.452.648.100 MAHCJ Genetic disease (inborn)|Metabolic disease Methylmalonic aciduria cblA type MESH:C537360 OMIM:251100 MESH:D000592 C16.320.565.100/C537360|C18.452.648.100/C537360 C16.320.565.100|C18.452.648.100 Methylmalonic acidemia cblA type|Methylmalonic Acidemia, cblA Type|Methylmalonic Aciduria, cblA Type|METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE Genetic disease (inborn)|Metabolic disease Methylmalonic aciduria cblB type MESH:C537361 OMIM:251110 MESH:D000592 C16.320.565.100/C537361|C18.452.648.100/C537361 C16.320.565.100|C18.452.648.100 Methylmalonic acidemia cblB type|Methylmalonic Acidemia, cblB Type|Methylmalonic Aciduria, cblB Type|METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE Genetic disease (inborn)|Metabolic disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency MESH:C565390 DO:DOID:0060740|OMIM:251000 MESH:D000592 C16.320.565.100/C565390|C18.452.648.100/C565390 C16.320.565.100|C18.452.648.100 Methylmalonic Acidemia due to Methylmalonyl-CoA Mutase Deficiency|Methylmalonic Aciduria, mut(0) Type|Methylmalonic Aciduria, mut(-) Type|Methylmalonic Aciduria, MUT Type|METHYLMALONIC ACIDURIA, mut(-) TYPE, INCLUDED|METHYLMALONIC ACIDURIA, mut TYPE METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED|MMA due to MCM Deficiency Genetic disease (inborn)|Metabolic disease METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT OMIM:613646 DO:DOID:0060741 MESH:C537358 C16.320.565.100/C537358/613646|C18.452.648.100/C537358/613646 C16.320.565.100/C537358|C18.452.648.100/C537358 METHYLMALONIC ACIDEMIA, TCblR TYPE Genetic disease (inborn)|Metabolic disease Methylmalonyl-CoA Epimerase Deficiency MESH:C565386 OMIM:251120 MESH:D000592 C16.320.565.100/C565386|C18.452.648.100/C565386 C16.320.565.100|C18.452.648.100 METHYLMALONIC ACIDURIA III, FORMERLY METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED|Methylmalonyl-CoA Racemase Deficiency Genetic disease (inborn)|Metabolic disease Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency MESH:C565387 MESH:D000592 C16.320.565.100/C565387|C18.452.648.100/C565387 C16.320.565.100|C18.452.648.100 Genetic disease (inborn)|Metabolic disease Methylmalonyl-Coenzyme A mutase deficiency MESH:C537573 MESH:D008661 C16.320.565/C537573|C18.452.648/C537573 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Metrorrhagia MESH:D008796 Abnormal uterine bleeding that is not related to MENSTRUATION, usually in females without regular MENSTRUAL CYCLE. The irregular and unpredictable bleeding usually comes from a dysfunctional ENDOMETRIUM. MESH:D014592 C12.050.351.500.852.691.622|C12.100.250.852.691.622|C23.550.414.993.700 C12.050.351.500.852.691|C12.100.250.852.691|C23.550.414.993 Bleeding Between Periods|Bleeding, Breakthrough|Breakthrough Bleeding|Dysfunctional Uterine Bleeding|Dysfunctional Uterine Bleedings|Intermenstrual Bleeding|Spotting|Uterine Bleeding, Dysfunctional Pathology (process)|Urogenital disease (female) Mevalonate Kinase Deficiency MESH:D054078 DO:DOID:0050452|OMIM:260920|OMIM:610377 Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash. MESH:D006942|MESH:D018901|MESH:D020739|MESH:D056660 C10.228.140.163.100.593|C15.378.147.542.319|C16.320.382.750|C16.320.565.189.593|C16.320.565.663.430|C18.452.132.100.593|C18.452.648.189.593|C18.452.648.663.430|C20.683.460.319 C10.228.140.163.100|C15.378.147.542|C16.320.382|C16.320.565.189|C16.320.565.663|C18.452.132.100|C18.452.648.189|C18.452.648.663|C20.683.460 Aciduria, Mevalonic|HIDS|Hyper IgD Syndrome|Hyper-IgD Syndrome|Hyper IgD Syndromes|Hyper-IgD Syndromes|Hyperimmunoglobulinemia D|Hyperimmunoglobulinemia D And Periodic Fever Syndrome|Kinase Deficiencies, Mevalonate|Kinase Deficiency, Mevalonate|MEVA|Mevalonate Kinase Deficiencies|Mevalonicaciduria|Mevalonic Aciduria|Mevalonicacidurias|Periodic Fever, Dutch Type|Syndrome, Hyper-IgD Blood disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Nervous system disease Mexican Cardiomelic Dysplasia MESH:C563087 MESH:D006330|MESH:D017689 C05.660.585.600/C563087|C14.240.400/C563087|C14.280.400/C563087|C16.131.240.400/C563087|C16.131.621.585.600/C563087 C05.660.585.600|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.585.600 Mesoaxial Hexadactyly and Cardiac Malformation Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Meyenburg-Altherr-Uehlinger syndrome MESH:C537574 MESH:D001168|MESH:D003638|MESH:D011081 C05.182.531/C537574|C05.550.114/C537574|C09.218.458.341.186/C537574|C10.597.751.418.341.186/C537574|C17.300.182.531/C537574|C23.888.592.763.393.341.186/C537574 C05.182.531|C05.550.114|C09.218.458.341.186|C10.597.751.418.341.186|C17.300.182.531|C23.888.592.763.393.341.186 Ashkenazi syndrome|Atrophic polychondritis, cartilagenous arthritic deafness syndrome|Jaksch' syndrome|Jaksch Wartenhorst's syndrome|Von Jaksch Wartenhorst's syndrome Connective tissue disease|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Michelin tire baby syndrome MESH:C537575 MESH:D003483|MESH:D006222|MESH:D012868 C04.445/C537575|C16.131.831/C537575|C16.320.850.180/C537575|C17.300.230/C537575|C17.800.804/C537575|C17.800.827.180/C537575 C04.445|C16.131.831|C16.320.850.180|C17.300.230|C17.800.804|C17.800.827.180 Kunze Riehm syndrome|Skin creases, multiple benign ring-shaped, of limbs Cancer|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Michels Caskey syndrome MESH:C537576 MESH:D000015|MESH:D006228|MESH:D058489 C05.390.408/C537576|C05.660.585.988.425/C537576|C12.050.351.875.253.064/C537576|C12.200.706.316.064/C537576|C12.800.316.064/C537576|C16.131.077/C537576|C16.131.621.585.988.500/C537576|C16.131.939.316.064/C537576|C19.391.119.064/C537576 C05.390.408|C05.660.585.988.425|C12.050.351.875.253.064|C12.200.706.316.064|C12.800.316.064|C16.131.077|C16.131.621.585.988.500|C16.131.939.316.064|C19.391.119.064 Mullerian aplasia with hypoplastic thumbs Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Microaneurysm MESH:D000071071 DO:DOID:11295 Aneurysm of the MICROVASCULATURE. Charcot–Bouchard aneurysms are aneurysms of the brain vasculature which is a common cause of CEREBRAL HEMORRHAGE. Retinal microaneurysm is an early diagnostic sign of DIABETIC RETINOPATHY. MESH:D000783 C14.907.055.817 C14.907.055 Aneurysm, Charcot-Bouchard|Aneurysm, Miliary|Aneurysms, Charcot-Bouchard|Aneurysms, Miliary|Charcot Bouchard Aneurysm|Charcot-Bouchard Aneurysm|Charcot Bouchard Aneurysms|Charcot-Bouchard Aneurysms|Microaneurysm, Retinal|Microaneurysms|Microaneurysms, Retinal|Miliary Aneurysm|Miliary Aneurysms|Retinal Microaneurysm|Retinal Microaneurysms Cardiovascular disease Microcephalic osteodysplastic primordial dwarfism, type 1 MESH:C537577 DO:DOID:0060608|OMIM:210710 MESH:D004392|MESH:D005317|MESH:D008831|MESH:D010009 C05.116.099.343/C537577|C05.116.099.708/C537577|C05.660.207.620/C537577|C10.500.507.400.500/C537577|C12.050.703.277.370/C537577|C16.131.621.207.620/C537577|C16.131.666.507.400.500/C537577|C16.300.390/C537577|C16.320.240/C537577|C16.320.728/C537577|C19.297/C537577|C23.550.393.450/C537577 C05.116.099.343|C05.116.099.708|C05.660.207.620|C10.500.507.400.500|C12.050.703.277.370|C16.131.621.207.620|C16.131.666.507.400.500|C16.300.390|C16.320.240|C16.320.728|C19.297|C23.550.393.450 Brachymelic primordial dwarfism|Cephaloskeletal dysplasia|Low-birth-weight dwarfism with skeletal dysplasia|Microcephalic Osteodysplastic Primordial Dwarfism, Type I|Mopd|Mopd 1|Mopd1|Mopd I|MopdI|Osteodysplastic primordial dwarfism, type 1|Osteodysplastic Primordial Dwarfism, Type I|TALS|Taybi Linder syndrome|Taybi-Linder Syndrome Congenital abnormality|Endocrine system disease|Fetal disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Pregnancy complication Microcephalic osteodysplastic primordial dwarfism, type 3 MESH:C537320 MESH:D004392|MESH:D005317|MESH:D008831 C05.116.099.343/C537320|C05.660.207.620/C537320|C10.500.507.400.500/C537320|C12.050.703.277.370/C537320|C16.131.621.207.620/C537320|C16.131.666.507.400.500/C537320|C16.300.390/C537320|C16.320.240/C537320|C19.297/C537320|C23.550.393.450/C537320 C05.116.099.343|C05.660.207.620|C10.500.507.400.500|C12.050.703.277.370|C16.131.621.207.620|C16.131.666.507.400.500|C16.300.390|C16.320.240|C19.297|C23.550.393.450 Microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type|Microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type|Microcephalic Osteodysplastic Primordial Dwarfism, Type III|MOPD III|Osteodysplastic primordial dwarfism, type 3|Osteodysplastic Primordial Dwarfism, Type III Congenital abnormality|Endocrine system disease|Fetal disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Pregnancy complication Microcephalic Osteodysplastic Primordial Dwarfism, Type II MESH:C565898 DO:DOID:0060609|OMIM:210720 MESH:D004392|MESH:D005317|MESH:D008831|MESH:D010009 C05.116.099.343/C565898|C05.116.099.708/C565898|C05.660.207.620/C565898|C10.500.507.400.500/C565898|C12.050.703.277.370/C565898|C16.131.621.207.620/C565898|C16.131.666.507.400.500/C565898|C16.300.390/C565898|C16.320.240/C565898|C16.320.728/C565898|C19.297/C565898|C23.550.393.450/C565898 C05.116.099.343|C05.116.099.708|C05.660.207.620|C10.500.507.400.500|C12.050.703.277.370|C16.131.621.207.620|C16.131.666.507.400.500|C16.300.390|C16.320.240|C16.320.728|C19.297|C23.550.393.450 Majewski Osteodysplastic Primordial Dwarfism Type II|Microcephalic osteodysplastic primordial dwarfism, type 2|Microcephalic Osteodysplastic Primordial Dwarfism Type II|Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities|Mopd2|MopdII|MOPD II|Osteodysplastic primordial dwarfism, type 2|Osteodysplastic Primordial Dwarfism Type Ii|Osteodysplastic Primordial Dwarfism, Type II Congenital abnormality|Endocrine system disease|Fetal disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Pregnancy complication Microcephalic primordial dwarfism Toriello type MESH:C537321 MESH:D002386|MESH:D004392|MESH:D008607|MESH:D008831 C05.116.099.343/C537321|C05.660.207.620/C537321|C10.500.507.400.500/C537321|C10.597.606.360/C537321|C11.510.245/C537321|C16.131.621.207.620/C537321|C16.131.666.507.400.500/C537321|C16.320.240/C537321|C19.297/C537321|C23.888.592.604.646/C537321|F03.625.539/C537321 C05.116.099.343|C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C11.510.245|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.240|C19.297|C23.888.592.604.646|F03.625.539 Microcephalic primordial dwarfism and cataracts|Microcephalic Primordial Dwarfism, Toriello Type Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Microcephaly MESH:D008831 DO:DOID:10907 A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) MESH:D019465|MESH:D065703 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 C05.660.207|C10.500.507.400|C16.131.621.207|C16.131.666.507.400 Congenital Microcephalies, Severe|Congenital Microcephaly, Severe|Microcephalies|Microcephalies, Severe Congenital|Microcephaly, Severe Congenital|Microlissencephalies|Microlissencephaly|Severe Congenital Microcephalies|Severe Congenital Microcephaly Congenital abnormality|Musculoskeletal disease|Nervous system disease MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE OMIM:615095 DO:DOID:0070294 MESH:D008831 C05.660.207.620/615095|C10.500.507.400.500/615095|C16.131.621.207.620/615095|C16.131.666.507.400.500/615095 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH10 Congenital abnormality|Musculoskeletal disease|Nervous system disease MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE OMIM:615414 DO:DOID:0070287 MESH:D008831 C05.660.207.620/615414|C10.500.507.400.500/615414|C16.131.621.207.620/615414|C16.131.666.507.400.500/615414 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH11 Congenital abnormality|Musculoskeletal disease|Nervous system disease MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE OMIM:616080 DO:DOID:0070284 MESH:D008831 C05.660.207.620/616080|C10.500.507.400.500/616080|C16.131.621.207.620/616080|C16.131.666.507.400.500/616080 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH12 Congenital abnormality|Musculoskeletal disease|Nervous system disease MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE OMIM:616051 DO:DOID:0070283 MESH:D008831 C05.660.207.620/616051|C10.500.507.400.500/616051|C16.131.621.207.620/616051|C16.131.666.507.400.500/616051 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH13 Congenital abnormality|Musculoskeletal disease|Nervous system disease MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE OMIM:616402 DO:DOID:0070279 MESH:D008831 C05.660.207.620/616402|C10.500.507.400.500/616402|C16.131.621.207.620/616402|C16.131.666.507.400.500/616402 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH14 Congenital abnormality|Musculoskeletal disease|Nervous system disease MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE OMIM:616681 DO:DOID:0070289 MESH:D008831 C05.660.207.620/616681|C10.500.507.400.500/616681|C16.131.621.207.620/616681|C16.131.666.507.400.500/616681 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH16 Congenital abnormality|Musculoskeletal disease|Nervous system disease MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE OMIM:617090 DO:DOID:0070288 MESH:D008831 C05.660.207.620/617090|C10.500.507.400.500/617090|C16.131.621.207.620/617090|C16.131.666.507.400.500/617090 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH17 Congenital abnormality|Musculoskeletal disease|Nervous system disease MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE OMIM:614673 DO:DOID:0070282 MESH:D008831 C05.660.207.620/614673|C10.500.507.400.500/614673|C16.131.621.207.620/614673|C16.131.666.507.400.500/614673 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH8 Congenital abnormality|Musculoskeletal disease|Nervous system disease MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE OMIM:614852 DO:DOID:0070292 MESH:D008831 C05.660.207.620/614852|C10.500.507.400.500/614852|C16.131.621.207.620/614852|C16.131.666.507.400.500/614852 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH9 Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly albinism digital anomalies syndrome MESH:C537322 MESH:D000015|MESH:D000417|MESH:D008831 C05.660.207.620/C537322|C10.500.507.400.500/C537322|C11.270.040/C537322|C16.131.077/C537322|C16.131.621.207.620/C537322|C16.131.666.507.400.500/C537322|C16.320.290.040/C537322|C16.320.565.100.102/C537322|C16.320.850.080/C537322|C17.800.621.440.102/C537322|C17.800.827.080/C537322|C18.452.648.100.102/C537322 C05.660.207.620|C10.500.507.400.500|C11.270.040|C16.131.077|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.290.040|C16.320.565.100.102|C16.320.850.080|C17.800.621.440.102|C17.800.827.080|C18.452.648.100.102 Albinism-Microcephaly digital anomalies syndrome|Albinism-Microcephaly-Digital Anomalies Syndrome|Microcephaly-Albinism-Digital Anomalies Syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Skin disease Microcephaly autosomal dominant MESH:C537323 DO:DOID:14725 MESH:D008831 C05.660.207.620/C537323|C10.500.507.400.500/C537323|C16.131.621.207.620/C537323|C16.131.666.507.400.500/C537323 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 Microcephaly, Autosomal Dominant|Microcephaly with autosomal dominant inheritance Congenital abnormality|Musculoskeletal disease|Nervous system disease MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME OMIM:614261 MESH:D001165|MESH:D008831 C05.660.207.620/614261|C10.500.507.400.500/614261|C14.240.850.750/614261|C14.907.150/614261|C16.131.240.850.750/614261|C16.131.621.207.620/614261|C16.131.666.507.400.500/614261 C05.660.207.620|C10.500.507.400.500|C14.240.850.750|C14.907.150|C16.131.240.850.750|C16.131.621.207.620|C16.131.666.507.400.500 MICCAP Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly cervical spine fusion anomalies MESH:C537325 MESH:D006130|MESH:D008607|MESH:D008831|MESH:D013122|MESH:D019066 C05.116.900/C537325|C05.660.207.620/C537325|C10.500.507.400.500/C537325|C10.597.606.360/C537325|C16.131.621.207.620/C537325|C16.131.666.507.400.500/C537325|C23.550.291.812/C537325|C23.550.393/C537325|C23.888.592.604.646/C537325|F03.625.539/C537325 C05.116.900|C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C23.550.291.812|C23.550.393|C23.888.592.604.646|F03.625.539 Microcephaly, mild mental retardation, short stature, and skeletal anomalies|Microcephaly with Cervical Spine Fusion Anomalies Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS OMIM:616834 MESH:D002386|MESH:D003872|MESH:D008831 C05.660.207.620/616834|C10.500.507.400.500/616834|C11.510.245/616834|C16.131.621.207.620/616834|C16.131.666.507.400.500/616834|C17.800.174/616834 C05.660.207.620|C10.500.507.400.500|C11.510.245|C16.131.621.207.620|C16.131.666.507.400.500|C17.800.174 MCCPD|SC4MOL DEFICIENCY Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Skin disease Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs MESH:C563341 MESH:D006330|MESH:D008831 C05.660.207.620/C563341|C10.500.507.400.500/C563341|C14.240.400/C563341|C14.280.400/C563341|C16.131.240.400/C563341|C16.131.621.207.620/C563341|C16.131.666.507.400.500/C563341 C05.660.207.620|C10.500.507.400.500|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.620|C16.131.666.507.400.500 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly, corpus callosum dysgenesis and cleft lip-palate MESH:C537547 MESH:D002971|MESH:D002972|MESH:D005094|MESH:D008607|MESH:D008831|MESH:D013036|MESH:D061085 C05.500.460.185/C537547|C05.660.207.540.460.185/C537547|C05.660.207.620/C537547|C07.320.440.185/C537547|C07.465.409.225/C537547|C07.465.525.164/C537547|C07.465.525.185/C537547|C07.650.500.460.185/C537547|C07.650.525.164/C537547|C07.650.525.185/C537547|C10.228.140.490.375.760/C537547|C10.228.140.490.493.875/C537547|C10.500.034/C537547|C10.500.507.400.500/C537547|C10.597.606.360/C537547|C11.675.349/C537547|C16.131.621.207.540.460.185/C537547|C16.131.621.207.620/C537547|C16.131.666.034/C537547|C16.131.666.507.400.500/C537547|C16.131.850.500.460.185/C537547|C16.131.850.525.164/C537547|C16.131.850.525.185/C537547|C23.300.008/C537547|C23.888.592.604.646/C537547|F03.625.539/C537547 C05.500.460.185|C05.660.207.540.460.185|C05.660.207.620|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C10.228.140.490.375.760|C10.228.140.490.493.875|C10.500.034|C10.500.507.400.500|C10.597.606.360|C11.675.349|C16.131.621.207.540.460.185|C16.131.621.207.620|C16.131.666.034|C16.131.666.507.400.500|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C23.300.008|C23.888.592.604.646|F03.625.539 Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip-Palate|Microcephaly, facial clefting, and preaxial polydactyly Congenital abnormality|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Microcephaly deafness syndrome MESH:C537326 MESH:D003638|MESH:D008607|MESH:D008831|MESH:D019066 C05.660.207.620/C537326|C09.218.458.341.186/C537326|C10.500.507.400.500/C537326|C10.597.606.360/C537326|C10.597.751.418.341.186/C537326|C16.131.621.207.620/C537326|C16.131.666.507.400.500/C537326|C23.550.291.812/C537326|C23.888.592.604.646/C537326|C23.888.592.763.393.341.186/C537326|F03.625.539/C537326 C05.660.207.620|C09.218.458.341.186|C10.500.507.400.500|C10.597.606.360|C10.597.751.418.341.186|C16.131.621.207.620|C16.131.666.507.400.500|C23.550.291.812|C23.888.592.604.646|C23.888.592.763.393.341.186|F03.625.539 Kawashima tsuji syndrome|Microcephaly-Deafness Syndrome|Syndrome of microcephaly, deafness-malformed ears, mental retardation and peculiar facies Congenital abnormality|Ear-nose-throat disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 1 OMIM:614231 MESH:D003920|MESH:D004827|MESH:D008831 C05.660.207.620/614231|C10.228.140.490/614231|C10.500.507.400.500/614231|C16.131.621.207.620/614231|C16.131.666.507.400.500/614231|C18.452.394.750/614231|C19.246/614231 C05.660.207.620|C10.228.140.490|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C18.452.394.750|C19.246 MEDS|MEDS1 Congenital abnormality|Endocrine system disease|Metabolic disease|Musculoskeletal disease|Nervous system disease Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation MESH:C566361 MESH:D008607|MESH:D019465 C05.660.207/C566361|C10.597.606.360/C566361|C16.131.621.207/C566361|C23.888.592.604.646/C566361|F03.625.539/C566361 C05.660.207|C10.597.606.360|C16.131.621.207|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance MESH:C567849 MESH:D000015|MESH:D002386|MESH:D002658|MESH:D008831|MESH:D019066|MESH:D034381 C05.660.207.620/C567849|C09.218.458.341/C567849|C10.500.507.400.500/C567849|C10.597.751.418.341/C567849|C11.510.245/C567849|C16.131.077/C567849|C16.131.621.207.620/C567849|C16.131.666.507.400.500/C567849|C23.550.291.812/C567849|C23.888.592.763.393.341/C567849|F03.625.421/C567849 C05.660.207.620|C09.218.458.341|C10.500.507.400.500|C10.597.751.418.341|C11.510.245|C16.131.077|C16.131.621.207.620|C16.131.666.507.400.500|C23.550.291.812|C23.888.592.763.393.341|F03.625.421 Congenital abnormality|Ear-nose-throat disease|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Microcephaly, Macrotia, And Mental Retardation MESH:C566525 MESH:D008607|MESH:D008831 C05.660.207.620/C566525|C10.500.507.400.500/C566525|C10.597.606.360/C566525|C16.131.621.207.620/C566525|C16.131.666.507.400.500/C566525|C23.888.592.604.646/C566525|F03.625.539/C566525 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Microcephaly-Micromelia Syndrome MESH:C565382 MESH:D008831|MESH:D010009 C05.116.099.708/C565382|C05.660.207.620/C565382|C10.500.507.400.500/C565382|C16.131.621.207.620/C565382|C16.131.666.507.400.500/C565382|C16.320.728/C565382 C05.116.099.708|C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.728 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism MESH:C537686 DO:DOID:0111803|OMIM:601349 MESH:D005532|MESH:D008831|MESH:D008850|MESH:D011378 C05.330.495/C537686|C05.500.460.655/C537686|C05.500.607.655/C537686|C05.660.207.540.460.655/C537686|C05.660.207.620/C537686|C05.660.585.512.380/C537686|C07.320.440.655/C537686|C07.320.610.655/C537686|C07.650.500.460.655/C537686|C10.500.507.400.500/C537686|C11.250.566/C537686|C16.131.384.666/C537686|C16.131.621.207.540.460.655/C537686|C16.131.621.207.620/C537686|C16.131.621.585.512.500/C537686|C16.131.666.507.400.500/C537686|C16.131.850.500.460.655/C537686 C05.330.495|C05.500.460.655|C05.500.607.655|C05.660.207.540.460.655|C05.660.207.620|C05.660.585.512.380|C07.320.440.655|C07.320.610.655|C07.650.500.460.655|C10.500.507.400.500|C11.250.566|C16.131.384.666|C16.131.621.207.540.460.655|C16.131.621.207.620|C16.131.621.585.512.500|C16.131.666.507.400.500|C16.131.850.500.460.655 MCOPS8|MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM|Microphthalmia, syndromic 8|MMEP Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease Microcephaly microphthalmos blindness MESH:C537541 MESH:D001766|MESH:D008831|MESH:D008850 C05.660.207.620/C537541|C10.500.507.400.500/C537541|C10.597.751.941.162/C537541|C11.250.566/C537541|C11.966.075/C537541|C16.131.384.666/C537541|C16.131.621.207.620/C537541|C16.131.666.507.400.500/C537541|C23.888.592.763.941.162/C537541 C05.660.207.620|C10.500.507.400.500|C10.597.751.941.162|C11.250.566|C11.966.075|C16.131.384.666|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.763.941.162 Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Microcephaly nonsyndromal MESH:C537542 MESH:D008831 C05.660.207.620/C537542|C10.500.507.400.500/C537542|C16.131.621.207.620/C537542|C16.131.666.507.400.500/C537542 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 Nonsyndromal microcephaly|Nonsyndromic microcephaly Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly pontocerebellar hypoplasia dyskinesia MESH:C537543 MESH:D008831|MESH:D009849|MESH:D020820 C05.660.207.620/C537543|C10.177.575.550.375/C537543|C10.228.140.079.612.600/C537543|C10.228.140.252.700.650/C537543|C10.228.662.262/C537543|C10.228.662.550.600/C537543|C10.228.854.787.750/C537543|C10.500.507.400.500/C537543|C10.574.500.825.650/C537543|C10.597.350/C537543|C16.131.621.207.620/C537543|C16.131.666.507.400.500/C537543|C16.320.400.780.750/C537543|C23.888.592.350/C537543 C05.660.207.620|C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.262|C10.228.662.550.600|C10.228.854.787.750|C10.500.507.400.500|C10.574.500.825.650|C10.597.350|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.400.780.750|C23.888.592.350 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY OMIM:613668 DO:DOID:0111262 MESH:D001284|MESH:D001927|MESH:D008831|MESH:D012640 C05.660.207.620/613668|C10.228.140/613668|C10.500.507.400.500/613668|C10.597.742/613668|C16.131.621.207.620/613668|C16.131.666.507.400.500/613668|C23.300.070/613668|C23.888.592.742/613668 C05.660.207.620|C10.228.140|C10.500.507.400.500|C10.597.742|C16.131.621.207.620|C16.131.666.507.400.500|C23.300.070|C23.888.592.742 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Microcephaly, Primary Autosomal Recessive, 1 MESH:C565384 OMIM:251200 MESH:D008831 C05.660.207.620/C565384|C10.500.507.400.500/C565384|C16.131.621.207.620/C565384|C16.131.666.507.400.500/C565384 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH1|MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE|PCC SYNDROME|Premature Chromosome Condensation Syndrome|Premature Chromosome Condensation with Microcephaly and Mental Retardation Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly, Primary Autosomal Recessive, 2 MESH:C565794 OMIM:604317 MESH:D008831 C05.660.207.620/C565794|C10.500.507.400.500/C565794|C16.131.621.207.620/C565794|C16.131.666.507.400.500/C565794 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH2|MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly, Primary Autosomal Recessive, 3 MESH:C565746 OMIM:604804 MESH:D008831 C05.660.207.620/C565746|C10.500.507.400.500/C565746|C16.131.621.207.620/C565746|C16.131.666.507.400.500/C565746 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH3|MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly, Primary Autosomal Recessive, 4 MESH:C565792 OMIM:604321 MESH:D008831 C05.660.207.620/C565792|C10.500.507.400.500/C565792|C16.131.621.207.620/C565792|C16.131.666.507.400.500/C565792 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH4|MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly, Primary Autosomal Recessive, 5 MESH:C563871 OMIM:608716 MESH:D008831 C05.660.207.620/C563871|C10.500.507.400.500/C563871|C16.131.621.207.620/C563871|C16.131.666.507.400.500/C563871 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH5|MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern MESH:C567221 MESH:D008831 C05.660.207.620/C567221|C10.500.507.400.500/C567221|C16.131.621.207.620/C567221|C16.131.666.507.400.500/C567221 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly, Primary Autosomal Recessive, 6 MESH:C564247 OMIM:608393 MESH:D008831 C05.660.207.620/C564247|C10.500.507.400.500/C564247|C16.131.621.207.620/C564247|C16.131.666.507.400.500/C564247 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH6|MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly, Primary Autosomal Recessive, 7 MESH:C567198 OMIM:612703 MESH:D008831 C05.660.207.620/C567198|C10.500.507.400.500/C567198|C16.131.621.207.620/C567198|C16.131.666.507.400.500/C567198 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 MCPH7|MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE Congenital abnormality|Musculoskeletal disease|Nervous system disease MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY OMIM:615760 MESH:C562568|MESH:D002526|MESH:D008831|MESH:D012640 C05.660.207.620/615760|C10.228.140.252/615760|C10.500.507.400.500/615760|C10.500/C562568/615760|C10.597.742/615760|C16.131.621.207.620/615760|C16.131.666.507.400.500/615760|C16.131.666/C562568/615760|C23.888.592.742/615760|F03.625.421/C562568/615760 C05.660.207.620|C10.228.140.252|C10.500.507.400.500|C10.500/C562568|C10.597.742|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.666/C562568|C23.888.592.742|F03.625.421/C562568 MSCCA Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Microcephaly, Retinitis Pigmentosa, and Sutural Cataract MESH:C563296 MESH:D002386|MESH:D008831|MESH:D012174 C05.660.207.620/C563296|C10.500.507.400.500/C563296|C11.270.684/C563296|C11.510.245/C563296|C11.768.585.658.500/C563296|C16.131.621.207.620/C563296|C16.131.666.507.400.500/C563296|C16.320.290.684/C563296 C05.660.207.620|C10.500.507.400.500|C11.270.684|C11.510.245|C11.768.585.658.500|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.290.684 Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY OMIM:613402 DO:DOID:0080457 MESH:D002658|MESH:D008831|MESH:D012640 C05.660.207.620/613402|C10.500.507.400.500/613402|C10.597.742/613402|C16.131.621.207.620/613402|C16.131.666.507.400.500/613402|C23.888.592.742/613402|F03.625.421/613402 C05.660.207.620|C10.500.507.400.500|C10.597.742|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.742|F03.625.421 DEE10|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 10|EIEE10|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10|MCSZ Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Microcephaly seizures genital hypoplasia MESH:C537540 MESH:D008831|MESH:D012640|MESH:D014564 C05.660.207.620/C537540|C10.500.507.400.500/C537540|C10.597.742/C537540|C12.050.351.875/C537540|C12.200.706/C537540|C12.800/C537540|C16.131.621.207.620/C537540|C16.131.666.507.400.500/C537540|C16.131.939/C537540|C23.888.592.742/C537540 C05.660.207.620|C10.500.507.400.500|C10.597.742|C12.050.351.875|C12.200.706|C12.800|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.939|C23.888.592.742 Microcephaly micropenis convulsions|Microcephaly micropenis seizures Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Microcephaly seizures mental retardation heart disorders MESH:C537544 MESH:D000015|MESH:D006330|MESH:D008607|MESH:D008831|MESH:D012640 C05.660.207.620/C537544|C10.500.507.400.500/C537544|C10.597.606.360/C537544|C10.597.742/C537544|C14.240.400/C537544|C14.280.400/C537544|C16.131.077/C537544|C16.131.240.400/C537544|C16.131.621.207.620/C537544|C16.131.666.507.400.500/C537544|C23.888.592.604.646/C537544|C23.888.592.742/C537544|F03.625.539/C537544 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C10.597.742|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.604.646|C23.888.592.742|F03.625.539 Microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects MESH:C566377 MESH:D005317|MESH:D008831|MESH:D019066 C05.660.207.620/C566377|C10.500.507.400.500/C566377|C12.050.703.277.370/C566377|C16.131.621.207.620/C566377|C16.131.666.507.400.500/C566377|C16.300.390/C566377|C23.550.291.812/C566377|C23.550.393.450/C566377 C05.660.207.620|C10.500.507.400.500|C12.050.703.277.370|C16.131.621.207.620|C16.131.666.507.400.500|C16.300.390|C23.550.291.812|C23.550.393.450 Congenital abnormality|Fetal disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Pregnancy complication MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 OMIM:616033 MESH:D006130|MESH:D008831|MESH:D044882 C05.660.207.620/616033|C10.500.507.400.500/616033|C16.131.621.207.620/616033|C16.131.666.507.400.500/616033|C18.452.394/616033|C23.550.393/616033 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C18.452.394|C23.550.393 MSSGM|MSSGM1 Congenital abnormality|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process) MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 OMIM:616817 MESH:D006130|MESH:D008831|MESH:D044882 C05.660.207.620/616817|C10.500.507.400.500/616817|C16.131.621.207.620/616817|C16.131.666.507.400.500/616817|C18.452.394/616817|C23.550.393/616817 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C18.452.394|C23.550.393 MSSGM2 Congenital abnormality|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process) MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES OMIM:614833 MESH:D006130|MESH:D008831|MESH:D012640|MESH:D065706 C05.660.207.620/614833|C10.500.507.400.500/614833|C10.500.507.500.500/614833|C10.597.742/614833|C16.131.621.207.620/614833|C16.131.666.507.400.500/614833|C16.131.666.507.500.500/614833|C23.550.393/614833|C23.888.592.742/614833 C05.660.207.620|C10.500.507.400.500|C10.500.507.500.500|C10.597.742|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.666.507.500.500|C23.550.393|C23.888.592.742 MSSP|PMGYS|POLYMICROGYRIA WITH SEIZURES Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Microcephaly sparse hair mental retardation seizures MESH:C537545 MESH:D000505|MESH:D008607|MESH:D008831|MESH:D012640 C05.660.207.620/C537545|C10.500.507.400.500/C537545|C10.597.606.360/C537545|C10.597.742/C537545|C16.131.621.207.620/C537545|C16.131.666.507.400.500/C537545|C17.800.329.937.122/C537545|C23.300.035/C537545|C23.888.592.604.646/C537545|C23.888.592.742/C537545|F03.625.539/C537545 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C10.597.742|C16.131.621.207.620|C16.131.666.507.400.500|C17.800.329.937.122|C23.300.035|C23.888.592.604.646|C23.888.592.742|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia MESH:C565381 MESH:D000361|MESH:D008831|MESH:D019066 C05.660.207.620/C565381|C10.500.507.400.500/C565381|C15.378.147.142/C565381|C15.604.515.032/C565381|C16.131.621.207.620/C565381|C16.131.666.507.400.500/C565381|C20.673.088/C565381|C23.550.291.812/C565381 C05.660.207.620|C10.500.507.400.500|C15.378.147.142|C15.604.515.032|C16.131.621.207.620|C16.131.666.507.400.500|C20.673.088|C23.550.291.812 Blood disease|Congenital abnormality|Immune system disease|Lymphatic disease|Musculoskeletal disease|Nervous system disease|Pathology (process) Microcephaly with Chorioretinopathy, Autosomal Dominant MESH:C563583 MESH:D008831|MESH:D012164 C05.660.207.620/C563583|C10.500.507.400.500/C563583|C11.768/C563583|C16.131.621.207.620/C563583|C16.131.666.507.400.500/C563583 C05.660.207.620|C10.500.507.400.500|C11.768|C16.131.621.207.620|C16.131.666.507.400.500 Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease Microcephaly with Chorioretinopathy, Autosomal Recessive MESH:C565379 OMIM:251270|OMIM:616171|OMIM:616335 MESH:D008831|MESH:D012164|MESH:D015785|MESH:D015862 C05.660.207.620/C565379|C10.500.507.400.500/C565379|C11.270/C565379|C11.768/C565379|C11.941.160/C565379|C16.131.621.207.620/C565379|C16.131.666.507.400.500/C565379|C16.320.290/C565379 C05.660.207.620|C10.500.507.400.500|C11.270|C11.768|C11.941.160|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.290 MCCRP1|MCCRP2|MCCRP3|MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1|MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2|MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Microcephaly with Mental Retardation and Digital Anomalies MESH:C567101 OMIM:251255 MESH:D006228|MESH:D008607|MESH:D008831 C05.390.408/C567101|C05.660.207.620/C567101|C05.660.585.988.425/C567101|C10.500.507.400.500/C567101|C10.597.606.360/C567101|C16.131.621.207.620/C567101|C16.131.621.585.988.500/C567101|C16.131.666.507.400.500/C567101|C23.888.592.604.646/C567101|F03.625.539/C567101 C05.390.408|C05.660.207.620|C05.660.585.988.425|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.621.585.988.500|C16.131.666.507.400.500|C23.888.592.604.646|F03.625.539 Jawad Syndrome|JWDS|KELLY SYNDROME|MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT OMIM:152950 DO:DOID:0060349 MESH:C537711|MESH:D008607 C05.660.207.620/C537711/152950|C10.500.507.400.500/C537711/152950|C10.597.606.360/152950|C11.250.666/C537711/152950|C11.270.660/C537711/152950|C11.768.660/C537711/152950|C15.604.496/C537711/152950|C16.131.384.784/C537711/152950|C16.131.621.207.620/C537711/152950|C16.131.666.507.400.500/C537711/152950|C16.320.290.660/C537711/152950|C23.550.291.812/C537711/152950|C23.888.592.604.646/152950|F03.625.539/152950 C05.660.207.620/C537711|C10.500.507.400.500/C537711|C10.597.606.360|C11.250.666/C537711|C11.270.660/C537711|C11.768.660/C537711|C15.604.496/C537711|C16.131.384.784/C537711|C16.131.621.207.620/C537711|C16.131.666.507.400.500/C537711|C16.320.290.660/C537711|C23.550.291.812/C537711|C23.888.592.604.646|F03.625.539 CDMMR SYNDROME|LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS|LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME|MCLMR|MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION, AUTOSOMAL DOMINANT|MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME|MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION|MLCRD SYNDROME Congenital abnormality|Eye disease|Genetic disease (inborn)|Lymphatic disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Microcephaly with Simplified Gyral Pattern MESH:C566332 MESH:D008831 C05.660.207.620/C566332|C10.500.507.400.500/C566332|C16.131.621.207.620/C566332|C16.131.666.507.400.500/C566332 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 Congenital abnormality|Musculoskeletal disease|Nervous system disease Microcephaly with spastic quadriplegia MESH:C537546 MESH:D008831|MESH:D011782 C05.660.207.620/C537546|C10.500.507.400.500/C537546|C10.597.622.760/C537546|C16.131.621.207.620/C537546|C16.131.666.507.400.500/C537546|C23.888.592.636.786/C537546 C05.660.207.620|C10.500.507.400.500|C10.597.622.760|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.636.786 Recessive microcephaly with spastic quadriplegia Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms Microcolon MESH:C562563 MESH:D007415 C06.405.469.531/C562563 C06.405.469.531 Digestive system disease Microcoria, congenital MESH:C537550 OMIM:156600 MESH:D011681 C10.597.690/C537550|C11.710/C537550|C23.888.592.708/C537550 C10.597.690|C11.710|C23.888.592.708 CHROMOSOME 13q32 DELETION SYNDROME|Congenital microcoria|Congenital miosis|MCOR|Miosis, congenital|Pinhole pupils Eye disease|Nervous system disease|Signs and symptoms Microcornea corectopia macular hypoplasia MESH:C537551 MESH:D008850 C11.250.566/C537551|C16.131.384.666/C537551 C11.250.566|C16.131.384.666 Congenital abnormality|Eye disease Microcornea, glaucoma, and absent frontal sinuses MESH:C537552 MESH:D005124|MESH:D005901 C11.250/C537552|C11.525.381/C537552|C16.131.384/C537552 C11.250|C11.525.381|C16.131.384 Hereditary microcornea, glaucoma, and absent frontal sinuses Congenital abnormality|Eye disease MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS OMIM:615458 MESH:C562941|MESH:D003317|MESH:D008850 C05.660.207/C562941/615458|C11.204.236/615458|C11.250.566/615458|C11.270.162/615458|C16.131.384.666/615458|C16.131.621.207/C562941/615458|C16.320.290.162/615458 C05.660.207/C562941|C11.204.236|C11.250.566|C11.270.162|C16.131.384.666|C16.131.621.207/C562941|C16.320.290.162 MMCAT Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease Microcystic adnexal carcinoma MESH:C000632664 MESH:D012878|MESH:D018294 C04.557.470.550/C000632664|C04.588.805/C000632664|C17.800.882/C000632664 C04.557.470.550|C04.588.805|C17.800.882 Cancer|Skin disease Microdontia hypodontia short stature MESH:C537553 MESH:D000015|MESH:D000848|MESH:D006130 C07.650.800.100/C537553|C07.793.700.100/C537553|C16.131.077/C537553|C16.131.850.800.100/C537553|C23.550.393/C537553 C07.650.800.100|C07.793.700.100|C16.131.077|C16.131.850.800.100|C23.550.393 Congenital abnormality|Mouth disease|Pathology (process) Microgastria limb reduction defect MESH:C537554 MESH:D006222|MESH:D007027|MESH:D008850|MESH:D016142 C04.445/C537554|C05.660.207.410/C537554|C10.228.140.617/C537554|C10.500.034.875/C537554|C11.250.566/C537554|C16.131.077.410/C537554|C16.131.260.380/C537554|C16.131.384.666/C537554|C16.131.621.207.410/C537554|C16.131.666.034.875/C537554|C16.320.180.380/C537554 C04.445|C05.660.207.410|C10.228.140.617|C10.500.034.875|C11.250.566|C16.131.077.410|C16.131.260.380|C16.131.384.666|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 Congenital microgastria and limb reduction defects|Microgastria-limb reduction defects association Cancer|Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Micrognathism MESH:D008844 Abnormally small jaw. MESH:D007569 C05.500.460.457|C05.660.207.540.460.457|C07.320.440.457|C07.650.500.460.457|C16.131.621.207.540.460.457|C16.131.850.500.460.457 C05.500.460|C05.660.207.540.460|C07.320.440|C07.650.500.460|C16.131.621.207.540.460|C16.131.850.500.460 Congenital Micrognathia|Congenital Micrognathias|Congenital Micrognathism|Congenital Micrognathisms|Mandibular Micrognathia|Mandibular Micrognathias|Mandibular Micrognathism|Mandibular Micrognathisms|Micrognathia|Micrognathia, Congenital|Micrognathia, Mandibular|Micrognathias|Micrognathias, Congenital|Micrognathias, Mandibular|Micrognathism, Congenital|Micrognathism, Mandibular|Micrognathisms|Micrognathisms, Congenital|Micrognathisms, Mandibular Congenital abnormality|Mouth disease|Musculoskeletal disease Microhydranencephaly MESH:C537555 OMIM:605013 MESH:D006832|MESH:D008831 C05.660.207.620/C537555|C10.500.450/C537555|C10.500.507.400.500/C537555|C16.131.621.207.620/C537555|C16.131.666.450/C537555|C16.131.666.507.400.500/C537555 C05.660.207.620|C10.500.450|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.450|C16.131.666.507.400.500 Hydranencephaly and microcephaly|MHAC Congenital abnormality|Musculoskeletal disease|Nervous system disease Micromelic dwarfism Fryns type MESH:C537556 MESH:D010009 C05.116.099.708/C537556|C16.320.728/C537556 C05.116.099.708|C16.320.728 Dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects|Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects|Spondyloepimetaphyseal dysplasia, micromelic Genetic disease (inborn)|Musculoskeletal disease Micromelic dysplasia, congenital, with dislocation of radius MESH:C537557 MESH:D010009|MESH:D019066 C05.116.099.708/C537557|C16.320.728/C537557|C23.550.291.812/C537557 C05.116.099.708|C16.320.728|C23.550.291.812 Micromelic dysplasia dislocation of radius Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Micronuclei, Chromosome-Defective MESH:D048629 Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes. MESH:D002869 C23.550.210.570 C23.550.210 Chromosome Defective Micronuclei|Chromosome-Defective Micronuclei|Chromosome-Defective Micronucleus|Genotoxicant Induced Micronuclei|Genotoxicant-Induced Micronuclei|Genotoxicant-Induced Micronucleus|Micronuclei, Chromosome Defective|Micronuclei, Genotoxicant Induced|Micronuclei, Genotoxicant-Induced|Micronucleus, Chromosome Defective|Micronucleus, Chromosome-Defective|Micronucleus, Genotoxicant-Induced Pathology (process) Microphthalmia and mental deficiency MESH:C537462 MESH:D003103|MESH:D003318|MESH:D008607|MESH:D008831|MESH:D008850|MESH:D020739 C05.660.207.620/C537462|C10.228.140.163.100/C537462|C10.500.507.400.500/C537462|C10.597.606.360/C537462|C11.204.299/C537462|C11.250.110/C537462|C11.250.566/C537462|C11.270.147/C537462|C16.131.384.282/C537462|C16.131.384.666/C537462|C16.131.621.207.620/C537462|C16.131.666.507.400.500/C537462|C16.320.565.189/C537462|C18.452.132.100/C537462|C18.452.648.189/C537462|C23.888.592.604.646/C537462|F03.625.539/C537462 C05.660.207.620|C10.228.140.163.100|C10.500.507.400.500|C10.597.606.360|C11.204.299|C11.250.110|C11.250.566|C11.270.147|C16.131.384.282|C16.131.384.666|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.565.189|C18.452.132.100|C18.452.648.189|C23.888.592.604.646|F03.625.539 Colobomatous microphthalmia|Microphthalmia, colobomatous|Microphthalmos, severe mental retardation, and spastic cerebral palsy|Pinsky DiGeorge Harley syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Microphthalmia associated with colobomatous cyst MESH:C537463 MESH:D003103|MESH:D003560|MESH:D008850 C04.182/C537463|C11.250.110/C537463|C11.250.566/C537463|C11.270.147/C537463|C16.131.384.282/C537463|C16.131.384.666/C537463|C23.300.306/C537463 C04.182|C11.250.110|C11.250.566|C11.270.147|C16.131.384.282|C16.131.384.666|C23.300.306 Microphthalmos bilateral, colobomatous orbital cyst Cancer|Congenital abnormality|Eye disease|Pathology (anatomical condition) Microphthalmia, Cataracts, and Iris Abnormalities MESH:C566448 MESH:D002386|MESH:D003103|MESH:D008850 C11.250.110/C566448|C11.250.566/C566448|C11.270.147/C566448|C11.510.245/C566448|C16.131.384.282/C566448|C16.131.384.666/C566448 C11.250.110|C11.250.566|C11.270.147|C11.510.245|C16.131.384.282|C16.131.384.666 Congenital abnormality|Eye disease MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME OMIM:615877 DO:DOID:0111802 MESH:D008850 C11.250.566/615877|C16.131.384.666/615877 C11.250.566|C16.131.384.666 MCOPS14|MCSKS|MICROPHTHALMIA AND/OR COLOBOMA WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA|MICROPHTHALMIA, SYNDROMIC 14 Congenital abnormality|Eye disease Microphthalmia, Isolated 1 MESH:C565377 OMIM:251600 MESH:D008850 C11.250.566/C565377|C16.131.384.666/C565377 C11.250.566|C16.131.384.666 ANOPHTHALMIA, CLINICAL, ISOLATED|MCOP|MCOP1|Microphthalmos, Autosomal Recessive Congenital abnormality|Eye disease Microphthalmia, Isolated 2 MESH:C566446 OMIM:610093 MESH:D008850 C11.250.566/C566446|C16.131.384.666/C566446 C11.250.566|C16.131.384.666 ANOPHTHALMIA, CLINICAL, ISOLATED|MCOP2 Congenital abnormality|Eye disease Microphthalmia, Isolated 3 MESH:C567025 OMIM:611038 MESH:D008850 C11.250.566/C567025|C16.131.384.666/C567025 C11.250.566|C16.131.384.666 MCOP3, FORMERLY|MCOPS16|MICROPHTHALMIA, ISOLATED 3, FORMERLY|MICROPHTHALMIA, SYNDROMIC 16 Congenital abnormality|Eye disease Microphthalmia, Isolated 4 MESH:C567757 OMIM:613094 MESH:D008850 C11.250.566/C567757|C16.131.384.666/C567757 C11.250.566|C16.131.384.666 MCOP4 Congenital abnormality|Eye disease MICROPHTHALMIA, ISOLATED 5 OMIM:611040 DO:DOID:0060837 MESH:D008850|MESH:D012164|MESH:D012174|MESH:D015594 C10.292.700.450/611040|C11.250.566/611040|C11.270.684/611040|C11.640.513/611040|C11.768.585.658.500/611040|C11.768/611040|C16.131.384.666/611040|C16.320.290.684/611040 C10.292.700.450|C11.250.566|C11.270.684|C11.640.513|C11.768|C11.768.585.658.500|C16.131.384.666|C16.320.290.684 MCOP5|MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease MICROPHTHALMIA, ISOLATED 6 OMIM:613517 DO:DOID:0060835 MESH:D008850 C11.250.566/613517|C16.131.384.666/613517 C11.250.566|C16.131.384.666 MCOP6|MICROPHTHALMIA, POSTERIOR NONSYNDROMIC Congenital abnormality|Eye disease MICROPHTHALMIA, ISOLATED 7 OMIM:613704 DO:DOID:0060838 MESH:D008850 C11.250.566/613704|C16.131.384.666/613704 C11.250.566|C16.131.384.666 MCOP7 Congenital abnormality|Eye disease MICROPHTHALMIA, ISOLATED 8 OMIM:615113 DO:DOID:0060841 MESH:D008850 C11.250.566/615113|C16.131.384.666/615113 C11.250.566|C16.131.384.666 MCOP8 Congenital abnormality|Eye disease Microphthalmia, Isolated, with Cataract 1 MESH:C563582 OMIM:156850 MESH:D002386|MESH:D008850 C11.250.566/C563582|C11.510.245/C563582|C16.131.384.666/C563582 C11.250.566|C11.510.245|C16.131.384.666 Cataract, Congenital with Microphthalmia|CATARACT, CONGENITAL, WITH MICROPHTHALMIA|CATM|MCOPCT1 Congenital abnormality|Eye disease Microphthalmia, Isolated, with Cataract 2 MESH:C565876 OMIM:212550 MESH:D002386|MESH:D008850|MESH:D020417 C10.292.562.675.300/C565876|C11.250.566/C565876|C11.510.245/C565876|C11.590.400.300/C565876|C16.131.384.666/C565876|C16.614.643/C565876 C10.292.562.675.300|C11.250.566|C11.510.245|C11.590.400.300|C16.131.384.666|C16.614.643 MCOPCT2|Microphthalmia and Cataract 2|Microphthalmia, Cataract, and Nystagmus|ODRMD|OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY Congenital abnormality|Eye disease|Infant-newborn disease|Nervous system disease Microphthalmia, Isolated, with Cataract 3 MESH:C564452 MESH:D002386|MESH:D008850 C11.250.566/C564452|C11.510.245/C564452|C16.131.384.666/C564452 C11.250.566|C11.510.245|C16.131.384.666 Cataract, Congenital, with Microcornea and Microphthalmia|MCOPCT3|Microphthalmia and Cataract 3 Congenital abnormality|Eye disease Microphthalmia, Isolated, with Cataract 4 MESH:C566480 MESH:D002386|MESH:D008850 C11.250.566/C566480|C11.510.245/C566480|C16.131.384.666/C566480 C11.250.566|C11.510.245|C16.131.384.666 MCOPCT4 Congenital abnormality|Eye disease Microphthalmia, Isolated, with Coloboma 1 MESH:C564531 OMIM:300345 MESH:D003103|MESH:D008850|MESH:D040181 C11.250.110/C564531|C11.250.566/C564531|C11.270.147/C564531|C16.131.384.282/C564531|C16.131.384.666/C564531|C16.320.322/C564531 C11.250.110|C11.250.566|C11.270.147|C16.131.384.282|C16.131.384.666|C16.320.322 MCOPCB1|Microphthalmia, Colobomatous, Isolated 1 Congenital abnormality|Eye disease|Genetic disease (inborn) MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 OMIM:616428 MESH:D003103|MESH:D008850 C11.250.110/616428|C11.250.566/616428|C11.270.147/616428|C16.131.384.282/616428|C16.131.384.666/616428 C11.250.110|C11.250.566|C11.270.147|C16.131.384.282|C16.131.384.666 MCOPCB10 Congenital abnormality|Eye disease Microphthalmia, Isolated, with Coloboma 2 MESH:C565300 OMIM:605738 MESH:D003103|MESH:D008850 C11.250.110/C565300|C11.250.566/C565300|C11.270.147/C565300|C16.131.384.282/C565300|C16.131.384.666/C565300 C11.250.110|C11.250.566|C11.270.147|C16.131.384.282|C16.131.384.666 MCOPCB2|Microphthalmia, Colobomatous, Isolated 2 Congenital abnormality|Eye disease Microphthalmia, Isolated, with Coloboma 3 MESH:C566447 OMIM:610092 MESH:D003103|MESH:D008850 C11.250.110/C566447|C11.250.566/C566447|C11.270.147/C566447|C16.131.384.282/C566447|C16.131.384.666/C566447 C11.250.110|C11.250.566|C11.270.147|C16.131.384.282|C16.131.384.666 MCOPCB3|Microphthalmia, Colobomatous, Isolated 3|MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 3 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES, INCLUDED Congenital abnormality|Eye disease Microphthalmia, Isolated, with Coloboma 4 MESH:C565378 MESH:D003103|MESH:D008850 C11.250.110/C565378|C11.250.566/C565378|C11.270.147/C565378|C16.131.384.282/C565378|C16.131.384.666/C565378 C11.250.110|C11.250.566|C11.270.147|C16.131.384.282|C16.131.384.666 MCOPCB4|Microphthalmia With Colobomatous Cyst Congenital abnormality|Eye disease Microphthalmia, Isolated, with Coloboma 5 MESH:C566899 OMIM:611638 MESH:D003103|MESH:D008850 C11.250.110/C566899|C11.250.566/C566899|C11.270.147/C566899|C16.131.384.282/C566899|C16.131.384.666/C566899 C11.250.110|C11.250.566|C11.270.147|C16.131.384.282|C16.131.384.666 MCOPCB5 Congenital abnormality|Eye disease MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 OMIM:613703 MESH:D003103|MESH:D008850 C11.250.110/613703|C11.250.566/613703|C11.270.147/613703|C16.131.384.282/613703|C16.131.384.666/613703 C11.250.110|C11.250.566|C11.270.147|C16.131.384.282|C16.131.384.666 MCOPCB6 Congenital abnormality|Eye disease MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 OMIM:614497 MESH:D003103|MESH:D008850 C11.250.110/614497|C11.250.566/614497|C11.270.147/614497|C16.131.384.282/614497|C16.131.384.666/614497 C11.250.110|C11.250.566|C11.270.147|C16.131.384.282|C16.131.384.666 MCOPCB7 Congenital abnormality|Eye disease MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 OMIM:615145 MESH:D003103|MESH:D008850 C11.250.110/615145|C11.250.566/615145|C11.270.147/615145|C16.131.384.282/615145|C16.131.384.666/615145 C11.250.110|C11.250.566|C11.270.147|C16.131.384.282|C16.131.384.666 MCOPCB9|MCOPS15, INCLUDED|MICROPHTHALMIA AND/OR COLOBOMA WITH DEVELOPMENTAL DELAY, INCLUDED|MICROPHTHALMIA, SYNDROMIC 15, INCLUDED Congenital abnormality|Eye disease Microphthalmia, Isolated, With Corectopia MESH:C563581 MESH:D008850|MESH:D009216|MESH:D011681 C10.597.690/C563581|C11.250.566/C563581|C11.710/C563581|C11.744.636/C563581|C16.131.384.666/C563581|C23.888.592.708/C563581 C10.597.690|C11.250.566|C11.710|C11.744.636|C16.131.384.666|C23.888.592.708 MCOPCR|Microphthalmia And Corectopia|Microphthalmia With Myopia And Corectopia Congenital abnormality|Eye disease|Nervous system disease|Signs and symptoms Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen MESH:C567024 MESH:D008850|MESH:D012174|MESH:D015594 C10.292.700.450/C567024|C11.250.566/C567024|C11.270.684/C567024|C11.640.513/C567024|C11.768.585.658.500/C567024|C16.131.384.666/C567024|C16.320.290.684/C567024 C10.292.700.450|C11.250.566|C11.270.684|C11.640.513|C11.768.585.658.500|C16.131.384.666|C16.320.290.684 Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disk Drusen Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Microphthalmia, syndromic 1 MESH:C537464 OMIM:309800 MESH:D000853|MESH:D008850 C11.250.080/C537464|C11.250.566/C537464|C16.131.384.159/C537464|C16.131.384.666/C537464 C11.250.080|C11.250.566|C16.131.384.159|C16.131.384.666 ANOP1, FORMERLY|Lenz Dysmorphogenic Syndrome|Lenz dysplasia|Lenz microphthalmia syndrome|Lenz Syndrome|MAA, FORMERLY|MCOPS1|MCOPS4|MCOPS4, FORMERLY|Microphthalmia Or Anophthalmos with Associated Anomalies|Microphthalmia or anophthalmos with associated anomalies (formerly)|Microphthalmia, Syndromic 4|MICROPHTHALMIA, SYNDROMIC 4, FORMERLY|Microphthalmia With Ankyloblepharon And Mental Retardation Congenital abnormality|Eye disease Microphthalmia, Syndromic 10 MESH:C566985 MESH:D008850|MESH:D020271 C10.574.500/C566985|C11.250.566/C566985|C16.131.384.666/C566985|C16.320.400/C566985 C10.574.500|C11.250.566|C16.131.384.666|C16.320.400 MCOPS10|Microphthalmia and Brain Atrophy Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease MICROPHTHALMIA, SYNDROMIC 11 OMIM:614402 DO:DOID:0111804 MESH:D008850 C11.250.566/614402|C16.131.384.666/614402 C11.250.566|C16.131.384.666 MCOPS11 Congenital abnormality|Eye disease MICROPHTHALMIA, SYNDROMIC 12 OMIM:615524 DO:DOID:0111800 MESH:D008850 C11.250.566/615524|C16.131.384.666/615524 C11.250.566|C16.131.384.666 MCOPS12|MICROPHTHALMIA WITH OR WITHOUT PULMONARY HYPOPLASIA, DIAPHRAGMATIC HERNIA, AND/OR CARDIAC DEFECTS Congenital abnormality|Eye disease MICROPHTHALMIA, SYNDROMIC 13 OMIM:300915 DO:DOID:0111811 MESH:D008850 C11.250.566/300915|C16.131.384.666/300915 C11.250.566|C16.131.384.666 COLOBOMATOUS MICROPHTHALMIA WITH MICROCEPHALY, SHORT STATURE, AND PSYCHOMOTOR RETARDATION|MAINE MICROPHTHALMOS|MCOPS13 Congenital abnormality|Eye disease Microphthalmia, syndromic 2 MESH:C537465 DO:DOID:0111809|OMIM:300166 MESH:D002386|MESH:D006343|MESH:D008850 C11.250.566/C537465|C11.510.245/C537465|C14.240.400.560/C537465|C14.280.400.560/C537465|C16.131.240.400.560/C537465|C16.131.384.666/C537465 C11.250.566|C11.510.245|C14.240.400.560|C14.280.400.560|C16.131.240.400.560|C16.131.384.666 ANOP2, FORMERLY|Cataracts, microphthalmia, radiculomegaly and septal heart defects|MAA2, FORMERLY|Marashi Gorlin syndrome|MCOPS2|Microphthalmia, cataracts, radiculomegaly, and septal heart defects|Oculo facio cardio dental syndrome|Oculofaciocardiodental syndrome|OFCD Syndrome Cardiovascular disease|Congenital abnormality|Eye disease Microphthalmia, Syndromic 3 MESH:C565948 DO:DOID:0111801|OMIM:206900 MESH:D004933|MESH:D008850|MESH:D009421 C06.198.330/C565948|C06.405.117.260/C565948|C10.500/C565948|C11.250.566/C565948|C16.131.314.330/C565948|C16.131.384.666/C565948|C16.131.666/C565948 C06.198.330|C06.405.117.260|C10.500|C11.250.566|C16.131.314.330|C16.131.384.666|C16.131.666 AEG Syndrome|AEG SYNDROME OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, INCLUDED|Anophthalmia, Clinical, With Associated Anomalies|Anophthalmia-Esophageal-Genital Syndrome|MCOPS3|Microphthalmia And Esophageal Atresia Syndrome|Sox2 Anophthalmia Syndrome|Sox2-Related Eye Disorders|Syndromic Microphthalmia 3 Congenital abnormality|Digestive system disease|Eye disease|Nervous system disease Microphthalmia, Syndromic 5 MESH:C566441 DO:DOID:0111806|OMIM:610125 MESH:D008850 C11.250.566/C566441|C16.131.384.666/C566441 C11.250.566|C16.131.384.666 DYSFUNCTION, INCLUDED|MCOPS5|MICROPHTHALMIA, SYNDROMIC 5;MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY Congenital abnormality|Eye disease Microphthalmia, Syndromic 6 MESH:C566440 DO:DOID:0111805|OMIM:607932 MESH:D008850|MESH:D009421|MESH:D014564|MESH:D017880 C05.660.585/C566440|C10.500/C566440|C11.250.566/C566440|C12.050.351.875/C566440|C12.200.706/C566440|C12.800/C566440|C16.131.384.666/C566440|C16.131.621.585/C566440|C16.131.666/C566440|C16.131.939/C566440 C05.660.585|C10.500|C11.250.566|C12.050.351.875|C12.200.706|C12.800|C16.131.384.666|C16.131.621.585|C16.131.666|C16.131.939 Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia|MCOPS6|Microphthalmia And Pituitary Anomalies|Microphthalmia With Brain And Digit Developmental Anomalies Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Microphthalmia, syndromic 7 MESH:C537466 DO:DOID:0111808|OMIM:309801 MESH:D008850|MESH:D012868|MESH:D040181 C11.250.566/C537466|C16.131.384.666/C537466|C16.131.831/C537466|C16.320.322/C537466|C17.800.804/C537466 C11.250.566|C16.131.384.666|C16.131.831|C16.320.322|C17.800.804 Linear skin defects with multiple congenital anomalies 1|LSDMCA1|MCOPS7|Microphthalmia, dermal aplasia, and sclerocornea|MICROPHTHALMIA, SYNDROMIC 7|Microphthalmia with linear skin defects|Microphthalmia with Linear Skin Defects Syndrome|Microphthalmia with Linear Skin Lesions Syndrome|Midas Syndrome|MLS|Syndromic Microphthalmia-7 Congenital abnormality|Eye disease|Genetic disease (inborn)|Skin disease Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies MESH:C564370 MESH:D008850|MESH:D017880|MESH:D019465 C05.660.207/C564370|C05.660.585/C564370|C11.250.566/C564370|C16.131.384.666/C564370|C16.131.621.207/C564370|C16.131.621.585/C564370 C05.660.207|C05.660.585|C11.250.566|C16.131.384.666|C16.131.621.207|C16.131.621.585 Congenital abnormality|Eye disease|Musculoskeletal disease Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies MESH:C566884 MESH:D006956|MESH:D008850|MESH:D012162 C11.250.566/C566884|C11.270.612/C566884|C11.744.479/C566884|C11.768.585/C566884|C16.131.384.666/C566884 C11.250.566|C11.270.612|C11.744.479|C11.768.585|C16.131.384.666 Congenital abnormality|Eye disease Microphthalmos MESH:D008850 DO:DOID:10629 Congenital or developmental anomaly in which the eyeballs are abnormally small. MESH:D005124 C11.250.566|C16.131.384.666 C11.250|C16.131.384 Microphthalmia Congenital abnormality|Eye disease Microsatellite Instability MESH:D053842 The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR. MESH:D042822 C23.550.362.590 C23.550.362 Error Phenotype, Replication|Error Phenotypes, Replication|Instability, Microsatellite|Phenotype, Replication Error|Phenotypes, Replication Error|Replication Error Phenotype|Replication Error Phenotypes Pathology (process) Microscopic Polyangiitis MESH:D055953 A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls. MESH:D056648|MESH:D059345 C10.228.140.300.275.600|C14.907.253.329.600|C14.907.940.897.249.500|C17.800.862.105.750|C20.111.193.750 C10.228.140.300.275|C14.907.253.329|C14.907.940.897.249|C17.800.862.105|C20.111.193 Microscopic Polyangiitides|Polyangiitides, Microscopic|Polyangiitis, Microscopic Cardiovascular disease|Immune system disease|Nervous system disease|Skin disease Microspherophakia MESH:C563255 MESH:D003316|MESH:D004479|MESH:D005901 C11.204/C563255|C11.250.300/C563255|C11.510.598.373/C563255|C11.525.381/C563255|C16.131.384.405/C563255 C11.204|C11.250.300|C11.510.598.373|C11.525.381|C16.131.384.405 Congenital abnormality|Eye disease MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA OMIM:251750 MESH:C562829|MESH:C563255|MESH:D004479 C11.204/C563255/251750|C11.250.300/251750|C11.250.300/C563255/251750|C11.270/C562829/251750|C11.510.598.373/251750|C11.510.598.373/C563255/251750|C11.525.381/C563255/251750|C16.131.384.405/251750|C16.131.384.405/C563255/251750|C16.320.290/C562829/251750|C16.320.322/C562829/251750 C11.204/C563255|C11.250.300|C11.250.300/C563255|C11.270/C562829|C11.510.598.373|C11.510.598.373/C563255|C11.525.381/C563255|C16.131.384.405|C16.131.384.405/C563255|C16.320.290/C562829|C16.320.322/C562829 MSPKA Congenital abnormality|Eye disease|Genetic disease (inborn) Microspherophakia with hernia MESH:C537468 MESH:D000015|MESH:D006552 C16.131.077/C537468|C23.300.707.374.875/C537468 C16.131.077|C23.300.707.374.875 Congenital abnormality|Pathology (anatomical condition) Microsporidiosis MESH:D016881 DO:DOID:4271 Infections with FUNGI of the phylum MICROSPORIDIA. MESH:D009181 C01.150.703.617 C01.150.703 Infection, Microspora|Infection, Microsporidia|Infections, Microspora|Infections, Microsporidia|Microspora Infection|Microspora Infections|Microsporidia Infection|Microsporidia Infections|Microsporidioses Bacterial infection or mycosis Microstomia MESH:D008865 A congenital defect in which the mouth is unusually small. (Dorland, 27th ed) MESH:D009056 C07.465.525.520|C07.650.525.520|C16.131.850.525.520 C07.465.525|C07.650.525|C16.131.850.525 Microstomias Congenital abnormality|Mouth disease Microtia-Anotia MESH:C563457 OMIM:600674 MESH:D065817 C09.218.235/C563457|C16.131.287/C563457 C09.218.235|C16.131.287 Congenital abnormality|Ear-nose-throat disease Microtia, Hearing Impairment, And Cleft Palate MESH:C567359 OMIM:612290 MESH:D002972|MESH:D034381|MESH:D065817 C05.500.460.185/C567359|C05.660.207.540.460.185/C567359|C07.320.440.185/C567359|C07.465.525.185/C567359|C07.650.500.460.185/C567359|C07.650.525.185/C567359|C09.218.235/C567359|C09.218.458.341/C567359|C10.597.751.418.341/C567359|C16.131.287/C567359|C16.131.621.207.540.460.185/C567359|C16.131.850.500.460.185/C567359|C16.131.850.525.185/C567359|C23.888.592.763.393.341/C567359 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C09.218.235|C09.218.458.341|C10.597.751.418.341|C16.131.287|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C23.888.592.763.393.341 MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT, INCLUDED Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Microtia, meatal atresia and conductive deafness MESH:C537469 MESH:D006314|MESH:D065817 C09.218.235/C537469|C09.218.458.341.562/C537469|C10.597.751.418.341.562/C537469|C16.131.287/C537469|C23.888.592.763.393.341.562/C537469 C09.218.235|C09.218.458.341.562|C10.597.751.418.341.562|C16.131.287|C23.888.592.763.393.341.562 Familial microtia and meatal atresia|Familial microtia with meatal atresia and conductive deafness|Gupta Patton syndrome|Microtia meatal atresia deafness dominant|Microtia with meatal atresia and conductive deafness Congenital abnormality|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma MESH:C567512 OMIM:611863 MESH:D003103|MESH:D065817 C09.218.235/C567512|C11.250.110/C567512|C11.270.147/C567512|C16.131.287/C567512|C16.131.384.282/C567512 C09.218.235|C11.250.110|C11.270.147|C16.131.287|C16.131.384.282 Congenital abnormality|Ear-nose-throat disease|Eye disease Microtrauma, Physical MESH:D000070617 Small injuries caused by external force applied to the body including bones, muscles, nerves and tendons. MESH:D014947 C26.599 C26 Micro Trauma, Physical|Microtraumas, Physical|Micro Traumas, Physical|Physical Microtrauma|Physical Micro Trauma|Physical Microtraumas|Physical Micro Traumas|Trauma, Physical Micro|Traumas, Physical Micro Wounds and injuries Microvascular Angina MESH:D017566 ANGINA PECTORIS or angina-like chest pain with a normal coronary arteriogram and positive EXERCISE TEST. The cause of the syndrome is unknown. While its recognition is of clinical importance, its prognosis is excellent. (Braunwald, Heart Disease, 4th ed, p1346; Jablonski Dictionary of Syndromes & Eponymic Diseases, 2d ed). It is different from METABOLIC SYNDROME X, a syndrome characterized by INSULIN RESISTANCE and HYPERINSULINEMIA, that has increased risk for cardiovascular disease. MESH:D000787 C14.280.647.187.575|C14.907.585.187.575 C14.280.647.187|C14.907.585.187 Angina, Microvascular|Angina Pectoris with Normal Coronary Arteriogram|Angina Syndrome X|Angina Syndrome Xs|Angina X Syndrome|Angina X Syndromes|Cardiac Syndrome X|Syndrome, Angina X|Syndrome X, Angina|Syndrome X, Cardiac|Syndrome Xs, Angina|X Syndrome, Angina Cardiovascular disease MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1 OMIM:603933 MESH:D003925|MESH:D003928|MESH:D003930 C11.768.257/603933|C12.050.351.968.419.192/603933|C12.200.777.419.192/603933|C12.950.419.192/603933|C14.907.320.382/603933|C14.907.320/603933|C19.246.099.500.382/603933|C19.246.099.500/603933|C19.246.099.875/603933 C11.768.257|C12.050.351.968.419.192|C12.200.777.419.192|C12.950.419.192|C14.907.320|C14.907.320.382|C19.246.099.500|C19.246.099.500.382|C19.246.099.875 END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO, INCLUDED|MICROVASCULAR COMPLICATIONS OF DIABETES, PROTECTION AGAINST, INCLUDED|MVCD1|NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED|NEUROPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED|NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED|NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, INCLUDED|PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO|PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED Cardiovascular disease|Endocrine system disease|Eye disease|Urogenital disease (female)|Urogenital disease (male) MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 OMIM:612623 MESH:D003925 C14.907.320/612623|C19.246.099.500/612623 C14.907.320|C19.246.099.500 END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO|MVCD2|PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO Cardiovascular disease|Endocrine system disease MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 OMIM:612624 MESH:D003925 C14.907.320/612624|C19.246.099.500/612624 C14.907.320|C19.246.099.500 END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO|MVCD3|NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO Cardiovascular disease|Endocrine system disease MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 OMIM:612628 MESH:D003925|MESH:D003928 C12.050.351.968.419.192/612628|C12.200.777.419.192/612628|C12.950.419.192/612628|C14.907.320/612628|C19.246.099.500/612628|C19.246.099.875/612628 C12.050.351.968.419.192|C12.200.777.419.192|C12.950.419.192|C14.907.320|C19.246.099.500|C19.246.099.875 MVCD4|NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO Cardiovascular disease|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 OMIM:612633 MESH:D003925|MESH:D003928 C12.050.351.968.419.192/612633|C12.200.777.419.192/612633|C12.950.419.192/612633|C14.907.320/612633|C19.246.099.500/612633|C19.246.099.875/612633 C12.050.351.968.419.192|C12.200.777.419.192|C12.950.419.192|C14.907.320|C19.246.099.500|C19.246.099.875 MVCD5|RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO Cardiovascular disease|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 OMIM:612634 MESH:D003925|MESH:D003928 C12.050.351.968.419.192/612634|C12.200.777.419.192/612634|C12.950.419.192/612634|C14.907.320/612634|C19.246.099.500/612634|C19.246.099.875/612634 C12.050.351.968.419.192|C12.200.777.419.192|C12.950.419.192|C14.907.320|C19.246.099.500|C19.246.099.875 MVCD6|NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO Cardiovascular disease|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 OMIM:612635 MESH:D003925 C14.907.320/612635|C19.246.099.500/612635 C14.907.320|C19.246.099.500 MVCD7|NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO|NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO|PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO Cardiovascular disease|Endocrine system disease Microvascular Rarefaction MESH:D000073436 The reduction in density of the MICROVASCULATURE. MESH:D020763 C23.300.818 C23.300 Capillary Rarefaction|Capillary Rarefactions|Microvascular Rarefactions|Microvasculature Rarefaction|Microvasculature Rarefactions|Rarefaction, Capillary|Rarefaction, Microvascular|Rarefaction, Microvasculature|Rarefactions, Capillary|Rarefactions, Microvascular|Rarefactions, Microvasculature|Rarefactions, Vascular|Rarefaction, Vascular|Vascular Rarefaction|Vascular Rarefactions Pathology (anatomical condition) Microvillus inclusion disease MESH:C537470 DO:DOID:0060775|OMIM:251850 MESH:D008286|MESH:D009081 C05.116.198.371/C537470|C06.405.469.637/C537470|C10.228.140.163.100.435.590/C537470|C16.320.565.189.435.590/C537470|C16.320.565.202.670/C537470|C16.320.565.595.554.590/C537470|C18.452.132.100.435.590/C537470|C18.452.603/C537470|C18.452.648.189.435.590/C537470|C18.452.648.202.670/C537470|C18.452.648.595.554.590/C537470 C05.116.198.371|C06.405.469.637|C10.228.140.163.100.435.590|C16.320.565.189.435.590|C16.320.565.202.670|C16.320.565.595.554.590|C18.452.132.100.435.590|C18.452.603|C18.452.648.189.435.590|C18.452.648.202.670|C18.452.648.595.554.590 Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities|Davidson disease|DIAR2|Diarrhea 2, With Microvillus Atrophy|DIARRHEA 2, WITH MICROVILLUS ATROPHY, WITH OR WITHOUT CHOLESTASIS|Intractable diarrhea of infancy|Microvillus atrophy, congenital|MICROVILLUS INCLUSION DISEASE 1|MVID1 Digestive system disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Middle East respiratory syndrome vaccine MESH:C000705427 MESH:D018352 C01.925.782.600.550.200/C000705427 C01.925.782.600.550.200 ChAdOx1 MERS|ChAdOx1 MERS vaccine|Middle East respiratory syndrome vaccine ChAdOx1 MERS Viral disease Middle Lobe Syndrome MESH:D008878 DO:DOID:2810 Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed) MESH:D001261 C08.381.730.542 C08.381.730 Brock's Syndrome|Brocks Syndrome|Brock Syndrome|Syndrome, Brock's|Syndromes, Middle Lobe Respiratory tract disease MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS OMIM:300990 DO:DOID:0111859 MESH:D004612|MESH:D009397|MESH:D019465|MESH:D034381 C05.660.207/300990|C09.218.458.341/300990|C10.597.751.418.341/300990|C12.050.351.968.419.590/300990|C12.200.777.419.590/300990|C12.950.419.590/300990|C15.378.071.141.150.365/300990|C16.131.621.207/300990|C16.320.070.365/300990|C18.452.174.130.560/300990|C23.888.592.763.393.341/300990 C05.660.207|C09.218.458.341|C10.597.751.418.341|C12.050.351.968.419.590|C12.200.777.419.590|C12.950.419.590|C15.378.071.141.150.365|C16.131.621.207|C16.320.070.365|C18.452.174.130.560|C23.888.592.763.393.341 MFHIEN Blood disease|Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia MESH:C563896 MESH:D002658|MESH:D009123|MESH:D009765|MESH:D019465 C05.660.207/C563896|C10.597.613.575/C563896|C16.131.621.207/C563896|C18.654.726.750.500/C563896|C23.888.144.699.500/C563896|C23.888.592.608.575/C563896|F03.625.421/C563896 C05.660.207|C10.597.613.575|C16.131.621.207|C18.654.726.750.500|C23.888.144.699.500|C23.888.592.608.575|F03.625.421 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Nutrition disorder|Signs and symptoms Midline brainstem cleft MESH:C000719407 MESH:D009421|MESH:D012868|MESH:D019465 C05.660.207/C000719407|C10.500/C000719407|C16.131.621.207/C000719407|C16.131.666/C000719407|C16.131.831/C000719407|C17.800.804/C000719407 C05.660.207|C10.500|C16.131.621.207|C16.131.666|C16.131.831|C17.800.804 Congenital midline cervical cleft|Median fissure of the neck|Midline brain stem cleft|Midline cervical cleft|Midline cervical webbing|Pterygium colli medianum Congenital abnormality|Musculoskeletal disease|Nervous system disease|Skin disease Midline Defects, X-Linked MESH:C564054 MESH:D009436|MESH:D040181 C10.500.680/C564054|C16.131.666.680/C564054|C16.320.322/C564054 C10.500.680|C16.131.666.680|C16.320.322 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Midline granulomatosis MESH:C538667 MESH:D014890 C08.381.483.950/C538667|C14.907.940.897.249.750/C538667|C17.800.862.105.875/C538667|C20.111.193.875/C538667 C08.381.483.950|C14.907.940.897.249.750|C17.800.862.105.875|C20.111.193.875 Cardiovascular disease|Immune system disease|Respiratory tract disease|Skin disease Midphalangeal hair MESH:C537471 MESH:D006983 C17.800.329.875/C537471 C17.800.329.875 Middigital hair Skin disease Migraine Disorders MESH:D008881 DO:DOID:6364 A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) MESH:D051270 C10.228.140.546.399.750 C10.228.140.546.399 Abdominal Migraine|Abdominal Migraines|Acute Confusional Migraine|Acute Confusional Migraines|Cervical Migraine Syndrome|Cervical Migraine Syndromes|Disorder, Migraine|Disorders, Migraine|Headache, Migraine|Headache, Sick|Headaches, Migraine|Headaches, Sick|Hemicrania Migraine|Hemicrania Migraines|Migraine|Migraine, Abdominal|Migraine, Acute Confusional|Migraine Disorder|Migraine Headache|Migraine Headaches|Migraine, Hemicrania|Migraines|Migraines, Abdominal|Migraines, Acute Confusional|Migraines, Hemicrania|Migraine Syndrome, Cervical|Migraine Syndromes, Cervical|Migraine Variant|Migraine Variants|Sick Headache|Sick Headaches|Status Migrainosus|Variant, Migraine|Variants, Migraine Nervous system disease Migraine, Familial Basilar MESH:C566540 MESH:D008881 C10.228.140.546.399.750/C566540 C10.228.140.546.399.750 Nervous system disease Migraine, Familial Hemiplegic, 3 MESH:C566500 OMIM:609634 MESH:D008881 C10.228.140.546.399.750/C566500 C10.228.140.546.399.750 FHM3 Nervous system disease Migraine, Familial Hemiplegic, 4 MESH:C564385 MESH:D008881 C10.228.140.546.399.750/C564385 C10.228.140.546.399.750 Nervous system disease Migraine, Sporadic Hemiplegic MESH:C563405 MESH:D020325 C10.228.140.546.399.750.250/C563405 C10.228.140.546.399.750.250 Nervous system disease Migraine with Aura MESH:D020325 DO:DOID:10024|OMIM:609179|OMIM:609670 A subtype of migraine disorder, characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred VISION; HALLUCINATIONS; VERTIGO; NUMBNESS; and difficulty in concentrating and speaking. Aura is usually followed by features of the COMMON MIGRAINE, such as PHOTOPHOBIA; PHONOPHOBIA; and NAUSEA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) MESH:D008881 C10.228.140.546.399.750.250 C10.228.140.546.399.750 Acute Onset Aura Migraine|Basilar Artery Migraine|Basilar Migraine|Basilar Migraines|Basilar Type Migraine|Basilar-Type Migraine|Classical Migraine|Classic Migraine|Complicated Migraine|Familial Hemiplegic Migraine|Familial Hemiplegic Migraines|Hemiplegic Migraine, Familial|Hemiplegic-Ophthalmoplegic Migraine|MGR7|MGR9|Migraine Aura without Headache|Migraine, Basilar|Migraine, Basilar Artery|Migraine, Basilar-Type|Migraine, Classic|Migraine, Classical|Migraine, Complicated|Migraine, Prolonged Aura|Migraine with Acute Onset Aura|Migraine with Auras|MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 7|MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 9|Migraine with Prolonged Aura|Migraine with Typical Aura|Prolonged Aura Migraine|Typical Aura without Headache Nervous system disease MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 13 OMIM:613656 MESH:D020325|MESH:D020326 C10.228.140.546.399.750.250/613656|C10.228.140.546.399.750.450/613656 C10.228.140.546.399.750.250|C10.228.140.546.399.750.450 MGR13 Nervous system disease MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 OMIM:157300 DO:DOID:6364 MESH:D020325|MESH:D020326 C10.228.140.546.399.750.250/157300|C10.228.140.546.399.750.450/157300 C10.228.140.546.399.750.250|C10.228.140.546.399.750.450 MA|MGAU|MGR1|MIGRAINE Nervous system disease MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12 OMIM:611706 MESH:D020325|MESH:D020326 C10.228.140.546.399.750.250/611706|C10.228.140.546.399.750.450/611706 C10.228.140.546.399.750.250|C10.228.140.546.399.750.450 MGR12 Nervous system disease MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 2 OMIM:300125 MESH:D020325|MESH:D020326 C10.228.140.546.399.750.250/300125|C10.228.140.546.399.750.450/300125 C10.228.140.546.399.750.250|C10.228.140.546.399.750.450 MFTS|MGR2 Nervous system disease MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3 OMIM:607498 MESH:D020325|MESH:D020326 C10.228.140.546.399.750.250/607498|C10.228.140.546.399.750.450/607498 C10.228.140.546.399.750.250|C10.228.140.546.399.750.450 MGR3 Nervous system disease MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5 OMIM:607508 MESH:D020325|MESH:D020326 C10.228.140.546.399.750.250/607508|C10.228.140.546.399.750.450/607508 C10.228.140.546.399.750.250|C10.228.140.546.399.750.450 MGR5 Nervous system disease MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6 OMIM:607516 MESH:D020325|MESH:D020326 C10.228.140.546.399.750.250/607516|C10.228.140.546.399.750.450/607516 C10.228.140.546.399.750.250|C10.228.140.546.399.750.450 FHM4, INCLUDED|MGR6 MIGRAINE, FAMILIAL HEMIPLEGIC, 4, INCLUDED Nervous system disease MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 8 OMIM:609570 MESH:D020325|MESH:D020326 C10.228.140.546.399.750.250/609570|C10.228.140.546.399.750.450/609570 C10.228.140.546.399.750.250|C10.228.140.546.399.750.450 MGR8 Nervous system disease Migraine without Aura MESH:D020326 DO:DOID:12783|OMIM:607501 Recurrent unilateral pulsatile headaches, not preceded or accompanied by an aura, in attacks lasting 4-72 hours. It is characterized by PAIN of moderate to severe intensity; aggravated by physical activity; and associated with NAUSEA and / or PHOTOPHOBIA and PHONOPHOBIA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) MESH:D008881 C10.228.140.546.399.750.450 C10.228.140.546.399.750 Common Migraine|Common Migraines|MGOA|MGR4|Migraine, Common|Migraines, Common|MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4 Nervous system disease Mikulicz' Disease MESH:D008882 DO:DOID:12900 A chronic, benign, and usually painless inflammatory swelling of the lacrimal and salivary glands. It is considered by some to include the glandular enlargement associated with other diseases, such as Sjogren's syndrome, sarcoidosis, lupus erythematosus, etc. MESH:D012466 C07.465.815.355 C07.465.815 Mikulicz Disease|Mikulicz's Disease|Mikuliczs Disease Mouth disease Milia, Multiple Eruptive MESH:C562823 MESH:D007642 C17.800.428/C562823 C17.800.428 Multiple eruptive milia Skin disease Miliaria MESH:D008883 DO:DOID:11153|DO:DOID:1382 A syndrome of cutaneous changes associated with sweat retention and extravasation of sweat at different levels in the skin. Miliaria rubra, or prickly heat, results from apocrine duct obstruction. The sweat then seeps into the epidermis, producing pruritic erythematous papulovesicles. (From Dorland, 27th ed) MESH:D013543 C17.800.946.492 C17.800.946 Heat, Prickly|Miliaria Rubra|Prickly Heat Skin disease Military Sexual Trauma MESH:D000094964 Physical and psychological injuries resulting from SEXUAL VIOLENCE during MILITARY service. MESH:D000082002 F03.950.750.438.500 F03.950.750.438 Military Sexual Traumas|Sexual Trauma, Military|Sexual Traumas, Military|Trauma, Military Sexual|Traumas, Military Sexual Mental disorder Milk Hypersensitivity MESH:D016269 DO:DOID:4376 Allergic reaction to milk (usually cow's milk) or milk products. MILK HYPERSENSITIVITY should be differentiated from LACTOSE INTOLERANCE, an intolerance to milk as a result of congenital deficiency of lactase. MESH:D005512 C20.543.480.370.500 C20.543.480.370 Allergy, Cow's Milk|Allergy, Milk|Cow Milk Allergy|Cow's Milk Allergies|Cow's Milk Allergy|Cows Milk Allergy|Cow's Milk Protein Allergy|Hypersensitivity, Milk|Milk Allergies|Milk Allergy|Milk Allergy, Cow's|Milk Hypersensitivities Immune system disease Milk Sickness MESH:D018602 An acute, often fatal disease caused by the ingestion of milk, milk products, or the flesh of cattle or sheep which have a disease known as trembles. It is marked by weakness, anorexia, vomiting, constipation, and sometimes muscular tremors. It is caused by poisoning by white snakeroot (Eupatorium rugosum) and the rayless goldenrod (Haplopappus heterophyllus). (From Dorland, 27th ed) MESH:D010939 C25.723.756.600 C25.723.756 Sickness, Milk Miller Fisher Syndrome MESH:D019846 DO:DOID:12889 A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8) MESH:D002526|MESH:D015835|MESH:D020275 C10.114.750.100.500|C10.228.140.252.500|C10.292.562.350|C10.314.750.450.500|C10.668.829.800.750.300.500|C11.590.312|C20.111.258.750.400.500 C10.114.750.100|C10.228.140.252|C10.292.562|C10.314.750.450|C10.668.829.800.750.300|C11.590|C20.111.258.750.400 Fisher Syndrome|Guillain Barre Syndrome, Miller Fisher Variant|Guillain-Barre Syndrome, Miller Fisher Variant|Miller-Fisher Syndrome|Miller Fisher Variant of Guillain Barre Syndrome|Ophthalmoplegia, Ataxia and Areflexia Syndrome|Syndrome, Fisher|Syndrome, Miller Fisher|Syndrome, Miller-Fisher Eye disease|Immune system disease|Nervous system disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) MESH:C535314 DO:DOID:0060241|OMIM:273750 MESH:D004392|MESH:D009123 C05.116.099.343/C535314|C10.597.613.575/C535314|C16.320.240/C535314|C19.297/C535314|C23.888.592.608.575/C535314 C05.116.099.343|C10.597.613.575|C16.320.240|C19.297|C23.888.592.608.575 3M1|3-M Syndrome|3M Syndrome|Dolichospondylic Dysplasia|Gloomy Face Syndrome|GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME, INCLUDED|Le Merrer Syndrome|Miller-McKusick-Malvaux-Syndrome|Three-M Slender-Boned Nanism|Three M Syndrome|Three M Syndrome 1|Yakut Short Stature Syndrome Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Milner Khallouf Gibson syndrome MESH:C537473 MESH:D005199|MESH:D006130|MESH:D008831|MESH:D008844 C05.500.460.457/C537473|C05.660.207.540.460.457/C537473|C05.660.207.620/C537473|C07.320.440.457/C537473|C07.650.500.460.457/C537473|C10.500.507.400.500/C537473|C15.378.071.085.080.280/C537473|C15.378.190.223.500.500.280/C537473|C16.131.621.207.540.460.457/C537473|C16.131.621.207.620/C537473|C16.131.666.507.400.500/C537473|C16.131.850.500.460.457/C537473|C16.320.077.280/C537473|C18.452.284.280/C537473|C23.550.393/C537473 C05.500.460.457|C05.660.207.540.460.457|C05.660.207.620|C07.320.440.457|C07.650.500.460.457|C10.500.507.400.500|C15.378.071.085.080.280|C15.378.190.223.500.500.280|C16.131.621.207.540.460.457|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.850.500.460.457|C16.320.077.280|C18.452.284.280|C23.550.393 Blood disease|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process) Mineralocorticoid Deficiency, Isolated MESH:C567596 MESH:D000312|MESH:D007006 C12.050.351.875.253.090.500/C567596|C12.200.706.316.090.500/C567596|C12.800.316.090.500/C567596|C16.131.939.316.129.500/C567596|C16.320.033/C567596|C16.320.565.925.249/C567596|C18.452.648.925.249/C567596|C19.053.440/C567596|C19.391.119.090.500/C567596|C19.391.482/C567596 C12.050.351.875.253.090.500|C12.200.706.316.090.500|C12.800.316.090.500|C16.131.939.316.129.500|C16.320.033|C16.320.565.925.249|C18.452.648.925.249|C19.053.440|C19.391.119.090.500|C19.391.482 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Mineralocorticoid Excess Syndrome, Apparent MESH:D043204 DO:DOID:4367 A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS. MESH:D043202 C16.320.565.925.500|C18.452.648.925.500 C16.320.565.925|C18.452.648.925 Apparent Mineralocorticoid Excess Syndrome Genetic disease (inborn)|Metabolic disease Minicore myopathy, antenatal onset, with arthrogryposis MESH:C537474 MESH:D001176 C05.550.150/C537474|C05.651.102/C537474|C05.660.077/C537474|C16.131.621.077/C537474 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Multicore myopathy, antenatal onset, with arthrogryposis|Multiminicore myopathy, antenatal onset, with arthrogryposis Congenital abnormality|Musculoskeletal disease Minicore Myopathy, Moderate, with Hand Involvement MESH:C566147 MESH:D020512 C05.651.575.300/C566147|C10.668.491.550.300/C566147 C05.651.575.300|C10.668.491.550.300 Multicore Myopathy, Moderate, with Hand Involvement|Multiminicore Disease, Moderate, with Hand Involvement Musculoskeletal disease|Nervous system disease Minicore Myopathy with External Ophthalmoplegia MESH:C564969 OMIM:255320 MESH:D009886|MESH:D020914 C05.651.575/C564969|C10.292.562.750/C564969|C10.597.622.447/C564969|C10.668.491.550/C564969|C11.590.472/C564969|C23.888.592.636.447/C564969 C05.651.575|C10.292.562.750|C10.597.622.447|C10.668.491.550|C11.590.472|C23.888.592.636.447 CMYP1B|CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE|Minicore Disease|Minicore Myopathy|MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA|Multicore Disease|Multicore Myopathy|Multicore Myopathy With External Ophthalmoplegia|Multiminicore Disease|Multi-Minicore Disease|Multiminicore Disease With External Ophthalmoplegia|Multiminicore Myopathy Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Mink Viral Enteritis MESH:D053489 A highly contagious parvovirus infection in mink, caused by MINK ENTERITIS VIRUS or the closely related FELINE PANLEUKOPENIA VIRUS or CANINE PARVOVIRUS. Transmission usually occurs by the fecal/oral route. MESH:D000820|MESH:D010322 C01.925.256.700.550|C22.557 C01.925.256.700|C22 Enteritides, Mink Viral|Enteritis, Infectious, of Mink|Enteritis, Mink Viral|Mink Viral Enteritides|Viral Enteritides, Mink|Viral Enteritis, Mink Animal disease|Viral disease MINOCA MESH:D000088442 Myocardial infarction in the absence of obstructive coronary artery disease. CORONARY CIRCULATION disruption is due to various other factors such as ATHEROSCLEROTIC PLAQUE and CORONARY VASOSPASM. MESH:D009203 C14.280.647.500.328|C14.907.585.500.422|C23.550.513.355.750.328|C23.550.717.489.750.328 C14.280.647.500|C14.907.585.500|C23.550.513.355.750|C23.550.717.489.750 Myocardial Infarction and Non obstructed Coronary Arteries|Myocardial Infarction and Non-obstructed Coronary Arteries|Myocardial Infarction and Nonobstructed Coronary Arteries|Myocardial Infarction with Non obstructive Coronary Arteries|Myocardial Infarction with Non-obstructive Coronary Arteries|Myocardial Infarction with Nonobstructive Coronary Arteries Cardiovascular disease|Pathology (process) Miosis MESH:D015877 Pupillary constriction. This may result from congenital absence of the dilatator pupillary muscle, defective sympathetic innervation, or irritation of the CONJUNCTIVA or CORNEA. MESH:D011681 C10.597.690.362|C11.710.528|C23.888.592.708.362 C10.597.690|C11.710|C23.888.592.708 Constricted Pupil|Constricted Pupils|Mioses|Mioses, Persistent|Mioses, Pupillary|Miosis, Persistent|Miosis, Pupillary|Persistent Mioses|Persistent Miosis|Pupil, Constricted|Pupillary Mioses|Pupillary Miosis|Pupils, Constricted|Pupil, Small|Pupils, Small|Small Pupil|Small Pupils Eye disease|Nervous system disease|Signs and symptoms MIRAGE SYNDROME OMIM:617053 MESH:D000309|MESH:D006130|MESH:D007239|MESH:D007410|MESH:D009190|MESH:D014564 C01/617053|C06.405.469/617053|C12.050.351.875/617053|C12.200.706/617053|C12.800/617053|C15.378.190.625/617053|C16.131.939/617053|C19.053.500/617053|C23.550.393/617053 C01|C06.405.469|C12.050.351.875|C12.200.706|C12.800|C15.378.190.625|C16.131.939|C19.053.500|C23.550.393 MIRAGE|MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY Blood disease|Congenital abnormality|Digestive system disease|Endocrine system disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Mirizzi Syndrome MESH:D057792 Complication of CHOLELITHIASIS characterized by OBSTRUCTIVE JAUNDICE; abdominal pain, and fever. MESH:D002779 C06.130.120.135.812 C06.130.120.135 Mirizzi's Syndrome|Mirizzis Syndrome|Syndrome, Mirizzi|Syndrome, Mirizzi's Digestive system disease MIRROR MOVEMENTS 1 OMIM:157600 MESH:D020820 C10.228.662.262/157600|C10.597.350/157600|C23.888.592.350/157600 C10.228.662.262|C10.597.350|C23.888.592.350 BIMANUAL SYNERGIA|MIRROR MOVEMENTS 1 AND/OR AGENESIS OF THE CORPUS CALLOSUM|MIRROR MOVEMENTS, CONGENITAL|MRMV1 Nervous system disease|Signs and symptoms MIRROR MOVEMENTS 2 OMIM:614508 MESH:D020820 C10.228.662.262/614508|C10.597.350/614508|C23.888.592.350/614508 C10.228.662.262|C10.597.350|C23.888.592.350 MRMV2 Nervous system disease|Signs and symptoms MIRROR MOVEMENTS 3 OMIM:616059 MESH:D020820 C10.228.662.262/616059|C10.597.350/616059|C23.888.592.350/616059 C10.228.662.262|C10.597.350|C23.888.592.350 MRMV3 Nervous system disease|Signs and symptoms misophonia MESH:C000719531 MESH:D006311 C09.218.458/C000719531|C10.597.751.418/C000719531|C23.888.592.763.393/C000719531 C09.218.458|C10.597.751.418|C23.888.592.763.393 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Mitchell-Riley Syndrome MESH:C567570 OMIM:615710 MESH:D003920|MESH:D005705|MESH:D007409 C06.130.564/C567570|C06.198.719/C567570|C06.405.469.445/C567570|C16.131.314.466/C567570|C18.452.394.750/C567570|C19.246/C567570 C06.130.564|C06.198.719|C06.405.469.445|C16.131.314.466|C18.452.394.750|C19.246 DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA|MTCHRS Congenital abnormality|Digestive system disease|Endocrine system disease|Metabolic disease Mite Infestations MESH:D008924 DO:DOID:7894 Infestations with arthropods of the subclass ACARI, superorder Acariformes. MESH:D004478 C01.610.858.211.480 C01.610.858.211 Acariasis|Infestation, Mite|Infestations, Mite|Mange|Mite Infestation Parasitic disease Mitochondrial complex I deficiency MESH:C537475 DO:DOID:0060536|OMIM:252010 MESH:D028361 C18.452.660/C537475 C18.452.660 MC1DN1|MITOCHONDRIAL COMPLEX I DEFICIENCY|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1|Mitochondrial NADH dehydrogenase component of complex I, deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH coenzyme q reductase deficiency|NADH:Q(1) Oxidoreductase deficiency Metabolic disease Mitochondrial Complex II Deficiency MESH:C565375 DO:DOID:0060537|OMIM:252011 MESH:D008661|MESH:D028361 C16.320.565/C565375|C18.452.648/C565375|C18.452.660/C565375 C16.320.565|C18.452.648|C18.452.660 MC2DN1|MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1|Succinate CoQ Reductase Deficiency|SUCCINATE DEHYDROGENASE DEFICIENCY Genetic disease (inborn)|Metabolic disease Mitochondrial Complex III Deficiency MESH:C565128 DO:DOID:0111139|OMIM:615157|OMIM:615158|OMIM:615159|OMIM:615160|OMIM:615453|OMIM:615824|OMIM:615838|OMIM:616111 MESH:D028361 C18.452.660/C565128 C18.452.660 MC3DN2|MC3DN3|MC3DN4|MC3DN5|MC3DN6|MC3DN7|MC3DN8|MC3DN9|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 Metabolic disease MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 OMIM:124000 DO:DOID:0080111 MESH:C565128 C18.452.660/C565128/124000 C18.452.660/C565128 MC3DN1 Metabolic disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 OMIM:604273 DO:DOID:0050768 MESH:D028361 C18.452.660/604273 C18.452.660 MC5DN1|MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Metabolic disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 OMIM:614052 DO:DOID:0060331 MESH:D028361 C18.452.660/614052 C18.452.660 ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY|MC5DN2|MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE Metabolic disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 OMIM:614053 DO:DOID:0060332 MESH:D028361 C18.452.660/614053 C18.452.660 MC5DN3|MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5E TYPE Metabolic disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B OMIM:615228 DO:DOID:0070462 MESH:D028361 C18.452.660/615228 C18.452.660 MC5DN4B|MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ENCEPHALOPATHIC, ATP5A1 TYPE Metabolic disease Mitochondrial cytopathy MESH:C540770 MESH:D007625|MESH:D017240 C05.651.460.700.500/C540770|C05.651.460/C540770|C10.292.562.750.250.500/C540770|C10.597.622.447.511.500/C540770|C10.668.491.500.700.500/C540770|C10.668.491.500/C540770|C11.590.472.250.500/C540770|C11.768.585.658.500.627/C540770|C14.280.238.510/C540770|C18.452.660.560.700.500/C540770|C18.452.660.560/C540770|C23.550.291.500.688.500/C540770|C23.888.592.636.447.511.500/C540770 C05.651.460|C05.651.460.700.500|C10.292.562.750.250.500|C10.597.622.447.511.500|C10.668.491.500|C10.668.491.500.700.500|C11.590.472.250.500|C11.768.585.658.500.627|C14.280.238.510|C18.452.660.560|C18.452.660.560.700.500|C23.550.291.500.688.500|C23.888.592.636.447.511.500 Cardiovascular disease|Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Mitochondrial Diseases MESH:D028361 DO:DOID:700 Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. MESH:D008659 C18.452.660 C18.452 Deficiencies, Oxidative Phosphorylation|Deficiencies, Respiratory Chain|Deficiency, Oxidative Phosphorylation|Deficiency, Respiratory Chain|Disease, Mitochondrial|Disorder, Mitochondrial|Disorders, Mitochondrial|Electron Transport Chain Deficiencies, Mitochondrial|Mitochondrial Disease|Mitochondrial Disorder|Mitochondrial Disorders|Mitochondrial Electron Transport Chain Deficiencies|Mitochondrial Respiratory Chain Deficiencies|Oxidative Phosphorylation Deficiencies|Oxidative Phosphorylation Deficiency|Phosphorylation Deficiencies, Oxidative|Phosphorylation Deficiency, Oxidative|Respiratory Chain Deficiencies, Mitochondrial|Respiratory Chain Deficiency Metabolic disease MITOCHONDRIAL DNA DEPLETION SYNDROME 11 OMIM:615084 DO:DOID:0080129 MESH:D017240 C05.651.460/615084|C10.668.491.500/615084|C18.452.660.560/615084 C05.651.460|C10.668.491.500|C18.452.660.560 MTDPS11 Metabolic disease|Musculoskeletal disease|Nervous system disease MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT OMIM:617184 DO:DOID:0080130 MESH:D017240 C05.651.460/617184|C10.668.491.500/617184|C18.452.660.560/617184 C05.651.460|C10.668.491.500|C18.452.660.560 MTDPS12A Metabolic disease|Musculoskeletal disease|Nervous system disease MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE OMIM:615418 DO:DOID:0080335 MESH:D017240 C05.651.460/615418|C10.668.491.500/615418|C18.452.660.560/615418 C05.651.460|C10.668.491.500|C18.452.660.560 MTDPS12B Metabolic disease|Musculoskeletal disease|Nervous system disease MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) OMIM:615471 DO:DOID:0080131 MESH:D017240 C05.651.460/615471|C10.668.491.500/615471|C18.452.660.560/615471 C05.651.460|C10.668.491.500|C18.452.660.560 MTDPS13 Metabolic disease|Musculoskeletal disease|Nervous system disease MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) OMIM:616896 DO:DOID:0080336 MESH:D017240 C05.651.460/616896|C10.668.491.500/616896|C18.452.660.560/616896 C05.651.460|C10.668.491.500|C18.452.660.560 MTDPS14 Metabolic disease|Musculoskeletal disease|Nervous system disease MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) OMIM:617156 DO:DOID:0080337 MESH:D017240 C05.651.460/617156|C10.668.491.500/617156|C18.452.660.560/617156 C05.651.460|C10.668.491.500|C18.452.660.560 MTDPS15 Metabolic disease|Musculoskeletal disease|Nervous system disease MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) OMIM:603041 DO:DOID:0080119 MESH:C536350|MESH:D017237 C05.651.460.620/603041|C05.651.534.500.450/C536350/603041|C06.405.469.531.492.500/C536350/603041|C10.228.140.163.540/603041|C10.292.562.750/C536350/603041|C10.597.622.447/C536350/603041|C10.668.491.175.500.450/C536350/603041|C10.668.491.500.500/603041|C11.590.472/C536350/603041|C16.320.577.450/C536350/603041|C18.452.132.540/603041|C18.452.660.560.620/603041|C23.888.592.636.447/C536350/603041 C05.651.460.620|C05.651.534.500.450/C536350|C06.405.469.531.492.500/C536350|C10.228.140.163.540|C10.292.562.750/C536350|C10.597.622.447/C536350|C10.668.491.175.500.450/C536350|C10.668.491.500.500|C11.590.472/C536350|C16.320.577.450/C536350|C18.452.132.540|C18.452.660.560.620|C23.888.592.636.447/C536350 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED|MNGIE, TYMP-RELATED|MTDPS1|MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME|POLIP SYNDROME|POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION Digestive system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) OMIM:609560 DO:DOID:0080120 MESH:C563698 C05.651/C563698/609560|C10.668.491/C563698/609560|C18.452.660/C563698/609560 C05.651/C563698|C10.668.491/C563698|C18.452.660/C563698 MITOCHONDRIAL DNA DEPLETION MYOPATHY, TK2-RELATED|MTDPS2 Metabolic disease|Musculoskeletal disease|Nervous system disease MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) OMIM:251880 DO:DOID:0080121 MESH:D006501|MESH:D028361 C06.552.308.500.356/251880|C10.228.140.163.360/251880|C18.452.132.360/251880|C18.452.660/251880 C06.552.308.500.356|C10.228.140.163.360|C18.452.132.360|C18.452.660 MTDPS3 Digestive system disease|Metabolic disease|Nervous system disease MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) OMIM:203700 DO:DOID:0080122 MESH:D002549|MESH:D008103|MESH:D028361 C06.552.630/203700|C10.114.375.112/203700|C10.228.140.400/203700|C10.228.140.695.562.112/203700|C10.314.350.112/203700|C18.452.660/203700|C20.111.258.250.175/203700|C23.550.355.412/203700 C06.552.630|C10.114.375.112|C10.228.140.400|C10.228.140.695.562.112|C10.314.350.112|C18.452.660|C20.111.258.250.175|C23.550.355.412 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS|ALPERS-HUTTENLOCHER SYNDROME|ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY|ALPERS SYNDROME|MTDPS4A|NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE|PNDC Digestive system disease|Immune system disease|Metabolic disease|Nervous system disease|Pathology (process) MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) OMIM:613662 DO:DOID:0080123 MESH:C536350|MESH:D017237 C05.651.460.620/613662|C05.651.534.500.450/C536350/613662|C06.405.469.531.492.500/C536350/613662|C10.228.140.163.540/613662|C10.292.562.750/C536350/613662|C10.597.622.447/C536350/613662|C10.668.491.175.500.450/C536350/613662|C10.668.491.500.500/613662|C11.590.472/C536350/613662|C16.320.577.450/C536350/613662|C18.452.132.540/613662|C18.452.660.560.620/613662|C23.888.592.636.447/C536350/613662 C05.651.460.620|C05.651.534.500.450/C536350|C06.405.469.531.492.500/C536350|C10.228.140.163.540|C10.292.562.750/C536350|C10.597.622.447/C536350|C10.668.491.175.500.450/C536350|C10.668.491.500.500|C11.590.472/C536350|C16.320.577.450/C536350|C18.452.132.540|C18.452.660.560.620|C23.888.592.636.447/C536350 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, POLG-RELATED|MNGIE, POLG-RELATED|MTDPS4B Digestive system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) OMIM:612073 DO:DOID:0080124 MESH:D000592|MESH:D017237 C05.651.460.620/612073|C10.228.140.163.540/612073|C10.668.491.500.500/612073|C16.320.565.100/612073|C18.452.132.540/612073|C18.452.648.100/612073|C18.452.660.560.620/612073 C05.651.460.620|C10.228.140.163.540|C10.668.491.500.500|C16.320.565.100|C18.452.132.540|C18.452.648.100|C18.452.660.560.620 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED|MTDPS5 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) OMIM:271245 DO:DOID:0080126 MESH:C535523|MESH:C567608|MESH:D020754 C05.651.460/C567608/271245|C10.228.140.252.190.530/271245|C10.228.140.252.700.700/271245|C10.228.140.252.700/C535523/271245|C10.228.854.787.875/271245|C10.228.854.787/C535523/271245|C10.574.500.825.700/271245|C10.574.500.825/C535523/271245|C10.597.350.090.500.530/271245|C10.668.491.500/C567608/271245|C16.320.400.780.875/271245|C16.320.400.780/C535523/271245|C18.452.660.560/C567608/271245 C05.651.460/C567608|C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.140.252.700/C535523|C10.228.854.787.875|C10.228.854.787/C535523|C10.574.500.825.700|C10.574.500.825/C535523|C10.597.350.090.500.530|C10.668.491.500/C567608|C16.320.400.780.875|C16.320.400.780/C535523|C18.452.660.560/C567608 IOSCA|MTDPS7|OHAHA SYNDROME|OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS|SCA8, FORMERLY|SPINOCEREBELLAR ATAXIA 8, FORMERLY|SPINOCEREBELLAR ATAXIA, INFANTILE-ONSET|SPINOCEREBELLAR ATAXIA, INFANTILE, WITH SENSORY NEUROPATHY Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) OMIM:612075 DO:DOID:0070331|DO:DOID:0080127 MESH:C536350|MESH:D017237 C05.651.460.620/612075|C05.651.534.500.450/C536350/612075|C06.405.469.531.492.500/C536350/612075|C10.228.140.163.540/612075|C10.292.562.750/C536350/612075|C10.597.622.447/C536350/612075|C10.668.491.175.500.450/C536350/612075|C10.668.491.500.500/612075|C11.590.472/C536350/612075|C16.320.577.450/C536350/612075|C18.452.132.540/612075|C18.452.660.560.620/612075|C23.888.592.636.447/C536350/612075 C05.651.460.620|C05.651.534.500.450/C536350|C06.405.469.531.492.500/C536350|C10.228.140.163.540|C10.292.562.750/C536350|C10.597.622.447/C536350|C10.668.491.175.500.450/C536350|C10.668.491.500.500|C11.590.472/C536350|C16.320.577.450/C536350|C18.452.132.540|C18.452.660.560.620|C23.888.592.636.447/C536350 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED|MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED, INCLUDED|MNGIE, RRM2B-RELATED, INCLUDED|MTDPS8A|MTDPS8B, INCLUDED Digestive system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) OMIM:245400 DO:DOID:0080128 MESH:C567624|MESH:C580473 C05.651.460/C567624/245400|C10.668.491.500/C567624/245400|C16.320.565/C567624/245400|C18.452.648/C567624/245400|C18.452.660.560/C567624/245400|C18.452.660/C580473/245400 C05.651.460/C567624|C10.668.491.500/C567624|C16.320.565/C567624|C18.452.648/C567624|C18.452.660.560/C567624|C18.452.660/C580473 LACTIC ACIDOSIS, FATAL INFANTILE, FORMERLY|MTDPS9 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive MESH:C567624 DO:DOID:0080124 MESH:D008661|MESH:D017240 C05.651.460/C567624|C10.668.491.500/C567624|C16.320.565/C567624|C18.452.648/C567624|C18.452.660.560/C567624 C05.651.460|C10.668.491.500|C16.320.565|C18.452.648|C18.452.660.560 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive MESH:C567608 MESH:D017240 C05.651.460/C567608|C10.668.491.500/C567608|C18.452.660.560/C567608 C05.651.460|C10.668.491.500|C18.452.660.560 Metabolic disease|Musculoskeletal disease|Nervous system disease Mitochondrial DNA Depletion Syndrome, Myopathic Form MESH:C563698 DO:DOID:0080120 MESH:D009135|MESH:D028361 C05.651/C563698|C10.668.491/C563698|C18.452.660/C563698 C05.651|C10.668.491|C18.452.660 Mitochondrial DNA Depletion Myopathy, Autosomal Recessive Metabolic disease|Musculoskeletal disease|Nervous system disease Mitochondrial Encephalomyopathies MESH:D017237 DO:DOID:890 A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) MESH:D001928|MESH:D017240 C05.651.460.620|C10.228.140.163.540|C10.668.491.500.500|C18.452.132.540|C18.452.660.560.620 C05.651.460|C10.228.140.163|C10.668.491.500|C18.452.132|C18.452.660.560 Encephalomyopathies, Mitochondrial|Encephalomyopathy, Mitochondrial|Mitochondrial Encephalomyopathy Metabolic disease|Musculoskeletal disease|Nervous system disease Mitochondrial encephalopathy MESH:C538525 MESH:D017237 C05.651.460.620/C538525|C10.228.140.163.540/C538525|C10.668.491.500.500/C538525|C18.452.132.540/C538525|C18.452.660.560.620/C538525 C05.651.460.620|C10.228.140.163.540|C10.668.491.500.500|C18.452.132.540|C18.452.660.560.620 Metabolic disease|Musculoskeletal disease|Nervous system disease Mitochondrial Myopathies MESH:D017240 DO:DOID:699|OMIM:251900 A group of muscle diseases associated with abnormal mitochondria function. MESH:D009135|MESH:D028361 C05.651.460|C10.668.491.500|C18.452.660.560 C05.651|C10.668.491|C18.452.660 Disease, Luft|Disease, Luft's|Luft Disease|Luft's Disease|Lufts Disease|Megaconial Myopathies|Megaconial Myopathy|MEOAL|Mitochondrial Myopathy|MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY|Myopathies, Mitochondrial|Myopathies, Pleoconial|Myopathy, Megaconial|Myopathy, Pleoconial|Pleoconial Myopathies|Pleoconial Myopathy Metabolic disease|Musculoskeletal disease|Nervous system disease Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport MESH:C565376 MESH:D017240 C05.651.460/C565376|C10.668.491.500/C565376|C18.452.660.560/C565376 C05.651.460|C10.668.491.500|C18.452.660.560 Metabolic disease|Musculoskeletal disease|Nervous system disease Mitochondrial Myopathy with Diabetes MESH:C564026 MESH:D003920|MESH:D017240 C05.651.460/C564026|C10.668.491.500/C564026|C18.452.394.750/C564026|C18.452.660.560/C564026|C19.246/C564026 C05.651.460|C10.668.491.500|C18.452.394.750|C18.452.660.560|C19.246 Mitochondrial Myopathy, Lipid Type Endocrine system disease|Metabolic disease|Musculoskeletal disease|Nervous system disease Mitochondrial myopathy with lactic acidosis MESH:C537476 OMIM:251950 MESH:D000140|MESH:D006130|MESH:D006313|MESH:D017240 C05.651.460/C537476|C09.218.458.341.887.432/C537476|C09.218.807.186.432/C537476|C10.228.140.068.432/C537476|C10.597.751.418.341.887.432/C537476|C10.668.491.500/C537476|C18.452.076.176.180/C537476|C18.452.660.560/C537476|C23.550.393/C537476|C23.888.592.763.393.341.887.432/C537476 C05.651.460|C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C10.668.491.500|C18.452.076.176.180|C18.452.660.560|C23.550.393|C23.888.592.763.393.341.887.432 MMLA Ear-nose-throat disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Mitochondrial Phosphate Carrier Deficiency MESH:C563665 OMIM:610773 MESH:D028361 C18.452.660/C563665 C18.452.660 MPCD|NEONATAL HYPERTROPHIC CARDIOMYOPATHY, RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND LACTIC ACIDOSIS Metabolic disease MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY OMIM:614741 DO:DOID:0080363 MESH:D000140|MESH:D011596|MESH:D015323|MESH:D028361 C10.597.606.881/614741|C16.320.565.202.810/614741|C18.452.076.176.180/614741|C18.452.648.202.810/614741|C18.452.660/614741|C23.888.592.604.882/614741 C10.597.606.881|C16.320.565.202.810|C18.452.076.176.180|C18.452.648.202.810|C18.452.660|C23.888.592.604.882 MPYCD Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY OMIM:616277 MESH:D007888 C10.228.140.163.100.412/616277|C16.320.565.189.412/616277|C16.320.565.202.810.444/616277|C18.452.132.100.412/616277|C18.452.648.189.412/616277|C18.452.648.202.810.444/616277|C18.452.660.520/616277 C10.228.140.163.100.412|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 ECHS1D Genetic disease (inborn)|Metabolic disease|Nervous system disease Mitral Valve Insufficiency MESH:D008944 DO:DOID:11502 Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation. MESH:D006349 C14.280.484.461 C14.280.484 Incompetence, Mitral|Incompetence, Mitral Valve|Insufficiency, Mitral|Insufficiency, Mitral Valve|Mitral Incompetence|Mitral Insufficiency|Mitral Regurgitation|Mitral Valve Incompetence|Mitral Valve Regurgitation|Regurgitation, Mitral|Regurgitation, Mitral Valve|Valve Incompetence, Mitral|Valve Insufficiency, Mitral|Valve Regurgitation, Mitral Cardiovascular disease Mitral Valve Prolapse MESH:D008945 DO:DOID:988 Abnormal protrusion or billowing of one or both of the leaflets of MITRAL VALVE into the LEFT ATRIUM during SYSTOLE. This allows the backflow of blood into left atrium leading to MITRAL VALVE INSUFFICIENCY; SYSTOLIC MURMURS; or CARDIAC ARRHYTHMIA. MESH:D016127 C14.280.484.400.500 C14.280.484.400 Click Murmur Syndrome|Click-Murmur Syndrome|Click-Murmur Syndrome, Mitral|Click-Murmur Syndromes|Click-Murmur Syndrome, Systolic|Floppy Mitral Valve|Floppy Mitral Valves|Mitral Click Murmur Syndrome|Mitral Click-Murmur Syndrome|Mitral Valve, Floppy|Mitral Valve, Prolapsed|Mitral Valve Prolapses|Mitral Valve Prolapse Syndrome|Mitral Valves, Floppy|Mitral Valves, Prolapsed|Prolapsed Mitral Valve|Prolapsed Mitral Valves|Prolapse, Mitral Valve|Prolapses, Mitral Valve|Syndrome, Click-Murmur|Syndrome, Mitral Click-Murmur|Syndromes, Click-Murmur|Syndrome, Systolic Click-Murmur|Systolic Click Murmur Syndrome|Systolic Click-Murmur Syndrome|Valve, Prolapsed Mitral|Valve Prolapse, Mitral|Valve Prolapses, Mitral|Valves, Prolapsed Mitral Cardiovascular disease MITRAL VALVE PROLAPSE 1 OMIM:157700 DO:DOID:988 MESH:D008945 C14.280.484.400.500/157700 C14.280.484.400.500 BARLOW SYNDROME|CLICK-MURMUR SYNDROME|FLOPPY MITRAL VALVE|MITRAL REGURGITATION, FAMILIAL|MITRAL VALVE PROLAPSE, FAMILIAL;MVP PROLAPSED MITRAL VALVE|MITRAL VALVE PROLAPSE, MYXOMATOUS 1|MMVP1|MVP1|MYXOMATOUS MITRAL VALVE PROLAPSE 1|MYXOMATOUS VALVULAR DISEASE, FAMILIAL|PMV Cardiovascular disease Mitral Valve Prolapse, Myxomatous 1 MESH:C563573 MESH:D008945 C14.280.484.400.500/C563573 C14.280.484.400.500 Myxomatous Mitral Valve Prolapse 1 Cardiovascular disease Mitral Valve Prolapse, Myxomatous 2 MESH:C564326 OMIM:607829 MESH:D008945 C14.280.484.400.500/C564326 C14.280.484.400.500 MITRAL VALVE PROLAPSE 2|MITRAL VALVE PROLAPSE, MYXOMATOUS 2|MMVP2|MVP2|Myxomatous Mitral Valve Prolapse 2 Cardiovascular disease Mitral Valve Prolapse, Myxomatous 3 MESH:C563655 OMIM:610840 MESH:D008945 C14.280.484.400.500/C563655 C14.280.484.400.500 MITRAL VALVE PROLAPSE 3|MITRAL VALVE PROLAPSE, MYXOMATOUS 3|MMVP3|MVP3|Myxomatous Mitral Valve Prolapse 3 Cardiovascular disease Mitral Valve Stenosis MESH:D008946 DO:DOID:1754 Narrowing of the passage through the MITRAL VALVE due to FIBROSIS, and CALCINOSIS in the leaflets and chordal areas. This elevates the left atrial pressure which, in turn, raises pulmonary venous and capillary pressure leading to bouts of DYSPNEA and TACHYCARDIA during physical exertion. RHEUMATIC FEVER is its primary cause. MESH:D006349 C14.280.484.517 C14.280.484 Mitral Stenoses|Mitral Stenosis|Mitral Valve Stenoses|Stenoses, Mitral|Stenoses, Mitral Valve|Stenosis, Mitral|Stenosis, Mitral Valve|Valve Stenoses, Mitral|Valve Stenosis, Mitral Cardiovascular disease Mixed Connective Tissue Disease MESH:D008947 DO:DOID:3492 A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is differentially characterized by high serum titers of antibodies to ribonuclease-sensitive extractable (saline soluble) nuclear antigen and a 'speckled' epidermal nuclear staining pattern on direct immunofluorescence. MESH:D003240 C17.300.540 C17.300 Connective Tissue Disease, Mixed|MCTD|Sharp Syndrome|Syndrome, Sharp Connective tissue disease Mixed Dementias MESH:D000093902 Dementias caused by multiple etiologies, e.g., ALZHEIMER DISEASE, and VASCULAR DEMENTIA and/or LEWY BODY DISEASE. MESH:D003704 C10.228.140.380.711|F03.615.400.756 C10.228.140.380|F03.615.400 Dementia, Mixed|Dementia, Mixed-Etiology|Dementia, Multiple-Etiology|Mixed Dementia|Mixed-Etiology Dementia|Mixed Etiology Dementias|Mixed-Etiology Dementias|Multiple-Etiology Dementia|Multiple Etiology Dementias|Multiple-Etiology Dementias Mental disorder|Nervous system disease Mixed sclerosing bone dystrophy MESH:C537479 MESH:D010026 C05.116.099.708.702/C537479 C05.116.099.708.702 Musculoskeletal disease Mixed Tumor, Malignant MESH:D018198 DO:DOID:154 A malignant tumor composed of more than one type of neoplastic tissue. (Dorland, 27th ed) MESH:D018193 C04.557.435.525 C04.557.435 Malignant Mixed Tumor|Malignant Mixed Tumors|Mixed Tumors, Malignant|Tumor, Malignant Mixed|Tumors, Malignant Mixed Cancer Mixed Tumor, Mesodermal MESH:D018199 DO:DOID:4236 A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702) MESH:D012509|MESH:D018193 C04.557.435.530|C04.557.450.795.530 C04.557.435|C04.557.450.795 Mesodermal Mixed Tumor|Mesodermal Mixed Tumors|Mixed Tumors, Mesodermal|Tumor, Mesodermal Mixed|Tumors, Mesodermal Mixed Cancer Mixed Tumor, Mullerian MESH:D018200 DO:DOID:4236 A tumor, basically a carcinoma with a single sarcoma such as leiomyosarcoma or angiosarcoma or multiple sarcomas of uterine origin. The role of estrogen has been postulated as a possible etiological factor in this tumor. (Holland et al., Cancer Medicine, 3d ed, p1703) MESH:D018193 C04.557.435.540 C04.557.435 Mullerian Mixed Tumor|Tumor, Mullerian Mixed Cancer Miyoshi Muscular Dystrophy 2 MESH:C567646 DO:DOID:0070200|OMIM:613318 MESH:D009133|MESH:D049310 C05.651.534.500.074/C567646|C10.597.613.612/C567646|C10.668.491.175.500.074/C567646|C16.320.577.074/C567646|C23.300.070.500/C567646|C23.888.592.608.612/C567646 C05.651.534.500.074|C10.597.613.612|C10.668.491.175.500.074|C16.320.577.074|C23.300.070.500|C23.888.592.608.612 Miyoshi Myopathy 2|MMD2 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Miyoshi Muscular Dystrophy 3 MESH:C567645 DO:DOID:0070201|OMIM:613319 MESH:D009133|MESH:D049310 C05.651.534.500.074/C567645|C10.597.613.612/C567645|C10.668.491.175.500.074/C567645|C16.320.577.074/C567645|C23.300.070.500/C567645|C23.888.592.608.612/C567645 C05.651.534.500.074|C10.597.613.612|C10.668.491.175.500.074|C16.320.577.074|C23.300.070.500|C23.888.592.608.612 Miyoshi Myopathy 3|MMD3 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Miyoshi myopathy MESH:C537480 DO:DOID:0070198|OMIM:254130 MESH:D009133|MESH:D049310 C05.651.534.500.074/C537480|C10.597.613.612/C537480|C10.668.491.175.500.074/C537480|C16.320.577.074/C537480|C23.300.070.500/C537480|C23.888.592.608.612/C537480 C05.651.534.500.074|C10.597.613.612|C10.668.491.175.500.074|C16.320.577.074|C23.300.070.500|C23.888.592.608.612 Miyoshi distal myopathy|Miyoshi Muscular Dystrophy 1|MIYOSHI MYOPATHY|Miyoshi myopathy 1|MMD1|mmd1 myopathy|Muscular dystrophy, distal, late onset, autosomal recessive|Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Mobility Limitation MESH:D051346 Difficulty in walking from place to place. MESH:D012816 C23.888.550 C23.888 Ambulation Difficulties|Ambulation Difficulty|Ambulatory Difficulties|Ambulatory Difficulty|Difficulties, Ambulation|Difficulties, Ambulatory|Difficulty Ambulation|Difficulty, Ambulation|Difficulty Walking|Limitation, Mobility|Mobility Limitations|Walking, Difficulty Signs and symptoms Mobius Syndrome MESH:D020331 DO:DOID:13501 A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020) MESH:D000015|MESH:D000093922|MESH:D005155|MESH:D007232 C07.465.299.825|C10.292.319.825|C10.292.562.700.375.750|C11.590.436.400.750|C16.131.077.578|C16.614.595 C07.465.299|C10.292.319|C10.292.562.700.375|C11.590.436.400|C16.131.077|C16.614 Congenital Oculofacial Paralysis, Moebius|Congenital Ophthalmoplegia and Facial Paresis|Möbius Sequence|Mobius Syndromes|Moebius Congenital Oculofacial Paralysis|Moebius Sequence|Moebius Spectrum|Moebius Syndrome|Moebius Syndromes Congenital abnormality|Eye disease|Infant-newborn disease|Mouth disease|Nervous system disease Modifier, X-Linked, for Neurofunctional Defects MESH:C564098 MESH:D005879|MESH:D040181 C10.228.140.079.898/C564098|C10.228.662.825.800/C564098|C10.574.500.850/C564098|C16.320.322/C564098|C16.320.400.820/C564098|F03.625.992.850/C564098 C10.228.140.079.898|C10.228.662.825.800|C10.574.500.850|C16.320.322|C16.320.400.820|F03.625.992.850 Tourette Syndrome, Modifier of Genetic disease (inborn)|Mental disorder|Nervous system disease MODY, Type 6 MESH:C565231 OMIM:606394 MESH:D003924 C18.452.394.750.149/C565231|C19.246.300/C565231 C18.452.394.750.149|C19.246.300 Maturity-Onset Diabetes of the Young, Type 6|MODY6|MODY, TYPE 6 Endocrine system disease|Metabolic disease Moebius axonal neuropathy hypogonadism MESH:C535806 MESH:D007006|MESH:D020331 C07.465.299.825/C535806|C10.292.319.825/C535806|C10.292.562.700.375.750/C535806|C11.590.436.400.750/C535806|C16.131.077.578/C535806|C16.614.595/C535806|C19.391.482/C535806 C07.465.299.825|C10.292.319.825|C10.292.562.700.375.750|C11.590.436.400.750|C16.131.077.578|C16.614.595|C19.391.482 Congenital abnormality|Endocrine system disease|Eye disease|Infant-newborn disease|Mouth disease|Nervous system disease Moebius syndrome 1 MESH:C535807 OMIM:157900 MESH:D020331 C07.465.299.825/C535807|C10.292.319.825/C535807|C10.292.562.700.375.750/C535807|C11.590.436.400.750/C535807|C16.131.077.578/C535807|C16.614.595/C535807 C07.465.299.825|C10.292.319.825|C10.292.562.700.375.750|C11.590.436.400.750|C16.131.077.578|C16.614.595 MBS|MOBIUS SYNDROME|MOEBIUS SEQUENCE|MOEBIUS SYNDROME Congenital abnormality|Eye disease|Infant-newborn disease|Mouth disease|Nervous system disease Mohr-Tranebjaerg syndrome MESH:C535808 DO:DOID:0050757|OMIM:304700 MESH:D004421|MESH:D008607|MESH:D009896|MESH:D054062 C09.218.458.341.186.500/C535808|C10.292.700.225/C535808|C10.597.350.300/C535808|C10.597.606.360/C535808|C10.597.751.418.341.186.500/C535808|C10.597.751.941.162.625/C535808|C11.640.451/C535808|C11.966.075.375/C535808|C16.131.077.299/C535808|C23.888.592.350.300/C535808|C23.888.592.604.646/C535808|C23.888.592.763.393.341.186.500/C535808|C23.888.592.763.941.162.625/C535808|F03.625.539/C535808 C09.218.458.341.186.500|C10.292.700.225|C10.597.350.300|C10.597.606.360|C10.597.751.418.341.186.500|C10.597.751.941.162.625|C11.640.451|C11.966.075.375|C16.131.077.299|C23.888.592.350.300|C23.888.592.604.646|C23.888.592.763.393.341.186.500|C23.888.592.763.941.162.625|F03.625.539 DDP|DDSX|Deafness (DFN-1) dystonia, mental deficiency and blindness|Deafness-dystonia-optic atrophy syndrome|Deafness-Dystonia-Optic Neuronopathy Syndrome|Deafness dystonia syndrome|Deafness-Dystonia Syndrome|Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency|Dystonia-Deafness Syndrome|DYSTONIA-DEAFNESS SYNDROME, X-LINKED|JENSEN SYNDROME|Mohr-Tranebjærg Syndrome|MTS|OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA Congenital abnormality|Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Molar Hypomineralization MESH:D000094604 A type of developmental disturbance of AMELOGENESIS involving MOLARS of any type (obligatory) plus other teeth sometimes. It is characterized by demarcated enamel opacities with unknown systemic causation (idiopathic). MESH:D000094603 C07.650.800.295.500.750|C07.793.700.295.500.750|C16.131.850.800.295.500.750 C07.650.800.295.500|C07.793.700.295.500|C16.131.850.800.295.500 Hypomineralization, Incisor|Hypomineralization, Molar|Hypomineralization, Molar Incisor|Hypomineralizations, Molar|Incisor Hypomineralization|Incisor Hypomineralizations|Molar Hypomineralizations|Molar Incisor Hypomineralization Congenital abnormality|Mouth disease Mollica Pavone Antener syndrome MESH:C535809 MESH:D004392|MESH:D005128|MESH:D006130|MESH:D008607 C05.116.099.343/C535809|C10.597.606.360/C535809|C11/C535809|C16.320.240/C535809|C19.297/C535809|C23.550.393/C535809|C23.888.592.604.646/C535809|F03.625.539/C535809 C05.116.099.343|C10.597.606.360|C11|C16.320.240|C19.297|C23.550.393|C23.888.592.604.646|F03.625.539 Dwarfism, mental retardation, and eye abnormality|Mollica syndrome|Short stature, mental retardation and ocular alterations Endocrine system disease|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Molluscum Contagiosum MESH:D008976 DO:DOID:8867 A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (MOLLUSCUM CONTAGIOSUM VIRUS). (Dorland, 27th ed) MESH:D011213|MESH:D017193 C01.925.256.743.611|C01.925.825.550|C17.800.838.790.550 C01.925.256.743|C01.925.825|C17.800.838.790 Skin disease|Viral disease Moloney syndrome MESH:C535810 MESH:D000505|MESH:D015799 C11.270.468/C535810|C11.941.160.578/C535810|C16.320.290.468/C535810|C17.800.329.937.122/C535810|C23.300.035/C535810 C11.270.468|C11.941.160.578|C16.320.290.468|C17.800.329.937.122|C23.300.035 Choroidal atrophy alopecia|Regional choroidal atrophy and alopecia Eye disease|Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease Molybdenum cofactor deficiency MESH:C535811 DO:DOID:0111165|OMIM:252150 MESH:D008664 C16.320.565.618/C535811|C18.452.648.618/C535811 C16.320.565.618|C18.452.648.618 MOCODA|MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A|SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF Genetic disease (inborn)|Metabolic disease Molybdenum Cofactor Deficiency, Complementation Group A MESH:C565372 DO:DOID:0111164 MESH:D008664 C16.320.565.618/C565372|C18.452.648.618/C565372 C16.320.565.618|C18.452.648.618 Molybdenum Cofactor Deficiency Type A Genetic disease (inborn)|Metabolic disease Molybdenum Cofactor Deficiency, Complementation Group B MESH:C565373 DO:DOID:0111163|OMIM:252160 MESH:D008664 C16.320.565.618/C565373|C18.452.648.618/C565373 C16.320.565.618|C18.452.648.618 MOCODB|Molybdenum Cofactor Deficiency Type B Genetic disease (inborn)|Metabolic disease Molybdenum Cofactor Deficiency, Complementation Group C MESH:C565374 DO:DOID:0111166|OMIM:615501 MESH:D008664 C16.320.565.618/C565374|C18.452.648.618/C565374 C16.320.565.618|C18.452.648.618 MOCODC|Molybdenum Cofactor Deficiency Type C Genetic disease (inborn)|Metabolic disease MOMES Syndrome MESH:C564660 MESH:D003876|MESH:D005124|MESH:D008607|MESH:D009765|MESH:D011378 C05.500.460.655/C564660|C05.500.607.655/C564660|C05.660.207.540.460.655/C564660|C07.320.440.655/C564660|C07.320.610.655/C564660|C07.650.500.460.655/C564660|C10.597.606.360/C564660|C11.250/C564660|C16.131.384/C564660|C16.131.621.207.540.460.655/C564660|C16.131.850.500.460.655/C564660|C16.320.850.210/C564660|C17.800.174.193/C564660|C17.800.815.193/C564660|C17.800.827.210/C564660|C18.654.726.750.500/C564660|C20.543.480.343/C564660|C23.888.144.699.500/C564660|C23.888.592.604.646/C564660|F03.625.539/C564660 C05.500.460.655|C05.500.607.655|C05.660.207.540.460.655|C07.320.440.655|C07.320.610.655|C07.650.500.460.655|C10.597.606.360|C11.250|C16.131.384|C16.131.621.207.540.460.655|C16.131.850.500.460.655|C16.320.850.210|C17.800.174.193|C17.800.815.193|C17.800.827.210|C18.654.726.750.500|C20.543.480.343|C23.888.144.699.500|C23.888.592.604.646|F03.625.539 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies Congenital abnormality|Eye disease|Genetic disease (inborn)|Immune system disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Nutrition disorder|Signs and symptoms|Skin disease Monckeberg Medial Calcific Sclerosis MESH:D050380 Thickening and loss of elasticity of the walls of muscular ARTERIES due to calcification of the TUNICA MEDIA, the concentric layers of helically arranged SMOOTH MUSCLE CELLS. MESH:D061205 C18.452.174.130.780.500 C18.452.174.130.780 Calcific Scleroses, Medial|Calcific Sclerosis, Medial|Medial Calcific Scleroses|Medial Calcific Sclerosis|Mönckeberg Medial Calcific Sclerosis|Monckeberg Sclerosis|Mönckeberg Sclerosis|Monckeberg's Medial Calcific Sclerosis|Mönckeberg's Medial Calcific Sclerosis|Monckeberg's Sclerosis|Monckebergs Sclerosis|Mönckeberg's Sclerosis|Mönckebergs Sclerosis|Scleroses, Medial Calcific|Sclerosis, Medial Calcific|Sclerosis, Monckeberg Medial Calcific|Sclerosis, Mönckeberg Medial Calcific|Sclerosis, Monckeberg's|Sclerosis, Mönckeberg's Metabolic disease Monday morning fever MESH:C531641 MESH:D002095 C08.381.483.581.275/C531641|C08.381.520.702.275/C531641|C24.800.323/C531641 C08.381.483.581.275|C08.381.520.702.275|C24.800.323 Occupational disease|Respiratory tract disease Mongolian Spot MESH:D049328 DO:DOID:4702 A bluish-gray to gray-brown benign, melanocytic nevus found usually in the LUMBOSACRAL REGION of dark-skinned people, especially those of East Asian ancestry. It is usually congenital or appears shortly after birth, and disappears in childhood. MESH:D009508 C04.557.665.560.615.530 C04.557.665.560.615 Blue Spot, Mongolian|Mongolian Blue Spot|Spot, Mongolian Cancer Monieziasis MESH:D008989 DO:DOID:931 Infection of ruminants with tapeworms of the genus Moniezia. MESH:D002590|MESH:D006374 C01.610.335.190.628|C01.610.335.349.656|C01.610.701.377.656|C22.674.377.656 C01.610.335.190|C01.610.335.349|C01.610.701.377|C22.674.377 Monieziases Animal disease|Parasitic disease Monilethrix MESH:D056734 DO:DOID:0050472|OMIM:158000 Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix. MESH:D000015|MESH:D006201|MESH:D012873 C16.131.077.592|C16.320.850.647|C17.800.329.984|C17.800.827.602 C16.131.077|C16.320.850|C17.800.329|C17.800.827 Hair, Nodose|Hairs, Nodose|MNLIX|Monilethrices|Nodose Hair|Nodose Hairs Congenital abnormality|Genetic disease (inborn)|Skin disease Monkey Diseases MESH:D008992 Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= APE DISEASES). MESH:D018419 C22.735.500 C22.735 Disease, Monkey|Diseases, Monkey|Monkey Disease Animal disease Monkeypox MESH:D045908 DO:DOID:3292 A viral disease infecting PRIMATES and RODENTS. Its clinical presentation in humans is similar to SMALLPOX including FEVER; HEADACHE; COUGH; and a painful RASH. It is caused by MONKEYPOX VIRUS and is usually transmitted to humans through BITES or via contact with an animal's BLOOD. Interhuman transmission is relatively low (significantly less than smallpox). MESH:D011213|MESH:D012376|MESH:D018419 C01.925.256.743.615|C22.735.750|C22.795.600 C01.925.256.743|C22.735|C22.795 Monkey Pox Animal disease|Viral disease MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY OMIM:616095 MESH:D007662|MESH:D008661 C16.320.565/616095|C18.452.076.176.652/616095|C18.452.648/616095 C16.320.565|C18.452.076.176.652|C18.452.648 MCT1D Genetic disease (inborn)|Metabolic disease Monoclonal Gammopathy of Undetermined Significance MESH:D008998 Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia. MESH:D006942|MESH:D010265 C15.378.147.542.640|C15.378.147.780.570|C20.683.460.640|C20.683.780.640 C15.378.147.542|C15.378.147.780|C20.683.460|C20.683.780 Benign Monoclonal Gammapathies|Benign Monoclonal Gammapathy|Benign Monoclonal Gammopathies|Benign Monoclonal Gammopathy|Monoclonal Gammapathies, Benign|Monoclonal Gammapathy, Benign|Monoclonal Gammapathy of Undetermined Significance|Monoclonal Gammopathies, Benign|Monoclonal Gammopathy, Benign Blood disease|Immune system disease monocular elevation deficiency MESH:C000721287 MESH:D000093922 C10.292.562.700.375/C000721287|C10.500.198/C000721287|C11.590.436.400/C000721287|C16.131.666.198/C000721287 C10.292.562.700.375|C10.500.198|C11.590.436.400|C16.131.666.198 double elevator palsy Congenital abnormality|Eye disease|Nervous system disease Monocyte Chemotactic Disorder MESH:C565371 MESH:D007154 C20/C565371 C20 Immune system disease Monocyte Esterase Deficiency MESH:C566173 MESH:D007960 C15.378.553/C566173 C15.378.553 Monocyte Carboxylesterase Deficiency Blood disease Mononegavirales Infections MESH:D018701 Infections with viruses of the order MONONEGAVIRALES. The concept includes FILOVIRIDAE INFECTIONS; PARAMYXOVIRIDAE INFECTIONS; and RHABDOVIRIDAE INFECTIONS. MESH:D012327 C01.925.782.580 C01.925.782 Infection, Mononegavirales|Infections, Mononegavirales|Mononegavirales Infection Viral disease Mononen Karnes Senac syndrome MESH:C535914 DO:DOID:0110973 MESH:D001848|MESH:D005532|MESH:D006228 C05.116.099/C535914|C05.330.495/C535914|C05.390.408/C535914|C05.660.585.512.380/C535914|C05.660.585.988.425/C535914|C16.131.621.585.512.500/C535914|C16.131.621.585.988.500/C535914 C05.116.099|C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500 Congenital abnormality|Musculoskeletal disease Mononeuropathies MESH:D020422 DO:DOID:1188|DO:DOID:1802|DO:DOID:1835 Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ISCHEMIA; traumatic injury; compression; CONNECTIVE TISSUE DISEASES; CUMULATIVE TRAUMA DISORDERS; and other conditions. MESH:D010523 C10.668.829.500 C10.668.829 Mononeuritides|Mononeuritis|Mononeuritis Multiplex|Mononeuropathy|Mononeuropathy Multiplex|Mononeuropathy Multiplex Syndrome|Mononeuropathy Multiplex Syndromes|Syndrome, Mononeuropathy Multiplex|Syndromes, Mononeuropathy Multiplex Nervous system disease MONONEUROPATHY OF THE MEDIAN NERVE, MILD OMIM:613353 MESH:D020422 C10.668.829.500/613353 C10.668.829.500 CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO|MNMN Nervous system disease Monophalangy of Great Toe MESH:C563570 MESH:D005532 C05.330.495/C563570|C05.660.585.512.380/C563570|C16.131.621.585.512.500/C563570 C05.330.495|C05.660.585.512.380|C16.131.621.585.512.500 Congenital abnormality|Musculoskeletal disease Monosomy MESH:D009006 The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. MESH:D000782 C23.550.210.050.500 C23.550.210.050 Monosomies Pathology (process) Monosomy 5p MESH:C538482 MESH:D003410 C10.597.606.360.180/C538482|C16.131.077.262/C538482|C16.131.260.190/C538482|C16.320.180.190/C538482 C10.597.606.360.180|C16.131.077.262|C16.131.260.190|C16.320.180.190 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Monosomy 7 of Bone Marrow MESH:C565370 MESH:D002872|MESH:D009190|MESH:D015470|MESH:D025063 C04.557.337.539.275/C565370|C15.378.190.625/C565370|C16.131.260/C565370|C16.320.180/C565370|C23.550.210.050.500.500/C565370 C04.557.337.539.275|C15.378.190.625|C16.131.260|C16.320.180|C23.550.210.050.500.500 Myelodysplasia and Leukemia Syndrome with Monosomy 7 Blood disease|Cancer|Congenital abnormality|Genetic disease (inborn)|Pathology (process) Monteggia's Fracture MESH:D009011 Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius. MESH:D000072039|MESH:D000092464|MESH:D014458 C05.550.518.336.750|C26.088.134.688|C26.289.336.750|C26.404.937.547 C05.550.518.336|C26.088.134|C26.289.336|C26.404.937 Fracture, Monteggia's|Monteggia Fracture|Monteggia Fracture Dislocations|Monteggias Fracture Musculoskeletal disease|Wounds and injuries Mood Disorders MESH:D019964 DO:DOID:3324 Those disorders that have a disturbance in mood as their predominant feature. MESH:D001523 F03.600 F03 Affective Disorder|Affective Disorders|Disorder, Affective|Disorder, Mood|Disorders, Affective|Disorders, Mood|Mood Disorder Mental disorder Moraxellaceae Infections MESH:D045828 Infections with bacteria of the family MORAXELLACEAE. MESH:D016905 C01.150.252.400.560 C01.150.252.400 Infection, Moraxella|Infection, Moraxellaceae|Infection, Psychobacter|Infections, Moraxella|Infections, Moraxellaceae|Infections, Psychobacter|Moraxellaceae Infection|Moraxella Infection|Moraxella Infections|Psychobacter Infection|Psychobacter Infections Bacterial infection or mycosis MORBID OBESITY AND SPERMATOGENIC FAILURE OMIM:615703 MESH:D007248|MESH:D009767 C12.100.500.430/615703|C12.100.750.700/615703|C12.200.294.430/615703|C18.654.726.750.500.700/615703|C23.888.144.699.500.500/615703 C12.100.500.430|C12.100.750.700|C12.200.294.430|C18.654.726.750.500.700|C23.888.144.699.500.500 MOSPGF Nutrition disorder|Signs and symptoms|Urogenital disease (male) Morbillivirus Infections MESH:D018185 Infections with viruses of the genus MORBILLIVIRUS, family PARAMYXOVIRIDAE. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions. MESH:D018184 C01.925.782.580.600.500 C01.925.782.580.600 Infection, Morbillivirus|Infections, Morbillivirus|Morbillivirus Infection Viral disease Morgellons Disease MESH:D055535 An unexplained illness which is characterized by skin manifestations including non-healing lesions, itching, and the appearance of fibers. MESH:D012871|MESH:D019967 C17.800.518|F03.700.412 C17.800|F03.700 Disease, Morgellons|Morgellon|Morgellon's|Morgellons|Morgellons Syndrome|Syndrome, Morgellons Mental disorder|Skin disease Morillo-Cucci Passarge syndrome MESH:C536983 MESH:D000015|MESH:D006130|MESH:D006228|MESH:D007592|MESH:D008607|MESH:D019465 C05.390.408/C536983|C05.550/C536983|C05.660.207/C536983|C05.660.585.988.425/C536983|C10.597.606.360/C536983|C16.131.077/C536983|C16.131.621.207/C536983|C16.131.621.585.988.500/C536983|C23.550.393/C536983|C23.888.592.604.646/C536983|F03.625.539/C536983 C05.390.408|C05.550|C05.660.207|C05.660.585.988.425|C10.597.606.360|C16.131.077|C16.131.621.207|C16.131.621.585.988.500|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms MORM syndrome MESH:C536984 OMIM:610156 MESH:D000015|MESH:D005128|MESH:D008607|MESH:D009765|MESH:D010409 C10.597.606.360/C536984|C11/C536984|C12.100.500.494/C536984|C12.200.294.494/C536984|C16.131.077/C536984|C18.654.726.750.500/C536984|C23.888.144.699.500/C536984|C23.888.592.604.646/C536984|F03.625.539/C536984 C10.597.606.360|C11|C12.100.500.494|C12.200.294.494|C16.131.077|C18.654.726.750.500|C23.888.144.699.500|C23.888.592.604.646|F03.625.539 IMPAIRED INTELLECTUAL DEVELOPMENT, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME|Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis|Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis|MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME|MORMS|MORM SYNDROME Congenital abnormality|Eye disease|Mental disorder|Nervous system disease|Nutrition disorder|Signs and symptoms|Urogenital disease (male) Morning Sickness MESH:D048968 Symptoms of NAUSEA and VOMITING in pregnant women that usually occur in the morning during the first 2 to 3 months of PREGNANCY. Severe persistent vomiting during pregnancy is called HYPEREMESIS GRAVIDARUM. MESH:D011248|MESH:D014839 C12.050.703.407|C23.888.821.937.049 C12.050.703|C23.888.821.937 Sickness, Morning Pregnancy complication|Signs and symptoms Morphine Dependence MESH:D009021 DO:DOID:2560 Strong dependence, both physiological and emotional, upon morphine. MESH:D009293 C25.775.643.500.600|F03.900.647.500.600 C25.775.643.500|F03.900.647.500 Abuse, Morphine|Addiction, Morphine|Dependence, Morphine|Morphine Abuse|Morphine Addiction Mental disorder|Substance-related disorder Morphological and Microscopic Findings MESH:D065308 Morphological findings useful in differentiation and classification of results in CYTODIAGNOSIS and related techniques. MESH:D013568 C23.149 C23 Morton Neuroma MESH:D000070607 A nerve inflammation in the foot caused by chronic compression of the plantar nerve between the METATARSAL BONES. MESH:D009437|MESH:D037061 C05.360.500.500|C05.550.610.500|C10.668.829.600.375|C23.888.592.612.540.500|C23.888.592.612.664.275 C05.360.500|C05.550.610|C10.668.829.600|C23.888.592.612.540|C23.888.592.612.664 Disease, Morton's|Intermetatarsal Neuroma|Intermetatarsal Neuromas|Metatarsalgia, Morton's|Morton Disease|Morton Metatarsalgia|Morton Neuralgia|Morton's Disease|Mortons Disease|Morton's Metatarsalgia|Mortons Metatarsalgia|Morton's Neuralgia|Mortons Neuralgia|Morton's Neuroma|Mortons Neuroma|Neuralgia, Morton's|Neuroma, Intermetatarsal|Neuroma, Morton|Neuroma, Morton's|Neuromas, Intermetatarsal Musculoskeletal disease|Nervous system disease|Signs and symptoms Mosaic variegated aneuploidy syndrome MESH:C536987 DO:DOID:0080688|OMIM:257300|OMIM:614114 MESH:D025063 C16.131.260/C536987|C16.320.180/C536987 C16.131.260|C16.320.180 Chromosomal mosaicism due to mitotic instability|Instability mitotic non disjunction syndrome|Mosaic variegated aneuploidy syndrome 1|MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2|MVA1|MVA2|MVA Syndrome Congenital abnormality|Genetic disease (inborn) Motion Sickness MESH:D009041 DO:DOID:2951 Disorder caused by motion. It includes sea sickness, train sickness, roller coaster rides, rocking chair, hammock swing, car sickness, air sickness, or SPACE MOTION SICKNESS. Symptoms include nausea, vomiting and/or dizziness. MESH:D012816 C23.888.571 C23.888 Airsickness|Air Sickness|Carsickness|Car Sickness|Seasickness|Sea Sickness|Sickness, Air|Sickness, Car|Sickness, Motion|Sickness, Sea Signs and symptoms Motor Disorders MESH:D000068079 Motor skills deficits that significantly and persistently interfere with ACTIVITIES OF DAILY LIVING appropriate to chronological age. (from DSM-5) MESH:D001523 F03.608 F03 Mental disorder Motor Neuron Disease MESH:D016472 DO:DOID:230|DO:DOID:231|DO:DOID:4873 Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089) MESH:D009468|MESH:D019636 C10.574.562|C10.668.467 C10.574|C10.668 Anterior Horn Cell Disease|Familial Motor Neuron Disease|Lateral Scleroses|Lateral Scleroses, Primary|Lateral Sclerosis|Lateral Sclerosis, Primary|Lower Motor Neuron Disease|Motor Neuron Disease, Familial|Motor Neuron Disease, Lower|Motor Neuron Diseases|Motor Neuron Disease, Secondary|Motor Neuron Disease, Upper|Motor System Disease|Motor System Diseases|Neuron Disease, Motor|Neuron Diseases, Motor|Primary Lateral Scleroses|Primary Lateral Sclerosis|Scleroses, Lateral|Scleroses, Primary Lateral|Sclerosis, Lateral|Sclerosis, Primary Lateral|Secondary Motor Neuron Disease|Upper Motor Neuron Disease Nervous system disease Motor Neuron Disease with Dementia and Ophthalmoplegia MESH:C563954 MESH:D003704|MESH:D009886|MESH:D016472 C10.228.140.380/C563954|C10.292.562.750/C563954|C10.574.562/C563954|C10.597.622.447/C563954|C10.668.467/C563954|C11.590.472/C563954|C23.888.592.636.447/C563954|F03.615.400/C563954 C10.228.140.380|C10.292.562.750|C10.574.562|C10.597.622.447|C10.668.467|C11.590.472|C23.888.592.636.447|F03.615.400 Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Motor neuropathy peripheral with dysautonomia MESH:C536988 MESH:D001342 C10.177/C536988 C10.177 Lisker Garcia Ramos syndrome|Motor Neuropathy, Peripheral, with Dysautonomia|Peripheral motor neuropathy associated with autonomic dysfunction Nervous system disease Motor Skills Disorders MESH:D019957 DO:DOID:9923 Marked impairments in the development of motor coordination such that the impairment interferes with activities of daily living. (From DSM-V) MESH:D065886 F03.625.813 F03.625 Coordination Disorder, Developmental|Developmental Coordination Disorder|Developmental Coordination Disorders|Motor Skills Disorder Mental disorder Mousa Al din Al Nassar syndrome MESH:C536989 MESH:D000015|MESH:D002386|MESH:D003317|MESH:D009216|MESH:D013132 C10.228.140.252.700/C536989|C10.228.854.787/C536989|C10.574.500.825/C536989|C11.204.236/C536989|C11.270.162/C536989|C11.510.245/C536989|C11.744.636/C536989|C16.131.077/C536989|C16.320.290.162/C536989|C16.320.400.780/C536989 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C11.204.236|C11.270.162|C11.510.245|C11.744.636|C16.131.077|C16.320.290.162|C16.320.400.780 Bedouin spastic ataxia syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Mouth Abnormalities MESH:D009056 Congenital absence of or defects in structures of the mouth. MESH:D009059|MESH:D018640 C07.465.525|C07.650.525|C16.131.850.525 C07.465|C07.650|C16.131.850 Abnormalities, Mouth|Abnormality, Mouth|Mouth Abnormality Congenital abnormality|Mouth disease Mouth Breathing MESH:D009058 Abnormal breathing through the mouth, usually associated with obstructive disorders of the nasal passages. MESH:D012120|MESH:D012818 C08.618.659|C23.888.852.761 C08.618|C23.888.852 Breathing, Mouth|Breathings, Mouth|Mouth Breathings Respiratory tract disease|Signs and symptoms Mouth Diseases MESH:D009059 DO:DOID:403 Diseases involving the MOUTH. MESH:D009057 C07.465 C07 Disease, Mouth|Diseases, Mouth|Mouth Disease Mouth disease Mouth, Edentulous MESH:D009066 Total lack of teeth through disease or extraction. MESH:D009059|MESH:D014076 C07.465.550|C07.793.597 C07.465|C07.793 Edentulous Mouth|Edentulous Mouths|Mouth, Toothless|Toothless Mouth Mouth disease Mouth Neoplasms MESH:D009062 Tumors or cancer of the MOUTH. MESH:D006258|MESH:D009059 C04.588.443.591|C07.465.530 C04.588.443|C07.465 Cancer, Mouth|Cancer of Mouth|Cancer of the Mouth|Cancer, Oral|Cancers, Mouth|Cancers, Oral|Mouth Cancer|Mouth Cancers|Mouth Neoplasm|Neoplasm, Mouth|Neoplasm, Oral|Neoplasms, Mouth|Neoplasms, Oral|Oral Cancer|Oral Cancers|Oral Neoplasm|Oral Neoplasms Cancer|Mouth disease Movement Disorders MESH:D009069 DO:DOID:480 Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. MESH:D002493 C10.228.662 C10.228 Dyskinesia Syndrome|Dyskinesia Syndromes|Etat Marbre|Movement Disorder|Movement Disorder Syndrome|Movement Disorder Syndromes|Status Marmoratus Nervous system disease Mowat-Wilson syndrome MESH:C536990 DO:DOID:0060485|OMIM:235730 MESH:D006627|MESH:D008607|MESH:D008831|MESH:D019066 C05.660.207.620/C536990|C06.198.439/C536990|C06.405.469.158.701.439/C536990|C10.500.507.400.500/C536990|C10.597.606.360/C536990|C16.131.314.439/C536990|C16.131.621.207.620/C536990|C16.131.666.507.400.500/C536990|C23.550.291.812/C536990|C23.888.592.604.646/C536990|F03.625.539/C536990 C05.660.207.620|C06.198.439|C06.405.469.158.701.439|C10.500.507.400.500|C10.597.606.360|C16.131.314.439|C16.131.621.207.620|C16.131.666.507.400.500|C23.550.291.812|C23.888.592.604.646|F03.625.539 Hirschsprung disease mental retardation syndrome|Hirschsprung Disease-Mental Retardation Syndrome|Microcephaly, Mental Retardation, and Distinct Facial Features, with Or without Hirschsprung Disease|MOWS Congenital abnormality|Digestive system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Moyamoya Disease MESH:D009072 DO:DOID:13099 A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults. MESH:D001157|MESH:D002340|MESH:D002539 C10.228.140.300.200.600|C10.228.140.300.510.200.737|C14.907.137.615|C14.907.253.123.620|C14.907.253.560.200.737 C10.228.140.300.200|C10.228.140.300.510.200|C14.907.137|C14.907.253.123|C14.907.253.560.200 Cerebrovascular Moyamoya Disease|Classic Moyamoya Disease|Disease, Classic Moyamoya|Disease, Moya-Moya|Disease, Primary Moyamoya|Moya Moya Disease|Moya-Moya Disease|Moyamoya Disease, Classic|Moyamoya Disease, Primary|Moyamoya Disease, Secondary|Moyamoya Diseases, Primary|Moyamoya Syndrome|Primary Moyamoya Disease|Primary Moyamoya Diseases|Progressive Intracranial Occlusive Arteropathy (Moyamoya)|Secondary Moyamoya Disease Cardiovascular disease|Nervous system disease Moyamoya disease 1 MESH:C536991 OMIM:252350 MESH:D009072 C10.228.140.300.200.600/C536991|C10.228.140.300.510.200.737/C536991|C14.907.137.615/C536991|C14.907.253.123.620/C536991|C14.907.253.560.200.737/C536991 C10.228.140.300.200.600|C10.228.140.300.510.200.737|C14.907.137.615|C14.907.253.123.620|C14.907.253.560.200.737 MOYAMOYA DISEASE|MYMY|MYMY1|Spontaneous occlusion of the circle of Willis Cardiovascular disease|Nervous system disease Moyamoya disease 2 MESH:C536992 OMIM:607151 MESH:D009072 C10.228.140.300.200.600/C536992|C10.228.140.300.510.200.737/C536992|C14.907.137.615/C536992|C14.907.253.123.620/C536992|C14.907.253.560.200.737/C536992 C10.228.140.300.200.600|C10.228.140.300.510.200.737|C14.907.137.615|C14.907.253.123.620|C14.907.253.560.200.737 MYMY2 Cardiovascular disease|Nervous system disease Moyamoya disease 3 MESH:C536993 OMIM:608796 MESH:D009072 C10.228.140.300.200.600/C536993|C10.228.140.300.510.200.737/C536993|C14.907.137.615/C536993|C14.907.253.123.620/C536993|C14.907.253.560.200.737/C536993 C10.228.140.300.200.600|C10.228.140.300.510.200.737|C14.907.137.615|C14.907.253.123.620|C14.907.253.560.200.737 MYMY3 Cardiovascular disease|Nervous system disease MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM OMIM:300845 DO:DOID:13099 MESH:D007006|MESH:D009072|MESH:D019465 C05.660.207/300845|C10.228.140.300.200.600/300845|C10.228.140.300.510.200.737/300845|C14.907.137.615/300845|C14.907.253.123.620/300845|C14.907.253.560.200.737/300845|C16.131.621.207/300845|C19.391.482/300845 C05.660.207|C10.228.140.300.200.600|C10.228.140.300.510.200.737|C14.907.137.615|C14.907.253.123.620|C14.907.253.560.200.737|C16.131.621.207|C19.391.482 CHROMOSOME Xq28 DELETION SYNDROME, 3.4-KB|MYMY4|SYNDROMIC MOYAMOYA DISEASE Cardiovascular disease|Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Nervous system disease MOYAMOYA DISEASE 5 OMIM:614042 DO:DOID:13099 MESH:D009072 C10.228.140.300.200.600/614042|C10.228.140.300.510.200.737/614042|C14.907.137.615/614042|C14.907.253.123.620/614042|C14.907.253.560.200.737/614042 C10.228.140.300.200.600|C10.228.140.300.510.200.737|C14.907.137.615|C14.907.253.123.620|C14.907.253.560.200.737 MYMY5 Cardiovascular disease|Nervous system disease MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA OMIM:615750 DO:DOID:13099 MESH:D004931|MESH:D009072 C06.405.117.119.500.432/615750|C10.228.140.300.200.600/615750|C10.228.140.300.510.200.737/615750|C14.907.137.615/615750|C14.907.253.123.620/615750|C14.907.253.560.200.737/615750 C06.405.117.119.500.432|C10.228.140.300.200.600|C10.228.140.300.510.200.737|C14.907.137.615|C14.907.253.123.620|C14.907.253.560.200.737 MYMY6 Cardiovascular disease|Digestive system disease|Nervous system disease MPTP Poisoning MESH:D020267 A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8) MESH:D010302|MESH:D020258 C10.228.140.079.862.800.300|C10.228.662.600.700.250|C10.720.606|C25.723.705.400 C10.228.140.079.862.800|C10.228.662.600.700|C10.720|C25.723.705 MPTP Induced Degeneration of the Striatum|MPTP-Induced Degeneration of the Striatum|MPTP Induced Parkinsonism|MPTP-Induced Parkinsonism|MPTP Neurotoxicity Syndrome|MPTP Neurotoxicity Syndromes|Neurotoxicity Syndrome, MPTP|Neurotoxicity Syndromes, MPTP|Parkinsonism, MPTP-Induced|Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine|Poisoning, MPTP Nervous system disease Mthfr Deficiency, Thermolabile Type MESH:C565512 MESH:D006712 C10.228.140.163.100.365/C565512|C16.320.565.100.480.500/C565512|C16.320.565.189.365/C565512|C17.300.428/C565512|C18.452.132.100.365/C565512|C18.452.648.100.480.500/C565512|C18.452.648.189.365/C565512 C10.228.140.163.100.365|C16.320.565.100.480.500|C16.320.565.189.365|C17.300.428|C18.452.132.100.365|C18.452.648.100.480.500|C18.452.648.189.365 Connective tissue disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Mucinoses MESH:D017520 DO:DOID:3141 Mucoid states characterized by the elevated deposition and accumulation of mucin (mucopolysaccharides) in dermal tissue. The fibroblasts are responsible for the production of acid mucopolysaccharides (GLYCOSAMINOGLYCANS) in the ground substance of the connective tissue system. When fibroblasts produce abnormally large quantities of mucopolysaccharides as hyaluronic acid, chondroitin sulfate, or heparin, they accumulate in large amounts in the dermis. MESH:D003240 C17.300.550 C17.300 Mucinosis Connective tissue disease Mucinosis, Follicular MESH:D000507 DO:DOID:9905 A disease of the pilosebaceous unit, presenting clinically as grouped follicular papules or plaques with associated hair loss. It is caused by mucinous infiltration of tissues, and usually involving the scalp, face, and neck. It may be primary (idiopathic) or secondary to mycosis fungoides or reticulosis. MESH:D000505|MESH:D012625|MESH:D017520 C17.300.550.550|C17.800.329.937.122.550|C17.800.794.550 C17.300.550|C17.800.329.937.122|C17.800.794 Alopecia Mucinosa|Follicular Mucinoses|Follicular Mucinosis|Mucinoses, Follicular Connective tissue disease|Skin disease MUCKLE-WELLS SYNDROME OMIM:191900 DO:DOID:0050854 MESH:D000686|MESH:D003638|MESH:D014581|MESH:D056587 C09.218.458.341.186/191900|C10.597.751.418.341.186/191900|C16.320.382.500/191900|C17.800.827.368.500/191900|C17.800.862.945/191900|C17.800.862.945.533.500.500/191900|C18.452.845.500/191900|C20.543.480.904/191900|C20.543.480.904.533.500.500/191900|C23.550.291.500.360.500.500/191900|C23.888.592.763.393.341.186/191900 C09.218.458.341.186|C10.597.751.418.341.186|C16.320.382.500|C17.800.827.368.500|C17.800.862.945|C17.800.862.945.533.500.500|C18.452.845.500|C20.543.480.904|C20.543.480.904.533.500.500|C23.550.291.500.360.500.500|C23.888.592.763.393.341.186 CAPS2|CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2|MWS|UDA SYNDROME|URTICARIA-DEAFNESS-AMYLOIDOSIS SYNDROME Ear-nose-throat disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Mucocele MESH:D009078 A retention cyst of the salivary gland, lacrimal sac, paranasal sinuses, appendix, or gallbladder. (Stedman, 26th ed) MESH:D003560 C04.182.511 C04.182 Mucoceles Cancer Mucocutaneous Lymph Node Syndrome MESH:D009080 DO:DOID:13378|OMIM:611775 An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities. MESH:D008206|MESH:D014657|MESH:D017445 C14.907.940.560|C15.604.560|C17.800.862.560 C14.907.940|C15.604|C17.800.862 INFANTILE POLYARTERITIS|Kawasaki Disease|Kawasaki Syndrome|KD|Lymph Node Syndrome, Mucocutaneous|MUCOCUTANEOUS LYMPH NODE SYNDROME Cardiovascular disease|Lymphatic disease|Skin disease Mucoepidermoid Tumor MESH:D018298 A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575) MESH:D018297 C04.557.470.590.580 C04.557.470.590 Mucoepidermoid Tumors|Tumor, Mucoepidermoid|Tumors, Mucoepidermoid Cancer Mucolipidoses MESH:D009081 DO:DOID:3343|OMIM:252650 A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) MESH:D001851|MESH:D002239|MESH:D020140 C05.116.198.371|C10.228.140.163.100.435.590|C16.320.565.189.435.590|C16.320.565.202.670|C16.320.565.595.554.590|C18.452.132.100.435.590|C18.452.648.189.435.590|C18.452.648.202.670|C18.452.648.595.554.590 C05.116.198|C10.228.140.163.100.435|C16.320.565.189.435|C16.320.565.202|C16.320.565.595.554|C18.452.132.100.435|C18.452.648.189.435|C18.452.648.202|C18.452.648.595.554 Cherry Red Spot Myoclonus Syndrome|Cherry Red Spot-Myoclonus Syndrome|Deficiencies, Glycoprotein Neuraminidase|Deficiency Disease, Ganglioside Sialidase|Deficiency, Glycoprotein Neuraminidase|Ganglioside Sialidase Deficiency Disease|Glycoprotein Neuraminidase Deficiencies|Glycoprotein Neuraminidase Deficiency|I Cell Disease|I-Cell Disease|I-Cell Diseases|Inclusion Cell Disease|Inclusion Cell Diseases|Lipomucopolysaccharidoses|Lipomucopolysaccharidosis|ML4|ML IV|Mucolipidoses, Type I|Mucolipidoses, Type II|Mucolipidoses, Type III|Mucolipidoses, Type IV|Mucolipidosis|Mucolipidosis I|Mucolipidosis II|Mucolipidosis III|Mucolipidosis IIIa|Mucolipidosis III Alpha Beta|Mucolipidosis IV|Mucolipidosis Type 1|Mucolipidosis Type I|Mucolipidosis, Type I|Mucolipidosis Type II|Mucolipidosis, Type II|Mucolipidosis Type III|Mucolipidosis, Type III|Mucolipidosis Type IV|Mucolipidosis, Type IV|Myoclonus Cherry Red Spot Syndrome|Myoclonus-Cherry Red Spot Syndrome|Polydystrophy, Pseudo-Hurler|Pseudo Hurler Polydystrophy|Pseudo-Hurler Polydystrophy|Psuedo Hurler Disease|Psuedo-Hurler Disease|Psuedo-Hurler Diseases|Sialidoses|Sialidosis|Sialolipidoses|Sialolipidosis|Type III Mucolipidoses|Type III Mucolipidosis|Type II Mucolipidoses|Type II Mucolipidosis|Type I Mucolipidoses|Type I Mucolipidosis|Type IV Mucolipidoses|Type IV Mucolipidosis Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Mucolipidosis 2 MESH:C538602 MESH:D009081 C05.116.198.371/C538602|C10.228.140.163.100.435.590/C538602|C16.320.565.189.435.590/C538602|C16.320.565.202.670/C538602|C16.320.565.595.554.590/C538602|C18.452.132.100.435.590/C538602|C18.452.648.189.435.590/C538602|C18.452.648.202.670/C538602|C18.452.648.595.554.590/C538602 C05.116.198.371|C10.228.140.163.100.435.590|C16.320.565.189.435.590|C16.320.565.202.670|C16.320.565.595.554.590|C18.452.132.100.435.590|C18.452.648.189.435.590|C18.452.648.202.670|C18.452.648.595.554.590 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Mucolipidosis II Alpha Beta MESH:C567100 MESH:D000015|MESH:D009081 C05.116.198.371/C567100|C10.228.140.163.100.435.590/C567100|C16.131.077/C567100|C16.320.565.189.435.590/C567100|C16.320.565.202.670/C567100|C16.320.565.595.554.590/C567100|C18.452.132.100.435.590/C567100|C18.452.648.189.435.590/C567100|C18.452.648.202.670/C567100|C18.452.648.595.554.590/C567100 C05.116.198.371|C10.228.140.163.100.435.590|C16.131.077|C16.320.565.189.435.590|C16.320.565.202.670|C16.320.565.595.554.590|C18.452.132.100.435.590|C18.452.648.189.435.590|C18.452.648.202.670|C18.452.648.595.554.590 Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease MUCOLIPIDOSIS II ALPHA/BETA OMIM:252500 DO:DOID:0080070 MESH:C538602 C05.116.198.371/C538602/252500|C10.228.140.163.100.435.590/C538602/252500|C16.320.565.189.435.590/C538602/252500|C16.320.565.202.670/C538602/252500|C16.320.565.595.554.590/C538602/252500|C18.452.132.100.435.590/C538602/252500|C18.452.648.189.435.590/C538602/252500|C18.452.648.202.670/C538602/252500|C18.452.648.595.554.590/C538602/252500 C05.116.198.371/C538602|C10.228.140.163.100.435.590/C538602|C16.320.565.189.435.590/C538602|C16.320.565.202.670/C538602|C16.320.565.595.554.590/C538602|C18.452.132.100.435.590/C538602|C18.452.648.189.435.590/C538602|C18.452.648.202.670/C538602|C18.452.648.595.554.590/C538602 ICD|I-CELL DISEASE|ML II|ML II ALPHA/BETA|MUCOLIPIDOSIS II Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease MUCOLIPIDOSIS III ALPHA/BETA OMIM:252600 DO:DOID:0080071 MESH:C537367 C05.116.198.371/C537367/252600|C10.228.140.163.100.435.590/C537367/252600|C16.320.565.189.435.590/C537367/252600|C16.320.565.202.670/C537367/252600|C16.320.565.595.554.590/C537367/252600|C18.452.132.100.435.590/C537367/252600|C18.452.648.189.435.590/C537367/252600|C18.452.648.202.670/C537367/252600|C18.452.648.595.554.590/C537367/252600 C05.116.198.371/C537367|C10.228.140.163.100.435.590/C537367|C16.320.565.189.435.590/C537367|C16.320.565.202.670/C537367|C16.320.565.595.554.590/C537367|C18.452.132.100.435.590/C537367|C18.452.648.189.435.590/C537367|C18.452.648.202.670/C537367|C18.452.648.595.554.590/C537367 ML III|ML IIIA|ML III ALPHA/BETA|MUCOLIPIDOSIS III|MUCOLIPIDOSIS IIIA|PSEUDO-HURLER POLYDYSTROPHY MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Mucolipidosis III Alpha Beta, Atypical MESH:C567099 MESH:D009081 C05.116.198.371/C567099|C10.228.140.163.100.435.590/C567099|C16.320.565.189.435.590/C567099|C16.320.565.202.670/C567099|C16.320.565.595.554.590/C567099|C18.452.132.100.435.590/C567099|C18.452.648.189.435.590/C567099|C18.452.648.202.670/C567099|C18.452.648.595.554.590/C567099 C05.116.198.371|C10.228.140.163.100.435.590|C16.320.565.189.435.590|C16.320.565.202.670|C16.320.565.595.554.590|C18.452.132.100.435.590|C18.452.648.189.435.590|C18.452.648.202.670|C18.452.648.595.554.590 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Mucolipidosis III Gamma MESH:C565367 DO:DOID:0080678|OMIM:252605 MESH:D009081 C05.116.198.371/C565367|C10.228.140.163.100.435.590/C565367|C16.320.565.189.435.590/C565367|C16.320.565.202.670/C565367|C16.320.565.595.554.590/C565367|C18.452.132.100.435.590/C565367|C18.452.648.189.435.590/C565367|C18.452.648.202.670/C565367|C18.452.648.595.554.590/C565367 C05.116.198.371|C10.228.140.163.100.435.590|C16.320.565.189.435.590|C16.320.565.202.670|C16.320.565.595.554.590|C18.452.132.100.435.590|C18.452.648.189.435.590|C18.452.648.202.670|C18.452.648.595.554.590 ML IIIC|ML III GAMMA|Mucolipidosis IIIC|Mucolipidosis III, Complementation Group C|Mucolipidosis III, Iranian Variant Form|Mucolipidosis III, Variant Form Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Mucolipidosis type 3 A MESH:C537367 MESH:D009081 C05.116.198.371/C537367|C10.228.140.163.100.435.590/C537367|C16.320.565.189.435.590/C537367|C16.320.565.202.670/C537367|C16.320.565.595.554.590/C537367|C18.452.132.100.435.590/C537367|C18.452.648.189.435.590/C537367|C18.452.648.202.670/C537367|C18.452.648.595.554.590/C537367 C05.116.198.371|C10.228.140.163.100.435.590|C16.320.565.189.435.590|C16.320.565.202.670|C16.320.565.595.554.590|C18.452.132.100.435.590|C18.452.648.189.435.590|C18.452.648.202.670|C18.452.648.595.554.590 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Mucopolysaccharidoses MESH:D009083 DO:DOID:12798 Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. MESH:D002239|MESH:D016464|MESH:D017520 C16.320.565.202.715|C16.320.565.595.600|C17.300.550.575|C18.452.648.202.715|C18.452.648.595.600 C16.320.565.202|C16.320.565.595|C17.300.550|C18.452.648.202|C18.452.648.595 Mucopolysaccharidosis Connective tissue disease|Genetic disease (inborn)|Metabolic disease Mucopolysaccharidoses, Unclassified Types MESH:C562442 MESH:D009083 C16.320.565.202.715/C562442|C16.320.565.595.600/C562442|C17.300.550.575/C562442|C18.452.648.202.715/C562442|C18.452.648.595.600/C562442 C16.320.565.202.715|C16.320.565.595.600|C17.300.550.575|C18.452.648.202.715|C18.452.648.595.600 Connective tissue disease|Genetic disease (inborn)|Metabolic disease Mucopolysaccharidosis I MESH:D008059 DO:DOID:0111389|DO:DOID:0111390|DO:DOID:12802|OMIM:607014|OMIM:607015|OMIM:607016 Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. MESH:D009083 C16.320.565.202.715.640|C16.320.565.595.600.640|C17.300.550.575.640|C18.452.648.202.715.640|C18.452.648.595.600.640 C16.320.565.202.715|C16.320.565.595.600|C17.300.550.575|C18.452.648.202.715|C18.452.648.595.600 alpha-L-Iduronidase Deficiencies|alpha L Iduronidase Deficiency|alpha-L-Iduronidase Deficiency|Disease, Hurler's|Gargoylism|Gargoylism, Hurler Syndrome|Gargoylisms|Hurler Disease|Hurler Scheie Syndrome|Hurler-Scheie Syndrome|Hurler's Disease|Hurler's Syndrome|Hurler Syndrome|Hurler Syndrome Gargoylism|Lipochondrodystrophies|Lipochondrodystrophy|MPS1-H|MPS1-HS|MPS1-S|MPS5, FORMERLY|MPS V, FORMERLY|Mucopolysaccharidosis 1|Mucopolysaccharidosis 5|Mucopolysaccharidosis Is|Mucopolysaccharidosis I S|Mucopolysaccharidosis I-S|Mucopolysaccharidosis Type I|Mucopolysaccharidosis Type Ih|Mucopolysaccharidosis Type Ihs|Mucopolysaccharidosis Type Ih S|MUCOPOLYSACCHARIDOSIS TYPE IH/S|Mucopolysaccharidosis Type Is|MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY|Mucopolysaccharidosis V|Pfaundler-Hurler Syndrome|Scheie's Syndrome|Scheie Syndrome|Syndrome, Hurler's|Syndrome, Scheie's|Type Ih, Mucopolysaccharidosis|Type Ihs, Mucopolysaccharidosis Connective tissue disease|Genetic disease (inborn)|Metabolic disease Mucopolysaccharidosis II MESH:D016532 DO:DOID:12799|OMIM:309900 Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15. MESH:D009083|MESH:D038901 C10.597.606.360.455.750|C16.320.322.500.750|C16.320.400.525.750|C16.320.565.202.715.645|C16.320.565.595.600.645|C17.300.550.575.645|C18.452.648.202.715.645|C18.452.648.595.600.645 C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C16.320.565.202.715|C16.320.565.595.600|C17.300.550.575|C18.452.648.202.715|C18.452.648.595.600 Deficiency, I2S|Deficiency, Iduronate 2-Sulfatase|Deficiency, Iduronate Sulfatase|Deficiency, Sulfoiduronate Sulfatase|Gargoylism, Hunter Syndrome|Hunter's Syndrome|Hunters Syndrome|Hunter Syndrome|Hunter Syndrome Gargoylism|I2S Deficiency|IDS DEFICIENCY|Iduronate 2 Sulfatase Deficiency|Iduronate 2-Sulfatase Deficiency|Iduronate Sulfatase Deficiency|MPS2|MPS II|Mucopolysaccharidosis 2|Mucopolysaccharidosis Type 2|Mucopolysaccharidosis Type II|MUCOPOLYSACCHARIDOSIS, TYPE II|SIDS DEFICIENCY|Sulfoiduronate Sulfatase Deficiency|Syndrome, Hunter|Syndrome, Hunter's Connective tissue disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Mucopolysaccharidosis III MESH:D009084 DO:DOID:0111393|DO:DOID:0111394|DO:DOID:0111395|DO:DOID:0111402|DO:DOID:12801|OMIM:252900|OMIM:252920|OMIM:252930|OMIM:252940 Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme. MESH:D009083 C16.320.565.202.715.650|C16.320.565.595.600.650|C17.300.550.575.650|C18.452.648.202.715.650|C18.452.648.595.600.650 C16.320.565.202.715|C16.320.565.595.600|C17.300.550.575|C18.452.648.202.715|C18.452.648.595.600 Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies|Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency|Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency|Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase|Deficiencies, N-Acetyl-alpha-D-Glucosaminidase|Deficiencies, N-Acetylglucosamine-6-Sulfatase|Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase|Deficiencies, NAGLU|Deficiencies, Sulfamidase|Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase|Deficiency, N-Acetyl-alpha-D-Glucosaminidase|Deficiency, N-Acetylglucosamine-6-Sulfatase|Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase|Deficiency, NAGLU|Deficiency, Sulfamidase|Heparan Sulfate Sulfatase Deficiency|MPS 3 A|MPS3A|MPS 3 B|MPS3B|MPS 3 C|MPS3C|MPS 3 D|MPS3D|MPS III A|MPS IIIA|MPS III B|MPS IIIB|MPS III C|MPS IIIC|MPS III D|MPS IIID|MPS IIIDs|Mucopolysaccharidosis 3|Mucopolysaccharidosis IIIs|Mucopolysaccharidosis Type 3 A|Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome|Mucopolysaccharidosis Type 3 B|Mucopolysaccharidosis Type 3 C|Mucopolysaccharidosis Type 3 D|Mucopolysaccharidosis Type IIIA|MUCOPOLYSACCHARIDOSIS, TYPE IIIA|Mucopolysaccharidosis Type IIIAs|Mucopolysaccharidosis Type IIIB|MUCOPOLYSACCHARIDOSIS, TYPE IIIB|Mucopolysaccharidosis Type IIIBs|Mucopolysaccharidosis Type IIIC|MUCOPOLYSACCHARIDOSIS, TYPE IIIC|Mucopolysaccharidosis Type IIICs|Mucopolysaccharidosis Type IIID|MUCOPOLYSACCHARIDOSIS, TYPE IIID|Mucopolysaccharidosis Type IIIDs|N-Acetyl-alpha-D-Glucosaminidase Deficiencies|N Acetyl alpha D Glucosaminidase Deficiency|N-Acetyl-alpha-D-Glucosaminidase Deficiency|N-Acetylglucosamine-6-Sulfatase Deficiencies|N Acetylglucosamine 6 Sulfatase Deficiency|N-Acetylglucosamine-6-Sulfatase Deficiency|N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies|N Acetylglucosamine 6 Sulfate Sulfatase Deficiency|N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency|N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide|N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide|NAGLU Deficiencies|NAGLU Deficiency|Oligophrenia, Polydystrophic|Oligophrenias, Polydystrophic|Polydystrophic Oligophrenia|Polydystrophic Oligophrenias|Sanfilippo's Syndrome|Sanfilippos Syndrome|San Filippo's Syndrome|San Filippos Syndrome|Sanfilippo Syndrome|San Filippo Syndrome|Sanfilippo Syndrome A|Sanfilippo Syndrome B|Sanfilippo Syndrome C|Sanfilippo Syndrome D|Sanfilippo Syndromes|Sulfamidase Deficiencies|Sulfamidase Deficiency|Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate|Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate|Syndrome, Sanfilippo|Syndrome, Sanfilippo's|Syndrome, San Filippo's|Syndromes, Sanfilippo Connective tissue disease|Genetic disease (inborn)|Metabolic disease Mucopolysaccharidosis IV MESH:D009085 DO:DOID:0111391|DO:DOID:0111392|DO:DOID:12804|OMIM:253000|OMIM:253010 Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme. MESH:D009083 C16.320.565.202.715.655|C16.320.565.595.600.655|C17.300.550.575.655|C18.452.648.202.715.655|C18.452.648.595.600.655 C16.320.565.202.715|C16.320.565.595.600|C17.300.550.575|C18.452.648.202.715|C18.452.648.595.600 Deficiencies, Galactosamine-6-Sulfatase|Deficiencies, GALNS|Deficiency, Galactosamine-6-Sulfatase|Deficiency, GALNS|Disease, Morquio|Disease, Morquio A|Disease, Morquio-B|Disease, Morquio's|Eccentroosteochondrodysplasia|Eccentro Osteochondrodysplasia|Eccentro-Osteochondrodysplasia|Eccentroosteochondrodysplasias|Eccentro-Osteochondrodysplasias|Galactosamine-6-Sulfatase Deficiencies|Galactosamine 6 Sulfatase Deficiency|Galactosamine-6-Sulfatase Deficiency|GALNS Deficiencies|GALNS Deficiency|IV, Mucopolysaccharidosis Type|IVs, Mucopolysaccharidosis Type|Morquio A Disease|Morquio B Disease|Morquio-B Disease|Morquio B Syndrome|Morquio Disease|Morquio's Disease|Morquios Disease|Morquio's Disease Type B|Morquio's Syndrome|Morquios Syndrome|Morquio Syndrome|Morquio Syndrome A|Morquio Syndrome B|Morquio Syndromes|Morquio Syndrome, Type B|MPS4A|MPS4B|MPS IV A|MPS IVA|MPS IV B|MPS IVB|Mucopolysaccharidosis 4|Mucopolysaccharidosis 4B|Mucopolysaccharidosis 4Bs|Mucopolysaccharidosis Type IV|Mucopolysaccharidosis Type IV A|Mucopolysaccharidosis Type IVA|MUCOPOLYSACCHARIDOSIS, TYPE IVA|Mucopolysaccharidosis Type IV B|Mucopolysaccharidosis Type IVB|MUCOPOLYSACCHARIDOSIS, TYPE IVB|Mucopolysaccharidosis Type IVBs|Mucopolysaccharidosis Type IVs|Syndrome A, Morquio|Syndrome, Morquio|Syndrome, Morquio B|Syndrome, Morquio's|Syndromes, Morquio|Type IV, Mucopolysaccharidosis|Type IVs, Mucopolysaccharidosis Connective tissue disease|Genetic disease (inborn)|Metabolic disease MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME OMIM:617303 MESH:D009083 C16.320.565.202.715/617303|C16.320.565.595.600/617303|C17.300.550.575/617303|C18.452.648.202.715/617303|C18.452.648.595.600/617303 C16.320.565.202.715|C16.320.565.595.600|C17.300.550.575|C18.452.648.202.715|C18.452.648.595.600 MPSPS Connective tissue disease|Genetic disease (inborn)|Metabolic disease Mucopolysaccharidosis Type VIII MESH:C563094 MESH:D009083 C16.320.565.202.715/C563094|C16.320.565.595.600/C563094|C17.300.550.575/C563094|C18.452.648.202.715/C563094|C18.452.648.595.600/C563094 C16.320.565.202.715|C16.320.565.595.600|C17.300.550.575|C18.452.648.202.715|C18.452.648.595.600 Diferrante Syndrome|Glucosamine-6-Sulfate Sulfatase Deficiency|MPS VIII Connective tissue disease|Genetic disease (inborn)|Metabolic disease Mucopolysaccharidosis VI MESH:D009087 DO:DOID:12800|OMIM:253200 Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B). MESH:D009083 C16.320.565.202.715.670|C16.320.565.595.600.670|C17.300.550.575.670|C18.452.648.202.715.670|C18.452.648.595.600.670 C16.320.565.202.715|C16.320.565.595.600|C17.300.550.575|C18.452.648.202.715|C18.452.648.595.600 ARSB Deficiencies|ARSB Deficiency|Arylsulfatase B Deficiencies|Arylsulfatase B Deficiency|Deficiencies, ARSB|Deficiencies, Arylsulfatase B|Deficiencies, N-Acetylgalactosamine-4-Sulfatase|Deficiency, ARSB|Deficiency, Arylsulfatase B|Deficiency, N-Acetylgalactosamine-4-Sulfatase|Dwarfism, Polydystrophic|Maroteaux Lamy Syndrome|Maroteaux-Lamy Syndrome|MPS6|MPS VI|Mucopolysaccharidosis 6|Mucopolysaccharidosis Type 6|Mucopolysaccharidosis Type VI|MUCOPOLYSACCHARIDOSIS, TYPE VI|N-Acetylgalactosamine-4-Sulfatase Deficiencies|N-Acetylgalactosamine-4-Sulfatase Deficiency|Polydystrophic Dwarfism|Syndrome, Maroteaux-Lamy|Type 6, Mucopolysaccharidosis|Type VI, Mucopolysaccharidosis Connective tissue disease|Genetic disease (inborn)|Metabolic disease Mucopolysaccharidosis VII MESH:D016538 DO:DOID:12803|OMIM:253220 Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase. MESH:D009083 C16.320.565.202.715.675|C16.320.565.595.600.675|C17.300.550.575.675|C18.452.648.202.715.675|C18.452.648.595.600.675 C16.320.565.202.715|C16.320.565.595.600|C17.300.550.575|C18.452.648.202.715|C18.452.648.595.600 beta-Glucuronidase Deficiencies|beta Glucuronidase Deficiency|beta-Glucuronidase Deficiency|Deficiencies, beta-Glucuronidase|Deficiencies, GUSB|Deficiency, beta-Glucuronidase|Deficiency, GUSB|Disease, Sly|GUSB Deficiencies|GUSB Deficiency|MPS7|MPS VII|Mucopolysaccharidosis 7|Mucopolysaccharidosis Type VII|MUCOPOLYSACCHARIDOSIS, TYPE VII|Mucopolysaccharidosis Type VIIs|Mucopolysaccharidosis VIIs|Sly Disease|Sly Syndrome|Syndrome, Sly|Type VII, Mucopolysaccharidosis|Type VIIs, Mucopolysaccharidosis|VIIs, Mucopolysaccharidosis Connective tissue disease|Genetic disease (inborn)|Metabolic disease Mucor infection MESH:C000656945 MESH:D009091 C01.150.703.980.600/C000656945 C01.150.703.980.600 Mucor infections Bacterial infection or mycosis Mucormycosis MESH:D009091 DO:DOID:8485 Infection in humans and animals caused by any fungus in the order MUCORALES (e.g., RHIZOPUS; MUCOR; CUNNINGHAMELLA; APOPHYSOMYCES; ABSIDIA; SAKSENAEA and RHIZOMUCOR) There are many clinical types associated with infection including central nervous system, lung, gastrointestinal tract, skin, orbit and paranasal sinuses. In humans, it usually occurs as an OPPORTUNISTIC INFECTION. MESH:D020096 C01.150.703.980.600 C01.150.703.980 Infection, Mucorales|Mucorales Infection|Mucorales Infections|Mucormycose|Mucormycoses Bacterial infection or mycosis Mucositis MESH:D052016 DO:DOID:0080178 An INFLAMMATION of the MUCOSA with burning or tingling sensation. It is characterized by atrophy of the squamous EPITHELIUM, vascular damage, inflammatory infiltration, and ulceration. It usually occurs at the mucous lining of the MOUTH, the GASTROINTESTINAL TRACT or the airway due to chemical irritations, CHEMOTHERAPY, or radiation therapy (RADIOTHERAPY). MESH:D005759|MESH:D009059 C06.405.205.798|C07.465.584 C06.405.205|C07.465 Mucositides Digestive system disease|Mouth disease Mucus Inspissation of Respiratory Tract MESH:C565366 MESH:D029424 C08.381.495.389/C565366|C23.550.291.500.875/C565366 C08.381.495.389|C23.550.291.500.875 Pathology (process)|Respiratory tract disease Muenke Syndrome MESH:C537369 DO:DOID:0060703|OMIM:602849 MESH:D003398 C05.116.099.370.894.232/C537369|C05.660.207.240/C537369|C05.660.906.364/C537369|C16.131.621.207.240/C537369|C16.131.621.906.364/C537369 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364 FGFR3-Associated Coronal Synostosis|MNKES|Muenke nonsyndromic coronal craniosynostosis|Syndrome of coronal craniosynostosis Congenital abnormality|Musculoskeletal disease Muir-Torre Syndrome MESH:D055653 DO:DOID:0050465|OMIM:158320 A form of LYNCH SYNDROME II associated with cutaneous SEBACEOUS GLAND NEOPLASMS. Muir-Torre syndrome is also associated with other visceral malignant diseases include colorectal, endometrial, urological, and upper gastrointestinal neoplasms. MESH:D012626|MESH:D012873|MESH:D055847 C04.588.805.578.500|C04.700.250.500.500|C16.320.700.250.500.500|C17.800.794.712.500|C17.800.827.610|C17.800.882.712.500 C04.588.805.578|C04.700.250.500|C16.320.700.250.500|C17.800.794.712|C17.800.827|C17.800.882.712 CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS|MRTES|Muir Torre Syndrome|Syndrome, Muir-Torre Cancer|Genetic disease (inborn)|Skin disease Mulibrey Nanism MESH:D050336 DO:DOID:0050436|OMIM:253250 Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein. MESH:D004392 C05.116.099.343.796|C16.320.240.875 C05.116.099.343|C16.320.240 MUL|Mulibrey Nanism Syndrome|Muscle Liver Brain Eye Nanism|Muscle-Liver-Brain-Eye Nanism|Nanism, Mulibrey|Nanism, Muscle-Liver-Brain-Eye|Nanism Syndrome, Mulibrey|Perheentupa Syndrome|PERICARDIAL CONSTRICTION AND GROWTH FAILURE|Syndrome, Mulibrey Nanism|Syndrome, Perheentupa Genetic disease (inborn)|Musculoskeletal disease Muller Barth Menger syndrome MESH:C537370 MESH:D000015|MESH:D006228|MESH:D006983|MESH:D012640|MESH:D054220 C05.390.408/C537370|C05.660.585.988.425/C537370|C10.500.507/C537370|C10.597.742/C537370|C16.131.077/C537370|C16.131.621.585.988.500/C537370|C16.131.666.507/C537370|C17.800.329.875/C537370|C23.888.592.742/C537370 C05.390.408|C05.660.585.988.425|C10.500.507|C10.597.742|C16.131.077|C16.131.621.585.988.500|C16.131.666.507|C17.800.329.875|C23.888.592.742 Cerebral malformation, seizures, hypertrichosis, and overlapping fingers Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Mullerian aplasia MESH:C537371 MESH:D000013|MESH:D058489 C12.050.351.875.253.064/C537371|C12.200.706.316.064/C537371|C12.800.316.064/C537371|C16.131.939.316.064/C537371|C16.131/C537371|C19.391.119.064/C537371 C12.050.351.875.253.064|C12.200.706.316.064|C12.800.316.064|C16.131|C16.131.939.316.064|C19.391.119.064 Congenital absence of uterus and vagina|Klippel-Feil deformity, conductive deafness, and absent vagina|Mayer Rokitansky Kuster Hauser syndrome|Mayer-Rokitansky-Kuster-Hauser Syndrome|Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II|MRK anomaly|MRKH anomaly|MRKH Syndrome|MRKH, Type II|Muellerian aplasia|Mullerian Aplasia-Dysgenesis|Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies|Mullerian duct failure|MURCS association|RKH syndrome|Rokitansky Kuster Hauser syndrome|Rokitansky sequence|Uterus bipartitus solidus rudimentarius cum vagina solida|Von Mayer Rokitansky Kuster anomaly|Von Mayer-Rokitansky-Kuster Anomaly Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Mullerian Aplasia and Hyperandrogenism MESH:C567186 DO:DOID:0111526|OMIM:158330 MESH:D017588 C12.050.351.875.253.064.500/C567186|C12.050.351.875.253.090.750/C567186|C12.200.706.316.064.500/C567186|C12.200.706.316.090.750/C567186|C12.800.316.064.500/C567186|C12.800.316.090.750/C567186|C16.131.939.316.064.500/C567186|C16.131.939.316.129.750/C567186|C19.391.119.064.500/C567186|C19.391.119.090.750/C567186 C12.050.351.875.253.064.500|C12.050.351.875.253.090.750|C12.200.706.316.064.500|C12.200.706.316.090.750|C12.800.316.064.500|C12.800.316.090.750|C16.131.939.316.064.500|C16.131.939.316.129.750|C19.391.119.064.500|C19.391.119.090.750 Mullerian Duct Failure and Hyperandrogenism Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME OMIM:166300 DO:DOID:0111534 MESH:C536051 C05.116.264.579/C536051/166300 C05.116.264.579/C536051 MCTO|MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT|OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY Musculoskeletal disease Multi-centric Castleman's Disease MESH:C537372 DO:DOID:0111152 MESH:D005871 C15.604.515.245/C537372|C20.683.515.250/C537372 C15.604.515.245|C20.683.515.250 HHV-8-Associated Multicentric Castleman Disease|HHV8 Multicentric Castleman Disease|HHV-8-negative idiopathic multicentric Castleman disease|HHV-8-negative MCD|Idiopathic multicentric Castleman's disease|KSHV-Associated Multicentric Castleman Disease|KSHV Muticentric Castleman Disease|Multicentric Castleman's disease|Multicentric plasma cell variant of Castleman's disease|Plasmablastic multicentric Castleman disease|TAFRO HHV-8-negative multicentric Castleman disease.|TAFRO syndrome|thrombocytopenia anasarca fever renal dysfunction and organomegaly syndrome Immune system disease|Lymphatic disease Multicystic Dysplastic Kidney MESH:D021782 A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY. MESH:D014564|MESH:D052177 C12.050.351.875.558|C12.050.351.968.419.403.750|C12.200.706.629|C12.200.777.419.403.750|C12.800.629|C12.950.419.403.750|C16.131.939.629 C12.050.351.875|C12.050.351.968.419.403|C12.200.706|C12.200.777.419.403|C12.800|C12.950.419.403|C16.131.939 Bilateral Multicystic Dysplastic Kidneys|Dysplasia, Multicystic Kidney|Dysplasia, Multicystic Renal|Dysplasias, Multicystic Kidney|Dysplasias, Multicystic Renal|Kidney Dysplasia, Multicystic|Kidney Dysplasias, Multicystic|Multicystic Dysplastic Kidneys|Multicystic Kidney|Multicystic Kidney Dysplasia|Multicystic Kidney Dysplasias|Multicystic Kidneys|Multicystic Renal Dysplasia|Multicystic Renal Dysplasias|Renal Dysplasia, Multicystic|Renal Dysplasias, Multicystic|Unilateral Multicystic Dysplastic Kidney Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Multicystic renal dysplasia, bilateral MESH:C537373 OMIM:143400 MESH:D006869|MESH:D014517|MESH:D021782 C12.050.351.875.558/C537373|C12.050.351.968.419.307/C537373|C12.050.351.968.419.403.750/C537373|C12.050.351.968.725.776/C537373|C12.200.706.629/C537373|C12.200.777.419.307/C537373|C12.200.777.419.403.750/C537373|C12.200.777.725.776/C537373|C12.800.629/C537373|C12.950.419.307/C537373|C12.950.419.403.750/C537373|C12.950.725.776/C537373|C16.131.939.629/C537373 C12.050.351.875.558|C12.050.351.968.419.307|C12.050.351.968.419.403.750|C12.050.351.968.725.776|C12.200.706.629|C12.200.777.419.307|C12.200.777.419.403.750|C12.200.777.725.776|C12.800.629|C12.950.419.307|C12.950.419.403.750|C12.950.725.776|C16.131.939.629 CAKUT2|CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2|Hydronephrosis Due To Pujo|MCRD|MULTICYSTIC RENAL DYSPLASIA, BILATERAL|Pelvi-ureteric junction obstruction|Pelviureteric Junction Obstruction|PUJO|UPJO|URETEROPELVIC JUNCTION OBSTRUCTION Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Multifocal Choroiditis MESH:D000080364 A multifocal uveitis syndrome involving the RETINAL PIGMENT EPITHELIUM and capillary layer of the CHOROID. It is characterized by chronic UVEITIS and multiple CHOROID lesions referred to as white dots, blurry vision, floaters, sensitivity to light, blind spots, and eye discomfort. MESH:D000080363|MESH:D002833 C11.941.160.478.550|C11.941.879.780.900.300.489|C11.941.879.780.900.650.500 C11.941.160.478|C11.941.879.780.900.300|C11.941.879.780.900.650 Choroiditis, Multifocal Eye disease Multifocal fibrosclerosis MESH:C537375 MESH:D012185 C23.550.355.700/C537375 C23.550.355.700 Fibrosclerosis, Multifocal|Mediastinal fibrosis, familial|Retroperitoneal fibrosis, familial Pathology (process) Multiple Acyl Coenzyme A Dehydrogenase Deficiency MESH:D054069 DO:DOID:0060358|OMIM:231680 An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1). MESH:D000592|MESH:D028361 C16.320.565.100.614|C18.452.648.100.614|C18.452.660.612 C16.320.565.100|C18.452.648.100|C18.452.660 Aciduria, Ethylmalonic-Adipic|Acidurias, Ethylmalonic-Adipic|Electron Transfer Flavoprotein Alpha Subunit Deficiency|Electron Transfer Flavoprotein Beta Subunit Deficiency|Electron Transfer Flavoprotein Deficiency|Electron Transfer Flavoprotein Dehydrogenase Deficiency|ETFA Deficiencies|ETFA Deficiency|ETFA DEFICIENCY, INCLUDED|ETFB Deficiencies|ETFB Deficiency|ETFB DEFICIENCY, INCLUDED|ETFDH Deficiencies|ETFDH Deficiency|ETFDH DEFICIENCY, INCLUDED|Ethylmalonic Adipicaciduria|Ethylmalonic-Adipicaciduria|Ethylmalonic Adipic Aciduria|Ethylmalonic-Adipic Aciduria|ETHYLMALONIC-ADIPICACIDURIA;EMA GLUTARIC ACIDEMIA IIA, INCLUDED|Ethylmalonic-Adipic Acidurias|GA2|GA2A, INCLUDED|GA2B, INCLUDED|GA2C, INCLUDED|GA II|GLUTARIC ACIDEMIA II|GLUTARIC ACIDEMIA IIB, INCLUDED|GLUTARIC ACIDEMIA IIC, INCLUDED|Glutaric Acidemia, Type 2|Glutaric Acidemia Type II|Glutaric Aciduria II|Glutaric Aciduria IIA|Glutaric Aciduria IIB|Glutaric Aciduria IIC|Glutaric Aciduria Type 2|Glutaric Aciduria, Type 2|Glutaric Aciduria Type II|MADD|MADD (Multiple Acyl CoA Dehydrogenase Deficiency)|MADD (Multiple Acyl-CoA Dehydrogenase Deficiency)|MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency)|Multiple Acyl CoA Dehydrogenase Deficiency|Multiple Acyl-CoA Dehydrogenase Deficiency|Multiple FAD Dehydrogenase Deficiency Genetic disease (inborn)|Metabolic disease Multiple Amputations, Traumatic MESH:D000092283 The loss of part of, or all of, more than one limb, or other appendages of the body due to injury or disease. MESH:D000673 C26.062.500 C26.062 Amputations, Multiple, Traumatic|Amputations, Traumatic Multi-Limb|Amputations, Traumatic Multiple|Amputation, Traumatic Multi-Limb|Amputation, Traumatic Multiple|Multi Limb Amputations, Traumatic|Multi-Limb Amputations, Traumatic|Multi-Limb Amputation, Traumatic|Multiple Amputation, Traumatic|Multiple Extremity Amputations, Traumatic|Multiple Limb Amputations, Traumatic|Traumatic Multi-Limb Amputation|Traumatic Multi-Limb Amputations|Traumatic Multiple Amputation|Traumatic Multiple Amputations Wounds and injuries Multiple Carboxylase Deficiency MESH:D009100 DO:DOID:857 A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. MESH:D000592|MESH:D002239 C16.320.565.100.620|C16.320.565.202.720|C18.452.648.100.620|C18.452.648.202.720 C16.320.565.100|C16.320.565.202|C18.452.648.100|C18.452.648.202 Carboxylase Deficiencies, Combined|Carboxylase Deficiencies, Multiple|Carboxylase Deficiency, Combined|Carboxylase Deficiency, Multiple|Combined Carboxylase Deficiencies|Combined Carboxylase Deficiency|Deficiencies, Combined Carboxylase|Deficiencies, Multiple Carboxylase|Deficiency, Combined Carboxylase|Deficiency, Multiple Carboxylase|Multiple Carboxylase Deficiencies Genetic disease (inborn)|Metabolic disease Multiple Carboxylase Deficiency, Juvenile-Onset MESH:C565365 MESH:D009100 C16.320.565.100.620/C565365|C16.320.565.202.720/C565365|C18.452.648.100.620/C565365|C18.452.648.202.720/C565365 C16.320.565.100.620|C16.320.565.202.720|C18.452.648.100.620|C18.452.648.202.720 Genetic disease (inborn)|Metabolic disease Multiple Chemical Sensitivity MESH:D018777 DO:DOID:4661 An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen MR. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61) MESH:D018876 C20.543.312.500|C21.223.500 C20.543.312|C21.223 Chemical Sensitivities, Multiple|Chemical Sensitivity, Multiple|Environmental Intolerance, Idiopathic|Environmental Intolerances, Idiopathic|Idiopathic Environmental Intolerance|Idiopathic Environmental Intolerances|Intolerance, Idiopathic Environmental|Intolerances, Idiopathic Environmental|Multiple Chemical Sensitivities|Multiple Chemical Sensitivity Syndrome|Sensitivities, Multiple Chemical|Sensitivity, Multiple Chemical Environmental origin disorders|Immune system disease Multiple Chronic Conditions MESH:D000071069 Two or more concurrent chronic physical, mental, or behavioral health problems in an individual. MESH:D002908 C23.550.291.500.500 C23.550.291.500 Chronic Conditions, Multiple|Chronic Illnesses, Multiple|Multiple Chronic Health Conditions|Multiple Chronic Illnesses|Multiple Chronic Medical Conditions Pathology (process) MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 OMIM:614080 DO:DOID:0080138 MESH:D009123|MESH:D012640 C10.597.613.575/614080|C10.597.742/614080|C23.888.592.608.575/614080|C23.888.592.742/614080 C10.597.613.575|C10.597.742|C23.888.592.608.575|C23.888.592.742 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3|GPIBD3|MCAHS1 Nervous system disease|Signs and symptoms MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 OMIM:300868 DO:DOID:0080139 MESH:D009123|MESH:D012640 C10.597.613.575/300868|C10.597.742/300868|C23.888.592.608.575/300868|C23.888.592.742/300868 C10.597.613.575|C10.597.742|C23.888.592.608.575|C23.888.592.742 DEE20|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 20|EIEE20|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20|GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4|GPIBD4|MCAHS2 Nervous system disease|Signs and symptoms MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 OMIM:615398 DO:DOID:0080140 MESH:D009123|MESH:D012640 C10.597.613.575/615398|C10.597.742/615398|C23.888.592.608.575/615398|C23.888.592.742/615398 C10.597.613.575|C10.597.742|C23.888.592.608.575|C23.888.592.742 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7|GPIBD7|MCAHS3|M SYNDROME Nervous system disease|Signs and symptoms Multiple Congenital Anomalies Syndrome with Cloverleaf Skull MESH:C564611 MESH:D000015|MESH:D010009 C05.116.099.708/C564611|C16.131.077/C564611|C16.320.728/C564611 C05.116.099.708|C16.131.077|C16.320.728 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Multiple Endocrine Neoplasia MESH:D009377 DO:DOID:3125 A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively. MESH:D004701|MESH:D009378|MESH:D009386 C04.588.322.400|C04.651.600|C04.700.630|C16.320.700.630|C19.344.400 C04.588.322|C04.651|C04.700|C16.320.700|C19.344 Adenomatoses, Familial Endocrine|Adenomatoses, Multiple Endocrine|Adenomatosis, Familial Endocrine|Adenomatosis, Multiple Endocrine|Adenopathies, Multiple Endocrine|Adenopathy, Multiple Endocrine|Endocrine Adenomatoses, Familial|Endocrine Adenomatoses, Multiple|Endocrine Adenomatosis, Familial|Endocrine Adenomatosis, Multiple|Endocrine Adenopathies, Multiple|Endocrine Adenopathy, Multiple|Endocrine Neoplasia, Multiple|Endocrine Neoplasms, Multiple|Familial Endocrine Adenomatoses|Familial Endocrine Adenomatosis|Multiple Endocrine Adenomatoses|Multiple Endocrine Adenomatosis|Multiple Endocrine Adenopathies|Multiple Endocrine Adenopathy|Multiple Endocrine Neoplasia Syndrome|Multiple Endocrine Neoplasia Syndromes|Multiple Endocrine Neoplasms|Neoplasia, Multiple Endocrine|Neoplasms, Multiple Endocrine Cancer|Endocrine system disease|Genetic disease (inborn) Multiple Endocrine Neoplasia Type 1 MESH:D018761 DO:DOID:10017|OMIM:131100 A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in the PARATHYROID GLANDS, the PITUITARY GLAND, and the PANCREATIC ISLETS. The resulting clinical signs include HYPERPARATHYROIDISM; HYPERCALCEMIA; HYPERPROLACTINEMIA; CUSHING DISEASE; GASTRINOMA; and ZOLLINGER-ELLISON SYNDROME. This disease is due to loss-of-function of the MEN1 gene, a tumor suppressor gene (GENES, TUMOR SUPPRESSOR) on CHROMOSOME 11 (Locus: 11q13). MESH:D009377 C04.588.322.400.500|C04.651.600.500|C04.700.630.500|C16.320.700.630.500|C19.344.400.500 C04.588.322.400|C04.651.600|C04.700.630|C16.320.700.630|C19.344.400 ENDOCRINE ADENOMATOSIS, MULTIPLE|MEA I|MEN1|MEN I|Multiple Endocrine Neoplasia Type I|MULTIPLE ENDOCRINE NEOPLASIA, TYPE I|Multiple Endocrine Neoplasms Type 1|Neoplasia, Multiple Endocrine Type 1|Neoplasms, Multiple Endocrine Type 1|Neoplasms, Multiple Endocrine Type I|Wermer Syndrome|WERMER SYNDROME MEN1 SOMATIC MUTATIONS, INCLUDED Cancer|Endocrine system disease|Genetic disease (inborn) Multiple Endocrine Neoplasia Type 2a MESH:D018813 DO:DOID:0050430|OMIM:171400 A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease. MESH:D009377 C04.588.322.400.505|C04.651.600.505|C04.700.630.505|C16.320.700.630.505|C19.344.400.505 C04.588.322.400|C04.651.600|C04.700.630|C16.320.700.630|C19.344.400 MEA 2a|MEA II|MEA IIa|MEN 2|MEN 2a|MEN2a|MEN 2A Syndrome|MEN-2A Syndrome|MEN-2A Syndromes|MEN II|MEN IIa|Multiple Endocrine Neoplasia Type 2|Multiple Endocrine Neoplasia, Type IIa|Multiple Endocrine Neoplasms Type 2a|Neoplasia, Multiple Endocrine Type 2a|Neoplasms, Multiple Endocrine Type 2a|Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma|Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma|PTC SYNDROME|Sipple Syndrome|SIPPLE SYNDROME THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED Cancer|Endocrine system disease|Genetic disease (inborn) Multiple Endocrine Neoplasia Type 2b MESH:D018814 DO:DOID:10016|OMIM:162300 Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease. MESH:D009377 C04.588.322.400.510|C04.651.600.510|C04.700.630.510|C16.320.700.630.510|C19.344.400.510 C04.588.322.400|C04.651.600|C04.700.630|C16.320.700.630|C19.344.400 MEA 2b|MEA IIb|MEN 2b|MEN2b|MEN 3|MEN IIb|MEN III|Mucosal Neuroma Syndrome|Mucosal Neuroma Syndromes|Multiple Endocrine Neoplasia, Type 2b|Multiple Endocrine Neoplasia, Type IIb|MULTIPLE ENDOCRINE NEOPLASIA, TYPE III, FORMERLY;MEN3, FORMERLY MUCOSAL NEUROMA SYNDROME, INCLUDED|Multiple Endocrine Neoplasms Type 2b|Neoplasia, Multiple Endocrine Type 2b|Neoplasms, Multiple Endocrine Type 2b|Neuroma Syndrome, Mucosal|Neuromata, Mucosal, With Endocrine Tumors|Syndrome, Wagenmann-Froboese|Wagenmann Froboese Syndrome|Wagenmann-Froboese Syndrome Cancer|Endocrine system disease|Genetic disease (inborn) Multiple Endocrine Neoplasia, Type IV MESH:C567059 DO:DOID:0080137|OMIM:610755 MESH:D009377 C04.588.322.400/C567059|C04.651.600/C567059|C04.700.630/C567059|C16.320.700.630/C567059|C19.344.400/C567059 C04.588.322.400|C04.651.600|C04.700.630|C16.320.700.630|C19.344.400 MEN4 Cancer|Endocrine system disease|Genetic disease (inborn) Multiple Epiphyseal Dysplasia with Robin Phenotype MESH:C563291 MESH:D002972|MESH:D008844|MESH:D010009|MESH:D017880 C05.116.099.708/C563291|C05.500.460.185/C563291|C05.500.460.457/C563291|C05.660.207.540.460.185/C563291|C05.660.207.540.460.457/C563291|C05.660.585/C563291|C07.320.440.185/C563291|C07.320.440.457/C563291|C07.465.525.185/C563291|C07.650.500.460.185/C563291|C07.650.500.460.457/C563291|C07.650.525.185/C563291|C16.131.621.207.540.460.185/C563291|C16.131.621.207.540.460.457/C563291|C16.131.621.585/C563291|C16.131.850.500.460.185/C563291|C16.131.850.500.460.457/C563291|C16.131.850.525.185/C563291|C16.320.728/C563291 C05.116.099.708|C05.500.460.185|C05.500.460.457|C05.660.207.540.460.185|C05.660.207.540.460.457|C05.660.585|C07.320.440.185|C07.320.440.457|C07.465.525.185|C07.650.500.460.185|C07.650.500.460.457|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.621.207.540.460.457|C16.131.621.585|C16.131.850.500.460.185|C16.131.850.500.460.457|C16.131.850.525.185|C16.320.728 Epiphyseal Dysplasia, Multiple, with Robin Phenotype Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Multiple Exostoses with Spastic Tetraparesis MESH:C563566 MESH:D005097|MESH:D020336 C04.557.450.565.575.610.615.325/C563566|C04.700.330/C563566|C05.116.099.708.670.615.325/C563566|C05.116.540.310.500/C563566|C10.597.636.500.500/C563566|C16.320.700.330/C563566|C23.888.592.643.500.500/C563566 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708.670.615.325|C05.116.540.310.500|C10.597.636.500.500|C16.320.700.330|C23.888.592.643.500.500 Cancer|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms MULTIPLE FIBROADENOMAS OF THE BREAST OMIM:615554 MESH:D001943|MESH:D018226 C04.557.450.565.590.595.350/615554|C04.557.470.625.350/615554|C04.588.180/615554|C17.800.090.500/615554 C04.557.450.565.590.595.350|C04.557.470.625.350|C04.588.180|C17.800.090.500 MFAB Cancer|Skin disease MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS OMIM:245600 DO:DOID:0080575 MESH:C537874|MESH:D006130|MESH:D006330|MESH:D019465 C05.116.099/C537874/245600|C05.550.518/C537874/245600|C05.660.207/245600|C05.660/C537874/245600|C14.240.400/245600|C14.280.400/245600|C16.131.077/C537874/245600|C16.131.240.400/245600|C16.131.621.207/245600|C16.131.621/C537874/245600|C23.550.393/245600|C26.289/C537874/245600 C05.116.099/C537874|C05.550.518/C537874|C05.660.207|C05.660/C537874|C14.240.400|C14.280.400|C16.131.077/C537874|C16.131.240.400|C16.131.621.207|C16.131.621/C537874|C23.550.393|C26.289/C537874 JDSCD|LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Pathology (process)|Wounds and injuries Multiple Mitochondrial Dysfunctions Syndrome MESH:C565304 DO:DOID:0070330|OMIM:605711|OMIM:615330|OMIM:616370 MESH:D028361 C18.452.660/C565304 C18.452.660 MMDS|MMDS1|MMDS3|MMDS4|MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1|MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3|MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 Metabolic disease MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA OMIM:614299 DO:DOID:0080134 MESH:C565304|MESH:D020158 C10.228.140.163.100.375/614299|C16.320.565.100.477/614299|C16.320.565.189.375/614299|C18.452.132.100.375/614299|C18.452.648.100.477/614299|C18.452.648.189.375/614299|C18.452.660/C565304/614299 C10.228.140.163.100.375|C16.320.565.100.477|C16.320.565.189.375|C18.452.132.100.375|C18.452.648.100.477|C18.452.648.189.375|C18.452.660/C565304 MMDS2 Genetic disease (inborn)|Metabolic disease|Nervous system disease Multiple Myeloma MESH:D009101 DO:DOID:9538|OMIM:254500 A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY. MESH:D008232|MESH:D010265|MESH:D020141|MESH:D054219 C04.557.595.500|C14.907.454.460|C15.378.147.780.650|C15.378.463.515.460|C20.683.515.845|C20.683.780.650 C04.557.595|C14.907.454|C15.378.147.780|C15.378.463.515|C20.683.515|C20.683.780 AL AMYLOIDOSIS, INCLUDED|AL, INCLUDED|AMYLOIDOSIS, SYSTEMIC, INCLUDED|Cell Myeloma, Plasma|Cell Myelomas, Plasma|Disease, Kahler|Kahler Disease|Multiple Myelomas|Myeloma Multiple|Myeloma, Multiple|Myeloma-Multiple|Myeloma-Multiples|Myeloma, Plasma Cell|Myeloma, Plasma-Cell|Myelomas, Multiple|Myelomas, Plasma Cell|Myelomas, Plasma-Cell|Myelomatoses|Myelomatosis|Plasma Cell Myeloma|Plasma-Cell Myeloma|Plasma Cell Myelomas|Plasma-Cell Myelomas Blood disease|Cancer|Cardiovascular disease|Immune system disease Multiple Organ Failure MESH:D009102 A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative. MESH:D012769 C23.550.835.525 C23.550.835 Failure, Multiple Organ|MODS|Multiple Organ Dysfunction Syndrome|Multiple Organ Failures|Organ Dysfunction Syndrome, Multiple|Organ Failure, Multiple Pathology (process) Multiple pterygium syndrome MESH:C537377 DO:DOID:0080110|OMIM:265000 MESH:D000015|MESH:D008305|MESH:D012868 C16.131.077/C537377|C16.131.831/C537377|C17.800.804/C537377|C23.550.505.700/C537377|C23.550.767.600/C537377|C23.888.119.455.500/C537377 C16.131.077|C16.131.831|C17.800.804|C23.550.505.700|C23.550.767.600|C23.888.119.455.500 Escobar syndrome|EVMPS|Familial Pterygium Syndrome|Lethal multiple pterygium syndrome|MULTIPLE PTERYGIUM SYNDROME|Multiple Pterygium Syndrome, Escobar Variant|Multiple pterygium syndrome lethal type|Multiple Pterygium Syndrome, Lethal Type|Multiple Pterygium Syndrome, Nonlethal Type|Pterygium colli syndrome|Pterygium Multiple syndrome, lethal type|Pterygium syndrome|Pterygium syndrome, multiple|Pterygium Syndrome, Multiple, Lethal Type|Pterygium universale Congenital abnormality|Pathology (process)|Signs and symptoms|Skin disease Multiple Pterygium Syndrome, Autosomal Dominant MESH:C566739 OMIM:178110 MESH:D001176 C05.550.150/C566739|C05.651.102/C566739|C05.660.077/C566739|C16.131.621.077/C566739 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Arthrogryposis, Distal, Type 8|ARTHROGRYPOSIS, DISTAL, TYPE 8, FORMERLY|AUTOSOMAL DOMINANT|CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A|CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1A|CPSFS1A|CPSKF1A|DA8, FORMERLY|MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT|PTERYGIUM SYNDROME, MULTIPLE|Pterygium Syndrome, Multiple, Autosomal Dominant Congenital abnormality|Musculoskeletal disease MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE OMIM:253290 DO:DOID:0080110 MESH:C537377|MESH:D001176|MESH:D005315 C05.550.150/253290|C05.651.102/253290|C05.660.077/253290|C12.050.703.277/253290|C16.131.077/C537377/253290|C16.131.621.077/253290|C16.131.831/C537377/253290|C16.300/253290|C17.800.804/C537377/253290|C23.550.505.700/C537377/253290|C23.550.767.600/C537377/253290|C23.888.119.455.500/C537377/253290 C05.550.150|C05.651.102|C05.660.077|C12.050.703.277|C16.131.077/C537377|C16.131.621.077|C16.131.831/C537377|C16.300|C17.800.804/C537377|C23.550.505.700/C537377|C23.550.767.600/C537377|C23.888.119.455.500/C537377 LMPS|PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE Congenital abnormality|Fetal disease|Musculoskeletal disease|Pathology (process)|Pregnancy complication|Signs and symptoms|Skin disease Multiple Pterygium Syndrome, X-Linked MESH:C564072 MESH:D003286|MESH:D017880|MESH:D019066|MESH:D040181 C05.550.323/C564072|C05.651.197/C564072|C05.660.585/C564072|C16.131.621.585/C564072|C16.320.322/C564072|C23.550.291.812/C564072 C05.550.323|C05.651.197|C05.660.585|C16.131.621.585|C16.320.322|C23.550.291.812 Pterygium Syndrome, Multiple, X-Linked Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Multiple Pulmonary Nodules MESH:D055613 A number of small lung lesions characterized by small round masses of 2- to 3-mm in diameter. They are usually detected by chest CT scans (COMPUTED TOMOGRAPHY, X-RAY). Such nodules can be associated with metastases of malignancies inside or outside the lung, benign granulomas, or other lesions. MESH:D008175 C04.588.894.797.520.237|C08.381.540.148|C08.785.520.148 C04.588.894.797.520|C08.381.540|C08.785.520 Multiple Pulmonary Nodule|Pulmonary Nodule, Multiple|Pulmonary Nodules, Multiple Cancer|Respiratory tract disease Multiple Sclerosis MESH:D009103 DO:DOID:2377|OMIM:126200|OMIM:612594|OMIM:612595|OMIM:612596|OMIM:614810 An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903) MESH:D020278 C10.114.375.500|C10.314.350.500|C20.111.258.250.500 C10.114.375|C10.314.350|C20.111.258.250 Disseminated Sclerosis|DISSEMINATED SCLEROSIS MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1, INCLUDED|MS|MS1, INCLUDED|MS2|MS3|MS4|MS5|MS (Multiple Sclerosis)|Multiple Sclerosis, Acute Fulminating|MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO|MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2|MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3|MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4|MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5|Sclerosis, Disseminated|Sclerosis, Multiple Immune system disease|Nervous system disease Multiple Sclerosis, Chronic Progressive MESH:D020528 DO:DOID:0050783|DO:DOID:0050784|DO:DOID:0050785 A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) MESH:D002908|MESH:D009103 C10.114.375.500.200|C10.314.350.500.200|C20.111.258.250.500.200|C23.550.291.500.625 C10.114.375.500|C10.314.350.500|C20.111.258.250.500|C23.550.291.500 Chronic Progressive Multiple Sclerosis|Multiple Sclerosis, Primary Progressive|Multiple Sclerosis, Progressive Relapsing|Multiple Sclerosis, Remittent Progressive|Multiple Sclerosis, Secondary Progressive|Primary Progressive Multiple Sclerosis|Progressive Relapsing Multiple Sclerosis|Remittent Progressive Multiple Sclerosis|Secondary Progressive Multiple Sclerosis Immune system disease|Nervous system disease|Pathology (process) Multiple Sclerosis, Relapsing-Remitting MESH:D020529 DO:DOID:2378 The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914) MESH:D009103 C10.114.375.500.600|C10.314.350.500.600|C20.111.258.250.500.600 C10.114.375.500|C10.314.350.500|C20.111.258.250.500 Acute Relapsing Multiple Sclerosis|Multiple Sclerosis, Acute Relapsing|Multiple Sclerosis, Relapsing Remitting|Multiple Sclerosis, Remitting-Relapsing|Relapsing Remitting Multiple Sclerosis|Relapsing-Remitting Multiple Sclerosis|Remitting Relapsing Multiple Sclerosis|Remitting-Relapsing Multiple Sclerosis Immune system disease|Nervous system disease Multiple Sulfatase Deficiency Disease MESH:D052517 DO:DOID:0050441|OMIM:272200 An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid. MESH:D052516 C10.228.140.163.100.435.825.850.750|C16.320.565.189.435.825.850.750|C16.320.565.398.641.803.925.750|C16.320.565.595.554.825.850.750|C18.452.132.100.435.825.850.750|C18.452.584.563.641.803.925.750|C18.452.648.189.435.825.850.750|C18.452.648.398.641.803.925.750|C18.452.648.595.554.825.850.750 C10.228.140.163.100.435.825.850|C16.320.565.189.435.825.850|C16.320.565.398.641.803.925|C16.320.565.595.554.825.850|C18.452.132.100.435.825.850|C18.452.584.563.641.803.925|C18.452.648.189.435.825.850|C18.452.648.398.641.803.925|C18.452.648.595.554.825.850 Juvenile Sulfatidoses|Juvenile Sulfatidosis|MSD|Mucosulfatidosis|Multiple Sulfatase Deficiencies|Multiple Sulfatase Deficiency|Multiple Sulphatase Deficiency Disease|Sulfatidoses, Juvenile|Sulfatidosis, Juvenile|Sulfatidosis Juvenile, Austin Type|Sulfatidosis, Juvenile, Austin Type Genetic disease (inborn)|Metabolic disease|Nervous system disease MULTIPLE SYNOSTOSES SYNDROME 1 OMIM:186500 DO:DOID:0081317 MESH:C566099|MESH:D003638|MESH:D013580|MESH:D059327 C05.116.099.370.894/186500|C05.330.495/C566099/186500|C05.390.408/C566099/186500|C05.550.069/C566099/186500|C05.660.585.262/186500|C05.660.585.512.380/C566099/186500|C05.660.585.988.425/C566099/186500|C05.660.906/186500|C09.218.458.341.186/186500|C10.597.751.418.341.186/186500|C16.131.621.585.262/186500|C16.131.621.585.512.500/C566099/186500|C16.131.621.585.988.500/C566099/186500|C16.131.621.906/186500|C23.888.592.763.393.341.186/186500 C05.116.099.370.894|C05.330.495/C566099|C05.390.408/C566099|C05.550.069/C566099|C05.660.585.262|C05.660.585.512.380/C566099|C05.660.585.988.425/C566099|C05.660.906|C09.218.458.341.186|C10.597.751.418.341.186|C16.131.621.585.262|C16.131.621.585.512.500/C566099|C16.131.621.585.988.500/C566099|C16.131.621.906|C23.888.592.763.393.341.186 DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN|FACIOAUDIOSYMPHALANGISM SYNDROME|SYMPHALANGISM-BRACHYDACTYLY SYNDROME|SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY|SYNS1|WL SYNDROME Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Multiple synostoses syndrome 2 MESH:C537380 OMIM:610017 MESH:D013580 C05.116.099.370.894/C537380|C05.660.906/C537380|C16.131.621.906/C537380 C05.116.099.370.894|C05.660.906|C16.131.621.906 SYNS2 Congenital abnormality|Musculoskeletal disease Multiple Synostoses Syndrome 3 MESH:C567839 OMIM:612961 MESH:D013580 C05.116.099.370.894/C567839|C05.660.906/C567839|C16.131.621.906/C567839 C05.116.099.370.894|C05.660.906|C16.131.621.906 SYNS3 Congenital abnormality|Musculoskeletal disease Multiple System Atrophy MESH:D019578 DO:DOID:4752|OMIM:146500 A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92) MESH:D000080874|MESH:D001480|MESH:D009069|MESH:D054969 C10.177.575.550|C10.228.140.079.612|C10.228.662.550|C10.574.928.625 C10.177.575|C10.228.140.079|C10.228.662|C10.574.928 Atrophies, Multisystem|Atrophies, Multisystemic|Atrophy, Multiple System|Atrophy, Multisystem|Atrophy, Multisystemic|HYPOTENSION, ORTHOSTATIC, INCLUDED|MSA1|MSA1, SUSCEPTIBILITY TO AUTONOMIC FAILURE, PURE, INCLUDED|Multiple System Atrophies|MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO|Multiple System Atrophy Syndrome|Multisystem Atrophies|Multisystem Atrophy|Multisystemic Atrophies|Multisystemic Atrophy Nervous system disease Multiple system atrophy (MSA) with orthostatic hypotension MESH:C537381 MESH:D019578 C10.177.575.550/C537381|C10.228.140.079.612/C537381|C10.228.662.550/C537381|C10.574.928.625/C537381 C10.177.575.550|C10.228.140.079.612|C10.228.662.550|C10.574.928.625 Nervous system disease Multiple Trauma MESH:D009104 Multiple physical insults or injuries occurring simultaneously. MESH:D014947 C26.640 C26 Injuries, Multiple|Injury, Multiple|Multiple Injuries|Multiple Injury|Multiple Traumas|Multiple Wound|Multiple Wounds|Polytrauma|Polytraumas|Trauma, Multiple|Traumas, Multiple|Wound, Multiple|Wounds, Multiple Wounds and injuries Mumps MESH:D009107 DO:DOID:10264 An acute infectious disease caused by RUBULAVIRUS, spread by direct contact, airborne droplet nuclei, fomites contaminated by infectious saliva, and perhaps urine, and usually seen in children under the age of 15, although adults may also be affected. (From Dorland, 28th ed) MESH:D010309|MESH:D019351 C01.925.782.580.600.680.500|C07.465.815.470.800.630 C01.925.782.580.600.680|C07.465.815.470.800 Epidemic Parotitides|Epidemic Parotitis|Parotitides, Epidemic|Parotitis, Epidemic Mouth disease|Viral disease Munchausen Syndrome MESH:D009110 A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false. MESH:D005162 F03.875.375.600 F03.875.375 Hospital Addiction Syndrome|Hospital-Addiction Syndrome|Hospital-Addiction Syndromes|Munchhausen Syndrome|Syndrome, Hospital Addiction|Syndrome, Hospital-Addiction|Syndrome, Munchausen|Syndrome, Munchhausen|Syndromes, Hospital-Addiction Mental disorder Munchausen Syndrome by Proxy MESH:D016735 A phenomenon in which symptoms of a disease are fabricated by an individual other than the patient causing unnecessary, and often painful, physical examinations and treatments. This syndrome is considered a form of CHILD ABUSE, since another individual, usually a parent, is the source of the fabrication of symptoms and presents the child for medical care. MESH:D005162 F03.875.375.800 F03.875.375 Mental disorder Mungan Syndrome MESH:C548078 OMIM:611376 MESH:D001471|MESH:D007418 C04.834.154/C548078|C06.405.117.102/C548078|C06.405.469.531.492.500/C548078 C04.834.154|C06.405.117.102|C06.405.469.531.492.500 MGS|Pseudoobstruction, Chronic Idiopathic Intestinal, With Barrett Esophagus And Cardiac Abnormalities|Visceral Neuromyopathy, Familial, With Pseudoobstruction, Megaduodenum, Barrett Esophagus, And Cardiac Abnormalities Cancer|Digestive system disease Murine Acquired Immunodeficiency Syndrome MESH:D016183 Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (MuLV). The syndrome shows striking similarities with human AIDS and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas. MESH:D012192|MESH:D012376|MESH:D014412 C01.925.782.815.650|C01.925.928.650|C22.795.650 C01.925.782.815|C01.925.928|C22.795 AIDS, Murine|AIDSs, Murine|MAIDS|Murine Acquired Immune Deficiency Syndrome|Murine Acquired Immuno Deficiency Syndrome|Murine Acquired Immuno-Deficiency Syndrome|Murine AIDS|Murine AIDSs Animal disease|Viral disease Muscle Cramp MESH:D009120 A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398) MESH:D009135|MESH:D020879 C05.651.475|C10.597.613.500|C23.888.592.608.500 C05.651|C10.597.613|C23.888.592.608 Cramp|Cramp, Limb|Cramp, Muscle|Cramp, Muscular|Cramps|Cramps, Limb|Cramps, Muscle|Cramps, Muscular|Limb Cramp|Limb Cramps|Muscle Cramps|Muscular Cramp|Muscular Cramps Musculoskeletal disease|Nervous system disease|Signs and symptoms Muscle Cramps, Familial MESH:C563563 MESH:D009120 C05.651.475/C563563|C10.597.613.500/C563563|C23.888.592.608.500/C563563 C05.651.475|C10.597.613.500|C23.888.592.608.500 Musculoskeletal disease|Nervous system disease|Signs and symptoms Muscle Hypertonia MESH:D009122 Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES. MESH:D020879 C10.597.613.550|C23.888.592.608.550 C10.597.613|C23.888.592.608 Detrusor Muscle Hypertonia|Detrusor Muscle Hypertonias|Hypermyotonia|Hypermyotonias|Hypertonia, Detrusor Muscle|Hypertonia, Infantile|Hypertonia, Muscle|Hypertonia, Neonatal|Hypertonias, Detrusor Muscle|Hypertonias, Infantile|Hypertonias, Muscle|Hypertonias, Neonatal|Hypertonia, Sphincter|Hypertonias, Sphincter|Hypertonias, Transient|Hypertonia, Transient|Hypertonicities, Muscular|Hypertonicity, Muscular|Increased, Muscle Tone|Infantile Hypertonia|Infantile Hypertonias|Muscle Hypertonia, Detrusor|Muscle Hypertonias|Muscle Hypertonias, Detrusor|Muscle Tone Increased|Muscular Hypertonicities|Muscular Hypertonicity|Neonatal Hypertonia|Neonatal Hypertonias|Sphincter Hypertonia|Sphincter Hypertonias|Tone Increased, Muscle|Transient Hypertonia|Transient Hypertonias Nervous system disease|Signs and symptoms MUSCLE HYPERTROPHY OMIM:614160 DO:DOID:0111072 MESH:D006984|MESH:D009135 C05.651/614160|C10.668.491/614160|C23.300.775/614160 C05.651|C10.668.491|C23.300.775 MSLHP Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Muscle Hypotonia MESH:D009123 A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching. MESH:D020879 C10.597.613.575|C23.888.592.608.575 C10.597.613|C23.888.592.608 Decreased Muscle Tone|Flaccidity, Muscle|Flaccidity, Muscular|Flaccid Muscle Tone|Floppy Muscle|Floppy Muscles|Hypomyotonia|Hypotonia|Hypotonia, Muscle|Hypotonia, Muscular|Hypotonia, Neonatal|Hypotonias, Neonatal|Hypotonias, Unilateral|Hypotonia, Unilateral|Hypotony, Muscle|Muscle Flaccidity|Muscle, Floppy|Muscle Hypotony|Muscles, Floppy|Muscle Tone Atonic|Muscle Tone Atonics|Muscle Tone, Decreased|Muscle Tone, Flaccid|Muscle Tone Poor|Muscular Flaccidities|Muscular Flaccidity|Muscular Hypotonia|Neonatal Hypotonia|Neonatal Hypotonias|Tone Atonic, Muscle|Tone Poor, Muscle|Unilateral Hypotonia Nervous system disease|Signs and symptoms Muscle Neoplasms MESH:D019042 DO:DOID:4045|DO:DOID:461 Tumors or cancer located in muscle tissue or specific muscles. They are differentiated from NEOPLASMS, MUSCLE TISSUE which are neoplasms composed of skeletal, cardiac, or smooth muscle tissue, such as MYOSARCOMA or LEIOMYOMA. MESH:D009135|MESH:D012983 C04.588.839.500|C05.651.494 C04.588.839|C05.651 Cancer, Muscle|Cancer of Muscle|Cancer of the Muscle|Cancers, Muscle|Muscle Cancer|Muscle Cancers|Muscle Neoplasm|Neoplasm, Muscle|Neoplasms, Muscle Cancer|Musculoskeletal disease Muscle Rigidity MESH:D009127 Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from MUSCLE SPASTICITY. (From Adams et al., Principles of Neurology, 6th ed, p73) MESH:D009122|MESH:D009135 C05.651.504|C10.597.613.550.500|C23.888.592.608.550.500 C05.651|C10.597.613.550|C23.888.592.608.550 Catatonic Rigidity|Cogwheel Rigidities|Cogwheel Rigidity|Extensor Rigidity|Extrapyramidal Rigidity|Gegenhalten|Gegenhaltens|Muscular Rigidity|Nuchal Rigidity|Rigidities, Cogwheel|Rigidity, Catatonic|Rigidity, Cogwheel|Rigidity, Extensor|Rigidity, Extrapyramidal|Rigidity, Muscle|Rigidity, Muscular|Rigidity, Nuchal Musculoskeletal disease|Nervous system disease|Signs and symptoms Muscle Spasticity MESH:D009128 A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a 'free interval') followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54) MESH:D009122|MESH:D009135 C05.651.512|C10.597.613.550.550|C23.888.592.608.550.550 C05.651|C10.597.613.550|C23.888.592.608.550 Clasp Knife Spasticity|Clasp-Knife Spasticity|Spastic|Spasticity, Clasp-Knife|Spasticity, Muscle Musculoskeletal disease|Nervous system disease|Signs and symptoms Muscle Weakness MESH:D018908 A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251) MESH:D009135|MESH:D010335|MESH:D020879 C05.651.515|C10.597.613.593|C23.550.695|C23.888.592.608.593 C05.651|C10.597.613|C23.550|C23.888.592.608 Muscle Weaknesses|Muscular Weakness|Muscular Weaknesses|Weaknesses, Muscle|Weaknesses, Muscular|Weakness, Muscle|Weakness, Muscular Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Muscular Atrophy MESH:D009133 DO:DOID:767 Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. MESH:D001284|MESH:D020879 C10.597.613.612|C23.300.070.500|C23.888.592.608.612 C10.597.613|C23.300.070|C23.888.592.608 Atrophies, Muscle|Atrophies, Muscular|Atrophies, Neurogenic Muscular|Atrophies, Neurotrophic Muscular|Atrophy, Muscle|Atrophy, Muscular|Atrophy, Neurogenic Muscular|Atrophy, Neurotrophic Muscular|Muscle Atrophies|Muscle Atrophy|Muscular Atrophies|Muscular Atrophies, Neurogenic|Muscular Atrophies, Neurotrophic|Muscular Atrophy, Neurogenic|Muscular Atrophy, Neurotrophic|Neurogenic Muscular Atrophies|Neurogenic Muscular Atrophy|Neurotrophic Muscular Atrophies|Neurotrophic Muscular Atrophy Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus MESH:C562774 MESH:D001259|MESH:D003920|MESH:D009133|MESH:D012174 C10.597.350.090/C562774|C10.597.613.612/C562774|C11.270.684/C562774|C11.768.585.658.500/C562774|C16.320.290.684/C562774|C18.452.394.750/C562774|C19.246/C562774|C23.300.070.500/C562774|C23.888.592.350.090/C562774|C23.888.592.608.612/C562774 C10.597.350.090|C10.597.613.612|C11.270.684|C11.768.585.658.500|C16.320.290.684|C18.452.394.750|C19.246|C23.300.070.500|C23.888.592.350.090|C23.888.592.608.612 Endocrine system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Muscular Atrophy, Malignant Neurogenic MESH:C563559 MESH:D009133 C10.597.613.612/C563559|C23.300.070.500/C563559|C23.888.592.608.612/C563559 C10.597.613.612|C23.300.070.500|C23.888.592.608.612 Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Muscular Atrophy, Spinal MESH:D009134 DO:DOID:0111552|DO:DOID:12377|DO:DOID:318 A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089) MESH:D013118|MESH:D016472 C10.228.854.468|C10.574.562.500|C10.668.467.500 C10.228.854|C10.574.562|C10.668.467 Adult Onset Spinal Muscular Atrophy|Adult-Onset Spinal Muscular Atrophy|Adult Spinal Muscular Atrophy|Amyotrophies, Spinal|Amyotrophy, Neurogenic Scapuloperoneal, New England Type|Amyotrophy, Spinal|Atrophies, Progressive Muscular|Atrophy, Myelopathic Muscular|Atrophy, Progressive Muscular|Atrophy, Spinal Muscular|Bulbospinal Neuronopathies|Bulbospinal Neuronopathy|Distal Spinal Muscular Atrophy|Hereditary Motor Neuronopathies|Hereditary Motor Neuronopathy|Motor Neuronopathies, Hereditary|Motor Neuronopathy, Hereditary|Muscular Atrophies, Progressive|Muscular Atrophy, Adult Spinal|Muscular Atrophy, Myelopathic|Muscular Atrophy, Progressive|Myelopathic Muscular Atrophy|Myelopathic Muscular Atrophy, Progressive|Neuronopathies, Bulbospinal|Neuronopathies, Hereditary Motor|Neuronopathy, Bulbospinal|Neuronopathy, Hereditary Motor|Oculopharyngeal Spinal Muscular Atrophy|Progressive Muscular Atrophies|Progressive Muscular Atrophy|Progressive Myelopathic Muscular Atrophy|Progressive Proximal Myelopathic Muscular Atrophy|Proximal Myelopathic Muscular Atrophy, Progressive|Scapuloperoneal Form of Spinal Muscular Atrophy|Scapuloperoneal Spinal Muscular Atrophy|Spinal Amyotrophies|Spinal Amyotrophy|Spinal Muscular Atrophy|Spinal Muscular Atrophy, Distal|Spinal Muscular Atrophy, Oculopharyngeal|Spinal Muscular Atrophy, Scapuloperoneal|Spinal Muscular Atrophy, Scapuloperoneal Form Nervous system disease Muscular Diseases MESH:D009135 DO:DOID:423 Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. MESH:D009140|MESH:D009468 C05.651|C10.668.491 C05|C10.668 Muscle Disorder|Muscle Disorders|Muscular Disease|Myopathic Condition|Myopathic Conditions|Myopathies|Myopathy Musculoskeletal disease|Nervous system disease Muscular Disorders, Atrophic MESH:D020966 DO:DOID:913 Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL). MESH:D009135 C05.651.534|C10.668.491.175 C05.651|C10.668.491 Atrophic Muscular Disorder|Atrophic Muscular Disorders|Atrophies, Disuse|Atrophies, Spinopontine|Atrophy, Disuse|Atrophy, Spinopontine|Disorder, Atrophic Muscular|Disorders, Atrophic Muscular|Disuse Atrophies|Disuse Atrophy|Muscular Disorder, Atrophic|Spinopontine Atrophies|Spinopontine Atrophy Musculoskeletal disease|Nervous system disease Muscular Dystrophies MESH:D009136 DO:DOID:9884 A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. MESH:D020966|MESH:D030342 C05.651.534.500|C10.668.491.175.500|C16.320.577 C05.651.534|C10.668.491.175|C16.320 Dystrophies, Muscular|Dystrophy, Muscular|Muscular Dystrophy|Myodystrophica|Myodystrophicas|Myodystrophies|Myodystrophy Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophies, Limb-Girdle MESH:D049288 DO:DOID:11724 A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles). MESH:D009136 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 C05.651.534.500|C10.668.491.175.500|C16.320.577 Limb Girdle Muscular Dystrophies|Limb-Girdle Muscular Dystrophies|Limb Girdle Muscular Dystrophy|Limb-Girdle Muscular Dystrophy|Limb-Girdle Syndrome|Muscular Dystrophies, Limb Girdle|Muscular Dystrophy, Limb Girdle|Muscular Dystrophy, Limb-Girdle|Myopathic Limb-Girdle Syndrome Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy MESH:C565361 MESH:D009136|MESH:D056784 C05.651.534.500/C565361|C10.228.140.695/C565361|C10.668.491.175.500/C565361|C16.320.577/C565361 C05.651.534.500|C10.228.140.695|C10.668.491.175.500|C16.320.577 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Animal MESH:D009137 MUSCULAR DYSTROPHY that occurs in VERTEBRATE animals. MESH:D000820 C22.595 C22 Animal Muscular Dystrophies|Animal Muscular Dystrophy|Dystrophies, Animal Muscular|Dystrophy, Animal Muscular|Muscular Dystrophies, Animal Animal disease MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE OMIM:616827 DO:DOID:0110288 MESH:D049288 C05.651.534.500.280/616827|C10.668.491.175.500.149/616827|C16.320.577.280/616827 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2W|MDRCMTT|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Barnes Type MESH:C563558 MESH:D009136 C05.651.534.500/C563558|C10.668.491.175.500/C563558|C16.320.577/C563558 C05.651.534.500|C10.668.491.175.500|C16.320.577 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Cardiac Type MESH:C563247 MESH:D009136|MESH:D009202 C05.651.534.500/C563247|C10.668.491.175.500/C563247|C14.280.238/C563247|C16.320.577/C563247 C05.651.534.500|C10.668.491.175.500|C14.280.238|C16.320.577 Cardiovascular disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, 1B MESH:C565748 OMIM:604801 MESH:D009136 C05.651.534.500/C565748|C10.668.491.175.500/C565748|C16.320.577/C565748 C05.651.534.500|C10.668.491.175.500|C16.320.577 MDC1B Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, 1C MESH:C564691 MESH:D009136 C05.651.534.500/C564691|C10.668.491.175.500/C564691|C16.320.577/C564691 C05.651.534.500|C10.668.491.175.500|C16.320.577 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation MESH:C565506 MESH:D008607|MESH:D008831|MESH:D009136 C05.651.534.500/C565506|C05.660.207.620/C565506|C10.500.507.400.500/C565506|C10.597.606.360/C565506|C10.668.491.175.500/C565506|C16.131.621.207.620/C565506|C16.131.666.507.400.500/C565506|C16.320.577/C565506|C23.888.592.604.646/C565506|F03.625.539/C565506 C05.651.534.500|C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C10.668.491.175.500|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.577|C23.888.592.604.646|F03.625.539 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE OMIM:617066 MESH:D049288 C05.651.534.500.280/617066|C10.668.491.175.500.149/617066|C16.320.577.280/617066 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 MDCDC Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency MESH:C567709 OMIM:613204 MESH:D009136 C05.651.534.500/C567709|C10.668.491.175.500/C567709|C16.320.577/C567709 C05.651.534.500|C10.668.491.175.500|C16.320.577 Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency MESH:C564317 MESH:D009136 C05.651.534.500/C564317|C10.668.491.175.500/C564317|C16.320.577/C564317 C05.651.534.500|C10.668.491.175.500|C16.320.577 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular dystrophy, congenital, infantile with cataract and hypogonadism MESH:C537385 MESH:D002386|MESH:D007006|MESH:D009136 C05.651.534.500/C537385|C10.668.491.175.500/C537385|C11.510.245/C537385|C16.320.577/C537385|C19.391.482/C537385 C05.651.534.500|C10.668.491.175.500|C11.510.245|C16.320.577|C19.391.482 Familial congenital muscular dystrophy with gonadal dysgenesis|Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, Lmna-Related MESH:C567708 OMIM:613205 MESH:D009136 C05.651.534.500/C567708|C10.668.491.175.500/C567708|C16.320.577/C567708 C05.651.534.500|C10.668.491.175.500|C16.320.577 Mdcl Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, Megaconial Type MESH:C566527 OMIM:602541 MESH:D009136 C05.651.534.500/C566527|C10.668.491.175.500/C566527|C16.320.577/C566527 C05.651.534.500|C10.668.491.175.500|C16.320.577 MDCMC|MUSCULAR DYSTROPHY, CONGENITAL, WITH MITOCHONDRIAL STRUCTURAL ABNORMALITIES Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular dystrophy congenital, merosin negative MESH:C537384 DO:DOID:0110636|OMIM:607855 MESH:D009136 C05.651.534.500/C537384|C10.668.491.175.500/C537384|C16.320.577/C537384 C05.651.534.500|C10.668.491.175.500|C16.320.577 MDC1A|Merosin-deficient congenital muscular dystrophy|Merosin-negative congenital muscular dystrophy|Muscular Dystrophy, Congenital Merosin-Deficient|Muscular dystrophy, congenital, merosin-deficient 1A|Muscular Dystrophy, Congenital Merosin-Deficient, 1A|MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, INCLUDED Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, Merosin-Positive MESH:C563716 MESH:D009136 C05.651.534.500/C563716|C10.668.491.175.500/C563716|C16.320.577/C563716 C05.651.534.500|C10.668.491.175.500|C16.320.577 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, plus Mental Retardation MESH:C565505 MESH:D008607|MESH:D009136 C05.651.534.500/C565505|C10.597.606.360/C565505|C10.668.491.175.500/C565505|C16.320.577/C565505|C23.888.592.604.646/C565505|F03.625.539/C565505 C05.651.534.500|C10.597.606.360|C10.668.491.175.500|C16.320.577|C23.888.592.604.646|F03.625.539 Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Muscular Dystrophy, Congenital, Producing Arthrogryposis MESH:C564985 MESH:D001176|MESH:D009136 C05.550.150/C564985|C05.651.102/C564985|C05.651.534.500/C564985|C05.660.077/C564985|C10.668.491.175.500/C564985|C16.131.621.077/C564985|C16.320.577/C564985 C05.550.150|C05.651.102|C05.651.534.500|C05.660.077|C10.668.491.175.500|C16.131.621.077|C16.320.577 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, Type 1D MESH:C563844 MESH:D008607|MESH:D009136 C05.651.534.500/C563844|C10.597.606.360/C563844|C10.668.491.175.500/C563844|C16.320.577/C563844|C23.888.592.604.646/C563844|F03.625.539/C563844 C05.651.534.500|C10.597.606.360|C10.668.491.175.500|C16.320.577|C23.888.592.604.646|F03.625.539 Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY OMIM:617404 DO:DOID:0080197 MESH:D002386|MESH:D008607|MESH:D049288 C05.651.534.500.280/617404|C10.597.606.360/617404|C10.668.491.175.500.149/617404|C11.510.245/617404|C16.320.577.280/617404|C23.888.592.604.646/617404|F03.625.539/617404 C05.651.534.500.280|C10.597.606.360|C10.668.491.175.500.149|C11.510.245|C16.320.577.280|C23.888.592.604.646|F03.625.539 MDCCAID Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Muscular dystrophy, congenital, with central nervous system involvement MESH:C538190 MESH:D058494 C10.500.507.450.499.249.500/C538190|C11.270.881/C538190|C16.131.666.507.450.499.249.500/C538190|C16.320.577.750/C538190 C10.500.507.450.499.249.500|C11.270.881|C16.131.666.507.450.499.249.500|C16.320.577.750 Muscular dystrophy, congenital progressive, with mental retardation Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Muscular Dystrophy, Congenital, With Cerebellar Atrophy MESH:C566392 MESH:D009136 C05.651.534.500/C566392|C10.668.491.175.500/C566392|C16.320.577/C566392 C05.651.534.500|C10.668.491.175.500|C16.320.577 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, with Rapid Progression MESH:C564983 MESH:D009136 C05.651.534.500/C564983|C10.668.491.175.500/C564983|C16.320.577/C564983 C05.651.534.500|C10.668.491.175.500|C16.320.577 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers MESH:C563378 MESH:D009136|MESH:D020271 C05.651.534.500/C563378|C10.574.500/C563378|C10.668.491.175.500/C563378|C16.320.400/C563378|C16.320.577/C563378 C05.651.534.500|C10.574.500|C10.668.491.175.500|C16.320.400|C16.320.577 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Duchenne MESH:D020388 DO:DOID:11723|OMIM:300376|OMIM:310200 An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415) MESH:D009136|MESH:D040181 C05.651.534.500.300|C10.668.491.175.500.300|C16.320.322.562|C16.320.577.300 C05.651.534.500|C10.668.491.175.500|C16.320.322|C16.320.577 Becker Muscular Dystrophy|Becker's Muscular Dystrophy|BMD|Cardiomyopathy, Dilated, 3B|Cardiomyopathy, Dilated, X-Linked|Childhood Muscular Dystrophy, Pseudohypertrophic|Childhood Pseudohypertrophic Muscular Dystrophy|DMD|Duchenne and Becker Muscular Dystrophy|Duchenne Becker Muscular Dystrophy|Duchenne-Becker Muscular Dystrophy|Duchenne Muscular Dystrophy|Duchenne Type Progressive Muscular Dystrophy|Duchenne-Type Progressive Muscular Dystrophy|Muscular Dystrophy, Becker|Muscular Dystrophy, Becker's|Muscular Dystrophy, Becker Type|Muscular Dystrophy, Childhood, Pseudohypertrophic|Muscular Dystrophy, Duchenne and Becker Types|Muscular Dystrophy, Duchenne-Becker|Muscular Dystrophy, Duchenne Type|Muscular Dystrophy, Pseudohypertrophic|Muscular Dystrophy, Pseudohypertrophic, Childhood|Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type|Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type|Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type|Progressive Muscular Dystrophy, Duchenne Type|Pseudohypertrophic Childhood Muscular Dystrophy|Pseudohypertrophic Muscular Dystrophy|Pseudohypertrophic Muscular Dystrophy, Childhood Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 OMIM:613155 DO:DOID:0050588 MESH:D008607|MESH:D009136 C05.651.534.500/613155|C10.597.606.360/613155|C10.668.491.175.500/613155|C16.320.577/613155|C23.888.592.604.646/613155|F03.625.539/613155 C05.651.534.500|C10.597.606.360|C10.668.491.175.500|C16.320.577|C23.888.592.604.646|F03.625.539 MDDGB1|MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 OMIM:615351 DO:DOID:0112377 MESH:D008607|MESH:D049288 C05.651.534.500.280/615351|C10.597.606.360/615351|C10.668.491.175.500.149/615351|C16.320.577.280/615351|C23.888.592.604.646/615351|F03.625.539/615351 C05.651.534.500.280|C10.597.606.360|C10.668.491.175.500.149|C16.320.577.280|C23.888.592.604.646|F03.625.539 MDDGB14|MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 OMIM:613156 DO:DOID:0112380 MESH:D008607|MESH:D009136 C05.651.534.500/613156|C10.597.606.360/613156|C10.668.491.175.500/613156|C16.320.577/613156|C23.888.592.604.646/613156|F03.625.539/613156 C05.651.534.500|C10.597.606.360|C10.668.491.175.500|C16.320.577|C23.888.592.604.646|F03.625.539 MDDGB2|MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3 OMIM:613151 DO:DOID:0112378 MESH:D008607|MESH:D009136 C05.651.534.500/613151|C10.597.606.360/613151|C10.668.491.175.500/613151|C16.320.577/613151|C23.888.592.604.646/613151|F03.625.539/613151 C05.651.534.500|C10.597.606.360|C10.668.491.175.500|C16.320.577|C23.888.592.604.646|F03.625.539 MDDGB3|MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 OMIM:608840 DO:DOID:0110637 MESH:D008607|MESH:D009136 C05.651.534.500/608840|C10.597.606.360/608840|C10.668.491.175.500/608840|C16.320.577/608840|C23.888.592.604.646/608840|F03.625.539/608840 C05.651.534.500|C10.597.606.360|C10.668.491.175.500|C16.320.577|C23.888.592.604.646|F03.625.539 MDC1D|MDDGB6|MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED|MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 OMIM:606612 DO:DOID:0110635 MESH:D009136 C05.651.534.500/606612|C10.668.491.175.500/606612|C16.320.577/606612 C05.651.534.500|C10.668.491.175.500|C16.320.577 MDC1C|MDDGB5|MUSCULAR DYSTROPHY, CONGENITAL, 1C|MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 OMIM:613152 DO:DOID:0112379 MESH:D009136 C05.651.534.500/613152|C10.668.491.175.500/613152|C16.320.577/613152 C05.651.534.500|C10.668.491.175.500|C16.320.577 MDDGB4|MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 OMIM:609308 DO:DOID:0110297 MESH:D049288 C05.651.534.500.280/609308|C10.668.491.175.500.149/609308|C16.320.577.280/609308 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2K|LGMDR11|MDDGC1|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 OMIM:616094 DO:DOID:0112381 MESH:D049288 C05.651.534.500.280/616094|C10.668.491.175.500.149/616094|C16.320.577.280/616094 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 MDDGC12|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 OMIM:615352 DO:DOID:0110294 MESH:D049288 C05.651.534.500.280/615352|C10.668.491.175.500.149/615352|C16.320.577.280/615352 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2T|LGMDR19|MDDGC14|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 19|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2T Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 OMIM:613158 DO:DOID:0110298 MESH:D049288 C05.651.534.500.280/613158|C10.668.491.175.500.149/613158|C16.320.577.280/613158 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2N|LGMDR14|MDDGC2|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2N Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 OMIM:613157 DO:DOID:0110292 MESH:D049288 C05.651.534.500.280/613157|C10.668.491.175.500.149/613157|C16.320.577.280/613157 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2O|LGMDR15|MDDGC3|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2O Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 OMIM:611588 DO:DOID:0110296 MESH:D049288 C05.651.534.500.280/611588|C10.668.491.175.500.149/611588|C16.320.577.280/611588 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2M|LGMDR13|MDDGC4|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 13|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 OMIM:607155 DO:DOID:0110299 MESH:D049288 C05.651.534.500.280/607155|C10.668.491.175.500.149/607155|C16.320.577.280/607155 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2I|LGMDR9|MDDGC5|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 OMIM:616052 DO:DOID:0110295 MESH:D049288 C05.651.534.500.280/616052|C10.668.491.175.500.149/616052|C16.320.577.280/616052 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2U|LGMDR20|MDDGC7|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 20|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 OMIM:613818 DO:DOID:0110293 MESH:D049288 C05.651.534.500.280/613818|C10.668.491.175.500.149/613818|C16.320.577.280/613818 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2P|LGMDR16|MDDGC9|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 16|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Emery-Dreifuss MESH:D020389 DO:DOID:11726|OMIM:181350|OMIM:310300|OMIM:612998|OMIM:612999|OMIM:614302|OMIM:616516 A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations. MESH:D009136|MESH:D040181 C05.651.534.500.350|C10.668.491.175.500.350|C16.320.322.625|C16.320.577.350 C05.651.534.500|C10.668.491.175.500|C16.320.322|C16.320.577 Autosomal Recessive Emery Dreifuss Muscular Dystrophy|Autosomal Recessive Emery-Dreifuss Muscular Dystrophy|CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY|EDMD1|EDMD2|EDMD3|EDMD4|EDMD5|EDMD7|EMD1|EMD2|Emery Dreifuss Muscular Dystrophy|Emery-Dreifuss Muscular Dystrophy|EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED|EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT|EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE|EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT|EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES|EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT|EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT|EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT|Emery Dreifuss Muscular Dystrophy, Autosomal Recessive|Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive|Emery Dreifuss Syndrome|Emery-Dreifuss Syndrome|Emery-Dreifuss Type Muscular Dystrophy|HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY|HUMEROPERONEAL NEUROMUSCULAR DISEASE, FORMERLY|LGMD1B, FORMERLY|Muscular Dystrophy, Emery Dreifuss|Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive|Muscular Dystrophy, Emery-Dreifuss Type|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, FORMERLY|MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B, FORMERLY|Muscular Dystrophy, Scapuloperoneal|MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES|MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT|MYH7-Related Scapuloperoneal Myopathy|Myopathy, MYH7-Related Scapuloperoneal|SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY|Scapuloperoneal Muscular Dystrophy|Scapuloperoneal Myopathy, MYH7 Related|Scapuloperoneal Myopathy, MYH7-Related|SCAPULOPERONEAL SYNDROME, X-LINKED, FORMERLY Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Facioscapulohumeral MESH:D020391 DO:DOID:11727 An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420) MESH:D009136 C05.651.534.500.400|C10.668.491.175.500.400|C16.320.577.400 C05.651.534.500|C10.668.491.175.500|C16.320.577 Atrophies, Facioscapulohumeral|Atrophy, Facioscapulohumeral|Dystrophies, Facioscapulohumeral Muscular|Dystrophies, Landouzy-Dejerine|Dystrophy, Facioscapulohumeral Muscular|Dystrophy, Landouzy-Dejerine|Facioscapulohumeral Atrophies|Facioscapulohumeral Atrophy|Facio-Scapulo-Humeral Dystrophy|Facioscapulohumeral Muscular Dystrophies|Facioscapulohumeral Muscular Dystrophy|Facioscapulohumeral Type Progressive Muscular Dystrophy|Facioscapuloperoneal Muscular Dystrophy|FSH Muscular Dystrophy|Landouzy-Dejerine Dystrophies|Landouzy Dejerine Dystrophy|Landouzy-Dejerine Dystrophy|Muscular Dystrophies, Facioscapulohumeral|Muscular Dystrophy, Landouzy Dejerine|Progressive Muscular Dystrophy, Facioscapulohumeral Type Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Hemizygous Lethal Type MESH:C564097 MESH:D049288 C05.651.534.500.280/C564097|C10.668.491.175.500.149/C564097|C16.320.577.280/C564097 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 OMIM:613723 DO:DOID:0110285 MESH:D049288 C05.651.534.500.280/613723|C10.668.491.175.500.149/613723|C16.320.577.280/613723 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2Q|LGMDR17|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 OMIM:615356 DO:DOID:0110287 MESH:D049288 C05.651.534.500.280/615356|C10.668.491.175.500.149/615356|C16.320.577.280/615356 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2S|LGMDR18|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 OMIM:617232 DO:DOID:0080762 MESH:D049288 C05.651.534.500.280/617232|C10.668.491.175.500.149/617232|C16.320.577.280/617232 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2Z|LGMDR21|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 OMIM:616812 DO:DOID:0110290 MESH:D049288 C05.651.534.500.280/616812|C10.668.491.175.500.149/616812|C16.320.577.280/616812 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE|CARICK|LGMD2X|LGMDR25|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular dystrophy, limb-girdle, type 1A MESH:C535906 DO:DOID:0080094 MESH:D049288 C05.651.534.500.280/C535906|C10.668.491.175.500.149/C535906|C16.320.577.280/C535906 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 Muscular Dystrophy, Limb-Girdle, Type1A|Muscular dystrophy, proximal, type 1A Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Limb-Girdle, Type 1C MESH:C563362 MESH:D049288 C05.651.534.500.280/C563362|C10.668.491.175.500.149/C563362|C16.320.577.280/C563362 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD1C Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Limb-Girdle, Type 1D MESH:C566370 MESH:D049288 C05.651.534.500.280/C566370|C10.668.491.175.500.149/C566370|C16.320.577.280/C566370 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD1D Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Limb-Girdle, Type 1E MESH:C566589 OMIM:603511 MESH:D049288 C05.651.534.500.280/C566589|C10.668.491.175.500.149/C566589|C16.320.577.280/C566589 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD1D, FORMERLY|LGMD1E|LGMDD1|MDRV|MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D, FORMERLY|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Limb-Girdle, Type 1F MESH:C564242 OMIM:608423 MESH:D049288 C05.651.534.500.280/C564242|C10.668.491.175.500.149/C564242|C16.320.577.280/C564242 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD1F|LGMDD2|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H OMIM:613530 DO:DOID:0110303 MESH:D049288 C05.651.534.500.280/613530|C10.668.491.175.500.149/613530|C16.320.577.280/613530 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD1H Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Limb-Girdle, Type 2G MESH:C566599 OMIM:601954 MESH:D049288 C05.651.534.500.280/C566599|C10.668.491.175.500.149/C566599|C16.320.577.280/C566599 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2G|LGMDR7|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Limb-Girdle, Type 2I MESH:C564612 MESH:D049288 C05.651.534.500.280/C564612|C10.668.491.175.500.149/C564612|C16.320.577.280/C564612 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2I Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Limb-Girdle, Type 2J MESH:C563854 OMIM:608807 MESH:D049288 C05.651.534.500.280/C563854|C10.668.491.175.500.149/C563854|C16.320.577.280/C563854 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2J|LGMDR10|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Limb-Girdle, Type 2L MESH:C566968 OMIM:611307 MESH:D049288 C05.651.534.500.280/C566968|C10.668.491.175.500.149/C566968|C16.320.577.280/C566968 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2L|LGMDR12|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Limb-Girdle, Type 2M MESH:C566912 MESH:D049288 C05.651.534.500.280/C566912|C10.668.491.175.500.149/C566912|C16.320.577.280/C566912 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2M Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Mabry Type MESH:C564096 MESH:D009136 C05.651.534.500/C564096|C10.668.491.175.500/C564096|C16.320.577/C564096 C05.651.534.500|C10.668.491.175.500|C16.320.577 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Oculopharyngeal MESH:D039141 DO:DOID:11719|OMIM:164300 An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy. MESH:D009136 C05.651.534.500.450|C10.668.491.175.500.450|C16.320.577.450 C05.651.534.500|C10.668.491.175.500|C16.320.577 Dystrophies, Oculopharyngeal Muscular|Dystrophy, Oculopharyngeal Muscular|Muscular Dystrophies, Oculopharyngeal|MUSCULAR DYSTROPHY, OCULOPHARYNGEAL|Oculopharyngeal Dystrophy|Oculopharyngeal Muscular Dystrophies|Oculopharyngeal Muscular Dystrophy|OCULOPHARYNGEAL MUSCULAR DYSTROPHY 1|OPMD1|Progressive Muscular Dystrophy, Oculopharyngeal Type Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Progressive Pectorodorsal MESH:C564095 MESH:D009136|MESH:D040181 C05.651.534.500/C564095|C10.668.491.175.500/C564095|C16.320.322/C564095|C16.320.577/C564095 C05.651.534.500|C10.668.491.175.500|C16.320.322|C16.320.577 Muscular Dystrophy, Progressive, Involving Shoulder Girdle and Back Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries MESH:C563554 MESH:D009136 C05.651.534.500/C563554|C10.668.491.175.500/C563554|C16.320.577/C563554 C05.651.534.500|C10.668.491.175.500|C16.320.577 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Dystrophy, Scapulohumeral MESH:C562932 MESH:D020391 C05.651.534.500.400/C562932|C10.668.491.175.500.400/C562932|C16.320.577.400/C562932 C05.651.534.500.400|C10.668.491.175.500.400|C16.320.577.400 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular dystrophy, tardive Emery-Dreifuss type, with contractures MESH:C535734 MESH:D003286|MESH:D020389 C05.550.323/C535734|C05.651.197/C535734|C05.651.534.500.350/C535734|C10.668.491.175.500.350/C535734|C16.320.322.625/C535734|C16.320.577.350/C535734 C05.550.323|C05.651.197|C05.651.534.500.350|C10.668.491.175.500.350|C16.320.322.625|C16.320.577.350 Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Muscular Hypertonia, Lethal MESH:C564982 MESH:D009122 C10.597.613.550/C564982|C23.888.592.608.550/C564982 C10.597.613.550|C23.888.592.608.550 Nervous system disease|Signs and symptoms Muscular Hypoplasia, Congenital Universal, of Krabbe MESH:C563553 MESH:D009135 C05.651/C563553|C10.668.491/C563553 C05.651|C10.668.491 Musculoskeletal disease|Nervous system disease Musculoskeletal Abnormalities MESH:D009139 Congenital structural abnormalities and deformities of the musculoskeletal system. MESH:D000013|MESH:D009140 C05.660|C16.131.621 C05|C16.131 Abnormalities, Musculoskeletal|Abnormality, Musculoskeletal|Musculoskeletal Abnormality Congenital abnormality|Musculoskeletal disease Musculoskeletal Diseases MESH:D009140 DO:DOID:17 Diseases of the muscles and their associated ligaments and other connective tissue and of the bones and cartilage viewed collectively. MESH:C C05 C Musculoskeletal Disease|Orthopedic Disorder|Orthopedic Disorders Musculoskeletal disease Musculoskeletal Pain MESH:D059352 Discomfort stemming from muscles, LIGAMENTS, tendons, and bones. MESH:D009135|MESH:D010146 C05.651.538|C23.888.592.612.547 C05.651|C23.888.592.612 Musculoskeletal Pains|Pain, Musculoskeletal|Pains, Musculoskeletal Musculoskeletal disease|Signs and symptoms Mushroom Poisoning MESH:D009145 Poisoning from ingestion of mushrooms, primarily from, but not restricted to, toxic varieties. MESH:D005517|MESH:D015651 C25.723.415.551|C25.723.680.551 C25.723.415|C25.723.680 Mushroom Poisonings|Poisoning, Mushroom|Poisonings, Mushroom Musk, Inability to Smell MESH:C564980 MESH:D000857 C10.597.751.600/C564980|C23.888.592.763.550/C564980 C10.597.751.600|C23.888.592.763.550 Nervous system disease|Signs and symptoms Mutism MESH:D009155 DO:DOID:4189 The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with BRAIN DISEASES or MENTAL DISORDERS. Organic mutism may be associated with damage to the FRONTAL LOBE; BRAIN STEM; THALAMUS; and CEREBELLUM. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. (From Fortschr Neurol Psychiatr 1994; 62(9):337-44) MESH:D013064|MESH:D065886 C10.597.606.150.500.800.500|C23.888.592.604.150.500.800.500|F03.625.875 C10.597.606.150.500.800|C23.888.592.604.150.500.800|F03.625 Aphasia, Kussmaul|Aphasia, Kussmaul's|Conversion Mutism|Conversion Mutisms|Elective Mutism|Elective Mutisms|Kussmaul Aphasia|Kussmaul's Aphasia|Kussmauls Aphasia|Mutism, Conversion|Mutism, Elective|Mutism, Organic|Mutisms|Mutisms, Conversion|Mutisms, Elective|Mutism, Selective|Mutisms, Organic|Mutisms, Voluntary|Mutism, Voluntary|Organic Mutism|Organic Mutisms|Selective Mutism|Voluntary Mutism|Voluntary Mutisms Mental disorder|Nervous system disease|Signs and symptoms Myalgia MESH:D063806 Painful sensation in the muscles. MESH:D009135|MESH:D059352 C05.651.542|C10.668.491.525|C23.888.592.612.547.249 C05.651|C10.668.491|C23.888.592.612.547 Muscle Pain|Muscle Soreness|Muscle Sorenesses|Muscle Tenderness|Pain, Muscle|Pains, Muscle|Soreness, Muscle|Tenderness, Muscle Musculoskeletal disease|Nervous system disease|Signs and symptoms Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors MESH:C564979 MESH:D020294 C10.668.758.800/C564979|C16.320.590/C564979 C10.668.758.800|C16.320.590 Genetic disease (inborn)|Nervous system disease Myasthenia, Familial Infantile, 1 MESH:C565289 OMIM:605809 MESH:D020294 C10.668.758.800/C565289|C16.320.590/C565289 C10.668.758.800|C16.320.590 CMS1A1, FORMERLY|CMS4A|CMS Ia1, FORMERLY|Congenital Myasthenic Syndrome Type Ia1|CONGENITAL MYASTHENIC SYNDROME TYPE Ia1, FORMERLY|MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL Genetic disease (inborn)|Nervous system disease Myasthenia Gravis MESH:D009157 DO:DOID:437 A disorder of neuromuscular transmission characterized by fatigable weakness of cranial and skeletal muscles with elevated titers of ACETYLCHOLINE RECEPTORS or muscle-specific receptor tyrosine kinase (MuSK) autoantibodies. Clinical manifestations may include ocular muscle weakness (fluctuating, asymmetric, external ophthalmoplegia; diplopia; ptosis; and weakness of eye closure) and extraocular fatigable weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles (ocular myasthenia). THYMOMA is commonly associated with this condition. MESH:D020274|MESH:D020361|MESH:D020511 C04.588.614.550.500|C04.730.856.490|C10.114.656|C10.574.781.588|C10.668.758.725|C20.111.258.500 C04.588.614.550|C04.730.856|C10.114|C10.574.781|C10.668.758|C20.111.258 Anti MuSK Myasthenia Gravis|Anti-MuSK Myasthenia Gravis|Generalized Myasthenia Gravis|Muscle Specific Receptor Tyrosine Kinase Myasthenia Gravis|Muscle-Specific Receptor Tyrosine Kinase Myasthenia Gravis|Muscle Specific Tyrosine Kinase Antibody Positive Myasthenia Gravis|Muscle-Specific Tyrosine Kinase Antibody Positive Myasthenia Gravis|MuSK MG|MuSK Myasthenia Gravis|Myasthenia Gravis, Anti-MuSK|Myasthenia Gravis, Generalized|Myasthenia Gravis, MuSK|Myasthenia Gravis, Ocular|Ocular Myasthenia Gravis Cancer|Immune system disease|Nervous system disease Myasthenia Gravis, Autoimmune, Experimental MESH:D020720 Any autoimmune animal disease model used in the study of MYASTHENIA GRAVIS. Injection with purified neuromuscular junction acetylcholine receptor (AChR) (see RECEPTORS, CHOLINERGIC) components results in a myasthenic syndrome that has acute and chronic phases. The motor endplate pathology, loss of acetylcholine receptors, presence of circulating anti-AChR antibodies, and electrophysiologic changes make this condition virtually identical to human myasthenia gravis. Passive transfer of AChR antibodies or lymphocytes from afflicted animals to normals induces passive transfer experimental autoimmune myasthenia gravis. (From Joynt, Clinical Neurology, 1997, Ch 54, p3) MESH:D009157|MESH:D020721 C10.114.656.300|C10.114.703.350|C10.668.758.725.300|C20.111.258.500.300|C20.111.258.625.350 C10.114.656|C10.114.703|C10.668.758.725|C20.111.258.500|C20.111.258.625 Autoimmune Experimental Myasthenia Gravis|Experimental Autoimmune Myasthenia Gravis, Passive Transfer|Experimental Myasthenia|Experimental Myasthenia Gravis|Experimental Myasthenias|Myasthenia, Experimental|Myasthenia Gravis, Autoimmune Experimental|Myasthenia Gravis, Experimental|Myasthenia Gravis, Experimental Autoimmune|Myasthenias, Experimental|Passive Transfer Experimental Autoimmune Myasthenia Gravis Immune system disease|Nervous system disease Myasthenia Gravis, Neonatal MESH:D020941 DO:DOID:14043 A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4) MESH:D009157 C10.114.656.650|C10.668.758.725.650|C20.111.258.500.650 C10.114.656|C10.668.758.725|C20.111.258.500 Antenatal Myasthenia Gravis|Myasthenia Gravis, Antenatal|Myasthenia Gravis, Neonatal, Persistent|Myasthenia Gravis, Neonatal, Transient|Myasthenia Gravis, Persistent, Neonatal|Myasthenia Gravis, Transient, Neonatal|Neonatal Myasthenia Gravis|Neonatal Myasthenia Gravis, Persistent|Neonatal Myasthenia Gravis, Transient|Persistent Neonatal Myasthenia Gravis|Transient Neonatal Myasthenia Gravis Immune system disease|Nervous system disease Myasthenia Gravis with Thymus Hyperplasia MESH:C564628 OMIM:607085 MESH:D009157 C04.588.614.550.500/C564628|C04.730.856.490/C564628|C10.114.656/C564628|C10.574.781.588/C564628|C10.668.758.725/C564628|C20.111.258.500/C564628 C04.588.614.550.500|C04.730.856.490|C10.114.656|C10.574.781.588|C10.668.758.725|C20.111.258.500 MYAS1 Cancer|Immune system disease|Nervous system disease Myasthenia, Limb-Girdle, Autoimmune MESH:C563552 MESH:D009157|MESH:D020294 C04.588.614.550.500/C563552|C04.730.856.490/C563552|C10.114.656/C563552|C10.574.781.588/C563552|C10.668.758.725/C563552|C10.668.758.800/C563552|C16.320.590/C563552|C20.111.258.500/C563552 C04.588.614.550.500|C04.730.856.490|C10.114.656|C10.574.781.588|C10.668.758.725|C10.668.758.800|C16.320.590|C20.111.258.500 Myasthenia Gravis, Limb-Girdle Cancer|Genetic disease (inborn)|Immune system disease|Nervous system disease Myasthenia, Limb-Girdle, with Tubular Aggregates MESH:C566434 MESH:D020294 C10.668.758.800/C566434|C16.320.590/C566434 C10.668.758.800|C16.320.590 Genetic disease (inborn)|Nervous system disease Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism MESH:C563830 MESH:D001763|MESH:D020294 C10.668.758.800/C563830|C11.338.204/C563830|C16.320.590/C563830 C10.668.758.800|C11.338.204|C16.320.590 Eye disease|Genetic disease (inborn)|Nervous system disease Myasthenic Syndrome, Congenital, Fast-Channel MESH:C563832 OMIM:608930|OMIM:616322|OMIM:616324 MESH:D020294 C10.668.758.800/C563832|C16.320.590/C563832 C10.668.758.800|C16.320.590 CMS1B|CMS3B|CMS4B|MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL|MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL|MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL Genetic disease (inborn)|Nervous system disease Myasthenic Syndrome, Congenital, Ie MESH:C563831 MESH:D020294 C10.668.758.800/C563831|C16.320.590/C563831 C10.668.758.800|C16.320.590 Genetic disease (inborn)|Nervous system disease Myasthenic syndrome, congenital, postsynaptic slow-channel MESH:C536091 OMIM:601462 MESH:D020294 C10.668.758.800/C536091|C16.320.590/C536091 C10.668.758.800|C16.320.590 CMS1A|CMS2A, FORMERLY|CMS IIa, FORMERLY|MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL|Myasthenic syndrome, congenital, type IIa|MYASTHENIC SYNDROME, CONGENITAL, TYPE IIa, FORMERLY Genetic disease (inborn)|Nervous system disease Myasthenic syndrome, congenital, type Id MESH:C536090 OMIM:608931 MESH:D020294 C10.668.758.800/C536090|C16.320.590/C536090 C10.668.758.800|C16.320.590 CMS1D, FORMERLY|CMS4C|CMS Id, FORMERLY|FIM1, FORMERLY|MYASTHENIA, FAMILIAL INFANTILE, 1, FORMERLY|MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY|Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency|Myasthenic Syndrome, Congenital, Postsynaptic, Associated With Acetylcholine Receptor Deficiency|MYASTHENIC SYNDROME, CONGENITAL, TYPE Id Genetic disease (inborn)|Nervous system disease Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency MESH:C563829 OMIM:616314|OMIM:616323|OMIM:616325|OMIM:616326 MESH:D019465|MESH:D020294 C05.660.207/C563829|C10.668.758.800/C563829|C16.131.621.207/C563829|C16.320.590/C563829 C05.660.207|C10.668.758.800|C16.131.621.207|C16.320.590 CMS11|CMS1E, FORMERLY|CMS2C|CMS3C|CMS9|CMS Ie, FORMERLY|MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY|MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY|MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY|MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY|MYASTHENIC SYNDROME, CONGENITAL, Ie, FORMERLY Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Myasthenic Syndrome due to Mutation in SCN4A MESH:C565830 MESH:D020294 C10.668.758.800/C565830|C16.320.590/C565830 C10.668.758.800|C16.320.590 Genetic disease (inborn)|Nervous system disease Myasthenic Syndromes, Congenital MESH:D020294 DO:DOID:3635|OMIM:610542|OMIM:614198|OMIM:614750|OMIM:615120|OMIM:616040|OMIM:616224|OMIM:616227|OMIM:616228|OMIM:616304|OMIM:616313|OMIM:616321|OMIM:616330|OMIM:616720|OMIM:617143|OMIM:617239 A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7) MESH:D020511|MESH:D030342 C10.668.758.800|C16.320.590 C10.668.758|C16.320 CMS12|CMS13|CMS14|CMS15|CMS16|CMS17|CMS18|CMS19|CMS20|CMS21|CMS22|CMS2A|CMS3A|CMS7A|CMS8|CMSPPD|CMSTA1|CMSTA2|CMSTA3|CMSWTA|Congenital Myasthenia|Congenital Myasthenia Gravis|Congenital Myasthenias|Congenital Myasthenic Syndrome|Congenital Myasthenic Syndromes|Congenital Myasthenic Syndromes, Postsynaptic|Congenital Myasthenic Syndromes, Presynaptic|Congenital Slow Channel Myasthenic Syndrome|Congenital Slow-Channel Myasthenic Syndrome|Congenital Slow Channel Myasthenic Syndromes|Congenital Slow-Channel Myasthenic Syndromes|Gravi, Congenital Myasthenia|Myasthenia, Congenital|Myasthenia Gravis, Congenital|Myasthenias, Congenital|Myasthenic Syndrome, Congenital|MYASTHENIC SYNDROME, CONGENITAL, 12|MYASTHENIC SYNDROME, CONGENITAL, 13|MYASTHENIC SYNDROME, CONGENITAL, 14|MYASTHENIC SYNDROME, CONGENITAL, 15|MYASTHENIC SYNDROME, CONGENITAL, 16|MYASTHENIC SYNDROME, CONGENITAL, 17|MYASTHENIC SYNDROME, CONGENITAL, 18|MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA|MYASTHENIC SYNDROME, CONGENITAL, 19|MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC|MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC|MYASTHENIC SYNDROME, CONGENITAL, 22|MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL|MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL|MYASTHENIC SYNDROME, CONGENITAL, 7A, PRESYNAPTIC, AND DISTAL MOTOR NEUROPATHY, AUTOSOMAL DOMINANT|MYASTHENIC SYNDROME, CONGENITAL, 8|MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE|MYASTHENIC SYNDROME, CONGENITAL, DUE TO AGRIN DEFICIENCY|Myasthenic Syndrome, Congenital, Slow-Channel|MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES|MYASTHENIC SYNDROME, CONGENITAL, WITH PRE- AND POSTSYNAPTIC DEFECTS|MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1|MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2|MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 3|Myasthenic Syndromes, Congenital, Slow Channel|Postsynaptic Congenital Myasthenic Syndrome|Postsynaptic Congenital Myasthenic Syndromes|PREPL DEFICIENCY|Presynaptic Congenital Myasthenic Syndrome|Presynaptic Congenital Myasthenic Syndromes|Slow Channel Congenital Myasthenic Syndrome|Slow-Channel Congenital Myasthenic Syndrome|Slow Channel Congenital Myasthenic Syndromes|Slow-Channel Congenital Myasthenic Syndromes|Syndrome, Congenital Myasthenic|Syndromes, Congenital Myasthenic Genetic disease (inborn)|Nervous system disease Mycetoma MESH:D008271 DO:DOID:13078 A chronic progressive subcutaneous infection caused by species of fungi (eumycetoma), or actinomycetes (actinomycetoma). It is characterized by tumefaction, abscesses, and tumor-like granules representing microcolonies of pathogens, such as MADURELLA fungi and bacteria ACTINOMYCETES, with different grain colors. MESH:D003881|MESH:D009617|MESH:D017192 C01.150.252.410.040.692.500|C01.150.252.819.557|C01.150.703.302.500|C01.800.200.500|C01.800.720.557|C17.800.838.208.557|C17.800.838.765.557 C01.150.252.410.040.692|C01.150.252.819|C01.150.703.302|C01.800.200|C01.800.720|C17.800.838.208|C17.800.838.765 Actinomycetoma|Eumycetoma|Madura Foot|Maduromycosis Bacterial infection or mycosis|Skin disease Mycobacterium avium-intracellulare Infection MESH:D015270 DO:DOID:2755 A nontuberculous infection when occurring in humans. It is characterized by pulmonary disease, lymphadenitis in children, and systemic disease in AIDS patients. Mycobacterium avium-intracellulare infection of birds and swine results in tuberculosis. MESH:D009165 C01.150.252.410.040.552.475.495 C01.150.252.410.040.552.475 Infection, Mycobacterium avium intracellulare|Infection, Mycobacterium avium-intracellulare|Infection, Mycobacterium intracellulare|Infections, Mycobacterium avium-intracellulare|Infections, Mycobacterium intracellulare|Mycobacterium avium intracellulare Infection|Mycobacterium avium-intracellulare Infections|Mycobacterium intracellulare Infection|Mycobacterium intracellulare Infections Bacterial infection or mycosis Mycobacterium Infections MESH:D009164 Infections with bacteria of the genus MYCOBACTERIUM. MESH:D000193 C01.150.252.410.040.552 C01.150.252.410.040 Infection, Mycobacterium|Infections, Mycobacterium|Mycobacterium Infection Bacterial infection or mycosis Mycobacterium Infections, Nontuberculous MESH:D009165 OMIM:209950 Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see MYCOBACTERIUM AVIUM COMPLEX;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae, M. leprae. MESH:D009164 C01.150.252.410.040.552.475 C01.150.252.410.040.552 Atypical Mycobacterial Infection, Disseminated|Atypical Mycobacterial Infection, Familial Disseminated|Atypical Mycobacteriosis, Familial|Atypical Mycobacteriosis, Familial Disseminated|Atypical Mycobacterium Infection|Atypical Mycobacterium Infections|Familial Atypical Mycobacterioses|Familial Atypical Mycobacteriosis|IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE|IMD27A|IMMUNODEFICIENCY 27A|IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE|Infection, Mycobacterium abscessus|Infections, Atypical Mycobacterium|Infections, Mycobacterium abscessus|Mycobacterioses, Familial Atypical|Mycobacteriosis, Familial Atypical|Mycobacterium abscessus Infection|Mycobacterium abscessus Infections|Mycobacterium Infection, Atypical|Mycobacterium Infection, Nontuberculous|Mycobacterium Infections, Atypical|Nontuberculous Mycobacterium Infection|Nontuberculous Mycobacterium Infections Bacterial infection or mycosis MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO OMIM:607948 MESH:C536092|MESH:D014376 C01.150.252.410.040.552.846/607948|C01.150.252.410.040.552/C536092/607948|C23.550.291.687/C536092/607948 C01.150.252.410.040.552.846|C01.150.252.410.040.552/C536092|C23.550.291.687/C536092 MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED Bacterial infection or mycosis|Pathology (process) MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 OMIM:607949 MESH:C536092|MESH:D014376 C01.150.252.410.040.552.846/607949|C01.150.252.410.040.552/C536092/607949|C23.550.291.687/C536092/607949 C01.150.252.410.040.552.846|C01.150.252.410.040.552/C536092|C23.550.291.687/C536092 MTBS1 Bacterial infection or mycosis|Pathology (process) MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 OMIM:611046 MESH:C536092|MESH:D014376 C01.150.252.410.040.552.846/611046|C01.150.252.410.040.552/C536092/611046|C23.550.291.687/C536092/611046 C01.150.252.410.040.552.846|C01.150.252.410.040.552/C536092|C23.550.291.687/C536092 MTBS2 Bacterial infection or mycosis|Pathology (process) MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 OMIM:612929 MESH:C536092|MESH:D014376 C01.150.252.410.040.552.846/612929|C01.150.252.410.040.552/C536092/612929|C23.550.291.687/C536092/612929 C01.150.252.410.040.552.846|C01.150.252.410.040.552/C536092|C23.550.291.687/C536092 MTBS3 Bacterial infection or mycosis|Pathology (process) Mycobacterium tuberculosis, susceptibility to infection by MESH:C536092 MESH:D004198|MESH:D009164 C01.150.252.410.040.552/C536092|C23.550.291.687/C536092 C01.150.252.410.040.552|C23.550.291.687 Bacterial infection or mycosis|Pathology (process) MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED OMIM:300259 MESH:C536092|MESH:D014376 C01.150.252.410.040.552.846/300259|C01.150.252.410.040.552/C536092/300259|C23.550.291.687/C536092/300259 C01.150.252.410.040.552.846|C01.150.252.410.040.552/C536092|C23.550.291.687/C536092 MTBSX Bacterial infection or mycosis|Pathology (process) Mycoplasma Infections MESH:D009175 Infections with species of the genus MYCOPLASMA. MESH:D009180 C01.150.252.400.610.610 C01.150.252.400.610 Eperythrozoonoses|Eperythrozoonosis|Infection, Mycoplasma|Infections, Mycoplasma|Mycoplasma Infection Bacterial infection or mycosis Mycoplasmatales Infections MESH:D009180 Infections with bacteria of the order MYCOPLASMATALES. MESH:D016905 C01.150.252.400.610 C01.150.252.400 Infection, Mycoplasmatales|Infections, Mycoplasmatales|Mycoplasmatales Infection Bacterial infection or mycosis Mycoses MESH:D009181 DO:DOID:1564 Diseases caused by FUNGI. MESH:D001423 C01.150.703 C01.150 Disease, Fungal|Disease, Fungus|Diseases, Fungal|Diseases, Fungus|Fungal Disease|Fungal Diseases|Fungal Infection|Fungal Infections|Fungus Disease|Fungus Diseases|Fungus Infection|Fungus Infections|Infection, Fungal|Infection, Fungus|Infections, Fungal|Infections, Fungus Bacterial infection or mycosis Mycosis Fungoides MESH:D009182 DO:DOID:8691 A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected. MESH:D016410 C04.557.386.480.750.800.550|C15.604.515.569.480.750.800.550|C20.683.515.761.480.750.800.550 C04.557.386.480.750.800|C15.604.515.569.480.750.800|C20.683.515.761.480.750.800 Cancer|Immune system disease|Lymphatic disease mycotoxic lupinosis MESH:C000720973 MESH:D008107|MESH:D009181 C01.150.703/C000720973|C06.552/C000720973 C01.150.703|C06.552 lupinopsis|mycotoxin lupinopsis Bacterial infection or mycosis|Digestive system disease Mycotoxicosis MESH:D015651 Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin). MESH:D011041 C25.723.680 C25.723 Fungus Poisoning|Fungus Poisonings|Mycotoxicoses|Poisoning, Fungus|Poisonings, Fungus mycotoxin-induced chronic inflammatory response syndrome MESH:C000729046 MESH:D009181 C01.150.703/C000729046 C01.150.703 chronic inflammatory response syndrome, mycotoxin-induced|CIRS, mycotoxin-induced|mycotoxin-induced CIRS Bacterial infection or mycosis MYD88 Deficiency MESH:C567379 OMIM:612260 MESH:D000081207 C16.320.798/C567379|C20.673.795/C567379 C16.320.798|C20.673.795 IMD68|IMMUNODEFICIENCY 68|MYD88D|MYD88 DEFICIENCY|Pyogenic Bacterial Infections, Recurrent, Due To MYD88 Deficiency|Recurrent Pyogenic Bacterial Infections Due To MYD88 Deficiency Genetic disease (inborn)|Immune system disease Mydriasis MESH:D015878 Dilation of pupils to greater than 6 mm combined with failure of the pupils to constrict when stimulated with light. This condition may occur due to injury of the pupillary fibers in the oculomotor nerve, in acute angle-closure glaucoma, and in ADIE SYNDROME. MESH:D011681 C11.710.570 C11.710 Eye disease Mydriasis, Congenital MESH:C563221 MESH:D015785|MESH:D015878 C11.270/C563221|C11.710.570/C563221|C16.320.290/C563221 C11.270|C11.710.570|C16.320.290 Eye disease|Genetic disease (inborn) Myelinolysis, Central Pontine MESH:D017590 DO:DOID:636 A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6) MESH:D001928|MESH:D003711 C10.228.140.163.560|C10.314.500|C18.452.132.560 C10.228.140.163|C10.314|C18.452.132 Central Pontine Myelinoclasis|Central Pontine Myelinolysis|Extrapontine Myelinoclases|Extrapontine Myelinoclasis|Extrapontine Myelinolyses|Extrapontine Myelinolysis|Myelinoclases, Extrapontine|Myelinoclasis, Central Pontine|Myelinoclasis, Extrapontine|Myelinolyses, Extrapontine|Myelinolysis, Extrapontine|Pontine Myelinolysis, Central Metabolic disease|Nervous system disease Myelitis MESH:D009187 DO:DOID:322 Inflammation of the spinal cord. Relatively common etiologies include infections; AUTOIMMUNE DISEASES; SPINAL CORD; and ischemia (see also SPINAL CORD VASCULAR DISEASES). Clinical features generally include weakness, sensory loss, localized pain, incontinence, and other signs of autonomic dysfunction. MESH:D000090862|MESH:D002494|MESH:D013118 C01.207.618|C10.228.228.618|C10.228.854.525|C10.586.750 C01.207|C10.228.228|C10.228.854|C10.586 Infectious Myelitis|Inflammation, Spinal Cord|Inflammations, Spinal Cord|Inflammatory Myelopathies|Inflammatory Myelopathy|Myelitides|Myelitides, Subacute Necrotizing|Myelitis, Infectious|Myelitis, Subacute Necrotizing|Myelopathies, Inflammatory|Myelopathy, Inflammatory|Necrotizing Myelitides, Subacute|Necrotizing Myelitis, Subacute|Spinal Cord Inflammation|Spinal Cord Inflammations|Subacute Necrotizing Myelitides|Subacute Necrotizing Myelitis Nervous system disease Myelitis, Transverse MESH:D009188 Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6) MESH:D009187|MESH:D020278|MESH:D020361 C01.207.618.250|C04.588.614.550.550|C04.730.856.543|C10.114.375.600|C10.228.228.618.250|C10.228.854.525.553|C10.314.350.600|C10.574.781.625|C10.586.750.553|C20.111.258.250.550 C01.207.618|C04.588.614.550|C04.730.856|C10.114.375|C10.228.228.618|C10.228.854.525|C10.314.350|C10.574.781|C10.586.750|C20.111.258.250 Acute Transverse Myelitis|Demyelinative Myelitis|Myelitides, Subacute Transverse|Myelitis, Acute Transverse|Myelitis, Demyelinative|Myelitis, Necrotizing|Myelitis, Paraneoplastic|Myelitis, Postinfectious|Myelitis, Postvaccinal|Myelitis, Subacute Transverse|Necrotizing Myelitis|Paraneoplastic Myelitis|Postinfectious Myelitis|Postvaccinal Myelitis|Subacute Transverse Myelitis|Transverse Myelitis|Transverse Myelitis, Acute|Transverse Myelitis, Subacute|Transverse Myelopathy Syndrome|Transverse Myelopathy Syndromes Cancer|Immune system disease|Nervous system disease Myelocerebellar Disorder MESH:C563233 OMIM:159550 MESH:D002524|MESH:D010198 C10.228.140.252.190/C563233|C10.597.350.090.500/C563233|C15.378.700/C563233|C23.888.592.350.090.200/C563233 C10.228.140.252.190|C10.597.350.090.500|C15.378.700|C23.888.592.350.090.200 Ataxia-Pancytopenia Syndrome|ATXPC|MYELOCEREBELLAR DISORDER Blood disease|Nervous system disease|Signs and symptoms Myelocytic leukemia-like syndrome, familial, chronic MESH:C536093 OMIM:600080 MESH:D007951|MESH:D009386 C04.557.337.539/C536093|C04.700/C536093|C16.320.700/C536093 C04.557.337.539|C04.700|C16.320.700 Cml-Like Syndrome, Familial Cancer|Genetic disease (inborn) Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay MESH:C563345 MESH:D006130|MESH:D007153|MESH:D009190|MESH:D011596|MESH:D019465 C05.660.207/C563345|C10.597.606.881/C563345|C15.378.190.625/C563345|C16.131.621.207/C563345|C20.673/C563345|C23.550.393/C563345|C23.888.592.604.882/C563345 C05.660.207|C10.597.606.881|C15.378.190.625|C16.131.621.207|C20.673|C23.550.393|C23.888.592.604.882 Blood disease|Congenital abnormality|Immune system disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Myelodysplastic-Myeloproliferative Diseases MESH:D054437 DO:DOID:4972 Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE DISORDERS. MESH:D001855 C15.378.190.615 C15.378.190 Disease, Myelodysplastic-Myeloproliferative|Disease, Myeloproliferative-Myelodisplastic|Diseases, Myelodysplastic-Myeloproliferative|Diseases, Myeloproliferative-Myelodisplastic|Myelodysplastic-Myeloproliferative Disease|Myelodysplastic Myeloproliferative Diseases|Myeloproliferative-Myelodisplastic Disease|Myeloproliferative Myelodisplastic Diseases|Myeloproliferative-Myelodisplastic Diseases Blood disease Myelodysplastic Syndromes MESH:D009190 DO:DOID:0050908|OMIM:614286 Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA. MESH:D001855 C15.378.190.625 C15.378.190 Dysmyelopoietic Syndrome|Dysmyelopoietic Syndromes|Hematopoetic Myelodysplasia|Hematopoetic Myelodysplasias|MDS|Myelodysplasia, Hematopoetic|Myelodysplasias, Hematopoetic|Myelodysplastic Syndrome|MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO, INCLUDED|Syndrome, Dysmyelopoietic|Syndrome, Myelodysplastic|Syndromes, Dysmyelopoietic|Syndromes, Myelodysplastic Blood disease Myeloid splenomegaly MESH:C536094 MESH:D010015|MESH:D013163 C05.116.099.736/C536094|C05.116.264.579.704/C536094|C23.300.775.750/C536094 C05.116.099.736|C05.116.264.579.704|C23.300.775.750 Idiopathic myeloid splenomegaly Musculoskeletal disease|Pathology (anatomical condition) MYELOID TUMOR SUPPRESSOR OMIM:601308 MESH:D007951 C04.557.337.539/601308 C04.557.337.539 MLRL|MYELOID LEUKEMIA-RELATED LOCUS Cancer Myelolipoma MESH:D018209 A rare benign tumor of the adrenal gland, several centimeters in diameter, composed in varying proportions of adipose tissue, lymphocytes, and primitive myeloid cells, probably a developmental abnormality. (Dorland, 27th ed) MESH:D018205 C04.557.450.550.710 C04.557.450.550 Myelolipomas Cancer Myeloperoxidase Deficiency MESH:C562864 OMIM:254600 MESH:D008661 C16.320.565/C562864|C18.452.648/C562864 C16.320.565|C18.452.648 MPOD|MPO Deficiency Genetic disease (inborn)|Metabolic disease Myeloproliferative Disease, Autosomal Recessive MESH:C564977 MESH:D009196 C15.378.190.636/C564977 C15.378.190.636 Blood disease Myeloproliferative Disorder, Chronic, with Eosinophilia MESH:C565054 OMIM:131440 MESH:D004802|MESH:D009196 C15.378.190.636/C565054|C15.378.553.231/C565054 C15.378.190.636|C15.378.553.231 EMP|Eosinophils, Malignant Proliferation of|MPE Blood disease Myeloproliferative Disorders MESH:D009196 DO:DOID:4960 Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE. MESH:D001855 C15.378.190.636 C15.378.190 Disorder, Myeloproliferative|Disorders, Myeloproliferative|Myeloproliferative Disorder Blood disease MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO OMIM:616871 MESH:D019337|MESH:D054437 C04.588.448/616871|C15.378.190.615/616871|C15.378.400/616871 C04.588.448|C15.378.190.615|C15.378.400 MPLPF Blood disease|Cancer Myeloproliferative Syndrome, Transient MESH:C563551 OMIM:159595 MESH:D004314|MESH:D007955 C10.597.606.360.220/C563551|C15.378.190.636.484/C563551|C15.378.553.475.428/C563551|C16.131.077.327/C563551|C16.131.260.260/C563551|C16.320.180.260/C563551 C10.597.606.360.220|C15.378.190.636.484|C15.378.553.475.428|C16.131.077.327|C16.131.260.260|C16.320.180.260 Leukemia, Transient|MST|TAM|Transient Abnormal Myelopoiesis Blood disease|Congenital abnormality|Genetic disease (inborn)|Nervous system disease MYH9-Related Disorders MESH:C535507 OMIM:155100 MESH:D006319|MESH:D013921 C09.218.458.341.887/C535507|C10.597.751.418.341.887/C535507|C15.378.140.855/C535507|C23.888.592.763.393.341.887/C535507 C09.218.458.341.887|C10.597.751.418.341.887|C15.378.140.855|C23.888.592.763.393.341.887 Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia|Alport syndrome with macrothrombocytopenia|ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, FORMERLY|APSM, FORMERLY|Autosomal Dominant Myh9 Spectrum Disorders|BDPLT6|BLEEDING DISORDER, PLATELET-TYPE, 6|Deafness, Autosomal Dominant 17|DFNA17|Dohle leukocyte inclusions with giant platelets|Epstein syndrome|EPSTNS|Fechtner's syndrome|Fechtner syndrome|FTNS|GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA|Macrothrombocytopathy, Nephritis, and Deafness|Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions|MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS|MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS|MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS|MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS|MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS|Macrothrombocytopenia with leukocyte inclusions|MATINS|May-Hegglin anomaly|MHA|MYH9 Gene-Related Autosomal Macrothrombocytopenias|MYH9RD|MYH9-Related Disease|Myh9-Related Disorder|Myh9-Related Macrothrombocytopenias|SBS|Sebastian platelet syndrome|Sebastian syndrome Blood disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Myiasis MESH:D009198 DO:DOID:11080 The invasion of living tissues of man and other mammals by dipterous larvae. MESH:D004478 C01.610.858.211.503 C01.610.858.211 Fly Strike|Fly Strikes|Infestation, Maggot|Infestations, Maggot|Maggot Infestation|Maggot Infestations|Myiases Parasitic disease Myocardial Bridging MESH:D054084 A malformation that is characterized by a muscle bridge over a segment of the CORONARY ARTERIES. Systolic contractions of the muscle bridge can lead to narrowing of coronary artery; coronary compression; MYOCARDIAL ISCHEMIA; MYOCARDIAL INFARCTION; and SUDDEN CARDIAC DEATH. MESH:D003330 C14.240.400.210.500|C14.280.400.210.500|C16.131.240.400.210.500 C14.240.400.210|C14.280.400.210|C16.131.240.400.210 Bridging, Myocardial|Bridgings, Myocardial|Myocardial Bridgings Cardiovascular disease|Congenital abnormality Myocardial Contusions MESH:D000071956 Bruise to the heart muscle due to blunt thoracic trauma. MESH:D003288|MESH:D006335 C26.891.375.750|C26.974.250.875 C26.891.375|C26.974.250 Blunt Cardiac Injuries|Blunt Cardiac Injury|Cardiac Contusion|Cardiac Contusions|Cardiac Injuries, Blunt|Cardiac Injury, Blunt|Contusio Cordis|Contusion, Cardiac|Contusion, Heart|Contusion, Myocardial|Contusions, Cardiac|Contusions, Heart|Contusions, Myocardial|Cordis, Contusio|Heart Contusion|Heart Contusions|Injuries, Blunt Cardiac|Injury, Blunt Cardiac|Myocardial Contusion Wounds and injuries Myocardial Infarction MESH:D009203 DO:DOID:5844|OMIM:608446|OMIM:608557 NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION). MESH:D007238|MESH:D017202 C14.280.647.500|C14.907.585.500|C23.550.513.355.750|C23.550.717.489.750 C14.280.647|C14.907.585|C23.550.513.355|C23.550.717.489 Cardiovascular Stroke|Cardiovascular Strokes|Heart Attack|Heart Attacks|Infarction, Myocardial|Infarctions, Myocardial|Infarct, Myocardial|Infarcts, Myocardial|MCI1, INCLUDED|MCI2|Myocardial Infarct|MYOCARDIAL INFARCTION, PROTECTION AGAINST, INCLUDED|Myocardial Infarctions|MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO|MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1, INCLUDED|MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2|Myocardial Infarcts|Stroke, Cardiovascular|Strokes, Cardiovascular Cardiovascular disease|Pathology (process) Myocardial Ischemia MESH:D017202 DO:DOID:3393 A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION). MESH:D006331|MESH:D014652 C14.280.647|C14.907.585 C14.280|C14.907 Disease, Ischemic Heart|Diseases, Ischemic Heart|Heart Disease, Ischemic|Heart Diseases, Ischemic|Ischemia, Myocardial|Ischemias, Myocardial|Ischemic Heart Disease|Ischemic Heart Diseases|Myocardial Ischemias Cardiovascular disease Myocardial Reperfusion Injury MESH:D015428 Damage to the MYOCARDIUM resulting from MYOCARDIAL REPERFUSION (restoration of blood flow to ischemic areas of the HEART.) Reperfusion takes place when there is spontaneous thrombolysis, THROMBOLYTIC THERAPY, collateral flow from other coronary vascular beds, or reversal of vasospasm. MESH:D009202|MESH:D015427|MESH:D017202 C14.280.238.615|C14.280.647.625|C14.907.585.625|C14.907.725.600|C23.550.767.877.500 C14.280.238|C14.280.647|C14.907.585|C14.907.725|C23.550.767.877 Injuries, Myocardial Reperfusion|Injury, Myocardial Reperfusion|Myocardial Ischemic Reperfusion Injury|Myocardial Reperfusion Injuries|Reperfusion Injuries, Myocardial|Reperfusion Injury, Myocardial Cardiovascular disease|Pathology (process) Myocardial Stunning MESH:D017682 DO:DOID:9767 Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity. MESH:D006331|MESH:D012816 C14.280.671|C23.888.582 C14.280|C23.888 Hibernation, Myocardial|Myocardial Hibernation|Myocardium, Stunned|Stunned Myocardium|Stunning, Myocardial Cardiovascular disease|Signs and symptoms Myocarditis MESH:D009205 DO:DOID:820 Inflammatory processes of the muscular walls of the heart (MYOCARDIUM) which result in injury to the cardiac muscle cells (MYOCYTES, CARDIAC). Manifestations range from subclinical to sudden death (DEATH, SUDDEN). Myocarditis in association with cardiac dysfunction is classified as inflammatory CARDIOMYOPATHY usually caused by INFECTION, autoimmune diseases, or responses to toxic substances. Myocarditis is also a common cause of DILATED CARDIOMYOPATHY and other cardiomyopathies. MESH:D009202 C14.280.238.625 C14.280.238 Carditis|Myocarditides Cardiovascular disease MYOCLONIC-ATONIC EPILEPSY OMIM:616421 DO:DOID:0060475 MESH:D004829|MESH:D004831 C10.228.140.490.375.130/616421|C10.228.140.490.375/616421|C10.228.140.490.493.063/616421 C10.228.140.490.375|C10.228.140.490.375.130|C10.228.140.490.493.063 MAE Nervous system disease Myoclonic Cerebellar Dyssynergia MESH:D002527 DO:DOID:12707 A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1) MESH:D013132 C10.228.140.252.700.250|C10.228.854.787.500|C10.574.500.825.250|C16.320.400.780.500 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 Ataxia, Dentate Cerebellar|Ataxias, Dentate Cerebellar|Atrophies, Dentate Cerebellar|Atrophy, Dentate Cerebellar|Cerebellar Ataxias, Dentate|Cerebellar Atrophy, Dentate|Cerebellar Dyssynergia|Cerebellar Dyssynergia, Myoclonic|Cerebellar Dyssynergias|Cerebellar Dyssynergias, Myoclonic|Cerebelloparenchymal Disorder V|Dentate Cerebellar Ataxia|Dentate Cerebellar Ataxias|Dentate Cerebellar Atrophies|Dentate Cerebellar Atrophy|Dentate Nucleus Syndrome, Ramsay Hunt|Dyssynergia, Cerebellar|Dyssynergia Cerebellaris Myoclonica|Dyssynergia Cerebellaris Myoclonica Of Hunt|Dyssynergia Cerebellaris Progressiva|Dyssynergia, Myoclonic Cerebellar|Dyssynergias, Cerebellar|Dyssynergias, Myoclonic Cerebellar|Myoclonic Cerebellar Dyssynergias|Ramsay Hunt Cerebellar Syndrome|Ramsay Hunt Dentate Syndrome|Spinodentate Atrophy Genetic disease (inborn)|Nervous system disease Myoclonic dystonia MESH:C536096 DO:DOID:0090033|OMIM:159900|OMIM:616398 MESH:D020821 C10.228.662.300/C536096 C10.228.662.300 Alcohol-Responsive Dystonia|Dystonia 11|DYSTONIA 11, MYOCLONIC|DYSTONIA 26, MYOCLONIC|Dystonia, Alcohol-Responsive|DYT11|DYT26|Hereditary essential myoclonus|MYOCLONIC DYSTONIA|Myoclonus-Dystonia|Myoclonus-dystonia syndrome|Myoclonus, hereditary essential Nervous system disease Myoclonic Epilepsies, Progressive MESH:D020191 DO:DOID:0060162|DO:DOID:0111444|DO:DOID:891|OMIM:125370|OMIM:614018|OMIM:615369|OMIM:616187|OMIM:616230|OMIM:616540|OMIM:616640 A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME. MESH:D004831 C10.228.140.490.375.130.650|C10.228.140.490.493.063.650 C10.228.140.490.375.130|C10.228.140.490.493.063 Action Myoclonus Renal Failure Syndrome|Action Myoclonus-Renal Failure Syndrome|Ataxia, Chorea, Seizures, And Dementia|Atrophies, Dentatorubral-Pallidoluysian|Atrophy, Dentatorubral-Pallidoluysian|Atypical Inclusion Body Disease|Atypical Inclusion-Body Disease|Atypical Inclusion-Body Diseases|Biotin-Responsive Encephalopathies|Biotin Responsive Encephalopathy|Biotin-Responsive Encephalopathy|DEE94|Dentatorubral-Pallidoluysian Atrophies|Dentatorubral Pallidoluysian Atrophy|Dentatorubral-Pallidoluysian Atrophy|DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94|DRPLA|EEOC|Encephalopathies, Biotin-Responsive|Encephalopathy, Biotin-Responsive|Epilepsies, Progressive Myoclonic|Epilepsies, Progressive Myoclonus|Epilepsy, Progressive Myoclonic|EPILEPSY, PROGRESSIVE MYOCLONIC, 10|EPILEPSY, PROGRESSIVE MYOCLONIC, 6|EPILEPSY, PROGRESSIVE MYOCLONIC 7|EPILEPSY, PROGRESSIVE MYOCLONIC, 8|EPILEPSY, PROGRESSIVE MYOCLONIC, 9|Epilepsy, Progressive Myoclonus|EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET|EPM10|EPM6|EPM7|EPM8|EPM9|Familial Progressive Myoclonic Epilepsy|Haw River Syndrome|Haw River Syndromes|HRS|Inclusion-Body Disease, Atypical|Inclusion-Body Diseases, Atypical|May White Syndrome|May-White Syndrome|Myoclonic Epilepsy, Progressive|MYOCLONIC EPILEPSY WITH CHOREOATHETOSIS|Myoclonus Epilepsies, Progressive|Myoclonus Nephropathy Syndrome|Myoclonus-Nephropathy Syndrome|Myoclonus-Nephropathy Syndromes|Naito Oyanagi Disease|Naito-Oyanagi Disease|Naito-Oyanagi Diseases|NOD|Progressive Myoclonic Epilepsies|Progressive Myoclonic Epilepsy|Progressive Myoclonus Epilepsies|Progressive Myoclonus Epilepsy|River Syndromes, Haw|Syndromes, Myoclonus-Nephropathy Nervous system disease Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders MESH:C565786 MESH:D001523|MESH:D003638|MESH:D004831|MESH:D008268 C09.218.458.341.186/C565786|C10.228.140.490.375.130/C565786|C10.228.140.490.493.063/C565786|C10.597.751.418.341.186/C565786|C11.768.585.439/C565786|C23.888.592.763.393.341.186/C565786|F03/C565786 C09.218.458.341.186|C10.228.140.490.375.130|C10.228.140.490.493.063|C10.597.751.418.341.186|C11.768.585.439|C23.888.592.763.393.341.186|F03 Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms MYOCLONIC EPILEPSY, FAMILIAL INFANTILE OMIM:605021 MESH:D004831 C10.228.140.490.375.130/605021|C10.228.140.490.493.063/605021 C10.228.140.490.375.130|C10.228.140.490.493.063 EIM|FIME Nervous system disease Myoclonic Epilepsy, Hartung Type MESH:C563550 MESH:D004831 C10.228.140.490.375.130/C563550|C10.228.140.490.493.063/C563550 C10.228.140.490.375.130|C10.228.140.490.493.063 Nervous system disease Myoclonic Epilepsy, Juvenile MESH:D020190 DO:DOID:4890|OMIM:254770|OMIM:604827|OMIM:608816|OMIM:611136|OMIM:611364 A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323) MESH:D004831 C10.228.140.490.375.130.670|C10.228.140.490.493.063.670 C10.228.140.490.375.130|C10.228.140.490.493.063 Adolescent Myoclonic Epilepsy|ECA4, INCLUDED|EIG13|EIG7|EJM|EJM1, INCLUDED|EJM2, INCLUDED|EJM3|EJM4|EJM5,|EJM5, INCLUDED|Epilepsy, Adolescent Myoclonic|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4, INCLUDED|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7|Epilepsy, Juvenile Myoclonic|EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5, INCLUDED|Epilepsy, Myoclonic Juvenile|Epilepsy, Myoclonic, Juvenile|Impulsive Petit Mal Epilepsy|Impulsive Petit Mal, Janz|Janz Impulsive Petit Mal|Janz Juvenile Myoclonic Epilepsy|Janz Syndrome|JANZ SYNDROME MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1, INCLUDED|JME|JME (Juvenile Myoclonic Epilepsy)|JMEs (Juvenile Myoclonic Epilepsy)|Juvenile Epilepsy, Myoclonic|Juvenile Myoclonic Epilepsy|Juvenile Myoclonic Epilepsy of Janz|Myoclonic Epilepsy, Adolescent|MYOCLONIC EPILEPSY, JUVENILE|Myoclonic Epilepsy, Juvenile, 1|MYOCLONIC EPILEPSY, JUVENILE, 2, INCLUDED|MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3|MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4|Myoclonic Juvenile Epilepsy|Petit Mal, Impulsive|Petit Mal, Impulsive, Janz Nervous system disease Myoclonic epilepsy with choreoathetosis MESH:C538427 MESH:D020191 C10.228.140.490.375.130.650/C538427|C10.228.140.490.493.063.650/C538427 C10.228.140.490.375.130.650|C10.228.140.490.493.063.650 Nervous system disease Myoclonus MESH:D009207 Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3). MESH:D020820 C10.597.350.500|C23.888.592.350.500 C10.597.350|C23.888.592.350 Action Myoclonus|Extremity Myoclonus, Lower|Extremity Myoclonus, Upper|Eyelid Myoclonus|Intention Myoclonus|Jerking, Myoclonic|Jerk, Myoclonic|Jerks, Myoclonic|Lower Extremity Myoclonus|Myoclonic Jerk|Myoclonic Jerking|Myoclonic Jerks|Myoclonus, Action|Myoclonus, Eyelid|Myoclonus, Intention|Myoclonus, Lower Extremity|Myoclonus, Nocturnal|Myoclonus, Oculopalatal|Myoclonus, Palatal|Myoclonus, Segmental|Myoclonus Simplex|Myoclonus, Sleep|Myoclonus, Upper Extremity|Nocturnal Myoclonus|Oculopalatal Myoclonus|Palatal Myoclonus|Polymyoclonus|Segmental Myoclonus|Simplex, Myoclonus|Sleep Myoclonus|Upper Extremity Myoclonus Nervous system disease|Signs and symptoms Myoclonus, Cerebellar Ataxia, and Deafness MESH:C563549 MESH:D002524|MESH:D003638|MESH:D009207 C09.218.458.341.186/C563549|C10.228.140.252.190/C563549|C10.597.350.090.500/C563549|C10.597.350.500/C563549|C10.597.751.418.341.186/C563549|C23.888.592.350.090.200/C563549|C23.888.592.350.500/C563549|C23.888.592.763.393.341.186/C563549 C09.218.458.341.186|C10.228.140.252.190|C10.597.350.090.500|C10.597.350.500|C10.597.751.418.341.186|C23.888.592.350.090.200|C23.888.592.350.500|C23.888.592.763.393.341.186 Ear-nose-throat disease|Nervous system disease|Signs and symptoms MYOCLONUS, FAMILIAL, 1 OMIM:614937 MESH:D009207 C10.597.350.500/614937|C23.888.592.350.500/614937 C10.597.350.500|C23.888.592.350.500 FCM|MYOCL1|MYOCLONUS, FAMILIAL CORTICAL Nervous system disease|Signs and symptoms MYOCLONUS, INTRACTABLE, NEONATAL OMIM:617235 MESH:D009207 C10.597.350.500/617235|C23.888.592.350.500/617235 C10.597.350.500|C23.888.592.350.500 NEIMY Nervous system disease|Signs and symptoms Myoepithelioma MESH:D009208 DO:DOID:2661 A usually benign tumor made up predominantly of myoepithelial cells. MESH:D018193 C04.557.435.585 C04.557.435 Myoepithelial Tumor|Myoepithelial Tumors|Myoepitheliomas|Tumor, Myoepithelial|Tumors, Myoepithelial Cancer Myofascial Pain Syndromes MESH:D009209 DO:DOID:431 Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME. MESH:D009135 C05.651.550 C05.651 Myofascial Pain Syndrome|Myofascial Trigger Point Pain|Pain Syndrome, Myofascial|Pain Syndromes, Myofascial|Syndrome, Myofascial Pain|Syndromes, Myofascial Pain|Trigger Point Pain, Myofascial Musculoskeletal disease Myofibrillar Myopathy MESH:C580316 DO:DOID:0080307|OMIM:601419|OMIM:609452|OMIM:612954|OMIM:617114|OMIM:617258 MESH:D020914 C05.651.575/C580316|C10.668.491.550/C580316 C05.651.575|C10.668.491.550 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 7, FORMERLY|ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7, FORMERLY|ARVC7, FORMERLY|ARVD7, FORMERLY|CARDIOMYOPATHY, DILATED, 1F AND LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D, FORMERLY|CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT AND MUSCULAR DYSTROPHY|CDCD3, FORMERLY|CMD1F AND LGMD1D, FORMERLY|DESMINOPATHY, PRIMARY|DESMIN-RELATED MYOPATHY|DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY|DRM|IBM1, FORMERLY|INCLUSION BODY MYOPATHY 1, AUTOSOMAL DOMINANT, FORMERLY|LGMD2R, FORMERLY|MARKESBERY-GRIGGS DISTAL MYOPATHY|MFM1|MFM4|MFM6|MFM7|MFM8|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, FORMERLY|Myofibrillar Myopathies|MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY|MYOPATHY, MYOFIBRILLAR, 1|MYOPATHY, MYOFIBRILLAR, 4|MYOPATHY, MYOFIBRILLAR, 6|MYOPATHY, MYOFIBRILLAR, 7|MYOPATHY, MYOFIBRILLAR, 8|MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED Musculoskeletal disease|Nervous system disease Myofibroma MESH:D047708 DO:DOID:4386 A benign tumor that consists chiefly of fibrous CONNECTIVE TISSUE, with variable numbers of MUSCLE CELLS forming portions of the neoplasm (From Stedman's, 27th ed). MESH:D009372 C04.557.450.565.540|C17.300.680.540 C04.557.450.565|C17.300.680 Myofibromas Cancer|Connective tissue disease Myofibromatosis MESH:D018224 A condition characterized by multiple formations of myofibromas (LEIOMYOMA). MESH:D018218 C04.557.450.565.590.550 C04.557.450.565.590 Myofibromatoses Cancer Myoglobinuria MESH:D009212 DO:DOID:0080108 The presence of MYOGLOBIN in URINE usually as a result of rhabdomyolysis. MESH:D012206 C05.651.807.628 C05.651.807 Myoglobinurias Musculoskeletal disease Myoglobinuria, Acute Recurrent, Autosomal Recessive MESH:C564832 OMIM:268200 MESH:D009212 C05.651.807.628/C564832 C05.651.807.628 Myoglobinuria, Familial Paroxysmal Paralytic|Rhabdomyolysis, Acute Recurrent Musculoskeletal disease Myoglobinuria, Autosomal Dominant MESH:C563546 MESH:D009212 C05.651.807.628/C563546 C05.651.807.628 Musculoskeletal disease Myoglobinuria, Recurrent MESH:C564018 MESH:D009212 C05.651.807.628/C564018 C05.651.807.628 Musculoskeletal disease Myokymia MESH:D020385 Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. (Adams et al., Principles of Neurology, 6th ed, p1491) MESH:D020879 C10.597.613.650|C23.888.592.608.650 C10.597.613|C23.888.592.608 Chorea, Fibrillary|Chorea, Morvan|Chorea, Morvan's|Chorea, Morvan's Fibrillary|Choreas, Fibrillary|Choreas, Morvan|Choreas, Morvan's|Fibrillary Chorea|Fibrillary Chorea, Morvan's|Fibrillary Choreas|Generalized Myokymia|Generalized Myokymias|Kymatism|Kymatisms|Morvan Chorea|Morvan Choreas|Morvan Fibrillary Chorea|Morvan's Chorea|Morvans Chorea|Morvan's Choreas|Morvan's Fibrillary Chorea|Morvans Fibrillary Chorea|Myokymia, Generalized|Myokymias|Myokymias, Generalized Nervous system disease|Signs and symptoms Myokymia 1 MESH:C567174 MESH:D001259 C10.597.350.090/C567174|C23.888.592.350.090/C567174 C10.597.350.090|C23.888.592.350.090 Nervous system disease|Signs and symptoms Myokymia with neonatal epilepsy MESH:C536099 MESH:D020385|MESH:D020936 C10.228.140.490.370/C536099|C10.597.613.650/C536099|C16.614.258/C536099|C23.888.592.608.650/C536099 C10.228.140.490.370|C10.597.613.650|C16.614.258|C23.888.592.608.650 BFNC-Myokymia syndrome|Convulsions, benign familial neonatal with Myokymia|Epilepsy, benign neonatal, with Myokymia Infant-newborn disease|Nervous system disease|Signs and symptoms Myoma MESH:D009214 DO:DOID:2691 A benign neoplasm of muscular tissue. (Stedman, 25th ed) MESH:D009379 C04.557.450.590.540 C04.557.450.590 Myomas Cancer Myopathic carnitine deficiency MESH:C536100 MESH:D009135 C05.651/C536100|C10.668.491/C536100 C05.651|C10.668.491 Carnitine Deficiency, Myopathic Musculoskeletal disease|Nervous system disease Myopathies, Nemaline MESH:D017696 DO:DOID:3191 A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453) MESH:D020914 C05.651.575.290|C10.668.491.550.290 C05.651.575|C10.668.491.550 Adult Onset Nemaline Myopathy|Autosomal Dominant Nemaline Myopathy|Autosomal Recessive Nemaline Myopathy|Childhood Onset Nemaline Myopathy|Late Onset Nemaline Myopathy|Myopathies, Rod|Myopathies, Rod-Body|Myopathy, Nemaline|Myopathy, Rod|Myopathy, Rod Body|Myopathy, Rod-Body|Nemaline Body Disease|Nemaline Myopathies|Nemaline Myopathy|Nemaline Myopathy, Adult Onset|Nemaline Myopathy, Autosomal Dominant|Nemaline Myopathy, Autosomal Recessive|Nemaline Myopathy, Childhood Onset|Nemaline Myopathy, Late Onset|Nemaline Rod Disease|Rod Body Disease|Rod-Body Myopathies|Rod Body Myopathy|Rod-Body Myopathy|Rod Myopathies|Rod Myopathy Musculoskeletal disease|Nervous system disease Myopathies, Structural, Congenital MESH:D020914 DO:DOID:0111217|DO:DOID:0111225|DO:DOID:14717|DO:DOID:422|OMIM:160150|OMIM:160565|OMIM:255310|OMIM:310400|OMIM:614807|OMIM:615883 A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality. MESH:D009135 C05.651.575|C10.668.491.550 C05.651|C10.668.491 Aggregate Myopathies, Tubular|Aggregate Myopathy, Tubular|Autosomal Dominant Myotubular Myopathy|Autosomal Recessive Centronuclear Myopathy|CAPM1, FORMERLY|CAP MYOPATHY 1, FORMERLY|Centronuclear Myopathies|Centronuclear Myopathies, X-Linked|Centronuclear Myopathy|Centronuclear Myopathy, X-Linked|CFTD|CFTDM|CMYP4A|CNM1|CNM4|CNMX|Congenital Fiber Type Disproportion|Congenital Fiber-Type Disproportion|Congenital Fiber-Type Disproportions|CONGENITAL MYOPATHY 4A, AUTOSOMAL DOMINANT|Congenital Myopathy with Fiber Type Disproportion|Congenital Non Progressive Myopathies|Congenital Non-Progressive Myopathies|Congenital Non-Progressive Myopathy|Congenital Structural Myopathies|Congenital Structural Myopathy|Disproportion, Congenital Fiber-Type|Disproportions, Congenital Fiber-Type|Fiber-Type Disproportion, Congenital|Fiber Type Disproportion Myopathy, Congenital|Fiber-Type Disproportion Myopathy, Congenital|Fiber-Type Disproportions, Congenital|MTM1|MTMX|Myopathies, Centronuclear|Myopathies, Congenital Non-Progressive|Myopathies, Congenital Structural|Myopathies, Myotubular|Myopathies, Tubular Aggregate|Myopathies, X-Linked Centronuclear|Myopathies, X-Linked Myotubular|Myopathy, Centronuclear|Myopathy, Centronuclear, 1|MYOPATHY, CENTRONUCLEAR, 4|Myopathy, Centronuclear, Autosomal Dominant|MYOPATHY, CENTRONUCLEAR, X-LINKED|Myopathy, Congenital Non-Progressive|Myopathy, Congenital Structural|Myopathy, Congenital, With Fiber-Type Disproportion|Myopathy, Myotubular|Myopathy, Tubular Aggregate|MYOPATHY, TUBULAR AGGREGATE, 1|MYOPATHY, TUBULAR AGGREGATE, 2|Myopathy, X-Linked Centronuclear|Myopathy, X-Linked Myotubular|Myotubular Myopathies|Myotubular Myopathies, X-Linked|Myotubular Myopathy|Myotubular Myopathy 1|Myotubular Myopathy, Autosomal Dominant|Myotubular Myopathy, X Linked|Myotubular Myopathy, X-Linked|NEM1|NEMALINE MYOPATHY 1|Non Progressive Myopathies, Congenital|Non-Progressive Myopathies, Congenital|Non-Progressive Myopathy, Congenital|Structural Myopathies, Congenital|Structural Myopathy, Congenital|TAM|TAM1|TAM2|Tubular Aggregate Myopathies|Tubular Aggregate Myopathy|X-Linked Centronuclear Myopathies|X Linked Centronuclear Myopathy|X-Linked Centronuclear Myopathy|X-Linked Myotubular Myopathies|X Linked Myotubular Myopathy|X-Linked Myotubular Myopathy|XLMTM Musculoskeletal disease|Nervous system disease Myopathy, Actin, Congenital, with Excess of Thin Myofilaments MESH:C563529 DO:DOID:0060239 MESH:D017696 C05.651.575.290/C563529|C10.668.491.550.290/C563529 C05.651.575.290|C10.668.491.550.290 Musculoskeletal disease|Nervous system disease MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES OMIM:617072 DO:DOID:0110289 MESH:D049288 C05.651.534.500.280/617072|C10.668.491.175.500.149/617072|C16.320.577.280/617072 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 LGMD2Y|MRRSDC|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Y Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Myopathy, Cataract, Hypogonadism Syndrome MESH:C563578 MESH:D002386|MESH:D007006|MESH:D009135|MESH:D028361 C05.651/C563578|C10.668.491/C563578|C11.510.245/C563578|C18.452.660/C563578|C19.391.482/C563578 C05.651|C10.668.491|C11.510.245|C18.452.660|C19.391.482 Ocular Myopathy with Hypogonadism Endocrine system disease|Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease Myopathy, Central Core MESH:D020512 DO:DOID:3529|OMIM:117000 An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452) MESH:D020914 C05.651.575.300|C10.668.491.550.300 C05.651.575|C10.668.491.550 CCD|CCO|Central Core Disease|Central Core Disease of Muscle|Central Core Diseases|Central Core Myopathies|Central Core Myopathy|CMYP1A|CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA|Myopathies, Central Core|Shy Magee Syndrome|Shy-Magee Syndrome|Syndrome, Shy-Magee Musculoskeletal disease|Nervous system disease Myopathy, Centronuclear, Autosomal Recessive MESH:C562934 DO:DOID:0111220|OMIM:255200|OMIM:615959 MESH:D020914 C05.651.575/C562934|C10.668.491.550/C562934 C05.651.575|C10.668.491.550 CNM2|CNM5|MYOPATHY, CENTRONUCLEAR, 2|MYOPATHY, CENTRONUCLEAR, 5|MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE|Myotubular Myopathy, Autosomal Recessive Musculoskeletal disease|Nervous system disease Myopathy, Congenital, Compton-North MESH:C567261 OMIM:612540 MESH:D020294 C10.668.758.800/C567261|C16.320.590/C567261 C10.668.758.800|C16.320.590 CMYP12|CONGENITAL MYOPATHY 12|MYOPATHY, CONGENITAL, COMPTON-NORTH|MYPCN Genetic disease (inborn)|Nervous system disease Myopathy, congenital nonprogressive with Moebius and Robin sequences MESH:C536102 MESH:D009135|MESH:D010855|MESH:D020331 C05.500.460.606/C536102|C05.651/C536102|C05.660.207.540.460.606/C536102|C07.320.440.606/C536102|C07.465.299.825/C536102|C07.650.500.460.606/C536102|C10.292.319.825/C536102|C10.292.562.700.375.750/C536102|C10.668.491/C536102|C11.590.436.400.750/C536102|C16.131.077.578/C536102|C16.131.621.207.540.460.606/C536102|C16.131.850.500.460.606/C536102|C16.614.595/C536102 C05.500.460.606|C05.651|C05.660.207.540.460.606|C07.320.440.606|C07.465.299.825|C07.650.500.460.606|C10.292.319.825|C10.292.562.700.375.750|C10.668.491|C11.590.436.400.750|C16.131.077.578|C16.131.621.207.540.460.606|C16.131.850.500.460.606|C16.614.595 Carey Fineman Ziter syndrome|Carey-Fineman-Ziter Syndrome|Congenital nonprogressive myopathy with Moebius and Robin sequence|Moebius sequence, Robin complex, and hypotonia|Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence Congenital abnormality|Eye disease|Infant-newborn disease|Mouth disease|Musculoskeletal disease|Nervous system disease Myopathy, Congenital, With Excess Of Muscle Spindles MESH:C566896 MESH:D009135 C05.651/C566896|C10.668.491/C566896 C05.651|C10.668.491 Musculoskeletal disease|Nervous system disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked MESH:C567594 OMIM:300580 MESH:D020914 C05.651.575/C567594|C10.668.491.550/C567594 C05.651.575|C10.668.491.550 CFTDX Musculoskeletal disease|Nervous system disease Myopathy, desmin storage MESH:C536103 MESH:D018979 C05.651.594.600/C536103|C10.668.491.562.500/C536103 C05.651.594.600|C10.668.491.562.500 Cardiomyopathy due to desmin defect|Desmin storage myopathy|Myopathy with sarcoplasmic bodies and intermediate filaments Musculoskeletal disease|Nervous system disease Myopathy, Distal 2 MESH:C565262 OMIM:606070 MESH:D007818|MESH:D010608|MESH:D049310 C05.651.534.500.074/C565262|C07.550/C565262|C08.360/C565262|C09.400/C565262|C09.775/C565262|C10.668.491.175.500.074/C565262|C16.320.577.074/C565262 C05.651.534.500.074|C07.550|C08.360|C09.400|C09.775|C10.668.491.175.500.074|C16.320.577.074 ALS21|AMYOTROPHIC LATERAL SCLEROSIS 21|Distal Myopathy with Vocal Cord and Pharyngeal Signs|Distal Myopathy with Vocal Cord Weakness|Matrin 3 Distal Myopathy|Mpd2|MPD2, FORMERLY|MSP5|MULTISYSTEM PROTEINOPATHY 5|Myopathia Distalis Type 2|MYOPATHY, DISTAL, 2, FORMERLY|VCPDM|VCPDM, FORMERLY|Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy|VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY|Vocal Cord and Pharyngeal Weakness with Distal Myopathy Ear-nose-throat disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Nervous system disease|Respiratory tract disease Myopathy, Distal 3 MESH:C566445 OMIM:610099 MESH:D049310 C05.651.534.500.074/C566445|C10.668.491.175.500.074/C566445|C16.320.577.074/C566445 C05.651.534.500.074|C10.668.491.175.500.074|C16.320.577.074 MPD3|MYOPATHY, DISTAL, 3 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MYOPATHY, DISTAL, 4 OMIM:614065 DO:DOID:0111190 MESH:D049310 C05.651.534.500.074/614065|C10.668.491.175.500.074/614065|C16.320.577.074/614065 C05.651.534.500.074|C10.668.491.175.500.074|C16.320.577.074 MPD4|WILLIAMS DISTAL MYOPATHY Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MYOPATHY, DISTAL, 5 OMIM:617030 MESH:D049310 C05.651.534.500.074/617030|C10.668.491.175.500.074/617030|C16.320.577.074/617030 C05.651.534.500.074|C10.668.491.175.500.074|C16.320.577.074 MPD5 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MYOPATHY, DISTAL, TATEYAMA TYPE OMIM:614321 DO:DOID:0111191 MESH:D049310 C05.651.534.500.074/614321|C10.668.491.175.500.074/614321|C16.320.577.074/614321 C05.651.534.500.074|C10.668.491.175.500.074|C16.320.577.074 MPDT Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Myopathy, Distal, with Anterior Tibial Onset MESH:C564664 OMIM:606768 MESH:D049310 C05.651.534.500.074/C564664|C10.668.491.175.500.074/C564664|C16.320.577.074/C564664 C05.651.534.500.074|C10.668.491.175.500.074|C16.320.577.074 DMAT Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Myopathy, Distal, with Onset in Infancy MESH:C563543 MESH:D049310 C05.651.534.500.074/C563543|C10.668.491.175.500.074/C563543|C16.320.577.074/C563543 C05.651.534.500.074|C10.668.491.175.500.074|C16.320.577.074 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Myopathy due to Malate-Aspartate Shuttle Defect MESH:C564973 MESH:D000592|MESH:D009135 C05.651/C564973|C10.668.491/C564973|C16.320.565.100/C564973|C18.452.648.100/C564973 C05.651|C10.668.491|C16.320.565.100|C18.452.648.100 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY OMIM:615511 MESH:C538234|MESH:D009135 C05.651/615511|C10.668.491/615511|C16.320.565.798/C538234/615511|C18.452.648.798/C538234/615511 C05.651|C10.668.491|C16.320.565.798/C538234|C18.452.648.798/C538234 ADENOSINE MONOPHOSPHATE DEAMINASE-1 DEFICIENCY, MYOPATHY DUE TO|AMPD1 DEFICIENCY|MMDD|MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Myopathy, Early-Onset, with Fatal Cardiomyopathy MESH:C567129 OMIM:611705 MESH:D009135|MESH:D009202 C05.651/C567129|C10.668.491/C567129|C14.280.238/C567129 C05.651|C10.668.491|C14.280.238 CMYP5|CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY|Early-Onset Myopathy with Fatal Cardiomyopathy|EOMFC|MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY|Salih Cmd|Salih Congenital Muscular Dystrophy|Salih Myopathy|SALMY Cardiovascular disease|Musculoskeletal disease|Nervous system disease Myopathy, Granulovacuolar Lobular, with Electrical Myotonia MESH:C564974 MESH:D009135|MESH:D009222 C05.651/C564974|C10.597.613.700/C564974|C10.668.491/C564974|C23.888.592.608.700/C564974 C05.651|C10.597.613.700|C10.668.491|C23.888.592.608.700 Musculoskeletal disease|Nervous system disease|Signs and symptoms Myopathy, Hyaline Body, Autosomal Recessive MESH:C564970 OMIM:255160 MESH:D009135 C05.651/C564970|C10.668.491/C564970 C05.651|C10.668.491 CMYP7B|CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE|MSMB|MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE|MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE Musculoskeletal disease|Nervous system disease MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT OMIM:616209 DO:DOID:0081357 MESH:D017240 C05.651.460/616209|C10.668.491.500/616209|C18.452.660.560/616209 C05.651.460|C10.668.491.500|C18.452.660.560 IMMD Metabolic disease|Musculoskeletal disease|Nervous system disease Myopathy, limb-girdle, with bone fragility MESH:C536104 MESH:D049288 C05.651.534.500.280/C536104|C10.668.491.175.500.149/C536104|C16.320.577.280/C536104 C05.651.534.500.280|C10.668.491.175.500.149|C16.320.577.280 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Myopathy, Mitochondrial, Lethal Infantile MESH:C564017 OMIM:551000 MESH:D017240 C05.651.460/C564017|C10.668.491.500/C564017|C18.452.660.560/C564017 C05.651.460|C10.668.491.500|C18.452.660.560 LIMM|MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE Metabolic disease|Musculoskeletal disease|Nervous system disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay MESH:C567769 OMIM:613076 MESH:D002386|MESH:D002658|MESH:D017240|MESH:D034381 C05.651.460/C567769|C09.218.458.341/C567769|C10.597.751.418.341/C567769|C10.668.491.500/C567769|C11.510.245/C567769|C18.452.660.560/C567769|C23.888.592.763.393.341/C567769|F03.625.421/C567769 C05.651.460|C09.218.458.341|C10.597.751.418.341|C10.668.491.500|C11.510.245|C18.452.660.560|C23.888.592.763.393.341|F03.625.421 Mitochondrial Complex Deficiency, Combined|MPMCD|MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY|Myopathy With Cataract And Combined Respiratory Chain Deficiency Ear-nose-throat disease|Eye disease|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms MYOPATHY, MYOFIBRILLAR, 3 OMIM:609200 DO:DOID:0080094 MESH:C563775|MESH:C580316 C05.651.575/C563775/609200|C05.651.575/C580316/609200|C10.668.491.550/C563775/609200|C10.668.491.550/C580316/609200 C05.651.575/C563775|C05.651.575/C580316|C10.668.491.550/C563775|C10.668.491.550/C580316 LGMD1A, FORMERLY|LGMD1, FORMERLY|MFM3|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, FORMERLY|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1, FORMERLY|MYOPATHY, MYOFIBRILLAR, MYOTILIN-RELATED|MYOPATHY, SPHEROID BODY|MYOTILINOPATHY Musculoskeletal disease|Nervous system disease Myopathy, Myofibrillar, Bag3-Related MESH:C567843 MESH:D020914 C05.651.575/C567843|C10.668.491.550/C567843 C05.651.575|C10.668.491.550 Musculoskeletal disease|Nervous system disease Myopathy, Myofibrillar, Desmin-Related MESH:C563319 MESH:D009136|MESH:D009202 C05.651.534.500/C563319|C10.668.491.175.500/C563319|C14.280.238/C563319|C16.320.577/C563319 C05.651.534.500|C10.668.491.175.500|C14.280.238|C16.320.577 Desminopathy, Primary|Desmin-Related Myopathy|Mfm, Desmin-Related Myofibrillar Myopathy, Desmin-Related|Myopathy, Desmin-Related Cardiovascular disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED OMIM:613869 DO:DOID:0080309 MESH:C563848|MESH:C580316|MESH:D009122 C05.651.575/C580316/613869|C05.651/C563848/613869|C10.597.613.550/613869|C10.668.491.550/C580316/613869|C10.668.491/C563848/613869|C11.510.245/C563848/613869|C14.280.238/C563848/613869|C23.888.592.608.550/613869 C05.651.575/C580316|C05.651/C563848|C10.597.613.550|C10.668.491.550/C580316|C10.668.491/C563848|C11.510.245/C563848|C14.280.238/C563848|C23.888.592.608.550 MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED Cardiovascular disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Myopathy, Myofibrillar, Zasp-Related MESH:C563718 MESH:D009136 C05.651.534.500/C563718|C10.668.491.175.500/C563718|C16.320.577/C563718 C05.651.534.500|C10.668.491.175.500|C16.320.577 MFM, Zasp-related Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Myopathy, Myosin Storage MESH:C564253 MESH:D009135 C05.651/C564253|C10.668.491/C564253 C05.651|C10.668.491 Myopathy, Hyaline Body, Autosomal Dominant Musculoskeletal disease|Nervous system disease Myopathy, Reducing Body, X-Linked, Childhood-Onset MESH:C567468 OMIM:300718 MESH:D009135|MESH:D040181 C05.651/C567468|C10.668.491/C567468|C16.320.322/C567468 C05.651|C10.668.491|C16.320.322 RBMX1B|REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe MESH:C567469 OMIM:300717 MESH:D009135|MESH:D040181 C05.651/C567469|C10.668.491/C567469|C16.320.322/C567469 C05.651|C10.668.491|C16.320.322 RBMX1A|REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MYOPATHY, SCAPULOHUMEROPERONEAL OMIM:616852 MESH:D009136 C05.651.534.500/616852|C10.668.491.175.500/616852|C16.320.577/616852 C05.651.534.500|C10.668.491.175.500|C16.320.577 SHPM Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES OMIM:616231 MESH:C536522 C05.651/C536522/616231|C10.668.491/C536522/616231|C16.320.565.595/C536522/616231|C18.452.648.595/C536522/616231 C05.651/C536522|C10.668.491/C536522|C16.320.565.595/C536522|C18.452.648.595/C536522 VMCQA Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Myopathy with Abnormal Lipid Metabolism MESH:C562935 OMIM:255100 MESH:D008052|MESH:D009136 C05.651.534.500/C562935|C10.668.491.175.500/C562935|C16.320.565.398/C562935|C16.320.577/C562935|C18.452.584.563/C562935|C18.452.648.398/C562935 C05.651.534.500|C10.668.491.175.500|C16.320.565.398|C16.320.577|C18.452.584.563|C18.452.648.398 Lipid Storage Myopathy|LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY|LSMFLAD Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease MYOPATHY WITH EXTRAPYRAMIDAL SIGNS OMIM:615673 DO:DOID:0111335 MESH:D018908 C05.651.515/615673|C10.597.613.593/615673|C23.550.695/615673|C23.888.592.608.593/615673 C05.651.515|C10.597.613.593|C23.550.695|C23.888.592.608.593 MPXPS Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Myopathy with Giant Abnormal Mitochondria MESH:C564971 MESH:D009135|MESH:D028361 C05.651/C564971|C10.668.491/C564971|C18.452.660/C564971 C05.651|C10.668.491|C18.452.660 Metabolic disease|Musculoskeletal disease|Nervous system disease Myopathy with lactic acidosis and sideroblastic anemia MESH:C536101 OMIM:600462|OMIM:613561 MESH:D017241 C05.651.460.620.520/C536101|C10.228.140.163.100.535/C536101|C10.228.140.300.275.500/C536101|C10.668.491.500.500.500/C536101|C14.907.253.329.500/C536101|C16.320.565.189.535/C536101|C18.452.132.100.535/C536101|C18.452.648.189.535/C536101|C18.452.660.560.620.520/C536101 C05.651.460.620.520|C10.228.140.163.100.535|C10.228.140.300.275.500|C10.668.491.500.500.500|C14.907.253.329.500|C16.320.565.189.535|C18.452.132.100.535|C18.452.648.189.535|C18.452.660.560.620.520 Mitochondrial myopathy and sideroblastic anemia|MLASA|MLASA1|MLASA2|MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1|MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Myopathy with Lactic Acidosis, Hereditary MESH:C564972 OMIM:255125 MESH:D000140|MESH:D009135 C05.651/C564972|C10.668.491/C564972|C18.452.076.176.180/C564972 C05.651|C10.668.491|C18.452.076.176.180 Hereditary Myopathy with Lactic Acidosis|HML|Iron-Sulfur Cluster Deficiency Myopathy|Myoglobinuria due to Abnormal Glycolysis|Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme|Myopathy with Deficiency of ISCU|Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase|Myopathy with Exercise Intolerance, Swedish Type Metabolic disease|Musculoskeletal disease|Nervous system disease Myopathy with Storage of Glycoproteins and Glycosaminoglycans MESH:C563542 MESH:D002239|MESH:D020391 C05.651.534.500.400/C563542|C10.668.491.175.500.400/C563542|C16.320.565.202/C563542|C16.320.577.400/C563542|C18.452.648.202/C563542 C05.651.534.500.400|C10.668.491.175.500.400|C16.320.565.202|C16.320.577.400|C18.452.648.202 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Myopathy, X-Linked, with Excessive Autophagy MESH:C564093 OMIM:310440 MESH:D009135|MESH:D040181 C05.651/C564093|C10.668.491/C564093|C16.320.322/C564093 C05.651|C10.668.491|C16.320.322 MEAX|XMEA Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Myopericytoma MESH:D000077777 Rare myofibroma-like perivascular soft tissue tumor, usually benign, characterized by concentric perivascular proliferation. MESH:D006393|MESH:D009372 C04.557.450.565.545|C04.557.645.380.500|C17.300.680.770 C04.557.450.565|C04.557.645.380|C17.300.680 Myopericytomas Cancer|Connective tissue disease Myopia MESH:D009216 DO:DOID:11830|OMIM:608367 A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. MESH:D012030 C11.744.636 C11.744 MYOPIA 17, AUTOSOMAL DOMINANT|MYOPIA 4, FORMERLY|Myopias|MYP17|MYP4, FORMERLY|Nearsightedness|Nearsightednesses Eye disease Myopia 1 MESH:C564091 OMIM:310460 MESH:D009216|MESH:D040181 C11.744.636/C564091|C16.320.322/C564091 C11.744.636|C16.320.322 MYOPIA 1, X-LINKED|Myopia, X-Linked|MYP1 Eye disease|Genetic disease (inborn) Myopia 10 MESH:C563758 OMIM:609259 MESH:D009216 C11.744.636/C563758 C11.744.636 MYP10 Eye disease Myopia 11 MESH:C566490 OMIM:609994 MESH:D009216 C11.744.636/C566490 C11.744.636 MYOPIA 11, AUTOSOMAL DOMINANT|MYP11 Eye disease Myopia 12 MESH:C566489 OMIM:609995 MESH:D009216 C11.744.636/C566489 C11.744.636 MYOPIA 12, AUTOSOMAL DOMINANT|MYP12 Eye disease Myopia 13 MESH:C564473 OMIM:300613 MESH:D009216|MESH:D040181 C11.744.636/C564473|C16.320.322/C564473 C11.744.636|C16.320.322 MYOPIA 13, X-LINKED|MYP13 Eye disease|Genetic disease (inborn) Myopia 14 MESH:C565202 OMIM:610320 MESH:D009216 C11.744.636/C565202 C11.744.636 MYP14 Eye disease Myopia 15 MESH:C567193 OMIM:612717 MESH:D009216 C11.744.636/C567193 C11.744.636 MYOPIA 15, AUTOSOMAL DOMINANT|MYP15 Eye disease Myopia 16 MESH:C567259 OMIM:612554 MESH:D009216 C11.744.636/C567259 C11.744.636 MYOPIA 16, AUTOSOMAL DOMINANT|MYP16 Eye disease Myopia 18, Autosomal Recessive MESH:C567606 OMIM:255500 MESH:D009216 C11.744.636/C567606 C11.744.636 Myopia 18|MYP18 Eye disease MYOPIA 19, AUTOSOMAL DOMINANT OMIM:613969 DO:DOID:11830 MESH:D009216 C11.744.636/613969 C11.744.636 MYP19 Eye disease Myopia 2 MESH:C563541 OMIM:160700 MESH:D009216 C11.744.636/C563541 C11.744.636 MYOPIA 2, AUTOSOMAL DOMINANT|MYP2 Eye disease MYOPIA 20, AUTOSOMAL DOMINANT OMIM:614166 DO:DOID:11830 MESH:D009216 C11.744.636/614166 C11.744.636 MYP20 Eye disease MYOPIA 21, AUTOSOMAL DOMINANT OMIM:614167 DO:DOID:11830 MESH:D009216 C11.744.636/614167 C11.744.636 MYP21 Eye disease MYOPIA 22, AUTOSOMAL DOMINANT OMIM:615420 DO:DOID:11830 MESH:D009216 C11.744.636/615420 C11.744.636 MYP22 Eye disease MYOPIA 23, AUTOSOMAL RECESSIVE OMIM:615431 DO:DOID:11830 MESH:D009216 C11.744.636/615431 C11.744.636 MYP23 Eye disease MYOPIA 24, AUTOSOMAL DOMINANT OMIM:615946 DO:DOID:11830 MESH:D009216 C11.744.636/615946 C11.744.636 MYP24 Eye disease MYOPIA 25, AUTOSOMAL DOMINANT OMIM:617238 MESH:D009216 C11.744.636/617238 C11.744.636 MYP25 Eye disease Myopia 3 MESH:C566397 OMIM:603221 MESH:D009216 C11.744.636/C566397 C11.744.636 MYOPIA 3, AUTOSOMAL DOMINANT|MYP3 Eye disease Myopia 5 MESH:C563922 OMIM:608474 MESH:D009216 C11.744.636/C563922 C11.744.636 MYOPIA 5, AUTOSOMAL DOMINANT|MYP5 Eye disease Myopia 6 MESH:C536105 OMIM:608908 MESH:D009216 C11.744.636/C536105 C11.744.636 Myopia, susceptibility to|MYP6 Eye disease Myopia 7 MESH:C563761 OMIM:609256 MESH:D009216 C11.744.636/C563761 C11.744.636 MYP7 Eye disease Myopia 8 MESH:C563760 OMIM:609257 MESH:D009216 C11.744.636/C563760 C11.744.636 MYP8 Eye disease Myopia 9 MESH:C563759 OMIM:609258 MESH:D009216 C11.744.636/C563759 C11.744.636 MYP9 Eye disease Myopia, Degenerative MESH:D047728 DO:DOID:11829 Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS. MESH:D009216 C11.744.636.500 C11.744.636 Degenerative Myopia|Degenerative Myopias|Myopia, Pathological|Myopia, Progressive|Myopias, Degenerative|Myopias, Pathological|Myopias, Progressive|Pathological Myopia|Pathological Myopias|Progressive Myopia|Progressive Myopias Eye disease MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION OMIM:614292 MESH:D002386|MESH:D009216|MESH:D012162 C11.270.612/614292|C11.510.245/614292|C11.744.636/614292|C11.768.585/614292 C11.270.612|C11.510.245|C11.744.636|C11.768.585 MCVD Eye disease Myosarcoma MESH:D009217 DO:DOID:4045 A general term for a malignant neoplasm derived from muscular tissue. (Stedman, 25th ed) MESH:D009379|MESH:D012509 C04.557.450.590.550|C04.557.450.795.550 C04.557.450.590|C04.557.450.795 Myosarcomas Cancer Myosclerosis, Autosomal Recessive MESH:C564968 OMIM:255600 MESH:D020914 C05.651.575/C564968|C10.668.491.550/C564968 C05.651.575|C10.668.491.550 Myopathy, Myosclerotic|Myosclerosis, Congenital, of Lowenthal Musculoskeletal disease|Nervous system disease Myositis MESH:D009220 DO:DOID:633 Inflammation of a muscle or muscle tissue. MESH:D009135 C05.651.594|C10.668.491.562 C05.651|C10.668.491 Focal Myositides|Focal Myositis|Idiopathic Inflammatory Myopathies|Idiopathic Inflammatory Myopathy|Idiopathic Inflammatory Myositis|Infectious Myositides|Infectious Myositis|Inflammatory Muscle Disease|Inflammatory Muscle Diseases|Inflammatory Myopathies|Inflammatory Myopathies, Idiopathic|Inflammatory Myopathy|Inflammatory Myopathy, Idiopathic|Muscle Disease, Inflammatory|Muscle Diseases, Inflammatory|Myopathies, Idiopathic Inflammatory|Myopathies, Inflammatory|Myopathy, Idiopathic Inflammatory|Myopathy, Inflammatory|Myositides|Myositides, Focal|Myositides, Infectious|Myositides, Proliferative|Myositis, Focal|Myositis, Infectious|Myositis, Proliferative|Proliferative Myositides|Proliferative Myositis Musculoskeletal disease|Nervous system disease Myositis, Inclusion Body MESH:D018979 DO:DOID:3429|OMIM:147421 Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10) MESH:D009220 C05.651.594.600|C10.668.491.562.500 C05.651.594|C10.668.491.562 IBM|Inclusion Body Myopathy, Sporadic|Inclusion Body Myositides|Inclusion Body Myositis|Inclusion Body Myositis, Sporadic|Myopathy, Inclusion Body, Sporadic|Myositides, Inclusion Body|Myositis, Inclusion Body, Sporadic|Sporadic Inclusion Body Myositis Musculoskeletal disease|Nervous system disease Myositis Ossificans MESH:D009221 DO:DOID:13374|DO:DOID:668|OMIM:135100 A disease characterized by bony deposits or the ossification of muscle tissue. MESH:D009220 C05.651.594.638 C05.651.594 Fibrodysplasia Ossificans Progressiva|FOP|Myositis Ossificans Progressiva|Progressive Myositis Ossificans|Progressive Ossifying Myositis Musculoskeletal disease Myostatin-related muscle hypertrophy MESH:C536106 DO:DOID:0111072 MESH:D006984|MESH:D009135 C05.651/C536106|C10.668.491/C536106|C23.300.775/C536106 C05.651|C10.668.491|C23.300.775 Muscle Hypertrophy Syndrome Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Myotilinopathy MESH:C563775 MESH:D020914 C05.651.575/C563775|C10.668.491.550/C563775 C05.651.575|C10.668.491.550 Myopathy, Myofibrillar, Myotilin-Related Musculoskeletal disease|Nervous system disease Myotonia MESH:D009222 Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS. MESH:D020879 C10.597.613.700|C23.888.592.608.700 C10.597.613|C23.888.592.608 Myotonia, Percussion|Myotonias|Myotonias, Percussion|Myotonic Phenomenon|Myotonic Phenomenons|Percussion Myotonia|Percussion Myotonias|Phenomenon, Myotonic|Phenomenons, Myotonic Nervous system disease|Signs and symptoms Myotonia Congenita MESH:D009224 DO:DOID:2106|OMIM:255300|OMIM:255700 Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders. MESH:D020271|MESH:D020967 C05.651.662.500|C10.574.500.545|C10.668.491.606.500|C16.320.400.540 C05.651.662|C10.574.500|C10.668.491.606|C16.320.400 Batten Turner Congenital Myopathy|Batten-Turner Congenital Myopathy|Becker Disease|Becker Generalized Myotonia|Congenital Myotonia|Disease, Becker|Disease, Thomsen|Disease, Thomsen's|Disease, Thomsens|Generalized Myotonia|Generalized Myotonia, Becker|Generalized Myotonia of Becker|Generalized Myotonia of Thomsen|Generalized Myotonias|Myopathy, Congenital|Myotonia, Becker Generalized|Myotonia Congenita, Autosomal Dominant|Myotonia Congenita, Autosomal Recessive|Myotonia, Generalized|Myotonia, Generalized, Becker|Myotonia Levior|Myotonias, Generalized|Thomsen Disease|Thomsen Generalized Myotonia|Thomsen's Disease|Thomsens Disease Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease MYOTONIA CONGENITA, AUTOSOMAL DOMINANT OMIM:160800 DO:DOID:0081336 MESH:D009224 C05.651.662.500/160800|C10.574.500.545/160800|C10.668.491.606.500/160800|C16.320.400.540/160800 C05.651.662.500|C10.574.500.545|C10.668.491.606.500|C16.320.400.540 THOMSEN DISEASE;THD MYOTONIA LEVIOR, INCLUDED Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Myotonia with Skeletal Abnormalities and Mental Retardation MESH:C564967 MESH:D008607|MESH:D009224 C05.651.662.500/C564967|C10.574.500.545/C564967|C10.597.606.360/C564967|C10.668.491.606.500/C564967|C16.320.400.540/C564967|C23.888.592.604.646/C564967|F03.625.539/C564967 C05.651.662.500|C10.574.500.545|C10.597.606.360|C10.668.491.606.500|C16.320.400.540|C23.888.592.604.646|F03.625.539 Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Myotonic Disorders MESH:D020967 DO:DOID:0050759|DO:DOID:0111538|DO:DOID:450|OMIM:168300 Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition. MESH:D009135 C05.651.662|C10.668.491.606 C05.651|C10.668.491 Disorder, Myotonic|Disorders, Myotonic|Eulenburg Disease|Eulenburg's Disease|Myopathies, Myotonic|Myopathy, Myotonic|Myotonia Fluctuans|Myotonic Disorder|Myotonic Myopathies|Myotonic Myopathy|Paralysis Periodica Paramyotonia|PARALYSIS PERIODICA PARAMYOTONICA PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS, INCLUDED|Paramyotonia Congenita|Paramyotonia Congenita of von Eulenberg|PARAMYOTONIA CONGENITA OF VON EULENBURG|Paramyotonia Congenita Without Cold Paralysis|PMC|Von Eulenberg Disease|Von Eulenberg's Disease Musculoskeletal disease|Nervous system disease Myotonic Dystrophy MESH:D009223 DO:DOID:11722|OMIM:160900|OMIM:602668 Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. MESH:D009136|MESH:D020271|MESH:D020967 C05.651.534.500.500|C05.651.662.750|C10.574.500.547|C10.668.491.175.500.500|C10.668.491.606.750|C16.320.400.542|C16.320.577.500 C05.651.534.500|C05.651.662|C10.574.500|C10.668.491.175.500|C10.668.491.606|C16.320.400|C16.320.577 Atrophica, Myotonia|Atrophicas, Myotonia|Congenital Myotonic Dystrophies|Congenital Myotonic Dystrophy|Disease, Steinert|Disease, Steinert's|DM|DM1|DM2|Dystrophia Myotonica|Dystrophia Myotonica 1|Dystrophia Myotonica 2|Dystrophia Myotonica 2s|Dystrophia Myotonicas|Dystrophica, Myotonia|Dystrophicas, Myotonia|Dystrophies, Congenital Myotonic|Dystrophies, Myotonic|Dystrophy, Congenital Myotonic|Dystrophy, Myotonic|Dystrophy, Steinert Myotonic|Myopathies, Proximal Myotonic|Myopathy, Proximal Myotonic|Myotonia Atrophica|Myotonia Atrophicas|Myotonia Dystrophica|Myotonia Dystrophicas|Myotonica, Dystrophia|Myotonicas, Dystrophia|Myotonic Dystrophies|Myotonic Dystrophies, Congenital|Myotonic Dystrophy 1|Myotonic Dystrophy 2|Myotonic Dystrophy, Congenital|Myotonic Dystrophy, Steinert|Myotonic Myopathies, Proximal|Myotonic Myopathy, Proximal|PROMM|PROMM (Proximal Myotonic Myopathy)|PROMMs (Proximal Myotonic Myopathy)|Proximal Myotonic Myopathies|Proximal Myotonic Myopathy|Ricker Syndrome|Steinert Disease|Steinert Myotonic Dystrophy|Steinert's Disease|Steinerts Disease|Syndrome, Ricker Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Myotonic Myopathy with Cylindrical Spirals MESH:C563535 MESH:D020967 C05.651.662/C563535|C10.668.491.606/C563535 C05.651.662|C10.668.491.606 Musculoskeletal disease|Nervous system disease Myotoxicity MESH:D000081030 Damage to the muscle or its function secondary to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION. MESH:D009135|MESH:D010335|MESH:D011832|MESH:D064420 C05.651.682|C10.668.491.628|C23.550.706|C25.100.828|C26.733.411 C05.651|C10.668.491|C23.550|C25.100|C26.733 Drug Associated Myopathies|Drug Associated Myopathy|Drug Induced Myopathies|Drug Induced Myopathy|Drug Related Myopathies|Drug Related Myopathy|Induced Myopathy, Drug|Myalgia Arthralgia Syndrome|Myalgia-Arthralgia Syndrome|Myalgia-Arthralgia Syndromes|Myopathies, Drug Related|Myopathy, Drug Associated|Myopathy, Drug Induced|Myopathy, Drug Related|Myopathy, Toxic|Myotoxicities|Related Myopathies, Drug|Related Myopathy, Drug|Toxic Myopathies|Toxic Myopathy Musculoskeletal disease|Nervous system disease|Pathology (process)|Wounds and injuries Myotubular Myopathy with Abnormal Genital Development MESH:C564561 MESH:D014564|MESH:D020914 C05.651.575/C564561|C10.668.491.550/C564561|C12.050.351.875/C564561|C12.200.706/C564561|C12.800/C564561|C16.131.939/C564561 C05.651.575|C10.668.491.550|C12.050.351.875|C12.200.706|C12.800|C16.131.939 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Myringosclerosis MESH:D063371 The formation of dense connective tissue and calcification in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing. MESH:D000092163 C09.218.951.500 C09.218.951 Myringoscleroses Ear-nose-throat disease Mysophobia MESH:C000719206 MESH:D010698 F03.080.725/C000719206 F03.080.725 Bacteriophobia|Fear of bacteria|Fear of dirt|Fear of dirt and germs|Fear of germs|germophobia|Phobia, bacteria|Phobia, dirt|Phobia, germs|Verminophobia Mental disorder Myxedema MESH:D009230 DO:DOID:11634 A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips. MESH:D007037|MESH:D017520 C17.300.550.590|C19.874.482.638 C17.300.550|C19.874.482 Myxedemas Connective tissue disease|Endocrine system disease Myxoma MESH:D009232 A benign neoplasm derived from connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix, thereby resembling primitive mesenchymal tissue. It occurs frequently intramuscularly where it may be mistaken for a sarcoma. It appears also in the jaws and the skin. (From Stedman, 25th ed) MESH:D009372 C04.557.450.565.550 C04.557.450.565 Angiomyxoma|Angiomyxomas|Myxomas Cancer Myxomatosis, Infectious MESH:D009234 Diseases caused by MYXOMA VIRUS. MESH:D000820|MESH:D011213 C01.925.256.743.665|C22.627 C01.925.256.743|C22 Infectious Myxomatoses|Infectious Myxomatosis|Myxomatoses, Infectious Animal disease|Viral disease Myxosarcoma MESH:D009236 DO:DOID:4136 A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed) MESH:D009372|MESH:D012509 C04.557.450.565.560|C04.557.450.795.560 C04.557.450.565|C04.557.450.795 Myxosarcomas Cancer Nablus mask-like facial syndrome MESH:C536110 MESH:D000015|MESH:D016569|MESH:D019465 C05.660.207/C536110|C11.250.090/C536110|C11.338.190/C536110|C16.131.077/C536110|C16.131.384.190/C536110|C16.131.621.207/C536110 C05.660.207|C11.250.090|C11.338.190|C16.131.077|C16.131.384.190|C16.131.621.207 Congenital abnormality|Eye disease|Musculoskeletal disease N-acetyl glutamate synthetase deficiency MESH:C536109 OMIM:237310 MESH:D056806 C10.228.140.163.100.937/C536109|C16.320.565.100.940/C536109|C16.320.565.189.937/C536109|C18.452.132.100.937/C536109|C18.452.648.100.940/C536109|C18.452.648.189.937/C536109 C10.228.140.163.100.937|C16.320.565.100.940|C16.320.565.189.937|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937 Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency|N-Acetylglutamate Synthase Deficiency|N-Acetylglutamate Synthetase Deficiency|NAGSD|NAGS Deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease N-Acetylneuraminic acid storage disease MESH:C535525 MESH:D029461 C10.228.140.163.100.435.810/C535525|C16.320.565.189.435.810/C535525|C16.320.565.595.554.810/C535525|C18.452.132.100.435.810/C535525|C18.452.648.189.435.810/C535525|C18.452.648.595.554.810/C535525 C10.228.140.163.100.435.810|C16.320.565.189.435.810|C16.320.565.595.554.810|C18.452.132.100.435.810|C18.452.648.189.435.810|C18.452.648.595.554.810 Nana storage disease Genetic disease (inborn)|Metabolic disease|Nervous system disease N acetyltransferase deficiency MESH:C536107 MESH:D008661 C16.320.565/C536107|C18.452.648/C536107 C16.320.565|C18.452.648 N acetyltransferase 1 deficiency|NAT1 deficiency Genetic disease (inborn)|Metabolic disease NADH cytochrome B5 reductase deficiency MESH:C537841 OMIM:250800 MESH:D008708 C15.378.619/C537841 C15.378.619 Diaphorase deficiency|Methemoglobinemia, Congenital, Autosomal Recessive|METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE METHEMOGLOBINEMIA, TYPE I, INCLUDED|Methemoglobinemia due to deficiency of methemoglobin reductase|Methemoglobinemia, Type I|Methemoglobinemia, Type Ii|METHEMOGLOBINEMIA, TYPE II, INCLUDED|Nadh-Cytochrome B5 Reductase Deficiency|Nadh-Cytochrome B5 Reductase Deficiency, Type I|Nadh-Cytochrome B5 Reductase Deficiency, Type Ii|NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE II, INCLUDED|NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE I, INCLUDED|NADH-dependent methemoglobin reductase deficiency|NADH diaphorase deficiency|NADH methemoglobin reductase deficiency Blood disease Naegeli syndrome MESH:C538331 DO:DOID:0111528|OMIM:161000 MESH:D004476|MESH:D007007|MESH:D007645 C16.131.077.350/C538331|C16.131.831.350/C538331|C16.320.850.250/C538331|C16.320.850.475/C538331|C17.800.428.435/C538331|C17.800.804.350/C538331|C17.800.827.250/C538331|C17.800.827.475/C538331|C17.800.946.370/C538331 C16.131.077.350|C16.131.831.350|C16.320.850.250|C16.320.850.475|C17.800.428.435|C17.800.804.350|C17.800.827.250|C17.800.827.475|C17.800.946.370 Naegeli-Franceschetti-Jadassohn Syndrome|NAEGELI SYNDROME|NFJS|NFJ SYNDROME Congenital abnormality|Genetic disease (inborn)|Skin disease Naguib-Richieri-Costa syndrome MESH:C538332 MESH:D006972|MESH:D007021|MESH:D013576 C05.116.099.370.231.480/C538332|C05.116.099.370.894.819/C538332|C05.660.207.231.480/C538332|C05.660.585.800/C538332|C05.660.906.819/C538332|C12.050.351.875.466/C538332|C12.100.500.494.400/C538332|C12.200.294.494.400/C538332|C12.200.706.516/C538332|C12.800.516/C538332|C16.131.621.207.231.480/C538332|C16.131.621.585.800/C538332|C16.131.621.906.819/C538332|C16.131.939.516/C538332 C05.116.099.370.231.480|C05.116.099.370.894.819|C05.660.207.231.480|C05.660.585.800|C05.660.906.819|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.621.207.231.480|C16.131.621.585.800|C16.131.621.906.819|C16.131.939.516 Acrofrontofacionasal Dysostosis 2|Acrofrontofacionasal dysostosis, severe|Acrofrontofacionasal Dysostosis with Genitourinary Anomalies|Hypertelorism, Hypospadias, and Polysyndactyly Syndrome|Hypertelorism hypospadias polysyndactyly syndrome|Naguib syndrome Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Nail Diseases MESH:D009260 DO:DOID:4123 Diseases of the nail plate and tissues surrounding it. The concept is limited to primates. MESH:D012871 C17.800.529 C17.800 Disease, Nail|Diseases, Nail|Nail Disease Skin disease NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 OMIM:161050 DO:DOID:0080079 MESH:C562907 C17.800.529/C562907/161050|C23.300.820/C562907/161050 C17.800.529/C562907|C23.300.820/C562907 CLAW-SHAPED NAILS|NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, FORMERLY;NDNC10, FORMERLY NAIL GROWTH, INCLUDED|NDNC1|ONYCHAUXIS, HYPONYCHIA, AND ONYCHOLYSIS|ONYCHODYSTROPHY TOTALIS, ISOLATED|TWENTY-NAIL DYSTROPHY Pathology (anatomical condition)|Skin disease NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 OMIM:151600 DO:DOID:0080081 MESH:C535889 C17.800.529/C535889/151600|C17.800.621.440/C535889/151600 C17.800.529/C535889|C17.800.621.440/C535889 LEUKONYCHIA PUNCTATA, INCLUDED|LEUKONYCHIA TOTALIS AND/OR PARTIALIS|NDNC3|PORCELAIN NAILS LEUKONYCHIA STRIATUS, INCLUDED Skin disease NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 OMIM:614149 DO:DOID:0080087 MESH:D009264|MESH:D054039 C17.800.529.478/614149|C23.300.820/614149 C17.800.529.478|C23.300.820 ANONYCHIA-ONYCHOLYSIS, ISOLATED|NAIL DYSPLASIA|NDNC9|ONYCHODYSTROPHY Pathology (anatomical condition)|Skin disease Nail dysplasia, isolated congenital MESH:C538333 OMIM:605779 MESH:D009260 C17.800.529/C538333 C17.800.529 Congenital Isolated nail dysplasia|Isolated congenital nail dysplasia|NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7|NDNC7|Onychodysplasia, Isolated Congenital Skin disease Nail-Patella Syndrome MESH:D009261 DO:DOID:9467|OMIM:161200 A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait. MESH:D000015|MESH:D007592|MESH:D009260|MESH:D030342 C05.550.629|C16.131.077.606|C16.320.600|C17.800.529.400 C05.550|C16.131.077|C16.320|C17.800.529 Disease, Fong|Fong Disease|Hereditary Onycho-Osteodysplasia|Hereditary Osteo-Onychodysplasia|Hereditary Osteo-Onychodysplasias|Nail Patella Syndrome|NPS|NPS1|Onychoosteodysplasia|Osteo Onychodysplasia, Hereditary|Osteo-Onychodysplasia, Hereditary|Osteo-Onychodysplasias, Hereditary|Osterreicher Syndrome|Pelvic Horn Syndrome|Syndrome, Nail-Patella|Syndrome, Osterreicher|Syndrome, Pelvic Horn|Syndrome, Turner-Kieser|Turner Kieser Syndrome|Turner-Kieser Syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Nails, Ingrown MESH:D009263 Excessive lateral nail growth into the nail fold. Because the lateral margin of the nail acts as a foreign body, inflammation and granulation may result. It is caused by improperly fitting shoes and by improper trimming of the nail. MESH:D009260 C17.800.529.406 C17.800.529 Ingrown Nail|Ingrown Nails|Nail, Ingrown|Onychocryptoses|Onychocryptosis Skin disease Nails, Malformed MESH:D009264 Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails. MESH:D020763 C23.300.820 C23.300 Abnormalities, Nail|Abnormality, Nail|Abnormal Nail|Abnormal Nails|Malformed Nail|Malformed Nails|Nail, Abnormal|Nail Abnormalities|Nail Abnormality|Nail, Malformed|Nails, Abnormal|Pachyonychia Pathology (anatomical condition) Nairobi Sheep Disease MESH:D009265 An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis. MESH:D001102|MESH:D002044|MESH:D012757|MESH:D017282 C01.920.500.614|C01.920.930.550|C01.925.081.678|C01.925.782.147.633|C22.836.583 C01.920.500|C01.920.930|C01.925.081|C01.925.782.147|C22.836 Disease, Nairobi Sheep|Sheep Disease, Nairobi Animal disease|Viral disease Najjar syndrome MESH:C535580 DO:DOID:0111584 MESH:D009202 C14.280.238/C535580 C14.280.238 Cardiogenital syndrome|Genital Anomaly With Cardiomyopathy Cardiovascular disease Nakajo syndrome MESH:C538334 MESH:D004893 C17.800.174.600.375/C538334|C17.800.229.413/C538334|C25.100.468.380.375/C538334 C17.800.174.600.375|C17.800.229.413|C25.100.468.380.375 Nodular erythema digital changes|Nodular Erythema With Digital Changes Skin disease Nakamura Osame syndrome MESH:C538335 MESH:D008607|MESH:D015419|MESH:D061085 C10.500.034/C538335|C10.500.300.820/C538335|C10.574.500.495.820/C538335|C10.597.606.360/C538335|C10.668.829.800.300.820/C538335|C16.131.666.034/C538335|C16.131.666.300.820/C538335|C16.320.400.375.820/C538335|C23.300.008/C538335|C23.888.592.604.646/C538335|F03.625.539/C538335 C10.500.034|C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.668.829.800.300.820|C16.131.666.034|C16.131.666.300.820|C16.320.400.375.820|C23.300.008|C23.888.592.604.646|F03.625.539 Spastic paraplegia, mental retardation and thin corpus callosum Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Nance-Horan syndrome MESH:C538336 DO:DOID:0060599|OMIM:302350 MESH:D002386|MESH:D014071|MESH:D040181 C07.650.800/C538336|C07.793.700/C538336|C11.510.245/C538336|C16.131.850.800/C538336|C16.320.322/C538336 C07.650.800|C07.793.700|C11.510.245|C16.131.850.800|C16.320.322 Cataract-Dental Syndrome|Cataract, X-linked, with Hutchinsonian Teeth|Mesiodens-Cataract Syndrome|NHS Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease Nanophthalmos 1 MESH:C563983 OMIM:600165 MESH:D006956|MESH:D008850|MESH:D015812 C11.250.566/C563983|C11.525.381.056/C563983|C11.744.479/C563983|C16.131.384.666/C563983 C11.250.566|C11.525.381.056|C11.744.479|C16.131.384.666 Microphthalmos, Simple, Autosomal Dominant|Nanophthalmia 1|Nanophthalmos, Autosomal Dominant|Nanophthalmos with High Hyperopia and Angle-Closure Glaucoma|NNO1 Congenital abnormality|Eye disease Nanophthalmos 2 MESH:C563700 OMIM:609549 MESH:D008850 C11.250.566/C563700|C16.131.384.666/C563700 C11.250.566|C16.131.384.666 Nanophthalmia 2|Nanophthalmos, Autosomal Recessive|NNO2 Congenital abnormality|Eye disease Nanophthalmos 3 MESH:C567498 OMIM:611897 MESH:D008850 C11.250.566/C567498|C16.131.384.666/C567498 C11.250.566|C16.131.384.666 Nanophthalmia 3|NNO3 Congenital abnormality|Eye disease NANOPHTHALMOS 4 OMIM:615972 DO:DOID:0080634 MESH:D008850 C11.250.566/615972|C16.131.384.666/615972 C11.250.566|C16.131.384.666 NANOPHTHALMIA 4|NNO4 Congenital abnormality|Eye disease Narcolepsy MESH:D009290 DO:DOID:8986|OMIM:605841|OMIM:609039|OMIM:612417|OMIM:612851|OMIM:614223|OMIM:614250 A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7) MESH:D006970 C10.886.425.800.200.750|F03.870.400.800.200.750 C10.886.425.800.200|F03.870.400.800.200 Gelineau's Syndrome|Gelineaus Syndrome|Gelineau's Syndromes|Gelineau Syndrome|NARCOLEPSY 2, SUSCEPTIBILITY TO|NARCOLEPSY 3|NARCOLEPSY 4, SUSCEPTIBILITY TO|NARCOLEPSY 5, SUSCEPTIBILITY TO|NARCOLEPSY 6, SUSCEPTIBILITY TO|NARCOLEPSY 7|Narcolepsy Cataplexy Syndrome|Narcolepsy-Cataplexy Syndrome|Narcolepsy-Cataplexy Syndromes|Narcoleptic Syndrome|Narcoleptic Syndromes|NRCLP2|NRCLP3|NRCLP4|NRCLP5|NRCLP6|NRCLP7|Paroxysmal Sleep|Sleep, Paroxysmal|Syndrome, Gelineau|Syndrome, Gelineau's|Syndrome, Narcolepsy-Cataplexy|Syndrome, Narcoleptic|Syndromes, Gelineau's|Syndromes, Narcolepsy-Cataplexy|Syndromes, Narcoleptic Mental disorder|Nervous system disease Narcolepsy 1 MESH:C563534 OMIM:161400 MESH:D009290 C10.886.425.800.200.750/C563534|F03.870.400.800.200.750/C563534 C10.886.425.800.200.750|F03.870.400.800.200.750 Narcoleptic Syndrome 1|NARCOLEPTIC SYNDROME 1 CATAPLEXY, INCLUDED|NRCLP1 Mental disorder|Nervous system disease Narcotic-Related Disorders MESH:D000079524 Disorders related to or resulting from abuse or misuse of NARCOTICS. MESH:D019966 C25.775.643|F03.900.647 C25.775|F03.900 Abuse, Narcotic|Abuses, Narcotic|Addiction, Narcotic|Dependence, Narcotic|Disorder, Narcotic-Related|Narcotic Abuse|Narcotic Abuses|Narcotic Addiction|Narcotic Addictions|Narcotic Dependence|Narcotic-Related Disorder|Narcotic Related Disorders Mental disorder|Substance-related disorder Nasal Alar Collapse, Bilateral MESH:C563533 MESH:D009668 C08.460/C563533|C09.603/C563533 C08.460|C09.603 Ear-nose-throat disease|Respiratory tract disease Nasal Bones, Absence of MESH:C562753 MESH:D000013 C16.131/C562753 C16.131 Nasal Cartilages, Agenesis of Congenital abnormality Nasal Obstruction MESH:D015508 Any hindrance to the passage of air into and out of the nose. The obstruction may be unilateral or bilateral, and may involve any part of the NASAL CAVITY. MESH:D000402|MESH:D009668 C08.460.525|C08.618.846.185.525|C09.603.525 C08.460|C08.618.846.185|C09.603 Airway Obstruction, Nasal|Bilateral Nasal Obstruction|Blockage, Nasal|Blockages, Nasal|Nasal Airway Obstruction|Nasal Blockage|Nasal Blockages|Nasal Obstruction, Bilateral|Nasal Obstruction, Unilateral|Obstruction, Bilateral Nasal|Obstruction, Nasal|Obstruction, Nasal Airway|Obstructions, Nasal|Unilateral Nasal Obstruction Ear-nose-throat disease|Respiratory tract disease Nasal Polyps MESH:D009298 Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations. MESH:D009668|MESH:D011127 C08.460.572|C09.603.557|C23.300.825.557 C08.460|C09.603|C23.300.825 Nasal Polyp|Polyp, Nasal|Polyps, Nasal Ear-nose-throat disease|Pathology (anatomical condition)|Respiratory tract disease Nasal Septal Perforation MESH:D061270 An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process. MESH:D009668|MESH:D014947 C08.460.595|C09.603.588|C26.670 C08.460|C09.603|C26 Nasal Septal Perforations|Nasal Septum Perforation|Nasal Septum Perforations|Perforation, Nasal Septal|Perforation, Nasal Septum|Perforations, Nasal Septal|Perforations, Nasal Septum|Septal Perforation, Nasal|Septal Perforations, Nasal|Septum Perforation, Nasal|Septum Perforations, Nasal Ear-nose-throat disease|Respiratory tract disease|Wounds and injuries Nasodigitoacoustic syndrome MESH:C538337 DO:DOID:0111842 MESH:D003638|MESH:D038061|MESH:D040181 C05.660.585.512/C538337|C09.218.458.341.186/C538337|C10.597.751.418.341.186/C538337|C16.131.621.585.512/C538337|C16.320.322/C538337|C23.888.592.763.393.341.186/C538337 C05.660.585.512|C09.218.458.341.186|C10.597.751.418.341.186|C16.131.621.585.512|C16.320.322|C23.888.592.763.393.341.186 Keipert Syndrome Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Nasopalpebral lipoma coloboma syndrome MESH:C538338 MESH:D000015|MESH:D003103|MESH:D005142|MESH:D008067 C04.557.450.550.400/C538338|C04.588.443.392.500/C538338|C11.250.110/C538338|C11.270.147/C538338|C11.319.421/C538338|C11.338.526/C538338|C16.131.077/C538338|C16.131.384.282/C538338 C04.557.450.550.400|C04.588.443.392.500|C11.250.110|C11.270.147|C11.319.421|C11.338.526|C16.131.077|C16.131.384.282 Nasopalpebral Lipoma-Coloboma Syndrome|Palpebral coloboma lipoma Syndrome|Palpebral Coloboma-Lipoma Syndrome Cancer|Congenital abnormality|Eye disease Nasopharyngeal Carcinoma MESH:D000077274 OMIM:161550|OMIM:607107|OMIM:617075 A carcinoma that originates in the EPITHELIUM of the NASOPHARYNX and includes four subtypes: keratinizing squamous cell, non-keratinizing, basaloid squamous cell, and PAPILLARY ADENOCARCINOMA. It is most prevalent in Southeast Asian populations and is associated with EPSTEIN-BARR VIRUS INFECTIONS. Somatic mutations associated with this cancer have been identified in NPCR, BAP1, UBAP1, ERBB2, ERBB3, MLL2, PIK3CA, KRAS, NRAS, and ARID1A genes. MESH:D002277|MESH:D009303 C04.557.470.200.623|C04.588.443.665.710.650.500|C07.550.350.650.500|C07.550.745.650.500|C09.647.710.650.500|C09.775.350.650.500|C09.775.549.650.500 C04.557.470.200|C04.588.443.665.710.650|C07.550.350.650|C07.550.745.650|C09.647.710.650|C09.775.350.650|C09.775.549.650 Carcinoma, Nasopharyngeal|Carcinomas, Nasopharyngeal|NASOPHARYNGEAL CANCER NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 1, INCLUDED|Nasopharyngeal Carcinomas|NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2|NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3|NPC|NPCA|NPCA1, INCLUDED|NPCA2|NPCA3 Cancer|Ear-nose-throat disease|Mouth disease Nasopharyngeal Diseases MESH:D009302 DO:DOID:9561 Pathological processes involving the NASOPHARYNX. MESH:D010608 C07.550.350|C09.775.350 C07.550|C09.775 Disease, Nasopharyngeal|Diseases, Nasopharyngeal|Diseases of Nasopharynx|Nasopharyngeal Disease|Nasopharynx Disease|Nasopharynx Diseases Ear-nose-throat disease|Mouth disease Nasopharyngeal Neoplasms MESH:D009303 DO:DOID:9261 Tumors or cancer of the NASOPHARYNX. MESH:D009302|MESH:D010610 C04.588.443.665.710.650|C07.550.350.650|C07.550.745.650|C09.647.710.650|C09.775.350.650|C09.775.549.650 C04.588.443.665.710|C07.550.350|C07.550.745|C09.647.710|C09.775.350|C09.775.549 Cancer, Nasopharyngeal|Cancer, Nasopharynx|Cancer of Nasopharynx|Cancer of the Nasopharynx|Cancers, Nasopharyngeal|Cancers, Nasopharynx|Nasopharyngeal Cancer|Nasopharyngeal Cancers|Nasopharyngeal Neoplasm|Nasopharynx Cancer|Nasopharynx Cancers|Nasopharynx Neoplasm|Nasopharynx Neoplasms|Neoplasm, Nasopharyngeal|Neoplasm, Nasopharynx|Neoplasms, Nasopharyngeal|Neoplasms, Nasopharynx Cancer|Ear-nose-throat disease|Mouth disease Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia MESH:C538340 MESH:D000015|MESH:D003616|MESH:D009303|MESH:D013724|MESH:D065630 C04.557.465.910/C538340|C04.588.443.665.710.650/C538340|C07.550.350.650/C538340|C07.550.745.650/C538340|C09.647.710.650/C538340|C09.775.350.650/C538340|C09.775.549.650/C538340|C10.228.140.252.300/C538340|C10.228.140.602.500/C538340|C10.500.205/C538340|C16.131.077/C538340|C16.131.433/C538340|C16.131.666.205/C538340|C23.300.707.960.500.116/C538340 C04.557.465.910|C04.588.443.665.710.650|C07.550.350.650|C07.550.745.650|C09.647.710.650|C09.775.350.650|C09.775.549.650|C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C16.131.077|C16.131.433|C16.131.666.205|C23.300.707.960.500.116 Aughton Sloan Milad syndrome Cancer|Congenital abnormality|Ear-nose-throat disease|Mouth disease|Nervous system disease|Pathology (anatomical condition) Nasopharyngitis MESH:D009304 DO:DOID:10460 Inflammation of the NASOPHARYNX, usually including its mucosa, related lymphoid structure, and glands. MESH:D009302|MESH:D010612 C01.748.561.500|C07.550.350.700|C07.550.781.500|C08.730.561.500|C09.775.350.700|C09.775.649.500 C01.748.561|C07.550.350|C07.550.781|C08.730.561|C09.775.350|C09.775.649 Nasopharyngitides Ear-nose-throat disease|Mouth disease|Respiratory tract disease Nathalie syndrome MESH:C538342 MESH:D002386|MESH:D003638|MESH:D006130|MESH:D009133|MESH:D010007 C05.116.791/C538342|C05.182.520/C538342|C09.218.458.341.186/C538342|C10.597.613.612/C538342|C10.597.751.418.341.186/C538342|C11.510.245/C538342|C17.300.182.520/C538342|C23.300.070.500/C538342|C23.550.393/C538342|C23.888.592.608.612/C538342|C23.888.592.763.393.341.186/C538342 C05.116.791|C05.182.520|C09.218.458.341.186|C10.597.613.612|C10.597.751.418.341.186|C11.510.245|C17.300.182.520|C23.300.070.500|C23.550.393|C23.888.592.608.612|C23.888.592.763.393.341.186 Connective tissue disease|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms Native American myopathy MESH:C538343 DO:DOID:0060346|OMIM:255995 MESH:D002972|MESH:D008305|MESH:D009224 C05.500.460.185/C538343|C05.651.662.500/C538343|C05.660.207.540.460.185/C538343|C07.320.440.185/C538343|C07.465.525.185/C538343|C07.650.500.460.185/C538343|C07.650.525.185/C538343|C10.574.500.545/C538343|C10.668.491.606.500/C538343|C16.131.621.207.540.460.185/C538343|C16.131.850.500.460.185/C538343|C16.131.850.525.185/C538343|C16.320.400.540/C538343|C23.550.505.700/C538343|C23.550.767.600/C538343|C23.888.119.455.500/C538343 C05.500.460.185|C05.651.662.500|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.574.500.545|C10.668.491.606.500|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.400.540|C23.550.505.700|C23.550.767.600|C23.888.119.455.500 CMYP13|CONGENITAL MYOPATHY 13|Congenital myopathy cleft palate and malignant hyperthermia|MYOPATHY, CONGENITAL, BAILEY-BLOCH|Myopathy, Congenital, With Cleft Palate And Malignant Hyperthermia|MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA|MYPBB|NAM|NATIVE AMERICAN MYOPATHY Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Natural Killer Cell Deficiency, Familial Isolated MESH:C566492 DO:DOID:0111967 MESH:D007153 C20.673/C566492 C20.673 Immune system disease Nausea MESH:D009325 An unpleasant sensation in the stomach usually accompanied by the urge to vomit. Common causes are early pregnancy, sea and motion sickness, emotional stress, intense pain, food poisoning, and various enteroviruses. MESH:D012817 C23.888.821.712 C23.888.821 Signs and symptoms Navajo neurohepatopathy MESH:C538344 DO:DOID:0080125|OMIM:256810 MESH:D008107|MESH:D010523|MESH:D020271|MESH:D028361 C06.552/C538344|C10.574.500/C538344|C10.668.829/C538344|C16.320.400/C538344|C18.452.660/C538344 C06.552|C10.574.500|C10.668.829|C16.320.400|C18.452.660 Mitochondrial Dna Depletion Syndrome 6|MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)|MPV17-Associated Hepatocerebral MDS|MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome|MTDPS6|Navajo Familial Neurogenic Arthropathy|NAVAJO NEUROHEPATOPATHY|Navajo neuropathy|NAVAJO NEUROPATHY;NN NAVAJO FAMILIAL NEUROGENIC ARTHROPATHY, INCLUDED|NNH Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Navajo poikiloderma MESH:C538345 MESH:D011038 C16.131.831.775/C538345|C16.320.850.765/C538345|C16.614.760/C538345|C17.800.804.775/C538345|C17.800.827.775/C538345|C18.452.284.760/C538345 C16.131.831.775|C16.320.850.765|C16.614.760|C17.800.804.775|C17.800.827.775|C18.452.284.760 Navajo immune deficient poikiloderma Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease Naxos disease MESH:C538346 DO:DOID:0080551|OMIM:601214 MESH:D006201|MESH:D007645|MESH:D019571 C14.240.400.145/C538346|C14.280.238.028/C538346|C14.280.400.145/C538346|C16.131.240.400.145/C538346|C16.320.850.475/C538346|C17.800.329/C538346|C17.800.428.435/C538346|C17.800.827.475/C538346 C14.240.400.145|C14.280.238.028|C14.280.400.145|C16.131.240.400.145|C16.320.850.475|C17.800.329|C17.800.428.435|C17.800.827.475 CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES|Keratosis palmoplantaris with arrhythmogenic cardiomyopathy|Mal de Naxos|NXD|Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair|Woolly hair, palmoplantar keratoderma, and cardiac abnormalities Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Skin disease NBIA2B MESH:C565699 OMIM:610217 MESH:D019150|MESH:D019189 C10.228.140.744/C565699|C18.452.565/C565699 C10.228.140.744|C18.452.565 Neuroaxonal Dystrophy, Atypical|NEUROAXONAL DYSTROPHY, ATYPICAL KARAK SYNDROME, INCLUDED|Neurodegeneration With Brain Iron Accumulation 2B|Neurodegeneration With Brain Iron Accumulation, PLA2G6-Related Metabolic disease|Nervous system disease Near Drowning MESH:D015701 Non-fatal immersion or submersion in water. The subject is resuscitable. MESH:D004332 C26.304.500 C26.304 Drowning, Near|Drownings, Near|Near-Drowning|Near Drownings|Near-Drownings Wounds and injuries Necatoriasis MESH:D009332 DO:DOID:2790 Infection of humans or animals with hookworms of the genus NECATOR. The resulting anemia from this condition is less severe than that from ANCYLOSTOMIASIS. MESH:D006725 C01.610.335.508.700.775.455.683 C01.610.335.508.700.775.455 Necatoriases Parasitic disease Neck Injuries MESH:D019838 General or unspecified injuries to the neck. It includes injuries to the skin, muscles, and other soft tissues of the neck. MESH:D014947 C26.700 C26 Injuries, Neck|Injury, Neck|Neck Injury Wounds and injuries Neck Pain MESH:D019547 Discomfort or more intense forms of pain that are localized to the cervical region. This term generally refers to pain in the posterior or lateral regions of the neck. MESH:D010146 C23.888.592.612.553 C23.888.592.612 Ache, Neck|Aches, Neck|Anterior Cervical Pain|Anterior Cervical Pains|Anterior Neck Pain|Anterior Neck Pains|Cervicalgia|Cervicalgias|Cervical Pain|Cervical Pain, Anterior|Cervical Pain, Posterior|Cervical Pains|Cervical Pains, Anterior|Cervical Pains, Posterior|Cervicodynia|Cervicodynias|Neckache|Neck Ache|Neckaches|Neck Aches|Neck Pain, Anterior|Neck Pain, Posterior|Neck Pains|Neck Pains, Anterior|Neck Pains, Posterior|Pain, Anterior Cervical|Pain, Anterior Neck|Pain, Cervical|Pain, Neck|Pain, Posterior Cervical|Pain, Posterior Neck|Pains, Anterior Cervical|Pains, Anterior Neck|Pains, Cervical|Pains, Neck|Pains, Posterior Cervical|Pains, Posterior Neck|Posterior Cervical Pain|Posterior Cervical Pains|Posterior Neck Pain|Posterior Neck Pains Signs and symptoms Necrobiosis Lipoidica MESH:D009335 DO:DOID:3486 A degenerative disease of the dermal connective tissue characterized by the development of erythematous papules or nodules in the pretibial area. The papules form plaques covered with telangiectatic vessels. More than half of the affected patients have diabetes. MESH:D012875|MESH:D017441 C17.300.200.495.545|C17.800.550.545|C17.800.849.495|C18.452.880.495 C17.300.200.495|C17.800.550|C17.800.849|C18.452.880 Diabeticorum, Necrobiosis Lipoidica|Necrobiosis Lipoidica Diabeticorum Connective tissue disease|Metabolic disease|Skin disease Necrobiotic Disorders MESH:D017441 A group of disorders characterized by swelling, basophilia, and distortion of collagen bundles in the dermis. MESH:D003095|MESH:D012871 C17.300.200.495|C17.800.550 C17.300.200|C17.800 Disorder, Necrobiotic|Disorders, Necrobiotic|Necrobioses|Necrobiosis|Necrobiotic Disorder Connective tissue disease|Skin disease Necrobiotic Xanthogranuloma MESH:D058252 A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement. MESH:D006099|MESH:D014973|MESH:D017441 C15.604.515.292.507|C17.300.200.495.772|C17.800.550.772|C18.452.584.750.487|C23.550.382.984 C15.604.515.292|C17.300.200.495|C17.800.550|C18.452.584.750|C23.550.382 Necrobiotic Xanthogranulomas|Xanthogranuloma, Necrobiotic|Xanthogranulomas, Necrobiotic Connective tissue disease|Lymphatic disease|Metabolic disease|Pathology (process)|Skin disease Necrolytic Migratory Erythema MESH:D058568 Recurrent cutaneous manifestation of GLUCAGONOMA characterized by necrolytic polycyclic migratory lesions with scaling borders. It is associated with elevated secretion of GLUCAGON by the tumor. Other conditions with elevated serum glucagon levels such as HEPATIC CIRRHOSIS may also result in similar skin lesions, which are referred to as pseudoglucagonoma syndrome. MESH:D012871|MESH:D012877 C17.800.551|C23.888.885.468 C17.800|C23.888.885 Erythema, Necrolytic Migratory|Erythemas, Necrolytic Migratory|Migratory Erythema, Necrolytic|Migratory Erythemas, Necrolytic|Necrolytic Migratory Erythemas|Pseudoglucagonoma Syndrome|Pseudoglucagonoma Syndromes|Syndrome, Pseudoglucagonoma|Syndromes, Pseudoglucagonoma Signs and symptoms|Skin disease Necrophobia MESH:C000719207 MESH:D010698 F03.080.725/C000719207 F03.080.725 Fear of dead things|Fear of death|Fear of death or dead things|Phobia, death Mental disorder Necrosis MESH:D009336 The death of cells in an organ or tissue due to disease, injury or failure of the blood supply. MESH:D010335 C23.550.717 C23.550 Pathology (process) Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult MESH:C563530 MESH:D007888|MESH:D015418 C10.228.140.163.100.412/C563530|C10.292.700.225.500/C563530|C10.574.500.662/C563530|C11.270.564/C563530|C11.640.451.451/C563530|C16.320.290.564/C563530|C16.320.400.630/C563530|C16.320.565.189.412/C563530|C16.320.565.202.810.444/C563530|C18.452.132.100.412/C563530|C18.452.648.189.412/C563530|C18.452.648.202.810.444/C563530|C18.452.660.520/C563530 C10.228.140.163.100.412|C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 Leigh Syndrome, Adult Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Necrotizing encephalopathy, infantile subacute, of Leigh MESH:C538590 MESH:D007888 C10.228.140.163.100.412/C538590|C16.320.565.189.412/C538590|C16.320.565.202.810.444/C538590|C18.452.132.100.412/C538590|C18.452.648.189.412/C538590|C18.452.648.202.810.444/C538590|C18.452.660.520/C538590 C10.228.140.163.100.412|C16.320.565.189.412|C16.320.565.202.810.444|C18.452.132.100.412|C18.452.648.189.412|C18.452.648.202.810.444|C18.452.660.520 Leigh's necrotizing encephalopathy Genetic disease (inborn)|Metabolic disease|Nervous system disease Needlestick Injuries MESH:D016602 Penetrating stab wounds caused by needles. They are of special concern to health care workers since such injuries put them at risk for developing infectious disease. MESH:D014951 C26.986.950.500 C26.986.950 Injuries, Needlestick|Injuries, Needle-Stick|Injuries, Sharps|Injury, Needlestick|Injury, Needle-Stick|Injury, Sharps|Needlestick|Needle Stick|Needle-Stick|Needle Stick Injuries|Needle-Stick Injuries|Needlestick Injury|Needle-Stick Injury|Needlesticks|Needle Sticks|Needle-Sticks|Sharps Injuries|Sharps Injury|Stick, Needle|Sticks, Needle Wounds and injuries Negative rheumatoid factor polyarthritis MESH:C538347 MESH:D001168 C05.550.114/C538347 C05.550.114 RF-ve CP|Rheumatoid factor negative erosive chronic polyarthritis|Rheumatoid factor-negative polyarthritis Musculoskeletal disease Neglected Diseases MESH:D058069 Diseases that are underfunded and have low name recognition but are major burdens in less developed countries. The World Health Organization has designated six tropical infectious diseases as being neglected in industrialized countries that are endemic in many developing countries (HELMINTHIASIS; LEPROSY; LYMPHATIC FILARIASIS; ONCHOCERCIASIS; SCHISTOSOMIASIS; and TRACHOMA). MESH:D020969 C23.550.291.890 C23.550.291 Disease, Neglected|Diseases, Neglected|Neglected Disease Pathology (process) Neisseriaceae Infections MESH:D016870 Infections with bacteria of the family NEISSERIACEAE. MESH:D016905 C01.150.252.400.625 C01.150.252.400 Infection, Neisseriaceae|Infections, Neisseriaceae|Neisseriaceae Infection Bacterial infection or mycosis Nelson Syndrome MESH:D009347 DO:DOID:4968 A syndrome characterized by HYPERPIGMENTATION, enlarging pituitary mass, visual defects secondary to compression of the OPTIC CHIASM, and elevated serum ACTH. It is caused by the expansion of an underlying ACTH-SECRETING PITUITARY ADENOMA that grows in the absence of feedback inhibition by adrenal CORTICOSTEROIDS, usually after ADRENALECTOMY. MESH:D049913 C04.588.322.609.145.500|C10.228.140.617.738.675.149.500|C19.344.609.145.500|C19.700.734.145.500 C04.588.322.609.145|C10.228.140.617.738.675.149|C19.344.609.145|C19.700.734.145 Cancer|Endocrine system disease|Nervous system disease Nemaline myopathy 1 MESH:C538348 DO:DOID:0110926|OMIM:609284 MESH:D017696 C05.651.575.290/C538348|C10.668.491.550.290/C538348 C05.651.575.290|C10.668.491.550.290 Cap Myopathy, Tpm3-Related|CMYP4B|CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE|Nemaline myopathy caused by mutation in the tropomyosin 3 gene Musculoskeletal disease|Nervous system disease NEMALINE MYOPATHY 10 OMIM:616165 DO:DOID:0110931 MESH:D017696 C05.651.575.290/616165|C10.668.491.550.290/616165 C05.651.575.290|C10.668.491.550.290 NEM10 Musculoskeletal disease|Nervous system disease Nemaline Myopathy 2 MESH:C538349 DO:DOID:0110928|OMIM:256030 MESH:D017696 C05.651.575.290/C538349|C10.668.491.550.290/C538349 C05.651.575.290|C10.668.491.550.290 NEM2|Nemaline myopathy caused by mutation in the nebulin gene Musculoskeletal disease|Nervous system disease Nemaline myopathy 4 MESH:C538351 DO:DOID:0110932|OMIM:609285 MESH:D017696 C05.651.575.290/C538351|C10.668.491.550.290/C538351 C05.651.575.290|C10.668.491.550.290 CAPM2, FORMERLY|CAP MYOPATHY 2, FORMERLY|Cap Myopathy, Tpm2-Related|CMYP23|CONGENITAL MYOPATHY 23|NEM4|NEMALINE MYOPATHY 4|Nemaline myopathy caused by mutation in the tropomyosin 2 gene Musculoskeletal disease|Nervous system disease Nemaline myopathy 5 MESH:C538397 DO:DOID:0110936|OMIM:605355 MESH:D017696 C05.651.575.290/C538397|C10.668.491.550.290/C538397 C05.651.575.290|C10.668.491.550.290 Amish Nemaline Myopathy|ANM|NEM5A|NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE|Nemaline Myopathy, Amish Type|Nemaline myopathy, caused by mutation in the troponin t1 gene Musculoskeletal disease|Nervous system disease Nemaline myopathy 6 MESH:C538398 DO:DOID:0110935|OMIM:609273 MESH:D017696 C05.651.575.290/C538398|C10.668.491.550.290/C538398 C05.651.575.290|C10.668.491.550.290 NEM6 Musculoskeletal disease|Nervous system disease Nemaline Myopathy 7 MESH:C565198 DO:DOID:0110934|OMIM:610687 MESH:D017696 C05.651.575.290/C565198|C10.668.491.550.290/C565198 C05.651.575.290|C10.668.491.550.290 NEM7 Musculoskeletal disease|Nervous system disease NEMALINE MYOPATHY 8 OMIM:615348 DO:DOID:0110930 MESH:D017696 C05.651.575.290/615348|C10.668.491.550.290/615348 C05.651.575.290|C10.668.491.550.290 NEM8 Musculoskeletal disease|Nervous system disease NEMALINE MYOPATHY 9 OMIM:615731 DO:DOID:0110929 MESH:D017696 C05.651.575.290/615731|C10.668.491.550.290/615731 C05.651.575.290|C10.668.491.550.290 NEM9 Musculoskeletal disease|Nervous system disease Nematode Infections MESH:D009349 Infections by nematodes, general or unspecified. MESH:D006373 C01.610.335.508 C01.610.335 Infection, Nematode|Infections, Nematode|Nematode Infection Parasitic disease NEMO mutation with immunodeficiency MESH:C538399 MESH:D000081207|MESH:D004476|MESH:D040181 C16.131.077.350/C538399|C16.131.831.350/C538399|C16.320.322/C538399|C16.320.798/C538399|C16.320.850.250/C538399|C17.800.804.350/C538399|C17.800.827.250/C538399|C20.673.795/C538399 C16.131.077.350|C16.131.831.350|C16.320.322|C16.320.798|C16.320.850.250|C17.800.804.350|C17.800.827.250|C20.673.795 NF-kappa B essential modulator (NEMO) mutation with immunodeficiency Congenital abnormality|Genetic disease (inborn)|Immune system disease|Skin disease Neointima MESH:D058426 The new and thickened layer of scar tissue that forms on a PROSTHESIS, or as a result of vessel injury especially following ANGIOPLASTY or stent placement. MESH:D010335 C23.550.722 C23.550 Formation, Neointima|Neointima Formation|Neointimas Pathology (process) Neonatal Abstinence Syndrome MESH:D009357 DO:DOID:9828 Fetal and neonatal addiction and withdrawal as a result of the mother's dependence on drugs during pregnancy. Withdrawal or abstinence symptoms develop shortly after birth. Symptoms exhibited are loud, high-pitched crying, sweating, yawning and gastrointestinal disturbances. MESH:D007232|MESH:D019966 C16.614.610|C25.775.650|F03.900.650 C16.614|C25.775|F03.900 Abstinence Syndrome, Neonatal|Abstinence Syndromes, Neonatal|Addiction, Neonatal Passive|Addictions, Neonatal Passive|Neonatal Abstinence Syndromes|Neonatal Passive Addiction|Neonatal Passive Addictions|Neonatal Substance Withdrawal|Neonatal Substance Withdrawals|Neonatal Withdrawal Syndrome|Neonatal Withdrawal Syndromes|Passive Addiction, Neonatal|Passive Addictions, Neonatal|Substance Withdrawal, Neonatal|Substance Withdrawals, Neonatal|Syndrome, Neonatal Abstinence|Syndrome, Neonatal Withdrawal|Syndromes, Neonatal Abstinence|Syndromes, Neonatal Withdrawal|Withdrawal, Neonatal Substance|Withdrawal Syndrome, Neonatal|Withdrawal Syndromes, Neonatal Infant-newborn disease|Mental disorder|Substance-related disorder Neonatal Brachial Plexus Palsy MESH:D000076984 Perinatal nerve injury involving the BRACHIAL PLEXUS involving a weak or paralyzed upper extremity. MESH:D001720|MESH:D020516 C10.668.829.100.750|C16.614.131.294|C26.141.294 C10.668.829.100|C16.614.131|C26.141 Obstetrical Brachial Plexus Lesion|Obstetrical Brachial Plexus Palsy Infant-newborn disease|Nervous system disease|Wounds and injuries Neonatal hemochromatosis MESH:C536394 OMIM:231100 MESH:D006432 C16.320.565.618.337/C536394|C18.452.565.500.480/C536394|C18.452.648.618.337/C536394 C16.320.565.618.337|C18.452.565.500.480|C18.452.648.618.337 Alloimmune Hepatitis, Congenital|Giant cell hepatitis|GIANT CELL HEPATITIS, FORMERLY|Hemochromatosis, Neonatal|Idiopathic Neonatal Hemochromatosis|Neonatal hepatitis|NEONATAL HEPATITIS, FORMERLY|NH|NHC|PIGCH post infantile giant cell hepatitis Genetic disease (inborn)|Metabolic disease Neonatal herpes MESH:C536395 MESH:D006561|MESH:D011251 C01.674/C536395|C01.925.256.466.382/C536395|C01.925.825.320/C536395|C12.050.703.700/C536395|C17.800.838.790.320/C536395 C01.674|C01.925.256.466.382|C01.925.825.320|C12.050.703.700|C17.800.838.790.320 Neonatal herpes simplex virus infection|Neonatal HSV infection Pregnancy complication|Skin disease|Viral disease Neonatal-onset citrullinemia type 2 MESH:C536398 OMIM:605814 MESH:D020159 C10.228.140.163.100.937.374/C536398|C16.320.565.100.940.374/C536398|C16.320.565.189.937.374/C536398|C18.452.132.100.937.374/C536398|C18.452.648.100.940.374/C536398|C18.452.648.189.937.374/C536398 C10.228.140.163.100.937.374|C16.320.565.100.940.374|C16.320.565.189.937.374|C18.452.132.100.937.374|C18.452.648.100.940.374|C18.452.648.189.937.374 Cholestasis, Neonatal Intrahepatic, caused by Citrin Deficiency|Citrullinemia, Type II, Neonatal-Onset|CITRULLINEMIA, TYPE II, NEONATAL-ONSET, WITH OR WITHOUT FAILURE TO THRIVE AND DYSLIPIDEMIA|Neonatal intrahepatic cholestasis caused by citrin deficiency|Neonatal-onset citrullinemia type II|NICCD Genetic disease (inborn)|Metabolic disease|Nervous system disease Neonatal ovarian cyst MESH:C536396 MESH:D010048 C04.182.612/C536396|C12.050.351.500.056.630.580/C536396|C12.100.250.056.630.580/C536396|C19.391.630.580/C536396 C04.182.612|C12.050.351.500.056.630.580|C12.100.250.056.630.580|C19.391.630.580 Fetal ovarian cyst Cancer|Endocrine system disease|Urogenital disease (female) Neonatal Sepsis MESH:D000071074 Blood infection that occurs in an infant younger than 90 days old. Early-onset sepsis is seen in the first week of life and most often appears within 24 hours of birth. Late-onset occurs after 1 week and before 3 months of age. MESH:D007232|MESH:D018805 C01.757.580|C16.614.627|C23.550.470.790.500.470 C01.757|C16.614|C23.550.470.790.500 Early-Onset Sepses, Neonatal|Early-Onset Sepsis, Neonatal|Late-Onset Sepses, Neonatal|Late-Onset Sepsis, Neonatal|Neonatal Early-Onset Sepses|Neonatal Early Onset Sepsis|Neonatal Early-Onset Sepsis|Neonatal Late-Onset Sepses|Neonatal Late Onset Sepsis|Neonatal Late-Onset Sepsis|Neonatal Sepses|Sepses, Neonatal|Sepses, Neonatal Early-Onset|Sepses, Neonatal Late-Onset|Sepsis, Neonatal|Sepsis, Neonatal Early-Onset|Sepsis, Neonatal Late-Onset Infant-newborn disease|Pathology (process) Neonatal Systemic lupus erythematosus MESH:C536397 MESH:D008180 C17.300.480/C536397|C20.111.590/C536397 C17.300.480|C20.111.590 Neonatal lupus|Neonatal lupus syndrome Connective tissue disease|Immune system disease Neoplasm Invasiveness MESH:D009361 Ability of neoplasms to infiltrate and actively destroy surrounding tissue. MESH:D009385 C04.697.645|C23.550.727.645 C04.697|C23.550.727 Invasion, Neoplasm|Invasiveness, Neoplasm|Neoplasm Invasion Cancer|Pathology (process) Neoplasm Metastasis MESH:D009362 The transfer of a neoplasm from one organ or part of the body to another remote from the primary site. MESH:D009385 C04.697.650|C23.550.727.650 C04.697|C23.550.727 Metastase|Metastases|Metastases, Neoplasm|Metastasis|Metastasis, Neoplasm|Neoplasm Metastases Cancer|Pathology (process) Neoplasm Micrometastasis MESH:D061206 Newly arising secondary tumors so small they are difficult to detect by physical examination or routine imaging techniques. MESH:D009362 C04.697.650.695|C23.550.727.650.695 C04.697.650|C23.550.727.650 Micrometastase, Neoplasm|Micrometastases|Micrometastases, Neoplasm|Micrometastasis|Micrometastasis, Neoplasm|Neoplasm Micrometastase|Neoplasm Micrometastases Cancer|Pathology (process) Neoplasm Recurrence, Local MESH:D009364 The local recurrence of a neoplasm following treatment. It arises from microscopic cells of the original neoplasm that have escaped therapeutic intervention and later become clinically visible at the original site. MESH:D009385 C04.697.655|C23.550.727.655 C04.697|C23.550.727 Local Neoplasm Recurrence|Local Neoplasm Recurrences|Locoregional Neoplasm Recurrence|Locoregional Neoplasm Recurrences|Neoplasm Recurrence, Locoregional|Neoplasm Recurrences, Local|Neoplasm Recurrences, Locoregional|Recurrence, Local Neoplasm|Recurrence, Locoregional Neoplasm|Recurrences, Local Neoplasm|Recurrences, Locoregional Neoplasm Cancer|Pathology (process) Neoplasm Regression, Spontaneous MESH:D009365 Disappearance of a neoplasm or neoplastic state without the intervention of therapy. MESH:D009385 C04.697.670|C23.550.727.670 C04.697|C23.550.727 Neoplasm Remission, Spontaneous|Regression, Spontaneous Neoplasm|Remission, Spontaneous Neoplasm|Spontaneous Neoplasm Regression|Spontaneous Neoplasm Remission Cancer|Pathology (process) Neoplasm, Residual MESH:D018365 Remnant of a tumor or cancer after primary, potentially curative therapy. MESH:D009385 C04.697.700|C23.550.727.700 C04.697|C23.550.727 Cancer, Residual|Minimal Disease, Residual|Minimal Residual Disease|Minimal Residual Diseases|Residual Cancer|Residual Cancers|Residual Disease, Minimal|Residual Minimal Disease|Residual Minimal Diseases|Residual Neoplasm|Residual Neoplasms|Residual Tumor|Residual Tumors|Residual Tumour|Residual Tumours|Tumour, Residual Cancer|Pathology (process) Neoplasms MESH:D009369 DO:DOID:162 New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms. MESH:C C04 C Benign Neoplasm|Benign Neoplasms|Cancer|Cancers|Malignancies|Malignancy|Malignant Neoplasm|Malignant Neoplasms|Neoplasia|Neoplasias|Neoplasm|Neoplasm, Benign|Neoplasm, Malignant|Neoplasms, Benign|Neoplasms, Malignant|Tumor|Tumors Cancer Neoplasms, Adipose Tissue MESH:D018205 DO:DOID:3315 Neoplasms composed of fatty tissue or connective tissue made up of fat cells in a meshwork of areolar tissue. The concept does not refer to neoplasms located in adipose tissue. MESH:D018204 C04.557.450.550 C04.557.450 Adipose Tissue Neoplasm|Adipose Tissue Neoplasms|Neoplasm, Adipose Tissue Cancer Neoplasms, Adnexal and Skin Appendage MESH:D018294 Neoplasms composed of sebaceous or sweat gland tissue or tissue of other skin appendages. The concept does not refer to neoplasms located in the sebaceous or sweat glands or in the other skin appendages. MESH:D009375 C04.557.470.550 C04.557.470 Adnexal and Skin Appendage Neoplasms Cancer Neoplasms, Basal Cell MESH:D018295 DO:DOID:2513 Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale. MESH:D009375 C04.557.470.565 C04.557.470 Basal Cell Cancer|Basal Cell Cancers|Basal Cell Neoplasm|Basal Cell Neoplasms|Cancer, Basal Cell|Cancers, Basal Cell|Cell Cancer, Basal|Cell Cancers, Basal|Cell Neoplasm, Basal|Cell Neoplasms, Basal|Neoplasm, Basal Cell Cancer Neoplasms, Bone Tissue MESH:D018213 DO:DOID:3347 Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones. MESH:D009372 C04.557.450.565.575 C04.557.450.565 Bone Tissue Neoplasm|Bone Tissue Neoplasms|Bony Tissue Neoplasm|Bony Tissue Neoplasms|Neoplasm, Bone Tissue|Neoplasm, Bony Tissue|Neoplasms, Bony Tissue|Tissue Neoplasm, Bone|Tissue Neoplasm, Bony|Tissue Neoplasms, Bone|Tissue Neoplasms, Bony Cancer Neoplasms by Histologic Type MESH:D009370 A collective term for the various histological types of NEOPLASMS. It is more likely to be used by searchers than by indexers and catalogers. MESH:D009369 C04.557 C04 Histological Type of Neoplasm|Histological Types of Neoplasms|Neoplasm Histological Type|Neoplasm Histological Types|Neoplasms by Histological Type|Neoplasms Histological Type|Neoplasms Histological Types Cancer Neoplasms by Site MESH:D009371 DO:DOID:0050686 A collective term for precoordinated organ/neoplasm headings locating neoplasms by organ, as BRAIN NEOPLASMS; DUODENAL NEOPLASMS; LIVER NEOPLASMS; etc. MESH:D009369 C04.588 C04 Neoplasms by Sites|Neoplasm Site|Neoplasm Sites|Site, Neoplasm|Sites, Neoplasm Cancer Neoplasms, Complex and Mixed MESH:D018193 Neoplasms composed of more than one type of neoplastic tissue. MESH:D009370 C04.557.435 C04.557 Complex and Mixed Neoplasms Cancer Neoplasms, Connective and Soft Tissue MESH:D018204 Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue. MESH:D009370 C04.557.450 C04.557 Connective and Soft Tissue Neoplasms Cancer Neoplasms, Connective Tissue MESH:D009372 DO:DOID:201 Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. MESH:D003240|MESH:D018204 C04.557.450.565|C17.300.680 C04.557.450|C17.300 Connective Tissue Neoplasm|Connective Tissue Neoplasms|Neoplasm, Connective Tissue Cancer|Connective tissue disease Neoplasms, Cystic, Mucinous, and Serous MESH:D018297 Neoplasms containing cyst-like formations or producing mucin or serum. MESH:D009375 C04.557.470.590 C04.557.470 Cystic, Mucinous, and Serous Neoplasms|Cystic Neoplasm|Cystic Neoplasms|Mucinous Neoplasm|Mucinous Neoplasms|Neoplasm, Cystic|Neoplasm, Mucinous|Neoplasms, Cystic|Neoplasm, Serous|Neoplasms, Mucinous|Neoplasms, Serous|Serous Neoplasm|Serous Neoplasms Cancer Neoplasms, Ductal, Lobular, and Medullary MESH:D018299 Neoplasms, usually carcinoma, located within the center of an organ or within small lobes, and in the case of the breast, intraductally. The emphasis of the name is on the location of the neoplastic tissue rather than on its histological type. Most cancers of this type are located in the breast. MESH:D009375 C04.557.470.615 C04.557.470 Ductal, Lobular, and Medullary Neoplasms Cancer Neoplasm Seeding MESH:D009366 The local implantation of tumor cells by contamination of instruments and surgical equipment during and after surgical resection, resulting in local growth of the cells and tumor formation. MESH:D009362 C04.697.650.830|C23.550.727.650.830 C04.697.650|C23.550.727.650 Seeding, Neoplasm Cancer|Pathology (process) Neoplasms, Experimental MESH:D009374 Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms. MESH:D009369 C04.619 C04 Experimental Neoplasm|Experimental Neoplasms|Neoplasm, Experimental Cancer Neoplasms, Fibroepithelial MESH:D018225 Neoplasms composed of fibrous and epithelial tissue. The concept does not refer to neoplasms located in fibrous tissue or epithelium. MESH:D009375|MESH:D018218 C04.557.450.565.590.595|C04.557.470.625 C04.557.450.565.590|C04.557.470 Fibroepithelial Neoplasm|Fibroepithelial Neoplasms|Neoplasm, Fibroepithelial Cancer Neoplasms, Fibrous Tissue MESH:D018218 DO:DOID:3355 Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue. MESH:D009372 C04.557.450.565.590 C04.557.450.565 Fibrous Tissue Neoplasm|Fibrous Tissue Neoplasms|Neoplasm, Fibrous Tissue Cancer Neoplasms, Germ Cell and Embryonal MESH:D009373 DO:DOID:2994|DO:DOID:3095|DO:DOID:688 Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS. MESH:D009370 C04.557.465 C04.557 Cancer, Embryonal|Cancer, Embryonal and Mixed|Cancer, Germ Cell|Cancers, Embryonal|Cancers, Germ Cell|Embryonal Cancer|Embryonal Cancers|Embryonal Neoplasm|Embryonal Neoplasms|Germ Cell and Embryonal Neoplasms|Germ Cell and Embryonic Neoplasms|Germ Cell Cancer|Germ Cell Cancers|Germ Cell Neoplasms|Germ Cell Tumor|Germ Cell Tumors|Neoplasm, Embryonal|Neoplasms, Embryonal|Neoplasms, Embryonal and Mixed|Neoplasms, Germ Cell|Neoplasms, Germ Cell and Embryonic|Tumor, Germ Cell|Tumors, Germ Cell Cancer Neoplasms, Glandular and Epithelial MESH:D009375 DO:DOID:305 Neoplasms composed of glandular tissue, an aggregation of epithelial cells that elaborate secretions, and of any type of epithelium itself. The concept does not refer to neoplasms located in the various glands or in epithelial tissue. MESH:D009370 C04.557.470 C04.557 Cell Neoplasm, Epithelial|Cell Neoplasm, Glandular|Cell Neoplasms, Epithelial|Epithelial Cell Neoplasm|Epithelial Cell Neoplasms|Epithelial Neoplasm|Epithelial Neoplasm, Glandular|Epithelial Neoplasms|Glandular and Epithelial Neoplasms|Glandular Cell Neoplasm|Glandular Cell Neoplasms|Glandular Epithelial Neoplasm|Glandular Epithelial Neoplasms|Glandular Neoplasm|Glandular Neoplasms|Neoplasm, Epithelial|Neoplasm, Epithelial Cell|Neoplasm, Glandular|Neoplasm, Glandular Cell|Neoplasm, Glandular Epithelial|Neoplasms, Epithelial|Neoplasms, Glandular|Neoplasms, Glandular Epithelial Cancer Neoplasms, Gonadal Tissue MESH:D018309 Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells. MESH:D009370 C04.557.475 C04.557 Gonadal Tissue Neoplasm|Gonadal Tissue Neoplasms|Neoplasm, Gonadal Tissue|Tissue Neoplasm, Gonadal|Tissue Neoplasms, Gonadal Cancer Neoplasms, Hormone-Dependent MESH:D009376 Certain tumors that 1, arise in organs that are normally dependent on specific hormones and 2, are stimulated or caused to regress by manipulation of the endocrine environment. MESH:D009369 C04.626 C04 Hormone-Dependent Neoplasm|Hormone Dependent Neoplasms|Hormone-Dependent Neoplasms|Neoplasm, Hormone-Dependent|Neoplasms, Hormone Dependent Cancer Neoplasms, Mesothelial MESH:D018301 Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed) MESH:D009375 C04.557.470.660 C04.557.470 Mesothelial Neoplasm|Mesothelial Neoplasms|Neoplasm, Mesothelial Cancer Neoplasms, Multiple Primary MESH:D009378 Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites. MESH:D009369 C04.651 C04 Multiple Primary Neoplasm|Multiple Primary Neoplasms|Multiple Primary Neoplasms, Synchronous|Neoplasm, Multiple Primary|Neoplasms, Synchronous|Neoplasms, Synchronous Multiple Primary|Neoplasm, Synchronous|Primary Neoplasm, Multiple|Primary Neoplasms, Multiple|Synchronous Multiple Primary Neoplasms|Synchronous Neoplasm|Synchronous Neoplasms Cancer Neoplasms, Muscle Tissue MESH:D009379 DO:DOID:461|DO:DOID:5039 Neoplasms composed of muscle tissue: skeletal, cardiac, or smooth. The concept does not refer to neoplasms located in muscles. MESH:D018204 C04.557.450.590 C04.557.450 Muscle Tissue Neoplasm|Muscle Tissue Neoplasms|Myoblastoma|Myoblastomas|Myofibroblastoma|Myofibroblastomas|Neoplasm, Muscle Tissue Cancer Neoplasms, Nerve Tissue MESH:D009380 DO:DOID:3093 Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves. MESH:D009370 C04.557.580 C04.557 Neoplasm, Nerve Tissue|Neoplasm, Nervous Tissue|Neoplasms, Nervous Tissue|Nerve Tissue Neoplasm|Nerve Tissue Neoplasms|Nervous Tissue Neoplasm|Nervous Tissue Neoplasms Cancer Neoplasms, Neuroepithelial MESH:D018302 DO:DOID:6128|DO:DOID:7305 Neoplasms composed of neuroepithelial cells, which have the capacity to differentiate into NEURONS, oligodendrocytes, and ASTROCYTES. The majority of craniospinal tumors are of neuroepithelial origin. (From Dev Biol 1998 Aug 1;200(1):1-5) MESH:D009375|MESH:D017599 C04.557.465.625.600|C04.557.470.670|C04.557.580.625.600 C04.557.465.625|C04.557.470|C04.557.580.625 Astroblastoma|Astroblastomas|Ependymoastrocytoma|Ependymoastrocytomas|Gliomatosis Cerebri|Neoplasm, Neuroepithelial|Neuroepithelial Neoplasm|Neuroepithelial Neoplasms|Neuroepithelial Tumor|Neuroepithelial Tumors|Polar Spongioblastoma|Polar Spongioblastomas|Spongioblastoma, Polar|Spongioblastomas, Polar|Tumor, Neuroepithelial|Tumors, Neuroepithelial Cancer Neoplasms, Plasma Cell MESH:D054219 Neoplasms associated with a proliferation of a single clone of PLASMA CELLS and characterized by the secretion of PARAPROTEINS. MESH:D009370 C04.557.595 C04.557 Neoplasm, Plasma Cell|Plasma Cell Neoplasm|Plasma Cell Neoplasms Cancer Neoplasms, Post-Traumatic MESH:D017169 Tumors, cancer or other neoplasms caused by or resulting from trauma or other non-radiation injuries. MESH:D009369 C04.666 C04 Cancer, Post-Traumatic|Cancers, Post-Traumatic|Malignancies, Post Traumatic|Malignancies, Post-Traumatic|Malignancy, Post-Traumatic|Neoplasm, Post-Traumatic|Neoplasms, Post Traumatic|Post Traumatic Cancer|Post-Traumatic Cancer|Post-Traumatic Cancers|Post-Traumatic Malignancies|Post-Traumatic Malignancy|Post-Traumatic Neoplasm|Post Traumatic Neoplasms|Post-Traumatic Neoplasms Cancer Neoplasms, Radiation-Induced MESH:D009381 Tumors, cancer or other neoplasms produced by exposure to ionizing or non-ionizing radiation. MESH:D009369|MESH:D011832 C04.682|C26.733.476 C04|C26.733 Cancer, Radiation Induced|Cancer, Radiation-Induced|Cancers, Radiation-Induced|Neoplasm, Radiation-Induced|Neoplasms, Radiation Induced|Radiation Induced Cancer|Radiation-Induced Cancer|Radiation-Induced Cancers|Radiation-Induced Neoplasm|Radiation Induced Neoplasms|Radiation-Induced Neoplasms Cancer|Wounds and injuries Neoplasms, Second Primary MESH:D016609 Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause. MESH:D009369 C04.692 C04 Cancer, Second|Cancer, Second Primary|Cancers, Second|Cancers, Second Primary|Cancers, Therapy-Associated|Cancers, Therapy-Related|Cancers, Treatment-Associated|Cancers, Treatment-Related|Cancer, Therapy-Associated|Cancer, Therapy-Related|Cancer, Treatment-Associated|Cancer, Treatment-Related|Malignancies, Second|Malignancy, Second|Metachronous Neoplasm|Metachronous Neoplasms|Metachronous Second Primary Neoplasms|Neoplasm, Metachronous|Neoplasm, Second|Neoplasm, Second Primary|Neoplasms, Metachronous|Neoplasms, Metachronous Second Primary|Neoplasms, Second|Neoplasms, Therapy Associated|Neoplasms, Therapy-Associated|Neoplasms, Therapy Related|Neoplasms, Therapy-Related|Neoplasms, Treatment Associated|Neoplasms, Treatment-Associated|Neoplasms, Treatment Related|Neoplasms, Treatment-Related|Neoplasm, Therapy-Associated|Neoplasm, Therapy-Related|Neoplasm, Treatment-Associated|Neoplasm, Treatment-Related|Second Cancer|Second Cancers|Second Malignancies|Second Malignancy|Second Neoplasm|Second Neoplasms|Second Primary Cancer|Second Primary Cancers|Second Primary Neoplasm|Second Primary Neoplasms|Second Primary Neoplasms, Metachronous|Therapy Associated Cancer|Therapy-Associated Cancer|Therapy-Associated Cancers|Therapy-Associated Neoplasm|Therapy Associated Neoplasms|Therapy-Associated Neoplasms|Therapy Related Cancer|Therapy-Related Cancer|Therapy-Related Cancers|Therapy-Related Neoplasm|Therapy Related Neoplasms|Therapy-Related Neoplasms|Treatment Associated Cancer|Treatment-Associated Cancer|Treatment-Associated Cancers|Treatment-Associated Neoplasm|Treatment Associated Neoplasms|Treatment-Associated Neoplasms|Treatment Related Cancer|Treatment-Related Cancer|Treatment-Related Cancers|Treatment-Related Neoplasm|Treatment Related Neoplasms|Treatment-Related Neoplasms Cancer Neoplasms, Squamous Cell MESH:D018307 DO:DOID:1749|DO:DOID:3168 Neoplasms of the SQUAMOUS EPITHELIAL CELLS. The concept does not refer to neoplasms located in tissue composed of squamous elements. MESH:D009375 C04.557.470.700 C04.557.470 Cancer, Squamous Cell|Cancers, Squamous Cell|Cell Cancer, Squamous|Cell Cancers, Squamous|Cell Neoplasm, Squamous|Cell Neoplasms, Squamous|Neoplasm, Squamous Cell|Squamous Cell Cancer|Squamous Cell Cancers|Squamous Cell Neoplasm|Squamous Cell Neoplasms Cancer Neoplasms, Unknown Primary MESH:D009382 Metastases in which the tissue of origin is unknown. MESH:D009362 C04.697.650.895|C23.550.727.650.895 C04.697.650|C23.550.727.650 Neoplasm Metastasis, Unknown Primary|Neoplasm, Occult Primary|Neoplasms, Occult Primary|Neoplasm, Unknown Primary|Occult Primary Neoplasm|Occult Primary Neoplasms|Primary Neoplasm, Occult|Primary Neoplasms, Occult|Primary Neoplasms, Unknown|Primary Neoplasm, Unknown|Primary Tumors, Unknown|Primary Tumor, Unknown|Tumors, Unknown Primary|Tumor, Unknown Primary|Unknown Primary Neoplasm|Unknown Primary Neoplasm Metastasis|Unknown Primary Neoplasms|Unknown Primary Tumor|Unknown Primary Tumors Cancer|Pathology (process) Neoplasms, Vascular Tissue MESH:D009383 Neoplasms composed of vascular tissue. This concept does not refer to neoplasms located in blood vessels. MESH:D009370 C04.557.645 C04.557 Blood Vessel Tumor|Blood Vessel Tumors|Neoplasm, Vascular Tissue|Tumor, Blood Vessel|Tumors, Blood Vessel|Vascular Tissue Neoplasm|Vascular Tissue Neoplasms Cancer Neoplastic Cells, Circulating MESH:D009360 Exfoliate neoplastic cells circulating in the blood and associated with metastasizing tumors. MESH:D009362 C04.697.650.900|C23.550.727.650.900 C04.697.650|C23.550.727.650 Cell, Circulating Neoplastic|Cell, Circulating Tumor|Cell, Embolic Tumor|Cell, Neoplasm Circulating|Cells, Circulating Neoplastic|Cells, Circulating Tumor|Cells, Embolic Tumor|Cells, Neoplasm Circulating|Circulating Cells, Neoplasm|Circulating Neoplastic Cell|Circulating Neoplastic Cells|Circulating Tumor Cell|Circulating Tumor Cells|Embolic Tumor Cell|Embolic Tumor Cells|Embolisms, Tumor|Embolism, Tumor|Neoplasm Circulating Cell|Neoplasm Circulating Cells|Neoplastic Cell, Circulating|Tumor Cell, Circulating|Tumor Cell, Embolic|Tumor Cells, Circulating|Tumor Cells, Embolic|Tumor Embolism|Tumor Embolisms Cancer|Pathology (process) Neoplastic Processes MESH:D009385 The pathological mechanisms and forms taken by tissue during degeneration into a neoplasm and its subsequent activity. MESH:D009369|MESH:D010335 C04.697|C23.550.727 C04|C23.550 Processes, Neoplastic Cancer|Pathology (process) Neoplastic Syndromes, Hereditary MESH:D009386 The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. MESH:D009369|MESH:D030342 C04.700|C16.320.700 C04|C16.320 Cancer Syndrome, Hereditary|Cancer Syndromes, Hereditary|Hereditary Cancer Syndrome|Hereditary Cancer Syndromes|Hereditary Neoplastic Syndrome|Hereditary Neoplastic Syndromes|Neoplastic Syndrome, Hereditary|Syndrome, Hereditary Cancer|Syndrome, Hereditary Neoplastic|Syndromes, Hereditary Cancer|Syndromes, Hereditary Neoplastic Cancer|Genetic disease (inborn) Neovascularization, Pathologic MESH:D009389 A pathologic process consisting of the proliferation of blood vessels in abnormal tissues or in abnormal positions. MESH:D008679 C23.550.589.500 C23.550.589 Angiogenesis, Pathologic|Angiogenesis, Pathological|Neovascularization, Pathological|Pathological Angiogenesis|Pathological Neovascularization|Pathologic Angiogenesis|Pathologic Neovascularization Pathology (process) Nephritis MESH:D009393 DO:DOID:10952 Inflammation of any part of the KIDNEY. MESH:D007674 C12.050.351.968.419.570|C12.200.777.419.570|C12.950.419.570 C12.050.351.968.419|C12.200.777.419|C12.950.419 Nephritides Urogenital disease (female)|Urogenital disease (male) Nephritis, Hereditary MESH:D009394 DO:DOID:10983 A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE. MESH:D003095|MESH:D009393|MESH:D014564 C12.050.351.875.742|C12.050.351.968.419.570.620|C12.200.706.742|C12.200.777.419.570.620|C12.800.742|C12.950.419.570.620|C16.131.939.742|C17.300.200.517 C12.050.351.875|C12.050.351.968.419.570|C12.200.706|C12.200.777.419.570|C12.800|C12.950.419.570|C16.131.939|C17.300.200 Alport's Syndrome|Alport Syndrome|Alport Syndrome, Autosomal Dominant|Alport Syndrome, Autosomal Recessive|Alport Syndrome, X Linked|Alport Syndrome, X-Linked|Congenital Hereditary Hematuria|Familial Nephritis|Hematuria, Congenital Hereditary|Hematuria Nephropathy Deafness Syndrome|Hematuria-Nephropathy-Deafness Syndrome|Hematuric Hereditary Nephritis|Hemorrhagic Familial Nephritis|Hemorrhagic Hereditary Nephritis|Hereditary Familial Congenital Hemorrhagic Nephritis|Hereditary Hematuria Syndrome|Hereditary Interstitial Pyelonephritis|Hereditary Nephritis|Nephritis, Familial|Nephritis, Hematuric Hereditary|Nephritis, Hemorrhagic Familial|Nephritis, Hemorrhagic Hereditary|Pyelonephritis, Hereditary Interstitial|Syndrome, Alport|Syndrome, Hematuria-Nephropathy-Deafness|X-Linked Alport Syndrome Congenital abnormality|Connective tissue disease|Urogenital disease (female)|Urogenital disease (male) Nephritis, Interstitial MESH:D009395 DO:DOID:1063 Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction. MESH:D009393 C12.050.351.968.419.570.643|C12.200.777.419.570.643|C12.950.419.570.643 C12.050.351.968.419.570|C12.200.777.419.570|C12.950.419.570 Interstitial Nephritides|Interstitial Nephritis|Nephritides, Interstitial|Nephritides, Tubulointerstitial|Nephritis, Tubulointerstitial|Tubulointerstitial Nephritides|Tubulointerstitial Nephritis Urogenital disease (female)|Urogenital disease (male) Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor MESH:C536399 DO:DOID:0060476|OMIM:267000 MESH:D005320|MESH:D009396 C04.557.435.595/C536399|C04.588.945.947.535.585/C536399|C04.700.900/C536399|C12.050.351.937.820.535.585/C536399|C12.050.351.968.419.473.585/C536399|C12.050.703.170.500/C536399|C12.050.703.277.570/C536399|C12.050.703.726.570/C536399|C12.200.758.820.750.585/C536399|C12.200.777.419.473.585/C536399|C12.900.820.535.585/C536399|C12.950.419.473.585/C536399|C12.950.983.535.585/C536399|C16.300.570/C536399|C16.320.700.900/C536399|C19.246.099.968/C536399|C23.888.144.186.500/C536399 C04.557.435.595|C04.588.945.947.535.585|C04.700.900|C12.050.351.937.820.535.585|C12.050.351.968.419.473.585|C12.050.703.170.500|C12.050.703.277.570|C12.050.703.726.570|C12.200.758.820.750.585|C12.200.777.419.473.585|C12.900.820.535.585|C12.950.419.473.585|C12.950.983.535.585|C16.300.570|C16.320.700.900|C19.246.099.968|C23.888.144.186.500 Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor|Perlman Syndrome|PRLMNS|Renal hamartomas, nephroblastomatosis, and fetal gigantism Cancer|Endocrine system disease|Fetal disease|Genetic disease (inborn)|Pregnancy complication|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Nephrocalcinosis MESH:D009397 DO:DOID:12679 A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY. MESH:D002114|MESH:D007674 C12.050.351.968.419.590|C12.200.777.419.590|C12.950.419.590|C18.452.174.130.560 C12.050.351.968.419|C12.200.777.419|C12.950.419|C18.452.174.130 Nephrocalcinoses Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Nephrogenic Fibrosing Dermopathy MESH:D054989 A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents. MESH:D005355|MESH:D012871 C17.800.553|C23.550.355.550 C17.800|C23.550.355 Dermopathies, Nephrogenic Fibrosing|Dermopathy, Nephrogenic Fibrosing|Fibroses, Nephrogenic Systemic|Fibrosing Dermopathies, Nephrogenic|Fibrosing Dermopathy, Nephrogenic|Fibrosis, Nephrogenic Systemic|Nephrogenic Fibrosing Dermopathies|Nephrogenic Systemic Fibroses|Nephrogenic Systemic Fibrosis|Systemic Fibroses, Nephrogenic|Systemic Fibrosis, Nephrogenic Pathology (process)|Skin disease Nephrogenic Syndrome of Inappropriate Antidiuresis MESH:C564491 DO:DOID:0112121|OMIM:300539 MESH:D007177|MESH:D040181 C10.228.140.617.738.320/C564491|C16.320.322/C564491|C18.452.950.626/C564491|C19.700.490/C564491 C10.228.140.617.738.320|C16.320.322|C18.452.950.626|C19.700.490 NSIAD Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Nephrolithiasis MESH:D053040 Formation of stones in the KIDNEY. MESH:D007674|MESH:D052878 C12.050.351.968.419.600|C12.050.351.968.967.249|C12.200.777.419.600|C12.200.777.967.249|C12.950.419.600|C12.950.967.249 C12.050.351.968.419|C12.050.351.968.967|C12.200.777.419|C12.200.777.967|C12.950.419|C12.950.967 Urogenital disease (female)|Urogenital disease (male) Nephrolithiasis, Calcium Oxalate MESH:C563477 OMIM:167030 MESH:D053040 C12.050.351.968.419.600/C563477|C12.050.351.968.967.249/C563477|C12.200.777.419.600/C563477|C12.200.777.967.249/C563477|C12.950.419.600/C563477|C12.950.967.249/C563477 C12.050.351.968.419.600|C12.050.351.968.967.249|C12.200.777.419.600|C12.200.777.967.249|C12.950.419.600|C12.950.967.249 CAON1|KIDNEY STONES|NEPHROLITHIASIS, CALCIUM OXALATE, 1|Urolithiasis, Calcium Oxalate Urogenital disease (female)|Urogenital disease (male) Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 MESH:C567363 DO:DOID:0080077 MESH:D010024|MESH:D015499|MESH:D017674|MESH:D053040 C05.116.198.579/C567363|C12.050.351.968.419.600/C567363|C12.050.351.968.419.815/C567363|C12.050.351.968.967.249/C567363|C12.200.777.419.600/C567363|C12.200.777.419.815/C567363|C12.200.777.967.249/C567363|C12.950.419.600/C567363|C12.950.419.815/C567363|C12.950.967.249/C567363|C16.320.565.893/C567363|C16.320.831/C567363|C18.452.104.579/C567363|C18.452.648.893/C567363|C18.452.750.400/C567363 C05.116.198.579|C12.050.351.968.419.600|C12.050.351.968.419.815|C12.050.351.968.967.249|C12.200.777.419.600|C12.200.777.419.815|C12.200.777.967.249|C12.950.419.600|C12.950.419.815|C12.950.967.249|C16.320.565.893|C16.320.831|C18.452.104.579|C18.452.648.893|C18.452.750.400 NPHLOP1 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 OMIM:612286 DO:DOID:0080077 MESH:D010024|MESH:D053040 C05.116.198.579/612286|C12.050.351.968.419.600/612286|C12.050.351.968.967.249/612286|C12.200.777.419.600/612286|C12.200.777.967.249/612286|C12.950.419.600/612286|C12.950.967.249/612286|C18.452.104.579/612286 C05.116.198.579|C12.050.351.968.419.600|C12.050.351.968.967.249|C12.200.777.419.600|C12.200.777.967.249|C12.950.419.600|C12.950.967.249|C18.452.104.579 NPHLOP1 Metabolic disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 MESH:C567362 DO:DOID:0080078 MESH:D010024|MESH:D015499|MESH:D017674|MESH:D053040 C05.116.198.579/C567362|C12.050.351.968.419.600/C567362|C12.050.351.968.419.815/C567362|C12.050.351.968.967.249/C567362|C12.200.777.419.600/C567362|C12.200.777.419.815/C567362|C12.200.777.967.249/C567362|C12.950.419.600/C567362|C12.950.419.815/C567362|C12.950.967.249/C567362|C16.320.565.893/C567362|C16.320.831/C567362|C18.452.104.579/C567362|C18.452.648.893/C567362|C18.452.750.400/C567362 C05.116.198.579|C12.050.351.968.419.600|C12.050.351.968.419.815|C12.050.351.968.967.249|C12.200.777.419.600|C12.200.777.419.815|C12.200.777.967.249|C12.950.419.600|C12.950.419.815|C12.950.967.249|C16.320.565.893|C16.320.831|C18.452.104.579|C18.452.648.893|C18.452.750.400 NPHLOP2 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 OMIM:612287 DO:DOID:0080078 MESH:D010024|MESH:D053040 C05.116.198.579/612287|C12.050.351.968.419.600/612287|C12.050.351.968.967.249/612287|C12.200.777.419.600/612287|C12.200.777.967.249/612287|C12.950.419.600/612287|C12.950.967.249/612287|C18.452.104.579/612287 C05.116.198.579|C12.050.351.968.419.600|C12.050.351.968.967.249|C12.200.777.419.600|C12.200.777.967.249|C12.950.419.600|C12.950.967.249|C18.452.104.579 NPHLOP2 Metabolic disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO OMIM:605990 DO:DOID:580 MESH:D007669 C12.050.351.968.419.600.500/605990|C12.050.351.968.967.249.500/605990|C12.050.351.968.967.500.503/605990|C12.200.777.419.600.500/605990|C12.200.777.967.249.500/605990|C12.200.777.967.500.503/605990|C12.950.419.600.500/605990|C12.950.967.249.500/605990|C12.950.967.500.503/605990|C23.300.175.850.550/605990 C12.050.351.968.419.600.500|C12.050.351.968.967.249.500|C12.050.351.968.967.500.503|C12.200.777.419.600.500|C12.200.777.967.249.500|C12.200.777.967.500.503|C12.950.419.600.500|C12.950.967.249.500|C12.950.967.500.503|C23.300.175.850.550 UAN|UROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Nephrolithiasis, X-Linked Recessive, with Renal Failure MESH:C562901 OMIM:310468 MESH:D040181|MESH:D051437|MESH:D053040 C12.050.351.968.419.600/C562901|C12.050.351.968.419.780/C562901|C12.050.351.968.967.249/C562901|C12.200.777.419.600/C562901|C12.200.777.419.780/C562901|C12.200.777.967.249/C562901|C12.950.419.600/C562901|C12.950.419.780/C562901|C12.950.967.249/C562901|C16.320.322/C562901 C12.050.351.968.419.600|C12.050.351.968.419.780|C12.050.351.968.967.249|C12.200.777.419.600|C12.200.777.419.780|C12.200.777.967.249|C12.950.419.600|C12.950.419.780|C12.950.967.249|C16.320.322 Nephrolithiasis 1|Nephrolithiasis, X-Linked Recessive, Type 1|NPHL1|Urolithiasis, X-Linked Recessive, Type 1|XRN Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Nephroma, Mesoblastic MESH:D018201 DO:DOID:4773 A solid, unencapsulated tumor of the KIDNEY composed of spindle mesenchymal cells that resemble FIBROBLASTS or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult. MESH:D007680|MESH:D018193 C04.557.435.600|C04.588.945.947.535.790|C12.050.351.937.820.535.790|C12.050.351.968.419.473.372|C12.200.758.820.750.372|C12.200.777.419.473.372|C12.900.820.535.790|C12.950.419.473.372|C12.950.983.535.790 C04.557.435|C04.588.945.947.535|C12.050.351.937.820.535|C12.050.351.968.419.473|C12.200.758.820.750|C12.200.777.419.473|C12.900.820.535|C12.950.419.473|C12.950.983.535 Congenital Mesoblastic Nephroma|Congenital Mesoblastic Nephromas|Mesoblastic Nephroma|Mesoblastic Nephroma, Congenital|Mesoblastic Nephromas, Congenital|Nephroma, Congenital Mesoblastic|Nephromas, Congenital Mesoblastic|Nephromas, Mesoblastic Cancer|Urogenital disease (female)|Urogenital disease (male) NEPHRONOPHTHISIS 11 OMIM:613550 DO:DOID:0111118 MESH:D052177 C12.050.351.968.419.403/613550|C12.200.777.419.403/613550|C12.950.419.403/613550 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 NPHP11 Urogenital disease (female)|Urogenital disease (male) NEPHRONOPHTHISIS 12 OMIM:613820 DO:DOID:0111119 MESH:D052177 C12.050.351.968.419.403/613820|C12.200.777.419.403/613820|C12.950.419.403/613820 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 JBTS11, INCLUDED|JOUBERT SYNDROME 11, INCLUDED|NPHP12 Urogenital disease (female)|Urogenital disease (male) NEPHRONOPHTHISIS 14 OMIM:614844 DO:DOID:0111122 MESH:D052177 C12.050.351.968.419.403/614844|C12.200.777.419.403/614844|C12.950.419.403/614844 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 JBTS19, INCLUDED|JOUBERT SYNDROME 19, INCLUDED|NPHP14 Urogenital disease (female)|Urogenital disease (male) NEPHRONOPHTHISIS 15 OMIM:614845 DO:DOID:0111123 MESH:D052177 C12.050.351.968.419.403/614845|C12.200.777.419.403/614845|C12.950.419.403/614845 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 NPHP15 Urogenital disease (female)|Urogenital disease (male) NEPHRONOPHTHISIS 16 OMIM:615382 DO:DOID:0111124 MESH:D052177 C12.050.351.968.419.403/615382|C12.200.777.419.403/615382|C12.950.419.403/615382 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 NPHP16 Urogenital disease (female)|Urogenital disease (male) NEPHRONOPHTHISIS 18 OMIM:615862 DO:DOID:0111125 MESH:D052177 C12.050.351.968.419.403/615862|C12.200.777.419.403/615862|C12.950.419.403/615862 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 NPHP18 Urogenital disease (female)|Urogenital disease (male) NEPHRONOPHTHISIS 19 OMIM:616217 DO:DOID:0111126 MESH:D052177 C12.050.351.968.419.403/616217|C12.200.777.419.403/616217|C12.950.419.403/616217 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 NPHP19 Urogenital disease (female)|Urogenital disease (male) Nephronophthisis 2 MESH:C566582 DO:DOID:0111113|OMIM:602088 MESH:D052177 C12.050.351.968.419.403/C566582|C12.200.777.419.403/C566582|C12.950.419.403/C566582 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 Nephronophthisis, Infantile|NPH2|NPHP2 Urogenital disease (female)|Urogenital disease (male) NEPHRONOPHTHISIS 20 OMIM:617271 DO:DOID:0111127 MESH:D052177 C12.050.351.968.419.403/617271|C12.200.777.419.403/617271|C12.950.419.403/617271 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 NPHP20 Urogenital disease (female)|Urogenital disease (male) Nephronophthisis 3 MESH:C565780 DO:DOID:0111114|OMIM:604387 MESH:D052177 C12.050.351.968.419.403/C565780|C12.200.777.419.403/C565780|C12.950.419.403/C565780 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 Nephronophthisis, Adolescent|NPH3|NPHP3 Urogenital disease (female)|Urogenital disease (male) Nephronophthisis 4 MESH:C564640 DO:DOID:0111115|OMIM:606966 MESH:D052177 C12.050.351.968.419.403/C564640|C12.200.777.419.403/C564640|C12.950.419.403/C564640 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 Nephronophthisis 4, Juvenile|NPHP4 Urogenital disease (female)|Urogenital disease (male) Nephronophthisis 7 MESH:C566930 DO:DOID:0111116|OMIM:611498 MESH:D052177 C12.050.351.968.419.403/C566930|C12.200.777.419.403/C566930|C12.950.419.403/C566930 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 NPHP7 Urogenital disease (female)|Urogenital disease (male) NEPHRONOPHTHISIS 9 OMIM:613824 DO:DOID:0111120 MESH:D052177 C12.050.351.968.419.403/613824|C12.200.777.419.403/613824|C12.950.419.403/613824 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 NPHP9 Urogenital disease (female)|Urogenital disease (male) Nephronophthisis, familial juvenile MESH:C537699 OMIM:256100 MESH:D052177 C12.050.351.968.419.403/C537699|C12.200.777.419.403/C537699|C12.950.419.403/C537699 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403 Juvenile nephronophthisis|Nephronophthisis 1|NEPHRONOPHTHISIS, FAMILIAL JUVENILE|NPH1|NPHP1|Type 1 nephronophthisis Urogenital disease (female)|Urogenital disease (male) NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 OMIM:613159 DO:DOID:0111117 MESH:D007674 C12.050.351.968.419/613159|C12.200.777.419/613159|C12.950.419/613159 C12.050.351.968.419|C12.200.777.419|C12.950.419 NPHPL1 Urogenital disease (female)|Urogenital disease (male) Nephropathy, Chronic Tubulointerstitial MESH:C564016 MESH:D009395 C12.050.351.968.419.570.643/C564016|C12.200.777.419.570.643/C564016|C12.950.419.570.643/C564016 C12.050.351.968.419.570.643|C12.200.777.419.570.643|C12.950.419.570.643 Urogenital disease (female)|Urogenital disease (male) Nephropathy deafness hyperparathyroidism MESH:C536401 MESH:D006319|MESH:D006961|MESH:D007676 C09.218.458.341.887/C536401|C10.597.751.418.341.887/C536401|C12.050.351.968.419.780.750.500/C536401|C12.200.777.419.780.750.500/C536401|C12.950.419.780.750.500/C536401|C19.642.355/C536401|C23.550.291.500.906.500/C536401|C23.888.592.763.393.341.887/C536401 C09.218.458.341.887|C10.597.751.418.341.887|C12.050.351.968.419.780.750.500|C12.200.777.419.780.750.500|C12.950.419.780.750.500|C19.642.355|C23.550.291.500.906.500|C23.888.592.763.393.341.887 Nephropathy, Deafness, And Hyperparathyroidism Ear-nose-throat disease|Endocrine system disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease MESH:C566573 MESH:D002780|MESH:D009395 C06.130.120.135.250/C566573|C06.552.150/C566573|C12.050.351.968.419.570.643/C566573|C12.200.777.419.570.643/C566573|C12.950.419.570.643/C566573 C06.130.120.135.250|C06.552.150|C12.050.351.968.419.570.643|C12.200.777.419.570.643|C12.950.419.570.643 Digestive system disease|Urogenital disease (female)|Urogenital disease (male) Nephropathy, Progressive, with Deafness MESH:C563713 OMIM:609469 MESH:D006319|MESH:D007676|MESH:D009394 C09.218.458.341.887/C563713|C10.597.751.418.341.887/C563713|C12.050.351.875.742/C563713|C12.050.351.968.419.570.620/C563713|C12.050.351.968.419.780.750.500/C563713|C12.200.706.742/C563713|C12.200.777.419.570.620/C563713|C12.200.777.419.780.750.500/C563713|C12.800.742/C563713|C12.950.419.570.620/C563713|C12.950.419.780.750.500/C563713|C16.131.939.742/C563713|C17.300.200.517/C563713|C23.550.291.500.906.500/C563713|C23.888.592.763.393.341.887/C563713 C09.218.458.341.887|C10.597.751.418.341.887|C12.050.351.875.742|C12.050.351.968.419.570.620|C12.050.351.968.419.780.750.500|C12.200.706.742|C12.200.777.419.570.620|C12.200.777.419.780.750.500|C12.800.742|C12.950.419.570.620|C12.950.419.780.750.500|C16.131.939.742|C17.300.200.517|C23.550.291.500.906.500|C23.888.592.763.393.341.887 Alport Focal Segmental Glomerulosclerosis-Like Syndrome|ALPORT/FOCAL SEGMENTAL GLOMERULOSCLEROSIS-LIKE SYNDROME|NEDE Congenital abnormality|Connective tissue disease|Ear-nose-throat disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Nephropathy with Pretibial Epidermolysis Bullosa and Deafness MESH:C563798 OMIM:609057 MESH:D004820|MESH:D006319|MESH:D007674 C09.218.458.341.887/C563798|C10.597.751.418.341.887/C563798|C12.050.351.968.419/C563798|C12.200.777.419/C563798|C12.950.419/C563798|C16.131.831.493/C563798|C16.320.850.275/C563798|C17.800.804.493/C563798|C17.800.827.275/C563798|C17.800.865.410/C563798|C23.888.592.763.393.341.887/C563798 C09.218.458.341.887|C10.597.751.418.341.887|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.831.493|C16.320.850.275|C17.800.804.493|C17.800.827.275|C17.800.865.410|C23.888.592.763.393.341.887 EBS7|EPIDERMOLYSIS BULLOSA SIMPLEX 7, WITH NEPHROPATHY AND DEAFNESS|NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease|Urogenital disease (female)|Urogenital disease (male) Nephrosclerosis MESH:D009400 DO:DOID:11664 Hardening of the KIDNEY due to infiltration by fibrous connective tissue (FIBROSIS), usually caused by renovascular diseases or chronic HYPERTENSION. Nephrosclerosis leads to renal ISCHEMIA. MESH:D007674 C12.050.351.968.419.610|C12.200.777.419.610|C12.950.419.610 C12.050.351.968.419|C12.200.777.419|C12.950.419 Nephroscleroses Urogenital disease (female)|Urogenital disease (male) Nephrosialidosis MESH:C562606 MESH:D009081|MESH:D009401 C05.116.198.371/C562606|C10.228.140.163.100.435.590/C562606|C12.050.351.968.419.630/C562606|C12.200.777.419.630/C562606|C12.950.419.630/C562606|C16.320.565.189.435.590/C562606|C16.320.565.202.670/C562606|C16.320.565.595.554.590/C562606|C18.452.132.100.435.590/C562606|C18.452.648.189.435.590/C562606|C18.452.648.202.670/C562606|C18.452.648.595.554.590/C562606 C05.116.198.371|C10.228.140.163.100.435.590|C12.050.351.968.419.630|C12.200.777.419.630|C12.950.419.630|C16.320.565.189.435.590|C16.320.565.202.670|C16.320.565.595.554.590|C18.452.132.100.435.590|C18.452.648.189.435.590|C18.452.648.202.670|C18.452.648.595.554.590 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Nephrosis MESH:D009401 DO:DOID:2527 Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA. MESH:D007674 C12.050.351.968.419.630|C12.200.777.419.630|C12.950.419.630 C12.050.351.968.419|C12.200.777.419|C12.950.419 Nephroses Urogenital disease (female)|Urogenital disease (male) Nephrosis, congenital MESH:C535761 DO:DOID:2590|OMIM:256300 MESH:D009404 C12.050.351.968.419.630.643/C535761|C12.200.777.419.630.643/C535761|C12.950.419.630.643/C535761 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 CNF|Congenital nephrotic syndrome 1|Congenital nephrotic syndrome, Finnish type|Finnish congenital nephrosis|Nephrosis 1, congenital, Finnish type|NEPHROTIC SYNDROME, CONGENITAL|Nephrotic Syndrome, Early-Onset, Type 3|Nephrotic Syndrome, Idiopathic|Nephrotic Syndrome, Type 1|Nephrotic Syndrome, Type 2|Nephrotic Syndrome, Type 3|NPHS1|Nphs3 Urogenital disease (female)|Urogenital disease (male) Nephrosis deafness urinary tract digital malformation MESH:C536402 MESH:D003638|MESH:D009401|MESH:D014564|MESH:D017880 C05.660.585/C536402|C09.218.458.341.186/C536402|C10.597.751.418.341.186/C536402|C12.050.351.875/C536402|C12.050.351.968.419.630/C536402|C12.200.706/C536402|C12.200.777.419.630/C536402|C12.800/C536402|C12.950.419.630/C536402|C16.131.621.585/C536402|C16.131.939/C536402|C23.888.592.763.393.341.186/C536402 C05.660.585|C09.218.458.341.186|C10.597.751.418.341.186|C12.050.351.875|C12.050.351.968.419.630|C12.200.706|C12.200.777.419.630|C12.800|C12.950.419.630|C16.131.621.585|C16.131.939|C23.888.592.763.393.341.186 Nephrosis with deafness and urinary tract and digital malformations Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Nephrosis, Lipoid MESH:D009402 DO:DOID:10966 A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA. MESH:D009401 C12.050.351.968.419.630.477|C12.200.777.419.630.477|C12.950.419.630.477 C12.050.351.968.419.630|C12.200.777.419.630|C12.950.419.630 Change Diseases, Minimal|Disease, Minimal Change|Diseases, Minimal Change|Glomerulonephritides, Minimal Change|Glomerulonephritis, Minimal Change|Glomerulopathies, Minimal Change|Glomerulopathy, Minimal Change|Idiopathic Minimal Change Nephrotic Syndrome|Lipoid Nephroses|Lipoid Nephrosis|Minimal Change Disease|Minimal Change Diseases|Minimal Change Glomerulonephritides|Minimal Change Glomerulonephritis|Minimal Change Glomerulopathy|Minimal Change Nephropathies|Minimal Change Nephropathy|Minimal Change Nephrotic Syndrome|Nephropathies, Minimal Change|Nephropathy, Minimal Change|Nephroses, Lipoid|Nephrotic Syndrome, Minimal Change Urogenital disease (female)|Urogenital disease (male) Nephrotic Syndrome MESH:D009404 DO:DOID:1184 A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction. MESH:D009401 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 C12.050.351.968.419.630|C12.200.777.419.630|C12.950.419.630 Childhood Idiopathic Nephrotic Syndrome|Frequently Relapsing Nephrotic Syndrome|Multi Drug Resistant Nephrotic Syndrome|Multi-Drug Resistant Nephrotic Syndrome|Nephrotic Syndromes|Nephrotic Syndrome, Steroid-Dependent|Nephrotic Syndrome, Steroid-Resistant|Nephrotic Syndrome, Steroid-Sensitive|Pediatric Idiopathic Nephrotic Syndrome|Steroid Dependent Nephrotic Syndrome|Steroid-Dependent Nephrotic Syndrome|Steroid-Dependent Nephrotic Syndromes|Steroid Resistant Nephrotic Syndrome|Steroid-Resistant Nephrotic Syndrome|Steroid-Resistant Nephrotic Syndromes|Steroid Sensitive Nephrotic Syndrome|Steroid-Sensitive Nephrotic Syndrome|Steroid-Sensitive Nephrotic Syndromes|Syndrome, Nephrotic|Syndrome, Steroid-Sensitive Nephrotic Urogenital disease (female)|Urogenital disease (male) Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities MESH:C563805 MESH:D005124|MESH:D009404 C11.250/C563805|C12.050.351.968.419.630.643/C563805|C12.200.777.419.630.643/C563805|C12.950.419.630.643/C563805|C16.131.384/C563805 C11.250|C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643|C16.131.384 Congenital abnormality|Eye disease|Urogenital disease (female)|Urogenital disease (male) Nephrotic syndrome, idiopathic, steroid-resistant MESH:C536404 OMIM:600995 MESH:D009404 C12.050.351.968.419.630.643/C536404|C12.200.777.419.630.643/C536404|C12.950.419.630.643/C536404 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 Nephrotic syndrome, steroid-resistant, autosomal recessive|NEPHROTIC SYNDROME, TYPE 2|NPHS2|SRN1 Urogenital disease (female)|Urogenital disease (male) Nephrotic syndrome ocular anomalies MESH:C536403 MESH:D005124|MESH:D009404 C11.250/C536403|C12.050.351.968.419.630.643/C536403|C12.200.777.419.630.643/C536403|C12.950.419.630.643/C536403|C16.131.384/C536403 C11.250|C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643|C16.131.384 Familial infantile nephrotic syndrome with ocular abnormalities|Glastre Cochat Bouvier syndrome Congenital abnormality|Eye disease|Urogenital disease (female)|Urogenital disease (male) NEPHROTIC SYNDROME, TYPE 10 OMIM:615861 DO:DOID:0080386 MESH:D009404 C12.050.351.968.419.630.643/615861|C12.200.777.419.630.643/615861|C12.950.419.630.643/615861 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 NPHS10 Urogenital disease (female)|Urogenital disease (male) NEPHROTIC SYNDROME, TYPE 11 OMIM:616730 DO:DOID:0080385 MESH:D009404 C12.050.351.968.419.630.643/616730|C12.200.777.419.630.643/616730|C12.950.419.630.643/616730 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 NPHS11 Urogenital disease (female)|Urogenital disease (male) NEPHROTIC SYNDROME, TYPE 12 OMIM:616892 DO:DOID:0080387 MESH:D009404 C12.050.351.968.419.630.643/616892|C12.200.777.419.630.643/616892|C12.950.419.630.643/616892 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 NPHS12 Urogenital disease (female)|Urogenital disease (male) NEPHROTIC SYNDROME, TYPE 13 OMIM:616893 DO:DOID:0080381 MESH:D009404 C12.050.351.968.419.630.643/616893|C12.200.777.419.630.643/616893|C12.950.419.630.643/616893 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 NPHS13 Urogenital disease (female)|Urogenital disease (male) NEPHROTIC SYNDROME, TYPE 3 OMIM:610725 DO:DOID:0080382 MESH:D009404 C12.050.351.968.419.630.643/610725|C12.200.777.419.630.643/610725|C12.950.419.630.643/610725 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3|NPHS3 Urogenital disease (female)|Urogenital disease (male) NEPHROTIC SYNDROME, TYPE 4 OMIM:256370 DO:DOID:0080383 MESH:D009404 C12.050.351.968.419.630.643/256370|C12.200.777.419.630.643/256370|C12.950.419.630.643/256370 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 NPHS4 Urogenital disease (female)|Urogenital disease (male) NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES OMIM:614199 DO:DOID:0080380 MESH:C563805 C11.250/C563805/614199|C12.050.351.968.419.630.643/C563805/614199|C12.200.777.419.630.643/C563805/614199|C12.950.419.630.643/C563805/614199|C16.131.384/C563805/614199 C11.250/C563805|C12.050.351.968.419.630.643/C563805|C12.200.777.419.630.643/C563805|C12.950.419.630.643/C563805|C16.131.384/C563805 NPHS5 Congenital abnormality|Eye disease|Urogenital disease (female)|Urogenital disease (male) NEPHROTIC SYNDROME, TYPE 6 OMIM:614196 DO:DOID:0080384 MESH:D009404 C12.050.351.968.419.630.643/614196|C12.200.777.419.630.643/614196|C12.950.419.630.643/614196 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 NPHS6 Urogenital disease (female)|Urogenital disease (male) NEPHROTIC SYNDROME, TYPE 7 OMIM:615008 DO:DOID:0080388 MESH:D009404 C12.050.351.968.419.630.643/615008|C12.200.777.419.630.643/615008|C12.950.419.630.643/615008 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 AHUS7, INCLUDED|AHUS, SUSCEPTIBILITY TO, 7, INCLUDED|NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7, INCLUDED|NPHS7 Urogenital disease (female)|Urogenital disease (male) NEPHROTIC SYNDROME, TYPE 8 OMIM:615244 DO:DOID:0080389 MESH:D009404 C12.050.351.968.419.630.643/615244|C12.200.777.419.630.643/615244|C12.950.419.630.643/615244 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 NPHS8 Urogenital disease (female)|Urogenital disease (male) NEPHROTIC SYNDROME, TYPE 9 OMIM:615573 DO:DOID:0080391 MESH:D009404 C12.050.351.968.419.630.643/615573|C12.200.777.419.630.643/615573|C12.950.419.630.643/615573 C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643 NPHS9 Urogenital disease (female)|Urogenital disease (male) Nerve Compression Syndromes MESH:D009408 DO:DOID:573 Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect. MESH:D010523 C10.668.829.550 C10.668.829 Compression Syndrome, Nerve|Compression Syndromes, Nerve|Entrapment, Nerve|Entrapment Neuropathies|Entrapments, Nerve|External Nerve Compression Syndromes|Internal Nerve Compression Syndromes|Nerve Compression Syndrome|Nerve Compression Syndromes, External|Nerve Compression Syndromes, Internal|Nerve Entrapment|Nerve Entrapments|Neuropathies, Entrapment|Neuropathy, Entrapment|Syndrome, Nerve Compression|Syndromes, Nerve Compression Nervous system disease Nerve Degeneration MESH:D009410 Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways. MESH:D010335 C23.550.737 C23.550 Degeneration, Nerve|Degeneration, Neuron|Degenerations, Nerve|Degenerations, Neuron|Nerve Degenerations|Neuron Degeneration|Neuron Degenerations Pathology (process) Nerve Sheath Neoplasms MESH:D018317 DO:DOID:1192|DO:DOID:3193|DO:DOID:4697 Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category. MESH:D009380|MESH:D010524 C04.557.580.600|C10.551.775.500|C10.668.829.725.500 C04.557.580|C10.551.775|C10.668.829.725 Neoplasm, Nerve Sheath|Neoplasms, Nerve Sheath|Nerve Sheath Neoplasm|Nerve Sheath Tumor|Nerve Sheath Tumors|Nerve Sheath Tumors, Peripheral|Perineurioma|Perineuriomas|Peripheral Nerve Sheath Tumor|Peripheral Nerve Sheath Tumors|Sheath Tumor, Nerve|Sheath Tumors, Nerve|Tumor, Nerve Sheath|Tumors, Nerve Sheath|Tumors of the Nerve Sheath Cancer|Nervous system disease Nervous System Autoimmune Disease, Experimental MESH:D020721 Experimental animal models for human AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM. They include GUILLAIN-BARRE SYNDROME (see NEURITIS, AUTOIMMUNE, EXPERIMENTAL); MYASTHENIA GRAVIS (see MYASTHENIA GRAVIS, AUTOIMMUNE, EXPERIMENTAL); and MULTIPLE SCLEROSIS (see ENCEPHALOMYELITIS, AUTOIMMUNE, EXPERIMENTAL). MESH:D020274 C10.114.703|C20.111.258.625 C10.114|C20.111.258 Autoimmune Disease Models, Nervous System|Autoimmune Experimental Myositis|Autoimmune Myositis, Experimental|Disease Models, Autoimmune, Nervous System|Experimental Autoimmune Myositis|Experimental Myositis, Autoimmune|Myositis, Autoimmune Experimental|Myositis, Experimental Autoimmune|Nervous System Autoimmune Disease Models Immune system disease|Nervous system disease Nervous System Diseases MESH:D009422 DO:DOID:863 Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle. MESH:C C10 C Disease, Nervous System|Diseases, Nervous System|Disorder, Nervous System|Disorder, Neurologic|Disorder, Neurological|Disorders, Nervous System|Disorders, Neurologic|Disorders, Neurological|Nervous System Disease|Nervous System Disorder|Nervous System Disorders|Neurological Disorder|Neurological Disorders|Neurologic Disorder|Neurologic Disorders Nervous system disease Nervous System Malformations MESH:D009421 Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis. MESH:D000013|MESH:D009422 C10.500|C16.131.666 C10|C16.131 Abnormalities, Congenital, Nervous System|Abnormalities, Nervous System|Abnormality, Nervous System|Anomalies, Nervous System|Anomaly, Nervous System|Congenital Abnormalities, Nervous System|Congenital Anomalies, Nervous System|Congenital Malformations, Nervous System|Cranioschises|Cranioschisis|Malformation, Nervous System|Malformations, Nervous System|Malformations, Nervous System, Congenital|Nervous System Abnormalities|Nervous System Abnormality|Nervous System Anomalies|Nervous System Anomaly|Nervous System Congenital Abnormalities|Nervous System Congenital Malformations|Nervous System Malformation|Nervous System Malformations, Congenital Congenital abnormality|Nervous system disease Nervous System Neoplasms MESH:D009423 Benign and malignant neoplastic processes arising from or involving components of the central, peripheral, and autonomic nervous systems, cranial nerves, and meninges. Included in this category are primary and metastatic nervous system neoplasms. MESH:D009371|MESH:D009422 C04.588.614|C10.551 C04.588|C10 Neoplasm, Nervous System|Neoplasms, Nervous System|Nervous System Neoplasm|Nervous System Tumor|Nervous System Tumors|Tumor, Nervous System|Tumors, Nervous System|Tumors of the Nervous System Cancer|Nervous system disease NESCAV SYNDROME OMIM:614255 DO:DOID:0070039 MESH:D008607 C10.597.606.360/614255|C23.888.592.604.646/614255|F03.625.539/614255 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, FORMERLY|MRD9, FORMERLY|NESCAVS|NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT Mental disorder|Nervous system disease|Signs and symptoms Nesidioblastosis MESH:D046768 DO:DOID:13317 An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the PANCREAS and CONGENITAL HYPERINSULINISM. It is due to focal hyperplasia of pancreatic ISLET CELLS budding off from the ductal structures and forming new islets of Langerhans. Mutations in the islet cells involve the potassium channel gene KCNJ11 or the ATP-binding cassette transporter gene ABCC8, both on CHROMOSOME 11. MESH:D044903 C06.689.150.500|C16.614.200.500|C18.452.394.968.250.500|C18.452.394.984.200.500 C06.689.150|C16.614.200|C18.452.394.968.250|C18.452.394.984.200 Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis|Nesidioblastoses|Nesidioblastoses, Pancreatic|Nesidioblastosis of Pancreas|Nesidioblastosis, Pancreatic|Pancreas Nesidioblastoses|Pancreas Nesidioblastosis|Pancreatic Nesidioblastoses|Pancreatic Nesidioblastosis Digestive system disease|Infant-newborn disease|Metabolic disease NESTOR-GUILLERMO PROGERIA SYNDROME OMIM:614008 DO:DOID:0081334 MESH:C567661|MESH:D010014 C05.116.264.579/614008|C16.320.488.875/C567661/614008|C16.320.565.753/C567661/614008|C18.452.648.753/C567661/614008 C05.116.264.579|C16.320.488.875/C567661|C16.320.565.753/C567661|C18.452.648.753/C567661 NGPS|PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS|PSCOO Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Netherton Syndrome MESH:D056770 OMIM:256500 Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene. MESH:D000015|MESH:D012873|MESH:D016113 C16.131.077.619|C16.131.831.512.400.705|C16.320.850.673|C16.614.492.400.705|C17.800.428.333.250.705|C17.800.804.512.400.705|C17.800.827.655 C16.131.077|C16.131.831.512.400|C16.320.850|C16.614.492.400|C17.800.428.333.250|C17.800.804.512.400|C17.800.827 COMEL-NETHERTON SYNDROME|ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE|NETH|Netherton Disease|NS Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Neuhauser Daly Magnelli syndrome MESH:C536406 MESH:D004381|MESH:D009759 C06.405.469.275.800.348/C536406|C06.405.748.586.349/C536406|C10.292.562.675/C536406|C11.590.400/C536406 C06.405.469.275.800.348|C06.405.748.586.349|C10.292.562.675|C11.590.400 Essential tremors, nystagmus and duodenal ulceration|Tremor, Nystagmus, and Duodenal Ulcer|Tremor nystagmus duodenal ulcer|Tremors, nystagmus and duodenal ulcers Digestive system disease|Eye disease|Nervous system disease Neuhauser Eichner Opitz syndrome MESH:C536407 MESH:D001480|MESH:D002524 C10.228.140.079/C536407|C10.228.140.252.190/C536407|C10.597.350.090.500/C536407|C23.888.592.350.090.200/C536407 C10.228.140.079|C10.228.140.252.190|C10.597.350.090.500|C23.888.592.350.090.200 Encephalopathy, recurrent, of childhood Nervous system disease|Signs and symptoms Neuhauser syndrome MESH:C536143 MESH:D002547|MESH:D003316|MESH:D008607|MESH:D058627 C05.660.207.536/C536143|C10.228.140.140.254/C536143|C10.500.507.400.249/C536143|C10.597.606.360/C536143|C11.204/C536143|C16.131.621.207.532/C536143|C16.131.666.507.400.249/C536143|C23.888.592.604.646/C536143|F03.625.539/C536143 C05.660.207.536|C10.228.140.140.254|C10.500.507.400.249|C10.597.606.360|C11.204|C16.131.621.207.532|C16.131.666.507.400.249|C23.888.592.604.646|F03.625.539 Cerebral palsy-hypotonic seizures-megalcornea syndrome|Megalocornea-macrocephaly-mental and motor retardation (MMMM) syndrome|Megalocornea mental retardation syndrome|Megalocornea-Mental Retardation Syndrome|MMR syndrome|Seizures-hypotonic cerebral palsy-megalocornea-mental retardation syndrome Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Neu Laxova syndrome MESH:C536405 OMIM:256520|OMIM:616038 MESH:D000015|MESH:D001927|MESH:D005317|MESH:D007057|MESH:D008831|MESH:D017880 C05.660.207.620/C536405|C05.660.585/C536405|C10.228.140/C536405|C10.500.507.400.500/C536405|C12.050.703.277.370/C536405|C16.131.077/C536405|C16.131.621.207.620/C536405|C16.131.621.585/C536405|C16.131.666.507.400.500/C536405|C16.131.831.512/C536405|C16.300.390/C536405|C16.614.492/C536405|C17.800.428.333/C536405|C17.800.804.512/C536405|C23.550.393.450/C536405 C05.660.207.620|C05.660.585|C10.228.140|C10.500.507.400.500|C12.050.703.277.370|C16.131.077|C16.131.621.207.620|C16.131.621.585|C16.131.666.507.400.500|C16.131.831.512|C16.300.390|C16.614.492|C17.800.428.333|C17.800.804.512|C23.550.393.450 Neu-Laxova Syndrome|NEU-LAXOVA SYNDROME 1|NEU-LAXOVA SYNDROME 2|NLS|NLS1|NLS2 Congenital abnormality|Fetal disease|Infant-newborn disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Pregnancy complication|Skin disease Neural crest tumor MESH:C536408 MESH:D000310 C04.588.322.078/C536408|C19.053.347/C536408|C19.344.078/C536408 C04.588.322.078|C19.053.347|C19.344.078 Neural crest-derived tumors Cancer|Endocrine system disease Neuralgia MESH:D009437 Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve. MESH:D010146|MESH:D010523 C10.668.829.600|C23.888.592.612.664 C10.668.829|C23.888.592.612 Atypical Neuralgia|Atypical Neuralgias|Iliohypogastric Nerve Neuralgia|Iliohypogastric Nerve Neuralgias|Ilioinguinal Neuralgia|Ilioinguinal Neuralgias|Nerve Neuralgia, Iliohypogastric|Nerve Neuralgias, Iliohypogastric|Nerve Pain|Nerve Pain, Paroxysmal|Nerve Pains|Nerve Pains, Paroxysmal|Neuralgia, Atypical|Neuralgia, Iliohypogastric Nerve|Neuralgia, Ilioinguinal|Neuralgia, Perineal|Neuralgias|Neuralgias, Atypical|Neuralgias, Iliohypogastric Nerve|Neuralgias, Ilioinguinal|Neuralgias, Perineal|Neuralgias, Stump|Neuralgias, Supraorbital|Neuralgia, Stump|Neuralgia, Supraorbital|Neuralgias, Vidian|Neuralgia, Vidian|Neurodynia|Neurodynias|Neuropathic Pain|Neuropathic Pains|Pain, Nerve|Pain, Neuropathic|Pain, Paroxysmal Nerve|Pains, Nerve|Pains, Neuropathic|Pains, Paroxysmal Nerve|Paroxysmal Nerve Pain|Paroxysmal Nerve Pains|Perineal Neuralgia|Perineal Neuralgias|Stump Neuralgia|Stump Neuralgias|Supraorbital Neuralgia|Supraorbital Neuralgias|Vidian Neuralgia|Vidian Neuralgias Nervous system disease|Signs and symptoms Neuralgia, Postherpetic MESH:D051474 Pain in nerves, frequently involving facial SKIN, resulting from the activation the latent varicella-zoster virus (HERPESVIRUS 3, HUMAN). The two forms of the condition preceding the pain are HERPES ZOSTER OTICUS; and HERPES ZOSTER OPHTHALMICUS. Following the healing of the rashes and blisters, the pain sometimes persists. MESH:D009437 C10.668.829.600.550|C23.888.592.612.664.550 C10.668.829.600|C23.888.592.612.664 Postherpetic Neuralgia Nervous system disease|Signs and symptoms Neural tube defect, folate-sensitive MESH:C536409 OMIM:601634 MESH:D000757 C10.500.680.196/C536409|C16.131.085.197/C536409|C16.131.666.680.196/C536409 C10.500.680.196|C16.131.085.197|C16.131.666.680.196 Neural Tube Defects, Folate-Sensitive|NTD, FOLATE-SENSITIVE SPINA BIFIDA, FOLATE-SENSITIVE, INCLUDED|NTDFS Congenital abnormality|Nervous system disease Neural Tube Defects MESH:D009436 OMIM:182940 Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41) MESH:D009421 C10.500.680|C16.131.666.680 C10.500|C16.131.666 Acrania|Acranias|Craniorachischises|Craniorachischisis|Cyst, Neurenteric|Cyst, Neuroenteric|Cysts, Neurenteric|Cysts, Neuroenteric|Defect, Neural Tube|Defects, Neural Tube|Developmental Defects, Neural Tube|Developmental Neural Tube Defects|Diastematomyelia|Diastematomyelias|Dysraphism, Occult Spinal|Dysraphisms, Occult Spinal|Exencephalies|Exencephaly|Iniencephalies|Iniencephaly|Myelodysplasia, Spinal Cord|Myelodysplasias, Spinal Cord|Neural Tube Defect|NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO|Neural Tube Developmental Defects|Neurenteric Cyst|Neurenteric Cysts|Neuroenteric Cyst|Neuroenteric Cysts|NTD|Occult Spinal Dysraphism|Occult Spinal Dysraphisms|Occult Spinal Dysraphism Sequence|SPINA BIFIDA, INCLUDED|Spinal Cord Myelodysplasia|Spinal Cord Myelodysplasias|Spinal Dysraphism, Occult|Spinal Dysraphisms, Occult|Tethered Cord Syndrome|Tethered Cord Syndromes|Tethered Spinal Cord Syndrome Congenital abnormality|Nervous system disease Neural tube defects X-linked MESH:C536410 MESH:D009436|MESH:D040181 C10.500.680/C536410|C16.131.666.680/C536410|C16.320.322/C536410 C10.500.680|C16.131.666.680|C16.320.322 Anencephaly-Spina Bifida|Neural Tube Defects, X-Linked Congenital abnormality|Genetic disease (inborn)|Nervous system disease Neuraminidase 1 deficiency MESH:C537366 OMIM:256550 MESH:D009081 C05.116.198.371/C537366|C10.228.140.163.100.435.590/C537366|C16.320.565.189.435.590/C537366|C16.320.565.202.670/C537366|C16.320.565.595.554.590/C537366|C18.452.132.100.435.590/C537366|C18.452.648.189.435.590/C537366|C18.452.648.202.670/C537366|C18.452.648.595.554.590/C537366 C05.116.198.371|C10.228.140.163.100.435.590|C16.320.565.189.435.590|C16.320.565.202.670|C16.320.565.595.554.590|C18.452.132.100.435.590|C18.452.648.189.435.590|C18.452.648.202.670|C18.452.648.595.554.590 CHERRY RED SPOT--MYOCLONUS SYNDROME, INCLUDED|GLYCOPROTEIN NEURAMINIDASE DEFICIENCY|LIPOMUCOPOLYSACCHARIDOSIS|ML I|MUCOLIPIDOSIS I|MYOCLONUS--CHERRY RED SPOT SYNDROME, INCLUDED|Neu1 Deficiency|NEU1 DEFICIENCY SIALIDOSIS, TYPE I, INCLUDED|Neu Deficiency|Neug Deficiency|NEURAMINIDASE 1 DEFICIENCY|Neuraminidase deficiency|Sialidase deficiency|Sialidoses, type 2|Sialidosis, Type I|Sialidosis, Type II Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Neuraminidase deficiency with beta-galactosidase deficiency MESH:C536411 OMIM:256540 MESH:D016464 C16.320.565.595/C536411|C18.452.648.595/C536411 C16.320.565.595|C18.452.648.595 Cathepsin A Deficiency|Cathepsin A, deficiency of|Deficiency of Cathepsin A|Galactosialidosis|Goldberg syndrome|GSL|Lysosomal Protective Protein Deficiency|Lysosomal protective protein, deficiency of|NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION|NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY|NGBE|PPCA DEFICIENCY|Protective protein-Cathepsin A deficiency|PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY Genetic disease (inborn)|Metabolic disease Neurasthenia MESH:D009440 A mental disorder characterized by chronic fatigue and concomitant physiologic symptoms. MESH:D013001 F03.875.600 F03.875 Bodily Distress Disorder|Bodily Distress Disorders|Disorder, Bodily Distress|Distress Disorder, Bodily|Neurasthenic Neuroses|Neuroses, Neurasthenic Mental disorder Neurilemmoma MESH:D009442 DO:DOID:3192 A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5) MESH:D009463|MESH:D018358 C04.557.465.625.650.595|C04.557.580.600.610.595|C04.557.580.625.650.595 C04.557.465.625.650|C04.557.580.600.610|C04.557.580.625.650 Neurilemmomas|Neurilemoma|Neurilemomas|Neurinoma|Neurinomas|Plexiform Schwannomatoses|Plexiform Schwannomatosis|Schwannoma|Schwannomas|Schwannomatosis, Plexiform Cancer Neuritis MESH:D009443 DO:DOID:1803|DO:DOID:683 A general term indicating inflammation of a peripheral or cranial nerve. Clinical manifestation may include PAIN; PARESTHESIAS; PARESIS; or HYPESTHESIA. MESH:D010523 C10.668.829.650 C10.668.829 Motor Neuritides|Motor Neuritis|Neuritides|Neuritides, Motor|Neuritides, Peripheral|Neuritides, Sensory|Neuritis, Motor|Neuritis, Peripheral|Neuritis, Sensory|Peripheral Neuritides|Peripheral Neuritis|Polyneuritides|Polyneuritis|Sensory Neuritides|Sensory Neuritis Nervous system disease Neuritis, Autoimmune, Experimental MESH:D009444 An experimental animal model for the demyelinating disease of GUILLAINE-BARRE SYNDROME. In the most frequently used protocol, animals are injected with a peripheral nerve tissue protein homogenate. After approximately 2 weeks the animals develop a neuropathy secondary to a T cell-mediated autoimmune response directed towards the MYELIN P2 PROTEIN in peripheral nerves. Pathologic findings include a perivascular accumulation of macrophages and T lymphocytes in the peripheral nervous system, similar to that seen in the Guillaine-Barre syndrome. (From Adams et al., Principles of Neurology, 6th ed, p1314; J Neuroimmunol 1998 Apr 1;84(1):40-52) MESH:D009443|MESH:D020721 C10.114.703.700|C10.668.829.650.500|C20.111.258.625.700 C10.114.703|C10.668.829.650|C20.111.258.625 Allergic Neuritis, Experimental|Autoimmune Neuritis, Experimental|Autoimmune Neuropathies, Experimental|Autoimmune Neuropathy, Experimental|EAN (Experimental Allergic Neuritis)|EAN (Experimental Autoimmune Neuritis)|Experimental Allergic Neuritis|Experimental Autoimmune Neuritis|Experimental Autoimmune Neuropathies|Experimental Autoimmune Neuropathy|Neuritis, Experimental Allergic|Neuritis, Experimental Autoimmune|Neuropathies, Experimental Autoimmune|Neuropathy, Experimental Autoimmune Immune system disease|Nervous system disease Neuroacanthocytosis MESH:D054546 DO:DOID:0050765|DO:DOID:0050766|OMIM:200150 An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21. MESH:D002819|MESH:D020271 C10.228.662.262.249.937|C16.320.400.550 C10.228.662.262.249|C16.320.400 Acanthocytoses, Chorea|Acanthocytosis, Chorea|Acanthocytosis with Neurologic Disorder|CHAC|Chorea Acanthocytoses|Chorea-Acanthocytoses|Chorea Acanthocytosis|Chorea-Acanthocytosis|Chorea Acanthocytosis Syndrome|Chorea Acanthocytosis Syndromes|Choreoacanthocytoses|Choreoacanthocytosis|Levine Critchley Syndrome|Levine-Critchley Syndrome|LEVINE-CRITCHLEY SYNDROME, FORMERLY|NEUROACANTHOCYTOSIS, FORMERLY Genetic disease (inborn)|Nervous system disease Neuroacanthocytosis, Mcleod Type MESH:C564038 DO:DOID:0112107|OMIM:300842 MESH:D054546 C10.228.662.262.249.937/C564038|C16.320.400.550/C564038 C10.228.662.262.249.937|C16.320.400.550 MCLDS|MCLEOD PHENOTYPE|McLeod Syndrome|NEUROACANTHOCYTOSIS, MCLEOD TYPE MCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE, INCLUDED Genetic disease (inborn)|Nervous system disease Neuroaspergillosis MESH:D020953 DO:DOID:13565 Infections of the nervous system caused by fungi of the genus ASPERGILLUS, most commonly ASPERGILLUS FUMIGATUS. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing MENINGITIS, FUNGAL; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3) MESH:D000072742|MESH:D001228|MESH:D020314 C01.150.703.080.537|C01.150.703.492.750|C01.207.198.750|C10.228.228.198.750 C01.150.703.080|C01.150.703.492|C01.207.198|C10.228.228.198 Aspergillosis, Nervous System Invasive|Nervous System Invasive Aspergillosis|Neuroaspergilloses Bacterial infection or mycosis|Nervous system disease Neuroaxonal Dystrophies MESH:D019150 DO:DOID:2367 A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) MESH:D001927 C10.228.140.744 C10.228.140 Adult Neuroaxonal Dystrophy|Disease, Seitelberger|Disease, Seitelberger's|Dystrophy, Adult Neuroaxonal|Dystrophy, Infantile Neuroaxonal|Dystrophy, Juvenile Neuroaxonal|Dystrophy, Neuroaxonal|Infantile Neuroaxonal Dystrophy|Juvenile Neuroaxonal Dystrophy|Late Infantile Neuroaxonal Dystrophy|NBIA2A|NBIA, PLA2G6 Related|NBIA, PLA2G6-Related|Neuroaxonal Dystrophy|Neuroaxonal Dystrophy, Adult|Neuroaxonal Dystrophy, Infantile|Neuroaxonal Dystrophy, Juvenile|Neuroaxonal Dystrophy, Late Infantile|Neurodegeneration, PLA2G6 Associated|Neurodegeneration, PLA2G6-Associated|Neurodegeneration With Brain Iron Accumulation 2A|PLA2G6-Associated Neurodegeneration|PLA2G6-Related NBIA|Seitelberger Disease|Seitelberger's Disease|Seitelbergers Disease Nervous system disease Neuroaxonal dystrophy renal tubular acidosis MESH:C537386 MESH:D000141|MESH:D019150 C10.228.140.744/C537386|C12.050.351.968.419.815.093/C537386|C12.200.777.419.815.093/C537386|C12.950.419.815.093/C537386|C16.320.831.093/C537386|C18.452.076.176.210/C537386 C10.228.140.744|C12.050.351.968.419.815.093|C12.200.777.419.815.093|C12.950.419.815.093|C16.320.831.093|C18.452.076.176.210 Maccario Mena Weir syndrome Genetic disease (inborn)|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Neurobehavioral Manifestations MESH:D019954 Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. MESH:D009461 C10.597.606|C23.888.592.604 C10.597|C23.888.592 Cognitive Manifestation|Cognitive Manifestations|Cognitive Symptom|Cognitive Symptoms|Manifestation, Cognitive|Manifestation, Neurobehavioral|Manifestations, Cognitive|Manifestations, Neurobehavioral|Neurobehavioral Manifestation|Neurobehavioral Signs and Symptoms|Signs and Symptoms, Neurobehavioral|Symptom, Cognitive|Symptoms, Cognitive Nervous system disease|Signs and symptoms Neuroblastoma MESH:D009447 DO:DOID:769|OMIM:256700|OMIM:613013|OMIM:613014|OMIM:613015|OMIM:613016|OMIM:613017 A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51) MESH:D018241 C04.557.465.625.600.590.650.550|C04.557.470.670.590.650.550|C04.557.580.625.600.590.650.550 C04.557.465.625.600.590.650|C04.557.470.670.590.650|C04.557.580.625.600.590.650 NBLST1|NBLST2|NBLST3|NBLST4|NBLST5|NBLST6|Neuroblastomas|NEUROBLASTOMA, SUSCEPTIBILITY TO, 1|NEUROBLASTOMA, SUSCEPTIBILITY TO, 2|NEUROBLASTOMA, SUSCEPTIBILITY TO, 3|NEUROBLASTOMA, SUSCEPTIBILITY TO, 4|NEUROBLASTOMA, SUSCEPTIBILITY TO, 5|NEUROBLASTOMA, SUSCEPTIBILITY TO, 6|NEUROBLASTOMA, SUSCEPTIBILITY TO, INCLUDED|NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE, INCLUDED Cancer Neurocirculatory Asthenia MESH:D009449 DO:DOID:11569 A clinical syndrome characterized by palpitation, SHORTNESS OF BREATH, labored breathing, subjective complaints of effort and discomfort, all following slight PHYSICAL EXERTION. Other symptoms may be DIZZINESS, tremulousness, SWEATING, and INSOMNIA. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder. MESH:D001008 F03.080.500 F03.080 Asthenia, Neurocirculatory|Cardiac Neuroses|Cardiac Neurosis|Cardiac Phobia|Effort Syndrome|Heart Syndrome, Hyperkinetic|Hyperkinetic Heart Syndrome|Neurocirculatory Asthenias|Neurosis, Cardiac|Phobia, Cardiac|Syndrome, Effort|Syndrome, Hyperkinetic Heart Mental disorder Neurocognitive Disorders MESH:D019965 DO:DOID:1561 Diagnoses of DEMENTIA and AMNESTIC DISORDER are subsumed here. (DSM-5) MESH:D001523 F03.615 F03 Clerambault Syndrome|Delirium, Dementia, Amnestic, Cognitive Disorders|Disorder, Mild Neurocognitive|Disorder, Neurocognitive|Disorders, Mild Neurocognitive|Disorders, Neurocognitive|Disorders, Organic Mental|Kandinsky Syndrome|Mental Disorder, Organic|Mental Disorders, Organic|Mild Neurocognitive Disorder|Mild Neurocognitive Disorders|Neurocognitive Disorder|Neurocognitive Disorder, Mild|Neurocognitive Disorders, Mild|Nonpsychotic Organic Brain Syndrome|Organic Brain Syndrome, Nonpsychotic|Organic Mental Disorder|Organic Mental Disorders|Organic Mental Disorders, Psychotic|Psychoses, Traumatic|Traumatic Psychoses Mental disorder Neurocutaneous melanosis MESH:C537387 OMIM:249400 MESH:D008548|MESH:D020752 C10.562/C537387|C16.131.077.350.712/C537387|C16.131.831.350.712/C537387|C16.320.850.250.712/C537387|C17.800.621.430.530/C537387|C17.800.804.350.712/C537387|C17.800.827.250.712/C537387 C10.562|C16.131.077.350.712|C16.131.831.350.712|C16.320.850.250.712|C17.800.621.430.530|C17.800.804.350.712|C17.800.827.250.712 Melanosis, neurocutaneous|NCMS|Neurocutaneous melanosis syndrome|NEUROMELANOSIS Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease Neurocutaneous Syndromes MESH:D020752 A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. MESH:D004476|MESH:D009422 C10.562|C16.131.077.350.712|C16.131.831.350.712|C16.320.850.250.712|C17.800.804.350.712|C17.800.827.250.712 C10|C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250 Neurocutaneous Disorder|Neurocutaneous Disorders|Neurocutaneous Syndrome|Neuroectodermal Dysplasia Syndrome|Neuroectodermal Dysplasia Syndromes|Phacomatoses|Phacomatosis|Phakomatoses|Phakomatosis|Syndrome, Neurocutaneous|Syndrome, Neuroectodermal Dysplasia|Syndromes, Neurocutaneous|Syndromes, Neuroectodermal Dysplasia Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease Neurocysticercosis MESH:D020019 Infection of the brain, spinal cord, or perimeningeal structures with the larval forms of the genus TAENIA (primarily T. solium in humans). Lesions formed by the organism are referred to as cysticerci. The infection may be subacute or chronic, and the severity of symptoms depends on the severity of the host immune response and the location and number of lesions. SEIZURES represent the most common clinical manifestation although focal neurologic deficits may occur. (From Joynt, Clinical Neurology, 1998, Ch27, pp46-50) MESH:D003551|MESH:D020809 C01.207.205.250.550|C01.610.105.250.550|C01.610.335.190.902.185.550|C10.228.228.205.250.550 C01.207.205.250|C01.610.105.250|C01.610.335.190.902.185|C10.228.228.205.250 Brain Cysticercosis|Central Nervous System Cysticercosis|Cerebral Coenuroses|Cerebral Coenurosis|Cerebral Cysticercoses|Cerebral Cysticercosis|CNS Cysticercoses|CNS Cysticercosis|Coenurosis, Cerebral|Cysticercosis, Brain|Cysticercosis, Central Nervous System|Cysticercosis, Cerebral|Cysticercosis, CNS|Neurocoenuroses|Neurocoenurosis|Neurocysticercoses Nervous system disease|Parasitic disease Neurocytoma MESH:D018306 DO:DOID:14174 A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9) MESH:D001932|MESH:D018302 C04.557.465.625.600.580|C04.557.470.670.580|C04.557.580.625.600.580|C04.588.614.250.195.648|C10.228.140.211.692|C10.551.240.250.550 C04.557.465.625.600|C04.557.470.670|C04.557.580.625.600|C04.588.614.250.195|C10.228.140.211|C10.551.240.250 Central Neurocytoma|Central Neurocytomas|Neurocytoma, Central|Neurocytomas|Neurocytomas, Central Cancer|Nervous system disease Neurodegeneration Due To Cerebral Folate Transport Deficiency MESH:C567791 OMIM:613068 MESH:D019150 C10.228.140.744/C567791 C10.228.140.744 NCFTD Nervous system disease NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET OMIM:617145 DO:DOID:0081364 MESH:D001259|MESH:D001264|MESH:D003072|MESH:D004401|MESH:D004421|MESH:D015835|MESH:D019636 C10.228.758/617145|C10.292.562/617145|C10.574/617145|C10.597.350.090/617145|C10.597.350.110/617145|C10.597.350.300/617145|C10.597.606.150.500.800.150.200/617145|C11.590/617145|C23.888.592.350.090/617145|C23.888.592.350.110/617145|C23.888.592.350.300/617145|C23.888.592.604.150.500.800.150.200/617145|F03.615.250/617145 C10.228.758|C10.292.562|C10.574|C10.597.350.090|C10.597.350.110|C10.597.350.300|C10.597.606.150.500.800.150.200|C11.590|C23.888.592.350.090|C23.888.592.350.110|C23.888.592.350.300|C23.888.592.604.150.500.800.150.200|F03.615.250 NADGP Eye disease|Mental disorder|Nervous system disease|Signs and symptoms NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A OMIM:256600 DO:DOID:0110735 MESH:C538421|MESH:D019636 C10.228.140.744/C538421/256600|C10.574/256600|C18.452.565/C538421/256600 C10.228.140.744/C538421|C10.574|C18.452.565/C538421 INAD|INAD1|NBIA2A|NEUROAXONAL DYSTROPHY, INFANTILE|NEURODEGENERATION, PLA2G6-ASSOCIATED|PLAN|SEITELBERGER DISEASE Metabolic disease|Nervous system disease NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 OMIM:614298 DO:DOID:0110738 MESH:C538421|MESH:D019636 C10.228.140.744/C538421/614298|C10.574/614298|C18.452.565/C538421/614298 C10.228.140.744/C538421|C10.574|C18.452.565/C538421 MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION|MPAN|NBIA4 Metabolic disease|Nervous system disease NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 OMIM:300894 DO:DOID:0110739 MESH:C538421|MESH:D019636 C10.228.140.744/C538421/300894|C10.574/300894|C18.452.565/C538421/300894 C10.228.140.744/C538421|C10.574|C18.452.565/C538421 BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION|BPAN|NBIA5|SENDA|STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD Metabolic disease|Nervous system disease NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 OMIM:615643 DO:DOID:0110740 MESH:C538421|MESH:D019636 C10.228.140.744/C538421/615643|C10.574/615643|C18.452.565/C538421/615643 C10.228.140.744/C538421|C10.574|C18.452.565/C538421 NBIA6 Metabolic disease|Nervous system disease Neurodegeneration with brain iron accumulation (NBIA) MESH:C538421 DO:DOID:0110734 MESH:D019150|MESH:D019189 C10.228.140.744/C538421|C18.452.565/C538421 C10.228.140.744|C18.452.565 Metabolic disease|Nervous system disease Neurodegenerative Diseases MESH:D019636 DO:DOID:1289 Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. MESH:D009422 C10.574 C10 Degenerative Condition, Neurologic|Degenerative Conditions, Neurologic|Degenerative Diseases, Central Nervous System|Degenerative Diseases, Nervous System|Degenerative Diseases, Neurologic|Degenerative Diseases, Spinal Cord|Degenerative Neurologic Disease|Degenerative Neurologic Diseases|Degenerative Neurologic Disorder|Degenerative Neurologic Disorders|Nervous System Degenerative Diseases|Neurodegenerative Disease|Neurodegenerative Disorder|Neurodegenerative Disorders|Neurologic Degenerative Condition|Neurologic Degenerative Conditions|Neurologic Degenerative Disease|Neurologic Degenerative Diseases|Neurologic Disease, Degenerative|Neurologic Diseases, Degenerative|Neurologic Disorder, Degenerative|Neurologic Disorders, Degenerative Nervous system disease Neurodermatitis MESH:D009450 DO:DOID:3309 An extremely variable eczematous skin disease that is presumed to be a response to prolonged vigorous scratching, rubbing, or pinching to relieve intense pruritus. It varies in intensity, severity, course, and morphologic expression in different individuals. Neurodermatitis is believed by some to be psychogenic. The circumscribed or localized form is often referred to as lichen simplex chronicus. MESH:D003872|MESH:D017443 C17.800.174.660|C17.800.815.660 C17.800.174|C17.800.815 Circumscribed Neurodermatitides|Circumscribed Neurodermatitis|Lichen Simplex Chronicus|Localized Neurodermatitides|Localized Neurodermatitis|Neurodermatitides|Neurodermatitides, Circumscribed|Neurodermatitides, Localized|Neurodermatitis, Circumscribed|Neurodermatitis, Localized Skin disease Neurodevelopmental Disorders MESH:D065886 These are a group of conditions with onset in the developmental period. The disorders typically manifest early in development, often before the child enters grade school, and are characterized by developmental deficits that produce impairments of personal, social, academic, or occupational functioning. (From DSM-5). MESH:D001523 F03.625 F03 Child Mental Disorder|Child Mental Disorders|Disorder, Child Mental|Disorder, Neurodevelopmental|Mental Disorder, Child|Mental Disorders, Child|Mental Disorders Diagnosed in Childhood|Mental Disorders Usually Diagnosed in Infancy, Childhood or Adolescence|Neurodevelopmental Disorder|Neurodevelopmental Disorders Usually Diagnosed in Infancy, Childhood or Adolescence Mental disorder NEURODEVELOPMENTAL DISORDER WITH BRAIN ABNORMALITIES, POOR GROWTH, AND DYSMORPHIC FACIES OMIM:615286 DO:DOID:0081099 MESH:D008607|MESH:D019066 C10.597.606.360/615286|C23.550.291.812/615286|C23.888.592.604.646/615286|F03.625.539/615286 C10.597.606.360|C23.550.291.812|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, FORMERLY|MRT36, FORMERLY|NEDBGF Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES OMIM:615802 MESH:C537277|MESH:D008607|MESH:D065886 C10.597.606.360/615802|C10.597.742/C537277/615802|C23.888.592.604.646/615802|C23.888.592.742/C537277/615802|F03.625.539/615802|F03.625/615802 C10.597.606.360|C10.597.742/C537277|C23.888.592.604.646|C23.888.592.742/C537277|F03.625|F03.625.539 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9|GPIBD9|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42|MRT42|NEDDSBA Mental disorder|Nervous system disease|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION OMIM:617393 MESH:D001068|MESH:D002386|MESH:D004827|MESH:D009421|MESH:D065886 C10.228.140.490/617393|C10.500/617393|C11.510.245/617393|C16.131.666/617393|F03.400/617393|F03.625/617393 C10.228.140.490|C10.500|C11.510.245|C16.131.666|F03.400|F03.625 NECFM Congenital abnormality|Eye disease|Mental disorder|Nervous system disease NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY OMIM:615599 DO:DOID:0081205 MESH:D001068|MESH:D005532|MESH:D008607|MESH:D061085 C05.330.495/615599|C05.660.585.512.380/615599|C10.500.034/615599|C10.597.606.360/615599|C16.131.621.585.512.500/615599|C16.131.666.034/615599|C23.300.008/615599|C23.888.592.604.646/615599|F03.400/615599|F03.625.539/615599 C05.330.495|C05.660.585.512.380|C10.500.034|C10.597.606.360|C16.131.621.585.512.500|C16.131.666.034|C23.300.008|C23.888.592.604.646|F03.400|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 40|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40|MRT40|NEDFCF Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES OMIM:616577 MESH:D004827|MESH:D008607|MESH:D012640|MESH:D034381 C09.218.458.341/616577|C10.228.140.490/616577|C10.597.606.360/616577|C10.597.742/616577|C10.597.751.418.341/616577|C23.888.592.604.646/616577|C23.888.592.742/616577|C23.888.592.763.393.341/616577|F03.625.539/616577 C09.218.458.341|C10.228.140.490|C10.597.606.360|C10.597.742|C10.597.751.418.341|C23.888.592.604.646|C23.888.592.742|C23.888.592.763.393.341|F03.625.539 EHLMRS|EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME|NEDHSB Ear-nose-throat disease|Mental disorder|Nervous system disease|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES OMIM:617171 MESH:D002658|MESH:D012640|MESH:D020820 C10.228.662.262/617171|C10.597.350/617171|C10.597.742/617171|C23.888.592.350/617171|C23.888.592.742/617171|F03.625.421/617171 C10.228.662.262|C10.597.350|C10.597.742|C23.888.592.350|C23.888.592.742|F03.625.421 DYSEIDD|DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER|NEDHELS Mental disorder|Nervous system disease|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES OMIM:616579 DO:DOID:0070070 MESH:D007806|MESH:D008607|MESH:D019066|MESH:D019465 C05.660.207/616579|C10.597.606.150.500/616579|C10.597.606.360/616579|C16.131.621.207/616579|C23.550.291.812/616579|C23.888.592.604.150.500/616579|C23.888.592.604.646/616579|F03.625.539/616579 C05.660.207|C10.597.606.150.500|C10.597.606.360|C16.131.621.207|C23.550.291.812|C23.888.592.604.150.500|C23.888.592.604.646|F03.625.539 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 40, FORMERLY|MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, FORMERLY|MRD40, FORMERLY|NEDHILD Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE OMIM:617268 MESH:D007805|MESH:D009123|MESH:D012640|MESH:D065886 C10.597.606.150.500.550/617268|C10.597.613.575/617268|C10.597.742/617268|C23.888.592.604.150.500.550/617268|C23.888.592.608.575/617268|C23.888.592.742/617268|F03.625/617268 C10.597.606.150.500.550|C10.597.613.575|C10.597.742|C23.888.592.604.150.500.550|C23.888.592.608.575|C23.888.592.742|F03.625 NDHSAL Mental disorder|Nervous system disease|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE OMIM:613443 DO:DOID:0070050 MESH:D004827|MESH:D008607|MESH:D009123|MESH:D013064|MESH:D019956 C10.228.140.490/613443|C10.597.606.150.500.800/613443|C10.597.606.360/613443|C10.597.613.575/613443|C23.888.592.604.150.500.800/613443|C23.888.592.604.646/613443|C23.888.592.608.575/613443|F03.625.539/613443|F03.625.984/613443 C10.228.140.490|C10.597.606.150.500.800|C10.597.606.360|C10.597.613.575|C23.888.592.604.150.500.800|C23.888.592.604.646|C23.888.592.608.575|F03.625.539|F03.625.984 MENTAL RETARDATION, AUTOSOMAL DOMINANT 20, FORMERLY|MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL, INCLUDED|MRD20, FORMERLY|NEDHSIL Mental disorder|Nervous system disease|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE OMIM:617051 MESH:D008607 C10.597.606.360/617051|C23.888.592.604.646/617051|F03.625.539/617051 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55, FORMERLY|MRT55, FORMERLY|NEDMIGS Mental disorder|Nervous system disease|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES OMIM:616158 DO:DOID:0070061 MESH:D008607 C10.597.606.360/616158|C23.888.592.604.646/616158|F03.625.539/616158 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, FORMERLY|MRD31, FORMERLY|NEDRIHF Mental disorder|Nervous system disease|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART OMIM:616975 MESH:D001927|MESH:D005124|MESH:D006330|MESH:D065886 C10.228.140/616975|C11.250/616975|C14.240.400/616975|C14.280.400/616975|C16.131.240.400/616975|C16.131.384/616975|F03.625/616975 C10.228.140|C11.250|C14.240.400|C14.280.400|C16.131.240.400|C16.131.384|F03.625 NEDBEH Cardiovascular disease|Congenital abnormality|Eye disease|Mental disorder|Nervous system disease NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT OMIM:614254 DO:DOID:0070038 MESH:D008607 C10.597.606.360/614254|C23.888.592.604.646/614254|F03.625.539/614254 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 8, FORMERLY|MRD8, FORMERLY|NDHMSD Mental disorder|Nervous system disease|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY OMIM:616917 MESH:C562568|MESH:D008607|MESH:D012640 C10.500/C562568/616917|C10.597.606.360/616917|C10.597.742/616917|C16.131.666/C562568/616917|C23.888.592.604.646/616917|C23.888.592.742/616917|F03.625.421/C562568/616917|F03.625.539/616917 C10.500/C562568|C10.597.606.360|C10.597.742|C16.131.666/C562568|C23.888.592.604.646|C23.888.592.742|F03.625.421/C562568|F03.625.539 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13|GPIBD13|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 53, FORMERLY|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, FORMERLY|MRT53, FORMERLY|NEDHSCA Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES OMIM:616486 DO:DOID:0070277 MESH:D008831|MESH:D065886 C05.660.207.620/616486|C10.500.507.400.500/616486|C16.131.621.207.620/616486|C16.131.666.507.400.500/616486|F03.625/616486 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|F03.625 MCPH15|MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE|NEDMISBA Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES OMIM:619026 MESH:D002547|MESH:D065886 C10.228.140.140.254/619026|F03.625/619026 C10.228.140.140.254|F03.625 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, FORMERLY|CPSQ1, FORMERLY|NEDSWMA Mental disorder|Nervous system disease NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS OMIM:615075 DO:DOID:0070049 MESH:D008607|MESH:D014786 C10.597.606.360/615075|C10.597.751.941/615075|C11.966/615075|C23.888.592.604.646/615075|C23.888.592.763.941/615075|F03.625.539/615075 C10.597.606.360|C10.597.751.941|C11.966|C23.888.592.604.646|C23.888.592.763.941|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, FORMERLY|MRD19, FORMERLY|NEDSDV Eye disease|Mental disorder|Nervous system disease|Signs and symptoms NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY OMIM:616281 MESH:D008831|MESH:D015419|MESH:D065886 C05.660.207.620/616281|C10.500.300.820/616281|C10.500.507.400.500/616281|C10.574.500.495.820/616281|C10.668.829.800.300.820/616281|C16.131.621.207.620/616281|C16.131.666.300.820/616281|C16.131.666.507.400.500/616281|C16.320.400.375.820/616281|F03.625/616281 C05.660.207.620|C10.500.300.820|C10.500.507.400.500|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.621.207.620|C16.131.666.300.820|C16.131.666.507.400.500|C16.320.400.375.820|F03.625 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, FORMERLY|MRT49, FORMERLY|NEDSPM Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease Neuroectodermal Tumor, Melanotic MESH:D017600 DO:DOID:166 A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed) MESH:D017599 C04.557.465.625.630|C04.557.580.625.630 C04.557.465.625|C04.557.580.625 Anlage Tumor, Retinal|Anlage Tumors, Retinal|Melanoameloblastoma|Melanoameloblastomas|Melanotic Neuroectodermal Tumor|Melanotic Neuroectodermal Tumors|Melanotic Progonoma|Melanotic Progonomas|Neuroectodermal Tumors, Melanotic|Progonoma, Melanotic|Progonomas, Melanotic|Retinal Anlage Tumor|Retinal Anlage Tumors|Tumor, Melanotic Neuroectodermal|Tumor, Retinal Anlage|Tumors, Melanotic Neuroectodermal|Tumors, Retinal Anlage Cancer Neuroectodermal Tumors MESH:D017599 DO:DOID:171 Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. MESH:D009373|MESH:D009380 C04.557.465.625|C04.557.580.625 C04.557.465|C04.557.580 Neuroectodermal Tumor|Tumor, Neuroectodermal|Tumors, Neuroectodermal Cancer Neuroectodermal Tumors, Primitive MESH:D018242 DO:DOID:0050902|DO:DOID:0080903|DO:DOID:4790|DO:DOID:7398 A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059) MESH:D018302 C04.557.465.625.600.590|C04.557.470.670.590|C04.557.580.625.600.590 C04.557.465.625.600|C04.557.470.670|C04.557.580.625.600 Cerebral Primitive Neuroectodermal Tumor|Ependymoblastoma|Ependymoblastomas|Medulloepithelioma|Medulloepitheliomas|Neoplasm, Primitive Neuroepithelial|Neoplasms, Primitive Neuroepithelial|Neuroectodermal Tumor, Primitive|Neuroepithelial Neoplasm, Primitive|Neuroepithelial Neoplasms, Primitive|Neuroepithelial Tumor, Primitive|Neuroepithelial Tumors, Primitive|PNET|PNETs|Primitive Neuroectodermal Tumor|Primitive Neuroectodermal Tumors|Primitive Neuroepithelial Neoplasm|Primitive Neuroepithelial Neoplasms|Primitive Neuroepithelial Tumor|Primitive Neuroepithelial Tumors|Spongioblastoma|Spongioblastomas|Tumor, Primitive Neuroectodermal|Tumor, Primitive Neuroepithelial|Tumors, Primitive Neuroectodermal|Tumors, Primitive Neuroepithelial Cancer Neuroectodermal Tumors, Primitive, Peripheral MESH:D018241 DO:DOID:3369 A group of highly cellular primitive round cell neoplasms which occur extracranially in soft tissue and bone and are derived from embryonal neural crest cells. These tumors occur primarily in children and adolescents and share a number of characteristics with EWING SARCOMA. MESH:D018242 C04.557.465.625.600.590.650|C04.557.470.670.590.650|C04.557.580.625.600.590.650 C04.557.465.625.600.590|C04.557.470.670.590|C04.557.580.625.600.590 Extracranial Primitive Neuroectodermal Tumor|Neuroectodermal Neoplasm, Peripheral Primitive|Neuroectodermal Tumor, Peripheral|Neuroectodermal Tumor, Peripheral Primitive|Neuroectodermal Tumors, Peripheral|Neuroepithelioma, Peripheral|Neuroepitheliomas, Peripheral|Peripheral Neuroectodermal Tumor|Peripheral Neuroectodermal Tumors|Peripheral Neuroepithelioma|Peripheral Neuroepitheliomas|Peripheral Primitive Neuroectodermal Neoplasm|Peripheral Primitive Neuroectodermal Tumor|Peripheral Primitive Neuroectodermal Tumors|(pPNET) Peripheral Primitive Neuroectodermal Tumors|Primitive Neuroectodermal Tumor, Extracranial|Tumor, Peripheral Neuroectodermal|Tumors, Peripheral Neuroectodermal Cancer Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia MESH:C566352 MESH:D003744|MESH:D006319|MESH:D012468|MESH:D018278 C04.557.465.625.650.240/C566352|C04.557.470.200.025.370/C566352|C04.557.580.625.650.240/C566352|C04.588.443.591.824/C566352|C07.465.530.824/C566352|C07.465.815.718/C566352|C07.650.800.295.625/C566352|C07.793.700.295.625/C566352|C09.218.458.341.887/C566352|C10.597.751.418.341.887/C566352|C16.131.850.800.295.625/C566352|C23.888.592.763.393.341.887/C566352 C04.557.465.625.650.240|C04.557.470.200.025.370|C04.557.580.625.650.240|C04.588.443.591.824|C07.465.530.824|C07.465.815.718|C07.650.800.295.625|C07.793.700.295.625|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.850.800.295.625|C23.888.592.763.393.341.887 Cancer|Congenital abnormality|Ear-nose-throat disease|Mouth disease|Nervous system disease|Signs and symptoms Neuroendocrine Tumors MESH:D018358 DO:DOID:169 Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition. MESH:D017599 C04.557.465.625.650|C04.557.580.625.650 C04.557.465.625|C04.557.580.625 Neuroendocrine Tumor|Tumor, Neuroendocrine|Tumors, Neuroendocrine Cancer Neurofaciodigitorenal syndrome MESH:C537388 MESH:D000015|MESH:D006130|MESH:D006228|MESH:D008607|MESH:D019465 C05.390.408/C537388|C05.660.207/C537388|C05.660.585.988.425/C537388|C10.597.606.360/C537388|C16.131.077/C537388|C16.131.621.207/C537388|C16.131.621.585.988.500/C537388|C23.550.393/C537388|C23.888.592.604.646/C537388|F03.625.539/C537388 C05.390.408|C05.660.207|C05.660.585.988.425|C10.597.606.360|C16.131.077|C16.131.621.207|C16.131.621.585.988.500|C23.550.393|C23.888.592.604.646|F03.625.539 Freire-Maia Pinheiro Opitz syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Neuroferritinopathy MESH:C548080 DO:DOID:0110737|OMIM:606159 MESH:D019150|MESH:D019189 C10.228.140.744/C548080|C18.452.565/C548080 C10.228.140.744|C18.452.565 Basal Ganglia Disease, Adult-Onset|Ferritin-Related Neurodegeneration|Hereditary Ferritinopathy|NBIA3|Neurodegeneration With Brain Iron Accumulation 3|NEUROFERRITINOPATHY Metabolic disease|Nervous system disease Neurofibroma MESH:D009455 DO:DOID:962 A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016) MESH:D018317 C04.557.580.600.580|C10.551.775.500.750|C10.668.829.725.500.600 C04.557.580.600|C10.551.775.500|C10.668.829.725.500 Neurofibromas Cancer|Nervous system disease Neurofibroma, Plexiform MESH:D018318 DO:DOID:5151 A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82) MESH:D009455 C04.557.580.600.580.585|C10.551.775.500.750.500|C10.668.829.725.500.600.500 C04.557.580.600.580|C10.551.775.500.750|C10.668.829.725.500.600 Elephantiasis Neuromatoses|Elephantiasis Neuromatosis|Neurofibromas, Plexiform|Neuroma, Plexiform|Neuromas, Plexiform|Pachydermatocele|Pachydermatoceles|Plexiform Neurofibroma|Plexiform Neurofibromas|Plexiform Neuroma|Plexiform Neuromas|Tumor Royale Cancer|Nervous system disease Neurofibromatoses MESH:D017253 DO:DOID:8712 A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72) MESH:D009386|MESH:D009455|MESH:D020271|MESH:D020752 C04.557.580.600.580.590|C04.700.631|C10.562.600|C10.574.500.549|C16.320.400.560|C16.320.700.633 C04.557.580.600.580|C04.700|C10.562|C10.574.500|C16.320.400|C16.320.700 Multiple Neurofibroma|Multiple Neurofibromas|Neurofibroma, Multiple|Neurofibromas, Multiple|Neurofibromatosis|Neurofibromatosis 3|Neurofibromatosis 3s|Neurofibromatosis Syndrome|Neurofibromatosis Syndromes|Neurofibromatosis Type 3|Neurofibromatosis Type 3s|Syndrome, Neurofibromatosis|Syndromes, Neurofibromatosis|Type 3, Neurofibromatosis Cancer|Genetic disease (inborn)|Nervous system disease Neurofibromatosis 1 MESH:D009456 DO:DOID:0111253|OMIM:162200 An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). MESH:D010523|MESH:D017253 C04.557.580.600.580.590.650|C04.700.631.650|C10.562.600.500|C10.574.500.549.400|C10.668.829.675|C16.320.400.560.400|C16.320.700.633.650 C04.557.580.600.580.590|C04.700.631|C10.562.600|C10.574.500.549|C10.668.829|C16.320.400.560|C16.320.700.633 Cafe au Lait Spots with Pulmonic Stenosis|Cafe-au-Lait Spots with Pulmonic Stenosis|Molluscum Fibrosum|Neurofibromatoses, Peripheral|Neurofibromatoses, Type I|Neurofibromatosis I|Neurofibromatosis, Peripheral|Neurofibromatosis, Peripheral, NF 1|Neurofibromatosis, Peripheral, NF1|Neurofibromatosis, Peripheral Type|Neurofibromatosis Type 1|Neurofibromatosis, Type 1|Neurofibromatosis Type I|Neurofibromatosis, Type I|NF1|NF1 (Neurofibromatosis 1)|Peripheral Neurofibromatoses|Peripheral Neurofibromatosis|Pulmonic Stenosis with Cafe au Lait Spots|Pulmonic Stenosis with Cafe-au-Lait Spots|Recklinghausen Disease, Nerve|Recklinghausen Disease of Nerve|Recklinghausen's Disease of Nerve|Recklinghausens Disease of Nerve|Syndrome, Watson|Type 1 Neurofibromatosis|Type 1, Neurofibromatosis|Type I Neurofibromatoses|Type I, Neurofibromatosis|von Recklinghausen Disease|von Recklinghausen's Disease|von Recklinghausens Disease|Watson Syndrome Cancer|Genetic disease (inborn)|Nervous system disease Neurofibromatosis 2 MESH:D016518 DO:DOID:0111252|OMIM:101000 An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life. MESH:D009464|MESH:D017253 C04.557.465.625.650.595.610.500|C04.557.580.600.580.590.655|C04.557.580.600.610.595.610.500|C04.700.631.655|C09.218.807.800.675.500|C09.647.675.500|C10.292.225.750.500|C10.292.910.600.500|C10.562.600.750|C10.574.500.549.700|C16.320.400.560.700|C16.320.700.633.655 C04.557.465.625.650.595.610|C04.557.580.600.580.590|C04.557.580.600.610.595.610|C04.700.631|C09.218.807.800.675|C09.647.675|C10.292.225.750|C10.292.910.600|C10.562.600|C10.574.500.549|C16.320.400.560|C16.320.700.633 ACN, FORMERLY|Acoustic Neurinoma, Bilateral|ACOUSTIC NEURINOMA, BILATERAL, FORMERLY|Acoustic Neurinomas, Bilateral|Acoustic Neurofibromatoses, Bilateral|Acoustic Neurofibromatosis, Bilateral|Acoustic Neuroma, Familial|Acoustic Neuromas, Familial|Acoustic Schwannoma, Bilateral|Acoustic Schwannomas, Bilateral|ACOUSTIC SCHWANNOMAS, BILATERAL, FORMERLY|BANF, FORMERLY|Bilateral Acoustic Neurinoma|Bilateral Acoustic Neurinomas|Bilateral Acoustic Neurofibromatoses|Bilateral Acoustic Neurofibromatosis|BILATERAL ACOUSTIC NEUROFIBROMATOSIS, FORMERLY|Bilateral Acoustic Schwannoma|Bilateral Acoustic Schwannomas|Central Neurofibromatoses|Central Neurofibromatosis|Central NF2 Neurofibromatoses|Central NF2 Neurofibromatosis|Familial Acoustic Neuroma|Familial Acoustic Neuromas|Neurinoma, Bilateral Acoustic|Neurinomas, Bilateral Acoustic|Neurofibromatoses, Bilateral Acoustic|Neurofibromatoses, Central|Neurofibromatoses, Central NF2|Neurofibromatoses, Type 2|Neurofibromatoses, Type II|Neurofibromatosis, Acoustic, Bilateral|Neurofibromatosis, Bilateral Acoustic|Neurofibromatosis, Central|Neurofibromatosis, Central NF2|Neurofibromatosis, Central, NF 2|Neurofibromatosis, Central, NF2|Neurofibromatosis, central type|Neurofibromatosis II|Neurofibromatosis IIs|Neurofibromatosis Type 2|Neurofibromatosis, Type 2|Neurofibromatosis Type II|Neurofibromatosis, Type II|Neuroma, Acoustic, Bilateral|Neuroma, Familial Acoustic|Neuromas, Familial Acoustic|NF2|NF2 (Neurofibromatosis 2)|NF2s (Neurofibromatosis 2)|Schwannoma, Acoustic, Bilateral|Schwannoma, Bilateral Acoustic|Schwannomas, Bilateral Acoustic|SCHWANNOMATOSIS 3|SCHWANNOMATOSIS, VESTIBULAR|SWN3|SWNV|Type 2 Neurofibromatoses|Type 2 Neurofibromatosis|Type II Neurofibromatoses|Type II Neurofibromatosis Cancer|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease Neurofibromatosis, familial intestinal MESH:C537391 MESH:D017253 C04.557.580.600.580.590/C537391|C04.700.631/C537391|C10.562.600/C537391|C10.574.500.549/C537391|C16.320.400.560/C537391|C16.320.700.633/C537391 C04.557.580.600.580.590|C04.700.631|C10.562.600|C10.574.500.549|C16.320.400.560|C16.320.700.633 Neurofibromatosis 3B Cancer|Genetic disease (inborn)|Nervous system disease Neurofibromatosis, Familial Spinal MESH:C563523 OMIM:162210 MESH:D017253 C04.557.580.600.580.590/C563523|C04.700.631/C563523|C10.562.600/C563523|C10.574.500.549/C563523|C16.320.400.560/C563523|C16.320.700.633/C563523 C04.557.580.600.580.590|C04.700.631|C10.562.600|C10.574.500.549|C16.320.400.560|C16.320.700.633 FSNF Cancer|Genetic disease (inborn)|Nervous system disease Neurofibromatosis-Noonan syndrome MESH:C537393 DO:DOID:0111683|OMIM:601321 MESH:D009634|MESH:D017253 C04.557.580.600.580.590/C537393|C04.700.631/C537393|C05.660.207.690/C537393|C10.562.600/C537393|C10.574.500.549/C537393|C14.240.400.787/C537393|C14.280.400.787/C537393|C16.131.240.400.784/C537393|C16.131.621.207.690/C537393|C16.320.400.560/C537393|C16.320.700.633/C537393|C17.300.690/C537393 C04.557.580.600.580.590|C04.700.631|C05.660.207.690|C10.562.600|C10.574.500.549|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C16.320.400.560|C16.320.700.633|C17.300.690 Neurofibromatosis with Noonan phenotype|NFNS|Noonan neurofibromatosis syndrome|Noonan-Neurofibromatosis Syndrome Cancer|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome MESH:C563522 MESH:D000310|MESH:D002276|MESH:D004379|MESH:D010673|MESH:D017253 C04.557.465.625.650.200/C563522|C04.557.465.625.650.700.725/C563522|C04.557.470.200.025.200/C563522|C04.557.580.600.580.590/C563522|C04.557.580.625.650.200/C563522|C04.557.580.625.650.700.725/C563522|C04.588.274.476.411.445/C563522|C04.588.322.078/C563522|C04.700.631/C563522|C06.301.371.411.445/C563522|C06.405.249.411.445/C563522|C06.405.469.275.270/C563522|C06.405.469.491.445/C563522|C10.562.600/C563522|C10.574.500.549/C563522|C16.320.400.560/C563522|C16.320.700.633/C563522|C19.053.347/C563522|C19.344.078/C563522 C04.557.465.625.650.200|C04.557.465.625.650.700.725|C04.557.470.200.025.200|C04.557.580.600.580.590|C04.557.580.625.650.200|C04.557.580.625.650.700.725|C04.588.274.476.411.445|C04.588.322.078|C04.700.631|C06.301.371.411.445|C06.405.249.411.445|C06.405.469.275.270|C06.405.469.491.445|C10.562.600|C10.574.500.549|C16.320.400.560|C16.320.700.633|C19.053.347|C19.344.078 Duodenal Carcinoid Syndrome Cancer|Digestive system disease|Endocrine system disease|Genetic disease (inborn)|Nervous system disease Neurofibromatosis, Type 3, mixed central and peripheral MESH:C537389 MESH:D017253 C04.557.580.600.580.590/C537389|C04.700.631/C537389|C10.562.600/C537389|C10.574.500.549/C537389|C16.320.400.560/C537389|C16.320.700.633/C537389 C04.557.580.600.580.590|C04.700.631|C10.562.600|C10.574.500.549|C16.320.400.560|C16.320.700.633 Neurofibromas, Palmar Cutaneous|Neurofibromatosis, Type 3, Riccardi type|Neurofibromatosis, Type III, Mixed Central and Peripheral|Neurofibromatosis, Type III, of Riccardi|Neurofibromatosis, Type III, Riccardi Type Cancer|Genetic disease (inborn)|Nervous system disease Neurofibromatosis, type 4, of Riccardi MESH:C537392 MESH:D017253 C04.557.580.600.580.590/C537392|C04.700.631/C537392|C10.562.600/C537392|C10.574.500.549/C537392|C16.320.400.560/C537392|C16.320.700.633/C537392 C04.557.580.600.580.590|C04.700.631|C10.562.600|C10.574.500.549|C16.320.400.560|C16.320.700.633 Neurofibromatosis, atypical|Neurofibromatosis, Type Iv, Of Riccardi|Neurofibromatosis, variant form(s) of Cancer|Genetic disease (inborn)|Nervous system disease Neurofibromatosis type 5 MESH:C537390 MESH:D017253 C04.557.580.600.580.590/C537390|C04.700.631/C537390|C10.562.600/C537390|C10.574.500.549/C537390|C16.320.400.560/C537390|C16.320.700.633/C537390 C04.557.580.600.580.590|C04.700.631|C10.562.600|C10.574.500.549|C16.320.400.560|C16.320.700.633 Neurofibromatosis type V|Segmental neurofibromatosis Cancer|Genetic disease (inborn)|Nervous system disease Neurofibrosarcoma MESH:D018319 DO:DOID:3512|DO:DOID:5940 A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72) MESH:D005354|MESH:D009455 C04.557.450.565.590.350.590|C04.557.450.795.350.590|C04.557.580.600.580.795|C10.551.775.500.750.750|C10.668.829.725.500.600.600 C04.557.450.565.590.350|C04.557.450.795.350|C04.557.580.600.580|C10.551.775.500.750|C10.668.829.725.500.600 Malignant Neurilemmoma|Malignant Neurilemmomas|Malignant Neurilemoma|Malignant Neurilemomas|Malignant Peripheral Nerve Sheath Tumor|Malignant Peripheral Nerve Sheath Tumors|Malignant Schwannoma|Malignant Schwannomas|MPNST|Neurilemmoma, Malignant|Neurilemmosarcoma|Neurilemmosarcomas|Neurilemoma, Malignant|Neurofibrosarcomas|Neurogenic Sarcoma|Neurogenic Sarcomas|Peripheral Nerve Sheath Tumors, Malignant|Sarcoma, Neurogenic|Sarcomas, Neurogenic|Schwannoma, Malignant Cancer|Nervous system disease Neurogenic Bowel MESH:D055496 DO:DOID:13419 Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body. MESH:D003109 C06.405.469.158.272.804 C06.405.469.158.272 Bowel, Neurogenic|Bowels, Neurogenic|Neurogenic Bowels Digestive system disease Neurogenic Inflammation MESH:D020078 Inflammation caused by an injurious stimulus of peripheral neurons and resulting in release of neuropeptides which affect vascular permeability and help initiate proinflammatory and immune reactions at the site of injury. MESH:D007249|MESH:D009461 C10.597.609|C23.550.470.448 C10.597|C23.550.470 Inflammation, Neurogenic|Inflammations, Neurogenic|Neurogenic Inflammations Nervous system disease|Pathology (process) Neuroinflammatory Diseases MESH:D000090862 Diseases characterized by inflammation of the nervous tissue. MESH:D007249|MESH:D009422 C10.586|C23.550.470.544 C10|C23.550.470 Disease, Neuroinflammatory|Disorder, Neuroinflammatory|Neuroinflammation|Neuroinflammations|Neuroinflammatory Disease|Neuroinflammatory Disorder|Neuroinflammatory Disorders Nervous system disease|Pathology (process) Neuroleptic Malignant Syndrome MESH:D009459 DO:DOID:14464 A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72) MESH:D001480|MESH:D020258 C10.228.140.079.737|C10.720.737|C25.723.705.600 C10.228.140.079|C10.720|C25.723.705 Neuroleptic Induced Neuroleptic Malignant Syndrome|Neuroleptic-Induced Neuroleptic Malignant Syndrome|Neuroleptic Malignant Syndrome, Neuroleptic Induced|Neuroleptic-Malignant Syndrome, Neuroleptic Induced|Neuroleptic Malignant Syndromes|NMS (Neuroleptic Malignant Syndrome)|NMSs (Neuroleptic Malignant Syndrome)|Syndrome, Neuroleptic Malignant|Syndromes, Neuroleptic Malignant Nervous system disease Neurologic Disease, Infantile Multisystem, with Osseous Fragility MESH:C564954 MESH:D006618|MESH:D008607|MESH:D009422|MESH:D010024|MESH:D050723 C05.116.198.579/C564954|C05.660.297.500/C564954|C10.597.606.360/C564954|C10/C564954|C16.131.621.297.500/C564954|C16.131.621.449/C564954|C18.452.104.579/C564954|C23.888.592.604.646/C564954|C26.404/C564954|F03.625.539/C564954 C05.116.198.579|C05.660.297.500|C10|C10.597.606.360|C16.131.621.297.500|C16.131.621.449|C18.452.104.579|C23.888.592.604.646|C26.404|F03.625.539 Congenital abnormality|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Wounds and injuries NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 1 OMIM:616263 MESH:D004700|MESH:D009422|MESH:D010182 C06.689/616263|C10/616263|C19/616263 C06.689|C10|C19 IMNEPD|IMNEPD1 Digestive system disease|Endocrine system disease|Nervous system disease Neurologic Manifestations MESH:D009461 Clinical signs and symptoms caused by nervous system injury or dysfunction. MESH:D009422|MESH:D012816 C10.597|C23.888.592 C10|C23.888 Deficit, Focal Neurologic|Deficit, Neurologic|Deficits, Focal Neurologic|Deficits, Neurologic|Dysfunction, Neurologic|Dysfunctions, Neurologic|Finding, Neurologic|Findings, Neurologic|Focal Neurologic Deficit|Focal Neurologic Deficits|Manifestation, Neurologic|Manifestation, Neurological|Manifestations, Neurologic|Manifestations, Neurological|Neurological Manifestation|Neurological Manifestations|Neurologic Deficit|Neurologic Deficit, Focal|Neurologic Deficits|Neurologic Deficits, Focal|Neurologic Dysfunction|Neurologic Dysfunctions|Neurologic Finding|Neurologic Findings|Neurologic Manifestation|Neurologic Sign|Neurologic Signs|Neurologic Signs and Symptoms|Neurologic Symptom|Neurologic Symptoms|Sign, Neurologic|Signs, Neurologic|Symptom, Neurologic|Symptoms, Neurologic Nervous system disease|Signs and symptoms Neurolymphomatosis MESH:D000077162 Infiltration of the nervous system by malignant lymphoma cells. MESH:D009423 C10.551.568 C10.551 Neurolymphomatoses|Neurolymphomatoses, Primary|Neurolymphomatosis, Primary|Primary Neurolymphomatoses|Primary Neurolymphomatosis Nervous system disease Neuroma MESH:D009463 DO:DOID:2001 A tumor made up of nerve cells and nerve fibers. (Dorland, 27th ed) MESH:D018317 C04.557.580.600.610 C04.557.580.600 Neuromas Cancer Neuroma, Acoustic MESH:D009464 DO:DOID:12689 A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673) MESH:D000160|MESH:D003390|MESH:D009442|MESH:D010039 C04.557.465.625.650.595.610|C04.557.580.600.610.595.610|C04.557.580.625.650.595.610|C04.588.614.300.015|C04.588.614.596.240.015|C09.218.807.800.675|C09.647.675|C10.292.225.750|C10.292.910.600 C04.557.465.625.650.595|C04.557.580.600.610.595|C04.557.580.625.650.595|C04.588.614.300|C04.588.614.596.240|C09.218.807.800|C09.647|C10.292.225|C10.292.910 Acoustic Neurilemmoma|Acoustic Neurilemmomas|Acoustic Neurilemoma|Acoustic Neurilemomas|Acoustic Neurinoma|Acoustic Neurinomas|Acoustic Neuroma|Acoustic Neuroma, Cerebellopontine Angle|Acoustic Neuromas|Acoustic Schwannoma|Acoustic Schwannomas|Acoustic Tumor|Acoustic Tumors|Angle Tumor|Angle Tumor, Cerebellopontine|Angle Tumors|Angle Tumors, Cerebellopontine|Cerebellopontine Angle Acoustic Neuroma|Cerebellopontine Angle Tumor|Cerebellopontine Angle Tumors|Melanocytic Vestibular Schwannoma|Melanocytic Vestibular Schwannomas|Neurilemmoma, Acoustic|Neurilemmomas, Acoustic|Neurilemoma, Acoustic|Neurilemomas, Acoustic|Neurinoma, Acoustic|Neurinoma of the Acoustic Nerve|Neurinomas, Acoustic|Neuroma, Acoustic, Unilateral|Neuromas, Acoustic|Schwannoma, Acoustic|Schwannoma, Melanocytic Vestibular|Schwannomas, Acoustic|Schwannomas, Melanocytic Vestibular|Schwannomas, Vestibular|Schwannoma, Vestibular|Tumor, Acoustic|Tumor, Angle|Tumor, Cerebellopontine Angle|Tumors, Acoustic|Tumors, Angle|Tumors, Cerebellopontine Angle|Vestibular Schwannoma|Vestibular Schwannoma, Melanocytic|Vestibular Schwannomas|Vestibular Schwannomas, Melanocytic Cancer|Ear-nose-throat disease|Nervous system disease Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber MESH:C567162 MESH:D020512 C05.651.575.300/C567162|C10.668.491.550.300/C567162 C05.651.575.300|C10.668.491.550.300 CNMDU1 Musculoskeletal disease|Nervous system disease Neuromuscular Diseases MESH:D009468 DO:DOID:440 A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA. MESH:D009422 C10.668 C10 Amyotonia Congenita|Benign Fasciculation-Cramp Syndrome|Benign Fasciculation-Cramp Syndromes|Cramp Fasciculation Syndrome|Cramp-Fasciculation Syndrome|Cramp-Fasciculation Syndromes|Fasciculation Cramp Syndrome, Benign|Fasciculation-Cramp Syndrome, Benign|Fasciculation-Cramp Syndromes, Benign|Foley Denny Brown Syndrome|Foley-Denny-Brown Syndrome|Neuromuscular Disease|Oppenheim Disease|Oppenheim's Disease|Oppenheims Disease|Syndrome, Cramp-Fasciculation|Syndrome, Foley-Denny-Brown|Syndromes, Cramp-Fasciculation Nervous system disease Neuromuscular Junction Diseases MESH:D020511 DO:DOID:439 Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions. MESH:D009468 C10.668.758 C10.668 Neuromuscular Junction Disease|Neuromuscular Junction Disorder|Neuromuscular Junction Disorders|Neuromuscular Junction Toxic Disorders|Neuromuscular Transmission Disorder|Neuromuscular Transmission Disorders|Toxic Disorders, Neuromuscular Junction Nervous system disease Neuromuscular Manifestations MESH:D020879 Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves. MESH:D009461 C10.597.613|C23.888.592.608 C10.597|C23.888.592 Disease Manifestation, Muscle|Disease Manifestations, Muscle|Manifestation, Muscle Disease|Manifestation, Neuromuscular|Manifestations, Muscle Disease|Manifestations, Neuromuscular|Muscle Disease Manifestation|Muscle Disease Manifestations|Neuromuscular Manifestation|Neuromuscular Signs and Symptoms|Signs and Symptoms, Neuromuscular Nervous system disease|Signs and symptoms Neuromyelitis Optica MESH:D009471 DO:DOID:8869 A syndrome characterized by acute OPTIC NEURITIS; MYELITIS, TRANSVERSE; demyelinating and/or necrotizing lesions in the OPTIC NERVES and SPINAL CORD; and presence of specific autoantibodies to AQUAPORIN 4. MESH:D009188|MESH:D009902|MESH:D020278 C10.114.375.600.500|C10.114.375.800|C10.292.700.550.500|C10.314.350.600.500|C10.314.350.800|C11.640.576.695|C20.111.258.250.550.500|C20.111.258.250.775 C10.114.375|C10.114.375.600|C10.292.700.550|C10.314.350|C10.314.350.600|C11.640.576|C20.111.258.250|C20.111.258.250.550 Devic Disease|Devic Neuromyelitis Optica|Devic Neuromyelitis Opticas|Devic's Disease|Devics Disease|Devic's Neuromyelitis Optica|Devics Neuromyelitis Optica|Devic's Syndrome|Devics Syndrome|Devic Syndrome|Disease, Devic|Disease, Devic's|Neuromyelitis Optica, Devic|Neuromyelitis Optica, Devic's|Neuromyelitis Optica (NMO) Spectrum Disorder|Neuromyelitis Optica (NMO) Spectrum Disorders|Neuromyelitis Opticas, Devic|Neuromyelitis Optica Spectrum Disorder|Neuromyelitis Optica Spectrum Disorders|NMO Spectrum Disorder|NMO Spectrum Disorders|Syndrome, Devic|Syndrome, Devic's Eye disease|Immune system disease|Nervous system disease Neuronal Ceroid-Lipofuscinoses MESH:D009472 DO:DOID:14503|OMIM:204200|OMIM:204300 A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure. MESH:D008064|MESH:D020271 C10.574.500.550|C16.320.400.600|C16.320.565.398.641.509|C18.452.584.563.641.509|C18.452.648.398.641.509 C10.574.500|C16.320.400|C16.320.565.398.641|C18.452.584.563.641|C18.452.648.398.641 Adult Neuronal Ceroid Lipofuscinosis|Amaurotic Idiocy, Adult Type|Batten Disease|Batten Disease, Juvenile|Batten Diseases, Juvenile|Batten Mayou Disease|Batten-Mayou Disease|Batten Spielmeyer Vogt Disease|Batten-Spielmeyer-Vogt Disease|Cerebroretinal Degeneration, Juvenile|Cerebroretinal Degenerations, Juvenile|Ceroid-Lipofuscinosis, CLN3-Related Neuronal|Ceroid Lipofuscinosis, Neuronal|Ceroid-Lipofuscinosis, Neuronal|Ceroid Lipofuscinosis, Neuronal, 3|Ceroid Lipofuscinosis, Neuronal 3, Juvenile|Ceroid Lipofuscinosis, Neuronal 4|Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive|Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant|CEROID LIPOFUSCINOSIS, NEURONAL, 6B (KUFS TYPE)|Ceroid Lipofuscinosis, Neuronal, Parry Type|Ceroid Storage Disease|Ceroid Storage Diseases|CLN3|CLN3-Related Neuronal Ceroid-Lipofuscinoses|CLN3 Related Neuronal Ceroid Lipofuscinosis|CLN3-Related Neuronal Ceroid-Lipofuscinosis|CLN4A|CLN4As|CLN4B|CLN6B|Disease, Ceroid Storage|Disease, Juvenile Batten|Disease, Kuf's|Disease, Lipofuscin Storage|Disease, Spielmeyer-Sjogren|Disease, Vogt Spielmeyer|Disease, Vogt-Spielmeyer|Infantile Neuronal Ceroid Lipofuscinosis|Jansky Bielschowsky Disease|Jansky-Bielschowsky Disease|JNCL|Juvenile Batten Disease|Juvenile Batten Diseases|Juvenile Cerebroretinal Degeneration|Juvenile Cerebroretinal Degenerations|Juvenile Neuronal Ceroid Lipofuscinosis|Kuf Disease|Kuf's Disease|Kufs Disease|Kufs Disease, Autosomal Dominant|Kufs Disease Autosomal Recessive|Kufs Disease, Autosomal Recessive|Kufs Type Neuronal Ceroid Lipofuscinosis|Late-Infantile Neuronal Ceroid Lipofuscinosis|Lipofuscinosis, Neuronal Ceroid|Lipofuscin Storage Disease|Lipofuscin Storage Diseases|Neuronal Ceroid Lipofuscinoses|Neuronal Ceroid-Lipofuscinoses, CLN3-Related|Neuronal Ceroid Lipofuscinosis|Neuronal Ceroid-Lipofuscinosis|Neuronal Ceroid Lipofuscinosis, Adult|Neuronal Ceroid Lipofuscinosis, Adult Type|Neuronal Ceroid-Lipofuscinosis, CLN3-Related|Neuronal Ceroid Lipofuscinosis, Infantile|Neuronal Ceroid Lipofuscinosis, Juvenile|Neuronal Ceroid Lipofuscinosis Juvenile Type|Neuronal Ceroid Lipofuscinosis, Late Infantile|Neuronal Ceroid Lipofuscinosis, Late-Infantile|Santavuori Haltia Disease|Santavuori-Haltia Disease|Spielmeyer Disease, Vogt|Spielmeyer Sjogren Disease|Spielmeyer-Sjogren Disease|Spielmeyer Vogt Disease|Spielmeyer-Vogt Disease|Storage Disease, Ceroid|Storage Disease, Lipofuscin|Vogt Spielmeyer Disease|Vogt-Spielmeyer Disease Genetic disease (inborn)|Metabolic disease|Nervous system disease Neuronal intestinal pseudoobstruction MESH:C537394 OMIM:243180|OMIM:601223 MESH:D007410|MESH:D009422 C06.405.469/C537394|C10/C537394 C06.405.469|C10 Argyrophil myenteric plexus, deficiency of|Intestinal pseudoobstruction due to neuronal disease|Neuronal intestinal dysplasia, type A|Neuronal Intestinal Dysplasia, Type B|NID A, INCLUDED|NID B|Pseudoobstruction, chronic idiopathic intestinal, neuronal type|PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, NEURONAL TYPE NEURONAL INTESTINAL DYSPLASIA, TYPE A, INCLUDED|VISCERAL NEUROPATHY, FAMILIAL, 1, AUTOSOMAL RECESSIVE|Visceral Neuropathy, Familial, Autosomal Recessive|VSCN1 Digestive system disease|Nervous system disease Neuronal intranuclear inclusion disease MESH:C537395 MESH:D019636 C10.574/C537395 C10.574 Nervous system disease NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4 OMIM:613376 DO:DOID:0111209 MESH:D010523 C10.668.829/613376 C10.668.829 DHMN2C|HMN2C|HMND4|HMN IIC|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIC|NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4|NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIC Nervous system disease NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 6 OMIM:615575 DO:DOID:0111210 MESH:D009134 C10.228.854.468/615575|C10.574.562.500/615575|C10.668.467.500/615575 C10.228.854.468|C10.574.562.500|C10.668.467.500 DHMN2D|HMN2D|HMND6|HMN IID|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IID|NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IID|SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT Nervous system disease NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 5 OMIM:614881 DO:DOID:0111214 MESH:D009134 C10.228.854.468/614881|C10.574.562.500/614881|C10.668.467.500/614881 C10.228.854.468|C10.574.562.500|C10.668.467.500 DSMA5|HMNR5|NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 5|SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 Nervous system disease Neuronopathy, Distal Hereditary Motor, Type I MESH:C566675 DO:DOID:0111200 MESH:D009134 C10.228.854.468/C566675|C10.574.562.500/C566675|C10.668.467.500/C566675 C10.228.854.468|C10.574.562.500|C10.668.467.500 Charcot-Marie-Tooth Disease, Spinal, I|Neuropathy, Distal Hereditary Motor, Type I|Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, I Nervous system disease Neuronopathy, Distal Hereditary Motor, Type IIB MESH:C567084 OMIM:608634 MESH:D009134 C10.228.854.468/C567084|C10.574.562.500/C567084|C10.668.467.500/C567084 C10.228.854.468|C10.574.562.500|C10.668.467.500 DHMN2B|HMN2B|HMND3|HMN IIB|NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIB|NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIB|Neuropathy, Distal Hereditary Motor, Type IIB Nervous system disease Neuronopathy, Distal Hereditary Motor, Type V MESH:C563443 DO:DOID:0111204|OMIM:600794|OMIM:614751 MESH:D009134 C10.228.854.468/C563443|C10.574.562.500/C563443|C10.668.467.500/C563443 C10.228.854.468|C10.574.562.500|C10.668.467.500 DHMN5|DHMN5A|DHMN5B|Dhmn-V|DHMN V|DHMN VA|DHMN VB|Distal Hereditary Motor Neuronopathy, Type V|Distal Hereditary Motor Neuropathy, Type V|Distal Spinal Muscular Atrophy, Type V|DSMAV|DSMAVA|DSMAVB|HMN5|HMN 5A|HMN5A|HMN5B|HMND12|HMND5|HMN V|HMN VB|NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 12|NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE V|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VA|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VB|NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VA|NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VB|Neuropathy, Distal Hereditary Motor, Type V|SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE V|SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VA|SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VB|Spinal Muscular Atrophy, Distal Type V|Spinal Muscular Atrophy, Distal, Type V|Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Nervous system disease Neuronopathy, Distal Hereditary Motor, Type Viib MESH:C564362 OMIM:607641 MESH:D009134 C10.228.854.468/C564362|C10.574.562.500/C564362|C10.668.467.500/C564362 C10.228.854.468|C10.574.562.500|C10.668.467.500 DHMN7B|HMN7B|HMND14|HMN VIIB|Lower Motor Neuron Disease, Dynactin Type|NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB|NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB|Neuropathy, Distal Hereditary Motor, Type VIIB|NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB|Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type VIIB Nervous system disease Neuropathy ataxia and retinitis pigmentosa MESH:C537396 DO:DOID:0111273|OMIM:551500 MESH:D012174|MESH:D017240 C05.651.460/C537396|C10.668.491.500/C537396|C11.270.684/C537396|C11.768.585.658.500/C537396|C16.320.290.684/C537396|C18.452.660.560/C537396 C05.651.460|C10.668.491.500|C11.270.684|C11.768.585.658.500|C16.320.290.684|C18.452.660.560 NARP syndrome|Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa|Neuropathy, Ataxia, and Retinitis Pigmentosa|Neuropathy, Ataxia, Retinitis Pigmentosa syndrome Eye disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Neuropathy, congenital, with arthrogryposis multiplex MESH:C535714 MESH:D001176 C05.550.150/C535714|C05.651.102/C535714|C05.660.077/C535714|C16.131.621.077/C535714 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex Congenital abnormality|Musculoskeletal disease Neuropathy, Distal Hereditary Motor, Type IIA MESH:C563561 OMIM:158590 MESH:D002607|MESH:D009134 C10.228.854.468/C563561|C10.500.300.200/C563561|C10.574.500.495.200/C563561|C10.574.562.500/C563561|C10.668.467.500/C563561|C10.668.829.800.300.200/C563561|C16.131.666.300.200/C563561|C16.320.400.375.200/C563561 C10.228.854.468|C10.500.300.200|C10.574.500.495.200|C10.574.562.500|C10.668.467.500|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Charcot-Marie-Tooth Disease, Spinal, IIA|DHMN2A|HMN2A|HMND2|HMN IIA|NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 2|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIA|Neuronopathy, Distal Hereditary Motor, Type IIA|NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIA|SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, HARDING TYPE IIA|Spinal Muscular Atrophy, Distal Adult Autosomal Dominant, IIA Congenital abnormality|Genetic disease (inborn)|Nervous system disease Neuropathy, Distal Hereditary Motor, Type VIIA MESH:C563562 OMIM:158580 MESH:D009134|MESH:D014826|MESH:D015417 C08.360.931/C563562|C09.400.931/C563562|C10.228.854.468/C563562|C10.292.887.800/C563562|C10.500.300/C563562|C10.574.500.495/C563562|C10.574.562.500/C563562|C10.597.622.943/C563562|C10.668.467.500/C563562|C10.668.829.800.300/C563562|C16.131.666.300/C563562|C16.320.400.375/C563562|C23.888.592.636.943/C563562 C08.360.931|C09.400.931|C10.228.854.468|C10.292.887.800|C10.500.300|C10.574.500.495|C10.574.562.500|C10.597.622.943|C10.668.467.500|C10.668.829.800.300|C16.131.666.300|C16.320.400.375|C23.888.592.636.943 DHMN7A|DHMNVP|Harper-Young Myopathy|HMN7A|HMND7|HMN VIIA|NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 7|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIA|NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIA|Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Respiratory tract disease|Signs and symptoms Neuropathy, hereditary motor and sensory, LOM type MESH:C535716 OMIM:601455 MESH:D002607|MESH:D012035 C10.228.140.163.100.813/C535716|C10.500.300.200/C535716|C10.500.300.780/C535716|C10.574.500.495.200/C535716|C10.574.500.495.780/C535716|C10.668.829.800.300.200/C535716|C10.668.829.800.300.780/C535716|C16.131.666.300.200/C535716|C16.131.666.300.780/C535716|C16.320.400.375.200/C535716|C16.320.400.375.780/C535716|C16.320.565.189.813/C535716|C16.320.565.663.760/C535716|C18.452.132.100.813/C535716|C18.452.648.189.813/C535716|C18.452.648.663.760/C535716 C10.228.140.163.100.813|C10.500.300.200|C10.500.300.780|C10.574.500.495.200|C10.574.500.495.780|C10.668.829.800.300.200|C10.668.829.800.300.780|C16.131.666.300.200|C16.131.666.300.780|C16.320.400.375.200|C16.320.400.375.780|C16.320.565.189.813|C16.320.565.663.760|C18.452.132.100.813|C18.452.648.189.813|C18.452.648.663.760 Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d|Charcot-Marie-Tooth Disease, Type 4D|Charcot-Marie-Tooth Neuropathy, Type 4d|CMT4D|Hereditary motor and sensory neuropathy, LOM type|HMSN4D|HMSNL|NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease Neuropathy, hereditary motor and sensory, Okinawa type MESH:C535717 OMIM:604484 MESH:D015417 C10.500.300/C535717|C10.574.500.495/C535717|C10.668.829.800.300/C535717|C16.131.666.300/C535717|C16.320.400.375/C535717 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE|HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE, FORMERLY|HMSNO|HMSNP|HMSNP, FORMERLY Congenital abnormality|Genetic disease (inborn)|Nervous system disease Neuropathy, hereditary motor and sensory, Russe type MESH:C535813 OMIM:605285 MESH:D015417 C10.500.300/C535813|C10.574.500.495/C535813|C10.668.829.800.300/C535813|C16.131.666.300/C535813|C16.320.400.375/C535813 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 Charcot-Marie-Tooth disease, autosomal recessive, type 4g|Charcot-Marie-Tooth disease, type 4g|Charcot-Marie-Tooth Neuropathy, Type 4g|Cmt4g|Hereditary motor and sensory neuropathy, Russe type|HMSNR Congenital abnormality|Genetic disease (inborn)|Nervous system disease NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY OMIM:616505 DO:DOID:0080068 MESH:D009896|MESH:D015417 C10.292.700.225/616505|C10.500.300/616505|C10.574.500.495/616505|C10.668.829.800.300/616505|C11.640.451/616505|C16.131.666.300/616505|C16.320.400.375/616505 C10.292.700.225|C10.500.300|C10.574.500.495|C10.668.829.800.300|C11.640.451|C16.131.666.300|C16.320.400.375 CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B|CMT6B|HMSN6B|HMSN VIB Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive MESH:C564947 MESH:D015417 C10.500.300/C564947|C10.574.500.495/C564947|C10.668.829.800.300/C564947|C16.131.666.300/C564947|C16.320.400.375/C564947 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 Charcot-Marie-Tooth Disease with Excessive Myelin Folding, Autosomal Recessive Congenital abnormality|Genetic disease (inborn)|Nervous system disease Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance MESH:C563517 MESH:D004402|MESH:D005128|MESH:D015417|MESH:D016472 C10.177.575.300/C563517|C10.500.250.309/C563517|C10.500.300/C563517|C10.574.500.493.250/C563517|C10.574.500.495/C563517|C10.574.562/C563517|C10.668.467/C563517|C10.668.829.800.175.250/C563517|C10.668.829.800.300/C563517|C11/C563517|C16.131.666.300/C563517|C16.131.666.310.309/C563517|C16.320.400.375/C563517|C16.320.400.415.309/C563517 C10.177.575.300|C10.500.250.309|C10.500.300|C10.574.500.493.250|C10.574.500.495|C10.574.562|C10.668.467|C10.668.829.800.175.250|C10.668.829.800.300|C11|C16.131.666.300|C16.131.666.310.309|C16.320.400.375|C16.320.400.415.309 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia MESH:C563870 MESH:D000857|MESH:D009477 C10.500.250/C563870|C10.574.500.493/C563870|C10.597.751.600/C563870|C10.668.829.800.175/C563870|C16.131.666.310/C563870|C16.320.400.415/C563870|C23.888.592.763.550/C563870 C10.500.250|C10.574.500.493|C10.597.751.600|C10.668.829.800.175|C16.131.666.310|C16.320.400.415|C23.888.592.763.550 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA OMIM:162400 DO:DOID:0070152 MESH:D009477 C10.500.250/162400|C10.574.500.493/162400|C10.668.829.800.175/162400|C16.131.666.310/162400|C16.320.400.415/162400 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 HSAN1|HSAN1A|HSAN IA|HSN1A|HSN IA|NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL DOMINANT, TYPE 1A|NEUROPATHY, HEREDITARY SENSORY, TYPE IA Congenital abnormality|Genetic disease (inborn)|Nervous system disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC OMIM:613640 DO:DOID:0070157 MESH:D009477 C10.500.250/613640|C10.574.500.493/613640|C10.668.829.800.175/613640|C16.131.666.310/613640|C16.320.400.415/613640 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 HSAN1C|HSAN IC|HSN1C|HSN IC|NEUROPATHY, HEREDITARY SENSORY, TYPE IC Congenital abnormality|Genetic disease (inborn)|Nervous system disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA OMIM:201300 DO:DOID:0070155 MESH:D009477 C10.500.250/201300|C10.574.500.493/201300|C10.668.829.800.175/201300|C16.131.666.310/201300|C16.320.400.415/201300 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 ACROOSTEOLYSIS, GIACCAI TYPE|ACROOSTEOLYSIS, NEUROGENIC|HSAN2A|HSAN IIA|HSN2A|HSN IIA|MORVAN DISEASE|NEUROPATHY, CONGENITAL SENSORY|NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE|NEUROPATHY, HEREDITARY SENSORY, TYPE IIA|NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN Congenital abnormality|Genetic disease (inborn)|Nervous system disease Neuropathy, Hereditary Sensory And Autonomic, Type IIB MESH:C567738 OMIM:613115 MESH:D009477 C10.500.250/C567738|C10.574.500.493/C567738|C10.668.829.800.175/C567738|C16.131.666.310/C567738|C16.320.400.415/C567738 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 HSAN2A|HSAN2B|HSAN IIA|HSN2A|HSN IIA|Neuropathy, Hereditary Sensory And Autonomic, Type IIA|Neuropathy, Hereditary Sensory, Type IIA Congenital abnormality|Genetic disease (inborn)|Nervous system disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux MESH:C564296 DO:DOID:0070148|OMIM:608088 MESH:D003371|MESH:D005764|MESH:D009477 C06.405.117.119.500.484/C564296|C08.618.248/C564296|C10.500.250/C564296|C10.574.500.493/C564296|C10.668.829.800.175/C564296|C16.131.666.310/C564296|C16.320.400.415/C564296|C23.888.852.293/C564296 C06.405.117.119.500.484|C08.618.248|C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415|C23.888.852.293 HSAN1B|HSN1B|Neuropathy, Hereditary Sensory And Autonomic, Type IB|Neuropathy, Hereditary Sensory, Type IB Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Nervous system disease|Respiratory tract disease|Signs and symptoms NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY OMIM:615031 DO:DOID:0110801 MESH:D002658|MESH:D015419 C10.500.300.820/615031|C10.574.500.495.820/615031|C10.668.829.800.300.820/615031|C16.131.666.300.820/615031|C16.320.400.375.820/615031|F03.625.421/615031 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|F03.625.421 HSAN9|SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, FORMERLY|SPG49, FORMERLY Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI OMIM:614653 DO:DOID:0070151 MESH:D009477 C10.500.250/614653|C10.574.500.493/614653|C10.668.829.800.175/614653|C16.131.666.310/614653|C16.320.400.415/614653 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 HSAN6|HSAN VI Congenital abnormality|Genetic disease (inborn)|Nervous system disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII OMIM:615548 DO:DOID:0070149 MESH:D009477 C10.500.250/615548|C10.574.500.493/615548|C10.668.829.800.175/615548|C16.131.666.310/615548|C16.320.400.415/615548 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 HSAN7|HSAN VII|INSENSITIVITY TO PAIN, CONGENITAL, WITH GASTROINTESTINAL DYSFUNCTION AND HYPERHIDROSIS Congenital abnormality|Genetic disease (inborn)|Nervous system disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII OMIM:616488 DO:DOID:0070153 MESH:D009477 C10.500.250/616488|C10.574.500.493/616488|C10.668.829.800.175/616488|C16.131.666.310/616488|C16.320.400.415/616488 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 HSAN8|HSAN VIII Congenital abnormality|Genetic disease (inborn)|Nervous system disease Neuropathy, Hereditary Sensory, Atypical MESH:C564946 MESH:D011115|MESH:D020271 C10.574.500/C564946|C10.668.829.800/C564946|C16.320.400/C564946 C10.574.500|C10.668.829.800|C16.320.400 Genetic disease (inborn)|Nervous system disease NEUROPATHY, HEREDITARY SENSORY, TYPE ID OMIM:613708 DO:DOID:0070156 MESH:D009477 C10.500.250/613708|C10.574.500.493/613708|C10.668.829.800.175/613708|C16.131.666.310/613708|C16.320.400.415/613708 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 HSN1D Congenital abnormality|Genetic disease (inborn)|Nervous system disease NEUROPATHY, HEREDITARY SENSORY, TYPE IE OMIM:614116 DO:DOID:0070158 MESH:D009477 C10.500.250/614116|C10.574.500.493/614116|C10.668.829.800.175/614116|C16.131.666.310/614116|C16.320.400.415/614116 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 HSN1E|HSN IE|NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA Congenital abnormality|Genetic disease (inborn)|Nervous system disease NEUROPATHY, HEREDITARY SENSORY, TYPE IF OMIM:615632 DO:DOID:0070154 MESH:D009477 C10.500.250/615632|C10.574.500.493/615632|C10.668.829.800.175/615632|C16.131.666.310/615632|C16.320.400.415/615632 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 HSN1F|HSN IF Congenital abnormality|Genetic disease (inborn)|Nervous system disease NEUROPATHY, HEREDITARY SENSORY, TYPE IIC OMIM:614213 DO:DOID:0070147 MESH:D009477 C10.500.250/614213|C10.574.500.493/614213|C10.668.829.800.175/614213|C16.131.666.310/614213|C16.320.400.415/614213 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.400.415 HSN2C Congenital abnormality|Genetic disease (inborn)|Nervous system disease Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive MESH:C564948 OMIM:256840 MESH:D015417 C10.500.300/C564948|C10.574.500.495/C564948|C10.668.829.800.300/C564948|C16.131.666.300/C564948|C16.320.400.375/C564948 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Neuropathy, Hereditary Sensory, X-Linked MESH:C564090 MESH:D009477|MESH:D040181 C10.500.250/C564090|C10.574.500.493/C564090|C10.668.829.800.175/C564090|C16.131.666.310/C564090|C16.320.322/C564090|C16.320.400.415/C564090 C10.500.250|C10.574.500.493|C10.668.829.800.175|C16.131.666.310|C16.320.322|C16.320.400.415 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Neuropathy, Hereditary Thermosensitive MESH:C566575 MESH:D015417 C10.500.300/C566575|C10.574.500.495/C566575|C10.668.829.800.300/C566575|C16.131.666.300/C566575|C16.320.400.375/C566575 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Neuropathy, Painful MESH:C564945 MESH:D010146|MESH:D010523 C10.668.829/C564945|C23.888.592.612/C564945 C10.668.829|C23.888.592.612 Nervous system disease|Signs and symptoms Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine MESH:C563516 MESH:D010523 C10.668.829/C563516 C10.668.829 Nervous system disease Neurosarcoidosis MESH:C535814 MESH:D002493|MESH:D012507 C10.228/C535814|C15.604.515.827/C535814|C20.543.418.575/C535814 C10.228|C15.604.515.827|C20.543.418.575 Nervous system sarcoidosis Immune system disease|Lymphatic disease|Nervous system disease Neuroschistosomiasis MESH:D020818 DO:DOID:13722 SCHISTOSOMIASIS of the brain, spinal cord, or meninges caused by infections with trematodes of the genus SCHISTOSOMA (primarily SCHISTOSOMA JAPONICUM; SCHISTOSOMA MANSONI; and SCHISTOSOMA HAEMATOBIUM in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2) MESH:D012552|MESH:D020809 C01.207.205.250.600|C01.610.105.250.600|C01.610.335.865.859.213|C01.920.922.213|C10.228.228.205.250.600 C01.207.205.250|C01.610.105.250|C01.610.335.865.859|C01.920.922|C10.228.228.205.250 Central Nervous System Schistosomiasis|Myelitis, Schistosomal|Myelopathies, Schistosomal|Myelopathy, Schistosomal|Myeloradiculopathies, Schistosomal|Myeloradiculopathy, Schistosomal|Neuroschistosomiases|Schistosomal Myelitis|Schistosomal Myelopathies|Schistosomal Myelopathy|Schistosomal Myeloradiculopathies|Schistosomal Myeloradiculopathy|Schistosomiasis, Central Nervous System Nervous system disease|Parasitic disease Neurosyphilis MESH:D009494 DO:DOID:10035|DO:DOID:10039|DO:DOID:9988 Infections of the central nervous system caused by TREPONEMA PALLIDUM which present with a variety of clinical syndromes. The initial phase of infection usually causes a mild or asymptomatic meningeal reaction. The meningovascular form may present acutely as BRAIN INFARCTION. The infection may also remain subclinical for several years. Late syndromes include general paresis; TABES DORSALIS; meningeal syphilis; syphilitic OPTIC ATROPHY; and spinal syphilis. General paresis is characterized by progressive DEMENTIA; DYSARTHRIA; TREMOR; MYOCLONUS; SEIZURES; and Argyll-Robertson pupils. (Adams et al., Principles of Neurology, 6th ed, pp722-8) MESH:D013587|MESH:D020806 C01.150.252.223.600|C01.150.252.400.794.840.500.750|C01.150.252.400.840.500.750|C01.207.180.600|C10.228.228.180.600 C01.150.252.223|C01.150.252.400.794.840.500|C01.150.252.400.840.500|C01.207.180|C10.228.228.180 Central Nervous System Syphilis|General Paralysis|General Paralysis of the Insane|General Paresis|General Paresis of the Insane|Juvenile Paresis|Neurosyphilis, Asymptomatic|Neurosyphilis, Gummatous|Neurosyphilis, Juvenile|Neurosyphilis, Secondary|Neurosyphilis, Symptomatic|Paralysis, General|Paretic Neurosyphilis|Secondary Neurosyphilis|Syphilis, Central Nervous System|Syphilis, CNS Bacterial infection or mycosis|Nervous system disease Neurothekeoma MESH:D018321 A benign myxoma of cutaneous nerve sheath origin. Theke is from the Greek theke, sheath. (From Stedman, 25th ed) MESH:D009232|MESH:D018317 C04.557.450.565.550.625|C04.557.580.600.625 C04.557.450.565.550|C04.557.580.600 Myxoma, Nerve Sheath|Myxomas, Nerve Sheath|Nerve Sheath Myxoma|Nerve Sheath Myxomas|Neurotheceoma|Neurotheceomas|Neurothecoma|Neurothecomas|Neurothekeomas Cancer Neurotic Disorders MESH:D009497 DO:DOID:4964 Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment. MESH:D001008|MESH:D001523 F03.080.550|F03.650 F03|F03.080 Disorder, Neurotic|Disorders, Neurotic|Neuroses|Neurotic Disorder|Psychoneuroses Mental disorder Neurotoxicity Syndromes MESH:D020258 DO:DOID:3602 Neurologic disorders caused by exposure to toxic substances through ingestion, injection, cutaneous application, or other method. This includes conditions caused by biologic, chemical, and pharmaceutical agents. MESH:D009422|MESH:D011041 C10.720|C25.723.705 C10|C25.723 Encephalitides, Toxic|Encephalitis, Toxic|Encephalopathies, Toxic|Encephalopathy, Toxic|Nervous System Poisoning|Nervous System Poisonings|Neurotoxic Disorder|Neurotoxic Disorders|Neurotoxicity Syndrome|Neurotoxin Disease|Neurotoxin Diseases|Neurotoxin Disorder|Neurotoxin Disorders|Poisoning, Nervous System|Poisonings, Nervous System|Syndrome, Neurotoxicity|Syndromes, Neurotoxicity|Toxic Encephalitides|Toxic Encephalitis|Toxic Encephalopathies|Toxic Encephalopathy Nervous system disease Neurovisceral Storage Disease with Curvilinear Bodies MESH:C564944 MESH:D008064 C16.320.565.398.641/C564944|C18.452.584.563.641/C564944|C18.452.648.398.641/C564944 C16.320.565.398.641|C18.452.584.563.641|C18.452.648.398.641 Genetic disease (inborn)|Metabolic disease Neutral Lipid Storage Disease with Myopathy MESH:C565192 OMIM:610717 MESH:D008052|MESH:D009135 C05.651/C565192|C10.668.491/C565192|C16.320.565.398/C565192|C18.452.584.563/C565192|C18.452.648.398/C565192 C05.651|C10.668.491|C16.320.565.398|C18.452.584.563|C18.452.648.398 Neutral Lipid Storage Disease without Ichthyosis|NLSDM Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Neutropenia MESH:D009503 DO:DOID:1227 A decrease in the number of NEUTROPHILS found in the blood. MESH:D000380 C15.378.553.546.184.564 C15.378.553.546.184 Neutropenias Blood disease Neutropenia and hyperlymphocytosis with large granular lymphocytes MESH:C531649 MESH:D002609 C11.270.040.772/C531649|C15.378.553.774.257/C531649|C16.320.798.375/C531649|C20.673.774.257/C531649|C20.673.795.375/C531649 C11.270.040.772|C15.378.553.774.257|C16.320.798.375|C20.673.774.257|C20.673.795.375 Chediak-Steinbrinck-Higashi, syndrome Blood disease|Eye disease|Genetic disease (inborn)|Immune system disease Neutropenia, Lethal Congenital, with Eosinophilia MESH:C564943 MESH:D004802|MESH:D009503 C15.378.553.231/C564943|C15.378.553.546.184.564/C564943 C15.378.553.231|C15.378.553.546.184.564 Blood disease Neutropenia, Nonimmune Chronic Idiopathic, Adult MESH:C564320 OMIM:607847 MESH:D009503|MESH:D030342 C15.378.553.546.184.564/C564320|C16.320/C564320 C15.378.553.546.184.564|C16.320 NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS|NI-CINA|Nonimmune Chronic Idiopathic Neutropenia of Adults Blood disease|Genetic disease (inborn) Neutropenia, severe chronic MESH:C535815 MESH:D009503 C15.378.553.546.184.564/C535815 C15.378.553.546.184.564 Leukopenia, benign familial|Neutropenia, chronic familial Blood disease NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE OMIM:615285 DO:DOID:0112132 MESH:D009503 C15.378.553.546.184.564/615285 C15.378.553.546.184.564 SCN5 Blood disease NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE OMIM:616022 DO:DOID:0112134 MESH:D009503 C15.378.553.546.184.564/616022 C15.378.553.546.184.564 SCN6 Blood disease NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE OMIM:617014 DO:DOID:0112129 MESH:D009503 C15.378.553.546.184.564/617014 C15.378.553.546.184.564 SCN7 Blood disease Neutropenia, Severe Congenital, Autosomal Dominant 1 MESH:C565969 OMIM:202700 MESH:D009503 C15.378.553.546.184.564/C565969 C15.378.553.546.184.564 NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT|SCN1 Blood disease Neutropenia, Severe Congenital, Autosomal Dominant 2 MESH:C567748 OMIM:613107 MESH:D009503 C15.378.553.546.184.564/C567748 C15.378.553.546.184.564 NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT|SCN2|Severe Congenital Neutropenia-2 Blood disease Neutropenia, Severe Congenital, Autosomal Recessive 3 MESH:C537592 OMIM:610738 MESH:D000080984|MESH:D009503 C15.378.190.223.500/C537592|C15.378.553.546.184.564/C537592|C16.614.183/C537592 C15.378.190.223.500|C15.378.553.546.184.564|C16.614.183 Agranulocytosis, Infantile|Agranulocytosis, infantile genetic|Autosomal dominant or sporadic congenital neutropenia|Congenital Agranulocytosis|Congenital Neutropenia|Infantile genetic agranulocytosis|Kostmann disease|Kostmann's Agranulocytosis|Kostmann's Syndrome|Kostmann syndrome|NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE|SCN3|Severe congenital neutropenia|Severe Infantile Genetic Neutropenia Blood disease|Infant-newborn disease Neutropenia, Severe Congenital, Autosomal Recessive 4 MESH:C567260 OMIM:612541 MESH:D009503 C15.378.553.546.184.564/C567260 C15.378.553.546.184.564 Dursun Syndrome|DURSUN SYNDROME, INCLUDED|NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE|Pulmonary Arterial Hypertension, Leukopenia, And Atrial Septal Defect|PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT, INCLUDED|Scn4 Blood disease Neutropenia, Severe Congenital, X-Linked MESH:C564539 DO:DOID:0112128|OMIM:300299 MESH:D009503|MESH:D040181 C15.378.553.546.184.564/C564539|C16.320.322/C564539 C15.378.553.546.184.564|C16.320.322 SCNX|XLN Blood disease|Genetic disease (inborn) Neutrophil Actin Dysfunction MESH:C564942 MESH:D007960 C15.378.553/C564942 C15.378.553 Blood disease Neutrophil Chemotactic Response, Abnormal MESH:C563515 MESH:D007154|MESH:D007960 C15.378.553/C563515|C20/C563515 C15.378.553|C20 Leukocyte Motility, Abnormal|Neutrophil Migration, Abnormal|Neutrophil Motility, Abnormal Blood disease|Immune system disease Neutrophilia, Hereditary MESH:C563010 DO:DOID:0090120|OMIM:162830 MESH:D007960 C15.378.553/C563010 C15.378.553 Blood disease Neutrophil Immunodeficiency Syndrome MESH:C564275 DO:DOID:0112064|OMIM:608203 MESH:D000081207 C16.320.798/C564275|C20.673.795/C564275 C16.320.798|C20.673.795 IMD73A|IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS|NEUTROPHIL IMMUNODEFICIENCY SYNDROME Genetic disease (inborn)|Immune system disease Nevi and Melanomas MESH:D018326 A collective term for the various types of nevi and melanomas. MESH:D009370 C04.557.665 C04.557 Melanomas and Nevi Cancer Nevi flammei, familial multiple MESH:C535816 DO:DOID:0111529 MESH:D019339 C16.131.831.675/C535816|C17.800.804.675/C535816 C16.131.831.675|C17.800.804.675 Port-wine stain familial multiple Congenital abnormality|Skin disease Nevo syndrome MESH:C536113 MESH:D058495 C16.131.077.889/C536113|C16.131.260.905/C536113|C16.320.180.905/C536113 C16.131.077.889|C16.131.260.905|C16.320.180.905 Cerebral gigantism nevo type Congenital abnormality|Genetic disease (inborn) Nevus MESH:D009506 A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin. MESH:D018326 C04.557.665.560 C04.557.665 Mole, Skin|Moles, Skin|Nevi|Skin Mole|Skin Moles Cancer Nevus, Blue MESH:D018329 Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP. MESH:D009508 C04.557.665.560.615.550 C04.557.665.560.615 Blue Nevi|Blue Nevi, Cellular|Blue Nevus|Blue Nevus, Cellular|Cellular Blue Nevi|Cellular Blue Nevus|Nevi, Blue|Nevi, Cellular Blue|Nevus, Cellular Blue Cancer NEVUS COMEDONICUS OMIM:617025 MESH:D009506 C04.557.665.560/617025 C04.557.665.560 NC Cancer Nevus, Epithelioid and Spindle Cell MESH:D018332 A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed) MESH:D018331 C04.557.665.560.615.625.585 C04.557.665.560.615.625 Nevus, Spindle Cell and Epithelioid|Nevus, Spitz|Spitz Nevus Cancer Nevus Flammeus of Nape of Neck MESH:C567524 MESH:D019339 C16.131.831.675/C567524|C17.800.804.675/C567524 C16.131.831.675|C17.800.804.675 Erythema Nuchae|Unna Nevus Congenital abnormality|Skin disease Nevus, Halo MESH:D055882 A benign skin lesion characterized by a zone of depigmentation surrounding the nevus. MESH:D009506 C04.557.665.560.580 C04.557.665.560 Halo Nevi|Halo Nevus|Leukoderma Acquisitum Centrifugum of Sutton|Nevi, Halo Cancer Nevus, Intradermal MESH:D018330 A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed) MESH:D009506 C04.557.665.560.590 C04.557.665.560 Intradermal Nevi|Intradermal Nevus|Nevi, Intradermal Cancer Nevus of Ota MESH:D009507 A macular lesion on the side of the FACE, involving the CONJUNCTIVA and EYELIDS, as well as the adjacent facial skin, SCLERA; OCULOMOTOR MUSCLES; and PERIOSTEUM. Histological features vary from those of a MONGOLIAN SPOT to those of a BLUE NEVUS. MESH:D009508 C04.557.665.560.615.585 C04.557.665.560.615 Nevus, Ota's|Ota Nevus|Ota's Nevus|Otas Nevus Cancer Nevus, Pigmented MESH:D009508 A nevus containing melanin. The term is usually restricted to nevocytic nevi (round or oval collections of melanin-containing nevus cells occurring at the dermoepidermal junction of the skin or in the dermis proper) or moles, but may be applied to other pigmented nevi. MESH:D009506 C04.557.665.560.615 C04.557.665.560 Melanocytic Nevi|Melanocytic Nevus|Nevi, Melanocytic|Nevi, Pigmented|Nevus, Melanocytic|Pigmented Moles|Pigmented Nevi|Pigmented Nevus Cancer Nevus, Sebaceous of Jadassohn MESH:D054000 OMIM:163200 A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities. MESH:D000015|MESH:D009506|MESH:D020752 C04.557.665.560.700|C10.562.700|C16.131.077.633 C04.557.665.560|C10.562|C16.131.077 EPIDERMAL NEVUS SYNDROME, FORMERLY|Epidermal Nevus, Verrucous|Feuerstein Mims Syndrome|Feuerstein-Mims Syndrome|Inflammatory Linear Verrucose Epidermal Nevus|Inflammatory Linear Verrucous Epidermal Naevus|Jadassohn Nevus Phakomatosis|Jadassohn Nevus Sebaceus|Jadassohn Sebaceous Nevus|JNP|Linear Sebaceous Nevus|Linear Sebaceous Nevus Syndrome|Linear Verrucous Epidermal Nevus|Nevus, Linear Sebaceous|Nevus Phakomatoses, Organoid|Nevus Phakomatosis, Jadassohn|Nevus Phakomatosis, Organoid|Nevus Sebaceus of Jadassohn|Nevus, Verrucous|Nevus, Verrucous Epidermal|Organoid Nevus Phakomatoses|Organoid Nevus Phakomatosis|Phakomatoses, Organoid Nevus|Phakomatosis, Jadassohn Nevus|Phakomatosis, Organoid Nevus|Schimmelpenning Feuerstein Mims Syndrome|Schimmelpenning-Feuerstein-Mims Syndrome|Schimmelpenning Syndrome|Sebaceous Nevus, Linear|Sebaceous Nevus of Jadassohn|Sebaceous Nevus Syndrome, Linear|SFM|SFM SYNDROME|Syndrome, Feuerstein-Mims|Syndrome, Schimmelpenning|Syndrome, Schimmelpenning-Feuerstein-Mims|Verrucous Epidermal Nevus|Verrucous Nevus Cancer|Congenital abnormality|Nervous system disease Nevus, Spindle Cell MESH:D018331 A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185) MESH:D009508 C04.557.665.560.615.625 C04.557.665.560.615 Nevi, Spindle Cell|Spindle Cell Nevi|Spindle Cell Nevus Cancer Newcastle Disease MESH:D009521 DO:DOID:2929 An acute febrile, contagious, viral disease of birds caused by an AVULAVIRUS called NEWCASTLE DISEASE VIRUS. It is characterized by respiratory and nervous symptoms in fowl and is transmissible to man causing a severe, but transient conjunctivitis. MESH:D001715|MESH:D045463 C01.925.782.580.600.080.600|C22.131.630 C01.925.782.580.600.080|C22.131 Disease, Newcastle Animal disease|Viral disease Newfoundland Rod-Cone Dystrophy MESH:C564391 OMIM:607476 MESH:D012174 C11.270.684/C564391|C11.768.585.658.500/C564391|C16.320.290.684/C564391 C11.270.684|C11.768.585.658.500|C16.320.290.684 NFRCD Eye disease|Genetic disease (inborn) NF1 Microdeletion Syndrome MESH:C563524 DO:DOID:0060403 MESH:D002872|MESH:D007859|MESH:D008607|MESH:D017253|MESH:D019465 C04.557.580.600.580.590/C563524|C04.700.631/C563524|C05.660.207/C563524|C10.562.600/C563524|C10.574.500.549/C563524|C10.597.606.150.550/C563524|C10.597.606.360/C563524|C16.131.621.207/C563524|C16.320.400.560/C563524|C16.320.700.633/C563524|C23.550.210.050.500.500/C563524|C23.888.592.604.150.550/C563524|C23.888.592.604.646/C563524|F03.625.539/C563524|F03.625.562/C563524 C04.557.580.600.580.590|C04.700.631|C05.660.207|C10.562.600|C10.574.500.549|C10.597.606.150.550|C10.597.606.360|C16.131.621.207|C16.320.400.560|C16.320.700.633|C23.550.210.050.500.500|C23.888.592.604.150.550|C23.888.592.604.646|F03.625.539|F03.625.562 Cancer|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms NF1 Microduplication Syndrome MESH:C567173 MESH:D008607|MESH:D017253|MESH:D019066|MESH:D025063|MESH:D058674 C04.557.580.600.580.590/C567173|C04.700.631/C567173|C10.562.600/C567173|C10.574.500.549/C567173|C10.597.606.360/C567173|C16.131.260/C567173|C16.320.180/C567173|C16.320.400.560/C567173|C16.320.700.633/C567173|C23.550.210.182/C567173|C23.550.291.812/C567173|C23.888.592.604.646/C567173|F03.625.539/C567173 C04.557.580.600.580.590|C04.700.631|C10.562.600|C10.574.500.549|C10.597.606.360|C16.131.260|C16.320.180|C16.320.400.560|C16.320.700.633|C23.550.210.182|C23.550.291.812|C23.888.592.604.646|F03.625.539 Cancer|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms NGLY1 deficiency MESH:C000626124 DO:DOID:0060728 MESH:D018981 C16.320.565.202.125/C000626124|C18.452.648.202.125/C000626124 C16.320.565.202.125|C18.452.648.202.125 Alacrimia-choreoathetosis-liver dysfunction syndrome|Congenital disorder of deglycosylation|Congenital disorder of glycosylation, type Iv Genetic disease (inborn)|Metabolic disease Nguyen syndrome MESH:C536115 MESH:D006995 C16.320.565.398.500.440/C536115|C18.452.584.500.875.440/C536115|C18.452.584.563.500.440/C536115|C18.452.648.398.500.440/C536115 C16.320.565.398.500.440|C18.452.584.500.875.440|C18.452.584.563.500.440|C18.452.648.398.500.440 Genetic disease (inborn)|Metabolic disease Nicolaides Baraitser syndrome MESH:C536116 OMIM:601358 MESH:D005532|MESH:D007039|MESH:D008607|MESH:D019066 C05.330.495/C536116|C05.660.585.512.380/C536116|C10.597.606.360/C536116|C16.131.621.585.512.500/C536116|C17.800.329.937/C536116|C23.550.291.812/C536116|C23.888.592.604.646/C536116|F03.625.539/C536116 C05.330.495|C05.660.585.512.380|C10.597.606.360|C16.131.621.585.512.500|C17.800.329.937|C23.550.291.812|C23.888.592.604.646|F03.625.539 NBS|NCBRS|Nicolaides-Baraitser Syndrome|Sparse hair and mental retardation|SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Nicolau Syndrome MESH:D065148 An uncommon complication of INTRAMUSCULAR INJECTION leading to variable degrees of necrosis of skin and underlying tissue. MESH:D003875 C17.800.174.600.693|C25.100.468.380.693 C17.800.174.600|C25.100.468.380 Cutis Medicamentosa, Embolia|Dermatitides, Livedo-like|Dermatitis, Livedo-like|Dermatitis, Nicolau Livedoid|Embolia Cutis Medicamentosa|Livedoid Dermatitis, Nicolau|Livedoid Syndrome, Nicolau's|Livedo-like Dermatitides|Livedo like Dermatitis|Livedo-like Dermatitis|Medicamentosa, Embolia Cutis|Nicolau Livedoid Dermatitis|Nicolau Livedoid Syndrome|Nicolau's Livedoid Syndrome|Nicolaus Livedoid Syndrome|Nicolau's Syndrome|Nicolaus Syndrome|Syndrome, Nicolau|Syndrome, Nicolau's|Syndrome, Nicolau's Livedoid Skin disease Nidovirales Infections MESH:D030341 Infections with viruses of the order NIDOVIRALES. The concept includes ARTERIVIRUS INFECTIONS and CORONAVIRIDAE INFECTIONS. MESH:D012327 C01.925.782.600 C01.925.782 Viral disease Niemann-Pick Disease, Intermediate, Protracted Neurovisceral MESH:C567268 MESH:D009542 C10.228.140.163.100.435.825.700/C567268|C15.604.250.410.625/C567268|C16.320.565.189.435.825.700/C567268|C16.320.565.398.641.803.730/C567268|C16.320.565.595.554.825.700/C567268|C18.452.132.100.435.825.700/C567268|C18.452.584.563.641.803.730/C567268|C18.452.648.189.435.825.700/C567268|C18.452.648.398.641.803.730/C567268|C18.452.648.595.554.825.700/C567268 C10.228.140.163.100.435.825.700|C15.604.250.410.625|C16.320.565.189.435.825.700|C16.320.565.398.641.803.730|C16.320.565.595.554.825.700|C18.452.132.100.435.825.700|C18.452.584.563.641.803.730|C18.452.648.189.435.825.700|C18.452.648.398.641.803.730|C18.452.648.595.554.825.700 Genetic disease (inborn)|Lymphatic disease|Metabolic disease|Nervous system disease Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression MESH:C567267 MESH:D009542 C10.228.140.163.100.435.825.700/C567267|C15.604.250.410.625/C567267|C16.320.565.189.435.825.700/C567267|C16.320.565.398.641.803.730/C567267|C16.320.565.595.554.825.700/C567267|C18.452.132.100.435.825.700/C567267|C18.452.584.563.641.803.730/C567267|C18.452.648.189.435.825.700/C567267|C18.452.648.398.641.803.730/C567267|C18.452.648.595.554.825.700/C567267 C10.228.140.163.100.435.825.700|C15.604.250.410.625|C16.320.565.189.435.825.700|C16.320.565.398.641.803.730|C16.320.565.595.554.825.700|C18.452.132.100.435.825.700|C18.452.584.563.641.803.730|C18.452.648.189.435.825.700|C18.452.648.398.641.803.730|C18.452.648.595.554.825.700 Genetic disease (inborn)|Lymphatic disease|Metabolic disease|Nervous system disease Niemann-Pick Disease, Nova Scotian Type MESH:C564941 MESH:D052556 C10.228.140.163.100.435.825.700.875/C564941|C15.604.250.410.625.875/C564941|C16.320.565.189.435.825.700.875/C564941|C16.320.565.398.641.803.730.875/C564941|C16.320.565.595.554.825.700.875/C564941|C18.452.132.100.435.825.700.875/C564941|C18.452.584.563.641.803.730.875/C564941|C18.452.648.189.435.825.700.875/C564941|C18.452.648.398.641.803.730.875/C564941|C18.452.648.595.554.825.700.875/C564941 C10.228.140.163.100.435.825.700.875|C15.604.250.410.625.875|C16.320.565.189.435.825.700.875|C16.320.565.398.641.803.730.875|C16.320.565.595.554.825.700.875|C18.452.132.100.435.825.700.875|C18.452.584.563.641.803.730.875|C18.452.648.189.435.825.700.875|C18.452.648.398.641.803.730.875|C18.452.648.595.554.825.700.875 Genetic disease (inborn)|Lymphatic disease|Metabolic disease|Nervous system disease Niemann-Pick Diseases MESH:D009542 DO:DOID:14504 A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences. MESH:D013106|MESH:D015616 C10.228.140.163.100.435.825.700|C15.604.250.410.625|C16.320.565.189.435.825.700|C16.320.565.398.641.803.730|C16.320.565.595.554.825.700|C18.452.132.100.435.825.700|C18.452.584.563.641.803.730|C18.452.648.189.435.825.700|C18.452.648.398.641.803.730|C18.452.648.595.554.825.700 C10.228.140.163.100.435.825|C15.604.250.410|C16.320.565.189.435.825|C16.320.565.398.641.803|C16.320.565.595.554.825|C18.452.132.100.435.825|C18.452.584.563.641.803|C18.452.648.189.435.825|C18.452.648.398.641.803|C18.452.648.595.554.825 Niemann Pick Disease|Niemann-Pick Disease|Niemann Pick Diseases Genetic disease (inborn)|Lymphatic disease|Metabolic disease|Nervous system disease Niemann-Pick Disease, Type A MESH:D052536 OMIM:257200 The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage. MESH:D009542 C10.228.140.163.100.435.825.700.500|C15.604.250.410.625.500|C16.320.565.189.435.825.700.500|C16.320.565.398.641.803.730.500|C16.320.565.595.554.825.700.500|C18.452.132.100.435.825.700.500|C18.452.584.563.641.803.730.500|C18.452.648.189.435.825.700.500|C18.452.648.398.641.803.730.500|C18.452.648.595.554.825.700.500 C10.228.140.163.100.435.825.700|C15.604.250.410.625|C16.320.565.189.435.825.700|C16.320.565.398.641.803.730|C16.320.565.595.554.825.700|C18.452.132.100.435.825.700|C18.452.584.563.641.803.730|C18.452.648.189.435.825.700|C18.452.648.398.641.803.730|C18.452.648.595.554.825.700 ACID SPHINGOMYELINASE DEFICIENCY, NEUROVISCERAL TYPE|ASMD, NEUROVISCERAL TYPE NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED|Cholesterol Lipidoses, Neuronal|Cholesterol Lipidoses, Sphingomyelin|Cholesterol Lipidosis, Neuronal|Cholesterol Lipidosis, Sphingomyelin|Classical Niemann Pick Disease|Classical Niemann-Pick Disease|Deficiencies, Sphingomyelinase|Deficiency, Sphingomyelinase|Lipidoses, Neuronal Cholesterol|Lipidoses, Sphingomyelin|Lipidoses, Sphingomyelin Cholesterol|Lipidosis, Neuronal Cholesterol|Lipidosis, Sphingomyelin|Lipidosis, Sphingomyelin Cholesterol|Neuronal Cholesterol Lipidoses|Neuronal Cholesterol Lipidosis|Niemann Pick Disease, Acute Neuronopathic Form|Niemann-Pick Disease, Acute Neuronopathic Form|Niemann Pick Disease, Acute Neurovisceral Form|Niemann-Pick Disease, Acute Neurovisceral Form|Niemann-Pick Disease, Classical|Niemann Pick Disease, Neuronopathic Type|Niemann-Pick Disease, Neuronopathic Type|Niemann Pick Disease, Type A|Niemann Pick's Disease Type A|Niemann-Pick's Disease Type A|Ophthalmoplegias, Supraoptic Vertical|Ophthalmoplegia, Supraoptic Vertical|Sphingomyelinase Deficiencies|Sphingomyelinase Deficiency|Sphingomyelinase Deficiency Disease|Sphingomyelinase Deficiency Diseases|Sphingomyelin Cholesterol Lipidoses|Sphingomyelin Cholesterol Lipidosis|Sphingomyelin Lipidoses|Sphingomyelin Lipidosis|Supraoptic Vertical Ophthalmoplegia|Supraoptic Vertical Ophthalmoplegias|Type A Niemann Pick Disease|Type A Niemann-Pick Disease|Vertical Ophthalmoplegias, Supraoptic|Vertical Ophthalmoplegia, Supraoptic Genetic disease (inborn)|Lymphatic disease|Metabolic disease|Nervous system disease Niemann-Pick Disease, Type B MESH:D052537 OMIM:607616 An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type). MESH:D009542 C10.228.140.163.100.435.825.700.750|C15.604.250.410.625.750|C16.320.565.189.435.825.700.750|C16.320.565.398.641.803.730.750|C16.320.565.595.554.825.700.750|C18.452.132.100.435.825.700.750|C18.452.584.563.641.803.730.750|C18.452.648.189.435.825.700.750|C18.452.648.398.641.803.730.750|C18.452.648.595.554.825.700.750 C10.228.140.163.100.435.825.700|C15.604.250.410.625|C16.320.565.189.435.825.700|C16.320.565.398.641.803.730|C16.320.565.595.554.825.700|C18.452.132.100.435.825.700|C18.452.584.563.641.803.730|C18.452.648.189.435.825.700|C18.452.648.398.641.803.730|C18.452.648.595.554.825.700 ACID SPHINGOMYELINASE DEFICIENCY, VISCERAL TYPE|ASMD, VISCERAL TYPE NIEMANN-PICK DISEASE, TYPE E, INCLUDED|Niemann Pick Disease, Adult Non Neuronopathic|Niemann-Pick Disease, Adult Non-Neuronopathic|NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION, INCLUDED|Niemann Pick Disease, Non Neuronopathic Type|Niemann-Pick Disease, Non-Neuronopathic Type|Niemann Pick Disease, Type B|Niemann Pick Disease, Type E|Niemann-Pick Disease, Type E|NIEMANN-PICK DISEASE, TYPE F, INCLUDED|Niemann Pick Disease, Visceral|Niemann-Pick Disease, Visceral|Niemann Pick's Disease Type B|Niemann-Pick's Disease Type B|Niemann Pick's Disease Type E|Niemann-Pick's Disease Type E|Type B Niemann Pick Disease|Type B Niemann-Pick Disease Genetic disease (inborn)|Lymphatic disease|Metabolic disease|Nervous system disease Niemann-Pick Disease, Type C MESH:D052556 OMIM:257220 An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry. MESH:D009542 C10.228.140.163.100.435.825.700.875|C15.604.250.410.625.875|C16.320.565.189.435.825.700.875|C16.320.565.398.641.803.730.875|C16.320.565.595.554.825.700.875|C18.452.132.100.435.825.700.875|C18.452.584.563.641.803.730.875|C18.452.648.189.435.825.700.875|C18.452.648.398.641.803.730.875|C18.452.648.595.554.825.700.875 C10.228.140.163.100.435.825.700|C15.604.250.410.625|C16.320.565.189.435.825.700|C16.320.565.398.641.803.730|C16.320.565.595.554.825.700|C18.452.132.100.435.825.700|C18.452.584.563.641.803.730|C18.452.648.189.435.825.700|C18.452.648.398.641.803.730|C18.452.648.595.554.825.700 Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia|NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D, INCLUDED|Niemann Pick Disease, Chronic Neuronopathic Form|Niemann-Pick Disease, Chronic Neuronopathic Form|Niemann Pick Disease, Nova Scotian|Niemann-Pick Disease, Nova Scotian|NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE, INCLUDED|Niemann Pick disease, Subacute Juvenile Form|Niemann-Pick disease, Subacute Juvenile Form|Niemann Pick Disease Type C|Niemann Pick Disease, Type C|Niemann-Pick Disease Type C|NIEMANN-PICK DISEASE, TYPE C|Niemann Pick Disease, Type C1|Niemann-Pick Disease, Type C1|Niemann Pick Disease Type D|Niemann Pick Disease, Type D|Niemann-Pick Disease Type D|Niemann-Pick Disease, Type D|Niemann Pick Disease with Cholesterol Esterification Block|Niemann-Pick Disease with Cholesterol Esterification Block|Niemann Pick Disease without Sphingomyelinase Deficiency|Niemann-Pick Disease without Sphingomyelinase Deficiency|Niemann Pick's Disease Type C|Niemann-Pick's Disease Type C|Niemann Pick's Disease Type D|Niemann-Pick's Disease Type D|Niemann Pick Type C Disease|Niemann-Pick Type C Disease|Niemann Pick Type D Disease|Niemann-Pick Type D Disease|Nova Scotia Niemann Pick Disease (Type D)|Nova Scotia Niemann-Pick Disease (Type D)|Nova Scotia (Type D) Form of Niemann-Pick Disease|NPC|NPC1 Genetic disease (inborn)|Lymphatic disease|Metabolic disease|Nervous system disease Niemann-Pick disease, type C2 MESH:C536119 OMIM:607625 MESH:D052556 C10.228.140.163.100.435.825.700.875/C536119|C15.604.250.410.625.875/C536119|C16.320.565.189.435.825.700.875/C536119|C16.320.565.398.641.803.730.875/C536119|C16.320.565.595.554.825.700.875/C536119|C18.452.132.100.435.825.700.875/C536119|C18.452.584.563.641.803.730.875/C536119|C18.452.648.189.435.825.700.875/C536119|C18.452.648.398.641.803.730.875/C536119|C18.452.648.595.554.825.700.875/C536119 C10.228.140.163.100.435.825.700.875|C15.604.250.410.625.875|C16.320.565.189.435.825.700.875|C16.320.565.398.641.803.730.875|C16.320.565.595.554.825.700.875|C18.452.132.100.435.825.700.875|C18.452.584.563.641.803.730.875|C18.452.648.189.435.825.700.875|C18.452.648.398.641.803.730.875|C18.452.648.595.554.825.700.875 NPC2 Genetic disease (inborn)|Lymphatic disease|Metabolic disease|Nervous system disease Niemann-Pick Disease, Type F MESH:C564366 MESH:D009542 C10.228.140.163.100.435.825.700/C564366|C15.604.250.410.625/C564366|C16.320.565.189.435.825.700/C564366|C16.320.565.398.641.803.730/C564366|C16.320.565.595.554.825.700/C564366|C18.452.132.100.435.825.700/C564366|C18.452.584.563.641.803.730/C564366|C18.452.648.189.435.825.700/C564366|C18.452.648.398.641.803.730/C564366|C18.452.648.595.554.825.700/C564366 C10.228.140.163.100.435.825.700|C15.604.250.410.625|C16.320.565.189.435.825.700|C16.320.565.398.641.803.730|C16.320.565.595.554.825.700|C18.452.132.100.435.825.700|C18.452.584.563.641.803.730|C18.452.648.189.435.825.700|C18.452.648.398.641.803.730|C18.452.648.595.554.825.700 Genetic disease (inborn)|Lymphatic disease|Metabolic disease|Nervous system disease Nievergelt syndrome MESH:C536120 MESH:D004392|MESH:D010009|MESH:D017880 C05.116.099.343/C536120|C05.116.099.708/C536120|C05.660.585/C536120|C16.131.621.585/C536120|C16.320.240/C536120|C16.320.728/C536120|C19.297/C536120 C05.116.099.343|C05.116.099.708|C05.660.585|C16.131.621.585|C16.320.240|C16.320.728|C19.297 Mesomelic dwarfism Nievergelt type|Mesomelic Dysplasia, Nievergelt Type Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Night Blindness MESH:D009755 DO:DOID:8499 Failure or imperfection of vision at night or in dim light, with good vision only on bright days. (Dorland, 27th ed) MESH:D014786 C11.966.671 C11.966 Blindness, Night|Nyctalopia Eye disease Night blindness, congenital stationary MESH:C536122 OMIM:257270|OMIM:300071|OMIM:310500|OMIM:613216|OMIM:613830|OMIM:614565|OMIM:615058|OMIM:616389|OMIM:617024 MESH:D009216|MESH:D009755|MESH:D015785|MESH:D040181 C11.270/C536122|C11.744.636/C536122|C11.966.671/C536122|C16.320.290/C536122|C16.320.322/C536122 C11.270|C11.744.636|C11.966.671|C16.320.290|C16.320.322 Cone-rod synaptic disorder, congenital nonprogressive|Congenital stationary night blindness|CRSD|CSNB1A|CSNB1B|CSNB1C|CSNB1D|CSNB1E|CSNB1F|CSNB1G|CSNB1H|CSNB2|CSNB2A|CSNB2B|CSNB, COMPLETE, AUTOSOMAL RECESSIVE|CSNB, Complete, X-Linked|CSNB, Incomplete, Autosomal Recessive|CSNB, Incomplete, X-Linked|Hemeralopia-myopia|Myopia-night blindness|MYOPIA-NIGHT BLINDNESS;NBM1 NYCTALOPIA, INCLUDED|Night Blindness, Congenital Stationary, Complete, Autosomal Recessive|Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive|Night blindness, congenital stationary, type 1|Night Blindness, Congenital Stationary, Type 1A|Night Blindness, Congenital Stationary, Type 1B|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H|Night Blindness, Congenital Stationary, Type 2|Night Blindness, Congenital Stationary, Type 2A|Night Blindness, Congenital Stationary, Type 2B|Night blindness, congenital stationary, with myopia|Xlcsnb|X-linked congenital stationary night blindness|X-Linked Csnb Eye disease|Genetic disease (inborn) Night Blindness, Congenital Stationary, Autosomal Dominant 1 MESH:C566474 OMIM:610445 MESH:D009755|MESH:D015785 C11.270/C566474|C11.966.671/C566474|C16.320.290/C566474 C11.270|C11.966.671|C16.320.290 CSNBAD1|Night Blindness, Congenital Stationary, Rhodopsin-Related Eye disease|Genetic disease (inborn) Night Blindness, Congenital Stationary, Autosomal Dominant 2 MESH:C566869 OMIM:163500 MESH:D009755|MESH:D015785 C11.270/C566869|C11.966.671/C566869|C16.320.290/C566869 C11.270|C11.966.671|C16.320.290 CSNBAD2|Night Blindness, Congenital Stationary, Rambusch Type Eye disease|Genetic disease (inborn) Night Blindness, Congenital Stationary, Autosomal Dominant 3 MESH:C566475 OMIM:610444 MESH:D009755|MESH:D015785 C11.270/C566475|C11.966.671/C566475|C16.320.290/C566475 C11.270|C11.966.671|C16.320.290 CSNBAD3|Night Blindness, Congenital Stationary, Nougaret Type Eye disease|Genetic disease (inborn) Night blindness skeletal anomalies unusual facies MESH:C536121 MESH:D009216|MESH:D009755|MESH:D019066 C11.744.636/C536121|C11.966.671/C536121|C23.550.291.812/C536121 C11.744.636|C11.966.671|C23.550.291.812 Hunter Thomson Reed syndrome Eye disease|Pathology (process) Night Eating Syndrome MESH:D000074043 Little or no appetite for breakfast due to eating more food after dinner than during the meal and eating more than half of daily food intake after dinner hour. MESH:D001068 F03.400.844 F03.400 Eating Syndrome, Night|Eating Syndromes, Night|Night Eating Syndromes Mental disorder Night Terrors MESH:D020184 A disorder characterized by incomplete arousals from sleep associated with behavior suggesting extreme fright. This condition primarily affects children and young adults and the individual generally has no recall of the event. Episodes tend to occur during stage III or IV. SOMNAMBULISM is frequently associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p391) MESH:D020921 C10.886.659.635.600|F03.870.664.635.600 C10.886.659.635|F03.870.664.635 Adult Night Terror|Adult Night Terrors|Adult Pavor Nocturnus|Childhood Night Terror|Childhood Night Terrors|Childhood Pavor Nocturnus|Night Terror, Adult|Night Terror, Childhood|Night Terror, Primary|Night Terrors, Adult|Night Terrors, Childhood|Night Terror, Secondary|Night Terrors, Primary|Night Terrors, Secondary|Nocturnus, Adult Pavor|Nocturnus, Childhood Pavor|Pavor Nocturnus|Pavor Nocturnus, Adult|Pavor Nocturnus, Childhood|Primary Night Terror|Primary Night Terrors|Secondary Night Terror|Secondary Night Terrors|Sleep Terror|Sleep Terror Disorder|Sleep Terrors|Terror, Adult Night|Terror, Childhood Night|Terror, Primary Night|Terrors, Adult Night|Terrors, Childhood Night|Terror, Secondary Night|Terror, Sleep|Terrors, Primary Night|Terrors, Secondary Night|Terrors, Sleep Mental disorder|Nervous system disease nigropallidal encephalomalacia MESH:C000729170 MESH:D006734 C22.488/C000729170 C22.488 Animal disease Nijmegen Breakage Syndrome MESH:D049932 DO:DOID:7400|OMIM:251260 A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION. MESH:D049914 C18.452.284.600 C18.452.284 Ataxia Telangiectasia Variant 1|Ataxia-Telangiectasia Variant 1|Ataxia-Telangiectasia Variant 1s|Ataxia Telangiectasia Variant V1|Ataxia-Telangiectasia Variant V1|Ataxia-Telangiectasia Variant V1s|ATAXIA-TELANGIECTASIA VARIANT V2, INCLUDED|At-V1|AT-V2, INCLUDED|BBS, INCLUDED|Berlin Breakage Syndrome|Breakage Syndrome, Berlin|Breakage Syndrome, Nijmegen|Immunodeficiency, Microcephaly, And Chromosomal Instability|IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY BERLIN BREAKAGE SYNDROME, INCLUDED|Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies|NBS|Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence|Seemanova Syndrome 2|Seemanova Syndrome II|Syndrome, Berlin Breakage|Syndrome, Nijmegen Breakage|Variant 1s, Ataxia-Telangiectasia|Variant V1, Ataxia-Telangiectasia|Variant V1s, Ataxia-Telangiectasia Metabolic disease Nijmegen Breakage Syndrome-Like Disorder MESH:C567767 OMIM:613078 MESH:D006130|MESH:D008831|MESH:D049914 C05.660.207.620/C567767|C10.500.507.400.500/C567767|C16.131.621.207.620/C567767|C16.131.666.507.400.500/C567767|C18.452.284/C567767|C23.550.393/C567767 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C18.452.284|C23.550.393 Microcephaly and Spontaneous Chromosome Instability without Immunodeficiency|NBSLD|NBS-LIKE DISORDER|RAD50 Deficiency Congenital abnormality|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process) Nivelon Nivelon Mabille syndrome MESH:C536123 DO:DOID:0060644 MESH:D010009|MESH:D058490 C05.116.099.708/C536123|C12.050.351.875.253.096/C536123|C12.200.706.316.096/C536123|C12.800.316.096/C536123|C16.131.939.316.096/C536123|C16.320.728/C536123|C19.391.119.096/C536123 C05.116.099.708|C12.050.351.875.253.096|C12.200.706.316.096|C12.800.316.096|C16.131.939.316.096|C16.320.728|C19.391.119.096 Chondrodysplasia pseudohermaphrodism syndrome|Chondrodysplasia-pseudohermaphroditism syndrome|Pseudohermaphrodism and chondrodysplasia Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Noble Bass Sherman syndrome MESH:C536124 MESH:D004479|MESH:D009216|MESH:D012162|MESH:D015862 C11.250.300/C536124|C11.270.612/C536124|C11.510.598.373/C536124|C11.744.636/C536124|C11.768.585/C536124|C11.941.160/C536124|C16.131.384.405/C536124 C11.250.300|C11.270.612|C11.510.598.373|C11.744.636|C11.768.585|C11.941.160|C16.131.384.405 Ectopia lentis chorioretinal dystrophy myopia Congenital abnormality|Eye disease Nocardia Infections MESH:D009617 DO:DOID:2312 Infections with bacteria of the genus NOCARDIA. MESH:D000193 C01.150.252.410.040.692 C01.150.252.410.040 Cerebral Nocardioses|Cerebral Nocardiosis|Cutaneous Nocardioses, Primary|Cutaneous Nocardiosis, Primary|Infection, Nocardia|Infection, Nocardia asteroides|Infections, Nocardia|Infections, Nocardia asteroides|Nocardia asteroides Infection|Nocardia asteroides Infections|Nocardia Infection|Nocardioses|Nocardioses, Cerebral|Nocardioses, Primary Cutaneous|Nocardioses, Pulmonary|Nocardiosis|Nocardiosis, Cerebral|Nocardiosis, Primary Cutaneous|Nocardiosis, Pulmonary|Primary Cutaneous Nocardioses|Primary Cutaneous Nocardiosis|Pulmonary Nocardioses|Pulmonary Nocardiosis Bacterial infection or mycosis Nociceptive Pain MESH:D059226 Dull or sharp aching pain caused by stimulated NOCICEPTORS due to tissue injury, inflammation or diseases. It can be divided into somatic or tissue pain and VISCERAL PAIN. MESH:D010146 C23.888.592.612.720 C23.888.592.612 Nociceptive Pains|Pain, Nociceptive|Pains, Nociceptive|Pain, Somatic|Pains, Somatic|Pains, Tissue|Pain, Tissue|Somatic Pain|Somatic Pains|Tissue Pain|Tissue Pains Signs and symptoms Nocturia MESH:D053158 Frequent URINATION at night that interrupts sleep. It is often associated with outflow obstruction, DIABETES MELLITUS, or bladder inflammation (CYSTITIS). MESH:D059411 C23.888.942.343.550 C23.888.942.343 Nycturia Signs and symptoms Nocturnal Enuresis MESH:D053206 OMIM:600631 Involuntary discharge of URINE during sleep at night after expected age of completed development of urinary control. MESH:D004775 C12.050.351.968.934.252.500|C12.200.777.934.284.500|C12.950.934.252.500|F03.388.400.500 C12.050.351.968.934.252|C12.200.777.934.284|C12.950.934.252|F03.388.400 Bedwetting|ENUR1|Enuresis, Nocturnal|ENURESIS, NOCTURNAL, 1|Incontinence, Nighttime Urinary|Nighttime Urinary Incontinence|Urinary Incontinence, Nighttime Mental disorder|Urogenital disease (female)|Urogenital disease (male) Nocturnal Myoclonus Syndrome MESH:D020189 DO:DOID:9207 Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387) MESH:D020447|MESH:D020919 C10.886.425.800.600|C10.886.659.618 C10.886.425.800|C10.886.659 Excessive Periodic Sleep Related Leg Movements|Excessive Periodic Sleep-Related Leg Movements|Myoclonus Syndrome, Nocturnal|Myoclonus Syndrome, Sleep|Myoclonus Syndromes, Sleep|Nocturnal Myoclonus Syndromes|Periodic Leg Movements, Excessive, Sleep-Related|Periodic Limb Movement Disorder|Periodic Movement Disorder, Sleep|Sleep Disorder, Periodic Movements|Sleep Myoclonus Syndrome|Sleep Myoclonus Syndromes|Sleep Related Periodic Leg Movements, Excessive|Sleep-Related Periodic Leg Movements, Excessive|Syndrome, Nocturnal Myoclonus|Syndrome, Sleep Myoclonus|Syndromes, Sleep Myoclonus Nervous system disease Nocturnal Paroxysmal Dystonia MESH:D020183 A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391) MESH:D020447 C10.886.659.627|F03.870.664.627 C10.886.659|F03.870.664 Dystonia, Hypnogenic Paroxysmal|Dystonia, Nocturnal Paroxysmal|Dystonia, Nocturnal, Paroxysmal|Dystonias, Hypnogenic Paroxysmal|Dystonia, Sleep-Related|Dystonias, Nocturnal Paroxysmal|Dystonias, Sleep-Related|Hypnogenic Paroxysmal Dystonia|Hypnogenic Paroxysmal Dystonias|Nocturnal Paroxysmal Dystonias|Paroxysmal Dystonia, Hypnogenic|Paroxysmal Dystonia, Nocturnal|Paroxysmal Dystonias, Hypnogenic|Paroxysmal Dystonias, Nocturnal|Sleep Related Dystonia|Sleep-Related Dystonia|Sleep-Related Dystonias Mental disorder|Nervous system disease Nodding Syndrome MESH:D064128 Unexplained neurologic condition characterized by episodes of atonic seizures, convulsions or staring spells with further cognitive decline. MESH:D004829 C10.228.140.490.375.525 C10.228.140.490.375 Nodding Syndromes|Syndrome, Nodding|Syndromes, Nodding Nervous system disease Noduli Cutanei, Multiple, with Urinary Tract Abnormalities MESH:C563512 MESH:D006869|MESH:D012873|MESH:D014564 C12.050.351.875/C563512|C12.050.351.968.419.307/C563512|C12.200.706/C563512|C12.200.777.419.307/C563512|C12.800/C563512|C12.950.419.307/C563512|C16.131.939/C563512|C16.320.850/C563512|C17.800.827/C563512 C12.050.351.875|C12.050.351.968.419.307|C12.200.706|C12.200.777.419.307|C12.800|C12.950.419.307|C16.131.939|C16.320.850|C17.800.827 Congenital abnormality|Genetic disease (inborn)|Skin disease|Urogenital disease (female)|Urogenital disease (male) NOG-Related-Symphalangism Spectrum Disorder MESH:C536943 OMIM:184460|OMIM:186570 MESH:D005532|MESH:D006228|MESH:D013580 C05.116.099.370.894/C536943|C05.330.495/C536943|C05.390.408/C536943|C05.660.585.512.380/C536943|C05.660.585.988.425/C536943|C05.660.906/C536943|C16.131.621.585.512.500/C536943|C16.131.621.585.988.500/C536943|C16.131.621.906/C536943 C05.116.099.370.894|C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C05.660.906|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.131.621.906 Ankylosis Of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, And Syndactyly|Brachydactyly, Type B2|Deafness-symphalangism syndrome of Herrmann|Facioaudiosymphalangism syndrome|Multiple synostoses syndrome 1|Stapes Ankylosis Syndrome Without Symphalangism|Stapes Ankylosis With Broad Thumb And Toes|STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES|Symphalangism-brachydactyly syndrome|Synostoses, multiple, with brachydactyly|SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED|Tarsal carpal coalition syndrome|Tarsal-Carpal Coalition Syndrome|TCC|Teunissen-Cremers Syndrome Congenital abnormality|Musculoskeletal disease Noma MESH:D009625 DO:DOID:9672 A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed) MESH:D009059 C07.465.604 C07.465 Cancrum Oris|Gangrenous Stomatitides|Gangrenous Stomatitis|Nomas|Stomatitides, Gangrenous|Stomatitis, Gangrenous Mouth disease Non-AIDS-related Kaposi sarcoma MESH:C554497 MESH:D012514 C01.925.256.466.860/C554497|C04.557.450.795.850/C554497|C04.557.645.750/C554497 C01.925.256.466.860|C04.557.450.795.850|C04.557.645.750 Cancer|Viral disease Non-alcoholic Fatty Liver Disease MESH:D065626 DO:DOID:0080208|OMIM:613282|OMIM:613387 Fatty liver finding without excessive ALCOHOL CONSUMPTION. MESH:D005234 C06.552.241.519 C06.552.241 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1|FATTY LIVER DISEASE, SUSCEPTIBILITY TO, 1|FATTY LIVER DISEASE, SUSCEPTIBILITY TO, 2|Fatty Liver, Nonalcoholic|Fatty Livers, Nonalcoholic|FLD1|FLD2|LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1|Liver, Nonalcoholic Fatty|Livers, Nonalcoholic Fatty|NAFLD|Nonalcoholic Fatty Liver|Non alcoholic Fatty Liver Disease|Nonalcoholic Fatty Liver Disease|Nonalcoholic Fatty Livers|Nonalcoholic Steatohepatitides|Nonalcoholic Steatohepatitis|Steatohepatitides, Nonalcoholic|Steatohepatitis, Nonalcoholic Digestive system disease NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO OMIM:258660 MESH:D018917 C10.292.700.600/258660|C11.640.643/258660|C14.907.601/258660 C10.292.700.600|C11.640.643|C14.907.601 NAION, SUSCEPTIBILITY TO|OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO Cardiovascular disease|Eye disease|Nervous system disease Noncommunicable Diseases MESH:D000073296 Diseases which are typically non-infectious in origin and do not transmit from an affected individual to others. The four main types of noncommunicable diseases are CARDIOVASCULAR DISEASES (e.g., heart attacks and stroke), CANCER, chronic respiratory diseases (e.g., CHRONIC OBSTRUCTIVE PULMONARY DISEASE and ASTHMA) and DIABETES MELLITUS. MESH:D020969 C23.550.291.898 C23.550.291 Chronic Disease, Non-communicable|Disease, Non-communicable|Non-communicable Chronic Disease|Non communicable Chronic Diseases|Non-communicable Chronic Diseases|Non-communicable Disease|Noncommunicable Disease|Non communicable Diseases|Non-communicable Diseases|Non-infectious Disease|Noninfectious Disease|Non infectious Diseases|Non-infectious Diseases|Noninfectious Diseases Pathology (process) Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 MESH:C565821 MESH:D056830 C14.240.400.660/C565821|C14.280.238.281.500/C565821|C14.280.400.660/C565821|C16.131.077.477/C565821|C16.131.240.400.655/C565821|C16.320.322.370/C565821 C14.240.400.660|C14.280.238.281.500|C14.280.400.660|C16.131.077.477|C16.131.240.400.655|C16.320.322.370 Left Ventricular Noncompaction, Isolated, Autosomal Dominant Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2 MESH:C563712 MESH:D056830 C14.240.400.660/C563712|C14.280.238.281.500/C563712|C14.280.400.660/C563712|C16.131.077.477/C563712|C16.131.240.400.655/C563712|C16.320.322.370/C563712 C14.240.400.660|C14.280.238.281.500|C14.280.400.660|C16.131.077.477|C16.131.240.400.655|C16.320.322.370 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked MESH:C564571 MESH:D056889 C14.240.400.172/C564571|C14.280.400.172/C564571|C16.131.077.121/C564571|C16.131.240.400.172/C564571|C16.320.322.068/C564571|C16.320.565.398.224/C564571|C18.452.584.563.224/C564571|C18.452.648.398.224/C564571 C14.240.400.172|C14.280.400.172|C16.131.077.121|C16.131.240.400.172|C16.320.322.068|C16.320.565.398.224|C18.452.584.563.224|C18.452.648.398.224 Left Ventricular Noncompaction, Isolated, X-Linked Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Metabolic disease Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects MESH:C564690 MESH:D006330 C14.240.400/C564690|C14.280.400/C564690|C16.131.240.400/C564690 C14.240.400|C14.280.400|C16.131.240.400 Left Ventricular Noncompaction, Nonisolated|Left Ventricular Noncompaction with Congenital Heart Defects Cardiovascular disease|Congenital abnormality Nondisjunction, Genetic MESH:D009630 The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none. MESH:D002869 C23.550.210.645 C23.550.210 Genetic Nondisjunction|Genetic Non Disjunction|Genetic Non-Disjunction|Genetic Nondisjunctions|Genetic Non-Disjunctions|Non Disjunction, Genetic|Non-Disjunction, Genetic|Nondisjunctions, Genetic|Non-Disjunctions, Genetic Pathology (process) Nondystrophic myotonia MESH:C536245 MESH:D009222 C10.597.613.700/C536245|C23.888.592.608.700/C536245 C10.597.613.700|C23.888.592.608.700 Nervous system disease|Signs and symptoms Non-Filarial Lymphedema MESH:D062846 A form of elephantiasis caused by soil particles which penetrate the skin of the foot. It is limited to tropical regions with soils of high volcanic content. MESH:D008209 C15.604.496.660 C15.604.496 Lymphedema, Non-Filarial|Lymphedemas, Non-Filarial|Non Filarial Lymphedema|Non-Filarial Lymphedemas Lymphatic disease Non functioning pancreatic endocrine tumor MESH:C536126 DO:DOID:7698 MESH:D010190 C04.588.274.761/C536126|C04.588.322.475/C536126|C06.301.761/C536126|C06.689.667/C536126|C19.344.421/C536126 C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Non-functioning endocrine pancreatic tumors Cancer|Digestive system disease|Endocrine system disease Noninflammatory corneal thinning MESH:C531720 MESH:D007640 C11.204.627/C531720 C11.204.627 Eye disease Noninsulin-dependent diabetes mellitus with deafness MESH:C536246 MESH:D003638|MESH:D003924|MESH:D028361 C09.218.458.341.186/C536246|C10.597.751.418.341.186/C536246|C18.452.394.750.149/C536246|C18.452.660/C536246|C19.246.300/C536246|C23.888.592.763.393.341.186/C536246 C09.218.458.341.186|C10.597.751.418.341.186|C18.452.394.750.149|C18.452.660|C19.246.300|C23.888.592.763.393.341.186 Ballinger-Wallace Syndrome|Diabetes and deafness, maternally inherited|Diabetes-deafness syndrome, maternally transmitted|Diabetes mellitus, type 2, with deafness|Diabetes Mellitus, Type II, With Deafness|Maternally inherited diabetes and deafness|Maternally Transmitted Diabetes-Deafness Syndrome|Mitochondrial Inherited Diabetes and Deafness|NIDDM with deafness Ear-nose-throat disease|Endocrine system disease|Metabolic disease|Nervous system disease|Signs and symptoms Nonkeratan-sulfate-excreting Morquio syndrome MESH:C536247 MESH:D009085 C16.320.565.202.715.655/C536247|C16.320.565.595.600.655/C536247|C17.300.550.575.655/C536247|C18.452.648.202.715.655/C536247|C18.452.648.595.600.655/C536247 C16.320.565.202.715.655|C16.320.565.595.600.655|C17.300.550.575.655|C18.452.648.202.715.655|C18.452.648.595.600.655 Morquio Syndrome C|Morquio syndrome, nonkeratan-sulfate-excreting type|Morquio Syndrome, Nonkeratosulfate-Excreting Type Connective tissue disease|Genetic disease (inborn)|Metabolic disease Non ketotic hyperglycinemia syndrome MESH:C000601856 MESH:D020158 C10.228.140.163.100.375/C000601856|C16.320.565.100.477/C000601856|C16.320.565.189.375/C000601856|C18.452.132.100.375/C000601856|C18.452.648.100.477/C000601856|C18.452.648.189.375/C000601856 C10.228.140.163.100.375|C16.320.565.100.477|C16.320.565.189.375|C18.452.132.100.375|C18.452.648.100.477|C18.452.648.189.375 Genetic disease (inborn)|Metabolic disease|Nervous system disease Non-lissencephalic cortical dysplasia MESH:C536243 MESH:D001927|MESH:D002658|MESH:D009069|MESH:D013064|MESH:D054220 C10.228.140/C536243|C10.228.662/C536243|C10.500.507/C536243|C10.597.606.150.500.800/C536243|C16.131.666.507/C536243|C23.888.592.604.150.500.800/C536243|F03.625.421/C536243 C10.228.140|C10.228.662|C10.500.507|C10.597.606.150.500.800|C16.131.666.507|C23.888.592.604.150.500.800|F03.625.421 Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms Nonmedullary thyroid carcinoma, with or without cell oxyphilia MESH:C537842 OMIM:603386 MESH:D013964 C04.588.322.894/C537842|C04.588.443.915/C537842|C19.344.894/C537842|C19.874.788/C537842 C04.588.322.894|C04.588.443.915|C19.344.894|C19.874.788 TCO|TCO1|Thyroid Carcinoma, Nonmedullary, With Or Without Cell Oxyphilia Cancer|Endocrine system disease Non-Muscle Invasive Bladder Neoplasms MESH:D000093284 DO:DOID:7371 A urothelial carcinoma found in the tissue that lines the inner surface of the bladder. The bladder muscle is not involved. MESH:D001749|MESH:D002277 C04.557.470.200.674|C04.588.945.947.960.500|C12.050.351.937.820.945.500|C12.050.351.968.829.707.500|C12.200.758.820.968.500|C12.200.777.829.813.500|C12.900.820.945.500|C12.950.829.707.500|C12.950.983.945.500 C04.557.470.200|C04.588.945.947.960|C12.050.351.937.820.945|C12.050.351.968.829.707|C12.200.758.820.968|C12.200.777.829.813|C12.900.820.945|C12.950.829.707|C12.950.983.945 Bladder Cancer, Non-Muscle-Invasive|Bladder Cancers, Non-Muscle-Invasive|Cancer, Non-Muscle-Invasive Bladder|Cancers, Non-Muscle-Invasive Bladder|NMIBC|Non-Muscle Invasive Bladder Cancer|Non-Muscle-Invasive Bladder Cancer|Non Muscle Invasive Bladder Neoplasms Cancer|Urogenital disease (female)|Urogenital disease (male) Nonodontogenic Cysts MESH:D009631 Cysts formed from epithelial inclusions in the lines of fusion of the embryonic processes which form the jaws. They include nasopalatine or incisive canal cyst, incisive papilla cyst, globulomaxillary cyst, median palatal cyst, median alveolar cyst, median mandibular cyst, and nasoalveolar cyst. MESH:D007570 C04.182.089.530.660|C05.500.470.660|C07.320.450.640 C04.182.089.530|C05.500.470|C07.320.450 Cyst, Nonodontogenic|Cysts, Nonodontogenic|Nonodontogenic Cyst Cancer|Mouth disease|Musculoskeletal disease Nonpuerperal galactorrhea MESH:C537072 MESH:D000568|MESH:D005687 C12.050.703.844.506.389/C537072|C17.800.090.937.439/C537072|C23.550.568.500/C537072 C12.050.703.844.506.389|C17.800.090.937.439|C23.550.568.500 Ahumada-Del Castillo syndrome|Amenorrhea-Galactorrhea-FSH Decrease Syndrome|Amenorrhea-galactorrhea, nonpuerperal|Amenorrhea-Galactorrhea Syndrome|Argonz-Ahumada-Del Castillo syndrome|Argonz-Del Castillo Syndrome|Forbes Albright syndrome|Galactorrhea-amenorrhea syndrome|Galactorrhea-Amenorrhea without Pregnancy|Nonpuerperal Galactorrhea-Amenorrhea Pathology (process)|Pregnancy complication|Skin disease Non-Radiographic Axial Spondyloarthritis MESH:D000089202 Chronic inflammatory conditions affecting the axial joints which cannot be detectable on x-rays. It is characterized by pain, stiffness of joints and inflammation. Non-radiographic axial spondyloarthritis can have symptoms onset before the age of 45 and progress to more severe ANKYLOSING SPONDYLITIS over time. MESH:D000089183 C05.116.900.853.625.800.744.250|C05.550.069.340.250|C05.550.114.865.800.744.250 C05.116.900.853.625.800.744|C05.550.069.340|C05.550.114.865.800.744 Axial Spondyloarthritis, Non-Radiographic|Non-Radiographic Axial Spondyloarthritides|Non Radiographic Axial Spondyloarthritis|Nr-axSpA|Spondyloarthritis, Non-Radiographic Axial Musculoskeletal disease Nonseminomatous germ cell tumor MESH:C537844 MESH:D009373|MESH:D013736 C04.557.465/C537844|C04.588.322.762/C537844|C04.588.945.440.915/C537844|C12.100.500.260.937/C537844|C12.200.294.260.937/C537844|C12.200.758.409.937/C537844|C12.900.619.937/C537844|C19.344.762/C537844|C19.391.829.782/C537844 C04.557.465|C04.588.322.762|C04.588.945.440.915|C12.100.500.260.937|C12.200.294.260.937|C12.200.758.409.937|C12.900.619.937|C19.344.762|C19.391.829.782 Non-seminomatous germ-cell tumors|NSGCT Nonseminomatous germ cell tumor Cancer|Endocrine system disease|Urogenital disease (male) Non-ST Elevated Myocardial Infarction MESH:D000072658 A myocardial infarction that does not produce elevations in the ST segments of the ELECTROCARDIOGRAM. ST segment elevation of the ECG is often used in determining the treatment protocol (see also ST Elevation Myocardial Infarction). MESH:D009203 C14.280.647.500.469|C14.907.585.500.656|C23.550.513.355.750.469|C23.550.717.489.750.469 C14.280.647.500|C14.907.585.500|C23.550.513.355.750|C23.550.717.489.750 Infarction, Non-ST-Elevation Myocardial|Infarctions, Non-ST-Elevation Myocardial|Myocardial Infarction, Non-ST-Elevation|Myocardial Infarctions, Non-ST-Elevation|Non ST Elevated Myocardial Infarction|Non ST Elevation Myocardial Infarction|Non-ST-Elevation Myocardial Infarction|Non-ST-Elevation Myocardial Infarctions|NSTEMI Cardiovascular disease|Pathology (process) Nonsyndromic Deafness MESH:C580334 DO:DOID:0050563 MESH:D003638 C09.218.458.341.186/C580334|C10.597.751.418.341.186/C580334|C23.888.592.763.393.341.186/C580334 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 Isolated Deafness|Nonsyndromic Hearing Impairment|Nonsyndromic Hearing Loss|Undifferentiated Deafness Ear-nose-throat disease|Nervous system disease|Signs and symptoms Nonsyndromic Holoprosencephaly MESH:C580335 MESH:D016142 C05.660.207.410/C580335|C10.500.034.875/C580335|C16.131.077.410/C580335|C16.131.260.380/C580335|C16.131.621.207.410/C580335|C16.131.666.034.875/C580335|C16.320.180.380/C580335 C05.660.207.410|C10.500.034.875|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.666.034.875|C16.320.180.380 Isolated Holoprosencephaly|Isolated Hpe|Nonsyndromic Hpe|Non-Syndromic, Non-Chromosomal Holoprosencephaly|Non-Syndromic, Non-Chromosomal Hpe Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Nonsyndromic sensorineural hearing loss MESH:C537845 MESH:D006319 C09.218.458.341.887/C537845|C10.597.751.418.341.887/C537845|C23.888.592.763.393.341.887/C537845 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Autosomal dominant nonsyndromic hereditary hearing impairment|Deafness, nonsyndromic sensorineural, mitochondrial|Nonsyndromic hereditary hearing impairment Ear-nose-throat disease|Nervous system disease|Signs and symptoms non-verbal learning disabilities MESH:C000726807 MESH:D007859 C10.597.606.150.550/C000726807|C23.888.592.604.150.550/C000726807|F03.625.562/C000726807 C10.597.606.150.550|C23.888.592.604.150.550|F03.625.562 nonverbal learning disabilities|non-verbal learning disability|nonverbal learning disability Mental disorder|Nervous system disease|Signs and symptoms Noonan like syndrome MESH:C537846 MESH:D006101|MESH:D009634 C05.500.368/C537846|C05.660.207.690/C537846|C07.320.391/C537846|C07.465.714.258.557/C537846|C14.240.400.787/C537846|C14.280.400.787/C537846|C16.131.240.400.784/C537846|C16.131.621.207.690/C537846|C17.300.690/C537846|C23.550.382.468/C537846 C05.500.368|C05.660.207.690|C07.320.391|C07.465.714.258.557|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690|C23.550.382.468 Noonan-like-multiple giant cell lesion syndrome|Noonan Syndrome With Pigmented Villonodular Synovitis Cardiovascular disease|Congenital abnormality|Connective tissue disease|Mouth disease|Musculoskeletal disease|Pathology (process) Noonan-Like Syndrome With Loose Anagen Hair MESH:C564342 MESH:D009634|MESH:D058247 C05.660.207.690/C564342|C14.240.400.787/C564342|C14.280.400.787/C564342|C16.131.240.400.784/C564342|C16.131.621.207.690/C564342|C17.300.690/C564342|C17.800.329.937.122.348/C564342|C23.300.035.500/C564342 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690|C17.800.329.937.122.348|C23.300.035.500 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease|Pathology (anatomical condition)|Skin disease Noonan Syndrome MESH:D009634 DO:DOID:3490|OMIM:163950 A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. MESH:D003240|MESH:D006330|MESH:D019465 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690 C05.660.207|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207|C17.300 Familial Turner Syndrome|Female Pseudo Turner Syndrome|Female Pseudo-Turner Syndrome|Male Turner's Syndrome|Male Turner Syndrome|Noonan Ehmke Syndrome|Noonan-Ehmke Syndrome|NOONAN SYNDROME|Noonan Syndrome 1|NS1|Pseudo-Turner Syndrome, Female|Pseudo Ullrich Turner Syndrome|Pseudo-Ullrich-Turner Syndrome|Turner Like Syndrome|Turner-Like Syndrome|Turner Phenotype with Normal Karyotype|TURNER PHENOTYPE WITH NORMAL KARYOTYPE PTERYGIUM COLLI SYNDROME, INCLUDED|Turner's Phenotype, Karyotype Normal|Turner's Syndrome, Male|Turner Syndrome, Familial|Turner Syndrome, Male|Ullrich Noonan Syndrome|Ullrich-Noonan Syndrome Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease NOONAN SYNDROME 10 OMIM:616564 DO:DOID:0060588 MESH:D009634 C05.660.207.690/616564|C14.240.400.787/616564|C14.280.400.787/616564|C16.131.240.400.784/616564|C16.131.621.207.690/616564|C17.300.690/616564 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690 NS10 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease Noonan Syndrome 2 MESH:C548081 DO:DOID:0060580|OMIM:605275 MESH:D009634 C05.660.207.690/C548081|C14.240.400.787/C548081|C14.280.400.787/C548081|C16.131.240.400.784/C548081|C16.131.621.207.690/C548081|C17.300.690/C548081 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690 Noonan Syndrome, Autosomal Recessive|NS2 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease Noonan syndrome 3 MESH:C537847 DO:DOID:0060581|OMIM:609942 MESH:D009634 C05.660.207.690/C537847|C14.240.400.787/C537847|C14.280.400.787/C537847|C16.131.240.400.784/C537847|C16.131.621.207.690/C537847|C17.300.690/C537847 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690 NS3 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease Noonan Syndrome 4 MESH:C548082 DO:DOID:0060582|OMIM:610733 MESH:D009634 C05.660.207.690/C548082|C14.240.400.787/C548082|C14.280.400.787/C548082|C16.131.240.400.784/C548082|C16.131.621.207.690/C548082|C17.300.690/C548082 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690 NS4 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease Noonan Syndrome 5 MESH:C548083 DO:DOID:0060583|OMIM:611553 MESH:D009634 C05.660.207.690/C548083|C14.240.400.787/C548083|C14.280.400.787/C548083|C16.131.240.400.784/C548083|C16.131.621.207.690/C548083|C17.300.690/C548083 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690 NS5 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease Noonan Syndrome 6 MESH:C548084 DO:DOID:0060584|OMIM:613224 MESH:D009634 C05.660.207.690/C548084|C14.240.400.787/C548084|C14.280.400.787/C548084|C16.131.240.400.784/C548084|C16.131.621.207.690/C548084|C17.300.690/C548084 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690 NS6 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease NOONAN SYNDROME 7 OMIM:613706 DO:DOID:0060585 MESH:D009634 C05.660.207.690/613706|C14.240.400.787/613706|C14.280.400.787/613706|C16.131.240.400.784/613706|C16.131.621.207.690/613706|C17.300.690/613706 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690 NS7 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease NOONAN SYNDROME 8 OMIM:615355 DO:DOID:0060586 MESH:D009634 C05.660.207.690/615355|C14.240.400.787/615355|C14.280.400.787/615355|C16.131.240.400.784/615355|C16.131.621.207.690/615355|C17.300.690/615355 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690 NS8 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease NOONAN SYNDROME 9 OMIM:616559 DO:DOID:0060587 MESH:D009634 C05.660.207.690/616559|C14.240.400.787/616559|C14.280.400.787/616559|C16.131.240.400.784/616559|C16.131.621.207.690/616559|C17.300.690/616559 C05.660.207.690|C14.240.400.787|C14.280.400.787|C16.131.240.400.784|C16.131.621.207.690|C17.300.690 NS9 Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 OMIM:607721 DO:DOID:0080692 MESH:C537846|MESH:D058247 C05.500.368/C537846/607721|C05.660.207.690/C537846/607721|C07.320.391/C537846/607721|C07.465.714.258.557/C537846/607721|C14.240.400.787/C537846/607721|C14.280.400.787/C537846/607721|C16.131.240.400.784/C537846/607721|C16.131.621.207.690/C537846/607721|C17.300.690/C537846/607721|C17.800.329.937.122.348/607721|C23.300.035.500/607721|C23.550.382.468/C537846/607721 C05.500.368/C537846|C05.660.207.690/C537846|C07.320.391/C537846|C07.465.714.258.557/C537846|C14.240.400.787/C537846|C14.280.400.787/C537846|C16.131.240.400.784/C537846|C16.131.621.207.690/C537846|C17.300.690/C537846|C17.800.329.937.122.348|C23.300.035.500|C23.550.382.468/C537846 MAZZANTI SYNDROME|NSLH|NSLH1|TOSTI SYNDROME Cardiovascular disease|Congenital abnormality|Connective tissue disease|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process)|Skin disease NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA OMIM:613563 MESH:C537846|MESH:D054429 C04.557.337.539.525/613563|C05.500.368/C537846/613563|C05.660.207.690/C537846/613563|C07.320.391/C537846/613563|C07.465.714.258.557/C537846/613563|C14.240.400.787/C537846/613563|C14.280.400.787/C537846/613563|C15.378.190.615.520/613563|C16.131.240.400.784/C537846/613563|C16.131.621.207.690/C537846/613563|C17.300.690/C537846/613563|C23.550.382.468/C537846/613563 C04.557.337.539.525|C05.500.368/C537846|C05.660.207.690/C537846|C07.320.391/C537846|C07.465.714.258.557/C537846|C14.240.400.787/C537846|C14.280.400.787/C537846|C15.378.190.615.520|C16.131.240.400.784/C537846|C16.131.621.207.690/C537846|C17.300.690/C537846|C23.550.382.468/C537846 CBL MUTATION-ASSOCIATED SYNDROME|CBL SYNDROME|NSLL Blood disease|Cancer|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Mouth disease|Musculoskeletal disease|Pathology (process) No-Reflow Phenomenon MESH:D054318 Markedly reduced or absent REPERFUSION in an infarct zone following the removal of an obstruction or constriction of an artery. MESH:D007511 C23.550.513.677 C23.550.513 No Reflow Phenomenon|Phenomenon, Slow-Flow|Slow Flow Phenomenon|Slow-Flow Phenomenon Pathology (process) Norman Roberts lissencephaly syndrome MESH:C537848 DO:DOID:0060902|OMIM:257320 MESH:D054082 C10.500.507.450.499/C537848|C16.131.666.507.450.499/C537848 C10.500.507.450.499|C16.131.666.507.450.499 LIS2|Lissencephaly 2|Lissencephaly syndrome, Norman-Roberts type|NORMAN-ROBERTS SYNDROME Congenital abnormality|Nervous system disease Normokalemic Periodic Paralysis, Potassium-Sensitive MESH:C566809 MESH:D010245 C05.651.701/C566809|C10.668.491.650/C566809|C16.320.565.618.711/C566809|C18.452.648.618.711/C566809 C05.651.701|C10.668.491.650|C16.320.565.618.711|C18.452.648.618.711 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Norrie disease MESH:C537849 DO:DOID:0060844|OMIM:310600 MESH:D001766|MESH:D009422|MESH:D012162|MESH:D013036|MESH:D040181 C10.228.140.490.375.760/C537849|C10.228.140.490.493.875/C537849|C10.597.751.941.162/C537849|C10/C537849|C11.270.612/C537849|C11.768.585/C537849|C11.966.075/C537849|C16.320.322/C537849|C23.888.592.763.941.162/C537849 C10|C10.228.140.490.375.760|C10.228.140.490.493.875|C10.597.751.941.162|C11.270.612|C11.768.585|C11.966.075|C16.320.322|C23.888.592.763.941.162 Anderson-Warburg Syndrome|Atrophia bulborum hereditaria|Congenital Progressive Oculo-Acoustico-Cerebral Degeneration|Episkopi blindness|Fetal Iritis Syndrome|ND|Norrie's Disease|Norrie syndrome|Norrie-Warburg syndrome|Oligophrenia Microphthalmus|Pseudoglioma|Pseudoglioma Congenita|Whitnall-Norman Syndrome Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms North American Indian Childhood Cirrhosis MESH:C565737 OMIM:604901 MESH:D008105 C06.130.120.135.250.250/C565737|C06.552.150.250/C565737|C06.552.630.400/C565737|C23.550.355.412.400/C565737 C06.130.120.135.250.250|C06.552.150.250|C06.552.630.400|C23.550.355.412.400 NAIC Digestive system disease|Pathology (process) Nose Deformities, Acquired MESH:D009667 Abnormalities of the nose acquired after birth from injury or disease. MESH:D009668 C08.460.619|C09.603.619 C08.460|C09.603 Acquired Nasal Deformities|Acquired Nasal Deformity|Acquired Nose Deformities|Acquired Nose Deformity|Nasal Deformities, Acquired|Nasal Deformity, Acquired|Nose Deformity, Acquired Ear-nose-throat disease|Respiratory tract disease Nose Diseases MESH:D009668 DO:DOID:2825 Disorders of the nose, general or unspecified. MESH:D010038|MESH:D012140 C08.460|C09.603 C08|C09 Disease, Nasal|Disease, Nose|Diseases, Nasal|Diseases, Nose|Disorder, Nasal|Disorders, Nasal|Nasal Disease|Nasal Diseases|Nasal Disorder|Nasal Disorders|Nose Disease Ear-nose-throat disease|Respiratory tract disease Nose Neoplasms MESH:D009669 Tumors or cancer of the NOSE. MESH:D009668|MESH:D010039|MESH:D012142|MESH:D012888 C04.588.149.721.600|C04.588.443.665.650|C05.116.231.754.600|C08.460.669|C08.785.600|C09.603.669|C09.647.685 C04.588.149.721|C04.588.443.665|C05.116.231.754|C08.460|C08.785|C09.603|C09.647 Cancer, Nasal|Cancer, Nose|Cancer of Nose|Cancer of the Nose|Cancers, Nasal|Cancers, Nose|Nasal Cancer|Nasal Cancers|Nasal Neoplasm|Nasal Neoplasms|Neoplasm, Nasal|Neoplasm, Nose|Neoplasms, Nasal|Neoplasms, Nose|Nose Cancer|Nose Cancers|Nose Neoplasm Cancer|Ear-nose-throat disease|Musculoskeletal disease|Respiratory tract disease Novak syndrome MESH:C537851 MESH:D000015|MESH:D004066|MESH:D014133 C06/C537851|C08.907/C537851|C16.131.077/C537851 C06|C08.907|C16.131.077 Cleft larynx, posterior|Laryngotracheoesophageal cleft pulmonary hypoplasia Congenital abnormality|Digestive system disease|Respiratory tract disease NOVELTY SEEKING PERSONALITY TRAIT OMIM:601696 MESH:D010554 F03.675/601696 F03.675 RISK-TAKING BEHAVIOR, INCLUDED Mental disorder N syndrome MESH:C536108 DO:DOID:0050769|OMIM:310465 MESH:D008607|MESH:D015458|MESH:D049914 C04.557.337.428.580/C536108|C10.597.606.360/C536108|C15.604.515.560.575/C536108|C18.452.284/C536108|C20.683.515.528.582/C536108|C23.888.592.604.646/C536108|F03.625.539/C536108 C04.557.337.428.580|C10.597.606.360|C15.604.515.560.575|C18.452.284|C20.683.515.528.582|C23.888.592.604.646|F03.625.539 NSX Cancer|Immune system disease|Lymphatic disease|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Nuchal bleb, familial MESH:C537852 MESH:D015160|MESH:D018191 C04.557.375.450.450/C537852|C12.050.703.277.060.480/C537852|C15.378.295.480/C537852|C15.378.420.826.100.350/C537852|C16.300.060.480/C537852|C16.320.365.826.100.350/C537852|C20.306.480/C537852|C23.888.277.395/C537852 C04.557.375.450.450|C12.050.703.277.060.480|C15.378.295.480|C15.378.420.826.100.350|C16.300.060.480|C16.320.365.826.100.350|C20.306.480|C23.888.277.395 Cystic hygroma, fetal|Familial nuchal bleb|Fetal cystic hygroma Blood disease|Cancer|Fetal disease|Genetic disease (inborn)|Immune system disease|Pregnancy complication|Signs and symptoms Nuchal Cord MESH:D053589 A complication of pregnancy in which the UMBILICAL CORD wraps around the fetal neck once or multiple times. In some cases, cord entanglement around fetal neck may not affect pregnancy outcome significantly. In others, the nuchal cord may lead to restricted fetal blood flow, oxygen transport, fetal development, fetal movement, and complicated delivery at birth. MESH:D005315|MESH:D011248 C12.050.703.413|C16.300.790 C12.050.703|C16.300 Cord, Double Nuchal|Cord Entanglements, Fetal|Cord, Nuchal|Double Nuchal Cord|Fetal Cord Entanglement|Fetal Cord Entanglements|Nuchal Cord, Double|Nuchal Cord, Quadruple|Nuchal Cord, Single|Nuchal Cord, Triple|Quadruple Nuchal Cord|Single Nuchal Cord|Triple Nuchal Cord Fetal disease|Pregnancy complication Nut and Peanut Hypersensitivity MESH:D000074924 Allergic reaction to tree nuts and peanuts, including other LEGUMES, that is triggered by the immune system. It includes co-sensitization to other food (e.g., sesame seed). MESH:D005512 C20.543.480.370.572 C20.543.480.370 Nut and Peanut Allergies|Nut and Peanut Allergy|Peanut and Nut Allergies|Peanut and Nut Allergy|Peanut and Tree Nut Allergies|Peanut and Tree Nut Allergy|Peanut and Tree Nut Hypersensitivity|Tree Nut and Peanut Allergy Immune system disease Nut Hypersensitivity MESH:D021184 DO:DOID:4379 Allergic reaction to tree nuts that is triggered by the immune system. MESH:D000074924 C20.543.480.370.572.500 C20.543.480.370.572 Allergies, Nut|Allergies, Tree Nut|Allergy, Nut|Allergy, Tree Nut|Hypersensitivities, Nut|Hypersensitivities, Tree Nut|Hypersensitivity, Nut|Hypersensitivity, Tree Nut|Nut Allergies|Nut Allergy|Nut Hypersensitivities|Nut Hypersensitivities, Tree|Nut Hypersensitivity, Tree|Tree Nut Allergies|Tree Nut Allergy|Tree Nut Hypersensitivities|Tree Nut Hypersensitivity Immune system disease Nutritional and Metabolic Diseases MESH:D009750 A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. MESH:C C18 C Nutrition Disorders MESH:D009748 DO:DOID:374 Disorders caused by nutritional imbalance, either overnutrition or undernutrition. MESH:D009750 C18.654 C18 Nutritional Disorder|Nutritional Disorders|Nutrition Disorder Nutrition disorder Nyctophobia MESH:C000719208 MESH:D010698 F03.080.725/C000719208 F03.080.725 Achluophobia|Fear of darkness|Fear of the dark|Fear of the night|Noctiphobia Mental disorder Nystagmus 1, congenital, X- linked MESH:C537853 OMIM:310700 MESH:D020417 C10.292.562.675.300/C537853|C11.590.400.300/C537853|C16.614.643/C537853 C10.292.562.675.300|C11.590.400.300|C16.614.643 NYS1|Nystagmus 1, Congenital, X-Linked|Nystagmus 1, Infantile, X-Linked|Nystagmus, congenital motor, 1|NYSTAGMUS, INFANTILE IDIOPATHIC, FORMERLY;IIN, FORMERLY NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED|XIPAN, INCLUDED|XLPAN, INCLUDED Eye disease|Infant-newborn disease|Nervous system disease Nystagmus 2, congenital, autosomal dominant MESH:C537854 OMIM:164100 MESH:D020417 C10.292.562.675.300/C537854|C11.590.400.300/C537854|C16.614.643/C537854 C10.292.562.675.300|C11.590.400.300|C16.614.643 NYS2|Nystagmus congenital, motor 2|Nystagmus, Congenital Motor, 2 Eye disease|Infant-newborn disease|Nervous system disease Nystagmus 3, congenital, autosomal dominant MESH:C537855 OMIM:608345 MESH:D020417 C10.292.562.675.300/C537855|C11.590.400.300/C537855|C16.614.643/C537855 C10.292.562.675.300|C11.590.400.300|C16.614.643 NYS3 Eye disease|Infant-newborn disease|Nervous system disease Nystagmus 4, congenital, autosomal dominant MESH:C537856 MESH:D020417 C10.292.562.675.300/C537856|C11.590.400.300/C537856|C16.614.643/C537856 C10.292.562.675.300|C11.590.400.300|C16.614.643 Vestibulocerebellar disorder with predominant ocular signs Eye disease|Infant-newborn disease|Nervous system disease NYSTAGMUS 5, CONGENITAL, X-LINKED OMIM:300589 DO:DOID:0111796 MESH:D020417 C10.292.562.675.300/300589|C11.590.400.300/300589|C16.614.643/300589 C10.292.562.675.300|C11.590.400.300|C16.614.643 NYS5 Eye disease|Infant-newborn disease|Nervous system disease Nystagmus 5, Infantile Periodic Alternating MESH:C564478 MESH:D020417|MESH:D040181 C10.292.562.675.300/C564478|C11.590.400.300/C564478|C16.320.322/C564478|C16.614.643/C564478 C10.292.562.675.300|C11.590.400.300|C16.320.322|C16.614.643 Nystagmus, Infantile Periodic Alternating, X-Linked Eye disease|Genetic disease (inborn)|Infant-newborn disease|Nervous system disease NYSTAGMUS 6, CONGENITAL, X-LINKED OMIM:300814 DO:DOID:0111795 MESH:D020417 C10.292.562.675.300/300814|C11.590.400.300/300814|C16.614.643/300814 C10.292.562.675.300|C11.590.400.300|C16.614.643 NYS6 Eye disease|Infant-newborn disease|Nervous system disease Nystagmus, Congenital MESH:D020417 DO:DOID:9649 Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275) MESH:D007232|MESH:D009759 C10.292.562.675.300|C11.590.400.300|C16.614.643 C10.292.562.675|C11.590.400|C16.614 Congenital Nystagmus Eye disease|Infant-newborn disease|Nervous system disease Nystagmus, Congenital Motor, Autosomal Recessive MESH:C564938 MESH:D020417 C10.292.562.675.300/C564938|C11.590.400.300/C564938|C16.614.643/C564938 C10.292.562.675.300|C11.590.400.300|C16.614.643 Eye disease|Infant-newborn disease|Nervous system disease Nystagmus, Myoclonic MESH:C564088 MESH:D009207|MESH:D009759 C10.292.562.675/C564088|C10.597.350.500/C564088|C11.590.400/C564088|C23.888.592.350.500/C564088 C10.292.562.675|C10.597.350.500|C11.590.400|C23.888.592.350.500 Eye disease|Nervous system disease|Signs and symptoms Nystagmus, Pathologic MESH:D009759 DO:DOID:11771|DO:DOID:13174|DO:DOID:9650 Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272) MESH:D015835 C10.292.562.675|C11.590.400 C10.292.562|C11.590 Conjugate Nystagmus|Convergence Nystagmus|Dissociated Nystagmus|Fatigable Positional Nystagmus|Horizontal Nystagmus|Jerk Nystagmus|Multidirectional Nystagmus|Non Fatigable Positional Nystagmus|Non-Fatigable Positional Nystagmus|Nystagmus, Conjugate|Nystagmus, Convergence|Nystagmus, Dissociated|Nystagmus, Fatigable Positional|Nystagmus, Horizontal|Nystagmus, Jerk|Nystagmus, Multidirectional|Nystagmus, Non-Fatigable Positional|Nystagmus, Pendular|Nystagmus, Periodic Alternating|Nystagmus, Permanent|Nystagmus, Rebound|Nystagmus, Retraction|Nystagmus, Rotary|Nystagmus, Rotational|Nystagmus, See-Saw|Nystagmus, Spontaneous Ocular|Nystagmus, Symptomatic|Nystagmus, Temporary|Nystagmus, Unidirectional|Nystagmus, Vertical|Ocular Nystagmus, Spontaneous|Pathologic Nystagmus|Pendular Nystagmus|Periodic Alternating Nystagmus|Permanent Nystagmus|Positional Nystagmus, Non-Fatigable|Rebound Nystagmus|Retraction Nystagmus|Rotary Nystagmus|Rotational Nystagmus|See Saw Nystagmus|See-Saw Nystagmus|Spontaneous Ocular Nystagmus|Symptomatic Nystagmus|Temporary Nystagmus|Unidirectional Nystagmus|Vertical Nystagmus Eye disease|Nervous system disease Obesity MESH:D009765 DO:DOID:9970|OMIM:601665 A status with BODY WEIGHT that is grossly above the recommended standards, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). MESH:D050177 C18.654.726.750.500|C23.888.144.699.500 C18.654.726.750|C23.888.144.699 LEANNESS, INCLUDED Nutrition disorder|Signs and symptoms Obesity, Abdominal MESH:D056128 A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as DIABETES; HYPERTENSION; and METABOLIC SYNDROME. MESH:D009765 C18.654.726.750.500.615|C23.888.144.699.500.063 C18.654.726.750.500|C23.888.144.699.500 Abdominal Obesities|Abdominal Obesity|Central Obesities|Central Obesity|Obesities, Abdominal|Obesities, Central|Obesities, Visceral|Obesity, Central|Obesity, Visceral|Visceral Obesities|Visceral Obesity Nutrition disorder|Signs and symptoms Obesity, Hyperphagia, and Developmental Delay MESH:C563938 OMIM:613886 MESH:D002658|MESH:D006963|MESH:D009765 C18.654.726.750.500/C563938|C23.888.144.699.500/C563938|C23.888.821.645/C563938|F03.625.421/C563938 C18.654.726.750.500|C23.888.144.699.500|C23.888.821.645|F03.625.421 OBHD Mental disorder|Nutrition disorder|Signs and symptoms Obesity Hypoventilation Syndrome MESH:D010845 HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately. MESH:D007040|MESH:D009765|MESH:D020181 C08.618.085.852.850.500|C08.618.846.565.500|C10.886.425.800.750.850.500|C18.654.726.750.500.600 C08.618.085.852.850|C08.618.846.565|C10.886.425.800.750.850|C18.654.726.750.500 Hypoventilation Syndrome, Obesity|Obesity-Hypoventilation Syndrome|Obesity-Hypoventilation Syndromes|Pickwickian Syndrome Nervous system disease|Nutrition disorder|Respiratory tract disease Obesity, Maternal MESH:D000079262 BODY MASS INDEX in PREGNANT WOMEN that is excessively above the recommended cut-off. MESH:D009765|MESH:D011248 C12.050.703.417|C18.654.726.750.500.633|C23.888.144.699.500.125 C12.050.703|C18.654.726.750.500|C23.888.144.699.500 Maternal Obesity|Obesity in Pregnancy Nutrition disorder|Pregnancy complication|Signs and symptoms Obesity, Metabolically Benign MESH:D000067329 A sub-PHENOTYPE of obese individuals who have a risk for CARDIOVASCULAR DISEASES between that of healthy individuals with normal weight and unhealthy individuals with obesity. MESH:D009765 C18.654.726.750.500.650|C23.888.144.699.500.250 C18.654.726.750.500|C23.888.144.699.500 Benign Obesity, Metabolically|Healthy Obesity, Metabolically|Metabolically Benign Obesity|Metabolically Healthy Obesity|Obesity, Metabolically Healthy Nutrition disorder|Signs and symptoms Obesity, Morbid MESH:D009767 DO:DOID:11981 The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2. MESH:D009765 C18.654.726.750.500.700|C23.888.144.699.500.500 C18.654.726.750.500|C23.888.144.699.500 Morbid Obesities|Morbid Obesity|Obesities, Morbid|Obesities, Severe|Obesity, Severe|Severe Obesities|Severe Obesity Nutrition disorder|Signs and symptoms Obesophobia MESH:C000719209 MESH:D010698 F03.080.725/C000719209 F03.080.725 Fear of gaining weight|Phobia, gaining weight Mental disorder Obsessive-Compulsive Disorder MESH:D009771 DO:DOID:10933|OMIM:164230 An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension. MESH:D001008 F03.080.600 F03.080 Anankastic Personalities|Anankastic Personality|Disorder, Obsessive-Compulsive|Disorders, Obsessive-Compulsive|Neuroses, Obsessive-Compulsive|Neurosis, Obsessive Compulsive|Neurosis, Obsessive-Compulsive|Obsessive Compulsive Disorder|Obsessive-Compulsive Disorders|Obsessive-Compulsive Neuroses|Obsessive-Compulsive Neurosis|OCD|Personalities, Anankastic|Personality, Anankastic Mental disorder Obstetric Labor Complications MESH:D007744 Medical problems associated with OBSTETRIC LABOR, such as BREECH PRESENTATION; PREMATURE OBSTETRIC LABOR; HEMORRHAGE; or others. These complications can affect the well-being of the mother, the FETUS, or both. MESH:D011248 C12.050.703.420 C12.050.703 Complication, Labor|Complication, Obstetric Labor|Complications, Labor|Complications, Obstetric Labor|Labor Complication|Labor Complication, Obstetric|Labor Complications|Labor Complications, Obstetric|Obstetric Labor Complication Pregnancy complication Obstetric Labor, Premature MESH:D007752 Onset of OBSTETRIC LABOR before term (TERM BIRTH) but usually after the FETUS has become viable. In humans, it occurs sometime during the 29th through 38th week of PREGNANCY. TOCOLYSIS inhibits premature labor and can prevent the BIRTH of premature infants (INFANT, PREMATURE). MESH:D007744 C12.050.703.420.491 C12.050.703.420 Labor, Premature|Labor, Premature Obstetric|Labor, Preterm|Premature Labor|Premature Obstetric Labor|Preterm Labor Pregnancy complication Occipital horn syndrome MESH:C537860 DO:DOID:0111272|OMIM:304150 MESH:D003483|MESH:D004535 C14.907.454.240/C537860|C15.378.463.515.240/C537860|C16.131.831.428/C537860|C16.320.850.180/C537860|C16.320.850.260/C537860|C17.300.200.310/C537860|C17.300.230/C537860|C17.800.804.428/C537860|C17.800.827.180/C537860|C17.800.827.260/C537860 C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.850.180|C16.320.850.260|C17.300.200.310|C17.300.230|C17.800.804.428|C17.800.827.180|C17.800.827.260 Cutis laxa X-linked|Cutis Laxa, X-Linked|CUTIS LAXA, X-LINKED, FORMERLY|EDS9, FORMERLY|EDS IX|EDS IX, FORMERLY|Ehlers-Danlos syndrome, occipital horn type|Ehlers-Danlos syndrome, occipital horn type (formerly)|EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY|OHS Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease OCCULT MACULAR DYSTROPHY OMIM:613587 DO:DOID:0050578 MESH:D008268 C11.768.585.439/613587 C11.768.585.439 OCMD|OMD Eye disease Occupational Diseases MESH:D009784 Diseases caused by factors involved in one's employment. MESH:C C24 C Disease, Occupational|Diseases, Occupational|Illnesse, Occupational|Illnesses, Occupational|Occupational Disease|Occupational Illnesse|Occupational Illnesses Occupational disease Occupational Injuries MESH:D060051 Injuries sustained from incidents in the course of work-related activities. MESH:D014947 C26.716 C26 Injuries, Occupational|Injury, Occupational|Occupational Injury Wounds and injuries Occupational Stress MESH:D000073397 Adverse psychological and behavioral reactions caused by the pressures and demands of employers or clients or other factors, such as the physical environment of the workplace, WORKPLACE VIOLENCE; or WORKPLACE BULLYING. MESH:D009784 C24.580 C24 Abuses, Workplace|Abuse, Workplace|Bullying, Workplace|Job related Stress|Job-related Stress|Job-related Stresses|Job Stress|Job Stresses|Occupational Stresses|Professional Stress|Professional Stresses|Stresses, Job|Stresses, Job-related|Stresses, Occupational|Stresses, Professional|Stresses, Workplace|Stresses, Work Place|Stresses, Work-related|Stress, Job|Stress, Job-related|Stress, Occupational|Stress, Professional|Stress, Workplace|Stress, Work Place|Stress, Work-related|Workplace Abuse|Workplace Abuses|Workplace Bullying|Workplace Stress|Work Place Stress|Workplace Stresses|Work Place Stresses|Work related Stress|Work-related Stress|Work-related Stresses Occupational disease Ochronosis MESH:D009794 DO:DOID:14223 The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES). MESH:D010335 C23.550.744 C23.550 Ochronoses Pathology (process) Ochronosis, hereditary MESH:C537862 MESH:D009794 C23.550.744/C537862 C23.550.744 Hereditary ochronosis Pathology (process) Ocular Albinism type 1 MESH:C537863 OMIM:300500 MESH:D016117 C11.270.040.090/C537863|C16.320.290.040.090/C537863|C16.320.565.100.102.090/C537863|C16.320.850.080.090/C537863|C17.800.621.440.102.090/C537863|C17.800.827.080.090/C537863|C18.452.648.100.102.090/C537863 C11.270.040.090|C16.320.290.040.090|C16.320.565.100.102.090|C16.320.850.080.090|C17.800.621.440.102.090|C17.800.827.080.090|C18.452.648.100.102.090 Albinism, Ocular, Type I|Nettleship-Falls type ocular albinism|OA1 Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Ocular Hypertension MESH:D009798 DO:DOID:9282 A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma. MESH:D005128 C11.525 C11 Glaucomas, Suspect|Glaucoma, Suspect|Hypertension, Ocular|Hypertensions, Ocular|Ocular Hypertensions|Suspect Glaucoma|Suspect Glaucomas Eye disease Ocular Hypotension MESH:D015814 DO:DOID:790 Abnormally low intraocular pressure often related to chronic inflammation (uveitis). MESH:D005128 C11.540 C11 Hypotension, Ocular|Hypotony, Ocular|Ocular Hypotony Eye disease Ocular Motility Disorders MESH:D015835 DO:DOID:10235|DO:DOID:1279|DO:DOID:538 Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240) MESH:D002493|MESH:D003389|MESH:D005128 C10.228.758|C10.292.562|C11.590 C10.228|C10.292|C11 Brown's Tendon Sheath Syndrome|Brown Tendon Sheath Syndrome|Conjugate Gaze Spasm|Conjugate Gaze Spasms|Convergence Excess|Convergence Excesses|Convergence Insufficiencies|Convergence Insufficiency|Cyclophoria|Cyclophorias|Deficiencies, Smooth Pursuit|Deficiency, Smooth Pursuit|Deviation, Skew|Deviations, Skew|Dyskinesia, Paroxysmal Ocular|Dyskinesias, Paroxysmal Ocular|Excess, Convergence|Eye Motility Disorder|Eye Motility Disorders|Eye Movement Disorder|Eye Movement Disorders|Gaze Spasms, Conjugate|Insufficiencies, Convergence|Insufficiency, Convergence|Internuclear Ophthalmoplegia|Internuclear Ophthalmoplegias|Ocular Dyskinesia, Paroxysmal|Ocular Dyskinesias, Paroxysmal|Ocular Motility Disorder|Ocular Torticollis|Ophthalmoplegia, Internuclear|Ophthalmoplegias, Internuclear|Opsoclonus|Parinaud's Syndrome|Parinauds Syndrome|Parinaud Syndrome|Paroxysmal Ocular Dyskinesia|Paroxysmal Ocular Dyskinesias|Pseudoophthalmoplegia|Pseudoophthalmoplegias|Pursuit Deficiencies, Smooth|Pursuit Deficiency, Smooth|Skew Deviation|Skew Deviations|Smooth Pursuit Deficiencies|Smooth Pursuit Deficiency|Spasm of Conjugate Gaze|Syndrome, Brown's Tendon Sheath|Syndrome, Parinaud|Syndrome, Parinaud's|Tendon Sheath Syndrome of Brown Eye disease|Nervous system disease Ocular Myopathy with Curare Sensitivity MESH:C564937 MESH:D009886 C10.292.562.750/C564937|C10.597.622.447/C564937|C11.590.472/C564937|C23.888.592.636.447/C564937 C10.292.562.750|C10.597.622.447|C11.590.472|C23.888.592.636.447 Eye disease|Nervous system disease|Signs and symptoms Oculoauricular Syndrome MESH:C567416 DO:DOID:0060482|OMIM:612109 MESH:D005124 C11.250/C567416|C16.131.384/C567416 C11.250|C16.131.384 MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR|OCACS|SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME Congenital abnormality|Eye disease Oculoauriculofrontonasal syndrome MESH:C537865 MESH:D005124|MESH:D015619|MESH:D019465 C05.660.207/C537865|C08.695/C537865|C11.250/C537865|C16.131.384/C537865|C16.131.621.207/C537865|C16.131.740/C537865 C05.660.207|C08.695|C11.250|C16.131.384|C16.131.621.207|C16.131.740 Oculoauriculofrontonasal dysplasia Congenital abnormality|Eye disease|Musculoskeletal disease|Respiratory tract disease Oculocerebral hypopigmentation syndrome type Preus MESH:C537866 MESH:D000015|MESH:D010859|MESH:D019465 C05.660.207/C537866|C16.131.077/C537866|C16.131.621.207/C537866|C17.800.621/C537866|C23.550.755/C537866 C05.660.207|C16.131.077|C16.131.621.207|C17.800.621|C23.550.755 Cross syndrome|Kramer Syndrome|Oculocerebral Hypopigmentation Syndrome of Preus|Oculocerebral syndrome with hypopigmentation Congenital abnormality|Musculoskeletal disease|Pathology (process)|Skin disease Oculocerebrocutaneous syndrome MESH:C538088 MESH:D005124|MESH:D012868|MESH:D020863 C04.588.614.250.387/C538088|C10.500.142/C538088|C10.551.240.375/C538088|C11.250/C538088|C16.131.384/C538088|C16.131.666.142/C538088|C16.131.831/C538088|C17.800.804/C538088 C04.588.614.250.387|C10.500.142|C10.551.240.375|C11.250|C16.131.384|C16.131.666.142|C16.131.831|C17.800.804 Delleman syndrome|Oculo-cerebro-cutaneous syndrome|Orbital cyst with cerebral and focal dermal malformations Cancer|Congenital abnormality|Eye disease|Nervous system disease|Skin disease Oculocerebrorenal Syndrome MESH:D009800 DO:DOID:1056|OMIM:309000 A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) MESH:D000015|MESH:D015499|MESH:D020157|MESH:D020739|MESH:D030342|MESH:D040181 C10.228.140.163.100.640|C12.050.351.968.419.815.720|C12.200.777.419.815.720|C12.950.419.815.720|C16.131.077.662|C16.320.322.750|C16.320.565.151.600|C16.320.565.189.640|C16.320.709|C16.320.831.750|C18.452.132.100.640|C18.452.648.151.600|C18.452.648.189.640 C10.228.140.163.100|C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.131.077|C16.320|C16.320.322|C16.320.565.151|C16.320.565.189|C16.320.831|C18.452.132.100|C18.452.648.151|C18.452.648.189 Cerebrooculorenal Syndrome|Cerebro Oculo Renal Syndrome|Cerebro-Oculo-Renal Syndrome|Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase|Dystrophy, Oculocerebrorenal|Lowe Bickel Syndrome|Lowe-Bickel Syndrome|Lowe Disease|Lowe Oculocerebrorenal Syndrome|Lowe Syndrome|Lowe Terrey MacLachlan Syndrome|Lowe-Terrey-MacLachlan Syndrome|OCRL|OCRL1|Oculocerebrorenal Dystrophy|Oculocerebrorenal Syndrome of Lowe|Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency|Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency|Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency|Renal Oculocerebrodystrophy|Renal-Oculocerebrodystrophy Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Oculocutaneous albinism type 1 MESH:C537728 OMIM:203100 MESH:D016115 C11.270.040.545/C537728|C16.320.290.040.100/C537728|C16.320.565.100.102.100/C537728|C16.320.850.080.100/C537728|C17.800.621.440.102.100/C537728|C17.800.827.080.100/C537728|C18.452.648.100.102.100/C537728 C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100 Albinism 1|Albinism I|Albinism, Oculocutaneous, Type IA|ATN|OCA1|OCA1A|Oculocutaneous albinism type 1A|Oculocutaneous Albinism, Type I|Oculocutaneous albinism, tyrosinase negative|Oculocutaneous Albinism, Tyrosinase-Negative Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Oculocutaneous albinism type 1B MESH:C537729 DO:DOID:0070095|OMIM:606952 MESH:D016115 C11.270.040.545/C537729|C16.320.290.040.100/C537729|C16.320.565.100.102.100/C537729|C16.320.850.080.100/C537729|C17.800.621.440.102.100/C537729|C17.800.827.080.100/C537729|C18.452.648.100.102.100/C537729 C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100 Albinism, Oculocutaneous, Type Ib|Albinism, yellow mutant type|OCA1B|OCA1-TS, INCLUDED|Oculocutaneous Albinism, Type Ib|Yellow albinism|YELLOW ALBINISM ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Oculocutaneous albinism type 2 MESH:C537730 DO:DOID:0070096|OMIM:203200 MESH:D016115 C11.270.040.545/C537730|C16.320.290.040.100/C537730|C16.320.565.100.102.100/C537730|C16.320.850.080.100/C537730|C17.800.621.440.102.100/C537730|C17.800.827.080.100/C537730|C18.452.648.100.102.100/C537730 C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100 Albinism 2|Albinism II|ALBINISM II ALBINISM, BROWN OCULOCUTANEOUS, INCLUDED|Albinism, oculocutaneous, type 2|Albinism, Oculocutaneous, Type II|Albinoidism|BOCA, INCLUDED|BROWN OCULOCUTANEOUS ALBINISM, INCLUDED|OCA2|Oculocutaneous Albinism, Type II|Oculocutaneous albinism tyrosinase positive|Oculocutaneous Albinism, Tyrosinase-Positive|Tyrosinase-positive oculocutaneous albinism Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Oculocutaneous Albinism, Type IV MESH:C564696 OMIM:606574 MESH:D016115 C11.270.040.545/C564696|C16.320.290.040.100/C564696|C16.320.565.100.102.100/C564696|C16.320.850.080.100/C564696|C17.800.621.440.102.100/C564696|C17.800.827.080.100/C564696|C18.452.648.100.102.100/C564696 C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100 Albinism, Oculocutaneous, Type IV|OCA4|Oculocutaneous albinism, type 4|OCULOCUTANEOUS ALBINISM, TYPE IV Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease Oculodental syndrome Rutherfurd syndrome MESH:C537732 MESH:D003317|MESH:D005886 C07.465.714.258.428.260/C537732|C11.204.236/C537732|C11.270.162/C537732|C16.320.290.162/C537732 C07.465.714.258.428.260|C11.204.236|C11.270.162|C16.320.290.162 Corneal dystrophy with gum hypertrophy|Gingival hypertrophy corneal dystrophy|Gingival Hypertrophy With Corneal Dystrophy|Rutherfurd syndrome Eye disease|Genetic disease (inborn)|Mouth disease Oculodentodigital Dysplasia MESH:C563160 DO:DOID:0060291|OMIM:164200 MESH:D005124|MESH:D005532|MESH:D013576|MESH:D014071|MESH:D019465 C05.116.099.370.894.819/C563160|C05.330.495/C563160|C05.660.207/C563160|C05.660.585.512.380/C563160|C05.660.585.800/C563160|C05.660.906.819/C563160|C07.650.800/C563160|C07.793.700/C563160|C11.250/C563160|C16.131.384/C563160|C16.131.621.207/C563160|C16.131.621.585.512.500/C563160|C16.131.621.585.800/C563160|C16.131.621.906.819/C563160|C16.131.850.800/C563160 C05.116.099.370.894.819|C05.330.495|C05.660.207|C05.660.585.512.380|C05.660.585.800|C05.660.906.819|C07.650.800|C07.793.700|C11.250|C16.131.384|C16.131.621.207|C16.131.621.585.512.500|C16.131.621.585.800|C16.131.621.906.819|C16.131.850.800 Oculo-Dento-Digital Dysplasia|Oculodentodigital Syndrome|Oculodentoosseous Dysplasia|Oculo-Dento-Osseous Dysplasia|ODDD|ODD Syndrome|ODOD|Osseous-Oculo-Dental Dysplasia Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Oculodentodigital Dysplasia, Autosomal Recessive MESH:C567605 OMIM:257850 MESH:D005124|MESH:D013576|MESH:D014071|MESH:D019465 C05.116.099.370.894.819/C567605|C05.660.207/C567605|C05.660.585.800/C567605|C05.660.906.819/C567605|C07.650.800/C567605|C07.793.700/C567605|C11.250/C567605|C16.131.384/C567605|C16.131.621.207/C567605|C16.131.621.585.800/C567605|C16.131.621.906.819/C567605|C16.131.850.800/C567605 C05.116.099.370.894.819|C05.660.207|C05.660.585.800|C05.660.906.819|C07.650.800|C07.793.700|C11.250|C16.131.384|C16.131.621.207|C16.131.621.585.800|C16.131.621.906.819|C16.131.850.800 Oculodentoosseous Dysplasia, Autosomal Recessive|ODDD, AUTOSOMAL RECESSIVE|ODOD, AUTOSOMAL RECESSIVE Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Oculodentoosseous dysplasia recessive MESH:C537733 MESH:D003744|MESH:D005146|MESH:D008850|MESH:D013576 C05.116.099.370.894.819/C537733|C05.660.585.800/C537733|C05.660.906.819/C537733|C07.650.800.295.625/C537733|C07.793.700.295.625/C537733|C11.250.566/C537733|C16.131.384.666/C537733|C16.131.621.585.800/C537733|C16.131.621.906.819/C537733|C16.131.850.800.295.625/C537733|C23.300.505/C537733 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C07.650.800.295.625|C07.793.700.295.625|C11.250.566|C16.131.384.666|C16.131.621.585.800|C16.131.621.906.819|C16.131.850.800.295.625|C23.300.505 Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition) Oculodigitoesophagoduodenal syndrome MESH:C537734 DO:DOID:0060464|OMIM:164280|OMIM:614326 MESH:D008607|MESH:D008831|MESH:D014138|MESH:D017880 C05.660.207.620/C537734|C05.660.585/C537734|C06.267.250.725/C537734|C06.405.117.367.725/C537734|C08.702.750/C537734|C08.907.863/C537734|C10.500.507.400.500/C537734|C10.597.606.360/C537734|C16.131.621.207.620/C537734|C16.131.621.585/C537734|C16.131.666.507.400.500/C537734|C23.300.575.185.250.725/C537734|C23.888.592.604.646/C537734|F03.625.539/C537734 C05.660.207.620|C05.660.585|C06.267.250.725|C06.405.117.367.725|C08.702.750|C08.907.863|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.621.585|C16.131.666.507.400.500|C23.300.575.185.250.725|C23.888.592.604.646|F03.625.539 BRACHYDACTYLY WITH SHORT STATURE AND MICROCEPHALY|Brunner Winter syndrome|Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum|Feingold syndrome|FEINGOLD SYNDROME 1|FEINGOLD SYNDROME 2|FGLDS1|FGLDS2|Microcephaly and Digital Abnormalities with Normal Intelligence|Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome|Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula (MMT) Syndrome|Microcephaly-Oculo-Digito-Esophageal-Duodenal (MODED) Syndrome|Microcephaly-oculo-digito-esophageal-duodenal syndrome|MMT Syndrome|MODED|MODED syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome|OCULODIGITOESOPHAGODUODENAL SYNDROME|Oculo-Digito-Esophagoduodental (ODED) Syndrome|ODED|ODED Syndrome Congenital abnormality|Digestive system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Respiratory tract disease|Signs and symptoms Oculomaxillofacial dysostosis MESH:C537736 OMIM:600251 MESH:D002972|MESH:D003394|MESH:D005124|MESH:D019767 C05.116.099.370.231/C537736|C05.500.460.185/C537736|C05.660.207.231/C537736|C05.660.207.540.460.185/C537736|C05.660.207.540/C537736|C07.320.440.185/C537736|C07.465.525.185/C537736|C07.650.500.460.185/C537736|C07.650.500/C537736|C07.650.525.185/C537736|C11.250/C537736|C16.131.384/C537736|C16.131.621.207.231/C537736|C16.131.621.207.540.460.185/C537736|C16.131.621.207.540/C537736|C16.131.850.500.460.185/C537736|C16.131.850.500/C537736|C16.131.850.525.185/C537736 C05.116.099.370.231|C05.500.460.185|C05.660.207.231|C05.660.207.540|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500|C07.650.500.460.185|C07.650.525.185|C11.250|C16.131.384|C16.131.621.207.231|C16.131.621.207.540|C16.131.621.207.540.460.185|C16.131.850.500|C16.131.850.500.460.185|C16.131.850.525.185 FACIAL CLEFTING, OBLIQUE, 1|OBLFC1|Oblique facial clefts|Oculomaxillofacial dysplasia with oblique facial clefts|Richieri Costa Gorlin syndrome Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Oculomelic amyoplasia MESH:C537737 DO:DOID:0111608 MESH:D001176|MESH:D009886|MESH:D012164 C05.550.150/C537737|C05.651.102/C537737|C05.660.077/C537737|C10.292.562.750/C537737|C10.597.622.447/C537737|C11.590.472/C537737|C11.768/C537737|C16.131.621.077/C537737|C23.888.592.636.447/C537737 C05.550.150|C05.651.102|C05.660.077|C10.292.562.750|C10.597.622.447|C11.590.472|C11.768|C16.131.621.077|C23.888.592.636.447 Arthrogryposis, Distal, Type 5|Arthrogryposis, Distal, Type IIb|Arthrogryposis with oculomotor limitation and electroretinal abnormalities Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Oculomotor Nerve Diseases MESH:D015840 DO:DOID:10864|DO:DOID:10866|DO:DOID:11550 Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression. (From Adams et al., Principles of Neurology, 6th ed, p270) MESH:D015835 C10.292.562.700|C11.590.436 C10.292.562|C11.590 Cranial Nerve III Diseases|Nerve Disease, Oculomotor|Nerve Disorder, Oculomotor|Nerve Palsy, Oculomotor|Nerve Paralysis, Oculomotor|Neuropathy, Oculomotor|Oculomotor Nerve Disease|Oculomotor Nerve Disorder|Oculomotor Nerve Disorders|Oculomotor Nerve Palsies|Oculomotor Nerve Palsy|Oculomotor Nerve Paralyses|Oculomotor Nerve Paralysis|Oculomotor Neuropathies|Oculomotor Neuropathy|Palsy, Oculomotor Nerve|Palsy, Partial Third-Nerve|Palsy, Third-Nerve|Palsy, Total Third-Nerve|Paralysis, Oculomotor Nerve|Paralysis, Third-Nerve|Partial Third-Nerve Palsies|Partial Third Nerve Palsy|Partial Third-Nerve Palsy|Third Cranial Nerve Diseases|Third-Nerve Palsies|Third-Nerve Palsies, Partial|Third Nerve Palsy|Third-Nerve Palsy|Third-Nerve Palsy, Partial|Third-Nerve Palsy, Total|Third-Nerve Paralyses|Third Nerve Paralysis|Third-Nerve Paralysis|Total Third-Nerve Palsies|Total Third Nerve Palsy|Total Third-Nerve Palsy Eye disease|Nervous system disease Oculomotor Nerve Injuries MESH:D061220 Traumatic injuries to the OCULOMOTOR NERVE. This may result in various eye movement dysfunction. MESH:D015840|MESH:D020209 C10.292.200.656|C10.292.562.700.500|C10.900.300.218.456|C11.590.436.600|C26.915.300.400.518 C10.292.200|C10.292.562.700|C10.900.300.218|C11.590.436|C26.915.300.400 Avulsion, Oculomotor Nerve|Avulsions, Oculomotor Nerve|Contusion, Oculomotor Nerve|Contusions, Oculomotor Nerve|Cranial Nerve III Injury|Injuries, Oculomotor Nerve|Injury, Cranial Nerve III|Injury, Oculomotor Nerve|Injury, Third Cranial Nerve|Nerve Avulsion, Oculomotor|Nerve Avulsions, Oculomotor|Nerve Contusion, Oculomotor|Nerve Contusions, Oculomotor|Nerve Injuries, Oculomotor|Nerve Injury, Oculomotor|Nerve Transection, Oculomotor|Nerve Transections, Oculomotor|Nerve Trauma, Oculomotor|Nerve Traumas, Oculomotor|Neuropathies, Traumatic Oculomotor|Neuropathy, Traumatic Oculomotor|Oculomotor Nerve Avulsion|Oculomotor Nerve Avulsions|Oculomotor Nerve Contusion|Oculomotor Nerve Contusions|Oculomotor Nerve Injury|Oculomotor Nerve Transection|Oculomotor Nerve Transections|Oculomotor Nerve Trauma|Oculomotor Nerve Traumas|Oculomotor Neuropathies, Traumatic|Oculomotor Neuropathy, Traumatic|Palsies, Traumatic Third-Nerve|Palsy, Traumatic Third-Nerve|Third Cranial Nerve Injuries|Third Cranial Nerve Injury|Third-Nerve Palsies, Traumatic|Third Nerve Palsy, Traumatic|Third-Nerve Palsy, Traumatic|Third Nerve Trauma|Third-Nerve Trauma|Third-Nerve Traumas|Transection, Oculomotor Nerve|Transections, Oculomotor Nerve|Trauma, Oculomotor Nerve|Traumas, Oculomotor Nerve|Traumas, Third-Nerve|Trauma, Third-Nerve|Traumatic Oculomotor Neuropathies|Traumatic Oculomotor Neuropathy|Traumatic Third-Nerve Palsies|Traumatic Third Nerve Palsy|Traumatic Third-Nerve Palsy Eye disease|Nervous system disease|Wounds and injuries Oculootofacial Dysplasia MESH:C563682 MESH:D001006|MESH:D006344|MESH:D019465 C05.660.207/C563682|C06.198.050/C563682|C14.240.400.560.375/C563682|C14.280.400.560.375/C563682|C16.131.240.400.560.375/C563682|C16.131.314.094/C563682|C16.131.621.207/C563682 C05.660.207|C06.198.050|C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375|C16.131.314.094|C16.131.621.207 Cardiovascular disease|Congenital abnormality|Digestive system disease|Musculoskeletal disease Oculootoradial syndrome MESH:C535544 DO:DOID:0111381|OMIM:147750 MESH:D000015|MESH:D001006|MESH:D006228|MESH:D006312|MESH:D009886|MESH:D013921 C05.390.408/C535544|C05.660.585.988.425/C535544|C06.198.050/C535544|C09.218.458.341.374/C535544|C10.292.562.750/C535544|C10.597.622.447/C535544|C10.597.751.418.341.374/C535544|C11.590.472/C535544|C15.378.140.855/C535544|C16.131.077/C535544|C16.131.314.094/C535544|C16.131.621.585.988.500/C535544|C23.888.592.636.447/C535544|C23.888.592.763.393.341.374/C535544 C05.390.408|C05.660.585.988.425|C06.198.050|C09.218.458.341.374|C10.292.562.750|C10.597.622.447|C10.597.751.418.341.374|C11.590.472|C15.378.140.855|C16.131.077|C16.131.314.094|C16.131.621.585.988.500|C23.888.592.636.447|C23.888.592.763.393.341.374 Instituto Venezolano de Investigaciones Cientificas syndrome|IVIC|IVIC SYNDROME|OCULOOTORADIAL SYNDROME|Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Blood disease|Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Oculopalatocerebral Syndrome MESH:C564935 OMIM:257910 MESH:D000015|MESH:D002972|MESH:D004392|MESH:D005124|MESH:D008831 C05.116.099.343/C564935|C05.500.460.185/C564935|C05.660.207.540.460.185/C564935|C05.660.207.620/C564935|C07.320.440.185/C564935|C07.465.525.185/C564935|C07.650.500.460.185/C564935|C07.650.525.185/C564935|C10.500.507.400.500/C564935|C11.250/C564935|C16.131.077/C564935|C16.131.384/C564935|C16.131.621.207.540.460.185/C564935|C16.131.621.207.620/C564935|C16.131.666.507.400.500/C564935|C16.131.850.500.460.185/C564935|C16.131.850.525.185/C564935|C16.320.240/C564935|C19.297/C564935 C05.116.099.343|C05.500.460.185|C05.660.207.540.460.185|C05.660.207.620|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.500.507.400.500|C11.250|C16.131.077|C16.131.384|C16.131.621.207.540.460.185|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.240|C19.297 Oculopalatocerebral Dwarfism|OPC DWARFISM Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Nervous system disease Oculopalatoskeletal syndrome MESH:C537738 OMIM:257920 MESH:D003398|MESH:D005124 C05.116.099.370.894.232/C537738|C05.660.207.240/C537738|C05.660.906.364/C537738|C11.250/C537738|C16.131.384/C537738|C16.131.621.207.240/C537738|C16.131.621.906.364/C537738 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C11.250|C16.131.384|C16.131.621.207.240|C16.131.621.906.364 3MC1|3MC SYNDROME 1|Craniosynostosis with lid anomalies|Michels syndrome|MICHELS SYNDROME, FORMERLY|OCULOPALATOSKELETAL SYNDROME Congenital abnormality|Eye disease|Musculoskeletal disease Oculopharyngodistal Myopathy MESH:C563508 MESH:D009136 C05.651.534.500/C563508|C10.668.491.175.500/C563508|C16.320.577/C563508 C05.651.534.500|C10.668.491.175.500|C16.320.577 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Oculorenocerebellar syndrome MESH:C537739 MESH:D000015|MESH:D005124 C11.250/C537739|C16.131.077/C537739|C16.131.384/C537739 C11.250|C16.131.077|C16.131.384 Congenital abnormality|Eye disease Oculotrichodysplasia MESH:C564934 MESH:D006201|MESH:D009264|MESH:D012174|MESH:D012873|MESH:D014071 C07.650.800/C564934|C07.793.700/C564934|C11.270.684/C564934|C11.768.585.658.500/C564934|C16.131.850.800/C564934|C16.320.290.684/C564934|C16.320.850/C564934|C17.800.329/C564934|C17.800.827/C564934|C23.300.820/C564934 C07.650.800|C07.793.700|C11.270.684|C11.768.585.658.500|C16.131.850.800|C16.320.290.684|C16.320.850|C17.800.329|C17.800.827|C23.300.820 Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Pathology (anatomical condition)|Skin disease O'Donnell Pappas syndrome MESH:C537858 OMIM:136520 MESH:D002386|MESH:D003317|MESH:D020417 C10.292.562.675.300/C537858|C11.204.236/C537858|C11.270.162/C537858|C11.510.245/C537858|C11.590.400.300/C537858|C16.320.290.162/C537858|C16.614.643/C537858 C10.292.562.675.300|C11.204.236|C11.270.162|C11.510.245|C11.590.400.300|C16.320.290.162|C16.614.643 FOVEAL HYPOPLASIA 1|FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT|Foveal Hypoplasia and Presenile Cataract Syndrome|Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts|Foveal hypoplasia, presenile cataract|FVH1 Eye disease|Genetic disease (inborn)|Infant-newborn disease|Nervous system disease Odontodysplasia MESH:D018126 A localized arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp and the enamel is thin and absent in part. (Jablonski, Illustrated Dictionary of Dentistry, 1982) MESH:D014071 C07.650.800.600|C07.793.700.600|C16.131.850.800.600 C07.650.800|C07.793.700|C16.131.850.800 Dysplasia, Odontogenic|Dysplasias, Odontogenic|Ghost Teeth|Ghost Tooth|Odontodysplasias|Odontogenesis Imperfecta|Odontogenic Dysplasia|Odontogenic Dysplasias|Teeth, Ghost|Tooth, Ghost Congenital abnormality|Mouth disease Odontogenic Cyst, Calcifying MESH:D018333 A mixed radiolucent-radiopaque lesion of the jaws with features of both a cyst and a solid neoplasm. It is characterized microscopically by an epithelial lining showing a palisaded layer of columnar basal cells, presence of ghost cell keratinization, dentinoid, and calcification. (Stedman, 25th ed) MESH:D009807|MESH:D009808 C04.182.089.530.690.605|C04.557.695.605|C05.500.470.690.605|C07.320.450.670.495 C04.182.089.530.690|C04.557.695|C05.500.470.690|C07.320.450.670 Calcifying Odontogenic Cyst|Calcifying Odontogenic Cysts|Cyst, Calcifying Odontogenic|Cysts, Calcifying Odontogenic|Odontogenic Cysts, Calcifying Cancer|Mouth disease|Musculoskeletal disease Odontogenic Cysts MESH:D009807 Cysts found in the jaws and arising from epithelium involved in tooth formation. They include follicular cysts (e.g., primordial cyst, dentigerous cyst, multilocular cyst), lateral periodontal cysts, and radicular cysts. They may become keratinized (odontogenic keratocysts). Follicular cysts may give rise to ameloblastomas and, in rare cases, undergo malignant transformation. MESH:D007570 C04.182.089.530.690|C05.500.470.690|C07.320.450.670 C04.182.089.530|C05.500.470|C07.320.450 Cyst, Odontogenic|Cysts, Odontogenic|Keratocyst|Keratocysts|Odontogenic Cyst Cancer|Mouth disease|Musculoskeletal disease Odontogenic Tumors MESH:D009808 Neoplasms produced from tooth-forming tissues. MESH:D009370 C04.557.695 C04.557 Dental Tissue Neoplasm|Dental Tissue Neoplasms|Neoplasm, Dental Tissue|Neoplasms, Dental Tissue|Odontogenic Tumor|Tissue Neoplasm, Dental|Tissue Neoplasms, Dental|Tumor, Odontogenic|Tumors, Odontogenic Cancer Odontogenic Tumor, Squamous MESH:D051527 A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez. MESH:D009808 C04.557.695.607 C04.557.695 Odontogenic Tumors, Squamous|Squamous Odontogenic Tumor|Squamous Odontogenic Tumors|Tumor, Squamous Odontogenic|Tumors, Squamous Odontogenic Cancer Odontohypophosphatasia MESH:C564146 MESH:D007014|MESH:D017001 C07.793.720/C564146|C16.320.565.618.482/C564146|C18.452.648.618.482/C564146 C07.793.720|C16.320.565.618.482|C18.452.648.618.482 Genetic disease (inborn)|Metabolic disease|Mouth disease Odontoma MESH:D009810 A mixed tumor of odontogenic origin, in which both the epithelial and mesenchymal cells exhibit complete differentiation, resulting in the formation of tooth structures. (Jablonski, Illustrated Dictionary of Dentistry, 1982) MESH:D009808 C04.557.695.610 C04.557.695 Ameloblastic Fibro-odontoma|Ameloblastic Fibro-odontomas|Compound Odontoma|Compound Odontomas|Fibroodontoma|Fibro Odontoma|Fibro-Odontoma|Fibro odontoma, Ameloblastic|Fibro-odontoma, Ameloblastic|Fibroodontomas|Fibro-Odontomas|Fibro-odontomas, Ameloblastic|Odontoma, Compound|Odontomas|Odontomas, Compound Cancer Odontoma dysphagia syndrome MESH:C537740 MESH:D003680|MESH:D009810 C04.557.695.610/C537740|C06.405.117.119/C537740|C09.775.174/C537740 C04.557.695.610|C06.405.117.119|C09.775.174 Boder syndrome|Odontoma-Dysphagia Syndrome|Odontomatosis (multiple odontomas) with dysphagia Cancer|Digestive system disease|Ear-nose-throat disease Odontomicronychial dysplasia MESH:C537741 MESH:D004476|MESH:D009260|MESH:D014071 C07.650.800/C537741|C07.793.700/C537741|C16.131.077.350/C537741|C16.131.831.350/C537741|C16.131.850.800/C537741|C16.320.850.250/C537741|C17.800.529/C537741|C17.800.804.350/C537741|C17.800.827.250/C537741 C07.650.800|C07.793.700|C16.131.077.350|C16.131.831.350|C16.131.850.800|C16.320.850.250|C17.800.529|C17.800.804.350|C17.800.827.250 Congenital abnormality|Genetic disease (inborn)|Mouth disease|Skin disease Odontoonychodermal dysplasia MESH:C537742 OMIM:257980 MESH:D004476|MESH:D018126 C07.650.800.600/C537742|C07.793.700.600/C537742|C16.131.077.350/C537742|C16.131.831.350/C537742|C16.131.850.800.600/C537742|C16.320.850.250/C537742|C17.800.804.350/C537742|C17.800.827.250/C537742 C07.650.800.600|C07.793.700.600|C16.131.077.350|C16.131.831.350|C16.131.850.800.600|C16.320.850.250|C17.800.804.350|C17.800.827.250 ECTD16|ECTODERMAL DYSPLASIA 16, HYPO- OR HYPERHIDROTIC/HAIR/TOOTH/NAIL TYPE|OODD Congenital abnormality|Genetic disease (inborn)|Mouth disease|Skin disease Odontotrichoungual-Digital-Palmar Syndrome MESH:C566598 MESH:D004476|MESH:D005532|MESH:D006228|MESH:D014071 C05.330.495/C566598|C05.390.408/C566598|C05.660.585.512.380/C566598|C05.660.585.988.425/C566598|C07.650.800/C566598|C07.793.700/C566598|C16.131.077.350/C566598|C16.131.621.585.512.500/C566598|C16.131.621.585.988.500/C566598|C16.131.831.350/C566598|C16.131.850.800/C566598|C16.320.850.250/C566598|C17.800.804.350/C566598|C17.800.827.250/C566598 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C07.650.800|C07.793.700|C16.131.077.350|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.131.831.350|C16.131.850.800|C16.320.850.250|C17.800.804.350|C17.800.827.250 Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Oesophagostomiasis MESH:D009814 DO:DOID:3983 Infection of the intestinal tract with worms of the genus OESOPHAGOSTOMUM. This condition occurs mainly in animals other than man. MESH:D017206 C01.610.335.508.700.775.583 C01.610.335.508.700.775 Oesophagostomiases Parasitic disease OGDEN SYNDROME OMIM:300855 DO:DOID:0050781 MESH:C536107|MESH:D002658|MESH:D006130|MESH:D011596 C10.597.606.881/300855|C16.320.565/C536107/300855|C18.452.648/C536107/300855|C23.550.393/300855|C23.888.592.604.882/300855|F03.625.421/300855 C10.597.606.881|C16.320.565/C536107|C18.452.648/C536107|C23.550.393|C23.888.592.604.882|F03.625.421 NATD|N-TERMINAL ACETYLTRANSFERASE DEFICIENCY|OGDNS Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms Oguchi disease MESH:C537743 DO:DOID:0050534|DO:DOID:8498|OMIM:258100|OMIM:613411 MESH:D009755|MESH:D015785 C11.270/C537743|C11.966.671/C537743|C16.320.290/C537743 C11.270|C11.966.671|C16.320.290 CSNBO1|CSNBO2|NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1|NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2|Oguchi Disease 1|OGUCHI DISEASE 2|Stationary night blindness, Oguchi type Eye disease|Genetic disease (inborn) OI-EDS Combined Syndrome MESH:C565178 MESH:D004535|MESH:D010013 C05.116.099.708.685/C565178|C14.907.454.240/C565178|C15.378.463.515.240/C565178|C16.131.831.428/C565178|C16.320.737/C565178|C16.320.850.260/C565178|C17.300.200.310/C565178|C17.300.200.540/C565178|C17.800.804.428/C565178|C17.800.827.260/C565178 C05.116.099.708.685|C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.737|C16.320.850.260|C17.300.200.310|C17.300.200.540|C17.800.804.428|C17.800.827.260 Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME OMIM:617062 MESH:D008607|MESH:D011596|MESH:D013064 C10.597.606.150.500.800/617062|C10.597.606.360/617062|C10.597.606.881/617062|C23.888.592.604.150.500.800/617062|C23.888.592.604.646/617062|C23.888.592.604.882/617062|F03.625.539/617062 C10.597.606.150.500.800|C10.597.606.360|C10.597.606.881|C23.888.592.604.150.500.800|C23.888.592.604.646|C23.888.592.604.882|F03.625.539 OCNDS Mental disorder|Nervous system disease|Signs and symptoms Olecranon Fracture MESH:D000092470 Fractures of the OLECRANON PROCESS at the ELBOW JOINT. MESH:D000092482|MESH:D014458 C26.088.134.500.750|C26.088.268.807.500|C26.404.020.250|C26.404.937.773 C26.088.134.500|C26.088.268.807|C26.404.020|C26.404.937 Fracture, Olecranon|Fracture, Olecranon Process|Fractures of the Olecranon Process|Olecranon Fractures|Olecranon Process Fracture|Olecranon Process Fractures Wounds and injuries Olfaction Disorders MESH:D000857 Impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions. MESH:D012678 C10.597.751.600|C23.888.592.763.550 C10.597.751|C23.888.592.763 Cacosmia|Cacosmias|Dysfunction, Smell|Dysosmia|Dysosmias|Impaired Olfaction|Impaired Olfactions|Impairment, Olfactory|Olfaction Disorder|Olfaction, Impaired|Olfactions, Impaired|Olfactory Impairment|Paraosmia|Paraosmias|Parosmia|Parosmias|Phantosmia|Phantosmias|Smell Disorder|Smell Disorders|Smell Dysfunction Nervous system disease|Signs and symptoms Olfactory Nerve Diseases MESH:D020431 DO:DOID:367 Diseases of the first cranial (olfactory) nerve, which usually feature anosmia or other alterations in the sense of smell and taste. Anosmia may be associated with NEOPLASMS; CENTRAL NERVOUS SYSTEM INFECTIONS; CRANIOCEREBRAL TRAUMA; inherited conditions; toxins; METABOLIC DISEASES; tobacco abuse; and other conditions. (Adams et al., Principles of Neurology, 6th ed, pp229-31) MESH:D003389 C10.292.650 C10.292 Cranial Nerve I Diseases|Cranial Nerve I Disorders|First Cranial Nerve Diseases|Olfactory Nerve Disease Nervous system disease Olfactory Nerve Injuries MESH:D061219 Traumatic injuries to the OLFACTORY NERVE. It may result in various olfactory dysfunction including a complete loss of smell. MESH:D020209|MESH:D020431 C10.292.200.687|C10.292.650.600|C10.900.300.218.487|C26.915.300.400.562 C10.292.200|C10.292.650|C10.900.300.218|C26.915.300.400 Avulsion, Olfactory Nerve|Avulsions, Olfactory Nerve|Contusion, Olfactory Nerve|Contusions, Olfactory Nerve|Cranial Nerve I Injury|First Cranial Nerve Injuries|First Cranial Nerve Injury|First-Nerve Palsies, Traumatic|First Nerve Palsy, Traumatic|First-Nerve Palsy, Traumatic|First Nerve Trauma|First-Nerve Trauma|First-Nerve Traumas|Injuries, Olfactory Nerve|Injury, Cranial Nerve I|Injury, First Cranial Nerve|Injury, Olfactory Nerve|Nerve Avulsion, Olfactory|Nerve Avulsions, Olfactory|Nerve Contusion, Olfactory|Nerve Contusions, Olfactory|Nerve Injuries, Olfactory|Nerve Injury, Olfactory|Nerve Transection, Olfactory|Nerve Transections, Olfactory|Nerve Trauma, Olfactory|Nerve Traumas, Olfactory|Neuropathies, Traumatic Olfactory|Neuropathy, Traumatic Olfactory|Olfactory Nerve Avulsion|Olfactory Nerve Avulsions|Olfactory Nerve Contusion|Olfactory Nerve Contusions|Olfactory Nerve Injury|Olfactory Nerve Transection|Olfactory Nerve Transections|Olfactory Nerve Trauma|Olfactory Nerve Traumas|Olfactory Neuropathies, Traumatic|Olfactory Neuropathy, Traumatic|Palsies, Traumatic First-Nerve|Palsy, Traumatic First-Nerve|Transection, Olfactory Nerve|Transections, Olfactory Nerve|Trauma, First-Nerve|Trauma, Olfactory Nerve|Traumas, First-Nerve|Traumas, Olfactory Nerve|Traumatic First-Nerve Palsies|Traumatic First Nerve Palsy|Traumatic First-Nerve Palsy|Traumatic Olfactory Neuropathies|Traumatic Olfactory Neuropathy Nervous system disease|Wounds and injuries olfactory reference syndrome MESH:C000711529 MESH:D000072861 F03.080.725.500/C000711529 F03.080.725.500 autodysomophobia|bromosis|jikoshu kyofu|jikoshu-kyofu Mental disorder Oligodendroglioma MESH:D009837 DO:DOID:3181|DO:DOID:3183|DO:DOID:3186|DO:DOID:7912 A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655) MESH:D005910 C04.557.465.625.600.380.590|C04.557.470.670.380.590|C04.557.580.625.600.380.590 C04.557.465.625.600.380|C04.557.470.670.380|C04.557.580.625.600.380 Adult Oligodendroglioma|Adult Oligodendrogliomas|Anaplastic Oligodendroglioma|Anaplastic Oligodendrogliomas|Childhood Oligodendroglioma|Childhood Oligodendrogliomas|Mixed Oligodendroglioma Astrocytoma|Mixed Oligodendroglioma-Astrocytoma|Mixed Oligodendroglioma-Astrocytomas|Mixed Oligodendroglioma Ependymoma|Mixed Oligodendroglioma-Ependymoma|Mixed Oligodendroglioma-Ependymomas|Oligodendroblastoma|Oligodendroblastomas|Oligodendroglioma, Adult|Oligodendroglioma, Anaplastic|Oligodendroglioma-Astrocytoma, Mixed|Oligodendroglioma-Astrocytomas, Mixed|Oligodendroglioma, Childhood|Oligodendroglioma-Ependymoma, Mixed|Oligodendroglioma-Ependymomas, Mixed|Oligodendrogliomas|Oligodendrogliomas, Adult|Oligodendrogliomas, Anaplastic|Oligodendrogliomas, Childhood|Oligodendrogliomas, Well-Differentiated|Oligodendroglioma, Well Differentiated|Oligodendroglioma, Well-Differentiated|Well Differentiated Oligodendroglioma|Well-Differentiated Oligodendroglioma|Well-Differentiated Oligodendrogliomas Cancer Oligodontia-Colorectal Cancer Syndrome MESH:C563898 OMIM:608615 MESH:D000848|MESH:D015179 C04.588.274.476.411.307/C563898|C06.301.371.411.307/C563898|C06.405.249.411.307/C563898|C06.405.469.158.356/C563898|C06.405.469.491.307/C563898|C06.405.469.860.180/C563898|C07.650.800.100/C563898|C07.793.700.100/C563898|C16.131.850.800.100/C563898 C04.588.274.476.411.307|C06.301.371.411.307|C06.405.249.411.307|C06.405.469.158.356|C06.405.469.491.307|C06.405.469.860.180|C07.650.800.100|C07.793.700.100|C16.131.850.800.100 ODCRCS|Tooth Agenesis-Colorectal Cancer Syndrome Cancer|Congenital abnormality|Digestive system disease|Mouth disease Oligohydramnios MESH:D016104 DO:DOID:12215 A condition of abnormally low AMNIOTIC FLUID volume. Principal causes include malformations of fetal URINARY TRACT; FETAL GROWTH RETARDATION; GESTATIONAL HYPERTENSION; nicotine poisoning; and PROLONGED PREGNANCY. MESH:D011248 C12.050.703.560 C12.050.703 Pregnancy complication Oligomenorrhea MESH:D009839 Abnormally infrequent menstruation. MESH:D008599 C23.550.568.937 C23.550.568 Oligomenorrheas Pathology (process) Oligospermia MESH:D009845 DO:DOID:14228 A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. MESH:D007248 C12.100.500.430.508|C12.100.750.700.508|C12.200.294.430.508 C12.100.500.430|C12.100.750.700|C12.200.294.430 Cryptospermia|Cryptospermias|Cryptozoospermia|Cryptozoospermias|Hypospermatogeneses|Hypospermatogenesis|Low Sperm Count|Low Sperm Counts|Oligoasthenoteratozoospermia|Oligoasthenoteratozoospermias|Oligozoospermia|Sperm Count, Low|Sperm Counts, Low Urogenital disease (male) Oligosynaptic Infertility MESH:C562902 MESH:D007248 C12.100.500.430/C562902|C12.100.750.700/C562902|C12.200.294.430/C562902 C12.100.500.430|C12.100.750.700|C12.200.294.430 Oligochiasmic Infertility Urogenital disease (male) Oliguria MESH:D009846 Decreased URINE output that is below the normal range. Oliguria can be defined as urine output of less than or equal to 0.5 or 1 ml/kg/hr depending on the age. MESH:D014555|MESH:D020924 C12.050.351.968.934.600|C12.200.777.934.600|C12.950.934.600|C23.888.942.400 C12.050.351.968.934|C12.200.777.934|C12.950.934|C23.888.942 Oligurias Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Oliver-McFarlane syndrome MESH:C536554 DO:DOID:0111271|OMIM:275400 MESH:D001763|MESH:D002658|MESH:D004392|MESH:D006983|MESH:D008607|MESH:D012174 C05.116.099.343/C536554|C10.597.606.360/C536554|C11.270.684/C536554|C11.338.204/C536554|C11.768.585.658.500/C536554|C16.320.240/C536554|C16.320.290.684/C536554|C17.800.329.875/C536554|C19.297/C536554|C23.888.592.604.646/C536554|F03.625.421/C536554|F03.625.539/C536554 C05.116.099.343|C10.597.606.360|C11.270.684|C11.338.204|C11.768.585.658.500|C16.320.240|C16.320.290.684|C17.800.329.875|C19.297|C23.888.592.604.646|F03.625.421|F03.625.539 Congenital trichomegaly, pigmentary retinal degeneration, and short stature|Eyelashes long mental retardation|EYELASHES, LONG, WITH MENTAL RETARDATION|Oliver McFarlane syndrome|OMCS|Trichomegaly retina pigmentary degeneration dwarfism|TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA Endocrine system disease|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Oliver Syndrome MESH:C564931 MESH:D008607|MESH:D017689 C05.660.585.600/C564931|C10.597.606.360/C564931|C16.131.621.585.600/C564931|C23.888.592.604.646/C564931|F03.625.539/C564931 C05.660.585.600|C10.597.606.360|C16.131.621.585.600|C23.888.592.604.646|F03.625.539 Postaxial Polydactyly and Mental Retardation Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Olivopontocerebellar Atrophies MESH:D009849 DO:DOID:14784 A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085) MESH:D013132|MESH:D019578 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 C10.177.575.550|C10.228.140.079.612|C10.228.140.252.700|C10.228.662.550|C10.228.854.787|C10.574.500.825|C16.320.400.780 Ataxia, Presenile|Ataxias, Presenile|Atrophy, Familial Olivopontocerebellar|Atrophy, Idiopathic Olivopontocerebellar|Atrophy, Inherited Olivopontocerebellar|Atrophy, Nonfamilial Olivopontocerebellar|Atrophy, Olivopontocerebellar|Atrophy, Olivo-Ponto-Cerebellar|Atrophy, Pontoolivocerebellar|Degeneration, Olivopontocerebellar|Degeneration, Olivo-Ponto-Cerebellar|Degenerations, Olivopontocerebellar|Degenerations, Olivo-Ponto-Cerebellar|Dejerine Thomas Syndrome|Dejerine-Thomas Syndrome|Familial Olivopontocerebellar Atrophies|Familial Olivopontocerebellar Atrophy|Idiopathic Olivopontocerebellar Atrophies|Idiopathic Olivopontocerebellar Atrophy|Inherited Olivopontocerebellar Atrophies|Inherited Olivopontocerebellar Atrophy|Nonfamilial Olivopontocerebellar Atrophies|Nonfamilial Olivopontocerebellar Atrophy|Olivopontocerebellar Atrophies, Familial|Olivopontocerebellar Atrophies, Idiopathic|Olivopontocerebellar Atrophies, Inherited|Olivopontocerebellar Atrophies, Nonfamilial|Olivopontocerebellar Atrophy|Olivo Ponto Cerebellar Atrophy|Olivo-Ponto-Cerebellar Atrophy|Olivopontocerebellar Atrophy, Familial|Olivopontocerebellar Atrophy, Idiopathic|Olivopontocerebellar Atrophy, Inherited|Olivopontocerebellar Atrophy, Nonfamilial|Olivopontocerebellar Degeneration|Olivo Ponto Cerebellar Degeneration|Olivo-Ponto-Cerebellar Degeneration|Olivopontocerebellar Degenerations|Olivo-Ponto-Cerebellar Degenerations|Pontoolivocerebellar Atrophies|Pontoolivocerebellar Atrophy|Presenile Ataxia|Presenile Ataxias|Syndrome, Dejerine-Thomas Genetic disease (inborn)|Nervous system disease Olivopontocerebellar atrophy 1 MESH:C538626 MESH:D009849 C10.177.575.550.375/C538626|C10.228.140.079.612.600/C538626|C10.228.140.252.700.650/C538626|C10.228.662.550.600/C538626|C10.228.854.787.750/C538626|C10.574.500.825.650/C538626|C16.320.400.780.750/C538626 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 Menzel type Olivopontocerebellar atrophy|Olivopontocerebellar atrophy 4|Schut-Haymaker type Olivopontocerebellar atrophy|Spinocerebellar atrophy 1 Genetic disease (inborn)|Nervous system disease Olivopontocerebellar atrophy 3 MESH:C538631 MESH:D009849 C10.177.575.550.375/C538631|C10.228.140.079.612.600/C538631|C10.228.140.252.700.650/C538631|C10.228.662.550.600/C538631|C10.228.854.787.750/C538631|C10.574.500.825.650/C538631|C16.320.400.780.750/C538631 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 Genetic disease (inborn)|Nervous system disease Olivopontocerebellar Atrophy II, Autosomal Recessive MESH:C564930 MESH:D009849 C10.177.575.550.375/C564930|C10.228.140.079.612.600/C564930|C10.228.140.252.700.650/C564930|C10.228.662.550.600/C564930|C10.228.854.787.750/C564930|C10.574.500.825.650/C564930|C16.320.400.780.750/C564930 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 OPCA II, Fickler-Winkler Type Genetic disease (inborn)|Nervous system disease Olivopontocerebellar Atrophy V MESH:C563505 MESH:D009849 C10.177.575.550.375/C563505|C10.228.140.079.612.600/C563505|C10.228.140.252.700.650/C563505|C10.228.662.550.600/C563505|C10.228.854.787.750/C563505|C10.574.500.825.650/C563505|C16.320.400.780.750/C563505 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 OPCA with Dementia and Extrapyramidal Signs Genetic disease (inborn)|Nervous system disease Olivopontocerebellar hypoplasia, fetal-onset MESH:C537745 DO:DOID:0060274 MESH:D009849 C10.177.575.550.375/C537745|C10.228.140.079.612.600/C537745|C10.228.140.252.700.650/C537745|C10.228.662.550.600/C537745|C10.228.854.787.750/C537745|C10.574.500.825.650/C537745|C16.320.400.780.750/C537745 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 Pontocerebellar hypoplasia, type 5|Pontocerebellar Hypoplasia Type 5 Genetic disease (inborn)|Nervous system disease OLMSTED SYNDROME 1 OMIM:614594 DO:DOID:0112013 MESH:D007645 C16.320.850.475/614594|C17.800.428.435/614594|C17.800.827.475/614594 C16.320.850.475|C17.800.428.435|C17.800.827.475 OLMS1|PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES 1|PPKM1 Genetic disease (inborn)|Skin disease OLMSTED SYNDROME, X-LINKED OMIM:300918 DO:DOID:0112012 MESH:D007645 C16.320.850.475/300918|C17.800.428.435/300918|C17.800.827.475/300918 C16.320.850.475|C17.800.428.435|C17.800.827.475 OLMSX|PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED|PPKMX Genetic disease (inborn)|Skin disease Omodysplasia 2 MESH:C567664 DO:DOID:0080845 MESH:D010009|MESH:D019066 C05.116.099.708/C567664|C16.320.728/C567664|C23.550.291.812/C567664 C05.116.099.708|C16.320.728|C23.550.291.812 OMOD2|Omodysplasia, Autosomal Dominant Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Omodysplasia type 1 MESH:C537746 DO:DOID:0080844|OMIM:258315 MESH:D006130|MESH:D010009 C05.116.099.708/C537746|C16.320.728/C537746|C23.550.393/C537746 C05.116.099.708|C16.320.728|C23.550.393 MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS|OMOD1|Omodysplasia 1|Omodysplasia, Autosomal Recessive|Omodysplasia autosomal recessive form|Omodysplasia generalized form|Omodysplasia, Generalized Form|Omodysplasia (Maroteaux) Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Omphalocele cleft palate syndrome lethal MESH:C537747 MESH:D002972|MESH:D006554 C05.500.460.185/C537747|C05.660.207.540.460.185/C537747|C07.320.440.185/C537747|C07.465.525.185/C537747|C07.650.500.460.185/C537747|C07.650.525.185/C537747|C16.131.621.207.540.460.185/C537747|C16.131.850.500.460.185/C537747|C16.131.850.525.185/C537747|C16.614.378/C537747|C23.300.707.374.937.500/C537747 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.614.378|C23.300.707.374.937.500 Cleft palate-omphalocele syndrome, lethal|Lethal omphalocele-cleft palate syndrome|Omphalocele-Cleft Palate Syndrome, Lethal Congenital abnormality|Infant-newborn disease|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition) Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects MESH:C563701 MESH:D006554|MESH:D015785|MESH:D065630 C11.270/C563701|C16.131.433/C563701|C16.320.290/C563701|C16.614.378/C563701|C23.300.707.374.937.500/C563701|C23.300.707.960.500.116/C563701 C11.270|C16.131.433|C16.320.290|C16.614.378|C23.300.707.374.937.500|C23.300.707.960.500.116 Gershoni-Baruch Syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Infant-newborn disease|Pathology (anatomical condition) Omphalocele exstrophy imperforate anus MESH:C537748 MESH:D001006|MESH:D006554|MESH:D012600|MESH:D014564 C05.116.900.800.875/C537748|C06.198.050/C537748|C12.050.351.875/C537748|C12.200.706/C537748|C12.800/C537748|C16.131.314.094/C537748|C16.131.939/C537748|C16.614.378/C537748|C23.300.707.374.937.500/C537748 C05.116.900.800.875|C06.198.050|C12.050.351.875|C12.200.706|C12.800|C16.131.314.094|C16.131.939|C16.614.378|C23.300.707.374.937.500 OEIS complex|Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects|Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects Congenital abnormality|Digestive system disease|Infant-newborn disease|Musculoskeletal disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Onat syndrome MESH:C537749 MESH:D001024|MESH:D006130 C14.280.484.048.750/C537749|C14.280.955.249/C537749|C23.550.393/C537749 C14.280.484.048.750|C14.280.955.249|C23.550.393 Subaortic stenosis short stature syndrome|Subaortic Stenosis--Short Stature Syndrome Cardiovascular disease|Pathology (process) Onchocerciasis MESH:D009855 DO:DOID:11678 Infection with nematodes of the genus ONCHOCERCA. Characteristics include the presence of firm subcutaneous nodules filled with adult worms, PRURITUS, and ocular lesions. MESH:D005368|MESH:D012876 C01.610.335.508.700.750.361.699|C01.610.858.650|C17.800.838.775.690 C01.610.335.508.700.750.361|C01.610.858|C17.800.838.775 Onchocerciases Parasitic disease|Skin disease Onchocerciasis, Ocular MESH:D015827 Filarial infection of the eyes transmitted from person to person by bites of Onchocerca volvulus-infected black flies. The microfilariae of Onchocerca are thus deposited beneath the skin. They migrate through various tissues including the eye. Those persons infected have impaired vision and up to 20% are blind. The incidence of eye lesions has been reported to be as high as 30% in Central America and parts of Africa. MESH:D000079426|MESH:D009855|MESH:D015822 C01.610.300.562|C01.610.335.508.700.750.361.699.500|C01.920.891|C11.294.725.562 C01.610.300|C01.610.335.508.700.750.361.699|C01.920|C11.294.725 Blindness, River|Ocular Onchocerciases|Ocular Onchocerciasis|Onchocerciases, Ocular|River Blindness Eye disease|Parasitic disease Oncocytoma, renal MESH:C537750 DO:DOID:6245 MESH:D007680|MESH:D018249 C04.557.470.035.140/C537750|C04.588.945.947.535/C537750|C12.050.351.937.820.535/C537750|C12.050.351.968.419.473/C537750|C12.200.758.820.750/C537750|C12.200.777.419.473/C537750|C12.900.820.535/C537750|C12.950.419.473/C537750|C12.950.983.535/C537750 C04.557.470.035.140|C04.588.945.947.535|C12.050.351.937.820.535|C12.050.351.968.419.473|C12.200.758.820.750|C12.200.777.419.473|C12.900.820.535|C12.950.419.473|C12.950.983.535 Renal oncocytoma Cancer|Urogenital disease (female)|Urogenital disease (male) Oncogene Addiction MESH:D000074723 The dependence of tumor cells on a single oncogenic pathway or protein for their continued proliferation and survival. MESH:D009385 C04.697.850|C23.550.727.850 C04.697|C23.550.727 Addiction, Oncogene|Addiction, Oncogenic|Oncogenic Addiction Cancer|Pathology (process) Oncogenic osteomalacia MESH:C537751 MESH:D010018|MESH:D010257 C04.730/C537751|C05.116.198.816.640/C537751|C18.452.104.816.640/C537751|C18.452.174.845.640/C537751|C18.654.521.500.133.770.734.640/C537751 C04.730|C05.116.198.816.640|C18.452.104.816.640|C18.452.174.845.640|C18.654.521.500.133.770.734.640 Tumor-induced osteomalacia Cancer|Metabolic disease|Musculoskeletal disease|Nutrition disorder Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair MESH:C563506 MESH:D006201|MESH:D009260|MESH:D012873 C16.320.850/C563506|C17.800.329/C563506|C17.800.529/C563506|C17.800.827/C563506 C16.320.850|C17.800.329|C17.800.529|C17.800.827 Genetic disease (inborn)|Skin disease Onycholysis MESH:D054039 Separation of nail plate from the underlying nail bed. It can be a sign of skin disease, infection (such as ONYCHOMYCOSIS) or tissue injury. MESH:D009260 C17.800.529.478 C17.800.529 Onycholyses|Photo-onycholyses|Photo onycholysis|Photo-onycholysis Skin disease Onycholysis, Partial, with Scleronychia MESH:C563503 MESH:D009264|MESH:D054039 C17.800.529.478/C563503|C23.300.820/C563503 C17.800.529.478|C23.300.820 Pathology (anatomical condition)|Skin disease Onychomycosis MESH:D014009 A fungal infection of the nail, usually caused by DERMATOPHYTES; YEASTS; or nondermatophyte MOLDS. MESH:D009260|MESH:D014005 C01.150.703.302.720.550|C01.800.200.720.550|C17.800.529.550|C17.800.838.208.883.458 C01.150.703.302.720|C01.800.200.720|C17.800.529|C17.800.838.208.883 Fungus, Nail|Nail Fungus|Onychomycoses|Tinea Unguium Bacterial infection or mycosis|Skin disease Onychotrichodysplasia and neutropenia MESH:C537752 MESH:D008607|MESH:D009264|MESH:D009503 C10.597.606.360/C537752|C15.378.553.546.184.564/C537752|C23.300.820/C537752|C23.888.592.604.646/C537752|F03.625.539/C537752 C10.597.606.360|C15.378.553.546.184.564|C23.300.820|C23.888.592.604.646|F03.625.539 Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome Blood disease|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1 OMIM:615774 MESH:D007247 C12.050.351.500.498/615774|C12.100.250.498/615774|C12.100.750.350/615774 C12.050.351.500.498|C12.100.250.498|C12.100.750.350 OOCYTE MATURATION DEFECT 1|OOMD|OOMD1|OZEMA1 Urogenital disease (female) OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15 OMIM:616814 MESH:D007247|MESH:D020964 C12.050.351.500.498/616814|C12.050.703.039.711/616814|C12.100.250.498/616814|C12.100.750.350/616814|C23.550.260.440/616814 C12.050.351.500.498|C12.050.703.039.711|C12.100.250.498|C12.100.750.350|C23.550.260.440 OZEMA15|PREIMPLANTATION EMBRYONIC LETHALITY 1|PREMBL|PREMBL1 Pathology (process)|Pregnancy complication|Urogenital disease (female) OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16 OMIM:617234 MESH:D007247|MESH:D020964 C12.050.351.500.498/617234|C12.050.703.039.711/617234|C12.100.250.498/617234|C12.100.750.350/617234|C23.550.260.440/617234 C12.050.351.500.498|C12.050.703.039.711|C12.100.250.498|C12.100.750.350|C23.550.260.440 OZEMA16|PREIMPLANTATION EMBRYONIC LETHALITY 2|PREMBL2 Pathology (process)|Pregnancy complication|Urogenital disease (female) OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2 OMIM:616780 MESH:D007247 C12.050.351.500.498/616780|C12.100.250.498/616780|C12.100.750.350/616780 C12.050.351.500.498|C12.100.250.498|C12.100.750.350 OOCYTE MATURATION DEFECT 2|OOMD2|OZEMA2 Urogenital disease (female) Oophoritis MESH:D009869 DO:DOID:10974 Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix. MESH:D000292|MESH:D010049 C12.050.351.500.056.630.450|C12.050.351.500.056.750.500|C12.100.250.056.630.450|C12.100.250.056.750.500|C19.391.630.450 C12.050.351.500.056.630|C12.050.351.500.056.750|C12.100.250.056.630|C12.100.250.056.750|C19.391.630 Oophoritides Endocrine system disease|Urogenital disease (female) Open Bite MESH:D024343 A condition in which certain opposing teeth fail to establish occlusal contact when the jaws are closed. MESH:D008310 C07.793.494.825 C07.793.494 Apertognathia|Bite, Open|Nonocclusion|Openbite Mouth disease Ophidiophobia MESH:C000719210 MESH:D010698 F03.080.725/C000719210 F03.080.725 Batrachophobia|Fear of amphibians|Fear of reptiles|Fear of snakes|Herpetophobia|Phobia, amphibians|Phobia, reptiles|Phobia, snakes Mental disorder Ophthalmia Neonatorum MESH:D009878 Acute conjunctival inflammation in the newborn, usually caused by maternal gonococcal infection. The causative agent is NEISSERIA GONORRHOEAE. The baby's eyes are contaminated during passage through the birth canal. MESH:D003234|MESH:D007232|MESH:D016870 C01.150.252.289.225.625|C01.150.252.400.625.774|C01.375.354.220.625|C11.187.183.220.538|C11.294.354.220.625|C16.614.677 C01.150.252.289.225|C01.150.252.400.625|C01.375.354.220|C11.187.183.220|C11.294.354.220|C16.614 Bacterial infection or mycosis|Eye disease|Infant-newborn disease Ophthalmia, Sympathetic MESH:D009879 DO:DOID:12029 Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye. MESH:D001327|MESH:D015864 C11.941.879.780.500|C20.111.709 C11.941.879.780|C20.111 Ophthalmias, Sympathetic|Sympathetic Ophthalmia|Sympathetic Ophthalmias|Sympathetic Uveitides|Sympathetic Uveitis|Uveitides, Sympathetic|Uveitis, Sympathetic Eye disease|Immune system disease Ophthalmomandibulomelic Dysplasia MESH:C563501 MESH:D007569|MESH:D015785|MESH:D038062 C05.500.460/C563501|C05.660.207.540.460/C563501|C05.660.585.988/C563501|C07.320.440/C563501|C07.650.500.460/C563501|C11.270/C563501|C16.131.621.207.540.460/C563501|C16.131.621.585.988/C563501|C16.131.850.500.460/C563501|C16.320.290/C563501 C05.500.460|C05.660.207.540.460|C05.660.585.988|C07.320.440|C07.650.500.460|C11.270|C16.131.621.207.540.460|C16.131.621.585.988|C16.131.850.500.460|C16.320.290 Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Ophthalmoplegia MESH:D009886 DO:DOID:539 Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles. MESH:D010243|MESH:D015835 C10.292.562.750|C10.597.622.447|C11.590.472|C23.888.592.636.447 C10.292.562|C10.597.622|C11.590|C23.888.592.636 External Ophthalmoplegia|External Ophthalmoplegias|Internal Ophthalmoplegia|Internal Ophthalmoplegias|Oculomotor Paralysis|Ophthalmopareses|Ophthalmoparesis|Ophthalmoplegia, External|Ophthalmoplegia, Internal|Ophthalmoplegias|Ophthalmoplegias, External|Ophthalmoplegias, Internal|Paralysis, Oculomotor Eye disease|Nervous system disease|Signs and symptoms Ophthalmoplegia, Chronic Progressive External MESH:D017246 DO:DOID:12558 A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) MESH:D002908|MESH:D009886|MESH:D017240 C05.651.460.700|C10.292.562.750.250|C10.597.622.447.511|C10.668.491.500.700|C11.590.472.250|C18.452.660.560.700|C23.550.291.500.688|C23.888.592.636.447.511 C05.651.460|C10.292.562.750|C10.597.622.447|C10.668.491.500|C11.590.472|C18.452.660.560|C23.550.291.500|C23.888.592.636.447 Chronic Progressive External Ophthalmoplegia|CPEO|Disease, Graefe|Dystrophy, Ocular Muscular|External Ophthalmoplegia, Progressive|Graefe Disease|Graefe's Disease|Mitochondrial Ocular Myopathy|Muscular Dystrophies, Ocular|Muscular Dystrophy, Ocular|Myopathy, Mitochondrial Ocular|Ocular Muscular Dystrophies|Ocular Muscular Dystrophy|Ocular Myopathy, Mitochondrial|Ocular Myopathy of Von Graefe Fuchs|Ocular Myopathy of Von Graefe-Fuchs|Ophthalmoplegia, Progressive External|Progressive External Ophthalmoplegia Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Ophthalmoplegia, External, and Myopia MESH:C564087 OMIM:311000 MESH:D009216|MESH:D009886|MESH:D040181 C10.292.562.750/C564087|C10.597.622.447/C564087|C11.590.472/C564087|C11.744.636/C564087|C16.320.322/C564087|C23.888.592.636.447/C564087 C10.292.562.750|C10.597.622.447|C11.590.472|C11.744.636|C16.320.322|C23.888.592.636.447 Myopia-Ophthalmoplegia Syndrome|OPEM Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Ophthalmoplegia, Familial Static MESH:C563500 MESH:D009886 C10.292.562.750/C563500|C10.597.622.447/C563500|C11.590.472/C563500|C23.888.592.636.447/C563500 C10.292.562.750|C10.597.622.447|C11.590.472|C23.888.592.636.447 External Ophthalmoplegia, Congenital Hereditary Nonprogressive Eye disease|Nervous system disease|Signs and symptoms Ophthalmoplegia, Familial Total, with Iris Transillumination MESH:C563499 MESH:D009886 C10.292.562.750/C563499|C10.597.622.447/C563499|C11.590.472/C563499|C23.888.592.636.447/C563499 C10.292.562.750|C10.597.622.447|C11.590.472|C23.888.592.636.447 Eye disease|Nervous system disease|Signs and symptoms Ophthalmoplegia, painful MESH:C531833 MESH:D020333 C10.292.562.900/C531833|C11.590.905/C531833 C10.292.562.900|C11.590.905 Nonspecific inflammation of the cavernous sinus or superior orbital fissure Eye disease|Nervous system disease Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency MESH:C563498 MESH:D008607|MESH:D009886|MESH:D014063 C07.465.910.708/C563498|C10.292.562.750/C563498|C10.597.606.360/C563498|C10.597.622.447/C563498|C11.590.472/C563498|C23.888.592.604.646/C563498|C23.888.592.636.447/C563498|F03.625.539/C563498 C07.465.910.708|C10.292.562.750|C10.597.606.360|C10.597.622.447|C11.590.472|C23.888.592.604.646|C23.888.592.636.447|F03.625.539 Eye disease|Mental disorder|Mouth disease|Nervous system disease|Signs and symptoms Ophthalmoplegia Totalis with Ptosis and Miosis MESH:C564927 MESH:D001763|MESH:D009886|MESH:D015877 C10.292.562.750/C564927|C10.597.622.447/C564927|C10.597.690.362/C564927|C11.338.204/C564927|C11.590.472/C564927|C11.710.528/C564927|C23.888.592.636.447/C564927|C23.888.592.708.362/C564927 C10.292.562.750|C10.597.622.447|C10.597.690.362|C11.338.204|C11.590.472|C11.710.528|C23.888.592.636.447|C23.888.592.708.362 Eye disease|Nervous system disease|Signs and symptoms Ophthalmoplegic Migraine MESH:D060486 Childhood-onset of recurrent headaches with an oculomotor cranial nerve palsy. Typically, ABDUCENS NERVE; OCULOMOTOR NERVE; and TROCHLEAR NERVE are involved with DIPLOPIA and BLEPHAROPTOSIS. MESH:D003389|MESH:D003711|MESH:D008881|MESH:D009886 C10.228.140.546.399.750.725|C10.292.562.750.375|C10.292.675|C10.314.687|C10.597.622.447.600|C11.590.472.375|C23.888.592.636.447.600 C10.228.140.546.399.750|C10.292|C10.292.562.750|C10.314|C10.597.622.447|C11.590.472|C23.888.592.636.447 Migraine, Ophthalmoplegic|Migraines, Ophthalmoplegic|Migraine Syndrome, Ophthalmoplegic|Migraine Syndromes, Ophthalmoplegic|Ophthalmoplegic Migraines|Ophthalmoplegic Migraine Syndrome|Ophthalmoplegic Migraine Syndromes|Syndrome, Ophthalmoplegic Migraine|Syndromes, Ophthalmoplegic Migraine Eye disease|Nervous system disease|Signs and symptoms Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria MESH:C564925 MESH:D009135|MESH:D009886|MESH:D028361 C05.651/C564925|C10.292.562.750/C564925|C10.597.622.447/C564925|C10.668.491/C564925|C11.590.472/C564925|C18.452.660/C564925|C23.888.592.636.447/C564925 C05.651|C10.292.562.750|C10.597.622.447|C10.668.491|C11.590.472|C18.452.660|C23.888.592.636.447 Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Opiate Overdose MESH:D000083682 Accidental or deliberate use of an OPIOID in excess of normal dosage. It includes overdose for prescription and illicit opioids. MESH:D009293|MESH:D062787 C25.775.383.500|C25.775.643.500.700|F03.900.647.500.700 C25.775.383|C25.775.643.500|F03.900.647.500 Opiate Overdoses|Opioid Overdose|Opioid Overdoses|Overdose, Opiate|Overdose, Opioid Mental disorder|Substance-related disorder Opioid-Induced Constipation MESH:D000079689 CONSTIPATION associated with the use of OPIOIDS. MESH:D000079524|MESH:D003248 C23.888.821.150.500|C25.775.643.250|F03.900.647.250 C23.888.821.150|C25.775.643|F03.900.647 Bowel Dysfunction, Opioid-Induced|Bowel Syndrome, Narcotic|Constipation, Opiate-Induced|Constipation, Opioid-Induced|Dysfunction, Opioid-Induced Bowel|Narcotic Bowel Syndrome|Narcotic Bowel Syndromes|Opiate Induced Constipation|Opiate-Induced Constipation|Opiate-Induced Constipations|Opioid Induced Bowel Dysfunction|Opioid-Induced Bowel Dysfunction|Opioid-Induced Bowel Dysfunctions|Opioid Induced Constipation|Opioid-Induced Constipations Mental disorder|Signs and symptoms|Substance-related disorder Opioid-Related Disorders MESH:D009293 DO:DOID:11206|DO:DOID:2559|OMIM:610064 Disorders related to or resulting from abuse or misuse of OPIOIDS. MESH:D000079524 C25.775.643.500|F03.900.647.500 C25.775.643|F03.900.647 Abuse, Opiate|Abuse, Opioid|Abuse, Prescription Opioid|Addiction, Opiate|Addiction, Opioid|Dependence, Opiate|Dependence, Opioid|Disorder, Opioid Use|Misuse, Opioid|Misuse, Prescription Opioid|ODS1|Opiate Abuse|Opiate Abuses|Opiate Addiction|Opiate Dependence|Opioid Abuse|Opioid Abuse, Prescription|Opioid Abuses|Opioid Addiction|Opioid Addictions|Opioid Dependence|Opioid Dependences|OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1|Opioid Misuse|Opioid Misuses|Opioid-Related Disorder|Opioid Related Disorders|Opioid Use Disorder|Opioid Use Disorders|Prescription Opioid Abuse|Prescription Opioid Abuses|Prescription Opioid Misuse|Prescription Opioid Misuses Mental disorder|Substance-related disorder Opisthorchiasis MESH:D009889 DO:DOID:13768 Infection with flukes of the genus Opisthorchis. MESH:D014201 C01.610.335.865.685 C01.610.335.865 Infection, Opisthorchis|Infection, Opisthorchis felineus|Infection, Opisthorchis viverrini|Infections, Opisthorchis|Infections, Opisthorchis felineus|Infections, Opisthorchis viverrini|Opisthorchiases|Opisthorchis felineus Infection|Opisthorchis felineus Infections|Opisthorchis Infection|Opisthorchis Infections|Opisthorchis viverrini Infection|Opisthorchis viverrini Infections Parasitic disease Opitz GBBB Syndrome, X-Linked MESH:C567932 OMIM:300000 MESH:D002972|MESH:D006972|MESH:D007021|MESH:D040181 C05.116.099.370.231.480/C567932|C05.500.460.185/C567932|C05.660.207.231.480/C567932|C05.660.207.540.460.185/C567932|C07.320.440.185/C567932|C07.465.525.185/C567932|C07.650.500.460.185/C567932|C07.650.525.185/C567932|C12.050.351.875.466/C567932|C12.100.500.494.400/C567932|C12.200.294.494.400/C567932|C12.200.706.516/C567932|C12.800.516/C567932|C16.131.621.207.231.480/C567932|C16.131.621.207.540.460.185/C567932|C16.131.850.500.460.185/C567932|C16.131.850.525.185/C567932|C16.131.939.516/C567932|C16.320.322/C567932 C05.116.099.370.231.480|C05.500.460.185|C05.660.207.231.480|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.621.207.231.480|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.131.939.516|C16.320.322 BBBG1, FORMERLY|GBBB|GBBB1, FORMERLY|HYPERTELORISM-HYPOSPADIAS SYNDROME|HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS|OGS1, FORMERLY|Opitz BBBG Syndrome, Type I|OPITZ BBBG SYNDROME, TYPE I, FORMERLY|OPITZ GBBB SYNDROME|Opitz GBBB Syndrome, Type I|OPITZ GBBB SYNDROME, TYPE I, FORMERLY|OPITZ GBBB SYNDROME, X-LINKED|Opitz-G Syndrome, Type I|OPITZ-G SYNDROME, TYPE I, FORMERLY|Opitz Syndrome|Opitz Syndrome, X-Linked|OS|OSX|TELECANTHUS-HYPOSPADIAS SYNDROME|X-Linked Opitz Syndrome (XLOS) Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Opitz-Kaveggia syndrome MESH:C537923 DO:DOID:14711|OMIM:300321|OMIM:300406|OMIM:300422|OMIM:305450 MESH:D001006|MESH:D003248|MESH:D009123|MESH:D038901|MESH:D061085 C06.198.050/C537923|C10.500.034/C537923|C10.597.606.360.455/C537923|C10.597.613.575/C537923|C16.131.314.094/C537923|C16.131.666.034/C537923|C16.320.322.500/C537923|C16.320.400.525/C537923|C23.300.008/C537923|C23.888.592.608.575/C537923|C23.888.821.150/C537923 C06.198.050|C10.500.034|C10.597.606.360.455|C10.597.613.575|C16.131.314.094|C16.131.666.034|C16.320.322.500|C16.320.400.525|C23.300.008|C23.888.592.608.575|C23.888.821.150 FGS|FGS1|FGS2|FGS3|FG syndrome|FG syndrome 1|FG syndrome 2|FG syndrome 3|FG syndrome 4|FG SYNDROME 4;FGS4 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH OR WITHOUT|Keller syndrome|MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM|Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of the Corpus Callosum|Mental Retardation, X-Linked, Cask-Related|Mental Retardation, X-Linked, With Nystagmus|MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS, INCLUDED|NYSTAGMUS, INCLUDED|OKS Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Opitz Reynolds Fitzgerald syndrome MESH:C535713 MESH:D005146|MESH:D008342 C05.116.099.370.231.576/C535713|C05.660.207.231.576/C535713|C11.270.147.750/C535713|C16.131.621.207.231.576/C535713|C23.300.505/C535713 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C16.131.621.207.231.576|C23.300.505 Congenital abnormality|Eye disease|Musculoskeletal disease|Pathology (anatomical condition) Opitz trigonocephaly syndrome MESH:C537418 DO:DOID:0111581 MESH:D003398|MESH:D008607 C05.116.099.370.894.232/C537418|C05.660.207.240/C537418|C05.660.906.364/C537418|C10.597.606.360/C537418|C16.131.621.207.240/C537418|C16.131.621.906.364/C537418|C23.888.592.604.646/C537418|F03.625.539/C537418 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C10.597.606.360|C16.131.621.207.240|C16.131.621.906.364|C23.888.592.604.646|F03.625.539 Trigonocephaly syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Opium Dependence MESH:D000074607 Strong physiological and emotional dependence on OPIUM. MESH:D009293 C25.775.643.500.800|F03.900.647.500.800 C25.775.643.500|F03.900.647.500 Abuse, Opium|Abuses, Opium|Addiction, Opium|Dependence, Opium|Opium Abuse|Opium Abuses|Opium Addiction|Opium Smoking|Opium Use|Opium Uses|Smoking, Opium|Use, Opium|Uses, Opium Mental disorder|Substance-related disorder Opportunistic Infections MESH:D009894 An infection caused by an organism which becomes pathogenic under certain conditions, e.g., during immunosuppression. MESH:D007239 C01.597 C01 Infection, Opportunistic|Infections, Opportunistic|Opportunistic Infection Opsismodysplasia MESH:C537122 OMIM:258480 MESH:D010009 C05.116.099.708/C537122|C16.320.728/C537122 C05.116.099.708|C16.320.728 OPSMD Genetic disease (inborn)|Musculoskeletal disease Opsoclonus-Myoclonus Syndrome MESH:D053578 A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system. MESH:D009207|MESH:D015835|MESH:D020361 C04.588.614.550.600|C04.730.856.596|C10.228.758.500|C10.292.562.831|C10.574.781.662|C10.597.350.500.500|C11.590.725 C04.588.614.550|C04.730.856|C10.228.758|C10.292.562|C10.574.781|C10.597.350.500|C11.590 Dancing Eyes Dancing Feet Syndrome|Dancing Eyes, Dancing Feet Syndrome|Dancing Eyes-Dancing Feet Syndrome|Infants Myoclonic Encephalopathies|Infants Myoclonic Encephalopathy|Kinsbourne Syndrome|Myoclonic Encephalopathy of Infants|Myoclonus, Opsoclonus|Opsoclonus Myoclonus|Opsoclonus Myoclonus Ataxia|Opsoclonus Myoclonus Syndrome|Paraneoplastic Opsoclonus Myoclonus Ataxia|Paraneoplastic Opsoclonus-Myoclonus Ataxia Cancer|Eye disease|Nervous system disease Optic Atrophies, Hereditary MESH:D015418 Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER). MESH:D009896|MESH:D015785|MESH:D020271 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630 C10.292.700.225|C10.574.500|C11.270|C11.640.451|C16.320.290|C16.320.400 Atrophies, Hereditary Optic|Atrophy, Hereditary Optic|Hereditary Optic Atrophies|Hereditary Optic Atrophy|Optic Atrophy, Hereditary Eye disease|Genetic disease (inborn)|Nervous system disease Optic Atrophy MESH:D009896 DO:DOID:5723 Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition. MESH:D009901 C10.292.700.225|C11.640.451 C10.292.700|C11.640 Atrophy, Optic Eye disease|Nervous system disease OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES OMIM:616732 DO:DOID:0111434 MESH:D001259|MESH:D008607|MESH:D012640|MESH:D015418 C10.292.700.225.500/616732|C10.574.500.662/616732|C10.597.350.090/616732|C10.597.606.360/616732|C10.597.742/616732|C11.270.564/616732|C11.640.451.451/616732|C16.320.290.564/616732|C16.320.400.630/616732|C23.888.592.350.090/616732|C23.888.592.604.646/616732|C23.888.592.742/616732|F03.625.539/616732 C10.292.700.225.500|C10.574.500.662|C10.597.350.090|C10.597.606.360|C10.597.742|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630|C23.888.592.350.090|C23.888.592.604.646|C23.888.592.742|F03.625.539 OPA10|OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES Eye disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms OPTIC ATROPHY 11 OMIM:617302 DO:DOID:0111436 MESH:D015418 C10.292.700.225.500/617302|C10.574.500.662/617302|C11.270.564/617302|C11.640.451.451/617302|C16.320.290.564/617302|C16.320.400.630/617302 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630 OPA11 Eye disease|Genetic disease (inborn)|Nervous system disease Optic atrophy 1 and deafness MESH:C537124 OMIM:125250 MESH:D006319|MESH:D015418 C09.218.458.341.887/C537124|C10.292.700.225.500/C537124|C10.574.500.662/C537124|C10.597.751.418.341.887/C537124|C11.270.564/C537124|C11.640.451.451/C537124|C16.320.290.564/C537124|C16.320.400.630/C537124|C23.888.592.763.393.341.887/C537124 C09.218.458.341.887|C10.292.700.225.500|C10.574.500.662|C10.597.751.418.341.887|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630|C23.888.592.763.393.341.887 DOA+|DOMINANT OPTIC ATROPHY PLUS SYNDROME|OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms OPTIC ATROPHY 2 OMIM:311050 DO:DOID:0111443 MESH:D015418 C10.292.700.225.500/311050|C10.574.500.662/311050|C11.270.564/311050|C11.640.451.451/311050|C16.320.290.564/311050|C16.320.400.630/311050 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630 OPA2|OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET|OPTIC ATROPHY, X-LINKED Eye disease|Genetic disease (inborn)|Nervous system disease Optic Atrophy 4 MESH:C565343 DO:DOID:0111440|OMIM:605293 MESH:D015418 C10.292.700.225.500/C565343|C10.574.500.662/C565343|C11.270.564/C565343|C11.640.451.451/C565343|C16.320.290.564/C565343|C16.320.400.630/C565343 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630 OPA4 Eye disease|Genetic disease (inborn)|Nervous system disease Optic atrophy 5 MESH:C537126 DO:DOID:0111438|OMIM:610708 MESH:D015418 C10.292.700.225.500/C537126|C10.574.500.662/C537126|C11.270.564/C537126|C11.640.451.451/C537126|C16.320.290.564/C537126|C16.320.400.630/C537126 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630 OPA5 Eye disease|Genetic disease (inborn)|Nervous system disease Optic atrophy 6 MESH:C537127 DO:DOID:0111435|OMIM:258500 MESH:D015418 C10.292.700.225.500/C537127|C10.574.500.662/C537127|C11.270.564/C537127|C11.640.451.451/C537127|C16.320.290.564/C537127|C16.320.400.630/C537127 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630 OPA6|Optic atrophy, congenital or early infantile, autosomal recessive Eye disease|Genetic disease (inborn)|Nervous system disease Optic Atrophy 7 MESH:C567833 DO:DOID:0111437|OMIM:612989 MESH:D015418 C10.292.700.225.500/C567833|C10.574.500.662/C567833|C11.270.564/C567833|C11.640.451.451/C567833|C16.320.290.564/C567833|C16.320.400.630/C567833 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630 OPA7|OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY Eye disease|Genetic disease (inborn)|Nervous system disease OPTIC ATROPHY 9 OMIM:616289 DO:DOID:0111442 MESH:D015418 C10.292.700.225.500/616289|C10.574.500.662/616289|C11.270.564/616289|C11.640.451.451/616289|C16.320.290.564/616289|C16.320.400.630/616289 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630 OPA9 Eye disease|Genetic disease (inborn)|Nervous system disease Optic atrophy and cataract, autosomal dominant MESH:C537128 DO:DOID:0111433|OMIM:165300 MESH:D002386|MESH:D015418 C10.292.700.225.500/C537128|C10.574.500.662/C537128|C11.270.564/C537128|C11.510.245/C537128|C11.640.451.451/C537128|C16.320.290.564/C537128|C16.320.400.630/C537128 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.510.245|C11.640.451.451|C16.320.290.564|C16.320.400.630 OPA3|Opa3, Autosomal Dominant|Optic Atrophy 3, Autosomal Dominant|OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT|Optic atrophy, cataract, and neurologic disorder Eye disease|Genetic disease (inborn)|Nervous system disease Optic Atrophy, Autosomal Dominant MESH:D029241 OMIM:165500 Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria. MESH:D015418|MESH:D028361 C10.292.700.225.500.100|C10.574.500.662.100|C11.270.564.100|C11.640.451.451.100|C16.320.290.564.100|C16.320.400.630.100|C18.452.660.665 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630|C18.452.660 Atrophies, Juvenile Optic|Atrophies, Kjer-Type Optic|Atrophy, Juvenile Optic|Atrophy, Kjer's Optic|Atrophy, Kjer-Type Optic|Autosomal Dominant Optic Atrophy|Autosomal Dominant Optic Atrophy Kjer Type|Dominant Optic Atrophies|Dominant Optic Atrophy|Juvenile Optic Atrophies|Juvenile Optic Atrophy|Kjer Optic Atrophy|Kjer's Optic Atrophy|Kjers Optic Atrophy|Kjer-Type Optic Atrophies|Kjer Type Optic Atrophy|Kjer-Type Optic Atrophy|OAK|OPA1|Optic Atrophies, Dominant|Optic Atrophies, Juvenile|Optic Atrophies, Kjer-Type|Optic Atrophy 1|Optic Atrophy 1s|Optic Atrophy, Dominant|Optic Atrophy, Hereditary, Autosomal Dominant|Optic Atrophy, Juvenile|Optic Atrophy, Kjer's|Optic Atrophy, Kjer Type|Optic Atrophy, Kjer-Type|Optic Atrophy Type 1 Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy MESH:C565117 MESH:D006319|MESH:D009135|MESH:D009886|MESH:D015418 C05.651/C565117|C09.218.458.341.887/C565117|C10.292.562.750/C565117|C10.292.700.225.500/C565117|C10.574.500.662/C565117|C10.597.622.447/C565117|C10.597.751.418.341.887/C565117|C10.668.491/C565117|C11.270.564/C565117|C11.590.472/C565117|C11.640.451.451/C565117|C16.320.290.564/C565117|C16.320.400.630/C565117|C23.888.592.636.447/C565117|C23.888.592.763.393.341.887/C565117 C05.651|C09.218.458.341.887|C10.292.562.750|C10.292.700.225.500|C10.574.500.662|C10.597.622.447|C10.597.751.418.341.887|C10.668.491|C11.270.564|C11.590.472|C11.640.451.451|C16.320.290.564|C16.320.400.630|C23.888.592.636.447|C23.888.592.763.393.341.887 Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant MESH:C563497 MESH:D009896|MESH:D010523|MESH:D034381 C09.218.458.341/C563497|C10.292.700.225/C563497|C10.597.751.418.341/C563497|C10.668.829/C563497|C11.640.451/C563497|C23.888.592.763.393.341/C563497 C09.218.458.341|C10.292.700.225|C10.597.751.418.341|C10.668.829|C11.640.451|C23.888.592.763.393.341 Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms Optic Atrophy, Hereditary, Leber MESH:D029242 DO:DOID:705|OMIM:308905|OMIM:535000 A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001)) MESH:D015418|MESH:D028361 C10.292.700.225.500.400|C10.574.500.662.400|C11.270.564.400|C11.640.451.451.400|C16.320.290.564.400|C16.320.400.630.400|C18.452.660.670 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630|C18.452.660 Disease, Leber's|Diseases, Leber's|Hereditary Optic Neuroretinopathies|Hereditary Optic Neuroretinopathy|Leber Disease|Leber Hereditary Optic Atrophy|Leber Hereditary Optic Neuropathy|LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF|Leber Optic Atrophy|Leber Optic Atrophy and Dystonia|LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO|Leber Optic Neuropathy|Leber's Disease|Lebers Disease|Leber's Diseases|Leber's Hereditary Optic Atrophy|Leber's Hereditary Optic Neuropathy|Leber's Optic Atrophy|Leber's Optic Neuropathy|Lebers Optic Neuropathy|LHON|LHON, MODIFIER OF|LOAM|LOAS|Neuropathy, Leber's Optic|Neuroretinopathies, Hereditary Optic|Neuroretinopathy, Hereditary Optic|Optic Atrophy, Leber|Optic Atrophy, Leber, Hereditary|Optic Atrophy, Leber Type|Optic Neuropathy, Leber's|Optic Neuroretinopathies, Hereditary|Optic Neuroretinopathy, Hereditary Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Optic atrophy polyneuropathy deafness MESH:C537129 OMIM:311070 MESH:D006313|MESH:D011115|MESH:D015418|MESH:D020966 C05.651.534/C537129|C09.218.458.341.887.432/C537129|C09.218.807.186.432/C537129|C10.228.140.068.432/C537129|C10.292.700.225.500/C537129|C10.574.500.662/C537129|C10.597.751.418.341.887.432/C537129|C10.668.491.175/C537129|C10.668.829.800/C537129|C11.270.564/C537129|C11.640.451.451/C537129|C16.320.290.564/C537129|C16.320.400.630/C537129|C23.888.592.763.393.341.887.432/C537129 C05.651.534|C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.292.700.225.500|C10.574.500.662|C10.597.751.418.341.887.432|C10.668.491.175|C10.668.829.800|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630|C23.888.592.763.393.341.887.432 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5|Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5|CMTX5|Familial opticoacoustic nerve degeneration and polyneuropathy|Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive|Optic atrophy, neural deafness, and distal neurogenic amyotrophy|Optic atrophy, polyneuropathy, and deafness|Optic atrophy, sensorineural hearing loss and polyneuropathy|Rosenberg Chutorian syndrome|Rosenberg-Chutorian Syndrome Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Optic Atrophy Spastic Paraplegia Syndrome MESH:C564084 MESH:D010264|MESH:D015418 C10.292.700.225.500/C564084|C10.574.500.662/C564084|C10.597.622.669/C564084|C11.270.564/C564084|C11.640.451.451/C564084|C16.320.290.564/C564084|C16.320.400.630/C564084|C23.888.592.636.637/C564084 C10.292.700.225.500|C10.574.500.662|C10.597.622.669|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630|C23.888.592.636.637 Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Optic Atrophy with Demyelinating Disease of CNS MESH:C563496 MESH:D015418|MESH:D020279 C10.228.140.163.100.362/C563496|C10.228.140.695.625/C563496|C10.292.700.225.500/C563496|C10.314.400/C563496|C10.574.500.490/C563496|C10.574.500.662/C563496|C11.270.564/C563496|C11.640.451.451/C563496|C16.320.290.564/C563496|C16.320.400.367/C563496|C16.320.400.630/C563496|C16.320.565.189.362/C563496|C18.452.132.100.362/C563496|C18.452.648.189.362/C563496 C10.228.140.163.100.362|C10.228.140.695.625|C10.292.700.225.500|C10.314.400|C10.574.500.490|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.367|C16.320.400.630|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Optic Atrophy with Negative Electroretinograms MESH:C563494 MESH:D015418 C10.292.700.225.500/C563494|C10.574.500.662/C563494|C11.270.564/C563494|C11.640.451.451/C563494|C16.320.290.564/C563494|C16.320.400.630/C563494 C10.292.700.225.500|C10.574.500.662|C11.270.564|C11.640.451.451|C16.320.290.564|C16.320.400.630 Eye disease|Genetic disease (inborn)|Nervous system disease Optic atrophy, X-linked MESH:C537125 MESH:D009896|MESH:D040181 C10.292.700.225/C537125|C11.640.451/C537125|C16.320.322/C537125 C10.292.700.225|C11.640.451|C16.320.322 Optic atrophy 2|Optic atrophy, non-Leber type, with early onset Eye disease|Genetic disease (inborn)|Nervous system disease Optic Disk Drusen MESH:D015594 DO:DOID:13561 Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated INTRACRANIAL HYPERTENSION) and visual field deficits. Drusen may also occur in the retina (see RETINAL DRUSEN). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355) MESH:D009901 C10.292.700.450|C11.640.513 C10.292.700|C11.640 Drusen, Optic Disc|Drusen, Optic Disk|Drusen, Optic Nerve|Optic Disc Drusen|Optic Disc Drusens|Optic Disk Drusens|Optic Nerve Drusen Eye disease|Nervous system disease Optic Nerve Aplasia, Bilateral MESH:C563493 MESH:D009901 C10.292.700/C563493|C11.640/C563493 C10.292.700|C11.640 Eye disease|Nervous system disease Optic Nerve Diseases MESH:D009901 DO:DOID:14555|DO:DOID:1891 Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect. MESH:D003389|MESH:D005128 C10.292.700|C11.640 C10.292|C11 Cranial Nerve II Diseases|Cranial Nerve II Disorder|Disc Disorder, Optic|Disk Disorder, Optic|Disorder, Optic Disc|Foster Kennedy Syndrome|Foster-Kennedy Syndrome|Lesion, Neural-Optical|Neural Optical Lesion|Neural-Optical Lesion|Neural-Optical Lesions|Neuropathy, Optic|Optic Disc Disorder|Optic Disc Disorders|Optic Disk Disorder|Optic Disk Disorders|Optic Nerve Disease|Optic Neuropathies|Optic Neuropathy|Second Cranial Nerve Diseases|Syndrome, Foster-Kennedy Eye disease|Nervous system disease Optic Nerve Glioma MESH:D020339 DO:DOID:4992|DO:DOID:6576 Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. MESH:D005910|MESH:D019574 C04.557.465.625.600.380.795|C04.557.470.670.380.795|C04.557.580.625.600.380.795|C04.588.614.300.600.600|C04.588.614.596.240.240.500|C10.292.225.800.500|C10.292.700.500.500|C10.551.360.500.500|C10.551.775.250.500.500|C11.640.544.500 C04.557.465.625.600.380|C04.557.470.670.380|C04.557.580.625.600.380|C04.588.614.300.600|C04.588.614.596.240.240|C10.292.225.800|C10.292.700.500|C10.551.360.500|C10.551.775.250.500|C11.640.544 Adult Optic Nerve Glioma|Astrocytoma, Malignant, Optic Nerve|Childhood Optic Nerve Glioma|Glioma, Optic|Glioma, Optic Nerve|Glioma, Optic Nerve, Adult|Glioma, Optic Nerve, Childhood|Gliomas, Optic|Gliomas, Optic Nerve|Malignant Astrocytoma, Optic Nerve|Malignant Optic Nerve Astrocytoma|Optic Glioma|Optic Gliomas|Optic Nerve Glioma, Adult|Optic Nerve Glioma, Childhood|Optic Nerve Gliomas|Optic Nerve, Malignant Astrocytoma Cancer|Eye disease|Nervous system disease Optic Nerve Hypoplasia MESH:D000080344 DO:DOID:0111531 A group of rare genetic disorders characterized by underdeveloped OPTIC NERVES, resulting in increased incidences of vision impairment, CONGENITAL NYSTAGMUS and STRABISMUS. It may be syndromic, and is often associated with CNS malformations. MESH:D009421|MESH:D009901|MESH:D015785 C10.292.700.463|C10.500.760|C11.270.588|C11.640.522|C16.131.666.763|C16.320.290.612 C10.292.700|C10.500|C11.270|C11.640|C16.131.666|C16.320.290 Hypoplasia, Optic Nerve|Superior Segmental Optic Hypoplasia|Superior Segmental Optic Nerve Hypoplasia Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System MESH:C565949 MESH:D009901 C10.292.700/C565949|C11.640/C565949 C10.292.700|C11.640 Eye disease|Nervous system disease Optic Nerve Hypoplasia, Bilateral MESH:C563492 OMIM:165550 MESH:D009901 C10.292.700/C563492|C11.640/C563492 C10.292.700|C11.640 OPTIC NERVE APLASIA, BILATERAL, INCLUDED Eye disease|Nervous system disease Optic nerve hypoplasia, familial bilateral MESH:C537130 MESH:D025962 C10.292.562.700.375.875/C537130|C10.500.034.937/C537130|C10.500.760.500/C537130|C11.590.436.400.875/C537130|C16.131.666.034.937/C537130|C16.131.666.763.500/C537130 C10.292.562.700.375.875|C10.500.034.937|C10.500.760.500|C11.590.436.400.875|C16.131.666.034.937|C16.131.666.763.500 Familial bilateral optic nerve hypoplasia Congenital abnormality|Eye disease|Nervous system disease Optic Nerve Injuries MESH:D020221 Injuries to the optic nerve induced by a trauma to the face or head. These may occur with closed or penetrating injuries. Relatively minor compression of the superior aspect of orbit may also result in trauma to the optic nerve. Clinical manifestations may include visual loss, PAPILLEDEMA, and an afferent pupillary defect. MESH:D009901|MESH:D020209 C10.292.200.750|C10.292.700.475|C10.900.300.218.550|C11.640.530|C26.915.300.400.650 C10.292.200|C10.292.700|C10.900.300.218|C11.640|C26.915.300.400 Avulsion, Optic Nerve|Avulsions, Optic Nerve|Contusion, Optic Nerve|Contusions, Optic Nerve|Cranial Nerve II Injuries|Injuries, Optic Nerve|Injury, Optic Nerve|Nerve Avulsion, Optic|Nerve Avulsions, Optic|Nerve Contusion, Optic|Nerve Contusions, Optic|Nerve Injuries, Optic|Nerve Injury, Optic|Nerve Transection, Optic|Nerve Transections, Optic|Nerve Trauma, Optic|Nerve Traumas, Optic|Neuropathies, Traumatic Optic|Neuropathy, Traumatic Optic|Optic Nerve Avulsion|Optic Nerve Avulsions|Optic Nerve Contusion|Optic Nerve Contusions|Optic Nerve Injury|Optic Nerve Transection|Optic Nerve Transections|Optic Nerve Trauma|Optic Nerve Traumas|Optic Neuropathies, Traumatic|Optic Neuropathy, Traumatic|Second Cranial Nerve Injuries|Second Cranial Nerve Trauma|Transection, Optic Nerve|Transections, Optic Nerve|Trauma, Optic Nerve|Trauma, Second Cranial Nerve|Traumas, Optic Nerve|Traumatic Optic Neuropathies|Traumatic Optic Neuropathy Eye disease|Nervous system disease|Wounds and injuries Optic Nerve Neoplasms MESH:D019574 DO:DOID:3419 Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain. MESH:D003390|MESH:D009901 C04.588.614.300.600|C04.588.614.596.240.240|C10.292.225.800|C10.292.700.500|C10.551.360.500|C10.551.775.250.500|C11.640.544 C04.588.614.300|C04.588.614.596.240|C10.292.225|C10.292.700|C10.551.360|C10.551.775.250|C11.640 Benign Optic Nerve Neoplasm|Benign Optic Nerve Sheath Neoplasms|Benign Optic Nerve Sheath Tumors|Benign Optic Nerve Tumor|Malignant Optic Nerve Neoplasm|Malignant Optic Nerve Sheath Neoplasms|Malignant Optic Nerve Sheath Tumors|Malignant Optic Nerve Tumor|Neoplasm, Benign, Optic Nerve|Neoplasm, Optic Nerve|Neoplasm, Optic Nerve, Benign|Neoplasms, Optic Nerve|Optic Nerve Neoplasm|Optic Nerve Neoplasm, Benign|Optic Nerve Sheath Neoplasm|Optic Nerve Sheath Neoplasms, Malignant|Optic Nerve Sheath Tumors|Optic Nerve Sheath Tumors, Benign|Optic Nerve Sheath Tumors, Malignant|Optic Nerve Tumor, Malignant|Tumor, Benign, Optic Nerve|Tumor, Malignant, Optic Nerve|Tumor, Optic Nerve, Benign|Tumor, Optic Nerve, Malignant Cancer|Eye disease|Nervous system disease Optic Neuritis MESH:D009902 DO:DOID:1210 Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis). MESH:D009901 C10.292.700.550|C11.640.576 C10.292.700|C11.640 Anterior Optic Neuritides|Anterior Optic Neuritis|Neuritides, Anterior Optic|Neuritides, Optic|Neuritides, Posterior Optic|Neuritides, Retrobulbar|Neuritis, Anterior Optic|Neuritis, Optic|Neuritis, Posterior Optic|Neuritis, Retrobulbar|Neuropapillitides|Neuropapillitis|Optic Neuritides|Optic Neuritides, Anterior|Optic Neuritides, Posterior|Optic Neuritis, Anterior|Optic Neuritis, Posterior|Posterior Optic Neuritides|Posterior Optic Neuritis|Retrobulbar Neuritides|Retrobulbar Neuritis Eye disease|Nervous system disease Optic Neuropathy, Ischemic MESH:D018917 DO:DOID:12010 Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135) MESH:D009901|MESH:D014652 C10.292.700.600|C11.640.643|C14.907.601 C10.292.700|C11.640|C14.907 Anterior Ischemic Optic Neuropathy|Ischaemic Neuropathy, Optic|Ischemia, Optic Nerve|Ischemic Neuropathy, Optic|Ischemic Optic Neuropathies|Ischemic Optic Neuropathy|NAION|Nerve Ischemia, Optic|Neuropathy, Ischemic Optic|Neuropathy, Optic Ischaemic|Neuropathy, Optic Ischemic|Nonarteritic Anterior Ischemic Optic Neuropathy|Optic Ischaemic Neuropathies|Optic Ischaemic Neuropathy|Optic Ischemic Neuropathies|Optic Ischemic Neuropathy|Optic Nerve Ischemia|Optic Nerve Ischemias|Optic Neuropathy, Anterior Ischemic|Optic Neuropathy, Posterior Ischemic|Posterior Ischemic Optic Neuropathy Cardiovascular disease|Eye disease|Nervous system disease Opticocochleodentate Degeneration MESH:C563002 MESH:D003638|MESH:D009128|MESH:D011782|MESH:D013064|MESH:D020271 C05.651.512/C563002|C09.218.458.341.186/C563002|C10.574.500/C563002|C10.597.606.150.500.800/C563002|C10.597.613.550.550/C563002|C10.597.622.760/C563002|C10.597.751.418.341.186/C563002|C16.320.400/C563002|C23.888.592.604.150.500.800/C563002|C23.888.592.608.550.550/C563002|C23.888.592.636.786/C563002|C23.888.592.763.393.341.186/C563002 C05.651.512|C09.218.458.341.186|C10.574.500|C10.597.606.150.500.800|C10.597.613.550.550|C10.597.622.760|C10.597.751.418.341.186|C16.320.400|C23.888.592.604.150.500.800|C23.888.592.608.550.550|C23.888.592.636.786|C23.888.592.763.393.341.186 Ear-nose-throat disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Opticospinal Multiple Sclerosis MESH:C580329 MESH:D009103 C10.114.375.500/C580329|C10.314.350.500/C580329|C20.111.258.250.500/C580329 C10.114.375.500|C10.314.350.500|C20.111.258.250.500 Opticospinal MS|Optic-Spinal MS|Optic-Spinal Multiple Sclerosis Immune system disease|Nervous system disease Oral-facial-digital syndrome, type 2 MESH:C538585 MESH:D009958 C05.116.099.370.652/C538585|C05.660.207.700/C538585|C16.131.077.676/C538585|C16.131.260.830.670/C538585|C16.131.621.207.700/C538585|C16.320.180.830.670/C538585|C16.320.714/C538585 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 Orofaciodigital syndrome 2 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Oral Fistula MESH:D016155 An abnormal passage within the mouth communicating between two or more anatomical structures. MESH:D005402|MESH:D009059 C07.465.614|C23.300.575.500 C07.465|C23.300.575 Fistula, Oral|Fistulas, Oral|Oral Fistulas Mouth disease|Pathology (anatomical condition) Oral Hemorrhage MESH:D006472 Bleeding from the blood vessels of the mouth, which may occur as a result of injuries to the mouth, accidents in oral surgery, or diseases of the gums. MESH:D006470|MESH:D009059|MESH:D009912 C07.465.625|C23.550.414.922|C23.888.619.500 C07.465|C23.550.414|C23.888.619 Hemorrhage, Oral|Oral Hemorrhages Mouth disease|Pathology (process)|Signs and symptoms Oral Manifestations MESH:D009912 Disorders of the mouth attendant upon non-oral disease or injury. MESH:D009059|MESH:D012816 C07.465.634|C23.888.619 C07.465|C23.888 Manifestation, Oral|Manifestations, Oral|Oral Manifestation Mouth disease|Signs and symptoms Oral Submucous Fibrosis MESH:D009914 DO:DOID:5773 Irreversible FIBROSIS of the submucosal tissue of the MOUTH. MESH:D009059 C07.465.654 C07.465 Fibroses, Oral Submucous|Fibrosis, Oral Submucous|Oral Submucous Fibroses|Submucous Fibroses, Oral|Submucous Fibrosis, Oral Mouth disease Oral Ulcer MESH:D019226 A loss of mucous substance of the mouth showing local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. It is the result of a variety of causes, e.g., denture irritation, aphthous stomatitis (STOMATITIS, APHTHOUS); NOMA; necrotizing gingivitis (GINGIVITIS, NECROTIZING ULCERATIVE); TOOTHBRUSHING; and various irritants. (From Jablonski, Dictionary of Dentistry, 1992, p842) MESH:D009059 C07.465.672 C07.465 Mouth Ulcer|Mouth Ulcers|Oral Ulcers|Ulcer, Mouth|Ulcer, Oral|Ulcers, Mouth|Ulcers, Oral Mouth disease Orbital Cellulitis MESH:D054517 DO:DOID:11234 Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision. MESH:D002481|MESH:D009916 C11.675.387|C17.300.185.500 C11.675|C17.300.185 Cellulitides, Orbital|Cellulitis, Orbital|Orbital Cellulitides Connective tissue disease|Eye disease Orbital Diseases MESH:D009916 DO:DOID:930 Diseases of the bony orbit and contents except the eyeball. MESH:D005128 C11.675 C11 Disease, Orbital|Diseases, Orbital|Orbital Disease Eye disease Orbital Fractures MESH:D009917 Fractures of the bones in the orbit, which include parts of the frontal, ethmoidal, lacrimal, and sphenoid bones and the maxilla and zygoma. MESH:D008446|MESH:D012887 C10.900.300.284.500.550|C26.404.750.684|C26.915.300.425.500.550 C10.900.300.284.500|C26.404.750|C26.915.300.425.500 Blow Out Fracture|Blow-Out Fracture|Blow Out Fractures|Blow-Out Fractures|Fracture, Blow Out|Fracture, Blow-Out|Fracture, Orbital|Fractures, Blow Out|Fractures, Blow-Out|Fractures, Orbital|Orbital Fracture|Out Fracture, Blow|Out Fractures, Blow Nervous system disease|Wounds and injuries Orbital lymphoma MESH:C537131 DO:DOID:9986 MESH:D008223|MESH:D009918 C04.557.386/C537131|C04.588.149.721.656/C537131|C04.588.364.659/C537131|C05.116.231.754.659/C537131|C11.319.457/C537131|C11.675.659/C537131|C15.604.515.569/C537131|C20.683.515.761/C537131 C04.557.386|C04.588.149.721.656|C04.588.364.659|C05.116.231.754.659|C11.319.457|C11.675.659|C15.604.515.569|C20.683.515.761 Lymphoma of the orbit|Primary orbital lymphoma Cancer|Eye disease|Immune system disease|Lymphatic disease|Musculoskeletal disease Orbital Margin, Hypoplasia of MESH:C563490 MESH:D019465 C05.660.207/C563490|C16.131.621.207/C563490 C05.660.207|C16.131.621.207 Congenital abnormality|Musculoskeletal disease Orbital Myositis MESH:D055622 Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR. MESH:D009220|MESH:D009916 C05.651.594.728|C10.668.491.562.537|C11.675.426 C05.651.594|C10.668.491.562|C11.675 Myositides, Orbital|Myositis, Orbital|Orbital Myositides Eye disease|Musculoskeletal disease|Nervous system disease Orbital Neoplasms MESH:D009918 DO:DOID:4143 Neoplasms of the bony orbit and contents except the eyeball. MESH:D005134|MESH:D009916|MESH:D012888 C04.588.149.721.656|C04.588.364.659|C05.116.231.754.659|C11.319.457|C11.675.659 C04.588.149.721|C04.588.364|C05.116.231.754|C11.319|C11.675 Neoplasm, Orbital|Neoplasms, Orbital|Orbital Neoplasm Cancer|Eye disease|Musculoskeletal disease Orbital Pseudotumor MESH:D016727 DO:DOID:9369 A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS). MESH:D009916 C11.675.679 C11.675 Granuloma, Plasma Cell, Orbital|Inflammatory Pseudotumor of Orbit|Inflammatory Pseudotumor, Orbital|Inflammatory Pseudotumors, Orbital|Orbital Granuloma, Plasma Cell|Orbital Inflammatory Pseudotumor|Orbital Inflammatory Pseudotumors|Orbital Pseudotumors|Plasma Cell Granuloma, Orbital|Pseudotumor, Inflammatory, Orbital|Pseudotumor, Orbital|Pseudotumor, Orbital Inflammatory|Pseudotumors, Orbital Eye disease Orchitis MESH:D009920 DO:DOID:2518 Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD. MESH:D013733 C12.100.500.829.493|C12.200.294.829.493|C19.391.829.493 C12.100.500.829|C12.200.294.829|C19.391.829 Orchitides Endocrine system disease|Urogenital disease (male) Organizing Pneumonia MESH:D000092124 Any obstructive lung disease characterized by consolidated formation of GRANULATION TISSUE polyps within ALVEOLAR DUCTS AND ALVEOLI. It is classified as either primary (cryptogenic organizing pneumonia) or secondary organizing pneumonia. Secondary organizing pneumonia after transplantation is called bronchiolitis obliterans syndrome. MESH:D001989 C08.127.446.135.140.600|C08.381.495.146.135.140.600 C08.127.446.135.140|C08.381.495.146.135.140 Organizing Pneumonias|Organizing Pneumonia, Secondary|Pneumonia, Organizing|Pneumonia, Secondary Organizing|Secondary Organizing Pneumonia|Secondary Organizing Pneumonias Respiratory tract disease Organophosphate Poisoning MESH:D062025 Poisoning due to exposure to ORGANOPHOSPHORUS COMPOUNDS, such as ORGANOPHOSPHATES; ORGANOTHIOPHOSPHATES; and ORGANOTHIOPHOSPHONATES. MESH:D011041 C25.723.717 C25.723 Organophosphate Poisonings|Organophosphorus Poisoning|Organothiophosphate Poisoning|Organothiophosphate Poisonings|Organothiophosphonate Poisoning|Organothiophosphonate Poisonings|Poisoning, Organophosphate|Poisoning, Organothiophosphate|Poisoning, Organothiophosphonate|Poisonings, Organophosphate|Poisonings, Organothiophosphate|Poisonings, Organothiophosphonate Ornithine Carbamoyltransferase Deficiency Disease MESH:D020163 DO:DOID:9271 An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) MESH:D040181|MESH:D056806 C10.228.140.163.100.937.750|C16.320.322.828|C16.320.565.100.940.750|C16.320.565.189.937.750|C18.452.132.100.937.500|C18.452.648.100.940.500|C18.452.648.189.937.500 C10.228.140.163.100.937|C16.320.322|C16.320.565.100.940|C16.320.565.189.937|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937 Deficiencies, Ornithine Transcarbamylase|Deficiencies, OTC|Deficiency Disease, Ornithine Carbamoyltransferase|Deficiency Disease, Ornithine Transcarbamylase|Deficiency, Ornithine Transcarbamylase|Deficiency, OTC|Ornithine Carbamoyltransferase Deficiency|Ornithine Transcarbamylase Deficiencies|Ornithine Transcarbamylase Deficiency|Ornithine Transcarbamylase Deficiency Disease|Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To|OTC Deficiencies|OTC Deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO OMIM:311250 DO:DOID:9271 MESH:D020163|MESH:D022124 C10.228.140.163.100.937.750/311250|C16.320.322.828/311250|C16.320.565.100.940.750/311250|C16.320.565.189.937.750/311250|C18.452.132.100.937.500/311250|C18.452.648.100.940.500/311250|C18.452.648.189.937.500/311250|C23.550.421/311250 C10.228.140.163.100.937.750|C16.320.322.828|C16.320.565.100.940.750|C16.320.565.189.937.750|C18.452.132.100.937.500|C18.452.648.100.940.500|C18.452.648.189.937.500|C23.550.421 ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY|OTC DEFICIENCY Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (process) Oroacral Syndrome, Verloes-Koulischer Type MESH:C566374 MESH:D006228|MESH:D014071|MESH:D019066 C05.390.408/C566374|C05.660.585.988.425/C566374|C07.650.800/C566374|C07.793.700/C566374|C16.131.621.585.988.500/C566374|C16.131.850.800/C566374|C23.550.291.812/C566374 C05.390.408|C05.660.585.988.425|C07.650.800|C07.793.700|C16.131.621.585.988.500|C16.131.850.800|C23.550.291.812 Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process) Oroantral Fistula MESH:D009957 A fistula between the maxillary sinus and the oral cavity. MESH:D016155 C07.465.614.421|C23.300.575.500.550 C07.465.614|C23.300.575.500 Fistula, Oroantral|Fistulas, Oroantral|Oroantral Fistulas Mouth disease|Pathology (anatomical condition) Orofacial Cleft 1 MESH:C566121 DO:DOID:0080395|OMIM:119530 MESH:D002971|MESH:D002972 C05.500.460.185/C566121|C05.660.207.540.460.185/C566121|C07.320.440.185/C566121|C07.465.409.225/C566121|C07.465.525.164/C566121|C07.465.525.185/C566121|C07.650.500.460.185/C566121|C07.650.525.164/C566121|C07.650.525.185/C566121|C16.131.621.207.540.460.185/C566121|C16.131.850.500.460.185/C566121|C16.131.850.525.164/C566121|C16.131.850.525.185/C566121 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Cleft Lip-Palate, Nonsyndromic|CLEFT LIP/PALATE, NONSYNDROMIC|Cleft Lip with or without Cleft Palate, Nonsyndromic, 1|OFC|OFC1|Orofacial Cleft, Nonsyndromic Congenital abnormality|Mouth disease|Musculoskeletal disease Orofacial Cleft 10 MESH:C566605 DO:DOID:0080403|OMIM:613705 MESH:D002971|MESH:D002972 C05.500.460.185/C566605|C05.660.207.540.460.185/C566605|C07.320.440.185/C566605|C07.465.409.225/C566605|C07.465.525.164/C566605|C07.465.525.185/C566605|C07.650.500.460.185/C566605|C07.650.525.164/C566605|C07.650.525.185/C566605|C16.131.621.207.540.460.185/C566605|C16.131.850.500.460.185/C566605|C16.131.850.525.164/C566605|C16.131.850.525.185/C566605 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Cleft Lip with or without Cleft Palate, Nonsyndromic, 10|OFC10 Congenital abnormality|Mouth disease|Musculoskeletal disease Orofacial Cleft 11 MESH:C567410 DO:DOID:0080404|OMIM:600625 MESH:D002971|MESH:D002972 C05.500.460.185/C567410|C05.660.207.540.460.185/C567410|C07.320.440.185/C567410|C07.465.409.225/C567410|C07.465.525.164/C567410|C07.465.525.185/C567410|C07.650.500.460.185/C567410|C07.650.525.164/C567410|C07.650.525.185/C567410|C16.131.621.207.540.460.185/C567410|C16.131.850.500.460.185/C567410|C16.131.850.525.164/C567410|C16.131.850.525.185/C567410 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 CHCL, INCLUDED|Cleft Lip with or without Cleft Palate, Nonsyndromic, 11|CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 CLEFT LIP, CONGENITAL HEALED, INCLUDED|CONGENITAL HEALED CLEFT LIP, INCLUDED|OFC11 Congenital abnormality|Mouth disease|Musculoskeletal disease Orofacial Cleft 12 MESH:C567548 DO:DOID:0080405|OMIM:612858 MESH:D002971|MESH:D002972 C05.500.460.185/C567548|C05.660.207.540.460.185/C567548|C07.320.440.185/C567548|C07.465.409.225/C567548|C07.465.525.164/C567548|C07.465.525.185/C567548|C07.650.500.460.185/C567548|C07.650.525.164/C567548|C07.650.525.185/C567548|C16.131.621.207.540.460.185/C567548|C16.131.850.500.460.185/C567548|C16.131.850.525.164/C567548|C16.131.850.525.185/C567548 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Cleft Lip with or without Cleft Palate, Nonsyndromic, 12|OFC12 Congenital abnormality|Mouth disease|Musculoskeletal disease OROFACIAL CLEFT 13 OMIM:613857 DO:DOID:0080406 MESH:D002971|MESH:D002972 C05.500.460.185/613857|C05.660.207.540.460.185/613857|C07.320.440.185/613857|C07.465.409.225/613857|C07.465.525.164/613857|C07.465.525.185/613857|C07.650.500.460.185/613857|C07.650.525.164/613857|C07.650.525.185/613857|C16.131.621.207.540.460.185/613857|C16.131.850.500.460.185/613857|C16.131.850.525.164/613857|C16.131.850.525.185/613857 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 OFC13 Congenital abnormality|Mouth disease|Musculoskeletal disease OROFACIAL CLEFT 15 OMIM:616788 DO:DOID:0080408 MESH:D002971|MESH:D002972 C05.500.460.185/616788|C05.660.207.540.460.185/616788|C07.320.440.185/616788|C07.465.409.225/616788|C07.465.525.164/616788|C07.465.525.185/616788|C07.650.500.460.185/616788|C07.650.525.164/616788|C07.650.525.185/616788|C16.131.621.207.540.460.185/616788|C16.131.850.500.460.185/616788|C16.131.850.525.164/616788|C16.131.850.525.185/616788 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 OFC15 Congenital abnormality|Mouth disease|Musculoskeletal disease Orofacial Cleft 2 MESH:C566419 DO:DOID:0080396|OMIM:602966 MESH:D002971|MESH:D002972 C05.500.460.185/C566419|C05.660.207.540.460.185/C566419|C07.320.440.185/C566419|C07.465.409.225/C566419|C07.465.525.164/C566419|C07.465.525.185/C566419|C07.650.500.460.185/C566419|C07.650.525.164/C566419|C07.650.525.185/C566419|C16.131.621.207.540.460.185/C566419|C16.131.850.500.460.185/C566419|C16.131.850.525.164/C566419|C16.131.850.525.185/C566419 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Cleft Lip with or without Cleft Palate, Nonsyndromic, 2|OFC2 Congenital abnormality|Mouth disease|Musculoskeletal disease Orofacial Cleft 3 MESH:C563448 DO:DOID:0080397|OMIM:600757 MESH:D002971|MESH:D002972 C05.500.460.185/C563448|C05.660.207.540.460.185/C563448|C07.320.440.185/C563448|C07.465.409.225/C563448|C07.465.525.164/C563448|C07.465.525.185/C563448|C07.650.500.460.185/C563448|C07.650.525.164/C563448|C07.650.525.185/C563448|C16.131.621.207.540.460.185/C563448|C16.131.850.500.460.185/C563448|C16.131.850.525.164/C563448|C16.131.850.525.185/C563448 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Cleft Lip with or without Cleft Palate, Nonsyndromic, 3|OFC3 Congenital abnormality|Mouth disease|Musculoskeletal disease Orofacial Cleft 4 MESH:C564251 DO:DOID:0080398|OMIM:608371 MESH:D002971|MESH:D002972 C05.500.460.185/C564251|C05.660.207.540.460.185/C564251|C07.320.440.185/C564251|C07.465.409.225/C564251|C07.465.525.164/C564251|C07.465.525.185/C564251|C07.650.500.460.185/C564251|C07.650.525.164/C564251|C07.650.525.185/C564251|C16.131.621.207.540.460.185/C564251|C16.131.850.500.460.185/C564251|C16.131.850.525.164/C564251|C16.131.850.525.185/C564251 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Cleft Lip with or without Cleft Palate, Nonsyndromic, 4|OFC4 Congenital abnormality|Mouth disease|Musculoskeletal disease Orofacial Cleft 5 MESH:C563843 DO:DOID:0080399|OMIM:608874 MESH:D002971|MESH:D002972 C05.500.460.185/C563843|C05.660.207.540.460.185/C563843|C07.320.440.185/C563843|C07.465.409.225/C563843|C07.465.525.164/C563843|C07.465.525.185/C563843|C07.650.500.460.185/C563843|C07.650.525.164/C563843|C07.650.525.185/C563843|C16.131.621.207.540.460.185/C563843|C16.131.850.500.460.185/C563843|C16.131.850.525.164/C563843|C16.131.850.525.185/C563843 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Cleft Lip with or without Cleft Palate, Nonsyndromic, 5|OFC5 Congenital abnormality|Mouth disease|Musculoskeletal disease OROFACIAL CLEFT 6, SUSCEPTIBILITY TO OMIM:608864 DO:DOID:0080593 MESH:D002971 C07.465.409.225/608864|C07.465.525.164/608864|C07.650.525.164/608864|C16.131.850.525.164/608864 C07.465.409.225|C07.465.525.164|C07.650.525.164|C16.131.850.525.164 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 6|OFC6 Congenital abnormality|Mouth disease Orofacial Cleft 7 MESH:C563464 DO:DOID:0080400 MESH:D002971|MESH:D004476|MESH:D013576 C05.116.099.370.894.819/C563464|C05.660.585.800/C563464|C05.660.906.819/C563464|C07.465.409.225/C563464|C07.465.525.164/C563464|C07.650.525.164/C563464|C16.131.077.350/C563464|C16.131.621.585.800/C563464|C16.131.621.906.819/C563464|C16.131.831.350/C563464|C16.131.850.525.164/C563464|C16.320.850.250/C563464|C17.800.804.350/C563464|C17.800.827.250/C563464 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C07.465.409.225|C07.465.525.164|C07.650.525.164|C16.131.077.350|C16.131.621.585.800|C16.131.621.906.819|C16.131.831.350|C16.131.850.525.164|C16.320.850.250|C17.800.804.350|C17.800.827.250 Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Orofacial Cleft 9 MESH:C563675 DO:DOID:0080402|OMIM:610361 MESH:D002971|MESH:D002972 C05.500.460.185/C563675|C05.660.207.540.460.185/C563675|C07.320.440.185/C563675|C07.465.409.225/C563675|C07.465.525.164/C563675|C07.465.525.185/C563675|C07.650.500.460.185/C563675|C07.650.525.164/C563675|C07.650.525.185/C563675|C16.131.621.207.540.460.185/C563675|C16.131.850.500.460.185/C563675|C16.131.850.525.164/C563675|C16.131.850.525.185/C563675 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Cleft Lip with or without Cleft Palate, Nonsyndromic, 9|OFC9 Congenital abnormality|Mouth disease|Musculoskeletal disease Oro-facial gangrene MESH:C531760 MESH:D009625 C07.465.604/C531760 C07.465.604 Noma neonatorum|Oral gangrene|Oro-facial noma Mouth disease Orofaciodigital syndrome 11 MESH:C557821 DO:DOID:0060381 MESH:D009958 C05.116.099.370.652/C557821|C05.660.207.700/C557821|C16.131.077.676/C557821|C16.131.260.830.670/C557821|C16.131.621.207.700/C557821|C16.320.180.830.670/C557821|C16.320.714/C557821 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 Gabrielli syndrome|OFD11|OFDS XI|Oral-facial-digital syndrome 11|Oral-Facial-Digital Syndrome, Type XI|Oral-Facial-Digital Syndrome with Skeletal Anomalies|Orofaciodigital syndrome XI Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Orofaciodigital Syndrome 12 MESH:C548034 MESH:D009958 C05.116.099.370.652/C548034|C05.660.207.700/C548034|C16.131.077.676/C548034|C16.131.260.830.670/C548034|C16.131.621.207.700/C548034|C16.320.180.830.670/C548034|C16.320.714/C548034 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Orofaciodigital Syndrome 13 MESH:C548035 MESH:D009958 C05.116.099.370.652/C548035|C05.660.207.700/C548035|C16.131.077.676/C548035|C16.131.260.830.670/C548035|C16.131.621.207.700/C548035|C16.320.180.830.670/C548035|C16.320.714/C548035 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Orofaciodigital syndrome 3 MESH:C557817 DO:DOID:0060373 MESH:D009958 C05.116.099.370.652/C557817|C05.660.207.700/C557817|C16.131.077.676/C557817|C16.131.260.830.670/C557817|C16.131.621.207.700/C557817|C16.320.180.830.670/C557817|C16.320.714/C557817 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 Brachydactyly of the hands and feet with duplication of the first toes|Brachydactyly with major proximal phalangeal shortening|OFDS III|Oral-facial-digital syndrome 3|Oral-Facial-Digital Syndrome, Type III|Orofaciodigital syndrome III|Sugarman brachydactyly|Sugarman syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Orofaciodigital syndrome 4 MESH:C537133 DO:DOID:0060374|OMIM:258860 MESH:D009958 C05.116.099.370.652/C537133|C05.660.207.700/C537133|C16.131.077.676/C537133|C16.131.260.830.670/C537133|C16.131.621.207.700/C537133|C16.320.180.830.670/C537133|C16.320.714/C537133 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 Baraitser-Burn syndrome|MOHR-MAJEWSKI SYNDROME|OFD4|OFDS IV|OFD Syndrome, Baraitser-Burn Type|OFD Syndrome With Tibial Defects|Oral Facial Digital Syndrome, Type IV|ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV|Orofaciodigital Syndrome IV|Orofaciodigital syndrome with tibial dysplasia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Orofaciodigital syndrome 5 MESH:C557819 DO:DOID:0060375|OMIM:174300 MESH:D009958 C05.116.099.370.652/C557819|C05.660.207.700/C557819|C16.131.077.676/C557819|C16.131.260.830.670/C557819|C16.131.621.207.700/C557819|C16.320.180.830.670/C557819|C16.320.714/C557819 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 OFD5|OFDS V|Oral-facial-digital syndrome 5|Oral-Facial-Digital Syndrome, Type V|Orofaciodigital syndrome, Thurston type|Orofaciodigital syndrome V|Polydactyly, Postaxial, With Median Cleft Of Upper Lip|Thurston syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Orofaciodigital syndrome 6 MESH:C536531 DO:DOID:0060376|OMIM:277170 MESH:D009958 C05.116.099.370.652/C536531|C05.660.207.700/C536531|C16.131.077.676/C536531|C16.131.260.830.670/C536531|C16.131.621.207.700/C536531|C16.320.180.830.670/C536531|C16.320.714/C536531 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 OFD6|OFDS VI|Oral-facial-digital syndrome, type 6|Oral-Facial-Digital Syndrome, Type VI|Orofaciodigital Syndrome VI|Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation|POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION|Varadi Papp syndrome|Varadi-Papp Syndrome|Varadi Syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Orofaciodigital syndrome 8 MESH:C557820 DO:DOID:0060378 MESH:D009958 C05.116.099.370.652/C557820|C05.660.207.700/C557820|C16.131.077.676/C557820|C16.131.260.830.670/C557820|C16.131.621.207.700/C557820|C16.320.180.830.670/C557820|C16.320.714/C557820 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 Oral-facial-digital syndrome 8|Orofaciodigital syndrome VIII Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Orofaciodigital syndrome 9 MESH:C557818 DO:DOID:0060382 MESH:D009958|MESH:D012873 C05.116.099.370.652/C557818|C05.660.207.700/C557818|C16.131.077.676/C557818|C16.131.260.830.670/C557818|C16.131.621.207.700/C557818|C16.320.180.830.670/C557818|C16.320.714/C557818|C16.320.850/C557818|C17.800.827/C557818 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714|C16.320.850|C17.800.827 OFD9|OFDS IX|Oral-facial-digital syndrome 9|Oral Facial Digital Syndrome, Type IX|Oral-facial-digital syndrome with retinal abnormalities|Orofaciodigital syndrome IX|Orofaciodigital Syndrome, Type 9|Orofaciodigital syndrome with retinal abnormalities Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Orofaciodigital Syndromes MESH:D009958 DO:DOID:0060316|DO:DOID:4501 Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. MESH:D000015|MESH:D004413|MESH:D019465|MESH:D025064|MESH:D030342 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 C05.116.099.370|C05.660.207|C16.131.077|C16.131.260.830|C16.131.621.207|C16.320|C16.320.180.830 Dysplasia Linguofacialis|Gorlin Psaume Syndrome|Gorlin-Psaume Syndrome|Mohr Syndrome|Oral-Facial-Digital Syndrome|Oral Facial Digital Syndrome, Type I|Oral-Facial-Digital Syndrome, Type I|Oral Facial Digital Syndrome, Type II|Oral-Facial-Digital Syndrome, Type II|Orodigitofacial Dysostosis|Orodigitofacial Syndrome|Orofaciodigital Syndrome|Oro-Facio-Digital Syndrome|Orofaciodigital Syndrome I|Orofaciodigital Syndrome II|Orofaciodigital Syndrome IIs|Orofaciodigital Syndrome Is|Papillon Leage and Psaume Syndrome|Papillon-Leage and Psaume Syndrome|Syndrome, Gorlin-Psaume|Syndrome, Mohr|Syndrome, Orofaciodigital|Syndromes, Orofaciodigital Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Orofaciodigital syndrome, Shashi type MESH:C537135 OMIM:300238 MESH:D038901 C10.597.606.360.455/C537135|C16.320.322.500/C537135|C16.320.400.525/C537135 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 11|Mental retardation X-linked Shashi type|Mental Retardation, X-Linked, Shashi Type|Mental retardation X-linked syndromic 11|Mental Retardation, X-Linked, Syndromic 11|MRXS11|Shashi X-linked mental retardation syndrome|SMRXS Genetic disease (inborn)|Nervous system disease Orofaciodigital syndrome type1 MESH:C537134 OMIM:311200 MESH:D009958 C05.116.099.370.652/C537134|C05.660.207.700/C537134|C16.131.077.676/C537134|C16.131.260.830.670/C537134|C16.131.621.207.700/C537134|C16.320.180.830.670/C537134|C16.320.714/C537134 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 OFD1|OFDS I|Oral-facial-digital syndrome, type 1|ORAL-FACIAL-DIGITAL SYNDROME, TYPE I|OROFACIODIGITAL SYNDROME I|PAPILLON-LEAGE AND PSAUME SYNDROME|Papillon-League-Psaume syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Orofaciodigital Syndrome VII MESH:C563104 DO:DOID:0060377 MESH:D009958 C05.116.099.370.652/C563104|C05.660.207.700/C563104|C16.131.077.676/C563104|C16.131.260.830.670/C563104|C16.131.621.207.700/C563104|C16.320.180.830.670/C563104|C16.320.714/C563104 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 OFD7|OFDS VII|Oral-Facial-Digital Syndrome, Type VII|Whelan Syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Orofaciodigital Syndrome X MESH:C563491 DO:DOID:0060380 MESH:D009958 C05.116.099.370.652/C563491|C05.660.207.700/C563491|C16.131.077.676/C563491|C16.131.260.830.670/C563491|C16.131.621.207.700/C563491|C16.320.180.830.670/C563491|C16.320.714/C563491 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 Oral-Facial-Digital Syndrome, Type X|Oral-Facial-Digital Syndrome with Fibular Aplasia|Orofaciodigital Syndrome with Fibular Aplasia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease OROFACIODIGITAL SYNDROME XIV OMIM:615948 MESH:D009958 C05.116.099.370.652/615948|C05.660.207.700/615948|C16.131.077.676/615948|C16.131.260.830.670/615948|C16.131.621.207.700/615948|C16.320.180.830.670/615948|C16.320.714/615948 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 OFD14 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease OROFACIODIGITAL SYNDROME XV OMIM:617127 MESH:D009958 C05.116.099.370.652/617127|C05.660.207.700/617127|C16.131.077.676/617127|C16.131.260.830.670/617127|C16.131.621.207.700/617127|C16.320.180.830.670/617127|C16.320.714/617127 C05.116.099.370.652|C05.660.207.700|C16.131.077.676|C16.131.260.830.670|C16.131.621.207.700|C16.320.180.830.670|C16.320.714 OFD15|OFDS XV|ORAL-FACIAL-DIGITAL SYNDROME, TYPE XV Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Oropharyngeal Neoplasms MESH:D009959 Tumors or cancer of the OROPHARYNX. MESH:D010610 C04.588.443.665.710.684|C07.550.745.671|C09.647.710.685|C09.775.549.685 C04.588.443.665.710|C07.550.745|C09.647.710|C09.775.549 Cancer of Oropharnyx|Cancer of the Oropharynx|Cancer, Oropharyngeal|Cancer, Oropharynx|Cancers, Oropharyngeal|Cancers, Oropharynx|Neoplasm, Oropharyngeal|Neoplasm, Oropharynx|Neoplasms, Oropharyngeal|Neoplasms, Oropharynx|Oropharnyx Cancer|Oropharnyx Cancers|Oropharyngeal Cancer|Oropharyngeal Cancers|Oropharyngeal Neoplasm|Oropharynx Cancer|Oropharynx Cancers|Oropharynx Neoplasm|Oropharynx Neoplasms Cancer|Ear-nose-throat disease|Mouth disease Oroticaciduria 1 MESH:C537136 OMIM:258900 MESH:D011686 C16.320.565.798/C537136|C18.452.648.798/C537136 C16.320.565.798|C18.452.648.798 OAWA, INCLUDED|OPRT AND ODC DEFICIENCY|Orotate phosphoribosyltransferase and omp decarboxylase deficiency|OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY|OROTIC ACIDURIA|OROTIC ACIDURIA I|Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency|UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA, INCLUDED|UMP SYNTHASE DEFICIENCY|Uridine monophosphate synthase deficiency|Uridine monophosphate synthetase deficiency Genetic disease (inborn)|Metabolic disease Orotic Aciduria II MESH:C562589 MESH:D011686 C16.320.565.798/C562589|C18.452.648.798/C562589 C16.320.565.798|C18.452.648.798 OMP Decarboxylase Deficiency|Orotidylic Decarboxylase Deficiency Genetic disease (inborn)|Metabolic disease Orstavik Lindemann Solberg syndrome MESH:C537137 OMIM:217085 MESH:D006222|MESH:D006330|MESH:D013576|MESH:D014062 C04.445/C537137|C04.588.443.591.925/C537137|C05.116.099.370.894.819/C537137|C05.660.585.800/C537137|C05.660.906.819/C537137|C07.465.530.925/C537137|C07.465.910.470/C537137|C14.240.400/C537137|C14.280.400/C537137|C16.131.240.400/C537137|C16.131.621.585.800/C537137|C16.131.621.906.819/C537137 C04.445|C04.588.443.591.925|C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C07.465.530.925|C07.465.910.470|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.585.800|C16.131.621.906.819 CHDTHP|Congenital heart defects, hamartomas of tongue, and polysyndactyly Cancer|Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease Orthomyxoviridae Infections MESH:D009976 Virus diseases caused by the ORTHOMYXOVIRIDAE. MESH:D012327 C01.925.782.620 C01.925.782 Infection, Orthomyxoviridae|Infection, Orthomyxovirus|Infections, Orthomyxoviridae|Infections, Orthomyxovirus|Influenza, Swine|Orthomyxoviridae Infection|Orthomyxovirus Infection|Orthomyxovirus Infections|Swine Influenza Viral disease Orthorexia Nervosa MESH:D000088102 An eating disorder that is characterized by the pathological obsession with HEALTHY EATING. MESH:D001068 F03.400.860 F03.400 Healthy Eating, Obsessive|Nervosa, Orthorexia|Obsessive Healthy Eating|Orthorexia Mental disorder Orthostatic Hypotensive Disorder, Streeten Type MESH:C564174 OMIM:143850 MESH:D007024 C10.177.575.600.450/C564174|C14.907.514.482/C564174 C10.177.575.600.450|C14.907.514.482 Hyperbradykininism|OHDS|Orthostatic Hypotensive Disorder Cardiovascular disease|Nervous system disease Orthostatic Intolerance MESH:D054971 OMIM:604715 Symptoms of cerebral hypoperfusion or autonomic overaction which develop while the subject is standing, but are relieved on recumbency. Types of this include NEUROCARDIOGENIC SYNCOPE; POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME; and neurogenic ORTHOSTATIC HYPOTENSION. (From Noseworthy, JH., Neurological Therapeutics Principles and Practice, 2007, p2575-2576) MESH:D009461|MESH:D054969 C10.177.575.600|C23.888.592.610 C10.177.575|C23.888.592 Intolerance, Orthostatic|IRRITABLE HEART|MITRAL VALVE PROLAPSE SYNDROME|NEUROCIRCULATORY ASTHENIA|SOLDIERS HEART Nervous system disease|Signs and symptoms Osebold Skeletal Dysplasia Osteolysis Syndrome MESH:C566380 MESH:D010009|MESH:D010014 C05.116.099.708/C566380|C05.116.264.579/C566380|C16.320.728/C566380 C05.116.099.708|C05.116.264.579|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Oslam syndrome MESH:C537138 MESH:D000015|MESH:D001859|MESH:D005532|MESH:D006228|MESH:D012516 C04.557.450.565.575.650/C537138|C04.557.450.795.620/C537138|C04.588.149/C537138|C05.116.231/C537138|C05.330.495/C537138|C05.390.408/C537138|C05.660.585.512.380/C537138|C05.660.585.988.425/C537138|C16.131.077/C537138|C16.131.621.585.512.500/C537138|C16.131.621.585.988.500/C537138 C04.557.450.565.575.650|C04.557.450.795.620|C04.588.149|C05.116.231|C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.077|C16.131.621.585.512.500|C16.131.621.585.988.500 Cancer|Congenital abnormality|Musculoskeletal disease Osler-rendu-weber syndrome 2 MESH:C537139 OMIM:600376 MESH:D013683 C14.907.454.900/C537139|C14.907.823.780/C537139|C15.378.463.515.900/C537139|C16.131.240.850.968/C537139 C14.907.454.900|C14.907.823.780|C15.378.463.515.900|C16.131.240.850.968 Telangiectasia, hereditary hemorrhagic, type 2|TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2;HHT2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC|TELANGIECTASIA-RELATED, INCLUDED Blood disease|Cardiovascular disease|Congenital abnormality Osler-rendu-weber syndrome 3 MESH:C537140 OMIM:601101 MESH:D013683 C14.907.454.900/C537140|C14.907.823.780/C537140|C15.378.463.515.900/C537140|C16.131.240.850.968/C537140 C14.907.454.900|C14.907.823.780|C15.378.463.515.900|C16.131.240.850.968 HHT3|Telangiectasia, hereditary hemorrhagic, type 3 Blood disease|Cardiovascular disease|Congenital abnormality Osseous Heteroplasia, Progressive MESH:C562735 DO:DOID:0111535|OMIM:166350 MESH:D001851|MESH:D009999|MESH:D012873 C05.116.198/C562735|C16.320.850/C562735|C17.800.827/C562735|C18.452.104/C562735|C23.550.751/C562735 C05.116.198|C16.320.850|C17.800.827|C18.452.104|C23.550.751 Cutaneous Ossification|Ectopic Ossification, Familial|Osteodermia|Osteoma Cutis|Osteosis Cutis|POH|Progressive Osseous Heteroplasia Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Pathology (process)|Skin disease Ossicular Malformations, familial MESH:C537142 MESH:D006311 C09.218.458/C537142|C10.597.751.418/C537142|C23.888.592.763.393/C537142 C09.218.458|C10.597.751.418|C23.888.592.763.393 Familial middle ear ossicular anomalies|Familial ossicular malformations Ear-nose-throat disease|Nervous system disease|Signs and symptoms Ossification, Heterotopic MESH:D009999 The development of bony substance in normally soft structures. MESH:D010335 C23.550.751 C23.550 Ectopic Ossification|Heterotopic Ossification|Ossification, Ectopic|Ossification, Pathologic|Ossification, Pathological|Pathological Ossification|Pathologic Ossification Pathology (process) Ossification of Posterior Longitudinal Ligament MESH:D017887 A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. It is often associated with anterior ankylosing hyperostosis. MESH:D009999|MESH:D013122 C05.116.900.480|C23.550.751.500 C05.116.900|C23.550.751 Calcification of Posterior Longitudinal Ligament|Posterior Longitudinal Ligament Calcification|Posterior Longitudinal Ligament Ossification Musculoskeletal disease|Pathology (process) Ossification of the posterior longitudinal ligament of the spine MESH:C537143 OMIM:602475 MESH:D017887 C05.116.900.480/C537143|C23.550.751.500/C537143 C05.116.900.480|C23.550.751.500 OPLL|Ossification of the Posterior Longitudinal Ligament of Spine Musculoskeletal disease|Pathology (process) Ossified Ear Cartilages MESH:C563488 MESH:D002114 C18.452.174.130/C563488 C18.452.174.130 Metabolic disease Osteitis MESH:D010000 DO:DOID:3342 Inflammation of the bone. MESH:D001847 C05.116.680 C05.116 Bone Inflammation|Inflammation, Bone Musculoskeletal disease Osteitis Deformans MESH:D010001 DO:DOID:5408|OMIM:167250|OMIM:602080|OMIM:616833 A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry. MESH:D001847 C05.116.692 C05.116 Osseous Paget's Disease|Paget Disease, Bone|Paget Disease of Bone|PAGET DISEASE OF BONE 2, EARLY-ONSET|PAGET DISEASE OF BONE 3|PAGET DISEASE OF BONE 6|Pagets Disease, Bone|Paget's Disease of Bone|PDB2|PDB3|PDB6 Musculoskeletal disease Osteitis Fibrosa Cystica MESH:D010002 DO:DOID:3341 A fibrous degeneration, cyst formation, and the presence of fibrous nodules in bone, usually due to HYPERPARATHYROIDISM. MESH:D001849 C05.116.132.684 C05.116.132 Recklinghausen Disease, Bone|Recklinghausen Disease of Bone|Recklinghausens Disease, Bone|Recklinghausen's Disease of Bone Musculoskeletal disease Osteoarthritis MESH:D010003 OMIM:140600|OMIM:165720|OMIM:607850|OMIM:610839|OMIM:612400|OMIM:612401 A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. MESH:D001168|MESH:D012216 C05.550.114.606|C05.799.613 C05.550.114|C05.799 Arthritides, Degenerative|Arthritis, Degenerative|Arthroses|Arthrosis|Degenerative Arthritides|Degenerative Arthritis|DIPOA|GOA1|HAND OSTEOARTHRITIS;HOA HEBERDEN NODES, INCLUDED|OA|OADIP|OS1|OS2|OS3|OS4|OS5|OS6|Osteoarthritides|OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA|OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS|OSTEOARTHRITIS OF HIP|OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO|OSTEOARTHRITIS OF KNEE|OSTEOARTHRITIS OF KNEE/HIP|OSTEOARTHRITIS SUSCEPTIBILITY 1|OSTEOARTHRITIS SUSCEPTIBILITY 2|OSTEOARTHRITIS SUSCEPTIBILITY 3|OSTEOARTHRITIS SUSCEPTIBILITY 4|OSTEOARTHRITIS SUSCEPTIBILITY 5|OSTEOARTHRITIS SUSCEPTIBILITY 6|Osteoarthroses|Osteoarthrosis|Osteoarthrosis Deformans Musculoskeletal disease Osteoarthritis, Hip MESH:D015207 Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion. MESH:D010003 C05.550.114.606.400|C05.799.613.400 C05.550.114.606|C05.799.613 Coxarthroses|Coxarthrosis|Hip Osteoarthritis|Osteoarthritis Of Hip|Osteoarthritis Of Hips|Osteoarthritis of the Hip Musculoskeletal disease Osteoarthritis, Knee MESH:D020370 Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019) MESH:D010003 C05.550.114.606.500|C05.799.613.500 C05.550.114.606|C05.799.613 Knee Osteoarthritides|Knee Osteoarthritis|Osteoarthritis of Knee|Osteoarthritis of the Knee Musculoskeletal disease Osteoarthritis, Spine MESH:D055013 A degenerative joint disease involving the SPINE. It is characterized by progressive deterioration of the spinal articular cartilage (CARTILAGE, ARTICULAR), usually with hardening of the subchondral bone and outgrowth of bone spurs (OSTEOPHYTE). MESH:D010003|MESH:D025241 C05.116.900.853.625.399|C05.550.114.606.750|C05.550.114.865.399|C05.799.613.750 C05.116.900.853.625|C05.550.114.606|C05.550.114.865|C05.799.613 Lumbar Osteoarthritis|Osteoarthritis, Lumbar|Osteoarthritis of Spine|Osteoarthritis of the Spine|Osteoarthritis, Spinal|Spinal Osteoarthritis|Spine Osteoarthritis Musculoskeletal disease Osteoarthritis with Mild Chondrodysplasia MESH:C565740 OMIM:604864 MESH:D010003|MESH:D010009 C05.116.099.708/C565740|C05.550.114.606/C565740|C05.799.613/C565740|C16.320.728/C565740 C05.116.099.708|C05.550.114.606|C05.799.613|C16.320.728 NAMAQUALAND HIP DYSPLASIA|NHD|OSCDP Genetic disease (inborn)|Musculoskeletal disease Osteoarthropathy of fingers familial MESH:C537144 MESH:D055034 C05.116.821/C537144 C05.116.821 Osteoarthropathy Of Fingers, Familial|Thiemann epiphyseal disease|Thiemann's disease Musculoskeletal disease Osteoarthropathy, Primary Hypertrophic MESH:D010004 DO:DOID:14283|OMIM:119900|OMIM:259100|OMIM:614441 A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists. MESH:D001847|MESH:D007592|MESH:D030342 C05.116.725|C05.550.648|C16.320.718 C05.116|C05.550|C16.320 Acropachies, Hereditary|Acropachy, Hereditary|Autosomal Dominant Pachydermoperiostoses|Autosomal Dominant Pachydermoperiostosis|Autosomal Recessive Pachydermoperiostosis|CIO, INCLUDED|Clubbing of Digits|COA, INCLUDED|Cranioosteoarthropathies|Cranioosteoarthropathy|Currarino Idiopathic Osteoarthropathy|CURRARINO IDIOPATHIC OSTEOARTHROPATHY, INCLUDED|DIGC|Digital Clubbing, Isolated Congenital|Familial Idiopathic Osteoarthropathy Of Childhood|FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD, INCLUDED|Hereditary Acropachies|Hereditary Acropachy|Hypertrophic Osteoarthropathy, Idiopathic|Hypertrophic Osteoarthropathy, Primary|Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant|Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive|HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1|HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2|Idiopathic Hypertrophic Osteoarthropathy|Osteoarthropathy, Currarino Idiopathic|Osteoarthropathy, Idiopathic Hypertrophic|Pachydermoperiostoses, Autosomal Dominant|Pachydermoperiostosis|Pachydermoperiostosis, Autosomal Dominant|Pachydermoperiostosis, Autosomal Recessive|PDP, AUTOSOMAL RECESSIVE|PHOAR1|PHOAR2|PHO, AUTOSOMAL RECESSIVE|Primary Hypertrophic Osteoarthropathy|Primary Hypertrophic Osteoarthropathy, Autosomal Dominant|Recessive Pachydermoperiostosis, Autosomal|Touraine Solente Gole Syndrome|Touraine-Solente-Gole Syndrome|TOURAINE-SOLENTE-GOLE SYNDROME CRANIOOSTEOARTHROPATHY, INCLUDED Genetic disease (inborn)|Musculoskeletal disease Osteoarthropathy, Secondary Hypertrophic MESH:D010005 DO:DOID:10393 Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed) MESH:D001847|MESH:D007592 C05.116.758|C05.550.684 C05.116|C05.550 Clubbed Finger|Clubbed Fingers|Disease, Marie-Bamberger|Finger, Clubbed|Fingers, Clubbed|Hypertrophic Osteoarthropathies, Secondary|Hypertrophic Osteoarthropathy, Secondary|Marie Bamberger Disease|Marie-Bamberger Disease|Osteoarthropathies, Secondary Hypertrophic|Secondary Hypertrophic Osteoarthropathies|Secondary Hypertrophic Osteoarthropathy Musculoskeletal disease Osteoblastoma MESH:D018215 DO:DOID:0060098 A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. It occurs frequently in the spine of young persons. (From Dorland, 27th ed; Stedman, 25th ed) MESH:D018213 C04.557.450.565.575.600 C04.557.450.565.575 Giant Osteoid Osteoma|Giant Osteoid Osteomas|Osteoblastomas|Osteoid Osteoma, Giant|Osteoid Osteomas, Giant|Osteoma, Giant Osteoid|Osteomas, Giant Osteoid Cancer Osteochondritis MESH:D010007 DO:DOID:84 Inflammation of a bone and its overlaying CARTILAGE. MESH:D001847|MESH:D002357 C05.116.791|C05.182.520|C17.300.182.520 C05.116|C05.182|C17.300.182 Meniscitides|Meniscitis|Osteochondritides Connective tissue disease|Musculoskeletal disease Osteochondritis Dissecans MESH:D010008 DO:DOID:84 A type of osteochondritis in which articular cartilage and associated bone becomes partially or totally detached to form joint loose bodies. Affects mainly the knee, ankle, and elbow joints. MESH:D010007 C05.116.791.668 C05.116.791 Dissecans, Osteochondritis Musculoskeletal disease OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE OMIM:616897 MESH:D010009 C05.116.099.708/616897|C16.320.728/616897 C05.116.099.708|C16.320.728 OCLSBG Genetic disease (inborn)|Musculoskeletal disease Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension MESH:C563478 OMIM:166990 MESH:D006849|MESH:D006973|MESH:D010009|MESH:D013921|MESH:D061085 C05.116.099.708/C563478|C10.228.140.602/C563478|C10.500.034/C563478|C14.907.489/C563478|C15.378.140.855/C563478|C16.131.666.034/C563478|C16.320.728/C563478|C23.300.008/C563478 C05.116.099.708|C10.228.140.602|C10.500.034|C14.907.489|C15.378.140.855|C16.131.666.034|C16.320.728|C23.300.008 Blood disease|Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Osteochondrodysplasias MESH:D010009 DO:DOID:0111788|DO:DOID:12721|DO:DOID:2256|OMIM:239100|OMIM:255800|OMIM:309350|OMIM:313400 Abnormal development of cartilage and bone. MESH:D001848|MESH:D030342 C05.116.099.708|C16.320.728 C05.116.099|C16.320 Chondrodystrophic Myotonia|Chondrodystrophy, Myotonic|Dyschondroplasia|Dyschondroplasias|Dysplasia, Spondyloepiphyseal|Endosteal Hyperostosis, Autosomal Recessive|Hyperostosis Corticalis Generalisata|Hyperphosphatasemia Tarda|Late Onset Spondyloepiphyseal Dysplasia|Late-Onset Spondyloepiphyseal Dysplasia|Late Spondyloepiphyseal Dysplasia|Melnick Needles Osteodysplasty|Melnick-Needles Osteodysplasty|Melnick Needles Syndrome|Melnick-Needles Syndrome|MNS|Multiple Epiphyseal Dysplasia|Myotonia, Chondrodystrophic|Myotonic Chondrodystrophy|Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities|Osteochondrodysplasia|Osteodysplasty, Melnick-Needles|Osteodysplasty of Melnick and Needles|Schwartz Jampel Aberfeld syndrome|Schwartz-Jampel-Aberfeld Syndrome|Schwartz Jampel Syndrome|Schwartz-Jampel Syndrome|Schwartz Jampel Syndrome, Type 1|Schwartz-Jampel Syndrome, Type 1|SEDT|SED Tarda|SED TARDA, X-LINKED|SEDT, X-Linked|SED, X-Linked|SJA Syndrome|SJS|SJS1|Sost-Related Sclerosing Bone Dysplasia|Sost Sclerosing Bone Dysplasia|Spondylo-Epimetaphyseal Dysplasia With Myotonia|Spondyloepiphyseal Dysplasia|Spondyloepiphyseal Dysplasia, Late|Spondyloepiphyseal Dysplasia, Late-Onset|Spondyloepiphyseal Dysplasia Tarda, X Linked|Spondyloepiphyseal Dysplasia Tarda, X-Linked|Syndrome, Schwartz-Jampel-Aberfeld|Van Buchem Disease|VBCH|X Linked SED|X-Linked SED|X Linked SEDT|X-Linked SEDT|X Linked Spondyloepiphyseal Dysplasia Tarda|X-Linked Spondyloepiphyseal Dysplasia Tarda Genetic disease (inborn)|Musculoskeletal disease Osteochondroma MESH:D015831 A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors. MESH:D010009|MESH:D018213 C04.557.450.565.575.610|C05.116.099.708.670 C04.557.450.565.575|C05.116.099.708 Cartilaginous Exostoses|Cartilaginous Exostosis|Chondrosteoma|Chondrosteomas|Exostoses, Cartilaginous|Exostoses, Osteocartilaginous|Exostosis, Cartilaginous|Exostosis, Osteocartilaginous|Osteocartilaginous Exostoses|Osteocartilaginous Exostosis|Osteochondromas Cancer|Musculoskeletal disease Osteochondromatosis MESH:D018216 A condition marked by the presence of multiple osteochondromas. (Dorland, 27th ed) MESH:D015831 C04.557.450.565.575.610.615|C05.116.099.708.670.615 C04.557.450.565.575.610|C05.116.099.708.670 Osteochondromatoses Cancer|Musculoskeletal disease Osteochondrosis MESH:D055034 DO:DOID:7489|DO:DOID:8125 Any of a group of bone disorders involving one or more ossification centers (EPIPHYSES). It is characterized by degeneration or NECROSIS followed by revascularization and reossification. Osteochondrosis often occurs in children causing varying degrees of discomfort or pain. There are many eponymic types for specific affected areas, such as tarsal navicular (Kohler disease) and tibial tuberosity (Osgood-Schlatter disease). MESH:D001847 C05.116.821 C05.116 Koehler Disease|Koehler's Disease|Koehlers Disease|Navicular Osteochondroses|Navicular Osteochondrosis|Osgood Schlatter Disease|Osgood-Schlatter Disease|Osteochondroses|Osteochondroses, Navicular|Osteochondrosis, Navicular Musculoskeletal disease Osteodysplasia, Familial, Anderson Type MESH:C564923 MESH:D010009 C05.116.099.708/C564923|C16.320.728/C564923 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski MESH:C564922 MESH:D010009 C05.116.099.708/C564922|C16.320.728/C564922 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Osteofibrous Dysplasia MESH:C563276 OMIM:607278 MESH:D001848 C05.116.099/C563276 C05.116.099 OFD|OSFD|OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO|TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM Musculoskeletal disease Osteogenesis Imperfecta MESH:D010013 DO:DOID:0110334|DO:DOID:12347|OMIM:166200 COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I. MESH:D003095|MESH:D010009|MESH:D030342 C05.116.099.708.685|C16.320.737|C17.300.200.540 C05.116.099.708|C16.320|C17.300.200 Brittle Bone Disease|Disease, Lobstein|Disease, Lobstein's|Fragilitas Ossium|Lobstein Disease|Lobstein's Disease|Lobsteins Disease|OI1|OI, TYPE I|Ossiums, Fragilitas|Osteogenesis Imperfecta Tarda|Osteogenesis Imperfecta Tardas|Osteogenesis Imperfecta, Type 1|Osteogenesis Imperfecta, Type I|Osteogenesis Imperfecta with Blue Sclerae Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteogenesis imperfecta congenita, microcephaly, and cataracts MESH:C537558 MESH:D002386|MESH:D008831|MESH:D010013 C05.116.099.708.685/C537558|C05.660.207.620/C537558|C10.500.507.400.500/C537558|C11.510.245/C537558|C16.131.621.207.620/C537558|C16.131.666.507.400.500/C537558|C16.320.737/C537558|C17.300.200.540/C537558 C05.116.099.708.685|C05.660.207.620|C10.500.507.400.500|C11.510.245|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.737|C17.300.200.540 Congenital abnormality|Connective tissue disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Osteogenesis imperfecta, Levin type MESH:C536039 DO:DOID:0111533 MESH:D010013 C05.116.099.708.685/C536039|C16.320.737/C536039|C17.300.200.540/C536039 C05.116.099.708.685|C16.320.737|C17.300.200.540 Gnathodiaphyseal Dysplasia|Gnathodiaphyseal Sclerosis|Levin syndrome 2|Osteogenesis imperfecta with unusual skeletal lesions Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteogenesis imperfecta, type 1A MESH:C536041 MESH:D003811|MESH:D010013 C05.116.099.708.685/C536041|C07.650.800.270/C536041|C07.793.700.270/C536041|C16.131.850.800.270/C536041|C16.320.737/C536041|C17.300.200.540/C536041 C05.116.099.708.685|C07.650.800.270|C07.793.700.270|C16.131.850.800.270|C16.320.737|C17.300.200.540 OI1A Osteogenesis imperfecta 1A|OI, type 1A Osteogenesis imperfecta, type 1A|OI, type IA Osteogenesis imperfecta, type IA|Osteogenesis imperfecta, type 1, with dentinogenesis imperfecta|Osteogenesis Imperfecta, Type I, with Dentinogenesis Imperfecta|Osteogenesis imperfecta with opalescent teeth Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Osteogenesis imperfecta, type 2A MESH:C536042 OMIM:166210 MESH:D010013 C05.116.099.708.685/C536042|C16.320.737/C536042|C17.300.200.540/C536042 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI2|OI2A Osteogenesis imperfecta 2A|OIC|OI, type 2A Osteogenesis imperfecta, type 2A|OI, TYPE II|OI, type IIA Osteogenesis imperfecta, type IIA|Osteogenesis imperfecta congenita|Osteogenesis imperfecta congenita, perinatal lethal form|OSTEOGENESIS IMPERFECTA, TYPE II|Osteogenesis Imperfecta, Type IIA|Vrolik Disease|Vrolik type of osteogenesis imperfecta Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteogenesis imperfecta, type 2B MESH:C536043 MESH:D010013 C05.116.099.708.685/C536043|C16.320.737/C536043|C17.300.200.540/C536043 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI, type 2B Osteogenesis imperfecta, type 2B|OI, type IIB Osteogenesis imperfecta, type IIB|Osteogenesis imperfecta, perinatal lethal, autosomal recessive|Osteogenesis Imperfecta, Type IIB Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteogenesis imperfecta, type 3 MESH:C536044 OMIM:259420 MESH:D010013 C05.116.099.708.685/C536044|C16.320.737/C536044|C17.300.200.540/C536044 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI3|OI3 Osteogenesis imperfecta 3|OI, type 3 Osteogenesis imperfecta, type 3|OI, TYPE III|OI, type III Osteogenesis imperfecta, type III|Osteogenesis imperfecta, progressively deforming, with normal sclerae|Osteogenesis Imperfecta, Type III Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteogenesis imperfecta, type 6 MESH:C536047 OMIM:613982 MESH:D010013 C05.116.099.708.685/C536047|C16.320.737/C536047|C17.300.200.540/C536047 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI6|OI6 Osteogenesis imperfecta 6|OI, type 6 Osteogenesis imperfecta, type 6|OI, Type VI|OI, type VI Osteogenesis imperfecta, type VI|Osteogenesis Imperfecta, Type VI Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteogenesis Imperfecta, Type IV MESH:C000631847 OMIM:166220 MESH:D010013 C05.116.099.708.685/C000631847|C16.320.737/C000631847|C17.300.200.540/C000631847 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI4|OI, type 4 Osteogenesis imperfecta, type 4|OI, TYPE IV|OI, type IV Osteogenesis imperfecta, type IV|Osteogenesis imperfecta, type 4|OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteogenesis Imperfecta, Type IX MESH:C564921 OMIM:259440 MESH:D010013 C05.116.099.708.685/C564921|C16.320.737/C564921|C17.300.200.540/C564921 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI9|OI9 Osteogenesis Imperfecta 9|OI, type 9 Osteogenesis Imperfecta, type 9|OI, Type IX|OI, type IX Osteogenesis Imperfecta, type IX|Osteogenesis Imperfecta, Sillence Type II-III, Without Abnormality of Type I Collagen Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteogenesis Imperfecta, Type V MESH:C567042 OMIM:610967 MESH:D010013 C05.116.099.708.685/C567042|C16.320.737/C567042|C17.300.200.540/C567042 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI5|OI5 Osteogenesis Imperfecta 5|OI, type 5 Osteogenesis Imperfecta, Type 5|OI, Type V|OI, type V Osteogenesis Imperfecta, Type V|Osteogenesis imperfecta, type 5|Osteogenesis imperfecta with normal sclerae Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteogenesis Imperfecta Type VII MESH:C565200 DO:DOID:0110337|OMIM:610682 MESH:D010013 C05.116.099.708.685/C565200|C16.320.737/C565200|C17.300.200.540/C565200 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI2B, FORMERLY|OI7|OI7 Osteogenesis Imperfecta 7|OI type 7 Osteogenesis Imperfecta Type 7|OI, Type VII|OI type VII Osteogenesis Imperfecta Type VII|Osteogenesis imperfecta, type 7|OSTEOGENESIS IMPERFECTA, TYPE IIB, FORMERLY|Osteogenesis Imperfecta, Type VII Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteogenesis imperfecta, type VIII MESH:C536049 OMIM:610915 MESH:D010013 C05.116.099.708.685/C536049|C16.320.737/C536049|C17.300.200.540/C536049 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI8|OI8 Osteogenesis imperfecta 8|OI, type 8 Osteogenesis imperfecta, type 8|OI, TYPE VIII|OI, type VIII Osteogenesis imperfecta, type VIII Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease OSTEOGENESIS IMPERFECTA, TYPE X OMIM:613848 DO:DOID:0110346 MESH:D010013 C05.116.099.708.685/613848|C16.320.737/613848|C17.300.200.540/613848 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI10|OI, TYPE X Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease OSTEOGENESIS IMPERFECTA, TYPE XI OMIM:610968 DO:DOID:0110351 MESH:D010013 C05.116.099.708.685/610968|C16.320.737/610968|C17.300.200.540/610968 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI11|OI, TYPE XI Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease OSTEOGENESIS IMPERFECTA, TYPE XII OMIM:613849 DO:DOID:0110348 MESH:D010013 C05.116.099.708.685/613849|C16.320.737/613849|C17.300.200.540/613849 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI12|OI, TYPE XII Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease OSTEOGENESIS IMPERFECTA, TYPE XIII OMIM:614856 DO:DOID:0110342 MESH:D010013 C05.116.099.708.685/614856|C16.320.737/614856|C17.300.200.540/614856 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI13|OI, TYPE XIII Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease OSTEOGENESIS IMPERFECTA, TYPE XIV OMIM:615066 DO:DOID:0110343 MESH:D010013 C05.116.099.708.685/615066|C16.320.737/615066|C17.300.200.540/615066 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI14|OI, TYPE XIV Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease OSTEOGENESIS IMPERFECTA, TYPE XV OMIM:615220 DO:DOID:0110347 MESH:D010013 C05.116.099.708.685/615220|C16.320.737/615220|C17.300.200.540/615220 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI15|OI, TYPE XV Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease OSTEOGENESIS IMPERFECTA, TYPE XVII OMIM:616507 DO:DOID:0110338 MESH:D010013 C05.116.099.708.685/616507|C16.320.737/616507|C17.300.200.540/616507 C05.116.099.708.685|C16.320.737|C17.300.200.540 OI17 Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures MESH:C563487 MESH:D003811|MESH:D010013|MESH:D015422 C05.116.099.708.685/C563487|C07.650.800.270/C563487|C07.793.700.270/C563487|C11.790/C563487|C16.131.850.800.270/C563487|C16.320.737/C563487|C17.300.200.540/C563487 C05.116.099.708.685|C07.650.800.270|C07.793.700.270|C11.790|C16.131.850.800.270|C16.320.737|C17.300.200.540 Congenital abnormality|Connective tissue disease|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Osteoglophonic dwarfism MESH:C536050 DO:DOID:0111532|OMIM:166250 MESH:D010009 C05.116.099.708/C536050|C16.320.728/C536050 C05.116.099.708|C16.320.728 Fairbank-Keats syndrome|OGD|OSTEOGLOPHONIC DWARFISM|Osteoglophonic dysplasia Genetic disease (inborn)|Musculoskeletal disease Osteolysis MESH:D010014 Dissolution of bone that particularly involves the removal or loss of calcium. MESH:D001862 C05.116.264.579 C05.116.264 Osteolyses Musculoskeletal disease Osteolysis, Essential MESH:D010015 DO:DOID:4837 Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (HAJDU-CHENEY SYNDROME), or carpal/tarsal. MESH:D001848|MESH:D010014 C05.116.099.736|C05.116.264.579.704 C05.116.099|C05.116.264.579 Cystic Angiomatosis Of Bone, Diffuse|Disappearing Bone Disease|Essential Osteolyses|Essential Osteolysis|Gorham Disease|Gorham's Disease|Gorhams Disease|Gorham Stout Disease|Gorham-Stout Disease|Idiopathic Multicentric Osteolyses|Idiopathic Multicentric Osteolysis|Massive Osteolyses|Massive Osteolysis|Multicentric Osteolyses, Idiopathic|Multicentric Osteolysis, Idiopathic|Osteolyses, Essential|Osteolysis, Idiopathic Multicentric|Osteolysis, Massive Musculoskeletal disease Osteolysis hereditary multicentric MESH:C536051 OMIM:259600 MESH:D010014 C05.116.264.579/C536051 C05.116.264.579 Al-Aqeel Sewairi Syndrome|Hereditary multicentric osteolysis|MONA|Multicentric Osteolysis, Nodulosis, and Arthropathy|NAO SYNDROME|Nodulosis-Arthropathy-Osteolysis Syndrome|Osteolysis, Hereditary Multicentric|Torg osteolysis syndrome|Torg Syndrome|Torg-Winchester Syndrome|TORG-WINCHESTER SYNDROME, FORMERLY Musculoskeletal disease Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy MESH:C567171 DO:DOID:0111534 MESH:D010014 C05.116.264.579/C567171 C05.116.264.579 Multicentric Osteolysis, Autosomal Dominant Musculoskeletal disease Osteolysis syndrome recessive MESH:C536052 MESH:D006130|MESH:D008607|MESH:D010014|MESH:D019066 C05.116.264.579/C536052|C10.597.606.360/C536052|C23.550.291.812/C536052|C23.550.393/C536052|C23.888.592.604.646/C536052|F03.625.539/C536052 C05.116.264.579|C10.597.606.360|C23.550.291.812|C23.550.393|C23.888.592.604.646|F03.625.539 Osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance|Osteolysis Syndrome, Recessive Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Osteoma MESH:D010016 A benign tumor composed of bone tissue or a hard tumor of bonelike structure developing on a bone (homoplastic osteoma) or on other structures (heteroplastic osteoma). (From Dorland, 27th ed) MESH:D018213 C04.557.450.565.575.625 C04.557.450.565.575 Osteomas Cancer Osteomalacia MESH:D010018 Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis. MESH:D012279 C05.116.198.816.640|C18.452.104.816.640|C18.452.174.845.640|C18.654.521.500.133.770.734.640 C05.116.198.816|C18.452.104.816|C18.452.174.845|C18.654.521.500.133.770.734 Adult Rickets|Rickets, Adult Metabolic disease|Musculoskeletal disease|Nutrition disorder Osteoma of Cranial Vault, Familial MESH:C566356 MESH:D010016|MESH:D012888 C04.557.450.565.575.625/C566356|C04.588.149.721/C566356|C05.116.231.754/C566356 C04.557.450.565.575.625|C04.588.149.721|C05.116.231.754 Cancer|Musculoskeletal disease Osteoma of Middle Ear MESH:C564917 MESH:D010016 C04.557.450.565.575.625/C564917 C04.557.450.565.575.625 Cancer Osteoma, Osteoid MESH:D010017 A benign osteoblastic tumor with central vascularized nidus surrounded by normal reactive bone. It occurs especially in second decade of life most commonly in the femoral neck but can occur in any bone and any site within a bone. MESH:D010016 C04.557.450.565.575.625.625 C04.557.450.565.575.625 Osteoid Osteoma|Osteoid Osteomas|Osteomas, Osteoid Cancer Osteomas Of Mandible MESH:C563485 MESH:D008339|MESH:D010016 C04.557.450.565.575.625/C563485|C04.588.149.721.450.583/C563485|C05.116.231.754.450.583/C563485|C05.500.499.583/C563485|C05.500.607.442/C563485|C07.320.515.583/C563485|C07.320.610.583/C563485 C04.557.450.565.575.625|C04.588.149.721.450.583|C05.116.231.754.450.583|C05.500.499.583|C05.500.607.442|C07.320.515.583|C07.320.610.583 Cancer|Mouth disease|Musculoskeletal disease Osteomyelitis MESH:D010019 INFLAMMATION of the bone as a result of infection. It may be caused by a variety of infectious agents, especially pyogenic (PUS - producing) BACTERIA. MESH:D001850 C01.160.495|C05.116.165.495 C01.160|C05.116.165 Osteomyelitides Musculoskeletal disease Osteonecrosis MESH:D010020 DO:DOID:10159 Death of a bone or part of a bone, either atraumatic or posttraumatic. MESH:D001847|MESH:D009336 C05.116.852|C23.550.717.732 C05.116|C23.550.717 Aseptic Necrosis of Bone|Avascular Necrosis of Bone|Bone Aseptic Necrosis|Bone Avascular Necrosis|Bone Necroses|Bone Necrosis|Kienbock Disease|Kienbock's Disease|Kienboeck Disease|Kienboeck's Disease|Kienboecks Disease|Necroses, Bone|Necrosis, Aseptic, of Bone|Necrosis, Avascular, of Bone|Necrosis, Bone|Osteonecroses Musculoskeletal disease|Pathology (process) Osteopathia striata cranial sclerosis MESH:C536053 DO:DOID:0060886|OMIM:300373 MESH:D010026 C05.116.099.708.702/C536053 C05.116.099.708.702 Hyperostosis Generalisata with Striations|OSCS|Osteopathia Striata with Cranial Sclerosis Musculoskeletal disease Osteopenic Nonfracture Syndrome MESH:C567172 MESH:D010013 C05.116.099.708.685/C567172|C16.320.737/C567172|C17.300.200.540/C567172 C05.116.099.708.685|C16.320.737|C17.300.200.540 Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteopetrosis MESH:D010022 DO:DOID:0110938|DO:DOID:13533|OMIM:166600 Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY). MESH:D010026 C05.116.099.708.702.678 C05.116.099.708.702 Albers Schoenberg Disease|Albers-Schoenberg Disease|Albers Schonberg Disease|Albers-Schonberg Disease|Albers Schönberg Disease|Albers-Schönberg Disease|Albers Schonberg Disease, Autosomal Dominant|Albers-Schonberg Disease, Autosomal Dominant|Autosomal Dominant Osteopetrosis Type 2|Congenital Osteopetrosis|Disease, Albers-Schoenberg|Disease, Albers-Schonberg|Disease, Albers-Schönberg|Disease, Marble Bone|Marble Bone Disease|Marble Bones, Autosomal Dominant|OPTA2|Osteopetroses|Osteopetrosis, Autosomal Dominant 2|Osteopetrosis Autosomal Dominant Type 2|Osteopetrosis, Autosomal Dominant, Type II|Osteosclerosis Fragilis|Osteosclerosis Fragilis Generalisata|Osteosclerosis Fragilis Generalisatas Musculoskeletal disease Osteopetrosis and infantile neuroaxonal dystrophy MESH:C536055 MESH:D010022|MESH:D019150 C05.116.099.708.702.678/C536055|C10.228.140.744/C536055 C05.116.099.708.702.678|C10.228.140.744 Infantile osteopetrosis and neuronal storage disease|Prenatal axonal dystrophy and osteopetrosis Musculoskeletal disease|Nervous system disease Osteopetrosis autosomal dominant type 1 MESH:C536056 DO:DOID:0110937|OMIM:607634 MESH:D010022 C05.116.099.708.702.678/C536056 C05.116.099.708.702.678 OPTA1|Osteopetrosis, Autosomal Dominant 1|Osteopetrosis, Autosomal Dominant, Type I Musculoskeletal disease Osteopetrosis, Autosomal Recessive 1 MESH:C564915 OMIM:259700 MESH:D010022 C05.116.099.708.702.678/C564915 C05.116.099.708.702.678 Albers-Schonberg Disease, Autosomal Recessive|Marble Bones, Autosomal Recessive|OPTB1|Osteopetrosis, Infantile Malignant 1 Musculoskeletal disease OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 OMIM:259710 DO:DOID:0110943 MESH:D010022 C05.116.099.708.702.678/259710 C05.116.099.708.702.678 OPTB2|OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM|OSTEOPETROSIS, OSTEOCLAST-POOR Musculoskeletal disease Osteopetrosis, Autosomal Recessive 4 MESH:C566933 OMIM:611490 MESH:D010022 C05.116.099.708.702.678/C566933 C05.116.099.708.702.678 OPTB4|OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4|Osteopetrosis, Infantile Malignant 2 Musculoskeletal disease Osteopetrosis, Autosomal Recessive 5 MESH:C566883 OMIM:259720 MESH:D010022 C05.116.099.708.702.678/C566883 C05.116.099.708.702.678 OPTB5|Osteopetrosis, Infantile Malignant 3 Musculoskeletal disease Osteopetrosis, Autosomal Recessive 6 MESH:C566931 OMIM:611497 MESH:D010022 C05.116.099.708.702.678/C566931 C05.116.099.708.702.678 OPTB6|Osteopetrosis, Autosomal Recessive, Intermediate Form Musculoskeletal disease Osteopetrosis, Autosomal Recessive 7 MESH:C567354 OMIM:612301 MESH:D000361|MESH:D010022 C05.116.099.708.702.678/C567354|C15.378.147.142/C567354|C15.604.515.032/C567354|C20.673.088/C567354 C05.116.099.708.702.678|C15.378.147.142|C15.604.515.032|C20.673.088 OPTB7|Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia Blood disease|Immune system disease|Lymphatic disease|Musculoskeletal disease OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 OMIM:615085 DO:DOID:0110940 MESH:D010022 C05.116.099.708.702.678/615085 C05.116.099.708.702.678 OPTB8 Musculoskeletal disease Osteopetrosis lethal MESH:C536057 MESH:D010022 C05.116.099.708.702.678/C536057 C05.116.099.708.702.678 Autosomal malignant osteopetrosis|Lethal osteopetrosis Musculoskeletal disease Osteopetrosis, mild autosomal recessive form MESH:C536059 MESH:D010022 C05.116.099.708.702.678/C536059 C05.116.099.708.702.678 Mild autosomal recessive form of osteopetrosis|Osteopetrosis, Autosomal Recessive 2|Osteopetrosis, Osteoclast-Poor Musculoskeletal disease Osteopetrosis with renal tubular acidosis MESH:C536058 OMIM:259730 MESH:D000141|MESH:D010022|MESH:D056806 C05.116.099.708.702.678/C536058|C10.228.140.163.100.937/C536058|C12.050.351.968.419.815.093/C536058|C12.200.777.419.815.093/C536058|C12.950.419.815.093/C536058|C16.320.565.100.940/C536058|C16.320.565.189.937/C536058|C16.320.831.093/C536058|C18.452.076.176.210/C536058|C18.452.132.100.937/C536058|C18.452.648.100.940/C536058|C18.452.648.189.937/C536058 C05.116.099.708.702.678|C10.228.140.163.100.937|C12.050.351.968.419.815.093|C12.200.777.419.815.093|C12.950.419.815.093|C16.320.565.100.940|C16.320.565.189.937|C16.320.831.093|C18.452.076.176.210|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937 Carbonic anhydrase 2 deficiency|Carbonic Anhydrase II Deficiency|Guibaud Vainsel syndrome|Guibaud-Vainsel Syndrome|Marble brain disease|OPTB3|Osteopetrosis, Autosomal Recessive 3|OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Osteophyte MESH:D054850 Bony outgrowth usually found around joints and often seen in conditions such as ARTHRITIS. MESH:D005096 C05.116.540.310.800 C05.116.540.310 Bone Spur|Bone Spurs|Osteophytes|Spur, Bone|Spurs, Bone Musculoskeletal disease Osteopoikilosis MESH:D010023 DO:DOID:11991 An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35) MESH:D003240|MESH:D010026 C05.116.099.708.702.685|C17.300.705 C05.116.099.708.702|C17.300 Osteopoikiloses Connective tissue disease|Musculoskeletal disease Osteopoikilosis and dacryocystitis MESH:C536061 MESH:D003607|MESH:D010023 C05.116.099.708.702.685/C536061|C11.496.221/C536061|C17.300.705/C536061 C05.116.099.708.702.685|C11.496.221|C17.300.705 Dacryocystitis osteopoikilosis|Gunal Seber Basaran syndrome Connective tissue disease|Eye disease|Musculoskeletal disease Osteopoikilosis, Isolated MESH:C563484 MESH:D010023|MESH:D012873 C05.116.099.708.702.685/C563484|C16.320.850/C563484|C17.300.705/C563484|C17.800.827/C563484 C05.116.099.708.702.685|C16.320.850|C17.300.705|C17.800.827 Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Osteoporosis MESH:D010024 DO:DOID:11476|OMIM:166710|OMIM:601884|OMIM:615221 Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. MESH:D001851 C05.116.198.579|C18.452.104.579 C05.116.198|C18.452.104 Age-Related Bone Loss|Age-Related Bone Losses|Age-Related Osteoporoses|Age Related Osteoporosis|Age-Related Osteoporosis|BMND|BMND1|BMND16|Bone Loss, Age Related|Bone Loss, Age-Related|Bone Losses, Age-Related|BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS|BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1|BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16|HBM, INCLUDED|HIGH BONE MASS, INCLUDED|Osteoporoses|Osteoporoses, Age-Related|Osteoporoses, Senile|Osteoporosis, Age Related|Osteoporosis, Age-Related|OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO|Osteoporosis, Involutional|OSTEOPOROSIS, INVOLUTIONAL FRACTURE, HIP, SUSCEPTIBILITY TO, INCLUDED|OSTEOPOROSIS, POSTMENOPAUSAL|Osteoporosis, Post Traumatic|Osteoporosis, Post-Traumatic|Osteoporosis, Senile|OSTEOPOROSIS, SUSCEPTIBILITY TO, INCLUDED|Post-Traumatic Osteoporoses|Post-Traumatic Osteoporosis|Senile Osteoporoses|Senile Osteoporosis Metabolic disease|Musculoskeletal disease Osteoporosis, Postmenopausal MESH:D015663 Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. MESH:D010024 C05.116.198.579.610|C18.452.104.579.610 C05.116.198.579|C18.452.104.579 Bone Losses, Perimenopausal|Bone Losses, Postmenopausal|Bone Loss, Perimenopausal|Bone Loss, Postmenopausal|Osteoporoses, Postmenopausal|Osteoporoses, Post-Menopausal|Osteoporosis, Post Menopausal|Osteoporosis, Post-Menopausal|Perimenopausal Bone Loss|Perimenopausal Bone Losses|Postmenopausal Bone Loss|Postmenopausal Bone Losses|Postmenopausal Osteoporoses|Post-Menopausal Osteoporoses|Postmenopausal Osteoporosis|Post-Menopausal Osteoporosis Metabolic disease|Musculoskeletal disease Osteoporosis-pseudoglioma syndrome MESH:C536063 DO:DOID:0060849|OMIM:259770 MESH:D010013 C05.116.099.708.685/C536063|C16.320.737/C536063|C17.300.200.540/C536063 C05.116.099.708.685|C16.320.737|C17.300.200.540 OPPG|OPS|Osteogenesis imperfecta, ocular form|Pseudoglioma with bone fragility Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Osteoporotic Fractures MESH:D058866 Breaks in bones resulting from low bone mass and microarchitectural deterioration characteristic of OSTEOPOROSIS. MESH:D050723 C26.404.545 C26.404 Fracture, Osteoporotic|Fractures, Osteoporotic|Osteoporotic Fracture Wounds and injuries Osteoradionecrosis MESH:D010025 Necrosis of bone following radiation injury. MESH:D011832 C26.733.579 C26.733 Osteoradionecroses Wounds and injuries Osteosarcoma MESH:D012516 DO:DOID:3347|OMIM:259500 A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed) MESH:D012509|MESH:D018213 C04.557.450.565.575.650|C04.557.450.795.620 C04.557.450.565.575|C04.557.450.795 OSRC|Osteogenic Sarcoma|Osteogenic Sarcomas|OSTEOSARCOMA|Osteosarcomas|Osteosarcoma Tumor|Osteosarcoma Tumors|Sarcoma, Osteogenic|Sarcomas, Osteogenic|Tumor, Osteosarcoma|Tumors, Osteosarcoma Cancer Osteosarcoma, Juxtacortical MESH:D018217 DO:DOID:3373 A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed) MESH:D012516 C04.557.450.565.575.650.655|C04.557.450.795.620.655 C04.557.450.565.575.650|C04.557.450.795.620 Juxtacortical Osteosarcoma|Juxtacortical Osteosarcomas|Osteosarcomas, Juxtacortical Cancer Osteosarcoma, Retinoblastoma-Related MESH:C566714 MESH:D012175|MESH:D012516 C04.557.450.565.575.650/C566714|C04.557.450.795.620/C566714|C04.557.465.625.600.725/C566714|C04.557.470.670.725/C566714|C04.557.580.625.600.725/C566714|C04.588.364.818.760/C566714|C11.270.862/C566714|C11.319.475.760/C566714|C11.768.717.760/C566714 C04.557.450.565.575.650|C04.557.450.795.620|C04.557.465.625.600.725|C04.557.470.670.725|C04.557.580.625.600.725|C04.588.364.818.760|C11.270.862|C11.319.475.760|C11.768.717.760 Cancer|Eye disease Osteosclerosis MESH:D010026 DO:DOID:4254 An abnormal hardening or increased density of bone tissue. MESH:D010009 C05.116.099.708.702 C05.116.099.708 Osteoscleroses Musculoskeletal disease Osteosclerosis with Ichthyosis and Fractures MESH:C563483 MESH:D007057|MESH:D010026|MESH:D050723 C05.116.099.708.702/C563483|C16.131.831.512/C563483|C16.614.492/C563483|C17.800.428.333/C563483|C17.800.804.512/C563483|C26.404/C563483 C05.116.099.708.702|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512|C26.404 Cortical Thickening of Long Bones with Bowing and Ichthyosis Congenital abnormality|Infant-newborn disease|Musculoskeletal disease|Skin disease|Wounds and injuries Osteosclerosis with ichthyosis and premature ovarian failure MESH:C536064 MESH:D001848|MESH:D012598|MESH:D016112|MESH:D016649 C05.116.099/C536064|C12.050.351.500.056.630.750/C536064|C12.100.250.056.630.750/C536064|C16.131.831.512.410/C536064|C16.320.850.405/C536064|C17.800.428.333.410/C536064|C17.800.804.512.410/C536064|C17.800.827.405/C536064|C19.391.630.750/C536064|C23.550.823/C536064 C05.116.099|C12.050.351.500.056.630.750|C12.100.250.056.630.750|C16.131.831.512.410|C16.320.850.405|C17.800.428.333.410|C17.800.804.512.410|C17.800.827.405|C19.391.630.750|C23.550.823 Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Skin disease|Urogenital disease (female) Osteosclerotic Chondrodysplasia, Lethal, With Intracellular Inclusions MESH:C566378 MESH:D010026 C05.116.099.708.702/C566378 C05.116.099.708.702 Musculoskeletal disease Ostertagiasis MESH:D010029 DO:DOID:3985 A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus OSTERTAGIA. MESH:D014252 C01.610.335.508.700.775.825.580 C01.610.335.508.700.775.825 Ostertagiases Parasitic disease Otitis MESH:D010031 Inflammation of the ear, which may be marked by pain (EARACHE), fever, HEARING DISORDERS, and VERTIGO. Inflammation of the external ear is OTITIS EXTERNA; of the middle ear, OTITIS MEDIA; of the inner ear, LABYRINTHITIS. MESH:D004427 C09.218.705 C09.218 Ear Infection|Ear Infections|Ear Inflammation|Ear Inflammations|Infection, Ear|Infections, Ear|Inflammation, Ear|Inflammations, Ear|Otitides Ear-nose-throat disease Otitis Externa MESH:D010032 Inflammation of the OUTER EAR including the external EAR CANAL, cartilages of the auricle (EAR CARTILAGE), and the TYMPANIC MEMBRANE. MESH:D010031 C09.218.705.496 C09.218.705 Ear Inflammation, External|External Ear Inflammation|External Ear Inflammations|External Otitides|External Otitis|Externa, Otitis|Inflammation, External Ear|Otitides, External|Otitis, External Ear-nose-throat disease Otitis Media MESH:D010033 DO:DOID:10754|OMIM:166760 Inflammation of the MIDDLE EAR including the AUDITORY OSSICLES and the EUSTACHIAN TUBE. MESH:D010031 C09.218.705.663 C09.218.705 COME/ROM|Inflammation, Middle Ear|Middle Ear Inflammation|OMS|OTITIS MEDIA, CHRONIC/RECURRENT|OTITIS MEDIA, SUSCEPTIBILITY TO Ear-nose-throat disease Otitis Media, Suppurative MESH:D010035 DO:DOID:11506 Inflammation of the middle ear with purulent discharge. MESH:D010033|MESH:D013492 C01.830.694|C09.218.705.663.680 C01.830|C09.218.705.663 Otitis Media, Purulent|Purulent Otitis Media|Suppurative Otitis Media Ear-nose-throat disease Otitis Media with Effusion MESH:D010034 Inflammation of the middle ear with a clear pale yellow-colored transudate. MESH:D010033 C09.218.705.663.670 C09.218.705.663 Ear Effusion, Middle|Ear Effusions, Middle|Effusion, Middle Ear|Effusions, Middle Ear|Middle Ear Effusion|Middle Ear Effusions|Otitis Media, Secretory|Otitis Media, Serous|Secretory Otitis Media|Serous Otitis Media Ear-nose-throat disease Otocephaly MESH:C562503 DO:DOID:0060341 MESH:D019465 C05.660.207/C562503|C16.131.621.207/C562503 C05.660.207|C16.131.621.207 Agnathia-otocephaly complex Congenital abnormality|Musculoskeletal disease Otodental Dysplasia MESH:C563482 MESH:D002872|MESH:D003103|MESH:D006319|MESH:D014071|MESH:D025063 C07.650.800/C563482|C07.793.700/C563482|C09.218.458.341.887/C563482|C10.597.751.418.341.887/C563482|C11.250.110/C563482|C11.270.147/C563482|C16.131.260/C563482|C16.131.384.282/C563482|C16.131.850.800/C563482|C16.320.180/C563482|C23.550.210.050.500.500/C563482|C23.888.592.763.393.341.887/C563482 C07.650.800|C07.793.700|C09.218.458.341.887|C10.597.751.418.341.887|C11.250.110|C11.270.147|C16.131.260|C16.131.384.282|C16.131.850.800|C16.320.180|C23.550.210.050.500.500|C23.888.592.763.393.341.887 Chromosome 11q13 Deletion Syndrome|Oculootodental Syndrome|Otodental Syndrome|Otodental Syndrome With Coloboma Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Mouth disease|Nervous system disease|Pathology (process)|Signs and symptoms Otofaciocervical Syndrome MESH:C563481 OMIM:166780|OMIM:615560 MESH:D019280 C16.131.077.208/C563481|C16.131.260.090/C563481|C16.320.180.090/C563481 C16.131.077.208|C16.131.260.090|C16.320.180.090 Familial oto-facio-cervical dysmorphia|Fara Chlupackova syndrome|OFC|OFC1|OFC2|Ofc Syndrome|OTFCS|OTFCS2|OTOFACIOCERVICAL SYNDROME 1|OTOFACIOCERVICAL SYNDROME 2, WITH T-CELL DEFICIENCY Congenital abnormality|Genetic disease (inborn) Otofacioosseous-Gonadal Syndrome MESH:C566597 MESH:D003456|MESH:D006319|MESH:D019465 C05.660.207/C566597|C09.218.458.341.887/C566597|C10.597.751.418.341.887/C566597|C12.100.500.829.258/C566597|C12.200.294.829.258/C566597|C12.200.706.258/C566597|C12.800.258/C566597|C16.131.621.207/C566597|C16.131.939.258/C566597|C19.391.829.258/C566597|C23.888.592.763.393.341.887/C566597 C05.660.207|C09.218.458.341.887|C10.597.751.418.341.887|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C16.131.621.207|C16.131.939.258|C19.391.829.258|C23.888.592.763.393.341.887 Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (male) Otomycosis MESH:D059249 DO:DOID:0050147 Fungus infection of the external ear, usually by ASPERGILLUS species MESH:D004427|MESH:D009181 C01.150.703.658|C09.218.736 C01.150.703|C09.218 Otomycoses Bacterial infection or mycosis|Ear-nose-throat disease Otoonychoperoneal Syndrome MESH:C564912 MESH:D009264|MESH:D019066 C23.300.820/C564912|C23.550.291.812/C564912 C23.300.820|C23.550.291.812 Pathology (anatomical condition)|Pathology (process) Otopalatodigital Spectrum Disorder MESH:C567577 MESH:D006228|MESH:D010009|MESH:D019465 C05.116.099.708/C567577|C05.390.408/C567577|C05.660.207/C567577|C05.660.585.988.425/C567577|C16.131.621.207/C567577|C16.131.621.585.988.500/C567577|C16.320.728/C567577 C05.116.099.708|C05.390.408|C05.660.207|C05.660.585.988.425|C16.131.621.207|C16.131.621.585.988.500|C16.320.728 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Oto-Palato-digital syndrome type 1 MESH:C536065 DO:DOID:0111783|OMIM:311300 MESH:D006228|MESH:D010009|MESH:D019465 C05.116.099.708/C536065|C05.390.408/C536065|C05.660.207/C536065|C05.660.585.988.425/C536065|C16.131.621.207/C536065|C16.131.621.585.988.500/C536065|C16.320.728/C536065 C05.116.099.708|C05.390.408|C05.660.207|C05.660.585.988.425|C16.131.621.207|C16.131.621.585.988.500|C16.320.728 FRONTOOTOPALATODIGITAL OSTEODYSPLASIA, INCLUDED|OPD1|OPD I SYNDROME|OPD SYNDROME 1 OTOPALATODIGITAL SPECTRUM DISORDER, INCLUDED|Opd Syndrome, Type 1|Otopalatodigital syndrome, type 1|Otopalatodigital Syndrome Type 1|Otopalatodigital Syndrome, Type I|Taybi syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Oto-palato-digital syndrome, type 2 MESH:C538089 DO:DOID:0111784|OMIM:304120 MESH:D006228|MESH:D010009|MESH:D019465 C05.116.099.708/C538089|C05.390.408/C538089|C05.660.207/C538089|C05.660.585.988.425/C538089|C16.131.621.207/C538089|C16.131.621.585.988.500/C538089|C16.320.728/C538089 C05.116.099.708|C05.390.408|C05.660.207|C05.660.585.988.425|C16.131.621.207|C16.131.621.585.988.500|C16.320.728 Andre syndrome|Cranio-oro-digital syndrome|Cranioorodigital Syndrome|Faciopalatoosseous syndrome|FPO|OPD2|OPD II Syndrome|OPD Syndrome 2|OPD Syndrome, Type 2|Otopalatodigital syndrome type 2|Otopalatodigital Syndrome, Type II Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Otorhinolaryngologic Diseases MESH:D010038 Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. MESH:C C09 C Disease, ENT|Disease, Otolaryngologic|Disease, Otolaryngological|Disease, Otorhinolaryngologic|Disease, Otorhinolaryngological|Diseases, ENT|Diseases, Otolaryngologic|Diseases, Otolaryngological|Diseases, Otorhinolaryngologic|Diseases, Otorhinolaryngological|ENT Disease|ENT Diseases|Otolaryngological Disease|Otolaryngological Diseases|Otolaryngologic Disease|Otolaryngologic Diseases|Otorhinolaryngological Disease|Otorhinolaryngological Diseases|Otorhinolaryngologic Disease Ear-nose-throat disease Otorhinolaryngologic Neoplasms MESH:D010039 A general concept for tumors or cancer of any part of the EAR; the NOSE; the THROAT; and the PHARYNX. It is used when there is no specific heading. MESH:D006258|MESH:D010038 C04.588.443.665|C09.647 C04.588.443|C09 Cancer, Otorhinolaryngeal|Cancers, Otorhinolaryngeal|Neoplasm, Ootorhinolaryngeal|Neoplasm, Otorhinolaryngologic|Neoplasm, Otorhinolaryngological|Neoplasms, Ootorhinolaryngeal|Neoplasms, Otorhinolaryngologic|Neoplasms, Otorhinolaryngological|Ootorhinolaryngeal Neoplasm|Ootorhinolaryngeal Neoplasms|Otorhinolaryngeal Cancer|Otorhinolaryngeal Cancers|Otorhinolaryngological Neoplasm|Otorhinolaryngological Neoplasms|Otorhinolaryngologic Neoplasm Cancer|Ear-nose-throat disease Otosclerosis MESH:D010040 OMIM:166800 Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. MESH:D004427 C09.218.768 C09.218 Otoscleroses|OTOSCLEROSIS 1|Otospongioses|Otospongiosis|OTS|OTSC1 Ear-nose-throat disease Otosclerosis 2 MESH:C565302 OMIM:605727 MESH:D010040 C09.218.768/C565302 C09.218.768 OTSC2 Ear-nose-throat disease Otosclerosis 3 MESH:C564268 OMIM:608244 MESH:D010040 C09.218.768/C564268 C09.218.768 OTSC3 Ear-nose-throat disease Otosclerosis 4 MESH:C566914 OMIM:611571 MESH:D010040 C09.218.768/C566914 C09.218.768 OTSC4 Ear-nose-throat disease Otosclerosis 5 MESH:C563858 OMIM:608787 MESH:D010040 C09.218.768/C563858 C09.218.768 OTSC5 Ear-nose-throat disease Otosclerosis 7 MESH:C566913 OMIM:611572 MESH:D010040 C09.218.768/C566913 C09.218.768 OTSC7 Ear-nose-throat disease Otosclerosis 8 MESH:C567421 OMIM:612096 MESH:D010040 C09.218.768/C567421 C09.218.768 OTSC8 Ear-nose-throat disease OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE OMIM:215150 DO:DOID:0080026 MESH:C536140|MESH:D006319|MESH:D010009 C05.116.099.343/C536140/215150|C05.116.099.708/215150|C05.116.099.708/C536140/215150|C09.218.458.341.887/215150|C10.597.751.418.341.887/215150|C16.320.240/C536140/215150|C16.320.728/215150|C16.320.728/C536140/215150|C19.297/C536140/215150|C23.888.592.763.393.341.887/215150 C05.116.099.343/C536140|C05.116.099.708|C05.116.099.708/C536140|C09.218.458.341.887|C10.597.751.418.341.887|C16.320.240/C536140|C16.320.728|C16.320.728/C536140|C19.297/C536140|C23.888.592.763.393.341.887 CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS|NANCE-INSLEY SYNDROME|NANCE-SWEENEY CHONDRODYSPLASIA|OSMED|OSMEDB|WEISSENBACHER-ZWEYMULLER SYNDROME, FORMERLY|WZS, FORMERLY Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Ototoxicity MESH:D000081015 Damage to the EAR or its function secondary to exposure to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION. MESH:D004427|MESH:D010335|MESH:D011832|MESH:D064420 C09.218.788|C23.550.753|C25.100.656|C26.733.650 C09.218|C23.550|C25.100|C26.733 Cochlear Toxicities, Drug-Related|Cochlear Toxicity, Drug-Induced|Cochlear Toxicity, Drug-Related|Cochleotoxicities, Drug-Related|Cochleotoxicity, Drug-Induced|Cochleotoxicity, Drug-Related|Drug-Induced Cochlear Toxicities|Drug Induced Cochlear Toxicity|Drug-Induced Cochlear Toxicity|Drug Induced Cochleotoxicity|Drug-Induced Cochleotoxicity|Drug-Induced Otological Toxicities|Drug Induced Otological Toxicity|Drug-Induced Otological Toxicity|Drug Induced Ototoxicity|Drug-Induced Ototoxicity|Drug Induced Vestibular Toxicity|Drug-Induced Vestibular Toxicity|Drug Induced Vestibulotoxicity|Drug-Induced Vestibulotoxicity|Drug-Related Cochlear Toxicities|Drug Related Cochlear Toxicity|Drug-Related Cochlear Toxicity|Drug Related Cochleotoxicity|Drug-Related Cochleotoxicity|Drug-Related Otological Toxicities|Drug Related Otological Toxicity|Drug-Related Otological Toxicity|Drug-Related Ototoxicities|Drug Related Ototoxicity|Drug-Related Ototoxicity|Otological Toxicity, Drug-Induced|Otological Toxicity, Drug-Related|Ototoxicities|Ototoxicities, Drug-Related|Ototoxicity, Drug-Induced|Ototoxicity, Drug-Related|Vestibular Toxicity, Drug-Induced|Vestibulotoxicity, Drug-Induced Ear-nose-throat disease|Pathology (process)|Wounds and injuries Out-of-Hospital Cardiac Arrest MESH:D058687 Occurrence of heart arrest in an individual when there is no immediate access to medical personnel or equipment. MESH:D006323 C14.280.383.610 C14.280.383 Cardiac Arrest, Out-of-Hospital|Cardiac Arrests, Out-of-Hospital|Heart Arrest, Out-of-Hospital|Heart Arrests, Out-of-Hospital|Out of Hospital Cardiac Arrest|Out-of-Hospital Cardiac Arrests|Out of Hospital Heart Arrest|Out-of-Hospital Heart Arrest|Out-of-Hospital Heart Arrests Cardiovascular disease Ovalocytosis, Hereditary Hemolytic MESH:C563480 MESH:D004612 C15.378.071.141.150.365/C563480|C16.320.070.365/C563480 C15.378.071.141.150.365|C16.320.070.365 Blood disease|Genetic disease (inborn) Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis MESH:C563479 MESH:D004612 C15.378.071.141.150.365/C563479|C16.320.070.365/C563479 C15.378.071.141.150.365|C16.320.070.365 Blood disease|Genetic disease (inborn) Ovarian Cysts MESH:D010048 General term for CYSTS and cystic diseases of the OVARY. MESH:D003560|MESH:D010049 C04.182.612|C12.050.351.500.056.630.580|C12.100.250.056.630.580|C19.391.630.580 C04.182|C12.050.351.500.056.630|C12.100.250.056.630|C19.391.630 Corpus Luteum Cyst|Corpus Luteum Cysts|Cyst, Corpus Luteum|Cyst, Ovarian|Cysts, Corpus Luteum|Cysts, Ovarian|Ovarian Cyst Cancer|Endocrine system disease|Urogenital disease (female) Ovarian Diseases MESH:D010049 DO:DOID:1100 Pathological processes of the OVARY. MESH:D000291|MESH:D006058 C12.050.351.500.056.630|C12.100.250.056.630|C19.391.630 C12.050.351.500.056|C12.100.250.056|C19.391 Disease, Ovarian|Diseases, Ovarian|Ovarian Disease Endocrine system disease|Urogenital disease (female) OVARIAN DYSGENESIS 1 OMIM:233300 DO:DOID:0080493 MESH:D010049 C12.050.351.500.056.630/233300|C12.100.250.056.630/233300|C19.391.630/233300 C12.050.351.500.056.630|C12.100.250.056.630|C19.391.630 GONADAL DYSGENESIS, XX TYPE|ODG1|OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE|OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE|OVARIAN FAILURE, HYPERGONADOTROPIC|XXGD|XX GONADAL DYSGENESIS Endocrine system disease|Urogenital disease (female) Ovarian Dysgenesis 2 MESH:C564499 DO:DOID:0080494|OMIM:300510 MESH:D006059|MESH:D040181 C12.050.351.875.253.309/C564499|C12.200.706.316.309/C564499|C12.800.316.309/C564499|C16.131.939.316.309/C564499|C16.320.322/C564499|C19.391.119.309/C564499 C12.050.351.875.253.309|C12.200.706.316.309|C12.800.316.309|C16.131.939.316.309|C16.320.322|C19.391.119.309 ODG2|Ovarian Dysgenesis, Hypergonadotropic, X-Linked|Ovarian Failure, Hypergonadotropic, Due To Ovarian Dysgenesis|OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESIS PREMATURE OVARIAN FAILURE 4, INCLUDED|POF4, INCLUDED|Premature Ovarian Failure 4 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) OVARIAN DYSGENESIS 3 OMIM:614324 DO:DOID:0080495 MESH:D010049 C12.050.351.500.056.630/614324|C12.100.250.056.630/614324|C19.391.630/614324 C12.050.351.500.056.630|C12.100.250.056.630|C19.391.630 ODG3 Endocrine system disease|Urogenital disease (female) OVARIAN DYSGENESIS 4 OMIM:616185 DO:DOID:0080496 MESH:D010049 C12.050.351.500.056.630/616185|C12.100.250.056.630/616185|C19.391.630/616185 C12.050.351.500.056.630|C12.100.250.056.630|C19.391.630 ODG4 Endocrine system disease|Urogenital disease (female) Ovarian Fibromata MESH:C562391 MESH:D005350|MESH:D010051 C04.557.450.565.590.340/C562391|C04.588.322.455/C562391|C12.050.351.500.056.630.705/C562391|C12.050.351.937.418.685/C562391|C12.100.250.056.630.705/C562391|C12.900.418.685/C562391|C19.344.410/C562391|C19.391.630.705/C562391 C04.557.450.565.590.340|C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C19.344.410|C19.391.630.705 Cancer|Endocrine system disease|Urogenital disease (female) Ovarian Germ Cell Cancer MESH:C562841 DO:DOID:2155 MESH:D009373|MESH:D010051 C04.557.465/C562841|C04.588.322.455/C562841|C12.050.351.500.056.630.705/C562841|C12.050.351.937.418.685/C562841|C12.100.250.056.630.705/C562841|C12.900.418.685/C562841|C19.344.410/C562841|C19.391.630.705/C562841 C04.557.465|C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C19.344.410|C19.391.630.705 Cancer|Endocrine system disease|Urogenital disease (female) Ovarian gynandroblastoma MESH:C538459 MESH:D018312 C04.557.475.750/C538459 C04.557.475.750 Cancer Ovarian Hyperstimulation Syndrome MESH:D016471 DO:DOID:5425|OMIM:608115 A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES. MESH:D010049 C12.050.351.500.056.630.642|C12.100.250.056.630.642|C19.391.630.642 C12.050.351.500.056.630|C12.100.250.056.630|C19.391.630 Hyperstimulation Syndrome, Ovarian|Hyperstimulation Syndromes, Ovarian|OHSS|Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous|Ovarian Hyperstimulation Syndromes Endocrine system disease|Urogenital disease (female) Ovarian Neoplasms MESH:D010051 DO:DOID:2394|OMIM:167000|OMIM:607893 Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. MESH:D004701|MESH:D005833|MESH:D010049 C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C19.344.410|C19.391.630.705 C04.588.322|C12.050.351.500.056.630|C12.050.351.937.418|C12.100.250.056.630|C12.900.418|C19.344|C19.391.630 Cancer of Ovary|Cancer of the Ovary|Cancer, Ovarian|Cancer, Ovary|Cancers, Ovarian|Cancers, Ovary|Neoplasm, Ovarian|Neoplasm, Ovary|Neoplasms, Ovarian|Neoplasms, Ovary|Ovarian Cancer|OVARIAN CANCER, EPITHELIAL, INCLUDED|Ovarian Cancers|OVARIAN CANCER, SUSCEPTIBILITY TO, 1|Ovarian Neoplasm|Ovary Cancer|Ovary Cancers|Ovary Neoplasm|Ovary Neoplasms|OVCAS1 Cancer|Endocrine system disease|Urogenital disease (female) Ovarian Torsion MESH:D000082843 A condition that occurs when an ovary twists around the ligaments that hold it in place. This twisting can cut off blood flow. It usually affects only one ovary. MESH:D010049|MESH:D014102 C12.050.351.500.056.630.728|C12.100.250.056.630.728|C19.391.630.728|C23.300.970.625 C12.050.351.500.056.630|C12.100.250.056.630|C19.391.630|C23.300.970 Adnexal Torsion|Adnexal Torsions|Ovarian Torsions|Torsion, Adnexal|Torsion, Ovarian|Torsions, Adnexal|Torsions, Ovarian Endocrine system disease|Pathology (anatomical condition)|Urogenital disease (female) Overbite MESH:D057887 A malocclusion in which maxillary incisor and canine teeth project over the mandibular teeth excessively. The overlap is measured perpendicular to the occlusal plane and is also called vertical overlap. When the overlap is measured parallel to the occlusal plane it is referred to as overjet. MESH:D008312 C07.793.494.630.500 C07.793.494.630 Deep Bite|Deep-Bite|Deep Bites|Deep-Bites|Dental Overjet|Dental Overjets|Incisor Protrusion|Incisor Protrusions|Over Bite|Overbites|Over Bites|Overjet, Dental|Protrusion, Incisor Mouth disease Overnutrition MESH:D044343 DO:DOID:654 An imbalanced NUTRITIONAL STATUS resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as OBESITY. MESH:D009748 C18.654.726 C18.654 Hypernutrition Nutrition disorder Overtraining Syndrome MESH:D000095027 An accumulation of training and/or non-training stress resulting in short-term decrement in performance capacity with or without related physiological and psychological signs and symptoms of maladaptation in which restoration of performance capacity may take from several weeks to several months.(from Curr Sports Med Rep. May-Jun 2015;14(3):157-8) MESH:D005221 C23.888.369.750 C23.888.369 Exercise Overtraining|Overtraining, Exercise|Over Training Syndrome|Over-Training Syndrome|Syndrome, Overtraining|Syndrome, Over-Training Signs and symptoms Overweight MESH:D050177 A status with BODY WEIGHT that is above certain standards. In the scale of BODY MASS INDEX, overweight is defined as having a BMI of 25.0-29.9 kg/m2. Overweight may or may not be due to increases in body fat (ADIPOSE TISSUE), hence overweight does not equal 'over fat'. MESH:D001835|MESH:D044343 C18.654.726.750|C23.888.144.699 C18.654.726|C23.888.144 Nutrition disorder|Signs and symptoms Ovotesticular Disorders of Sex Development MESH:D050090 Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism. MESH:D012734 C12.050.351.875.253.343|C12.200.706.316.343|C12.800.316.343|C16.131.939.316.343|C19.391.119.343 C12.050.351.875.253|C12.200.706.316|C12.800.316|C16.131.939.316|C19.391.119 46,XX Gonadal Dysgenesis, Complete, Sry-Positive|46,XX True Hermaphroditism, Sry-Positive|DSD, Ovotesticular|DSDs, Ovotesticular|Familial True Hermaphroditism|Familial True Hermaphroditisms|Familial XX True Hermaphroditism|Hermaphroditism, Familial True|Hermaphroditisms, Familial True|Hermaphroditisms, True|Hermaphroditism, True|Ovotesticular Disorder Of Sex Development|Ovotesticular DSD|Ovotesticular DSDs|True Hermaphroditism|True Hermaphroditism, Familial|True Hermaphroditisms|True Hermaphroditisms, Familial|XX Male Syndrome, Sry Positive|XX Male Syndrome, Sry-Positive Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Oxyuriasis MESH:D010123 DO:DOID:7457 Infection with nematodes of the superfamily OXYUROIDEA. MESH:D017194 C01.610.335.508.700.550.550 C01.610.335.508.700.550 Aspiculariases|Aspiculariasis|Oxyuriases Parasitic disease Oxyurida Infections MESH:D017194 Infections with nematodes of the order OXYURIDA. MESH:D017190 C01.610.335.508.700.550 C01.610.335.508.700 Infection, Oxyurida|Infections, Oxyurida|Oxyurida Infection Parasitic disease Pachydermodactyly, Familial MESH:C563947 MESH:D005350 C04.557.450.565.590.340/C563947 C04.557.450.565.590.340 Cancer Pachygyria, frontotemporal MESH:C538092 MESH:D054082 C10.500.507.450.499/C538092|C16.131.666.507.450.499/C538092 C10.500.507.450.499|C16.131.666.507.450.499 Autosomal recessive frontotemporal pachygyria Congenital abnormality|Nervous system disease PACHYGYRIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT, SEIZURES, AND ARACHNOID CYSTS OMIM:600176 MESH:D008607|MESH:D012640|MESH:D016080|MESH:D054082 C04.182.044/600176|C04.588.614.250.387.100/600176|C10.500.142.100/600176|C10.500.507.450.499/600176|C10.551.240.375.100/600176|C10.597.606.360/600176|C10.597.742/600176|C16.131.666.142.100/600176|C16.131.666.507.450.499/600176|C23.888.592.604.646/600176|C23.888.592.742/600176|F03.625.539/600176 C04.182.044|C04.588.614.250.387.100|C10.500.142.100|C10.500.507.450.499|C10.551.240.375.100|C10.597.606.360|C10.597.742|C16.131.666.142.100|C16.131.666.507.450.499|C23.888.592.604.646|C23.888.592.742|F03.625.539 PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES|PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Cancer|Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms Pachyonychia Congenita MESH:D053549 DO:DOID:0050449|OMIM:167200|OMIM:167210|OMIM:615726|OMIM:615728 A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS. MESH:D004476|MESH:D009260 C16.131.077.350.856|C16.131.831.350.856|C16.320.850.250.856|C17.800.529.594|C17.800.804.350.856|C17.800.827.250.856 C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.529|C17.800.804.350|C17.800.827.250 Congenital Pachyonychia|Jackson Lawler Syndrome (Pc 2)|Jackson-Lawler Syndrome (Pc-2)|Jackson Lawler Type Pachyonychia Congenita|Jackson-Lawler Type Pachyonychia Congenita|Jadassohn Lewandowski Syndrome (Pc 1)|Jadassohn-Lewandowski Syndrome (Pc-1)|Jadassohn Lewandowsky Syndrome|Jadassohn-Lewandowsky Syndrome|JADASSOHN-LEWANDOWSKY SYNDROME, FORMERLY|PACHYONYCHIA CONGENITA 1|PACHYONYCHIA CONGENITA 2|PACHYONYCHIA CONGENITA 3|PACHYONYCHIA CONGENITA 4|Pachyonychia Congenita Jackson Lawler Type|Pachyonychia Congenita, Jackson Lawler Type|Pachyonychia Congenita, Jackson-Lawler Type|PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE, FORMERLY|Pachyonychia Congenita, Jadassohn Lewandowsky Type|Pachyonychia Congenita, Jadassohn-Lewandowsky Type|PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE, FORMERLY|Pachyonychia, Congenital|Pachyonychia Congenita Syndrome|Pachyonychia Congenita Tarda, Type 1|Pachyonychia Congenita Type 1|Pachyonychia Congenita, Type 1|Pachyonychia Congenita, Type 2|PC1|PC2|PC3|PC4|Syndrome, Jackson-Lawler (Pc-2)|Syndrome, Jadassohn-Lewandowski (Pc-1)|Type 1 Pachyonychia Congenita|Type 2 Pachyonychia Congenita Congenital abnormality|Genetic disease (inborn)|Skin disease Pachyonychia congenita recessive MESH:C538094 MESH:D053549 C16.131.077.350.856/C538094|C16.131.831.350.856/C538094|C16.320.850.250.856/C538094|C17.800.529.594/C538094|C17.800.804.350.856/C538094|C17.800.827.250.856/C538094 C16.131.077.350.856|C16.131.831.350.856|C16.320.850.250.856|C17.800.529.594|C17.800.804.350.856|C17.800.827.250.856 Autosomal recessive pachyonychia congenita|Pachyonychia Congenita, Recessive Congenital abnormality|Genetic disease (inborn)|Skin disease Pacific coast tick fever MESH:C000722847 MESH:D000073605 C01.150.252.400.789.725.400/C000722847|C01.920.930.887/C000722847 C01.150.252.400.789.725.400|C01.920.930.887 364D rickettsiosis|Rickettsia 364D infection|Rickettsia phillipi infection Bacterial infection or mycosis Pacman dysplasia MESH:C538095 MESH:D002806 C05.116.099.708.195/C538095 C05.116.099.708.195 Epiphyseal stippling with osteoclastic hyperplasia|Pacman syndrome Musculoskeletal disease Paget Disease, Extramammary MESH:D010145 DO:DOID:3450 A rare cutaneous neoplasm that occurs in the elderly. It develops more frequently in women and predominantly involves apocrine gland-bearing areas, especially the vulva, scrotum, and perianal areas. The lesions develop as erythematous scaly patches that progress to crusted, pruritic, erythematous plaques. The clinical differential diagnosis includes squamous cell carcinoma in situ and superficial fungal infection. It is generally thought to be an adenocarcinoma of the epidermis, from which it extends into the contiguous epithelium of hair follicles and eccrine sweat ducts. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1478) MESH:D000230|MESH:D018299 C04.557.470.200.025.660|C04.557.470.615.660 C04.557.470.200.025|C04.557.470.615 Extramammary Paget Disease|Extramammary, Paget Disease|Extra Mammary Paget Disease|Extra-Mammary Paget Disease|Extramammary Paget's Disease|Extramammary Pagets Disease|Extra Mammary Paget's Disease|Extra-Mammary Paget's Disease|Extra-Mammary Pagets Disease|Paget Disease Extramammary|Paget Disease, Extra Mammary|Paget Disease, Extra-Mammary|Paget's Disease, Extramammary|Pagets Disease, Extramammary|Paget's Disease, Extra Mammary|Paget's Disease, Extra-Mammary|Pagets Disease, Extra-Mammary Cancer Paget Disease Of Bone 4 MESH:C565240 OMIM:606263 MESH:D010001 C05.116.692/C565240 C05.116.692 PDB4 Musculoskeletal disease PAGET DISEASE OF BONE 5, JUVENILE-ONSET OMIM:239000 DO:DOID:0081368 MESH:D010001 C05.116.692/239000 C05.116.692 HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS|HYPERPHOSPHATASEMIA, CHRONIC CONGENITAL IDIOPATHIC|HYPERPHOSPHATASIA, FAMILIAL IDIOPATHIC|JPD|JUVENILE PAGET DISEASE|OSTEOECTASIA, FAMILIAL|PDB5 Musculoskeletal disease Pagetoid Reticulosis MESH:D056267 A distinct variant of mycosis fungoides characterized by the presence of localized patches or plaques with an intraepidermal proliferation of neoplastic cells. MESH:D009182 C04.557.386.480.750.800.550.600|C15.604.515.569.480.750.800.550.600|C20.683.515.761.480.750.800.550.600 C04.557.386.480.750.800.550|C15.604.515.569.480.750.800.550|C20.683.515.761.480.750.800.550 Disease, Ketron-Goodman|Disease, Woringer Kolopp|Disease, Woringer-Kolopp|Ketron Goodman Disease|Ketron-Goodman Disease|Kolopp Disease, Woringer|Pagetoid Reticuloses|Reticuloses, Pagetoid|Reticulosis, Pagetoid|Woringer Kolopp Disease|Woringer-Kolopp Disease Cancer|Immune system disease|Lymphatic disease Paget's Disease, Mammary MESH:D010144 An intraductal in situ carcinoma of the breast, characterized clinically by eczema-like inflammatory skin changes and histologically by infiltration of the dermis by malignant cells (Paget's cells). MESH:D000071960|MESH:D002285 C04.557.470.200.240.187.500|C04.557.470.615.275.625 C04.557.470.200.240.187|C04.557.470.615.275 Disease, Mammary Paget|Disease, Mammary Paget's|Mammary Paget Disease|Mammary Paget's Disease|Mammary Pagets Disease|Paget Disease, Breast|Paget Disease, Mammary|Paget Disease of Breast|Pagets Disease, Breast|Pagets Disease, Mammary|Paget's Disease of Breast|Paget's Disease of the Breast|Paget's Disease of the Nipple|Paget's Disease of the Nipple and Areola|Pigmented Mammary Paget Disease Cancer Pagon Stephan syndrome MESH:C538100 MESH:D025962 C10.292.562.700.375.875/C538100|C10.500.034.937/C538100|C10.500.760.500/C538100|C11.590.436.400.875/C538100|C16.131.666.034.937/C538100|C16.131.666.763.500/C538100 C10.292.562.700.375.875|C10.500.034.937|C10.500.760.500|C11.590.436.400.875|C16.131.666.034.937|C16.131.666.763.500 Septo-optic dysplasia with digital anomalies Congenital abnormality|Eye disease|Nervous system disease Pain MESH:D010146 An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. MESH:D009461 C23.888.592.612 C23.888.592 Ache|Aches|Burning Pain|Burning Pains|Crushing Pain|Crushing Pains|Migratory Pain|Migratory Pains|Pain, Burning|Pain, Crushing|Pain, Migratory|Pain, Radiating|Pains, Burning|Pains, Crushing|Pains, Migratory|Pain, Splitting|Pains, Radiating|Pains, Splitting|Physical Suffering|Physical Sufferings|Radiating Pain|Radiating Pains|Splitting Pain|Splitting Pains|Suffering, Physical|Sufferings, Physical Signs and symptoms Paine syndrome MESH:C538101 OMIM:311400 MESH:D002547|MESH:D008831 C05.660.207.620/C538101|C10.228.140.140.254/C538101|C10.500.507.400.500/C538101|C16.131.621.207.620/C538101|C16.131.666.507.400.500/C538101 C05.660.207.620|C10.228.140.140.254|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500 Microcephaly with spastic diplegia|MICROCEPHALY WITH SPASTIC DIPLEGIA SEEMANOVA SYNDROME I, INCLUDED|Seemanova Syndrome I Congenital abnormality|Musculoskeletal disease|Nervous system disease Pain Insensitivity, Congenital MESH:D000699 DO:DOID:0070145 A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) MESH:D010523|MESH:D030342 C10.668.829.700|C16.320.775 C10.668.829|C16.320 Analgesia, Congenital|Channelopathy-Associated Insensitivity To Pain|Congenital Analgesia|Congenital Indifference to Pain|Congenital Insensitivity To Pain|Congenital Pain Indifference|Congenital Pain Indifferences|Congenital Pain Insensitivity|Insensitivity, Congenital Pain|Insensitivity To Pain, Congenital|Pain Indifference, Congenital Genetic disease (inborn)|Nervous system disease Pain, Intractable MESH:D010148 Persistent pain that is refractory to some or all forms of treatment. MESH:D010146 C23.888.592.612.776 C23.888.592.612 Intractable Pain|Intractable Pains|Pain, Refractory|Pains, Intractable|Pains, Refractory|Refractory Pain|Refractory Pains Signs and symptoms Pain, Postoperative MESH:D010149 Pain during the period after surgery. MESH:D010146|MESH:D011183 C23.550.767.700|C23.888.592.612.832 C23.550.767|C23.888.592.612 Acute Post operative Pain|Acute Post-operative Pain|Acute Postoperative Pain|Chronic Post operative Pain|Chronic Post-operative Pain|Chronic Postoperative Pain|Chronic Post surgical Pain|Chronic Post-surgical Pain|Chronic Postsurgical Pain|Chronic Postsurgical Pains|Pain, Acute Post-operative|Pain, Acute Postoperative|Pain, Chronic Post-operative|Pain, Chronic Postoperative|Pain, Chronic Post-surgical|Pain, Chronic Postsurgical|Pain, Persistent Postsurgical|Pain, Post operative|Pain, Post-operative|Pain, Post-surgical|Pain, Postsurgical|Persistent Postsurgical Pain|Post operative Pain|Post-operative Pain|Postoperative Pain|Post operative Pain, Acute|Post-operative Pain, Acute|Postoperative Pain, Acute|Post operative Pain, Chronic|Post-operative Pain, Chronic|Postoperative Pain, Chronic|Post-operative Pains|Post surgical Pain|Post-surgical Pain|Postsurgical Pain|Post-surgical Pain, Chronic|Postsurgical Pain, Chronic|Postsurgical Pain, Persistent Pathology (process)|Signs and symptoms Pain, Procedural MESH:D000073818 Pain associated with examination, treatment or procedures. MESH:D010146 C23.888.592.612.860 C23.888.592.612 Procedural Pain Signs and symptoms Pain, Referred MESH:D053591 A type of pain that is perceived in an area away from the site where the pain arises, such as facial pain caused by lesion of the VAGUS NERVE, or throat problem generating referred pain in the ear. MESH:D010146 C23.888.592.612.888 C23.888.592.612 Facial Pain, Referred|Referred Facial Pain|Referred Pain Signs and symptoms Palant cleft palate syndrome MESH:C538102 MESH:D000015|MESH:D002972|MESH:D008607|MESH:D017880|MESH:D019066 C05.500.460.185/C538102|C05.660.207.540.460.185/C538102|C05.660.585/C538102|C07.320.440.185/C538102|C07.465.525.185/C538102|C07.650.500.460.185/C538102|C07.650.525.185/C538102|C10.597.606.360/C538102|C16.131.077/C538102|C16.131.621.207.540.460.185/C538102|C16.131.621.585/C538102|C16.131.850.500.460.185/C538102|C16.131.850.525.185/C538102|C23.550.291.812/C538102|C23.888.592.604.646/C538102|F03.625.539/C538102 C05.500.460.185|C05.660.207.540.460.185|C05.660.585|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.597.606.360|C16.131.077|C16.131.621.207.540.460.185|C16.131.621.585|C16.131.850.500.460.185|C16.131.850.525.185|C23.550.291.812|C23.888.592.604.646|F03.625.539 Unusual facies, cleft palate, mental retardation, and limb abnormalities Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Palatal Neoplasms MESH:D010157 Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA. MESH:D007573|MESH:D009062 C04.588.149.721.450.692|C04.588.443.591.692|C05.116.231.754.450.692|C05.500.499.692|C07.320.515.692|C07.465.530.692 C04.588.149.721.450|C04.588.443.591|C05.116.231.754.450|C05.500.499|C07.320.515|C07.465.530 Neoplasm, Palatal|Neoplasms, Palatal|Palatal Neoplasm Cancer|Mouth disease|Musculoskeletal disease Palindromic rheumatism MESH:C538103 DO:DOID:1166 MESH:D001172 C05.550.114.154/C538103|C05.799.114/C538103|C17.300.775.099/C538103|C20.111.199/C538103 C05.550.114.154|C05.799.114|C17.300.775.099|C20.111.199 Palindromic rheumatism syndrome Connective tissue disease|Immune system disease|Musculoskeletal disease palinopsia MESH:C000726587 MESH:D010468|MESH:D014786 C10.597.606.762/C000726587|C10.597.751.941/C000726587|C11.966/C000726587|C23.888.592.604.764/C000726587|C23.888.592.763.941/C000726587 C10.597.606.762|C10.597.751.941|C11.966|C23.888.592.604.764|C23.888.592.763.941 hallucinatory palinopsia|illusory palinopsia Eye disease|Nervous system disease|Signs and symptoms Pallidal Degeneration, Progressive, with Retinitis Pigmentosa MESH:C564910 MESH:D001480|MESH:D012174 C10.228.140.079/C564910|C11.270.684/C564910|C11.768.585.658.500/C564910|C16.320.290.684/C564910 C10.228.140.079|C11.270.684|C11.768.585.658.500|C16.320.290.684 Eye disease|Genetic disease (inborn)|Nervous system disease Pallidopontonigral Degeneration MESH:C563003 DO:DOID:9255 MESH:D057180 C10.228.140.380.266.299/C563003|C10.574.950.300.299/C563003|C18.452.845.800.300.299/C563003|F03.615.400.380.299/C563003 C10.228.140.380.266.299|C10.574.950.300.299|C18.452.845.800.300.299|F03.615.400.380.299 Mental disorder|Metabolic disease|Nervous system disease Pallidopyramidal syndrome MESH:C538104 OMIM:260300 MESH:D001764|MESH:D010302 C10.228.140.079.862.800/C538104|C10.228.662.600.700/C538104|C11.338.250/C538104 C10.228.140.079.862.800|C10.228.662.600.700|C11.338.250 Pallido-pyramidal disease|Pallido-Pyramidal Syndrome|PALLIDOPYRAMIDAL SYNDROME|PARK15|Parkinson Disease 15, Autosomal Recessive|PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET|Parkinsonian-Pyramidal Syndrome|PKPS Eye disease|Nervous system disease Pallister-Hall Syndrome MESH:D054975 DO:DOID:9248|OMIM:146510 A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member. MESH:D000015|MESH:D006222|MESH:D007029|MESH:D017689 C04.445.622|C04.588.614.250.195.885.500.299|C05.660.585.600.374|C10.228.140.211.885.500.299|C10.228.140.617.477.299|C10.551.240.250.700.500.249|C16.131.077.690|C16.131.621.585.600.374 C04.445|C04.588.614.250.195.885.500|C05.660.585.600|C10.228.140.211.885.500|C10.228.140.617.477|C10.551.240.250.700.500|C16.131.077|C16.131.621.585.600 CAVE Complex|CAVE Complices|Cerebroacrovisceral Early Lethality Complex|Complex, CAVE|Complices, CAVE|Hall Pallister Syndrome|Hall-Pallister Syndrome|Hamartoblastoma Syndrome, Hypothalamic|Hamartoblastoma Syndromes, Hypothalamic|Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly|Hypothalamic Hamartoblastoma Syndrome|Hypothalamic Hamartoblastoma Syndromes|Pallister Hall Syndrome|PHS|Syndrome, Hall-Pallister|Syndrome, Hypothalamic Hamartoblastoma|Syndrome, Pallister-Hall|Syndromes, Hypothalamic Hamartoblastoma Cancer|Congenital abnormality|Musculoskeletal disease|Nervous system disease Pallister Killian syndrome MESH:C538105 MESH:D025063 C16.131.260/C538105|C16.320.180/C538105 C16.131.260|C16.320.180 Hexasomy 12p, Mosaic|Isochromosome 12p syndrome|Pallister-Killian Mosaic Syndrome|Pallister-Killian Syndrome|Teschler-Nicola-Killian Syndrome|Tetrasomy 12p, mosaic Congenital abnormality|Genetic disease (inborn) Pallister W syndrome MESH:C538106 MESH:D000015|MESH:D008607|MESH:D019465 C05.660.207/C538106|C10.597.606.360/C538106|C16.131.077/C538106|C16.131.621.207/C538106|C23.888.592.604.646/C538106|F03.625.539/C538106 C05.660.207|C10.597.606.360|C16.131.077|C16.131.621.207|C23.888.592.604.646|F03.625.539 Median cleft upper lip, mental retardation and pugilistic facies|W syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Pallor MESH:D010167 A clinical manifestation consisting of an unnatural paleness of the skin. MESH:D012877 C23.888.885.500 C23.888.885 Pallors Signs and symptoms Palmer Pagon syndrome MESH:C538107 MESH:D006849 C10.228.140.602/C538107 C10.228.140.602 Nervous system disease PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING OMIM:615225 MESH:D002294|MESH:D003230|MESH:D007636|MESH:D012878 C04.557.470.200.400/615225|C04.557.470.700.400/615225|C04.588.364.235/615225|C04.588.805/615225|C11.187.169/615225|C11.319.217/615225|C17.800.417/615225|C17.800.882/615225 C04.557.470.200.400|C04.557.470.700.400|C04.588.364.235|C04.588.805|C11.187.169|C11.319.217|C17.800.417|C17.800.882 CIDED, FORMERLY|CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, FORMERLY|MSPC Cancer|Eye disease|Skin disease Palmoplantar Hyperkeratosis And True Hermaphroditism MESH:C567165 MESH:D007645|MESH:D058531 C12.050.351.875.253.064.124/C567165|C12.200.706.316.064.124/C567165|C12.800.316.064.124/C567165|C16.131.939.316.064.124/C567165|C16.320.850.475/C567165|C17.800.428.435/C567165|C17.800.827.475/C567165|C19.391.119.064.124/C567165 C12.050.351.875.253.064.124|C12.200.706.316.064.124|C12.800.316.064.124|C16.131.939.316.064.124|C16.320.850.475|C17.800.428.435|C17.800.827.475|C19.391.119.064.124 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Skin disease|Urogenital disease (female)|Urogenital disease (male) Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal MESH:C565693 OMIM:610644 MESH:D002294|MESH:D007645|MESH:D012878|MESH:D058531 C04.557.470.200.400/C565693|C04.557.470.700.400/C565693|C04.588.805/C565693|C12.050.351.875.253.064.124/C565693|C12.200.706.316.064.124/C565693|C12.800.316.064.124/C565693|C16.131.939.316.064.124/C565693|C16.320.850.475/C565693|C17.800.428.435/C565693|C17.800.827.475/C565693|C17.800.882/C565693|C19.391.119.064.124/C565693 C04.557.470.200.400|C04.557.470.700.400|C04.588.805|C12.050.351.875.253.064.124|C12.200.706.316.064.124|C12.800.316.064.124|C16.131.939.316.064.124|C16.320.850.475|C17.800.428.435|C17.800.827.475|C17.800.882|C19.391.119.064.124 PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, INCLUDED|PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL Cancer|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Skin disease|Urogenital disease (female)|Urogenital disease (male) PALMOPLANTAR KERATODERMA AND WOOLLY HAIR OMIM:616099 MESH:C536745|MESH:D007645 C16.320.850.475/616099|C17.800.329/C536745/616099|C17.800.428.435/616099|C17.800.827.475/616099 C16.320.850.475|C17.800.329/C536745|C17.800.428.435|C17.800.827.475 PPKWH Genetic disease (inborn)|Skin disease Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads MESH:C564171 MESH:D007645 C16.320.850.475/C564171|C17.800.428.435/C564171|C17.800.827.475/C564171 C16.320.850.475|C17.800.428.435|C17.800.827.475 Genetic disease (inborn)|Skin disease PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE OMIM:615598 MESH:D007645 C16.320.850.475/615598|C17.800.428.435/615598|C17.800.827.475/615598 C16.320.850.475|C17.800.428.435|C17.800.827.475 PPKN Genetic disease (inborn)|Skin disease Palmoplantar Keratoderma, Nonepidermolytic MESH:C563422 OMIM:600962 MESH:D015776 C16.320.850.475.440/C563422|C17.800.428.435.440/C563422|C17.800.827.475.440/C563422 C16.320.850.475.440|C17.800.428.435.440|C17.800.827.475.440 Keratoderma, Nonepidermolytic Palmoplantar|NEPPK|NEPPK Nonepidermolytic Palmoplantar Keratoderma|Nonepidermolytic Palmoplantar Keratoderma|PPKNE|TYLOSIS Genetic disease (inborn)|Skin disease PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 OMIM:613000 DO:DOID:0111709 MESH:C563422 C16.320.850.475.440/C563422/613000|C17.800.428.435.440/C563422/613000|C17.800.827.475.440/C563422/613000 C16.320.850.475.440/C563422|C17.800.428.435.440/C563422|C17.800.827.475.440/C563422 FNEPPK1|FOCAL NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA|KERATODERMA, FOCAL NONEPIDERMOLYTIC PALMOPLANTAR|PPKFNE Genetic disease (inborn)|Skin disease PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 OMIM:616400 DO:DOID:0111711 MESH:C563422 C16.320.850.475.440/C563422/616400|C17.800.428.435.440/C563422/616400|C17.800.827.475.440/C563422/616400 C16.320.850.475.440/C563422|C17.800.428.435.440/C563422|C17.800.827.475.440/C563422 FNEPPK2 Genetic disease (inborn)|Skin disease PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE OMIM:615735 DO:DOID:0111710 MESH:C563422 C16.320.850.475.440/C563422/615735|C17.800.428.435.440/C563422/615735|C17.800.827.475.440/C563422/615735 C16.320.850.475.440/C563422|C17.800.428.435.440/C563422|C17.800.827.475.440/C563422 PPKNEFD Genetic disease (inborn)|Skin disease Palmoplantar Keratoderma, Vorner Type MESH:C567914 MESH:D053546 C16.320.850.475.440.500/C567914|C17.800.428.435.440.500/C567914|C17.800.827.475.440.500/C567914 C16.320.850.475.440.500|C17.800.428.435.440.500|C17.800.827.475.440.500 Genetic disease (inborn)|Skin disease Palmoplantar Keratoderma with Deafness MESH:C536152 DO:DOID:0111505|OMIM:148350 MESH:D006319|MESH:D007645 C09.218.458.341.887/C536152|C10.597.751.418.341.887/C536152|C16.320.850.475/C536152|C17.800.428.435/C536152|C17.800.827.475/C536152|C23.888.592.763.393.341.887/C536152 C09.218.458.341.887|C10.597.751.418.341.887|C16.320.850.475|C17.800.428.435|C17.800.827.475|C23.888.592.763.393.341.887 Diffuse palmoplantar keratoderma with deafness|Focal palmoplantar keratoderma with sensorineural deafness|Hereditary palmoplantar keratoderma with deafness|Keratoderma palmoplantar deafness|Keratoderma palmoplantar, with deafness|Keratoderma, Palmoplantar, With Deafness|Palmoplantar Hyperkeratosis-Deafness Syndrome|Palmoplantar Hyperkeratosis-Hearing Loss Syndrome|Palmoplantar keratoderma and sensorineural deafness|Palmoplantar Keratoderma-Deafness Syndrome|Palmoplantar Keratoderma-Hearing Loss Syndrome|Ppk-Deafness Syndrome|Ppk with Deafness Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease Pancoast Syndrome MESH:D010178 DO:DOID:8007 A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand. MESH:D008175 C04.588.894.797.520.734|C08.381.540.734|C08.785.520.734 C04.588.894.797.520|C08.381.540|C08.785.520 Pancoast's Syndrome|Pancoasts Syndrome|Pancoast Tumor|Syndrome, Pancoast|Syndrome, Pancoast's|Tumor, Pancoast Cancer|Respiratory tract disease Pancreas agenesis, dorsal MESH:C538109 MESH:D000013 C16.131/C538109 C16.131 Agenesis of the dorsal pancreas|Pancreas, dorsal, agenesis of Congenital abnormality Pancreas Divisum MESH:D000092142 Anatomic variants in PANCREATIC DUCTS characterized by failure of fusion of the ventral and dorsal endodermal buds. Pancreas divisum results in inadequate or no communication between dorsal and ventral ducts. While most cases are asymptomatic, it may be associated with recurrent PANCREATITIS. MESH:D004065|MESH:D010182 C06.198.947|C06.689.388|C16.131.314.667 C06.198|C06.689|C16.131.314 Classic Pancreas Divisum|Classic Pancreatic Divisum|Complete Pancreas Divisum|Complete Pancreatic Divisum|Divisum, Classic Pancreatic|Divisum, Complete Pancreas|Divisum, Complete Pancreatic|Divisum, Incomplete Pancreas|Divisum, Incomplete Pancreatic|Divisum, Inverted Pancreas|Divisum, Pancreas|Divisum, Pancreatic|Divisum, Reverse Pancreas|Divisum, Reverse Pancreatic|Dominant Dorsal Duct Syndrome|Incomplete Pancreas Divisum|Incomplete Pancreatic Divisum|Inverted Pancreas Divisum|Pancreas Divisum, Classic|Pancreas Divisum, Complete|Pancreas Divisum, Incomplete|Pancreas Divisum, Inverted|Pancreas Divisum, Reverse|Pancreas Divisums|Pancreatic Divisum|Pancreatic Divisum, Classic|Pancreatic Divisum, Complete|Pancreatic Divisum, Incomplete|Pancreatic Divisum, Reverse|Pancreatic Divisums|Reverse Pancreas Divisum|Reverse Pancreatic Divisum Congenital abnormality|Digestive system disease Pancreatic adenoma MESH:C538110 MESH:D000236|MESH:D010190 C04.557.470.035/C538110|C04.588.274.761/C538110|C04.588.322.475/C538110|C06.301.761/C538110|C06.689.667/C538110|C19.344.421/C538110 C04.557.470.035|C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Cancer|Digestive system disease|Endocrine system disease Pancreatic Agenesis, Congenital MESH:C564908 OMIM:260370|OMIM:615935 MESH:D010182 C06.689/C564908 C06.689 PAGEN|PAGEN1|PAGEN2|PANCREATIC AGENESIS 1|PANCREATIC AGENESIS 2|Pancreatic Hypoplasia, Congenital|PANCREATIC HYPOPLASIA, CONGENITAL 2 Digestive system disease Pancreatic beta cell agenesis with neonatal diabetes mellitus MESH:C538111 OMIM:600089 MESH:D003920 C18.452.394.750/C538111|C19.246/C538111 C18.452.394.750|C19.246 Congenital absence of insulin-producing beta cells with diabetes mellitus Endocrine system disease|Metabolic disease Pancreatic cancer, adult MESH:C535836 MESH:D002277|MESH:D010190 C04.557.470.200/C535836|C04.588.274.761/C535836|C04.588.322.475/C535836|C06.301.761/C535836|C06.689.667/C535836|C19.344.421/C535836 C04.557.470.200|C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Cancer|Digestive system disease|Endocrine system disease Pancreatic Carcinoma MESH:C562463 DO:DOID:4905 MESH:D010190 C04.588.274.761/C562463|C04.588.322.475/C562463|C06.301.761/C562463|C06.689.667/C562463|C19.344.421/C562463 C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Pancreatic Acinar Carcinoma Cancer|Digestive system disease|Endocrine system disease Pancreatic carcinoma, familial MESH:C535837 MESH:D002277|MESH:D010190 C04.557.470.200/C535837|C04.588.274.761/C535837|C04.588.322.475/C535837|C06.301.761/C535837|C06.689.667/C535837|C19.344.421/C535837 C04.557.470.200|C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Familial Pancreatic carcinoma Cancer|Digestive system disease|Endocrine system disease Pancreatic Cyst MESH:D010181 A true cyst of the PANCREAS, distinguished from the much more common PANCREATIC PSEUDOCYST by possessing a lining of mucous EPITHELIUM. Pancreatic cysts are categorized as congenital, retention, neoplastic, parasitic, enterogenous, or dermoid. Congenital cysts occur more frequently as solitary cysts but may be multiple. Retention cysts are gross enlargements of PANCREATIC DUCTS secondary to ductal obstruction. (From Bockus Gastroenterology, 4th ed, p4145) MESH:D003560|MESH:D010182 C04.182.640|C06.689.500 C04.182|C06.689 Cyst, Pancreatic|Cysts, Pancreatic|Pancreatic Cysts Cancer|Digestive system disease Pancreatic Diseases MESH:D010182 Pathological processes of the PANCREAS. MESH:D004066 C06.689 C06 Disease, Pancreatic|Diseases, Pancreatic|Pancreatic Disease Digestive system disease Pancreatic Fistula MESH:D010185 Abnormal passage communicating with the PANCREAS. MESH:D010182|MESH:D016154 C06.267.775|C06.689.583|C23.300.575.185.775 C06.267|C06.689|C23.300.575.185 Fistula, Pancreatic|Fistulas, Pancreatic|Pancreatic Fistulas Digestive system disease|Pathology (anatomical condition) Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease MESH:C564011 MESH:D003920|MESH:D006330 C14.240.400/C564011|C14.280.400/C564011|C16.131.240.400/C564011|C18.452.394.750/C564011|C19.246/C564011 C14.240.400|C14.280.400|C16.131.240.400|C18.452.394.750|C19.246 Cardiovascular disease|Congenital abnormality|Endocrine system disease|Metabolic disease Pancreatic Insufficiency, Combined Exocrine MESH:C564907 MESH:D008661|MESH:D010188 C06.689.276/C564907|C16.320.565/C564907|C18.452.648/C564907 C06.689.276|C16.320.565|C18.452.648 Digestive system disease|Genetic disease (inborn)|Metabolic disease Pancreatic Intraductal Neoplasms MESH:D000077779 EPITHELIAL NEOPLASMS with pancreatic ductal differentiation that arise from the EXOCRINE PANCREAS and grow mostly within the PANCREATIC DUCTS. They are characterized by the presence of intraductal masses with mostly papillary growth pattern. Overt production of MUCIN within the pancreatic duct is associated with pancreatic intraductal papillary-mucinous neoplasm but not intraductal tubulopapillary neoplasm. MESH:D010190|MESH:D018299 C04.557.470.615.665|C04.588.274.761.875|C04.588.322.475.875|C06.301.761.875|C06.689.667.812|C19.344.421.875 C04.557.470.615|C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Intraductal Neoplasm, Pancreatic|Intraductal Neoplasms, Pancreatic|Intraductal Papillary Mucinous Neoplasm, Pancreatic|Intraductal Papillary-Mucinous Neoplasm, Pancreatic|Intraductal Papillary Mucinous Neoplasms of the Pancreas|Intraductal Tubulopapillary Neoplasm, Pancreatic|IPMN, Pancreatic|Neoplasm, Pancreatic Intraductal|Pancreatic Intraductal Neoplasm|Pancreatic Intraductal Papillary Mucinous Neoplasm|Pancreatic Intraductal Tubulopapillary Neoplasm|Pancreatic IPMN|Pancreatic IPMNs Cancer|Digestive system disease|Endocrine system disease PANCREATIC LIPASE DEFICIENCY OMIM:614338 MESH:D008052 C16.320.565.398/614338|C18.452.584.563/614338|C18.452.648.398/614338 C16.320.565.398|C18.452.584.563|C18.452.648.398 COLIPASE, CONGENITAL ABSENCE OF PANCREATIC, INCLUDED|LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC, INCLUDED|LIPASE AND COLIPASE, DEFICIENCY OF, INCLUDED|LIPASE, CONGENITAL ABSENCE OF PANCREATIC|PL DEFICIENCY PANCREATIC COLIPASE DEFICIENCY, INCLUDED|PNLIPD Genetic disease (inborn)|Metabolic disease Pancreatic lipomatosis duodenal stenosis MESH:C535839 MESH:D004380|MESH:D008068|MESH:D010182 C06.405.469.275.395/C535839|C06.405.469.531.311/C535839|C06.689/C535839|C17.800.463/C535839|C18.452.584.718/C535839 C06.405.469.275.395|C06.405.469.531.311|C06.689|C17.800.463|C18.452.584.718 Pancreatic lipomatosis and duodenal atresia Digestive system disease|Metabolic disease|Skin disease Pancreatic Lymphoma, Familial MESH:C566516 MESH:D008223|MESH:D010190 C04.557.386/C566516|C04.588.274.761/C566516|C04.588.322.475/C566516|C06.301.761/C566516|C06.689.667/C566516|C15.604.515.569/C566516|C19.344.421/C566516|C20.683.515.761/C566516 C04.557.386|C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C15.604.515.569|C19.344.421|C20.683.515.761 Cancer|Digestive system disease|Endocrine system disease|Immune system disease|Lymphatic disease Pancreatic Neoplasms MESH:D010190 DO:DOID:1793|OMIM:260350|OMIM:606856|OMIM:613347|OMIM:613348|OMIM:614320 Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA). MESH:D004067|MESH:D004701|MESH:D010182 C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 C04.588.274|C04.588.322|C06.301|C06.689|C19.344 Cancer of Pancreas|Cancer of the Pancreas|Cancer, Pancreas|Cancer, Pancreatic|Cancers, Pancreas|Cancers, Pancreatic|Neoplasm, Pancreas|Neoplasm, Pancreatic|Neoplasms, Pancreas|Neoplasms, Pancreatic|Pancreas Cancer|Pancreas Cancers|Pancreas Neoplasm|Pancreas Neoplasms|PANCREATIC ACINAR CARCINOMA|Pancreatic Cancer|Pancreatic Cancers|PANCREATIC CANCER, SUSCEPTIBILITY TO, 1|PANCREATIC CANCER, SUSCEPTIBILITY TO, 2|PANCREATIC CANCER, SUSCEPTIBILITY TO, 3|PANCREATIC CANCER, SUSCEPTIBILITY TO, 4|PANCREATIC CARCINOMA|Pancreatic Neoplasm|PNCA1|PNCA2|PNCA3|PNCA4 Cancer|Digestive system disease|Endocrine system disease Pancreaticobiliary Maljunction MESH:D000080222 A group of anatomical variations in which the COMMON BILE DUCT and MAIN PANCREATIC DUCT are joined outside the duodenal wall often with abnormally long common channel rather than at the SPHINCTER OF ODDI. MESH:D003137|MESH:D004065 C06.130.120.250.640|C06.198.964|C16.131.314.778 C06.130.120.250|C06.198|C16.131.314 Anomalous Pancreaticobiliary Ductal Union|Anomalous Pancreaticobiliary Junction|Anomalous Pancreaticobiliary Junctions|Junction, Anomalous Pancreaticobiliary|Maljunction, Pancreaticobiliary|Pancreaticobiliary Junction, Anomalous|Pancreaticobiliary Maljunctions Congenital abnormality|Digestive system disease Pancreatic Pseudocyst MESH:D010192 Cyst-like space not lined by EPITHELIUM and contained within the PANCREAS. Pancreatic pseudocysts account for most of the cystic collections in the pancreas and are often associated with chronic PANCREATITIS. MESH:D010181 C04.182.640.692|C06.689.500.692 C04.182.640|C06.689.500 Pancreatic Pseudocysts|Pseudocyst, Pancreatic|Pseudocysts, Pancreatic Cancer|Digestive system disease Pancreatitis MESH:D010195 DO:DOID:2913|DO:DOID:4989 INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. MESH:D010182 C06.689.750 C06.689 Acute Edematous Pancreatitides|Acute Edematous Pancreatitis|Acute Pancreatitides|Acute Pancreatitis|Edema, Pancreatic Parenchymal|Edematous Pancreatitides, Acute|Edematous Pancreatitis, Acute|Fat Necrosis, Peripancreatic|Necrosis, Peripancreatic Fat|Pancreatic Parenchymal Edema|Pancreatic Parenchymal Edemas|Pancreatic Parenchyma with Edema|Pancreatitides, Acute|Pancreatitides, Acute Edematous|Pancreatitis, Acute|Pancreatitis, Acute Edematous|Parenchymal Edema, Pancreatic|Peripancreatic Fat Necroses|Peripancreatic Fat Necrosis Digestive system disease Pancreatitis, Acute Hemorrhagic MESH:D000081032 DO:DOID:0080999 An acute INFLAMMATION of the PANCREAS in which the initial edematous pancreatitis evolved into necrosis accompanied by HEMORRHAGE. MESH:D010195 C06.689.750.325 C06.689.750 Acute Hemorrhagic Pancreatitides|Acute Hemorrhagic Pancreatitis|Hemorrhagic Pancreatitides|Hemorrhagic Pancreatitides, Acute|Hemorrhagic Pancreatitis|Hemorrhagic Pancreatitis, Acute|Pancreatitides, Acute Hemorrhagic|Pancreatitides, Hemorrhagic|Pancreatitis, Hemorrhagic Digestive system disease Pancreatitis, Acute Necrotizing MESH:D019283 DO:DOID:0080998 A severe form of acute INFLAMMATION of the PANCREAS characterized by one or more areas of NECROSIS in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. Massive pancreatic necrosis may lead to DIABETES MELLITUS, and malabsorption. MESH:D010195 C06.689.750.650 C06.689.750 Acute Necrotizing Pancreatitis|Hemorrhagic Necrotic Pancreatitides|Hemorrhagic Necrotic Pancreatitis|Necrosis, Pancreatic|Necrotic Pancreatitis, Hemorrhagic|Necrotizing Pancreatitis, Acute|Pancreatic Necroses|Pancreatic Necrosis|Pancreatitis, Hemorrhagic Necrotic|Pancreatitis Necrotising|Pancreatitis Necrotisings|Pancreatitis Necrotizing|Pancreatitis Necrotizings Digestive system disease Pancreatitis, Alcoholic MESH:D019512 DO:DOID:4988 Acute or chronic INFLAMMATION of the PANCREAS due to excessive ALCOHOL DRINKING. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics. MESH:D010195|MESH:D020751 C06.689.750.660|C25.775.100.087.730 C06.689.750|C25.775.100.087 Alcoholic Pancreatitis Digestive system disease|Substance-related disorder Pancreatitis, Calcific MESH:C566837 MESH:D050500 C06.689.750.830/C566837|C23.550.291.500.750/C566837 C06.689.750.830|C23.550.291.500.750 Digestive system disease|Pathology (process) Pancreatitis, Chronic MESH:D050500 INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse. MESH:D002908|MESH:D010195 C06.689.750.830|C23.550.291.500.750 C06.689.750|C23.550.291.500 Chronic Pancreatitis Digestive system disease|Pathology (process) Pancreatitis, Graft MESH:D055589 An inflammatory disease and serious complication of PANCREAS TRANSPLANTATION. It is caused by a premature activation of pancreatic proenzymes leading to autodigestion of the gland and can be attributed to immunological or nonimmunological causes. MESH:D010195 C06.689.750.860 C06.689.750 Graft Pancreatitis Digestive system disease Pancreatitis, Sclerosing Cholangitis, and Sicca Complex MESH:C564906 MESH:D012859|MESH:D015209|MESH:D050500 C05.550.114.154.774/C564906|C05.799.114.774/C564906|C06.130.120.200.110/C564906|C06.689.750.830/C564906|C07.465.815.929.669/C564906|C11.496.260.719/C564906|C17.300.775.099.774/C564906|C20.111.199.774/C564906|C23.550.291.500.750/C564906 C05.550.114.154.774|C05.799.114.774|C06.130.120.200.110|C06.689.750.830|C07.465.815.929.669|C11.496.260.719|C17.300.775.099.774|C20.111.199.774|C23.550.291.500.750 Connective tissue disease|Digestive system disease|Eye disease|Immune system disease|Mouth disease|Musculoskeletal disease|Pathology (process) Pancreatoblastoma MESH:C537162 DO:DOID:6823 MESH:D010190 C04.588.274.761/C537162|C04.588.322.475/C537162|C06.301.761/C537162|C06.689.667/C537162|C19.344.421/C537162 C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Cancer|Digestive system disease|Endocrine system disease Pancytopenia MESH:D010198 DO:DOID:12450 Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets. MESH:D006402 C15.378.700 C15.378 Pancytopenias Blood disease Pancytopenia and Occlusive Vascular Disease MESH:C566836 MESH:D010198|MESH:D014652 C14.907/C566836|C15.378.700/C566836 C14.907|C15.378.700 Blood disease|Cardiovascular disease Panhypopituitarism X-linked MESH:C538613 OMIM:312000 MESH:D007018|MESH:D040181 C10.228.140.617.738.300/C538613|C16.320.322/C538613|C19.700.482/C538613 C10.228.140.617.738.300|C16.320.322|C19.700.482 Panhypopituitarism, X-Linked|PHPX|PITUITARY DWARFISM IV, FORMERLY Endocrine system disease|Genetic disease (inborn)|Nervous system disease Panic Disorder MESH:D016584 DO:DOID:594|OMIM:167870|OMIM:607853|OMIM:609985 A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait. MESH:D001008 F03.080.700 F03.080 Attack, Panic|Attacks, Panic|Disorder, Panic|Disorders, Panic|PAND1|PAND2|PAND3|Panic Attack|Panic Attacks|PANIC DISORDER 1|PANIC DISORDER 2|PANIC DISORDER 3|Panic Disorders|PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED|PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 4q-RELATED|PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 9q-RELATED Mental disorder Panic Disorder with Bladder Conditions MESH:C566834 MESH:D001745|MESH:D016584 C12.050.351.968.829/C566834|C12.200.777.829/C566834|C12.950.829/C566834|F03.080.700/C566834 C12.050.351.968.829|C12.200.777.829|C12.950.829|F03.080.700 Mental disorder|Urogenital disease (female)|Urogenital disease (male) Panic Disorder with Joint Laxity MESH:C566835 MESH:D007593|MESH:D016584 C05.550.521/C566835|F03.080.700/C566835 C05.550.521|F03.080.700 Mental disorder|Musculoskeletal disease Panniculitis MESH:D015434 DO:DOID:1526 General term for inflammation of adipose tissue, usually of the skin, characterized by reddened subcutaneous nodules. MESH:D003240|MESH:D012871 C17.300.710|C17.800.566 C17.300|C17.800 Cold Panniculitides|Cold Panniculitis|Panniculitides|Panniculitides, Cold|Panniculitis, Cold|Panniculitis, Subacute Nodular Migratory Connective tissue disease|Skin disease Panniculitis, Lupus Erythematosus MESH:D015435 A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45. MESH:D008179|MESH:D015434 C17.300.475.479.400|C17.300.710.400|C17.800.480.479.400|C17.800.566.400 C17.300.475.479|C17.300.710|C17.800.480.479|C17.800.566 Lupus Erythematosus Panniculitides|Lupus Erythematosus Panniculitis|Lupus Erythematosus Profundus|Lupus Panniculitides|Lupus Panniculitis|Lupus Profundus|Panniculitides, Lupus|Panniculitides, Lupus Erythematosus|Panniculitis, Lupus Connective tissue disease|Skin disease Panniculitis, Nodular Nonsuppurative MESH:D010201 DO:DOID:1525 A form of panniculitis characterized by recurrent episodes of fever accompanied by the eruption of single or multiple erythematous subcutaneous nodules on the lower extremities. They normally resolve, but tend to leave depressions in the skin. The condition is most often seen in women, alone or in association with other disorders. MESH:D015434 C17.300.710.500|C17.800.566.500 C17.300.710|C17.800.566 Disease, Weber-Christian|Nodular Nonsuppurative Panniculitides|Nodular Nonsuppurative Panniculitis|Nonsuppurative Panniculitides, Nodular|Nonsuppurative Panniculitis, Nodular|Panniculitides, Nodular Nonsuppurative|Weber Christian Disease|Weber-Christian Disease Connective tissue disease|Skin disease Panniculitis, Peritoneal MESH:D015436 INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS. MESH:D010532|MESH:D015434 C06.844.600|C17.300.710.600 C06.844|C17.300.710 Lipodystrophy, Mesenteric|Liposclerotic Mesenteritis|Mesenteric Lipodystrophy|Mesenteric Panniculitis|Mesenteric Weber Christian Disease|Mesenteric Weber-Christian Disease|Mesenteritis, Liposclerotic|Mesenteritis, Retractile|Mesenteritis, Sclerosing|Omental Panniculitis|Panniculitis, Mesenteric|Panniculitis, Omental|Peritoneal Panniculitis|Retractile Mesenteritis|Sclerosing Mesenteritis Connective tissue disease|Digestive system disease Panophthalmitis MESH:D010202 DO:DOID:13732 Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture. MESH:D015829 C01.150.252.289.900.675|C01.150.703.320.900.675|C01.375.354.900.675|C01.375.450.900.675|C11.294.354.900.675|C11.294.450.900.675|C11.941.879.960.580 C01.150.252.289.900|C01.150.703.320.900|C01.375.354.900|C01.375.450.900|C11.294.354.900|C11.294.450.900|C11.941.879.960 Panophthalmitides Bacterial infection or mycosis|Eye disease Panostotic fibrous dysplasia MESH:C537164 MESH:D001851|MESH:D005357|MESH:D055728 C05.116.099.708.375/C537164|C05.116.198/C537164|C15.378.190.636.765/C537164|C18.452.104/C537164 C05.116.099.708.375|C05.116.198|C15.378.190.636.765|C18.452.104 Blood disease|Metabolic disease|Musculoskeletal disease Pantothenate Kinase-Associated Neurodegeneration MESH:D006211 DO:DOID:3981|OMIM:234200 A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929) MESH:D001480|MESH:D009069|MESH:D019150|MESH:D020271 C10.228.140.079.800|C10.228.140.744.320|C10.228.662.575|C10.574.500.700|C16.320.400.650 C10.228.140.079|C10.228.140.744|C10.228.662|C10.574.500|C16.320.400 Degeneration, Pigmentary Pallidal|Dystrophies, Juvenile-Onset Neuroaxonal|Dystrophy, Juvenile-Onset Neuroaxonal|Hallervorden Spatz Disease|Hallervorden-Spatz Disease|Hallervorden Spatz Syndrome|Hallervorden-Spatz Syndrome|Juvenile-Onset Neuroaxonal Dystrophies|Juvenile-Onset Neuroaxonal Dystrophy|NBIA1|Neuroaxonal Dystrophies, Juvenile-Onset|Neuroaxonal Dystrophy, Juvenile Onset|Neuroaxonal Dystrophy, Juvenile-Onset|Neurodegeneration, Pantothenate Kinase-Associated|Neurodegeneration With Brain Iron Accumulation 1|Neurodegeneration with Brain Iron Accumulation Type 1|Pallidal Atrophy, Pigmentary|Pantothenate Kinase Associated Neurodegeneration|PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION|Pigmentary Pallidal Atrophy|Pigmentary Pallidal Degeneration|PKAN|PKAN Neuroaxonal Dystrophy, Juvenile Onset|PKAN Neuroaxonal Dystrophy, Juvenile-Onset Genetic disease (inborn)|Nervous system disease Panuveitis MESH:D015864 DO:DOID:12030 Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved. MESH:D014605 C11.941.879.780 C11.941.879 Eye disease Papillary renal cell carcinoma, sporadic MESH:C538614 DO:DOID:4465 MESH:D002292 C04.557.470.200.025.390/C538614|C04.588.945.947.535.160/C538614|C12.050.351.937.820.535.160/C538614|C12.050.351.968.419.473.160/C538614|C12.200.758.820.750.160/C538614|C12.200.777.419.473.160/C538614|C12.900.820.535.160/C538614|C12.950.419.473.160/C538614|C12.950.983.535.160/C538614 C04.557.470.200.025.390|C04.588.945.947.535.160|C12.050.351.937.820.535.160|C12.050.351.968.419.473.160|C12.200.758.820.750.160|C12.200.777.419.473.160|C12.900.820.535.160|C12.950.419.473.160|C12.950.983.535.160 Papillary renal carcinoma, malignant|Papillary renal cell carcinoma, bilateral|Papillary renal cell carcinoma, familial|Papillary renal cell carcinoma, multiple Cancer|Urogenital disease (female)|Urogenital disease (male) Papillary Thyroid Microcarcinoma MESH:C563277 MESH:D002291|MESH:D013964 C04.557.470.200.360/C563277|C04.557.470.700.360/C563277|C04.588.322.894/C563277|C04.588.443.915/C563277|C19.344.894/C563277|C19.874.788/C563277 C04.557.470.200.360|C04.557.470.700.360|C04.588.322.894|C04.588.443.915|C19.344.894|C19.874.788 Cancer|Endocrine system disease Papilledema MESH:D010211 DO:DOID:10175|DO:DOID:146|DO:DOID:6929 Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175) MESH:D009901 C10.292.700.900|C11.640.710 C10.292.700|C11.640 Choked Disk|Choked Disks|Decreased Intraocular Pressure Associated Papilledema|Decreased Intraocular Pressure-Associated Papilledema|Disk, Choked|Edema of the Optic Disc|Edema of the Optic Disk|Edema, Optic Disc|Edema, Optic Disk|Edema, Optic Papilla|Edema, Retinal|Edemas, Optic Disc|Edemas, Optic Disk|Edemas, Retinal|Increased Intracranial Pressure Associated Papilledema|Increased Intracranial Pressure-Associated Papilledema|Optic Disc Edema|Optic Disk Edema|Optic Nerve Papillitis|Optic Papilla Edema|Optic Papillitis|Papilledema Associated with Decreased Intraocular Pressure|Papilledema Associated with Increased Intracranial Pressure|Papillitis|Papillitis, Optic|Papillitis, Optic Nerve|Retinal Edema|Retinal Edemas Eye disease|Nervous system disease Papilloma MESH:D010212 DO:DOID:139|DO:DOID:2615 A circumscribed benign epithelial tumor projecting from the surrounding surface; more precisely, a benign epithelial neoplasm consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic cells. (Stedman, 25th ed) MESH:D018307 C04.557.470.700.600 C04.557.470.700 Papillomas|Papilloma, Squamous Cell|Papillomas, Squamous Cell|Papillomatoses|Papillomatosis|Squamous Cell Papilloma|Squamous Cell Papillomas Cancer Papilloma, Choroid Plexus MESH:D020288 DO:DOID:2626|OMIM:260500 A usually benign neoplasm that arises from the cuboidal epithelium of the choroid plexus and takes the form of an enlarged CHOROID PLEXUS, which may be associated with oversecretion of CSF. The tumor usually presents in the first decade of life with signs of increased intracranial pressure including HEADACHES; ATAXIA; DIPLOPIA; and alterations of mental status. In children it is most common in the lateral ventricles and in adults it tends to arise in the fourth ventricle. Malignant transformation to choroid plexus carcinomas may rarely occur. (Adams et al., Principles of Neurology, 6th ed, p667; DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072) MESH:D016545 C04.588.614.250.195.205.200.500|C10.228.140.211.280.300.500|C10.551.240.250.200.200.500 C04.588.614.250.195.205.200|C10.228.140.211.280.300|C10.551.240.250.200.200 Choroid Plexus Papilloma|CHOROID PLEXUS PAPILLOMA CHOROID PLEXUS CARCINOMA, INCLUDED|Choroid Plexus Papillomas|CPC, INCLUDED|CPP|Papilloma of Choroid Plexus|Papillomas, Choroid Plexus Cancer|Nervous system disease Papilloma, Intraductal MESH:D018300 DO:DOID:1627 A small, often impalpable benign papilloma arising in a lactiferous duct and frequently causing bleeding from the nipple. (Stedman, 25th ed) MESH:D018299 C04.557.470.615.670 C04.557.470.615 Intraductal Papilloma|Intraductal Papillomas|Papillomas, Intraductal Cancer Papilloma, Inverted MESH:D018308 DO:DOID:3179 A mucosal tumor of the urinary bladder or nasal cavity in which proliferating epithelium is invaginated beneath the surface and is more smoothly rounded than in other papillomas. (Stedman, 25th ed) MESH:D010212 C04.557.470.700.600.610 C04.557.470.700.600 Inverted Papilloma|Inverted Papillomas|Papillomas, Inverted Cancer Papillomatosis, Familial Cutaneous MESH:C566832 MESH:D010212|MESH:D012878 C04.557.470.700.600/C566832|C04.588.805/C566832|C17.800.882/C566832 C04.557.470.700.600|C04.588.805|C17.800.882 Cancer|Skin disease Papillomavirus Infections MESH:D030361 DO:DOID:11166 Neoplasms of the skin and mucous membranes caused by papillomaviruses. They are usually benign but some have a high risk for malignant progression. MESH:D004266|MESH:D014412|MESH:D015229 C01.221.812.640.700|C01.778.640.700|C01.925.256.650|C01.925.813.700|C01.925.928.725|C12.100.937.640.700|C23.550.291.531.937.640.500 C01.221.812.640|C01.778.640|C01.925.256|C01.925.813|C01.925.928|C12.100.937.640|C23.550.291.531.937.640 HPV Infection|HPV Infections|Human Papillomavirus Infection|Human Papillomavirus Infections|Papillomavirus Infection|Papillomavirus Infection, Human|Papillomavirus Infections, Human Pathology (process)|Viral disease Papillon-Lefevre Disease MESH:D010214 DO:DOID:3389|OMIM:245000 Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease. MESH:D007645 C16.320.850.475.600|C17.800.428.435.600|C17.800.827.475.600 C16.320.850.475|C17.800.428.435|C17.800.827.475 Haim Monk Syndrome|Haim-Monk Syndrome|Keratosis Palmoplantaris with Periodontopathia|Keratosis Palmoplantar Periodontopathies|Keratosis Palmoplantar Periodontopathy|Palmoplantar Periodontopathies, Keratosis|PALS|Papillon Lefevre Disease|Papillon Lefevre Syndrome|Papillon-Lefevre Syndrome|PLS Genetic disease (inborn)|Skin disease Papillorenal syndrome MESH:C537168 OMIM:120330 MESH:D003103|MESH:D014718|MESH:D051437 C11.250.110/C537168|C11.270.147/C537168|C12.050.351.968.419.780/C537168|C12.050.351.968.829.920/C537168|C12.200.777.419.780/C537168|C12.200.777.829.920/C537168|C12.950.419.780/C537168|C12.950.829.920/C537168|C16.131.384.282/C537168 C11.250.110|C11.270.147|C12.050.351.968.419.780|C12.050.351.968.829.920|C12.200.777.419.780|C12.200.777.829.920|C12.950.419.780|C12.950.829.920|C16.131.384.282 CAKUT WITH OR WITHOUT OCULAR ABNORMALITIES|Coloboma of optic nerve with renal disease|Coloboma-Ureteral-Renal Syndrome|CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES|Optic coloboma, vesicoureteral reflux, and renal anomalies|Optic Nerve Coloboma Renal Syndrome|Optic nerve coloboma with renal disease|PAPRS|Renal-coloboma syndrome|Renal Coloboma Syndrome|Renal-Coloboma Syndrome With Macular Abnormalities|Renal Hypoplasia, Isolated Congenital abnormality|Eye disease|Urogenital disease (female)|Urogenital disease (male) Papular urticaria MESH:C537169 MESH:D012872|MESH:D014581 C17.800.862.945/C537169|C17.800.865/C537169|C20.543.480.904/C537169 C17.800.862.945|C17.800.865|C20.543.480.904 Bullous papular urticaria - type Immune system disease|Skin disease Paracoccidioidomycosis MESH:D010229 DO:DOID:12662 A mycosis affecting the skin, mucous membranes, lymph nodes, and internal organs. It is caused most often by Paracoccidioides brasiliensis. It is also called paracoccidioidal granuloma. MESH:D009181 C01.150.703.700 C01.150.703 Blastomyces brasiliensis Infection|Blastomyces brasiliensis Infections|Blastomycosis, South American|Granuloma, Paracoccidioidal|Infection, Blastomyces brasiliensis|Infection, Paracoccidioides|Infection, Paracoccidioides brasiliensis|Infections, Paracoccidioides brasiliensis|Paracoccidioidal Granuloma|Paracoccidioidal Granulomas|Paracoccidioides brasiliensis Infection|Paracoccidioides brasiliensis Infections|Paracoccidioides Infection|Paracoccidioides Infections|Paracoccidioidomycose|Paracoccidioidomycoses|South American Blastomycosis Bacterial infection or mycosis Paraduodenal Hernia MESH:D000082123 A protrusion of the SMALL INTESTINE through an opening in the MESENTERY. MESH:D000082122 C23.300.707.960.750 C23.300.707.960 Hernia, Left Paraduodenal|Hernia, Obstructed Paraduodenal|Hernia, Paraduodenal|Hernia, Right Paraduodenal|Left Paraduodenal Hernia|Left Paraduodenal Hernias|Obstructed Paraduodenal Hernia|Obstructed Paraduodenal Hernias|Paraduodenal Hernia, Left|Paraduodenal Hernia, Obstructed|Paraduodenal Hernia, Right|Paraduodenal Hernias|Paraduodenal Hernias, Left|Right Paraduodenal Hernia|Right Paraduodenal Hernias Pathology (anatomical condition) Paraganglioma MESH:D010235 DO:DOID:0050773|OMIM:168000 A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992) MESH:D018358 C04.557.465.625.650.700|C04.557.580.625.650.700 C04.557.465.625.650|C04.557.580.625.650 CAROTID BODY TUMORS|CBT1|CHEMODECTOMAS|Gangliocytic Paraganglioma|Gangliocytic Paragangliomas|GLOMUS JUGULARE TUMORS|GLOMUS TUMORS, FAMILIAL, 1|PARAGANGLIOMA, CAROTID BODY|Paraganglioma, Gangliocytic|Paragangliomas|PARAGANGLIOMAS 1|PARAGANGLIOMAS, FAMILIAL, 1|PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1|Paragangliomata|Paragangliomatas|PGL|PGL1|PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 1|PPGL1 Cancer Paraganglioma, Extra-Adrenal MESH:D010236 A relatively rare, usually benign neoplasm originating in the chemoreceptor tissue of the CAROTID BODY; GLOMUS JUGULARE; GLOMUS TYMPANICUM; AORTIC BODIES; and the female genital tract. It consists histologically of rounded or ovoid hyperchromatic cells that tend to be grouped in an alveolus-like pattern within a scant to moderate amount of fibrous stroma and a few large thin-walled vascular channels. (From Stedman, 27th ed) MESH:D010235 C04.557.465.625.650.700.705|C04.557.580.625.650.700.705 C04.557.465.625.650.700|C04.557.580.625.650.700 Chemodectoma|Chemodectomas|Extra-Adrenal Paraganglioma|Extra-Adrenal Paragangliomas|Nonchromaffin Paraganglioma|Non-Chromaffin Paraganglioma|Nonchromaffin Paragangliomas|Non-Chromaffin Paragangliomas|Paraganglioma, Extra Adrenal|Paraganglioma, Nonchromaffin|Paraganglioma, Non Chromaffin|Paraganglioma, Non-Chromaffin|Paragangliomas, Extra-Adrenal|Paragangliomas, Familial Nonchromaffin, 1|Paragangliomas, Nonchromaffin|Paragangliomas, Non-Chromaffin Cancer Paragangliomas 2 MESH:C566646 OMIM:601650 MESH:D009386|MESH:D010235 C04.557.465.625.650.700/C566646|C04.557.580.625.650.700/C566646|C04.700/C566646|C16.320.700/C566646 C04.557.465.625.650.700|C04.557.580.625.650.700|C04.700|C16.320.700 Glomus Tumors, Familial, 2|PARAGANGLIOMAS 2|PGL2|PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 2|PPGL2 Cancer|Genetic disease (inborn) Paragangliomas 3 MESH:C565335 OMIM:605373 MESH:D009386|MESH:D010235 C04.557.465.625.650.700/C565335|C04.557.580.625.650.700/C565335|C04.700/C565335|C16.320.700/C565335 C04.557.465.625.650.700|C04.557.580.625.650.700|C04.700|C16.320.700 Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas|Glomus Tumors, Familial, 3|Paraganglioma, Familial Malignant|PARAGANGLIOMAS 3|Paragangliomas 4|Paragangliomas, Hereditary Extraadrenal|PGL3|Pheochromocytoma, Extraadrenal, and Cervical Paraganglioma|Pheochromocytoma, Familial Extraadrenal|PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3|PPGL3 Cancer|Genetic disease (inborn) Paragangliomas with Sensorineural Hearing Loss MESH:C566831 MESH:D006319|MESH:D010235 C04.557.465.625.650.700/C566831|C04.557.580.625.650.700/C566831|C09.218.458.341.887/C566831|C10.597.751.418.341.887/C566831|C23.888.592.763.393.341.887/C566831 C04.557.465.625.650.700|C04.557.580.625.650.700|C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Cancer|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Paragonimiasis MESH:D010237 DO:DOID:10699 Infection with TREMATODA of the genus PARAGONIMUS. MESH:D014201 C01.610.335.865.741 C01.610.335.865 Infection, Paragonimus|Infection, Paragonimus westermani|Infections, Paragonimus|Infections, Paragonimus westermani|Paragonimiases|Paragonimus Infection|Paragonimus Infections|Paragonimus westermani Infection|Paragonimus westermani Infections Parasitic disease Parakeratosis MESH:D010241 Persistence of the nuclei of the keratinocytes into the stratum corneum of the skin. This is a normal state only in the epithelium of true mucous membranes in the mouth and vagina. (Dorland, 27th ed) MESH:D007642 C17.800.428.736 C17.800.428 Parakeratoses Skin disease Paralyses, Familial Periodic MESH:D010245 DO:DOID:1029 A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481) MESH:D008664|MESH:D009135 C05.651.701|C10.668.491.650|C16.320.565.618.711|C18.452.648.618.711 C05.651|C10.668.491|C16.320.565.618|C18.452.648.618 Familial Periodic Paralyses|Familial Periodic Paralysis|Normokalemic Periodic Paralyses|Normokalemic Periodic Paralysis|Paralyses, Normokalemic Periodic|Paralysis, Familial Periodic|Paralysis, Normokalemic Periodic|Periodic Paralyses, Familial|Periodic Paralyses, Normokalemic|Periodic Paralysis, Familial|Periodic Paralysis, Normokalemic Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Paralysis MESH:D010243 A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) MESH:D009461 C10.597.622|C23.888.592.636 C10.597|C23.888.592 Palsies|Palsy|Paralyses|Paralysis, Todd|Paralysis, Todd's|Plegia|Plegias|Todd Paralysis|Todd's Paralysis|Todds Paralysis Nervous system disease|Signs and symptoms Paralysis Agitans, Juvenile, Of Hunt MESH:C562469 MESH:D010300 C10.228.140.079.862.500/C562469|C10.228.662.600.400/C562469|C10.574.928.750/C562469 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 Parkinson Disease, Juvenile, Of Hunt Nervous system disease Paralysis, Hyperkalemic Periodic MESH:D020513 DO:DOID:14451|OMIM:170500 An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481) MESH:D010245 C05.651.701.600|C10.668.491.650.600|C16.320.565.618.711.600|C18.452.648.618.711.600 C05.651.701|C10.668.491.650|C16.320.565.618.711|C18.452.648.618.711 Adynamia Episodica Hereditaria|Adynamia Episodica Hereditaria with or without Myotonia|Disease, Gamstorp|Familial Hyperkalemic Periodic Paralysis|Gamstorp Disease|GAMSTORP DISEASE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE, INCLUDED|Gamstorp Episodic Adynamy|Hyperkalemic Periodic Paralysis|Hyperkalemic Periodic Paralysis, Familial|Hyperkalemic Periodic Paralysis Type 2|Hyperkaliemic Periodic Paralysis Type 2|HyperKPP|HyperPP|HYPP|Myotonic Periodic Paralysis|Paralysis, Periodic, Hyperkalemic, Familial|Primary Hyperkalemic Periodic Paralysis|Sodium Channel Muscle Disease Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Paralysis, Obstetric MESH:D010246 Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed) MESH:D001720 C16.614.131.587|C26.141.587 C16.614.131|C26.141 Obstetrical Paralyses|Obstetrical Paralysis|Obstetric Paralyses|Obstetric Paralysis|Paralyses, Obstetric|Paralyses, Obstetrical|Paralysis, Obstetrical Infant-newborn disease|Wounds and injuries paralytic ectropion MESH:C000721269 MESH:D004483|MESH:D005155 C07.465.299/C000721269|C10.292.319/C000721269|C11.338.362/C000721269 C07.465.299|C10.292.319|C11.338.362 Eye disease|Mouth disease|Nervous system disease Parametritis MESH:D010249 DO:DOID:1260 Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT. MESH:D000292 C12.050.351.500.056.750.750|C12.100.250.056.750.750 C12.050.351.500.056.750|C12.100.250.056.750 Cellulitides, Pelvic|Cellulitis, Pelvic|Parametritides|Pelvic Cellulitides|Pelvic Cellulitis Urogenital disease (female) Paramyxoviridae Infections MESH:D018184 Infections with viruses of the family PARAMYXOVIRIDAE. This includes MORBILLIVIRUS INFECTIONS; RESPIROVIRUS INFECTIONS; PNEUMOVIRUS INFECTIONS; HENIPAVIRUS INFECTIONS; AVULAVIRUS INFECTIONS; and RUBULAVIRUS INFECTIONS. MESH:D018701 C01.925.782.580.600 C01.925.782.580 Infection, Parainfluenza Virus|Infection, Paramyxoviridae|Infections, Parainfluenza Virus|Infections, Paramyxoviridae|Parainfluenza|Parainfluenza Virus Infection|Parainfluenza Virus Infections|Paramyxoviridae Infection|Virus Infection, Parainfluenza|Virus Infections, Parainfluenza Viral disease Parana Hard Skin Syndrome MESH:C564905 MESH:D012873 C16.320.850/C564905|C17.800.827/C564905 C16.320.850|C17.800.827 Genetic disease (inborn)|Skin disease Paranasal Sinus Diseases MESH:D010254 DO:DOID:1352 Diseases affecting or involving the PARANASAL SINUSES and generally manifesting as inflammation, abscesses, cysts, or tumors. MESH:D009668 C08.460.692|C09.603.692 C08.460|C09.603 Disease, Paranasal Sinus|Diseases, Paranasal Sinus|Paranasal Sinus Disease|Sinus Disease, Paranasal|Sinus Diseases, Paranasal Ear-nose-throat disease|Respiratory tract disease Paranasal Sinus Neoplasms MESH:D010255 DO:DOID:0050619|DO:DOID:1350 Tumors or cancer of the PARANASAL SINUSES. MESH:D009669|MESH:D010254 C04.588.443.665.650.693|C08.460.669.693|C08.460.692.503|C08.785.600.693|C09.603.669.693|C09.603.692.503|C09.647.685.693 C04.588.443.665.650|C08.460.669|C08.460.692|C08.785.600|C09.603.669|C09.603.692|C09.647.685 Cancer of Paranasal Sinus|Cancer, Paranasal Sinus|Cancers, Paranasal Sinus|Neoplasm, Paranasal Sinus|Neoplasms, Paranasal Sinus|Paranasal Sinus Cancer|Paranasal Sinus Cancers|Paranasal Sinus Neoplasm Cancer|Ear-nose-throat disease|Respiratory tract disease Paraneoplastic Cerebellar Degeneration MESH:D020362 Cerebellar degeneration associated with a remote neoplasm. Clinical manifestations include progressive limb and GAIT ATAXIA; DYSARTHRIA; and NYSTAGMUS, PATHOLOGIC. The histologic type of the associated neoplasm is usually carcinoma or lymphoma. Pathologically the cerebellar cortex and subcortical nuclei demonstrate diffuse degenerative changes. Anti-Purkinje cell antibodies (anti-Yo) are found in the serum of approximately 50% of affected individuals. (Adams et al., Principles of Neurology, 6th ed, p686) MESH:D002526|MESH:D020361 C04.588.614.550.650|C04.730.856.650|C10.228.140.252.620|C10.574.781.700 C04.588.614.550|C04.730.856|C10.228.140.252|C10.574.781 Anti Yo Associated Paraneoplastic Cerebellar Degeneration|Anti-Yo-Associated Paraneoplastic Cerebellar Degeneration|Cerebellar Degeneration, Paraneoplastic|Cerebellar Syndrome, Paraneoplastic|Cerebellar Syndromes, Paraneoplastic|Degeneration, Paraneoplastic Cerebellar|Paraneoplastic Cerebellar Degeneration, Anti Yo Associated|Paraneoplastic Cerebellar Degeneration, Anti-Yo-Associated|Paraneoplastic Cerebellar Syndrome|Paraneoplastic Cerebellar Syndromes Cancer|Nervous system disease Paraneoplastic Endocrine Syndromes MESH:D009384 Syndromes resulting from inappropriate production of HORMONES or hormone-like materials by NEOPLASMS in non-endocrine tissues or not by the usual ENDOCRINE GLANDS. Such hormone outputs are called ectopic hormone (HORMONES, ECTOPIC) secretion. MESH:D004701|MESH:D010257 C04.588.322.490|C04.730.713|C19.344.473 C04.588.322|C04.730|C19.344 Ectopic Hormone Syndrome|Ectopic Hormone Syndromes|Endocrine Syndrome, Paraneoplastic|Paraneoplastic Endocrine Syndrome|Syndrome, Ectopic Hormone|Syndrome, Paraneoplastic Endocrine|Syndromes, Ectopic Hormone|Syndromes, Paraneoplastic Endocrine Cancer|Endocrine system disease Paraneoplastic Polyneuropathy MESH:D020364 DO:DOID:8681 A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334) MESH:D011115|MESH:D020361 C04.588.614.550.700|C04.730.856.700|C10.574.781.850|C10.668.829.800.662 C04.588.614.550|C04.730.856|C10.574.781|C10.668.829.800 Neuropathies, Paraneoplastic|Neuropathies, Paraneoplastic Peripheral|Neuropathy, Paraneoplastic|Neuropathy, Paraneoplastic Peripheral|Paraneoplastic Neuropathies|Paraneoplastic Neuropathy|Paraneoplastic Peripheral Neuropathies|Paraneoplastic Peripheral Neuropathy|Paraneoplastic Polyneuropathies|Peripheral Neuropathies, Paraneoplastic|Peripheral Neuropathy, Paraneoplastic|Polyneuropathies, Paraneoplastic|Polyneuropathy, Paraneoplastic Cancer|Nervous system disease Paraneoplastic Syndromes MESH:D010257 In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products. MESH:D009369 C04.730 C04 Paraneoplastic Syndrome|Syndrome, Paraneoplastic|Syndromes, Paraneoplastic Cancer Paraneoplastic Syndromes, Nervous System MESH:D020361 Degenerative or inflammatory conditions affecting the central or peripheral nervous system that develop in association with a systemic neoplasm without direct invasion by tumor. They may be associated with circulating antibodies that react with the affected neural tissue. (Intern Med 1996 Dec;35(12):925-9) MESH:D009423|MESH:D010257|MESH:D019636 C04.588.614.550|C04.730.856|C10.574.781 C04.588.614|C04.730|C10.574 Autonomic Dysfunction, Paraneoplastic|Autonomic Dysfunctions, Paraneoplastic|Encephalomyelitis, Paraneoplastic|Nervous System Paraneoplastic Syndromes|Neurologic Syndrome, Paraneoplastic|Neurologic Syndromes, Paraneoplastic|Paraneoplastic Autonomic Dysfunction|Paraneoplastic Autonomic Dysfunctions|Paraneoplastic Encephalomyelitides|Paraneoplastic Encephalomyelitis|Paraneoplastic Neurologic Syndrome|Paraneoplastic Neurologic Syndromes|Syndrome, Paraneoplastic Neurologic|Syndromes, Paraneoplastic Neurologic Cancer|Nervous system disease Paraneoplastic Syndromes, Ocular MESH:D059545 Ocular manifestations secondary to various NEOPLASMS in which antibodies to antigens of the primary tumor cross-react with ocular antigens. This autoimmune response often leads to visual loss and other ocular dysfunctions. MESH:D005134|MESH:D010257 C04.588.364.738|C04.730.900|C11.319.466 C04.588.364|C04.730|C11.319 Bilateral Diffuse Uveal Melanocytic Proliferation, Paraneoplastic|Cancer-Associated Retinopathies|Cancer Associated Retinopathy|Cancer-Associated Retinopathy|Disease, Ocular Paraneoplastic|Diseases, Ocular Paraneoplastic|Melanocytic Proliferation, Paraneoplastic|Melanocytic Proliferations, Paraneoplastic|Melanoma-Associated Retinopathies|Melanoma Associated Retinopathy|Melanoma-Associated Retinopathy|Ocular Paraneoplastic Disease|Ocular Paraneoplastic Diseases|Ocular Paraneoplastic Syndrome|Ocular Paraneoplastic Syndromes|Paraneoplastic Disease, Ocular|Paraneoplastic Diseases, Ocular|Paraneoplastic Melanocytic Proliferation|Paraneoplastic Melanocytic Proliferations|Paraneoplastic Syndrome, Ocular|Retinopathies, Cancer-Associated|Retinopathies, Melanoma-Associated|Retinopathy, Cancer-Associated|Retinopathy, Melanoma-Associated|Syndrome, Ocular Paraneoplastic|Syndromes, Ocular Paraneoplastic Cancer|Eye disease Paranoid Disorders MESH:D010259 Chronic mental disorders in which there has been an insidious development of a permanent and unshakeable delusional system (persecutory delusions or delusions of jealousy), accompanied by preservation of clear and orderly thinking. Emotional responses and behavior are consistent with the delusional state. MESH:D019967 F03.700.450 F03.700 Disorder, Paranoid|Disorders, Paranoid|Paranoia|Paranoias|Paranoid Disorder|Paranoid Psychoses|Psychoses, Paranoid Mental disorder Paranoid Personality Disorder MESH:D010260 DO:DOID:10938 A personality disorder characterized by the avoidance of accepting deserved blame and an unwarranted view of others as malevolent. The latter is expressed as suspiciousness, hypersensitivity, and mistrust. MESH:D010554 F03.675.600 F03.675 Disorder, Paranoid Personality|Disorders, Paranoid Personality|Paranoid Personalities|Paranoid Personality|Paranoid Personality Disorders|Personalities, Paranoid|Personality Disorder, Paranoid|Personality Disorders, Paranoid|Personality, Paranoid Mental disorder Paraomphalocele MESH:C537170 MESH:D020139 C05.660.417/C537170|C16.131.621.417/C537170|C23.300.707.374.500/C537170 C05.660.417|C16.131.621.417|C23.300.707.374.500 Paraomphalocele, Epigastric|Paraomphalocele, Hypogastric Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition) Paraparesis MESH:D020335 Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions. MESH:D010291 C10.597.636.500|C23.888.592.643.500 C10.597.636|C23.888.592.643 Cerebral Paraparesis|Chronic Progressive Paraparesis|Hypotonic Paraparesis|Parapareses|Paraparesis, Cerebral|Paraparesis, Chronic Progressive|Paraparesis, Hypotonic|Paraparesis, Spinal|Progressive Paraparesis, Chronic|Spinal Paraparesis Nervous system disease|Signs and symptoms Paraparesis, Spastic MESH:D020336 Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways. MESH:D020335 C10.597.636.500.500|C23.888.592.643.500.500 C10.597.636.500|C23.888.592.643.500 Lower Extremity Weakness, Spastic|Parapareses, Spastic|Spastic Lower Extremity Weakness|Spastic Parapareses|Spastic Paraparesis Nervous system disease|Signs and symptoms Paraparesis, Tropical Spastic MESH:D015493 DO:DOID:321|OMIM:159580 A subacute paralytic myeloneuropathy occurring endemically in tropical areas such as the Caribbean, Colombia, India, and Africa, as well as in the southwestern region of Japan; associated with infection by HUMAN T-CELL LEUKEMIA VIRUS I. Clinical manifestations include a slowly progressive spastic weakness of the legs, increased reflexes, Babinski signs, incontinence, and loss of vibratory and position sensation. On pathologic examination inflammatory, demyelination, and necrotic lesions may be found in the spinal cord. (Adams et al., Principles of Neurology, 6th ed, p1239) MESH:D009187|MESH:D015490 C01.207.618.500|C01.925.782.815.200.470.710|C10.228.228.618.500|C10.228.854.525.700|C10.586.750.700 C01.207.618|C01.925.782.815.200.470|C10.228.228.618|C10.228.854.525|C10.586.750 Familial Spastic Paraparesis, Htlv 1 Associated|Familial Spastic Paraparesis, Htlv-1-Associated|HAM|Htlv-1-Associated Myelopathies|Htlv-1-Associated Myelopathy|HTLV I Associated Myelopathies|HTLV-I-Associated Myelopathies|HTLV I Associated Myelopathy|HTLV-I-Associated Myelopathy|HTLV I Associated Myelopathy Tropical Spastic Paraparesis|HTLV-I-Associated Myelopathy-Tropical Spastic Paraparesis|Human T Lymphotropic Virus Type 1 Associated Myelopathy|Human T-Lymphotropic Virus Type 1 Associated Myelopathy|Myelopathies, Htlv-1-Associated|Myelopathies, HTLV I Associated|Myelopathies, HTLV-I-Associated|Myelopathy, Htlv 1 Associated|Myelopathy, Htlv-1-Associated|Myelopathy, HTLV-I-Associated|Myelopathy, Human T Lymphotropic Virus Type 1 Associated|Myelopathy, Human T-Lymphotropic Virus Type 1 Associated|Parapareses, Tropical Spastic|Paraplegias, Tropical Spastic|Paraplegia, Tropical Spastic|Spastic Parapareses, Tropical|Spastic Paraparesis, Tropical|Spastic Paraplegias, Tropical|Spastic Paraplegia, Tropical|Tropical Spastic Parapareses|Tropical Spastic Paraparesis|Tropical Spastic Paraplegia|Tropical Spastic Paraplegias Nervous system disease|Viral disease Paraphilic Disorders MESH:D010262 Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V) MESH:D001523 F03.657 F03 Deviation, Sex|Deviations, Sex|Disorder, Paraphilic|Disorders, Paraphilic|Paraphilia|Paraphilias|Paraphilic Disorder|Sex Deviation|Sex Deviations Mental disorder Paraphimosis MESH:D010263 DO:DOID:5334 A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis. MESH:D010688 C12.100.500.494.684.587|C12.200.294.494.684.587 C12.100.500.494.684|C12.200.294.494.684 Paraphimoses Urogenital disease (male) Paraplegia MESH:D010264 DO:DOID:607 Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness. MESH:D010243 C10.597.622.669|C23.888.592.636.637 C10.597.622|C23.888.592.636 Ataxic Paraplegia|Ataxic Paraplegias|Cerebral Paraplegia|Cerebral Paraplegias|Flaccid Paraplegia|Flaccid Paraplegias|Paralysis, Legs|Paralysis, Lower Extremities|Paralysis, Lower Limbs|Paraplegia, Ataxic|Paraplegia, Cerebral|Paraplegia, Flaccid|Paraplegias|Paraplegias, Ataxic|Paraplegias, Cerebral|Paraplegias, Flaccid|Paraplegia, Spastic|Paraplegia, Spinal|Paraplegias, Spastic|Paraplegias, Spinal|Spastic Paraplegia|Spastic Paraplegias|Spinal Paraplegia|Spinal Paraplegias Nervous system disease|Signs and symptoms Paraproteinemias MESH:D010265 DO:DOID:6536 A group of related diseases characterized by an unbalanced or disproportionate proliferation of immunoglobulin-producing cells, usually from a single clone. These cells frequently secrete a structurally homogeneous immunoglobulin (M-component) and/or an abnormal immunoglobulin. MESH:D001796|MESH:D007160 C15.378.147.780|C20.683.780 C15.378.147|C20.683 Cell Dyscrasia, Plasma|Dyscrasia, Plasma Cell|Gammapathy, Monoclonal|Gammopathy, Monoclonal|Monoclonal Gammapathies|Monoclonal Gammapathy|Monoclonal Gammopathies|Monoclonal Gammopathy|Paraimmunoglobulinemia|Paraimmunoglobulinemias|Paraproteinemia|Plasma Cell Dyscrasia|Plasma Cell Dyscrasias Blood disease|Immune system disease Parapsoriasis MESH:D010267 DO:DOID:9088 The term applied to a group of relatively uncommon inflammatory, maculopapular, scaly eruptions of unknown etiology and resistant to conventional treatment. Eruptions are both psoriatic and lichenoid in appearance, but the diseases are distinct from psoriasis, lichen planus, or other recognized dermatoses. Proposed nomenclature divides parapsoriasis into two distinct subgroups, PITYRIASIS LICHENOIDES and parapsoriasis en plaques (small- and large-plaque parapsoriasis). MESH:D017444 C17.800.859.575 C17.800.859 Dermatoses, Digitate|Dermatosis, Digitate|Digitate Dermatoses|Digitate Dermatosis|Erythroderma, Maculopapular|Erythrodermas, Maculopapular|Maculopapular Erythroderma|Maculopapular Erythrodermas|Parakeratosis Variegata|Parapsoriases|Parapsoriasis en Plaque|Parapsoriasis en Plaques Skin disease Paraquat lung MESH:C537171 MESH:D055371 C08.381.520.500/C537171 C08.381.520.500 Paraquat induced lung disease Respiratory tract disease Parasitemia MESH:D018512 The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed) MESH:D010272|MESH:D018805 C01.610.695|C23.550.470.790.500.580 C01.610|C23.550.470.790.500 Parasitemias Parasitic disease|Pathology (process) Parasitic Diseases MESH:D010272 Infections or infestations with PARASITES. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure. MESH:D007239 C01.610 C01 Disease, Parasitic|Diseases, Parasitic|Infection, Parasite|Infection, Parasitic|Infections, Parasite|Infections, Parasitic|Parasite Infection|Parasite Infections|Parasitic Disease|Parasitic Infection|Parasitic Infections Parasitic disease Parasitic Diseases, Animal MESH:D010273 Animal diseases caused by PARASITES. MESH:D000820|MESH:D010272 C01.610.701|C22.674 C01.610|C22 Animal Parasitic Disease|Animal Parasitic Diseases|Animal Parasitic Infection|Animal Parasitic Infections|Disease, Animal Parasitic|Diseases, Animal Parasitic|Infection, Animal Parasitic|Infections, Animal Parasitic|Parasitic Disease, Animal|Parasitic Infection, Animal|Parasitic Infections, Animal Animal disease|Parasitic disease Parasitic infection caused by Dracunculus medinensis MESH:C548841 MESH:D004320 C01.610.335.508.700.750.299/C548841 C01.610.335.508.700.750.299 Parasitic disease Parasomnias MESH:D020447 Movements or behaviors associated with sleep, sleep stages, or partial arousals from sleep that may impair sleep maintenance. Parasomnias are generally divided into four groups: arousal disorders, sleep-wake transition disorders, parasomnias of REM sleep, and nonspecific parasomnias. (From Thorpy, Sleep Disorders Medicine, 1994, p191) MESH:D012893 C10.886.659|F03.870.664 C10.886|F03.870 Benign Neonatal Sleep Myoclonus|Drunkennesses, Sleep|Drunkenness, Sleep|Myoclonus, Benign Neonatal Sleep|Neonatal Sleep Myoclonus, Benign|Parasomnia|Paroxysm, Sleep Sensory|Paroxysms, Sleep Sensory|Sensory Paroxysm, Sleep|Sensory Paroxysms, Sleep|Sleep Drunkenness|Sleep Drunkennesses|Sleep Related Abnormal Swallowing Syndrome|Sleep-Related Abnormal Swallowing Syndrome|Sleep Sensory Paroxysm|Sleep Sensory Paroxysms Mental disorder|Nervous system disease Parastremmatic dwarfism MESH:C537172 DO:DOID:0111539|OMIM:168400 MESH:D004392|MESH:D007738|MESH:D008607|MESH:D012600 C05.116.099.343/C537172|C05.116.900.800.500/C537172|C05.116.900.800.875/C537172|C10.597.606.360/C537172|C16.320.240/C537172|C19.297/C537172|C23.888.592.604.646/C537172|F03.625.539/C537172 C05.116.099.343|C05.116.900.800.500|C05.116.900.800.875|C10.597.606.360|C16.320.240|C19.297|C23.888.592.604.646|F03.625.539 Parastremmatic dysplasia Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Parasystole MESH:D017574 A cardiac arrhythmia that is caused by interaction of two independently initiated cardiac impulses of different rates from two separate foci. Generally one focus is the SINOATRIAL NODE, the normal pacemaker. The ectopic focus is usually in the HEART VENTRICLE but can be in the HEART ATRIUM or the ATRIOVENTRICULAR NODE. Modulation of the parasystolic rhythm by the sinus rhythm depends on the completeness of entrance block surrounding the parasystolic focus. MESH:D001145 C14.280.067.672|C23.550.073.670 C14.280.067|C23.550.073 Parasystoles Cardiovascular disease|Pathology (process) Parathyroid Adenomatosis, Familial Cystic MESH:C564165 MESH:D000236|MESH:D007573|MESH:D049950 C04.557.470.035/C564165|C04.588.149.721.450/C564165|C05.116.231.754.450/C564165|C05.500.499/C564165|C07.320.515/C564165|C19.642.355.239/C564165 C04.557.470.035|C04.588.149.721.450|C05.116.231.754.450|C05.500.499|C07.320.515|C19.642.355.239 Cancer|Endocrine system disease|Mouth disease|Musculoskeletal disease Parathyroid cancer, adult MESH:C537173 MESH:D010282 C04.588.322.525/C537173|C04.588.443.680/C537173|C19.344.525/C537173|C19.642.713/C537173 C04.588.322.525|C04.588.443.680|C19.344.525|C19.642.713 Parathyroid carcinoma, adult|Parathyroid neoplasm, adult Cancer|Endocrine system disease Parathyroid Diseases MESH:D010279 DO:DOID:11201 Pathological processes of the PARATHYROID GLANDS. They usually manifest as hypersecretion or hyposecretion of PARATHYROID HORMONE that regulates the balance of CALCIUM; PHOSPHORUS; and MAGNESIUM in the body. MESH:D004700 C19.642 C19 Disease, Parathyroid|Diseases, Parathyroid|Disorder, Parathyroid|Disorders, Parathyroid|Parathyroid Disease|Parathyroid Disorder|Parathyroid Disorders Endocrine system disease Parathyroid Glands, Agenesis Of MESH:C563238 MESH:D007011|MESH:D040181 C16.320.322/C563238|C19.642.482/C563238 C16.320.322|C19.642.482 Endocrine system disease|Genetic disease (inborn) Parathyroid Neoplasms MESH:D010282 DO:DOID:1540|DO:DOID:7608|OMIM:608266 Tumors or cancer of the PARATHYROID GLANDS. MESH:D004701|MESH:D006258|MESH:D010279 C04.588.322.525|C04.588.443.680|C19.344.525|C19.642.713 C04.588.322|C04.588.443|C19.344|C19.642 Adenoma, Parathyroid|Adenomas, Parathyroid|Cancer of Parathyroid|Cancer of the Parathyroid|Cancer, Parathyroid|Cancers, Parathyroid|Carcinoma, Parathyroid|Carcinomas, Parathyroid|Neoplasm, Parathyroid|Neoplasms, Parathyroid|Parathyroid Adenoma|Parathyroid Adenomas|Parathyroid Cancer|Parathyroid Cancers|Parathyroid Carcinoma|Parathyroid Carcinomas|Parathyroid Neoplasm|PRTC Cancer|Endocrine system disease Paratuberculosis MESH:D010283 A chronic GASTROENTERITIS in RUMINANTS caused by MYCOBACTERIUM AVIUM SUBSPECIES PARATUBERCULOSIS. MESH:D000820|MESH:D009165 C01.150.252.410.040.552.475.747|C22.688 C01.150.252.410.040.552.475|C22 Disease, Johne|Disease, Johne's|Johne Disease|Johne's Disease|Johnes Disease|Paratuberculoses Animal disease|Bacterial infection or mycosis Paratyphoid Fever MESH:D010284 DO:DOID:3055 A prolonged febrile illness commonly caused by several Paratyphi serotypes of SALMONELLA ENTERICA. It is similar to TYPHOID FEVER but less severe. MESH:D012480 C01.150.252.400.310.821.438 C01.150.252.400.310.821 Fever, Paratyphoid|Fevers, Paratyphoid|Paratyphoid Fevers Bacterial infection or mycosis PARC syndrome MESH:C537174 MESH:D000505|MESH:D002972|MESH:D011038|MESH:D063173 C05.500.460.185/C537174|C05.500.460.827/C537174|C05.660.207.540.460.185/C537174|C05.660.207.540.460.827/C537174|C07.320.440.185/C537174|C07.320.440.827/C537174|C07.320.610.827/C537174|C07.465.525.185/C537174|C07.650.500.460.185/C537174|C07.650.500.460.827/C537174|C07.650.525.185/C537174|C16.131.621.207.540.460.185/C537174|C16.131.621.207.540.460.827/C537174|C16.131.831.775/C537174|C16.131.850.500.460.185/C537174|C16.131.850.500.460.827/C537174|C16.131.850.525.185/C537174|C16.320.850.765/C537174|C16.614.760/C537174|C17.800.329.937.122/C537174|C17.800.804.775/C537174|C17.800.827.775/C537174|C18.452.284.760/C537174|C23.300.035/C537174 C05.500.460.185|C05.500.460.827|C05.660.207.540.460.185|C05.660.207.540.460.827|C07.320.440.185|C07.320.440.827|C07.320.610.827|C07.465.525.185|C07.650.500.460.185|C07.650.500.460.827|C07.650.525.185|C16.131.621.207.540.460.185|C16.131.621.207.540.460.827|C16.131.831.775|C16.131.850.500.460.185|C16.131.850.500.460.827|C16.131.850.525.185|C16.320.850.765|C16.614.760|C17.800.329.937.122|C17.800.804.775|C17.800.827.775|C18.452.284.760|C23.300.035 Poikiloderma, Alopecia, Retrognathism, and Cleft palate Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition)|Skin disease Parental Death MESH:D063129 The death of the father or mother or another person in this role. MESH:D003643 C23.550.260.730 C23.550.260 Death, Parental|Death, Paternal|Deaths, Parental|Deaths, Paternal|Parental Deaths|Paternal Death|Paternal Deaths Pathology (process) Paresis MESH:D010291 A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for PARALYSIS (severe or complete loss of motor function). In the older literature, paresis often referred specifically to paretic neurosyphilis (see NEUROSYPHILIS). 'General paresis' and 'general paralysis' may still carry that connotation. Bilateral lower extremity paresis is referred to as PARAPARESIS. MESH:D009461 C10.597.636|C23.888.592.643 C10.597|C23.888.592 Brachial Pareses|Brachial Paresis|Crural Pareses|Crural Paresis|Extremity Pareses, Lower|Extremity Pareses, Upper|Extremity Paresis, Lower|Extremity Paresis, Upper|Hemipareses|Hemiparesis|Lower Extremity Pareses|Lower Extremity Paresis|Monopareses|Monoparesis|Muscle Pareses|Muscle Paresis|Muscular Pareses|Muscular Paresis|Pareses|Pareses, Brachial|Pareses, Crural|Pareses, Lower Extremity|Pareses, Muscle|Pareses, Muscular|Pareses, Upper Extremity|Paresis, Brachial|Paresis, Crural|Paresis, Lower Extremity|Paresis, Muscle|Paresis, Muscular|Paresis, Upper Extremity|Upper Extremity Pareses|Upper Extremity Paresis Nervous system disease|Signs and symptoms Paresthesia MESH:D010292 Subjective cutaneous sensations (e.g., cold, warmth, tingling, pressure, etc.) that are experienced spontaneously in the absence of stimulation. MESH:D020886 C10.597.751.791.875|C23.888.592.763.770.875 C10.597.751.791|C23.888.592.763.770 Distal Paresthesia|Distal Paresthesias|Dysesthesia|Dysesthesias|Formication|Formications|Painful Paresthesia|Painful Paresthesias|Paresthesia, Distal|Paresthesia, Painful|Paresthesias|Paresthesias, Distal|Paresthesias, Painful Nervous system disease|Signs and symptoms Parietal Foramina MESH:C566826 DO:DOID:0060285|OMIM:168500 MESH:D004677 C10.500.680.488/C566826|C16.131.666.680.488/C566826|C23.300.707.186/C566826 C10.500.680.488|C16.131.666.680.488|C23.300.707.186 Catlin Marks|Cranium Bifidum, Hereditary|Cranium Bifidum Occultum|Enlarged Parietal Foramina|Foramina Parietalia Permagna|FPP|PARIETAL FORAMINA 1|Parietal Foramina, Symmetric|PFM|PFM1 Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Parietal Foramina 1 MESH:C566827 MESH:D004677 C10.500.680.488/C566827|C16.131.666.680.488/C566827|C23.300.707.186/C566827 C10.500.680.488|C16.131.666.680.488|C23.300.707.186 Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Parietal Foramina 2 MESH:C566510 OMIM:609597 MESH:D004677 C10.500.680.488/C566510|C16.131.666.680.488/C566510|C23.300.707.186/C566510 C10.500.680.488|C16.131.666.680.488|C23.300.707.186 PFM2 Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Parietal Foramina 3 MESH:C563697 OMIM:609566 MESH:D004677 C10.500.680.488/C563697|C16.131.666.680.488/C563697|C23.300.707.186/C563697 C10.500.680.488|C16.131.666.680.488|C23.300.707.186 PFM3 Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Parietal Foramina With Cleidocranial Dysplasia MESH:C566825 OMIM:168550 MESH:D002973|MESH:D004677 C05.116.099.708.207/C566825|C05.660.207.207/C566825|C10.500.680.488/C566825|C16.131.621.207.207/C566825|C16.131.666.680.488/C566825|C23.300.707.186/C566825 C05.116.099.708.207|C05.660.207.207|C10.500.680.488|C16.131.621.207.207|C16.131.666.680.488|C23.300.707.186 Cleidocranial Dysplasia With Parietal Foramina|PFMCCD Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Parkinson Disease MESH:D010300 DO:DOID:14330 A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75) MESH:D000080874|MESH:D020734 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 C10.228.140.079.862|C10.228.662.600|C10.574.928 Idiopathic Parkinson Disease|Idiopathic Parkinson's Disease|Lewy Body Parkinson Disease|Lewy Body Parkinson's Disease|Paralysis Agitans|Parkinson Disease, Idiopathic|Parkinsonism, Primary|Parkinson's Disease|Parkinson's Disease, Idiopathic|Parkinson's Disease, Lewy Body|Primary Parkinsonism Nervous system disease Parkinson Disease 10 MESH:C564653 OMIM:606852 MESH:D010300 C10.228.140.079.862.500/C564653|C10.228.662.600.400/C564653|C10.574.928.750/C564653 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 AAOPD|PARK10|Parkinson Disease, Age At Onset Of Nervous system disease Parkinson Disease 11 MESH:C564345 OMIM:607688 MESH:D010300 C10.228.140.079.862.500/C564345|C10.228.662.600.400/C564345|C10.574.928.750/C564345 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK11|PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO Nervous system disease Parkinson Disease 12 MESH:C564486 OMIM:300557 MESH:D010300|MESH:D040181 C10.228.140.079.862.500/C564486|C10.228.662.600.400/C564486|C10.574.928.750/C564486|C16.320.322/C564486 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750|C16.320.322 PARK12|Parkinson Disease, X-Linked Genetic disease (inborn)|Nervous system disease Parkinson Disease 13 MESH:C565204 OMIM:610297 MESH:D010300 C10.228.140.079.862.500/C565204|C10.228.662.600.400/C565204|C10.574.928.750/C565204 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK13|PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO Nervous system disease PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE OMIM:612953 DO:DOID:0060900 MESH:D010300 C10.228.140.079.862.500/612953|C10.228.662.600.400/612953|C10.574.928.750/612953 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 DYSTONIA-PARKINSONISM, ADULT-ONSET|PARK14 Nervous system disease Parkinson Disease 16 MESH:C567726 OMIM:613164 MESH:D010300 C10.228.140.079.862.500/C567726|C10.228.662.600.400/C567726|C10.574.928.750/C567726 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK16 Nervous system disease PARKINSON DISEASE 17 OMIM:614203 DO:DOID:0060897 MESH:D010300 C10.228.140.079.862.500/614203|C10.228.662.600.400/614203|C10.574.928.750/614203 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK17 Nervous system disease PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO OMIM:614251 MESH:D010300 C10.228.140.079.862.500/614251|C10.228.662.600.400/614251|C10.574.928.750/614251 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK18 Nervous system disease PARKINSON DISEASE 19A, JUVENILE-ONSET OMIM:615528 DO:DOID:0060891 MESH:D010300 C10.228.140.079.862.500/615528|C10.228.662.600.400/615528|C10.574.928.750/615528 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK19A|PARK19B, INCLUDED|PARK19, FORMERLY PARKINSON DISEASE 19B, EARLY-ONSET, INCLUDED Nervous system disease PARKINSON DISEASE 1, AUTOSOMAL DOMINANT OMIM:168601 DO:DOID:0060367 MESH:D010300 C10.228.140.079.862.500/168601|C10.228.662.600.400/168601|C10.574.928.750/168601 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK1|PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY ATYPICAL PARKINSON DISEASE, INCLUDED Nervous system disease PARKINSON DISEASE 20, EARLY-ONSET OMIM:615530 DO:DOID:0060898 MESH:D010300 C10.228.140.079.862.500/615530|C10.228.662.600.400/615530|C10.574.928.750/615530 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK20 Nervous system disease PARKINSON DISEASE 21 OMIM:616361 DO:DOID:0111251 MESH:D010300 C10.228.140.079.862.500/616361|C10.228.662.600.400/616361|C10.574.928.750/616361 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK21 Nervous system disease PARKINSON DISEASE 22, AUTOSOMAL DOMINANT OMIM:616710 DO:DOID:0080504 MESH:D010300 C10.228.140.079.862.500/616710|C10.228.662.600.400/616710|C10.574.928.750/616710 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK22 Nervous system disease PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET OMIM:616840 DO:DOID:0060896 MESH:D010300 C10.228.140.079.862.500/616840|C10.228.662.600.400/616840|C10.574.928.750/616840 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK23 Nervous system disease Parkinson disease 3 MESH:C537176 MESH:D010300 C10.228.140.079.862.500/C537176|C10.228.662.600.400/C537176|C10.574.928.750/C537176 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 Nervous system disease Parkinson Disease 3, Autosomal Dominant Lewy Body MESH:C566552 OMIM:602404 MESH:D010300 C10.228.140.079.862.500/C566552|C10.228.662.600.400/C566552|C10.574.928.750/C566552 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK3|Parkinson Disease 3, Autosomal Dominant|PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY Nervous system disease Parkinson Disease 4, Autosomal Dominant Lewy Body MESH:C565324 OMIM:605543 MESH:D010300|MESH:D020961 C10.228.140.079.862.400/C565324|C10.228.140.079.862.500/C565324|C10.228.140.380.422/C565324|C10.228.662.600.200/C565324|C10.228.662.600.400/C565324|C10.574.928.500/C565324|C10.574.928.750/C565324|F03.615.400.512/C565324 C10.228.140.079.862.400|C10.228.140.079.862.500|C10.228.140.380.422|C10.228.662.600.200|C10.228.662.600.400|C10.574.928.500|C10.574.928.750|F03.615.400.512 Park4|PARKINSON DISEASE 4, AUTOSOMAL DOMINANT|PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY Mental disorder|Nervous system disease Parkinson Disease 5 MESH:C566017 MESH:D020734 C10.228.140.079.862/C566017|C10.228.662.600/C566017 C10.228.140.079.862|C10.228.662.600 Nervous system disease PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO OMIM:613643 MESH:D010300 C10.228.140.079.862.500/613643|C10.228.662.600.400/613643|C10.574.928.750/613643 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK5 Nervous system disease Parkinson Disease 6, Autosomal Recessive Early-Onset MESH:C565276 OMIM:605909 MESH:D010300 C10.228.140.079.862.500/C565276|C10.228.662.600.400/C565276|C10.574.928.750/C565276 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK6|Parkinson Disease 6, Early-Onset|PARKINSON DISEASE 6, EARLY-ONSET;PARK6 PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED|Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1-Dj1|PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1, INCLUDED Nervous system disease Parkinson Disease 7, Autosomal Recessive Early-Onset MESH:C565238 OMIM:606324 MESH:D010300 C10.228.140.079.862.500/C565238|C10.228.662.600.400/C565238|C10.574.928.750/C565238 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK7 Nervous system disease Parkinson Disease 8 MESH:C564631 MESH:D020734 C10.228.140.079.862/C564631|C10.228.662.600/C564631 C10.228.140.079.862|C10.228.662.600 Nervous system disease PARKINSON DISEASE 8, AUTOSOMAL DOMINANT OMIM:607060 DO:DOID:0060371 MESH:D010300 C10.228.140.079.862.500/607060|C10.228.662.600.400/607060|C10.574.928.750/607060 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK8 Nervous system disease Parkinson Disease, Familial, Type 1 MESH:C566823 MESH:D010300 C10.228.140.079.862.500/C566823|C10.228.662.600.400/C566823|C10.574.928.750/C566823 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 Atypical Parkinson Disease|Lewy Body Parkinsonism|Parkinson Disease, Autosomal Dominant Nervous system disease PARKINSON DISEASE, LATE-ONSET OMIM:168600 DO:DOID:0060892 MESH:D010300 C10.228.140.079.862.500/168600|C10.228.662.600.400/168600|C10.574.928.750/168600 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750 PARK|PD Nervous system disease Parkinson Disease, Mitochondrial MESH:C564015 OMIM:556500 MESH:D010300|MESH:D028361 C10.228.140.079.862.500/C564015|C10.228.662.600.400/C564015|C10.574.928.750/C564015|C18.452.660/C564015 C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750|C18.452.660 Metabolic disease|Nervous system disease Parkinson Disease, Postencephalitic MESH:D010301 DO:DOID:14332 Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754) MESH:D010302 C10.228.140.079.862.800.600|C10.228.662.600.700.500 C10.228.140.079.862.800|C10.228.662.600.700 Economo-Type Parkinsonism, Postencephalitic|Encephalitis Lethargica Type Parkinsonism|Meningoencephalitic Parkinsonism, Viral|Parkinson Disease, Post Encephalitic|Parkinson Disease, Post-Encephalitic|Parkinsonian Syndrome, Postencephalitis|Parkinsonism, Postencephalitic|Parkinsonism, Postencephalitic Economo-Type|Parkinsonisms, Viral Meningoencephalitic|Parkinsonism, Viral Meningoencephalitic|Postencephalitic Economo Type Parkinsonism|Postencephalitic Economo-Type Parkinsonism|Postencephalitic Parkinson Disease|Post Encephalitic Parkinson Disease|Post-Encephalitic Parkinson Disease|Postencephalitic Parkinsonism|Postencephalitis Parkinsonian Syndrome|Viral Meningoencephalitic Parkinsonism|von Economo Encephalitis Type Parkinsonism Nervous system disease Parkinson Disease, Secondary MESH:D010302 DO:DOID:13548 Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42) MESH:D020734 C10.228.140.079.862.800|C10.228.662.600.700 C10.228.140.079.862|C10.228.662.600 Atherosclerotic Parkinsonism|Parkinson Disease, Secondary Vascular|Parkinson Disease, Symptomatic|Parkinsonism, Atherosclerotic|Parkinsonism, Secondary|Parkinsonism, Symptomatic|Secondary Parkinson Disease|Secondary Parkinsonism|Secondary Vascular Parkinson Disease|Symptomatic Parkinson Disease|Symptomatic Parkinsonism Nervous system disease Parkinsonian Disorders MESH:D020734 OMIM:600116 A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA. MESH:D001480|MESH:D009069 C10.228.140.079.862|C10.228.662.600 C10.228.140.079|C10.228.662 Autosomal Dominant Juvenile Parkinson Disease|Autosomal Dominant Juvenile Parkinsonism|Autosomal Dominant Parkinsonism|Autosomal Recessive Juvenile Parkinson Disease|Autosomal Recessive Juvenile Parkinsonism|Autosomal Recessive Parkinsonism|Chromosome 6 Linked Autosomal Recessive Parkinsonism|Chromosome 6-Linked Autosomal Recessive Parkinsonism|Diseases, Experimental Parkinson|Dominant Parkinsonism, Autosomal|EPDF|Experimental Parkinson Disease|Experimental Parkinson Diseases|Experimental Parkinsonism|Experimental Parkinsonism, MPTP Induced|Experimental Parkinsonism, MPTP-Induced|Experimental Parkinsonisms|Familial Juvenile Parkinsonism|Familial Parkinson Disease, Autosomal Recessive|Juvenile Parkinson Disease|Juvenile Parkinson Disease, Autosomal Dominant|Juvenile Parkinson Disease, Autosomal Recessive|Juvenile Parkinsonism|Juvenile Parkinsonism, Autosomal Dominant|Juvenile Parkinsonism, Autosomal Recessive|Juvenile Parkinsonism, Familial|Juvenile Parkinsonisms|MPTP Induced Experimental Parkinsonism|MPTP-Induced Experimental Parkinsonism|PARK2|Parkinson Disease 2|Parkinson Disease 2, Autosomal Recessive Juvenile|Parkinson Disease, Autosomal Dominant. Juvenile|Parkinson Disease Autosomal Recessive, Early Onset|Parkinson Disease, Experimental|Parkinson Disease, Familial, Autosomal Recessive|Parkinson Disease, Juvenile|Parkinson Disease, Juvenile, Autosomal Dominant|Parkinson Disease, Juvenile, Autosomal Recessive|Parkinson Diseases, Experimental|Parkinsonian Diseases|Parkinsonian Syndrome|Parkinsonian Syndromes|Parkinsonism|Parkinsonism, Autosomal Dominant|Parkinsonism, Autosomal Recessive|Parkinsonism, Early Onset, with Diurnal Fluctuation|Parkinsonism, Early-Onset, With Diurnal Fluctuation|Parkinsonism, Experimental|Parkinsonism, Familial Juvenile|Parkinsonism, Juvenile|Parkinsonism, Juvenile, Autosomal Dominant|Parkinsonism, Juvenile, Autosomal Recessive|Parkinsonism, MPTP-Induced Experimental|Parkinsonisms, Experimental|Parkinsonisms, Juvenile|PDJ|Ramsay Hunt Paralysis Syndrome|Recessive Parkinsonism, Autosomal Nervous system disease Parkinsonism-Dystonia, Infantile MESH:C567730 OMIM:613135 MESH:D010300|MESH:D020821 C10.228.140.079.862.500/C567730|C10.228.662.300/C567730|C10.228.662.600.400/C567730|C10.574.928.750/C567730 C10.228.140.079.862.500|C10.228.662.300|C10.228.662.600.400|C10.574.928.750 DOPAMINE TRANSPORTER DEFICIENCY SYNDROME|DTDS|PARKINSONISM-DYSTONIA 1, INFANTILE-ONSET|PKDYS|PKDYS1 Nervous system disease Parkinsonism, early onset with mental retardation MESH:C537179 OMIM:311510 MESH:D001480|MESH:D008607|MESH:D010300|MESH:D040181 C10.228.140.079.862.500/C537179|C10.228.140.079/C537179|C10.228.662.600.400/C537179|C10.574.928.750/C537179|C10.597.606.360/C537179|C16.320.322/C537179|C23.888.592.604.646/C537179|F03.625.539/C537179 C10.228.140.079|C10.228.140.079.862.500|C10.228.662.600.400|C10.574.928.750|C10.597.606.360|C16.320.322|C23.888.592.604.646|F03.625.539 Basal ganglia disorder with mental retardation|Basal Ganglion Disorder With Mental Retardation|BGMR|Laxova Brown Hogan syndrome|Parkinsonism, Early-Onset, With Mental Retardation|Waisman syndrome|WSMN|WSN|X-linked recessive basal ganglia disorder with mental retardation Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms PARKINSONISM WITH SPASTICITY, X-LINKED OMIM:300911 DO:DOID:0112105 MESH:D020734 C10.228.140.079.862/300911|C10.228.662.600/300911 C10.228.140.079.862|C10.228.662.600 XPDS Nervous system disease Paronychia MESH:D010304 DO:DOID:13117 An inflammatory reaction involving the folds of the skin surrounding the fingernail. It is characterized by acute or chronic purulent, tender, and painful swellings of the tissues around the nail, caused by an abscess of the nail fold. The pathogenic yeast causing paronychia is most frequently Candida albicans. Saprophytic fungi may also be involved. The causative bacteria are usually Staphylococcus, Pseudomonas aeruginosa, or Streptococcus. (Andrews' Diseases of the Skin, 8th ed, p271) MESH:D009260|MESH:D012874 C01.800.460|C17.800.529.639|C17.800.838.486 C01.800|C17.800.529|C17.800.838 Paronychias Skin disease Parotid Aplasia or Hypoplasia MESH:C566702 MESH:D010305 C07.465.815.470/C566702 C07.465.815.470 Mouth disease Parotid Diseases MESH:D010305 DO:DOID:10302 Diseases involving the PAROTID GLAND. MESH:D012466 C07.465.815.470 C07.465.815 Disease, Parotid|Diseases, Parotid|Parotid Disease Mouth disease Parotid Neoplasms MESH:D010307 DO:DOID:9036 Tumors or cancer of the PAROTID GLAND. MESH:D010305|MESH:D012468 C04.588.443.591.824.695|C07.465.530.824.695|C07.465.815.470.770|C07.465.815.718.589 C04.588.443.591.824|C07.465.530.824|C07.465.815.470|C07.465.815.718 Cancer of Parotid|Cancer of the Parotid|Cancer, Parotid|Cancers, Parotid|Neoplasm, Parotid|Neoplasms, Parotid|Parotid Cancer|Parotid Cancers|Parotid Neoplasm Cancer|Mouth disease Parotidomegaly, Hereditary Bilateral MESH:C566821 MESH:D030342 C16.320/C566821 C16.320 Genetic disease (inborn) Parotid Salivary Glands, Polycystic Disease of MESH:C563951 MESH:D012466 C07.465.815/C563951 C07.465.815 Mouth disease Parotitis MESH:D010309 DO:DOID:10301 INFLAMMATION of the PAROTID GLAND. MESH:D010305|MESH:D012793 C07.465.815.470.800|C07.465.815.793.500 C07.465.815.470|C07.465.815.793 Parotiditides|Parotiditis|Parotitides Mouth disease Parotitis, Juvenile Recurrent MESH:C566359 MESH:D010309 C07.465.815.470.800/C566359|C07.465.815.793.500/C566359 C07.465.815.470.800|C07.465.815.793.500 Mouth disease Parovarian Cyst MESH:D010310 DO:DOID:4333 A cyst (CYSTS) near the OVARY, derived from anomalies of the FALLOPIAN TUBES or the BROAD LIGAMENT. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni). MESH:D003560 C04.182.668|C23.300.306.500 C04.182|C23.300.306 Cyst, Paratubal|Cyst, Parovarian|Cysts, Paratubal|Cysts, Parovarian|Hydatid Cyst of Morgagni|Hydatid of Morgagni|Morgagni Hydatid|Morgagni Hydatid Cyst|Morgagni Hydatid Cysts|Morgagni Hydatids|Paratubal Cyst|Paratubal Cysts|Parovarian Cysts Cancer|Pathology (anatomical condition) Paroxysmal Exertion-Induced Dyskinesia And Hemolytic Anemia MESH:C567412 MESH:D000743|MESH:D020820 C10.228.662.262/C567412|C10.597.350/C567412|C15.378.071.141/C567412|C23.888.592.350/C567412 C10.228.662.262|C10.597.350|C15.378.071.141|C23.888.592.350 Blood disease|Nervous system disease|Signs and symptoms Paroxysmal Extreme Pain Disorder MESH:C563475 DO:DOID:0111537|OMIM:167400 MESH:D010146 C23.888.592.612/C563475 C23.888.592.612 Familial Rectal Pain|PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING|Pain, Submandibular, Ocular, wnd Rectal, with Flushing|PEPD|PEXPD|Rectal Pain, Familial|Submandibular, Ocular, and Rectal Pain with Flushing Signs and symptoms Paroxysmal Hemicrania MESH:D051302 A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS). MESH:D051303 C10.228.140.546.399.937.750 C10.228.140.546.399.937 Chronic Paroxysmal Hemicrania|Chronic Paroxysmal Hemicranias|Episodic Paroxysmal Hemicrania|Episodic Paroxysmal Hemicranias|Hemicrania, Chronic Paroxysmal|Hemicrania, Episodic Paroxysmal|Hemicrania, Paroxysmal|Hemicranias, Chronic Paroxysmal|Hemicranias, Episodic Paroxysmal|Hemicranias, Paroxysmal|Paroxysmal Hemicrania, Chronic|Paroxysmal Hemicrania, Episodic|Paroxysmal Hemicranias|Paroxysmal Hemicranias, Chronic|Paroxysmal Hemicranias, Episodic Nervous system disease Paroxysmal nonkinesigenic dyskinesia MESH:C537181 OMIM:118800 MESH:D002819 C10.228.662.262.249/C537181|C10.597.350.250/C537181|C23.888.592.350.250/C537181 C10.228.662.262.249|C10.597.350.250|C23.888.592.350.250 Choreoathetosis familial paroxysmal|Choreoathetosis, Familial Paroxysmal|Choreoathetosis, Nonkinesigenic|Dystonia 8|DYT8|Familial paroxysmal choreoathetosis|Familial Paroxysmal Nonkinesigenic Dyskinesia|FPD1|Mount-Reback syndrome|Nonkinesigenic choreoathetosis|Paroxysmal dystonic choreoathetosis|Paroxysmal Nonkinesigenic Dyskinesia 1|PDC|PNKD1 Nervous system disease|Signs and symptoms Paroxysmal Nonkinesigenic Dyskinesia 2 MESH:C567001 DO:DOID:0090047|OMIM:611147 MESH:D002819 C10.228.662.262.249/C567001|C10.597.350.250/C567001|C23.888.592.350.250/C567001 C10.228.662.262.249|C10.597.350.250|C23.888.592.350.250 Dystonia 20|DYT20|PNKD2 Nervous system disease|Signs and symptoms Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia MESH:C566817 MESH:D001259|MESH:D009069|MESH:D015835 C10.228.662/C566817|C10.228.758/C566817|C10.292.562/C566817|C10.597.350.090/C566817|C11.590/C566817|C23.888.592.350.090/C566817 C10.228.662|C10.228.758|C10.292.562|C10.597.350.090|C11.590|C23.888.592.350.090 Eye disease|Nervous system disease|Signs and symptoms Paroxysmal ventricular fibrillation MESH:C537182 OMIM:603829|OMIM:612956 MESH:D014693 C14.280.067.922/C537182|C23.550.073.922/C537182 C14.280.067.922|C23.550.073.922 Idiopathic ventricular fibrillation|IVF VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, INCLUDED|Paroxysmal familial ventricular fibrillation|Ventricular fibrillation, paroxysmal familial|VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1|VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2|VF|VF1|VF2 Cardiovascular disease|Pathology (process) Pars Planitis MESH:D015868 DO:DOID:12731 Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata. MESH:D002833|MESH:D015867 C11.941.160.478.700|C11.941.879.780.900.300.659|C11.941.879.900.500 C11.941.160.478|C11.941.879.780.900.300|C11.941.879.900 Planitis, Pars Eye disease Partial agenesis of corpus callosum MESH:C536111 MESH:D061085 C10.500.034/C536111|C16.131.666.034/C536111|C23.300.008/C536111 C10.500.034|C16.131.666.034|C23.300.008 Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Partial atrioventricular canal MESH:C536112 MESH:D006345 C14.240.400.560.540/C536112|C14.280.400.560.540/C536112|C16.131.240.400.560.540/C536112 C14.240.400.560.540|C14.280.400.560.540|C16.131.240.400.560.540 Atrial Septal Defect, Primum Type|Partial atrioventricular septal defects|Partial AVSD|Partial common atrioventricular canal Cardiovascular disease|Congenital abnormality Partial Duplication 15q Syndrome MESH:C538036 MESH:D014314|MESH:D025063 C16.131.260/C538036|C16.320.180/C538036|C23.550.210.050.750/C538036|C23.550.210.182.500/C538036 C16.131.260|C16.320.180|C23.550.210.050.750|C23.550.210.182.500 Chromosome 15, distal trisomy 15q|Chromosome 15, Trisomy 15q2|Distal Duplication 15q Congenital abnormality|Genetic disease (inborn)|Pathology (process) Partial lissencephaly MESH:C536298 MESH:D054082 C10.500.507.450.499/C536298|C16.131.666.507.450.499/C536298 C10.500.507.450.499|C16.131.666.507.450.499 Focal agyria pachygyria|Incomplete lissencephaly Congenital abnormality|Nervous system disease Partial Trisomy 3q Syndrome MESH:C537635 MESH:D014314|MESH:D025063 C16.131.260/C537635|C16.320.180/C537635|C23.550.210.050.750/C537635|C23.550.210.182.500/C537635 C16.131.260|C16.320.180|C23.550.210.050.750|C23.550.210.182.500 Chromosome 3, Distal 3q2 Trisomy|Chromosome 3, Trisomy 3q2|Partial Duplication 3q Syndrome Congenital abnormality|Genetic disease (inborn)|Pathology (process) Partington Anderson syndrome MESH:C536299 MESH:D002658|MESH:D006130|MESH:D008831|MESH:D019066 C05.660.207.620/C536299|C10.500.507.400.500/C536299|C16.131.621.207.620/C536299|C16.131.666.507.400.500/C536299|C23.550.291.812/C536299|C23.550.393/C536299|F03.625.421/C536299 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C23.550.291.812|C23.550.393|F03.625.421 Partington-Anderson Syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process) Partington X-linked mental retardation syndrome MESH:C536300 OMIM:309510 MESH:D001259|MESH:D012640|MESH:D038901 C10.597.350.090/C536300|C10.597.606.360.455/C536300|C10.597.742/C536300|C16.320.322.500/C536300|C16.320.400.525/C536300|C23.888.592.350.090/C536300|C23.888.592.742/C536300 C10.597.350.090|C10.597.606.360.455|C10.597.742|C16.320.322.500|C16.320.400.525|C23.888.592.350.090|C23.888.592.742 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 1|Mental retardation-dystonic movements-ataxia-seizures syndrome|Mental Retardation, X-Linked 36|Mental retardation, X-linked, syndromic 1|Mental retardation, X-linked, with dystonic movements, ataxia, and seizures|MRX36|MRXS1|Partington syndrome|PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME|PRTS Genetic disease (inborn)|Nervous system disease|Signs and symptoms Parturient Paresis MESH:D010319 A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes. MESH:D000820 C22.695 C22 Animal Milk Fever|Fever, Animal Milk|Milk Fever, Animal|Pareses, Parturient|Paresis, Parturient|Parturient Pareses Animal disease Parvoviridae Infections MESH:D010322 Virus infections caused by the PARVOVIRIDAE. MESH:D004266 C01.925.256.700 C01.925.256 Infection, Parvoviridae|Infection, Parvovirus|Infections, Parvoviridae|Infections, Parvovirus|Parvoviridae Infection|Parvovirus Infection|Parvovirus Infections Viral disease Parvovirus antenatal infection MESH:C536301 MESH:D016731 C01.925.256.700.300/C536301|C01.925.825.260/C536301|C17.800.229.335/C536301|C17.800.838.790.260/C536301 C01.925.256.700.300|C01.925.825.260|C17.800.229.335|C17.800.838.790.260 Maternofetal infection by parvovirus|Parvovirus B19 antenatal infection Skin disease|Viral disease Pascual Castroviejo syndrome MESH:C536302 MESH:D001932|MESH:D006391|MESH:D008113 C04.557.645.375/C536302|C04.588.274.623/C536302|C04.588.614.250.195/C536302|C06.301.623/C536302|C06.552.697/C536302|C10.228.140.211/C536302|C10.551.240.250/C536302 C04.557.645.375|C04.588.274.623|C04.588.614.250.195|C06.301.623|C06.552.697|C10.228.140.211|C10.551.240.250 Hemangiomas, and cutaneous and intracranial vascular deformations Cancer|Digestive system disease|Nervous system disease Pashayan syndrome MESH:C536303 MESH:D008607|MESH:D019465 C05.660.207/C536303|C10.597.606.360/C536303|C16.131.621.207/C536303|C23.888.592.604.646/C536303|F03.625.539/C536303 C05.660.207|C10.597.606.360|C16.131.621.207|C23.888.592.604.646|F03.625.539 Blepharonasofacial malformation syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Passive-Aggressive Personality Disorder MESH:D010324 A personality disorder characterized by an indirect resistance to demands for adequate social and occupational performance; anger and opposition to authority and the expectations of others that is expressed covertly by obstructionism, procrastination, stubbornness, dawdling, forgetfulness, and intentional inefficiency. (Dorland, 27th ed) MESH:D010554 F03.675.625 F03.675 Disorder, Negativistic Personality|Disorder, Passive-Aggressive Personality|Disorders, Negativistic Personality|Disorders, Passive-Aggressive Personality|Negativistic Personality Disorder|Negativistic Personality Disorders|Passive-Aggressive Personalities|Passive Aggressive Personality|Passive-Aggressive Personality|Passive Aggressive Personality Disorder|Passive Aggressive Personality Disorders|Passive-Aggressive Personality Disorders|Personalities, Passive-Aggressive|Personality Disorder, Negativistic|Personality Disorder, Passive Aggressive|Personality Disorder, Passive-Aggressive|Personality Disorders, Negativistic|Personality Disorders, Passive Aggressive|Personality Disorders, Passive-Aggressive|Personality, Passive-Aggressive Mental disorder Passovoy Factor MESH:C566820 MESH:D025861 C15.378.100.100/C566820|C16.320.099/C566820 C15.378.100.100|C16.320.099 Blood disease|Genetic disease (inborn) Pasteurellaceae Infections MESH:D016871 Infections with bacteria of the family PASTEURELLACEAE. MESH:D016905 C01.150.252.400.700 C01.150.252.400 Infection, Pasteurellaceae|Infections, Pasteurellaceae|Pasteurellaceae Infection Bacterial infection or mycosis Pasteurella Infections MESH:D010326 DO:DOID:11055 Infections with bacteria of the genus PASTEURELLA. MESH:D016871 C01.150.252.400.700.662 C01.150.252.400.700 Infection, Pasteurella|Infections, Pasteurella|Pasteurella Infection|Pasteurelloses|Pasteurellosis Bacterial infection or mycosis Pasteurellosis, Pneumonic MESH:D012766 Bovine respiratory disease found in animals that have been shipped or exposed to CATTLE recently transported. The major agent responsible for the disease is MANNHEIMIA HAEMOLYTICA and less commonly, PASTEURELLA MULTOCIDA or HAEMOPHILUS SOMNUS. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the LUNG. They are considered opportunistic pathogens following STRESS, PHYSIOLOGICAL and/or a viral infection. The resulting bacterial fibrinous BRONCHOPNEUMONIA is often fatal. MESH:D010253|MESH:D016871|MESH:D048090 C01.150.252.400.700.675|C01.748.085.600|C01.925.782.580.600.600.648|C08.730.085.600|C22.196.090.600 C01.150.252.400.700|C01.748.085|C01.925.782.580.600.600|C08.730.085|C22.196.090 Fever, Shipping|Pneumonic Pasteurellosis|Shipping Fever Animal disease|Bacterial infection or mycosis|Respiratory tract disease|Viral disease Patel Bixler syndrome MESH:C536306 MESH:D000505|MESH:D007645|MESH:D009260 C16.320.850.475/C536306|C17.800.329.937.122/C536306|C17.800.428.435/C536306|C17.800.529/C536306|C17.800.827.475/C536306|C23.300.035/C536306 C16.320.850.475|C17.800.329.937.122|C17.800.428.435|C17.800.529|C17.800.827.475|C23.300.035 Alopecia, dysplastic nails, palmar and plantar hyperkeratosis|Palmoplantar hyperkeratosis and alopecia Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease Patella aplasia, coxa vara, tarsal synostosis MESH:C536307 DO:DOID:0111382 MESH:D013580|MESH:D060905 C05.116.099.370.894/C536307|C05.116.214.500.500/C536307|C05.660.906/C536307|C16.131.621.906/C536307|C23.300.970.249.500/C536307 C05.116.099.370.894|C05.116.214.500.500|C05.660.906|C16.131.621.906|C23.300.970.249.500 Congenital coxa vara, patella aplasia and tarsal synostosis|Patella Aplasia, Coxa Vara, And Tarsal Synostosis Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition) Patella, Familial Recurrent Dislocation Of MESH:C566816 MESH:D004204|MESH:D007593 C05.550.518/C566816|C05.550.521/C566816|C26.289/C566816 C05.550.518|C05.550.521|C26.289 Musculoskeletal disease|Wounds and injuries Patella Fracture MESH:D000092462 Fractures of the PATELLA. MESH:D000092443 C26.404.525.375 C26.404.525 Fracture, Kneecap|Fracture, Patella|Kneecap Fracture|Kneecap Fractures|Patella Fractures Wounds and injuries Patella hypoplasia mental retardation MESH:C536308 MESH:D008607|MESH:D031222 C05.550.518.625/C536308|C10.597.606.360/C536308|C23.888.592.604.646/C536308|C26.289.625/C536308|C26.558.554.750/C536308|F03.625.539/C536308 C05.550.518.625|C10.597.606.360|C23.888.592.604.646|C26.289.625|C26.558.554.750|F03.625.539 Mental retardation with patellar hypoplasia and luxation Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Wounds and injuries Patellar Dislocation MESH:D031222 Displacement of the PATELLA from the femoral groove. MESH:D004204|MESH:D007718 C05.550.518.625|C26.289.625|C26.558.554.750 C05.550.518|C26.289|C26.558.554 Dislocation, Patellar|Dislocations, Patellar|Patellar Dislocations Musculoskeletal disease|Wounds and injuries Patellofemoral Pain Syndrome MESH:D046788 DO:DOID:14284 A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome. MESH:D007592 C05.550.700 C05.550 Anterior Knee Pain Syndrome|Pain, Patellofemoral|Pain Syndrome, Patellofemoral|Patellofemoral Pain|Patellofemoral Pains|Patellofemoral Syndrome Musculoskeletal disease Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies MESH:C565782 MESH:D000082882|MESH:D001022|MESH:D004374|MESH:D006228 C05.390.408/C565782|C05.660.585.988.425/C565782|C14.240.400.186/C565782|C14.240.400.340/C565782|C14.280.400.186/C565782|C14.280.400.340/C565782|C14.280.484.048.500/C565782|C14.280.484.048.875/C565782|C16.131.240.400.186/C565782|C16.131.240.400.340/C565782|C16.131.621.585.988.500/C565782 C05.390.408|C05.660.585.988.425|C14.240.400.186|C14.240.400.340|C14.280.400.186|C14.280.400.340|C14.280.484.048.500|C14.280.484.048.875|C16.131.240.400.186|C16.131.240.400.340|C16.131.621.585.988.500 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Patent Ductus Venosus MESH:C562830 MESH:D054079 C14.240.850/C562830|C16.131.240.850/C562830 C14.240.850|C16.131.240.850 Portosystemic Venous Shunt, Congenital Cardiovascular disease|Congenital abnormality Pathological Conditions, Anatomical MESH:D020763 An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases. MESH:D013568 C23.300 C23 Anatomical Pathological Condition|Anatomical Pathological Conditions|Condition, Anatomical Pathological|Conditions, Anatomical Pathological|Pathological Condition, Anatomical Pathology (anatomical condition) Pathological Conditions, Signs and Symptoms MESH:D013568 Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome. MESH:C C23 C Symptoms and General Pathology Pathologic Processes MESH:D010335 The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs. MESH:D013568 C23.550 C23 Pathological Processes|Processes, Pathologic|Processes, Pathological Pathology (process) Pathophobia MESH:C000719212 MESH:D010698 F03.080.725/C000719212 F03.080.725 Cancer phobia|Disease phobia|Fear of disease|Phobia, cancer|Phobia, disease Mental disorder Patterned dystrophy of retinal pigment epithelium MESH:C536309 OMIM:169150|OMIM:608970|OMIM:617111 MESH:D058499 C11.768.585.658/C536309 C11.768.585.658 Butterfly dystrophy of retinal pigment epithelium|Butterfly-shaped pigment dystrophy of the fovea|Macular dystrophy, butterfly-shaped pigmentary|Macular Dystrophy, Butterfly-Shaped Pigmentary, 2|MACULAR DYSTROPHY, PATTERNED, 1|MACULAR DYSTROPHY, PATTERNED, 2|MACULAR DYSTROPHY, PATTERNED, 3|MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY|MDPT1|MDPT2|MDPT3|PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM Eye disease Patterson pseudoleprechaunism syndrome MESH:C536310 MESH:D000015|MESH:D001848|MESH:D017495 C05.116.099/C536310|C16.131.077/C536310|C17.800.621.430/C536310 C05.116.099|C16.131.077|C17.800.621.430 Patterson's leprechaunoid syndrome Congenital abnormality|Musculoskeletal disease|Skin disease Patterson Stevenson syndrome MESH:C536311 MESH:D000013|MESH:D008342 C05.116.099.370.231.576/C536311|C05.660.207.231.576/C536311|C11.270.147.750/C536311|C16.131.621.207.231.576/C536311|C16.131/C536311 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C16.131|C16.131.621.207.231.576 Patterson Stevenson Fontaine syndrome|Patterson-Stevenson-Fontaine Syndrome|Polydactyly of Triphalangeal Thumb|Polydactyly, Preaxial II|Split-foot deformity with ectrodactyly and mandibulofacial dysostosis|Split-Foot Deformity With Mandibulofacial Dysostosis|TPT and PSD syndrome|Triphalangeal Thumb-Polydactyly Syndrome|Triphalangeal thumb polysyndactyly syndrome|Triphalangeal Thumb-Polysyndactyly Syndrome|Triphalangeal Thumb with Polysyndactyly Congenital abnormality|Eye disease|Musculoskeletal disease Pavone Fiumara Rizzo syndrome MESH:C536313 MESH:D002386|MESH:D008607|MESH:D013576 C05.116.099.370.894.819/C536313|C05.660.585.800/C536313|C05.660.906.819/C536313|C10.597.606.360/C536313|C11.510.245/C536313|C16.131.621.585.800/C536313|C16.131.621.906.819/C536313|C23.888.592.604.646/C536313|F03.625.539/C536313 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C10.597.606.360|C11.510.245|C16.131.621.585.800|C16.131.621.906.819|C23.888.592.604.646|F03.625.539 Syndactyly type 1 with cataracts and mental retardation Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Pdgfra-Associated Chronic Eosinophilic Leukemia MESH:C580364 MESH:D007938|MESH:D017681 C04.557.337/C580364|C15.378.553.231.549/C580364 C04.557.337|C15.378.553.231.549 Chronic Eosinophilic Leukemia|Pdgfra-Associated Myeloproliferative Neoplasm Blood disease|Cancer Pdgfrb-Associated Chronic Eosinophilic Leukemia MESH:C580365 MESH:D015477|MESH:D017681 C04.557.337.539.522/C580365|C15.378.190.615.510/C580365|C15.378.553.231.549/C580365|C23.550.291.500.495/C580365 C04.557.337.539.522|C15.378.190.615.510|C15.378.553.231.549|C23.550.291.500.495 Atypical Philadelphia-Negative Chronic Myeloid Leukemia|Chronic Myeloproliferative Disorder with Eosinophilia|Clonal Eosinophilia with Chronic Myeloproliferative Disorder|Primary Eosinophilia with Chronic Myeloproliferative Disorder Blood disease|Cancer|Pathology (process) Peanut Hypersensitivity MESH:D021183 DO:DOID:4378 Allergic reaction to peanuts that is triggered by the immune system. MESH:D000074924 C20.543.480.370.572.750 C20.543.480.370.572 Allergies, Peanut|Allergy, Peanut|Groundnut Hypersensitivity|Hypersensitivity, Groundnut|Hypersensitivity, Peanut|Peanut Allergies|Peanut Allergy Immune system disease Pechet Factor Deficiency MESH:C566814 MESH:D025861 C15.378.100.100/C566814|C16.320.099/C566814 C15.378.100.100|C16.320.099 Dynia Factor Deficiency Blood disease|Genetic disease (inborn) Pectoralis Muscle, Absence of MESH:C566793 MESH:D009135 C05.651/C566793|C10.668.491/C566793 C05.651|C10.668.491 Musculoskeletal disease|Nervous system disease Pectus Carinatum MESH:D066166 A developmental anomaly characterized by abnormal anterior protrusion of the STERNUM and adjacent COSTAL CARTILAGE. MESH:D001848|MESH:D002357|MESH:D009139 C05.116.099.739|C05.182.525|C05.660.745|C16.131.621.745|C17.300.182.525 C05.116.099|C05.182|C05.660|C16.131.621|C17.300.182 Arcuate Pectus Carinatum|Arcuate Pectus Carinatums|Breast, Pouter Pigeon|Breasts, Pouter Pigeon|Carinatum, Arcuate Pectus|Carinatum, Chondrogladiolar Pectus|Carinatum, Chondromanubrial Pectus|Carinatum, Pectus|Carinatums, Arcuate Pectus|Carinatums, Chondrogladiolar Pectus|Carinatums, Chondromanubrial Pectus|Carinatums, Pectus|Chondrogladiolar Pectus Carinatum|Chondrogladiolar Pectus Carinatums|Chondromanubrial Pectus Carinatum|Chondromanubrial Pectus Carinatums|Currarino Silverman Syndrome|Currarino-Silverman Syndrome|Pectus Carinatum, Arcuate|Pectus Carinatum, Chondrogladiolar|Pectus Carinatum, Chondromanubrial|Pectus Carinatums|Pectus Carinatums, Arcuate|Pectus Carinatums, Chondrogladiolar|Pectus Carinatums, Chondromanubrial|Pigeon Breast, Pouter|Pigeon Breasts, Pouter|Pouter Pigeon Breast|Pouter Pigeon Breasts|Syndrome, Currarino-Silverman Congenital abnormality|Connective tissue disease|Musculoskeletal disease Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails MESH:C563941 MESH:D005660|MESH:D006130|MESH:D009260|MESH:D058627 C05.116.099.386/C563941|C05.660.207.536/C563941|C05.660.386/C563941|C10.500.507.400.249/C563941|C16.131.621.207.532/C563941|C16.131.621.386/C563941|C16.131.666.507.400.249/C563941|C17.800.529/C563941|C23.550.393/C563941 C05.116.099.386|C05.660.207.536|C05.660.386|C10.500.507.400.249|C16.131.621.207.532|C16.131.621.386|C16.131.666.507.400.249|C17.800.529|C23.550.393 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Skin disease Pediatric acute-onset neuropsychiatric syndrome MESH:C000631768 MESH:D001327|MESH:D009771 C20.111/C000631768|F03.080.600/C000631768 C20.111|F03.080.600 PANS pediatric acute-onset neuropsychiatric syndrome Immune system disease|Mental disorder Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections MESH:C537163 MESH:D001327|MESH:D009771|MESH:D013290 C01.150.252.410.890/C537163|C20.111/C537163|F03.080.600/C537163 C01.150.252.410.890|C20.111|F03.080.600 PANDAS Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections Bacterial infection or mycosis|Immune system disease|Mental disorder Pediatric Crohn's disease MESH:C536215 MESH:D003424 C06.405.205.731.500/C536215|C06.405.469.432.500/C536215 C06.405.205.731.500|C06.405.469.432.500 Crohn's disease, pediatric|Pediatric onset Crohn's disease Digestive system disease pediatric multisystem inflammatory disease, COVID-19 related MESH:C000705967 MESH:D000086382|MESH:D018746 C01.748.610.763.500/C000705967|C01.925.705.500/C000705967|C01.925.782.600.550.200.163/C000705967|C08.381.677.807.500/C000705967|C08.730.610.763.500/C000705967|C23.550.470.790/C000705967|C23.550.835.900/C000705967 C01.748.610.763.500|C01.925.705.500|C01.925.782.600.550.200.163|C08.381.677.807.500|C08.730.610.763.500|C23.550.470.790|C23.550.835.900 MIS-C associated with COVID-19|MISC associated with COVID-19|MIS-C multisystem inflammatory syndrome in children|multi-system inflammatory disease, pediatric, COVID-19 related|multisystem inflammatory disease, pediatric, COVID-19 related|multisystem inflammatory syndrome in children|multisystem inflammatory syndrome in children MIS-C associated with COVID-19|multi-system inflammatory syndrome, pediatric, COVID-19 related|multisystem inflammatory syndrome, pediatric, COVID-19 related|pediatric inflammatory multisystem syndrome|pediatric multi-system inflammatory disease, COVID-19 related|pediatric multi-system inflammatory syndrome, COVID-19 related|pediatric multisystem inflammatory syndrome, COVID-19 related|pediatric multi-system inflammatory syndrome, SARS-CoV-2 related|pediatric multisystem inflammatory syndrome, SARS-CoV-2 related|PIMS-TS Pathology (process)|Respiratory tract disease|Viral disease Pediatric Obesity MESH:D063766 BODY MASS INDEX in children (ages 2-12) and in adolescents (ages 13-18) that is grossly above the recommended cut-off for a specific age and sex. For infants less than 2 years of age, obesity is determined based on standard weight-for-length percentile measures. MESH:D009765 C18.654.726.750.500.720|C23.888.144.699.500.750 C18.654.726.750.500|C23.888.144.699.500 Adolescent Obesity|Adolescent Overweight|Childhood Obesity|Childhood Onset Obesity|Childhood Overweight|Child Obesity|Infantile Obesity|Infant Obesity|Infant Overweight|Obesity, Adolescent|Obesity, Child|Obesity, Childhood|Obesity, Childhood Onset|Obesity in Adolescence|Obesity in Childhood|Obesity, Infant|Obesity, Infantile|Obesity, Pediatric|Overweight, Adolescent|Overweight, Childhood|Overweight, Infant Nutrition disorder|Signs and symptoms Pediatric ulcerative colitis MESH:C536315 MESH:D003093 C06.405.205.265.231/C536315|C06.405.205.731.249/C536315|C06.405.469.158.188.231/C536315|C06.405.469.432.249/C536315 C06.405.205.265.231|C06.405.205.731.249|C06.405.469.158.188.231|C06.405.469.432.249 Ulcerative colitis, pediatric Digestive system disease Pedophilia MESH:D010378 DO:DOID:13351 A sexual disorder occurring in a person 16 years or older and that is recurrent with intense sexually arousing fantasies, sexual urges, or behaviors involving sexual activity with a prepubescent child (generally age 13 or younger). (from APA, DSM-IV, 1994). MESH:D010262 F03.657.600 F03.657 Pederasties|Pederasty|Pedophilias Mental disorder Peeling Skin Syndrome MESH:C564818 DO:DOID:0060283|OMIM:270300|OMIM:616265|OMIM:617115 MESH:D003873|MESH:D012873 C16.320.850/C564818|C17.800.174.318/C564818|C17.800.815.318/C564818|C17.800.827/C564818 C16.320.850|C17.800.174.318|C17.800.815.318|C17.800.827 Deciduous Skin|Keratolysis Exfoliativa Congenita|Peeling skin syndrome 1|PEELING SKIN SYNDROME 3|PEELING SKIN SYNDROME 5|PSS|PSS1|PSS3|PSS5|Skin Peeling, Familial Continuous Generalized Genetic disease (inborn)|Skin disease Peeling skin syndrome, acral type MESH:C536316 OMIM:609796 MESH:D012871 C17.800/C536316 C17.800 Acral peeling skin syndrome|APSS|Peeling skin syndrome 2|PEELING SKIN SYNDROME, ACRAL TYPE|PSS2 Skin disease PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS OMIM:616295 MESH:D002613|MESH:D007642 C07.465.409.215/616295|C17.800.428/616295 C07.465.409.215|C17.800.428 PLACK Mouth disease|Skin disease PEHO syndrome MESH:C536317 DO:DOID:0080539|OMIM:260565 MESH:D001929|MESH:D009896|MESH:D013036|MESH:D019636 C10.228.140.187/C536317|C10.228.140.490.375.760/C536317|C10.228.140.490.493.875/C536317|C10.292.700.225/C536317|C10.574/C536317|C11.640.451/C536317 C10.228.140.187|C10.228.140.490.375.760|C10.228.140.490.493.875|C10.292.700.225|C10.574|C11.640.451 Infantile cerebellooptic atrophy|PEHO|PEHO-Like Syndrome|Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy Eye disease|Nervous system disease Pelger-Huet Anomaly MESH:D010381 DO:DOID:9631|OMIM:169400 Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures. MESH:D007960|MESH:D030342 C15.378.553.696|C16.320.784 C15.378.553|C16.320 Anomaly, Pelger-Huet|Anomaly, Pelger-Huët|Anomaly, Pelger-Huet Nuclear|Anomaly, Pelger-Huët Nuclear|Anomaly, Pseudo Pelger-Huet|Anomaly, Pseudo Pelger-Huët|Nuclear Anomaly, Pelger-Huet|Nuclear Anomaly, Pelger-Huët|Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities|Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities|Pelger Huet Anomaly|Pelger Huët Anomaly|Pelger-Huët Anomaly|Pelger-Huet Anomaly, Pseudo|Pelger-Huët Anomaly, Pseudo|Pelger Huet Nuclear Anomaly|Pelger-Huet Nuclear Anomaly|Pelger Huët Nuclear Anomaly|Pelger-Huët Nuclear Anomaly|PHA|Pseudo Pelger Huet Anomaly|Pseudo Pelger-Huet Anomaly|Pseudo Pelger Huët Anomaly|Pseudo Pelger-Huët Anomaly|Pseudo Pelger Huet Nuclear Anomaly|Pseudo Pelger-Huet Nuclear Anomaly Blood disease|Genetic disease (inborn) Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain MESH:C564899 MESH:D005334|MESH:D007960|MESH:D015746 C15.378.553/C564899|C23.888.119.344/C564899|C23.888.592.612.054/C564899|C23.888.821.030/C564899 C15.378.553|C23.888.119.344|C23.888.592.612.054|C23.888.821.030 Blood disease|Signs and symptoms Peliosis Hepatis MESH:D010382 DO:DOID:914 A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs. MESH:D008107|MESH:D014652 C06.552.802|C14.907.609 C06.552|C14.907 Hepatis, Peliosis Cardiovascular disease|Digestive system disease Pelizaeus-Merzbacher Disease MESH:D020371 DO:DOID:3210|OMIM:169500|OMIM:312080 A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) MESH:D020279|MESH:D040181 C10.228.140.163.100.362.775|C10.228.140.695.625.775|C10.314.400.775|C16.320.322.906|C16.320.565.189.362.775|C18.452.132.100.362.775|C18.452.648.189.362.775 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C16.320.322|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 ADLD|Adult Pelizaeus Merzbacher Disease|Adult Pelizaeus-Merzbacher Disease|Atypical Pelizaeus Merzbacher Disease|Atypical Pelizaeus-Merzbacher Disease|Brain Pelizaeus-Merzbacher Sclerosis|Brain Sclerosis, Pelizaeus-Merzbacher|Classic Pelizaeus Merzbacher Disease|Classic Pelizaeus-Merzbacher Disease|Cockayne Pelizaeus Merzbacher Disease|Cockayne-Pelizaeus-Merzbacher Disease|HLD1|LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT|Leukodystrophy, Hypomyelinating, 1|Pelizaeus Merzbacher Brain Sclerosis|Pelizaeus-Merzbacher Brain Sclerosis|Pelizaeus Merzbacher Disease|Pelizaeus Merzbacher Disease, Adult|Pelizaeus-Merzbacher Disease, Adult|Pelizaeus Merzbacher Disease, Atypical|Pelizaeus-Merzbacher Disease, Atypical|PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE, FORMERLY|Pelizaeus Merzbacher Disease, Classic|Pelizaeus-Merzbacher Disease, Classic|Pelizaeus Merzbacher Disease, Transitional|Pelizaeus-Merzbacher Disease, Transitional|Pelizaeus Merzbacher Sclerosis, Brain|Pelizaeus-Merzbacher Sclerosis, Brain|PMD|Transitional Pelizaeus Merzbacher Disease|Transitional Pelizaeus-Merzbacher Disease Genetic disease (inborn)|Metabolic disease|Nervous system disease Pelizaeus-Merzbacher like brain sclerosis MESH:C536318 MESH:D002549 C10.114.375.112/C536318|C10.228.140.400/C536318|C10.228.140.695.562.112/C536318|C10.314.350.112/C536318|C20.111.258.250.175/C536318 C10.114.375.112|C10.228.140.400|C10.228.140.695.562.112|C10.314.350.112|C20.111.258.250.175 Cerebral sclerosis similar to Pelizaeus-Merzbacher disease Immune system disease|Nervous system disease Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 MESH:C536319 MESH:D002549 C10.114.375.112/C536319|C10.228.140.400/C536319|C10.228.140.695.562.112/C536319|C10.314.350.112/C536319|C20.111.258.250.175/C536319 C10.114.375.112|C10.228.140.400|C10.228.140.695.562.112|C10.314.350.112|C20.111.258.250.175 Leukodystrophy, Hypomyelinating, 3|Perinatal Sudanophilic leukodystrophy Immune system disease|Nervous system disease Pellagra MESH:D010383 DO:DOID:8457 A disease due to deficiency of NIACIN, a B-complex vitamin, or its precursor TRYPTOPHAN. It is characterized by scaly DERMATITIS which is often associated with DIARRHEA and DEMENTIA (the three D's). MESH:D014804 C18.654.521.500.133.699.529 C18.654.521.500.133.699 Pellagras Nutrition disorder Pellagra like syndrome MESH:C538352 MESH:D010383 C18.654.521.500.133.699.529/C538352 C18.654.521.500.133.699.529 Pellagra-like rash with neurologic manifestations|Pellagra-Like Syndrome Nutrition disorder Pelvic dysplasia arthrogryposis of lower limbs MESH:C535548 MESH:D001176 C05.550.150/C535548|C05.651.102/C535548|C05.660.077/C535548|C16.131.621.077/C535548 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Pelvic hypoplasia with arthrogryposis of lower limbs|Pelvic hypoplasia with lower limb arthrogryposis|Pelvic Hypoplasia with Lower-Limb Arthrogryposis Congenital abnormality|Musculoskeletal disease Pelvic Floor Disorders MESH:D059952 Injury, weakening, or PROLAPSE of the pelvic muscles, surrounding connective tissues or ligaments (PELVIC FLOOR). MESH:D000091642|MESH:D011248|MESH:D052776|MESH:D052801 C12.050.351.625|C12.050.703.565|C12.200.483|C12.400 C12|C12.050.351|C12.050.703|C12.200 Disease, Pelvic Floor|Diseases, Pelvic Floor|Disorder, Pelvic Floor|Disorders, Pelvic Floor|Pelvic Floor Disease|Pelvic Floor Diseases|Pelvic Floor Disorder Pregnancy complication|Urogenital disease (female)|Urogenital disease (male) Pelvic Girdle Pain MESH:D059388 Discomfort associated with the bones that make up the pelvic girdle. It occurs frequently during pregnancy. MESH:D017699|MESH:D059352 C23.888.592.612.547.500|C23.888.592.612.944.625 C23.888.592.612.547|C23.888.592.612.944 Dysfunctions, Symphysis Pubis|Dysfunction, Symphysis Pubis|Girdle Pain, Pelvic|Girdle Pains, Pelvic|Pain, Pelvic Girdle|Pains, Pelvic Girdle|Pelvic Girdle Pains|Pubis Dysfunctions, Symphysis|Pubis Dysfunction, Symphysis|Symphysis Pubis Dysfunction|Symphysis Pubis Dysfunctions Signs and symptoms Pelvic Infection MESH:D034161 Infection involving the tissues or organs in the PELVIS. MESH:D007239 C01.635 C01 Infection, Pelvic|Infections, Pelvic|Pelvic Infections Pelvic Inflammatory Disease MESH:D000292 DO:DOID:1003 A spectrum of inflammation involving the female upper genital tract and the supporting tissues. It is usually caused by an ascending infection of organisms from the endocervix. Infection may be confined to the uterus (ENDOMETRITIS), the FALLOPIAN TUBES; (SALPINGITIS); the ovaries (OOPHORITIS), the supporting ligaments (PARAMETRITIS), or may involve several of the above uterine appendages. Such inflammation can lead to functional impairment and infertility. MESH:D000291|MESH:D034161 C01.635.500|C12.050.351.500.056.750|C12.100.250.056.750 C01.635|C12.050.351.500.056|C12.100.250.056 Adnexitis|Disease, Inflammatory Pelvic|Disease, Pelvic Inflammatory|Diseases, Inflammatory Pelvic|Diseases, Pelvic Inflammatory|Inflammatory Disease, Pelvic|Inflammatory Diseases, Pelvic|Inflammatory Pelvic Disease|Inflammatory Pelvic Diseases|Pelvic Disease, Inflammatory|Pelvic Diseases, Inflammatory|Pelvic Inflammatory Diseases Urogenital disease (female) Pelvic lipomatosis MESH:C535549 DO:DOID:3927 MESH:D001745|MESH:D008068 C12.050.351.968.829/C535549|C12.200.777.829/C535549|C12.950.829/C535549|C17.800.463/C535549|C18.452.584.718/C535549 C12.050.351.968.829|C12.200.777.829|C12.950.829|C17.800.463|C18.452.584.718 Metabolic disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) Pelvic Lipomatosis with Crossed Renal Ectopia MESH:C566812 MESH:D008068 C17.800.463/C566812|C18.452.584.718/C566812 C17.800.463|C18.452.584.718 Metabolic disease|Skin disease Pelvic Neoplasms MESH:D010386 Tumors or cancer of the pelvic region. MESH:D009371 C04.588.699 C04.588 Cancer of Pelvis|Cancer of the Pelvis|Cancer, Pelvic|Cancer, Pelvis|Cancers, Pelvic|Cancers, Pelvis|Neoplasm, Pelvic|Neoplasm, Pelvis|Neoplasms of Pelvis|Neoplasms, Pelvic|Neoplasms, Pelvis|Pelvic Cancer|Pelvic Cancers|Pelvic Neoplasm|Pelvis Cancer|Pelvis Cancers|Pelvis Neoplasm|Pelvis Neoplasms Cancer Pelvic Organ Prolapse MESH:D056887 OMIM:176780|OMIM:613088 Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, DYSPAREUNIA; URINARY STRESS INCONTINENCE; and FECAL INCONTINENCE. MESH:D011391 C23.300.842.624 C23.300.842 Organ Prolapse, Pelvic|Organ Prolapses, Pelvic|Pelvic Organ Prolapses|PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO|PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2|PROLAPSE OF VAGINA AND RECTUM|Prolapse, Pelvic Organ|Prolapses, Pelvic Organ|Prolapses, Urogenital|Prolapses, Vaginal Vault|Prolapse, Urogenital|Prolapse, Vaginal Vault|PVOP1, INCLUDED|PVOP2|RECTAL PROLAPSE|Urogenital Prolapse|Urogenital Prolapses|VAGINAL PROLAPSE PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 1, INCLUDED|Vaginal Vault Prolapse|Vaginal Vault Prolapses|Vault Prolapses, Vaginal|Vault Prolapse, Vaginal Pathology (anatomical condition) Pelvic Pain MESH:D017699 Pain in the pelvic region of genital and non-genital origin. MESH:D010146 C23.888.592.612.944 C23.888.592.612 Pain, Pelvic|Pains, Pelvic|Pelvic Pains Signs and symptoms Pelviscapular dysplasia MESH:C535550 MESH:D004413 C05.116.099.370/C535550 C05.116.099.370 Cousin Syndrome|Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature|Pelvic shoulder dysplasia Musculoskeletal disease Pelvis-Shoulder Dysplasia MESH:C566811 MESH:D000015|MESH:D010009 C05.116.099.708/C566811|C16.131.077/C566811|C16.320.728/C566811 C05.116.099.708|C16.131.077|C16.320.728 Kosenow Syndrome|Scapuloiliac Dysostosis Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Pemphigoid, Benign Mucous Membrane MESH:D010390 DO:DOID:11656 A chronic blistering disease with predilection for mucous membranes and less frequently the skin, and with a tendency to scarring. It is sometimes called ocular pemphigoid because of conjunctival mucous membrane involvement. MESH:D003229|MESH:D012872 C11.187.482|C17.800.865.670 C11.187|C17.800.865 Benign Mucosal Pemphigoid|Benign Mucosal Pemphigoids|Benign Mucous Membrane Pemphigoid|Cicatricial Pemphigoid|Cicatricial Pemphigoid, Ocular|Cicatricial Pemphigoids, Ocular|Mucosal Pemphigoid, Benign|Mucosal Pemphigoids, Benign|Mucous Membrane Pemphigoid, Benign|Ocular Cicatricial Pemphigoid|Ocular Cicatricial Pemphigoids|Pemphigoid, Benign Mucosal|Pemphigoid, Cicatricial|Pemphigoid, Ocular Cicatricial|Pemphigoids, Benign Mucosal|Pemphigoids, Ocular Cicatricial Eye disease|Skin disease Pemphigoid, Bullous MESH:D010391 DO:DOID:8506 A chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis. MESH:D001327|MESH:D012872 C17.800.865.690|C20.111.730 C17.800.865|C20.111 Bullous Pemphigoid|Pemphigoid|Pemphigoids Immune system disease|Skin disease Pemphigoid Gestationis MESH:D006559 DO:DOID:14482 An itching, autoimmune, bullous SKIN disease that occurs during the last two trimesters of PREGNANCY and PUERPERIUM. It also affects non-pregnant females with tissue of PLACENTA origin, such as CHORIOCARCINOMA; or HYDATIDIFORM MOLE. It exhibits antigenic and clinical similarity to bullous pemphigoid (PEMPHIGOID, BULLOUS). This disease does not involve herpes viruses (old name, herpes gestationis). MESH:D011248|MESH:D012872 C12.050.703.570|C17.800.865.700 C12.050.703|C17.800.865 Gestational Pemphigoid|Gestational Pemphigoids|Gestationi, Pemphigoid|Gestationis, Pemphigoid|Herpes Gestationis|Pemphigoid, Gestational|Pemphigoid Gestationi|Pemphigoids, Gestational Pregnancy complication|Skin disease Pemphigus MESH:D010392 DO:DOID:0060851|DO:DOID:0080850|DO:DOID:9182 Group of chronic blistering diseases characterized histologically by ACANTHOLYSIS and blister formation within the EPIDERMIS. MESH:D001327|MESH:D012872 C17.800.865.716|C20.111.736 C17.800.865|C20.111 Foliaceus, Pemphigus|Pemphigus Foliaceus|Pemphigus Vulgaris Immune system disease|Skin disease Pemphigus and fogo selvagem MESH:C535551 MESH:D010392 C17.800.865.716/C535551|C20.111.736/C535551 C17.800.865.716|C20.111.736 Brazilian pemphigus|Brazilian pemphigus foliaceus|Endemic pemphigus foliaceus|South American pemphigus Immune system disease|Skin disease Pemphigus, Benign Familial MESH:D016506 DO:DOID:0050429|OMIM:169600 An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease. MESH:D012872|MESH:D012873 C16.320.850.700|C17.800.827.700|C17.800.865.858 C16.320.850|C17.800.827|C17.800.865 BCPM|Benign Chronic Pemphigus|Benign Familial Pemphigus|Chronic Benign Familial Pemphigus|Familial Benign Chronic Pemphigus|Familial Pemphigus, Benign|Hailey Hailey Disease|Hailey-Hailey Disease|HHD|PEMPHIGUS, BENIGN FAMILIAL Genetic disease (inborn)|Skin disease Pemphigus vulgaris, familial MESH:C536645 OMIM:169610 MESH:D010392 C17.800.865.716/C536645|C20.111.736/C536645 C17.800.865.716|C20.111.736 Familial pemphigus vulgaris Immune system disease|Skin disease Pena Shokeir syndrome, type 1 MESH:C536647 DO:DOID:0111375|OMIM:208150 MESH:D001176 C05.550.150/C536647|C05.651.102/C536647|C05.660.077/C536647|C16.131.621.077/C536647 C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Arthrogryposis multiplex congenita pulmonary hypoplasia|Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings|Arthrogryposis multiplex congenita with pulmonary hypoplasia|FADS|FADS1|Fetal akinesia deformation sequence|FETAL AKINESIA DEFORMATION SEQUENCE 1|Fetal akinesia sequence|Lethal Pena-Shokeir 1 syndrome|Pena-Shokeir Syndrome, Type I Congenital abnormality|Musculoskeletal disease Pena Shokeir syndrome Type 2 MESH:C536646 MESH:D005124 C11.250/C536646|C16.131.384/C536646 C11.250|C16.131.384 Pena-Shokeir syndrome type 2 Congenital abnormality|Eye disease Pendred syndrome MESH:C536648 DO:DOID:0060744|OMIM:274600 MESH:D006044|MESH:D006319 C09.218.458.341.887/C536648|C10.597.751.418.341.887/C536648|C19.874.283.501/C536648|C23.888.592.763.393.341.887/C536648 C09.218.458.341.887|C10.597.751.418.341.887|C19.874.283.501|C23.888.592.763.393.341.887 Autosomal Recessive Sensorineural Hearing Impairment and Goiter|Deafness with goiter|Goiter-deafness syndrome|Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2B|PDS|Pendred's Syndrome|TDH2B|Thyroid Dyshormonogenesis 2B|Thyroid Hormonogenesis, Genetic Defect In, 2B Ear-nose-throat disease|Endocrine system disease|Nervous system disease|Signs and symptoms Penetrating Atherosclerotic Ulcer MESH:D000094667 Ulceration of the AORTA by an ATHEROSCLEROTIC PLAQUE by penetrating through and disrupting the internal elastic lamina of the TUNICA INTIMA. MESH:D000094683|MESH:D001161|MESH:D014652 C14.907.109.070.750|C14.907.137.126.834|C14.907.613 C14.907|C14.907.109.070|C14.907.137.126 Aortic Penetrating Ulcer|Aortic Penetrating Ulcers|Aortic Ulcer, Penetrating|Atherosclerotic Ulcer, Penetrating|Penetrating Aortic Ulcer|Penetrating Aortic Ulcers|Penetrating Atherosclerotic Ulcers|Penetrating Ulcer|Penetrating Ulcer Aorta|Penetrating Ulcer Aortas|Penetrating Ulcer, Aortic|Penetrating Ulcers|Ulcer, Aortic Penetrating|Ulcer, Penetrating|Ulcer, Penetrating Aortic|Ulcer, Penetrating Atherosclerotic Cardiovascular disease Penile Diseases MESH:D010409 Pathological processes involving the PENIS or its component tissues. MESH:D005832 C12.100.500.494|C12.200.294.494 C12.100.500|C12.200.294 Disease, Penile|Disease, Penis|Diseases, Penile|Diseases, Penis|Penile Disease|Penis Disease|Penis Diseases Urogenital disease (male) Penile Induration MESH:D010411 DO:DOID:8616 A condition characterized by hardening of the PENIS due to the formation of fibrous plaques on the dorsolateral aspect of the PENIS, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both. MESH:D003240|MESH:D010409 C12.100.500.494.508|C12.200.294.494.508|C17.300.715 C12.100.500.494|C12.200.294.494|C17.300 Cavernitides, Fibrous|Cavernitis, Fibrous|Fibromatosis, Penile|Fibrous Cavernitides|Fibrous Cavernitis|Penile Fibromatosis|Peyronie Disease|Peyronie's Disease|Peyronies Disease|Plastic Induration of the Penis Connective tissue disease|Urogenital disease (male) Penile Neoplasms MESH:D010412 DO:DOID:11615|DO:DOID:11624 Cancers or tumors of the PENIS or of its component tissues. MESH:D005834|MESH:D010409 C04.588.945.440.715|C12.100.500.260.500|C12.100.500.494.591|C12.200.294.260.500|C12.200.294.494.591|C12.200.758.409.500|C12.900.619.500 C04.588.945.440|C12.100.500.260|C12.100.500.494|C12.200.294.260|C12.200.294.494|C12.200.758.409|C12.900.619 Cancer of Penis|Cancer of the Penis|Cancer, Penile|Cancer, Penis|Cancers, Penile|Cancers, Penis|Neoplasm, Penile|Neoplasm, Penis|Neoplasms, Penile|Neoplasms, Penis|Penile Cancer|Penile Cancers|Penile Neoplasm|Penis Cancer|Penis Cancers|Penis Neoplasm|Penis Neoplasms Cancer|Urogenital disease (male) Penis agenesis MESH:C536649 MESH:D005832 C12.100.500/C536649|C12.200.294/C536649 C12.100.500|C12.200.294 Agenesis of the penis|Micropenis|Penis agenesia Urogenital disease (male) Penoscrotal transposition MESH:C536650 MESH:D000015|MESH:D014522 C12.050.351.968.767/C536650|C12.200.777.767/C536650|C12.950.767/C536650|C16.131.077/C536650 C12.050.351.968.767|C12.200.777.767|C12.950.767|C16.131.077 Congenital transposition of the penis|Prepenile scrotum Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Pentalogy of Cantrell MESH:D058502 OMIM:313850 Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome. MESH:D000015|MESH:D009436 C10.500.680.705|C16.131.077.696|C16.131.666.680.705 C10.500.680|C16.131.077|C16.131.666.680 Cantrell Haller Ravitch syndrome|Cantrell Pentalogy|Cantrell's Pentalogy|Cantrells Pentalogy|Pentalogy, Cantrell|Pentalogy, Cantrell's|PENTALOGY OF CANTRELL, INCLUDED|TAS MIDLINE DEFECTS, X-LINKED, INCLUDED|THAS|Thoracoabdominal Syndrome|Thoracoabdominal Syndromes Congenital abnormality|Nervous system disease Pentosuria MESH:C536652 DO:DOID:0111258|OMIM:260800 MESH:D002239 C16.320.565.202/C536652|C18.452.648.202/C536652 C16.320.565.202|C18.452.648.202 L-Xylulose reductase deficiency|L-Xylulosuria|PNTSU|Xylitol dehydrogenase deficiency Genetic disease (inborn)|Metabolic disease Penttinen-Aula syndrome MESH:C536653 OMIM:601812 MESH:D011371|MESH:D017880|MESH:D030981 C05.116.099.052/C536653|C05.116.264.579.052/C536653|C05.660.585/C536653|C16.131.621.585/C536653|C16.320.488.875/C536653|C16.320.565.753/C536653|C18.452.648.753/C536653 C05.116.099.052|C05.116.264.579.052|C05.660.585|C16.131.621.585|C16.320.488.875|C16.320.565.753|C18.452.648.753 PENTT|PENTTINEN SYNDROME|Premature aging syndrome Penttinen type|Premature Aging Syndrome, Penttinen Type Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Peptic Ulcer MESH:D010437 DO:DOID:750 Ulcer that occurs in the regions of the GASTROINTESTINAL TRACT which come into contact with GASTRIC JUICE containing PEPSIN and GASTRIC ACID. It occurs when there are defects in the MUCOSA barrier. The common forms of peptic ulcers are associated with HELICOBACTER PYLORI and the consumption of nonsteroidal anti-inflammatory drugs (NSAIDS). MESH:D004378|MESH:D013272 C06.405.469.275.800|C06.405.748.586 C06.405.469.275|C06.405.748 Gastroduodenal Ulcer|Gastroduodenal Ulcers|Marginal Ulcer|Marginal Ulcers|Peptic Ulcers|Ulcer, Gastroduodenal|Ulcer, Marginal|Ulcer, Peptic|Ulcers, Gastroduodenal|Ulcers, Marginal|Ulcers, Peptic Digestive system disease Peptic Ulcer Hemorrhage MESH:D010438 Bleeding from a PEPTIC ULCER that can be located in any segment of the GASTROINTESTINAL TRACT. MESH:D006471 C06.405.227.700|C23.550.414.788.700 C06.405.227|C23.550.414.788 Hemorrhage, Peptic Ulcer|Peptic Ulcer Hemorrhages|Ulcer Hemorrhage, Peptic Digestive system disease|Pathology (process) Peptic Ulcer Perforation MESH:D010439 DO:DOID:752 Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY. MESH:D010437 C06.405.469.275.800.698|C06.405.748.586.698 C06.405.469.275.800|C06.405.748.586 Peptic Ulcer Perforations|Perforation, Peptic Ulcer|Perforations, Peptic Ulcer|Ulcer Perforation, Peptic|Ulcer Perforations, Peptic Digestive system disease Perceptual Disorders MESH:D010468 Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. MESH:D019954 C10.597.606.762|C23.888.592.604.764 C10.597.606|C23.888.592.604 Discrimination Disorder, Somatosensory|Discrimination Disorders, Somatosensory|Hemisensory Neglect|Hemisensory Neglects|Hemispatial Neglect|Hemispatial Neglects|Neglect, Hemisensory|Neglect, Hemispatial|Neglect, Sensory|Neglects, Hemisensory|Perceptual Disorder|Sensory Neglect|Sensory Neglects|Somatosensory Discrimination Disorder|Somatosensory Discrimination Disorders Nervous system disease|Signs and symptoms Periapical Abscess MESH:D010482 DO:DOID:2562 Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed) MESH:D000038|MESH:D010485 C01.830.025.650|C07.320.830.700.700|C07.465.714.306.700.700|C07.465.714.533.487.700 C01.830.025|C07.320.830.700|C07.465.714.306.700|C07.465.714.533.487 Abscess, Apical Alveolar|Abscess, Apical Dentoalveolar|Abscesses, Apical Alveolar|Abscesses, Apical Dentoalveolar|Abscesses, Periapical|Abscess, Periapical|Alveolar Abscess, Apical|Alveolar Abscesses, Apical|Apical Alveolar Abscess|Apical Alveolar Abscesses|Apical Dentoalveolar Abscess|Apical Dentoalveolar Abscesses|Dentoalveolar Abscess, Apical|Dentoalveolar Abscesses, Apical|Periapical Abscesses|Periapical Periodontitides, Suppurative|Periapical Periodontitis, Suppurative|Periodontitides, Suppurative Periapical|Periodontitis, Apical, Suppurative|Periodontitis, Suppurative Periapical|Suppurative Periapical Periodontitides|Suppurative Periapical Periodontitis Mouth disease Periapical Diseases MESH:D010483 Diseases of the PERIAPICAL TISSUE surrounding the root of the tooth, which is distinguished from DENTAL PULP DISEASES inside the TOOTH ROOT. MESH:D007571|MESH:D010510 C07.320.830|C07.465.714.306 C07.320|C07.465.714 Disease, Periapical|Diseases, Periapical|Periapical Disease Mouth disease Periapical Granuloma MESH:D010484 DO:DOID:4617 Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment. MESH:D010485 C07.320.830.700.740|C07.465.714.306.700.740|C07.465.714.533.487.740 C07.320.830.700|C07.465.714.306.700|C07.465.714.533.487 Dental Granuloma|Dental Granulomas|Granuloma, Dental|Granuloma, Periapical|Granulomas, Dental|Granulomas, Periapical|Periapical Granulomas|Periapical Periodontitis, Chronic Nonsuppurative|Periodontitis, Apical, Chronic Nonsuppurative Mouth disease Periapical Periodontitis MESH:D010485 DO:DOID:823 Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS. MESH:D010483|MESH:D010518 C07.320.830.700|C07.465.714.306.700|C07.465.714.533.487 C07.320.830|C07.465.714.306|C07.465.714.533 Acute Nonsuppurative Periodontitides|Acute Nonsuppurative Periodontitis|Apical Periodontitides|Apical Periodontitis|Nonsuppurative Periodontitides, Acute|Nonsuppurative Periodontitis, Acute|Periapical Periodontitides|Periodontitides, Acute Nonsuppurative|Periodontitides, Apical|Periodontitides, Periapical|Periodontitis, Acute Nonsuppurative|Periodontitis, Apical|Periodontitis, Periapical Mouth disease Periarthritis MESH:D010489 DO:DOID:2964 Inflammation of the tissues around a joint. (Dorland, 27th ed) MESH:D001168|MESH:D002062 C05.550.114.678|C05.550.251.595 C05.550.114|C05.550.251 Periarthritides Musculoskeletal disease Pericardial constriction with growth failure MESH:C538604 MESH:D050336 C05.116.099.343.796/C538604|C16.320.240.875/C538604 C05.116.099.343.796|C16.320.240.875 Pericardial Constriction And Growth Failure Genetic disease (inborn)|Musculoskeletal disease Pericardial Effusion MESH:D010490 DO:DOID:11482|DO:DOID:118 Fluid accumulation within the PERICARDIUM. Serous effusions are associated with pericardial diseases. Hemopericardium is associated with trauma. Lipid-containing effusion (chylopericardium) results from leakage of THORACIC DUCT. Severe cases can lead to CARDIAC TAMPONADE. MESH:D006331 C14.280.695 C14.280 Chylopericardium|Chylopericardiums|Effusion, Pericardial|Effusions, Pericardial|Hemopericardium|Pericardial Effusions Cardiovascular disease Pericardial Effusion, Chronic MESH:C564895 MESH:D010490|MESH:D010493 C14.280.695/C564895|C14.280.720/C564895 C14.280.695|C14.280.720 Cholesterol Pericarditis Cardiovascular disease Pericarditis MESH:D010493 DO:DOID:1787 Inflammation of the PERICARDIUM from various origins, such as infection, neoplasm, autoimmune process, injuries, or drug-induced. Pericarditis usually leads to PERICARDIAL EFFUSION, or CONSTRICTIVE PERICARDITIS. MESH:D006331 C14.280.720 C14.280 Pleuropericarditis Cardiovascular disease Pericarditis, Constrictive MESH:D010494 DO:DOID:11481 Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS. MESH:D010493 C14.280.720.595 C14.280.720 Constrictive Pericarditides|Constrictive Pericarditis|Heart Pick's Disease|Pericarditides, Constrictive|Pick Disease, Heart|Pick Disease of Heart|Picks Disease, Heart|Pick's Disease of Heart Cardiovascular disease Pericarditis, Tuberculous MESH:D010495 DO:DOID:4962 INFLAMMATION of the sac surrounding the heart (PERICARDIUM) due to MYCOBACTERIUM TUBERCULOSIS infection. Pericarditis can lead to swelling (PERICARDIAL EFFUSION), compression of the heart (CARDIAC TAMPONADE), and preventing normal beating of the heart. MESH:D010493|MESH:D014381 C01.150.252.410.040.552.846.617.150.595|C01.190.750.595|C14.260.750.595|C14.280.720.801 C01.150.252.410.040.552.846.617.150|C01.190.750|C14.260.750|C14.280.720 Pericarditides, Tuberculous|Tuberculous Pericarditides|Tuberculous Pericarditis Bacterial infection or mycosis|Cardiovascular disease Pericoronitis MESH:D010497 DO:DOID:3671 Inflammation of the gingiva surrounding the crown of a tooth. MESH:D005882 C07.465.714.258.771 C07.465.714.258 Pericoronitides Mouth disease Perifolliculitis Capitis Abscedens Et Suffodiens, Familial MESH:C562486 MESH:D002481|MESH:D012536|MESH:D012873 C01.800.130/C562486|C01.830.200/C562486|C16.320.850/C562486|C17.300.185/C562486|C17.800.738/C562486|C17.800.827/C562486|C23.550.470.756.200/C562486 C01.800.130|C01.830.200|C16.320.850|C17.300.185|C17.800.738|C17.800.827|C23.550.470.756.200 Dissecting Cellulitis of the Scalp Connective tissue disease|Genetic disease (inborn)|Pathology (process)|Skin disease Peri-Implantitis MESH:D057873 An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS. MESH:D010510 C07.465.714.282 C07.465.714 Periimplantitides|Peri-Implantitides|Periimplantitis|Peri Implantitis Mouth disease Perimeningeal Infections MESH:D020819 Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord. MESH:D002494 C01.207.709|C10.228.228.709 C01.207|C10.228.228 Infection, Parameningeal|Infection, Perimeningeal|Infections, Parameningeal|Infections, Perimeningeal|Parameningeal Infection|Parameningeal Infections|Perimeningeal Infection Nervous system disease Perinatal Death MESH:D066087 The death of a FETUS of GESTATIONAL AGE 28 weeks or more, or the death of a live-born INFANT less than 28 days of age. MESH:D003643|MESH:D011248 C12.050.703.572|C23.550.260.865 C12.050.703|C23.550.260 Death, Neonatal|Death, Perinatal|Deaths, Neonatal|Deaths, Perinatal|Neonatal Death|Neonatal Deaths|Perinatal Deaths Pathology (process)|Pregnancy complication Perinephritis MESH:D010501 DO:DOID:2982 Inflammation of the connective and adipose tissues surrounding the KIDNEY. MESH:D007674 C12.050.351.968.419.685|C12.200.777.419.685|C12.950.419.685 C12.050.351.968.419|C12.200.777.419|C12.950.419 Inflammation, Perinephrium|Inflammations, Perinephrium|Perinephritides|Perinephrium Inflammation Urogenital disease (female)|Urogenital disease (male) Periodic fever, familial, autosomal dominant MESH:C536657 OMIM:142680 MESH:D005334|MESH:D056660 C16.320.382/C536657|C17.800.827.368/C536657|C23.888.119.344/C536657 C16.320.382|C17.800.827.368|C23.888.119.344 Autosomal Dominant Familial Periodic Fever|Familial Hibernian fever|FHF|FPF|Hibernian Familial Fever|Hibernian fever, familial|TNF receptor-associated periodic syndrome|TNF Receptor-associated Periodic Syndrome (TRAPS)|TRAPS|Tumor necrosis factor receptor-associated periodic syndrome Genetic disease (inborn)|Signs and symptoms|Skin disease PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT OMIM:614674 DO:DOID:9620 MESH:D005334 C23.888.119.344/614674 C23.888.119.344 Signs and symptoms Periodontal Abscess MESH:D010508 Localized circumscribed purulent area of inflammation in the periodontal tissue. It is a derivative of marginal periodontitis and commonly associated with suprabony and infrabony pockets and interradicular involvements, in contrast to periapical abscess which is attributable to pulp necrosis. MESH:D000038|MESH:D010518 C01.830.025.665|C07.465.714.533.650 C01.830.025|C07.465.714.533 Abscesses, Periodontal|Abscess, Periodontal|Periodontal Abscesses Mouth disease Periodontal Atrophy MESH:D055093 Degradation or wasting of the PERIODONTIUM tissues that may involve the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, or the PERIODONTAL LIGAMENT. MESH:D010510 C07.465.714.354 C07.465.714 Atrophy of Periodontium|Gingivo-Osseous Atrophies|Gingivo Osseous Atrophy|Gingivo-Osseous Atrophy|Periodontal Atrophies|Periodontium Atrophies|Periodontium Atrophy Mouth disease Periodontal Attachment Loss MESH:D017622 Loss or destruction of periodontal tissue caused by periodontitis or other destructive periodontal diseases or by injury during instrumentation. Attachment refers to the periodontal ligament which attaches to the alveolar bone. It has been hypothesized that treatment of the underlying periodontal disease and the seeding of periodontal ligament cells enable the creating of new attachment. MESH:D055093 C07.465.714.354.750 C07.465.714.354 Attachment Loss, Periodontal|Loss, Periodontal Attachment Mouth disease Periodontal Cyst MESH:D010509 An epithelium-lined sac containing fluid; usually found at the apex of a pulp-involved tooth. The lateral type occurs less frequently along the side of the root. MESH:D009807|MESH:D010510 C04.182.089.530.690.790|C05.500.470.690.790|C07.320.450.670.513|C07.465.714.470 C04.182.089.530.690|C05.500.470.690|C07.320.450.670|C07.465.714 Cyst, Dental Root|Cyst, Dentoalveolar|Cyst, Lateral|Cyst, Periodontal|Cysts, Dental Root|Cysts, Dentoalveolar|Cysts, Lateral|Cysts, Periodontal|Dental Root Cyst|Dental Root Cysts|Dentoalveolar Cyst|Dentoalveolar Cysts|Lateral Cyst|Lateral Cysts|Periodontal Cysts|Root Cyst, Dental|Root Cysts, Dental Cancer|Mouth disease|Musculoskeletal disease Periodontal Diseases MESH:D010510 DO:DOID:3388 Pathological processes involving the PERIODONTIUM including the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, and the PERIODONTAL LIGAMENT. MESH:D009059 C07.465.714 C07.465 Disease, Periodontal|Diseases, Periodontal|Parodontoses|Parodontosis|Periodontal Disease|Pyorrhea Alveolaris Mouth disease Periodontal Pocket MESH:D010514 An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption. MESH:D010518 C07.465.714.533.750 C07.465.714.533 Periodontal Pockets|Pocket, Periodontal|Pockets, Periodontal Mouth disease Periodontitis MESH:D010518 DO:DOID:824 Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology) MESH:D010510 C07.465.714.533 C07.465.714 Pericementitides|Pericementitis|Periodontitides Mouth disease Periodontitis, Aggressive, 2 MESH:C566946 OMIM:608526 MESH:D010518 C07.465.714.533/C566946 C07.465.714.533 Mouth disease Periostitis MESH:D010522 DO:DOID:9957 Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed) MESH:D001850 C01.160.595|C05.116.165.595 C01.160|C05.116.165 Periostitides Musculoskeletal disease Peripapillary Atrophy, Beta Type MESH:C566898 MESH:D015785 C11.270/C566898|C16.320.290/C566898 C11.270|C16.320.290 Beta-PPA|Peripapillary Chorioretinal Atrophy, Beta Type Eye disease|Genetic disease (inborn) Peripheral Arterial Disease MESH:D058729 DO:DOID:0050830 Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less. MESH:D016491|MESH:D050197 C14.907.137.126.307.500|C14.907.617.671 C14.907.137.126.307|C14.907.617 Arterial Disease, Peripheral|Arterial Diseases, Peripheral|Artery Disease, Peripheral|Artery Diseases, Peripheral|Disease, Peripheral Arterial|Disease, Peripheral Artery|Diseases, Peripheral Arterial|Diseases, Peripheral Artery|Peripheral Arterial Diseases|Peripheral Artery Disease|Peripheral Artery Diseases Cardiovascular disease Peripheral Arterial Occlusive Disease 1 MESH:C564658 OMIM:606787 MESH:D001157|MESH:D058729 C14.907.137.126.307.500/C564658|C14.907.137/C564658|C14.907.617.671/C564658 C14.907.137|C14.907.137.126.307.500|C14.907.617.671 PAOD1|Paod1 Peripheral Arterial Occlusive Disease 1|peripheral arterial occlusive disease Cardiovascular disease Peripheral Cone Dystrophy MESH:C563813 MESH:D012174 C11.270.684/C563813|C11.768.585.658.500/C563813|C16.320.290.684/C563813 C11.270.684|C11.768.585.658.500|C16.320.290.684 Eye disease|Genetic disease (inborn) Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease MESH:C563789 OMIM:609136 MESH:D006627|MESH:D011115|MESH:D014849|MESH:D020271 C06.198.439/C563789|C06.405.469.158.701.439/C563789|C10.574.500/C563789|C10.668.829.800/C563789|C16.131.077.938/C563789|C16.131.314.439/C563789|C16.320.400/C563789 C06.198.439|C06.405.469.158.701.439|C10.574.500|C10.668.829.800|C16.131.077.938|C16.131.314.439|C16.320.400 PCWH|Waardenburg-Shah Syndrome, Neurologic Variant Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Nervous system disease Peripheral Nerve Injuries MESH:D059348 Injuries to the PERIPHERAL NERVES. MESH:D010523|MESH:D020196 C10.668.829.712|C10.900.575|C26.915.650 C10.668.829|C10.900|C26.915 Nerve Injuries, Peripheral|Nerve Injury, Peripheral|Peripheral Nerve Injury Nervous system disease|Wounds and injuries Peripheral Nervous System Diseases MESH:D010523 Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves. MESH:D009468 C10.668.829 C10.668 Nerve Disease, Peripheral|Nerve Diseases, Peripheral|Neuropathy, Peripheral|Peripheral Nerve Disease|Peripheral Nerve Diseases|Peripheral Nervous System Disease|Peripheral Nervous System Disorders|Peripheral Neuropathies|Peripheral Neuropathy|PNS Disease|PNS Diseases|PNS (Peripheral Nervous System) Diseases Nervous system disease Peripheral Nervous System Neoplasms MESH:D010524 DO:DOID:1192 Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1) MESH:D009423|MESH:D010523 C04.588.614.596|C10.551.775|C10.668.829.725 C04.588.614|C10.551|C10.668.829 Neoplasm, Peripheral Nerve|Neoplasms, Peripheral Nerve|Nerve Neoplasm, Peripheral|Nerve Neoplasms, Peripheral|Nerve Tumor, Peripheral|Nerve Tumors, Peripheral|Peripheral Nerve Neoplasm|Peripheral Nerve Neoplasms|Peripheral Nerve Neoplasms, Benign|Peripheral Nerve Neoplasms, Malignant|Peripheral Nerve Neoplastic Infiltration|Peripheral Nerve Tumor|Peripheral Nerve Tumors|Peripheral Nervous System Benign Neoplasms|Peripheral Nervous System Malignant Neoplasms|Tumor, Peripheral Nerve|Tumors, Peripheral Nerve Cancer|Nervous system disease Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain MESH:C564894 MESH:D001259|MESH:D010523|MESH:D020271 C10.574.500/C564894|C10.597.350.090/C564894|C10.668.829/C564894|C16.320.400/C564894|C23.888.592.350.090/C564894 C10.574.500|C10.597.350.090|C10.668.829|C16.320.400|C23.888.592.350.090 Genetic disease (inborn)|Nervous system disease|Signs and symptoms PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS OMIM:614369 MESH:D006685|MESH:D009135|MESH:D010523|MESH:D034381 C05.651/614369|C08.360.940.490/614369|C08.618.490/614369|C09.218.458.341/614369|C09.400.940.490/614369|C10.597.751.418.341/614369|C10.597.975.550/614369|C10.668.491/614369|C10.668.829/614369|C23.888.592.763.393.341/614369|C23.888.592.979.550/614369|C23.888.852.490/614369 C05.651|C08.360.940.490|C08.618.490|C09.218.458.341|C09.400.940.490|C10.597.751.418.341|C10.597.975.550|C10.668.491|C10.668.829|C23.888.592.763.393.341|C23.888.592.979.550|C23.888.852.490 PNMHH Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Respiratory tract disease|Signs and symptoms PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY OMIM:616539 DO:DOID:0111490 MESH:D002658|MESH:D010523|MESH:D020233 C10.597.404/616539|C10.668.829/616539|C23.888.592.413/616539|F03.625.421/616539 C10.597.404|C10.668.829|C23.888.592.413|F03.625.421 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26|COXPD26|PNSED Mental disorder|Nervous system disease|Signs and symptoms Peripheral Vascular Diseases MESH:D016491 Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART. MESH:D014652 C14.907.617 C14.907 Angiopathies, Peripheral|Angiopathy, Peripheral|Disease, Peripheral Vascular|Diseases, Peripheral Vascular|Peripheral Angiopathies|Peripheral Angiopathy|Peripheral Vascular Disease|Vascular Disease, Peripheral|Vascular Diseases, Peripheral Cardiovascular disease Periprosthetic Fractures MESH:D057068 Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively. MESH:D050723 C26.404.550 C26.404 Fracture, Peri-Implant|Fracture, Periprosthetic|Fractures, Peri-Implant|Fractures, Periprosthetic|Peri-Implant Fracture|Peri Implant Fractures|Peri-Implant Fractures|Periprosthetic Fracture Wounds and injuries Perisylvian syndrome MESH:C536658 OMIM:300388 MESH:D000015|MESH:D008607|MESH:D054220 C10.500.507/C536658|C10.597.606.360/C536658|C16.131.077/C536658|C16.131.666.507/C536658|C23.888.592.604.646/C536658|F03.625.539/C536658 C10.500.507|C10.597.606.360|C16.131.077|C16.131.666.507|C23.888.592.604.646|F03.625.539 BPP|BPPX|CBPS|Congenital bilateral perisylvian syndrome|Perisylvian syndrome, congenital bilateral|PMGX|Polymicrogyria, bilateral perisylvian|POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms Peritoneal Diseases MESH:D010532 Pathological processes involving the PERITONEUM. MESH:D004066 C06.844 C06 Peritoneal Disease Digestive system disease Peritoneal Fibrosis MESH:D056627 Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency. MESH:D005355|MESH:D010532 C06.844.610|C23.550.355.625 C06.844|C23.550.355 Encapsulating Peritoneal Scleroses|Encapsulating Peritoneal Sclerosis|Fibroses, Peritoneal|Fibrosing Syndrome, Peritoneal|Fibrosing Syndromes, Peritoneal|Fibrosis, Peritoneal|Peritoneal Fibroses|Peritoneal Fibrosing Syndrome|Peritoneal Fibrosing Syndromes|Peritoneal Scleroses|Peritoneal Scleroses, Encapsulating|Peritoneal Sclerosis|Peritoneal Sclerosis, Encapsulating|Scleroses, Encapsulating Peritoneal|Scleroses, Peritoneal|Sclerosis, Encapsulating Peritoneal|Sclerosis, Peritoneal|Syndrome, Peritoneal Fibrosing|Syndromes, Peritoneal Fibrosing Digestive system disease|Pathology (process) Peritoneal Neoplasms MESH:D010534 Tumors or cancer of the PERITONEUM. MESH:D000008|MESH:D004067|MESH:D010532 C04.588.033.513|C04.588.274.780|C06.301.780|C06.844.620 C04.588.033|C04.588.274|C06.301|C06.844 Carcinomatosis, Peritoneal|Malignancy, Peritoneal Surface|Neoplasm, Peritoneal|Peritoneal Carcinomatoses|Peritoneal Carcinomatosis|Peritoneal Neoplasm|Peritoneal Surface Malignancies|Peritoneal Surface Malignancy|Surface Malignancy, Peritoneal Cancer|Digestive system disease Peritoneal retractile mesenteritis MESH:C538596 MESH:D015436 C06.844.600/C538596|C17.300.710.600/C538596 C06.844.600|C17.300.710.600 Connective tissue disease|Digestive system disease Peritonitis MESH:D010538 INFLAMMATION of the PERITONEUM lining the ABDOMINAL CAVITY as the result of infectious, autoimmune, or chemical processes. Primary peritonitis is due to infection of the PERITONEAL CAVITY via hematogenous or lymphatic spread and without intra-abdominal source. Secondary peritonitis arises from the ABDOMINAL CAVITY itself through RUPTURE or ABSCESS of intra-abdominal organs. MESH:D010532|MESH:D059413 C01.463.600|C06.844.640 C01.463|C06.844 Peritonitis, Primary|Peritonitis, Secondary|Primary Peritonitis|Secondary Peritonitis Digestive system disease Peritonitis, Tuberculous MESH:D014395 DO:DOID:9801 A form of PERITONITIS seen in patients with TUBERCULOSIS, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ASCITES, abdominal swelling, ABDOMINAL PAIN, and other systemic symptoms such as FEVER; WEIGHT LOSS; and ANEMIA. MESH:D000092225|MESH:D010538 C01.150.252.410.040.552.846.617.100|C01.463.600.249|C06.844.640.249 C01.150.252.410.040.552.846.617|C01.463.600|C06.844.640 Tuberculosis, Peritoneal Bacterial infection or mycosis|Digestive system disease Peritonsillar Abscess MESH:D000039 An accumulation of purulent material in the area between the PALATINE TONSIL and its capsule. MESH:D000038|MESH:D014069 C01.748.561.750.500|C01.830.025.675|C07.550.781.750.500|C08.730.561.750.500|C09.775.649.750.500 C01.748.561.750|C01.830.025|C07.550.781.750|C08.730.561.750|C09.775.649.750 Abscesses, Peritonsillar|Abscess, Peritonsillar|Peritonsillar Abscesses Ear-nose-throat disease|Mouth disease|Respiratory tract disease Perivascular Epithelioid Cell Neoplasms MESH:D054973 DO:DOID:2643 A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). MESH:D018204 C04.557.450.692 C04.557.450 CCMMT|Clear Cell Myomelanocytic Tumor|Clear-Cell Myomelanocytic Tumor|Clear Cell Myomelanocytic Tumors|Clear-Cell Myomelanocytic Tumors|Clear Cell Sugar Tumor|Clear-Cell Sugar Tumor|Clear Cell Sugar Tumors|Clear-Cell Sugar Tumors|Myomelanocytic Tumor, Clear-Cell|Myomelanocytic Tumors, Clear-Cell|Neoplasms, Perivascular Epithelioid Cell|PEComa|PEComas|Perivascular Epithelioid Cell Neoplasm|Perivascular Epithelioid Cell Tumor|Perivascular Epithelioid Cell Tumors|Sugar Tumor, Clear-Cell|Sugar Tumors, Clear-Cell|Tumor, Clear-Cell Myomelanocytic|Tumor, Clear-Cell Sugar|Tumors, Clear-Cell Myomelanocytic|Tumors, Clear-Cell Sugar Cancer Periventricular Laminar Heterotopia MESH:C548481 MESH:D054091 C10.500.507.450.750/C548481|C16.131.666.507.450.750/C548481 C10.500.507.450.750|C16.131.666.507.450.750 Congenital abnormality|Nervous system disease Periventricular Nodular Heterotopia MESH:D054091 DO:DOID:0050454|OMIM:300049|OMIM:615544|OMIM:617201 A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. MESH:D054081 C10.500.507.450.750|C16.131.666.507.450.750 C10.500.507.450|C16.131.666.507.450 Bilateral Periventricular Nodular Heterotopia|BPNH|Familial Nodular Heterotopia|Familial Nodular Heterotopias|Heterotopia, Familial Nodular|Heterotopia, Periventricular|HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT|Heterotopia, Periventricular Nodular|Heterotopia, Periventricular, X-Linked Dominant|Heterotopia, X-Linked Periventricular|NHBP|Nodular Heterotopia, Bilateral Periventricular|Nodular Heterotopia, Familial|Nodular Heterotopia, Periventricular|Periventricular Heterotopia|Periventricular Heterotopias|Periventricular Heterotopia, X Linked|Periventricular Heterotopia, X-Linked|Periventricular Nodular Heterotopia 1|PERIVENTRICULAR NODULAR HETEROTOPIA 4, FORMERLY;PVNH4, FORMERLY HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA, INCLUDED|PERIVENTRICULAR NODULAR HETEROTOPIA 6|PERIVENTRICULAR NODULAR HETEROTOPIA 7|Periventricular Nodular Heterotopias|PVNH1|PVNH6|PVNH7|X-Linked Periventricular Heterotopia|X-Linked Periventricular Heterotopias Congenital abnormality|Nervous system disease Perniola Krajewska Carnevale syndrome MESH:C536660 MESH:D000505|MESH:D008607|MESH:D012640 C10.597.606.360/C536660|C10.597.742/C536660|C17.800.329.937.122/C536660|C23.300.035/C536660|C23.888.592.604.646/C536660|C23.888.592.742/C536660|F03.625.539/C536660 C10.597.606.360|C10.597.742|C17.800.329.937.122|C23.300.035|C23.888.592.604.646|C23.888.592.742|F03.625.539 Congenital alopecia, psychomotor retardation, convulsions|Neuroectodermosis with alopecia or hypotrichosis Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Peroneal Neuropathies MESH:D020427 DO:DOID:4201|DO:DOID:6925 Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31) MESH:D020422 C10.668.829.500.600 C10.668.829.500 Common Peroneal Nerve Entrapment|Common Peroneal Neuropathies|Common Peroneal Neuropathy|Deep Peroneal Neuropathies|Deep Peroneal Neuropathy|Entrapment, Peroneal Nerve|External Popliteal Neuropathies|External Popliteal Neuropathy|Fibular Nerve Disease|Fibular Nerve Diseases|Fibular Neuropathies|Fibular Neuropathy|Foot Drop|Foot Drops|Lateral Popliteal Neuropathies|Lateral Popliteal Neuropathy|Mononeuropathy, Peroneal|Nerve Disease, Fibular|Nerve Entrapment, Peroneal|Nerve Paralysis, Peroneal|Neuropathies, Fibular|Neuropathy, Common Peroneal|Neuropathy, Deep Peroneal|Neuropathy, External Popliteal|Neuropathy, Fibular|Neuropathy, Lateral Popliteal|Neuropathy, Peroneal|Neuropathy, Superficial Peroneal|Palsy, Peroneal|Paralysis, Peroneal Nerve|Peroneal Mononeuropathies|Peroneal Mononeuropathy|Peroneal Nerve Disease|Peroneal Nerve Diseases|Peroneal Nerve Entrapment|Peroneal Nerve Entrapments|Peroneal Nerve Paralyses|Peroneal Nerve Paralysis|Peroneal Neuropathy|Peroneal Neuropathy, Deep|Peroneal Neuropathy, Superficial|Peroneal Palsies|Peroneal Palsy|Popliteal Neuropathy, External|Popliteal Neuropathy, Lateral|Superficial Peroneal Neuropathies|Superficial Peroneal Neuropathy Nervous system disease Peroxisomal ACYL-COA oxidase deficiency MESH:C536662 DO:DOID:0050797|OMIM:264470 MESH:D000326|MESH:D008052 C10.228.140.163.100.084/C536662|C10.228.140.163.100.362.250/C536662|C10.228.140.695.625.250/C536662|C10.314.400.250/C536662|C10.597.606.360.455.124/C536662|C16.320.322.500.124/C536662|C16.320.400.525.124/C536662|C16.320.565.189.084/C536662|C16.320.565.189.362.250/C536662|C16.320.565.398/C536662|C16.320.565.663.100/C536662|C18.452.132.100.084/C536662|C18.452.132.100.362.250/C536662|C18.452.584.563/C536662|C18.452.648.189.084/C536662|C18.452.648.189.362.250/C536662|C18.452.648.398/C536662|C18.452.648.663.100/C536662|C19.053.500.270/C536662 C10.228.140.163.100.084|C10.228.140.163.100.362.250|C10.228.140.695.625.250|C10.314.400.250|C10.597.606.360.455.124|C16.320.322.500.124|C16.320.400.525.124|C16.320.565.189.084|C16.320.565.189.362.250|C16.320.565.398|C16.320.565.663.100|C18.452.132.100.084|C18.452.132.100.362.250|C18.452.584.563|C18.452.648.189.084|C18.452.648.189.362.250|C18.452.648.398|C18.452.648.663.100|C19.053.500.270 Pseudoneonatal adrenoleukodystrophy|Straight-chain ACYL-COA oxidase deficiency Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Peroxisomal Disorders MESH:D018901 DO:DOID:906 A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. MESH:D008661 C16.320.565.663|C18.452.648.663 C16.320.565|C18.452.648 Acidemia, Hyperpipecolic|Acidemias, Hyperpipecolic|Adrenoleukodystrophies, Neonatal|Adrenoleukodystrophy, Autosomal Neonatal Form|Adrenoleukodystrophy, Autosomal, Neonatal Form|Adrenoleukodystrophy, Neonatal|Dysfunction, General Peroxisomal|Dysfunction, Multiple Peroxisomal|Dysfunctions, General Peroxisomal|Dysfunction, Single Peroxisomal|Dysfunctions, Multiple Peroxisomal|Dysfunctions, Single Peroxisomal|General Peroxisomal Dysfunction|General Peroxisomal Dysfunctions|Hyperpipecolatemia|Hyperpipecolic Acidemia|Hyperpipecolic Acidemias|Multiple Peroxisomal Dysfunction|Multiple Peroxisomal Dysfunctions|Neonatal Adrenoleukodystrophies|Neonatal Adrenoleukodystrophy|Peroxisomal Disorder|Peroxisomal Dysfunction, General|Peroxisomal Dysfunction, Multiple|Peroxisomal Dysfunctions, General|Peroxisomal Dysfunction, Single|Peroxisomal Dysfunctions, Multiple|Peroxisomal Dysfunctions, Single|Single Peroxisomal Dysfunction|Single Peroxisomal Dysfunctions Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) OMIM:614882 DO:DOID:0080484 MESH:D018901 C16.320.565.663/614882|C18.452.648.663/614882 C16.320.565.663|C18.452.648.663 CG12, INCLUDED|CGG, INCLUDED|PBD10A|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 12, INCLUDED|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP G, INCLUDED Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 10B OMIM:617370 MESH:D018901 C16.320.565.663/617370|C18.452.648.663/617370 C16.320.565.663|C18.452.648.663 PBD10B Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) OMIM:614883 DO:DOID:0080485 MESH:D018901 C16.320.565.663/614883|C18.452.648.663/614883 C16.320.565.663|C18.452.648.663 CG13, INCLUDED|CGH, INCLUDED|PBD11A|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 13, INCLUDED|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP H, INCLUDED Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 11B OMIM:614885 MESH:D018901 C16.320.565.663/614885|C18.452.648.663/614885 C16.320.565.663|C18.452.648.663 PBD11B Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) OMIM:614886 DO:DOID:0080486 MESH:D018901 C16.320.565.663/614886|C18.452.648.663/614886 C16.320.565.663|C18.452.648.663 CG14, INCLUDED|CGJ, INCLUDED|PBD12A|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 14, INCLUDED|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP J, INCLUDED Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) OMIM:614887 DO:DOID:0080487 MESH:D018901 C16.320.565.663/614887|C18.452.648.663/614887 C16.320.565.663|C18.452.648.663 CGK, INCLUDED|PBD13A|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP K, INCLUDED Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 14B OMIM:614920 DO:DOID:0081274 MESH:D018901 C16.320.565.663/614920|C18.452.648.663/614920 C16.320.565.663|C18.452.648.663 PEX14B Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) OMIM:214110 DO:DOID:0080477 MESH:D018901 C16.320.565.663/214110|C18.452.648.663/214110 C16.320.565.663|C18.452.648.663 CG2, INCLUDED|PBD2A|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2, INCLUDED Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 2B OMIM:202370 DO:DOID:0080622 MESH:D000326 C10.228.140.163.100.084/202370|C10.228.140.163.100.362.250/202370|C10.228.140.695.625.250/202370|C10.314.400.250/202370|C10.597.606.360.455.124/202370|C16.320.322.500.124/202370|C16.320.400.525.124/202370|C16.320.565.189.084/202370|C16.320.565.189.362.250/202370|C16.320.565.663.100/202370|C18.452.132.100.084/202370|C18.452.132.100.362.250/202370|C18.452.648.189.084/202370|C18.452.648.189.362.250/202370|C18.452.648.663.100/202370|C19.053.500.270/202370 C10.228.140.163.100.084|C10.228.140.163.100.362.250|C10.228.140.695.625.250|C10.314.400.250|C10.597.606.360.455.124|C16.320.322.500.124|C16.320.400.525.124|C16.320.565.189.084|C16.320.565.189.362.250|C16.320.565.663.100|C18.452.132.100.084|C18.452.132.100.362.250|C18.452.648.189.084|C18.452.648.189.362.250|C18.452.648.663.100|C19.053.500.270 PBD2B Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) OMIM:614859 DO:DOID:0080478 MESH:D018901 C16.320.565.663/614859|C18.452.648.663/614859 C16.320.565.663|C18.452.648.663 CG3, INCLUDED|PBD3A|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3, INCLUDED Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) OMIM:614862 DO:DOID:0080479 MESH:D018901 C16.320.565.663/614862|C18.452.648.663/614862 C16.320.565.663|C18.452.648.663 CG4, INCLUDED|CG6, INCLUDED|CGC, INCLUDED|PBD4A|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 4, INCLUDED|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 6, INCLUDED|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP C, INCLUDED Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 4B OMIM:614863 MESH:D018901 C16.320.565.663/614863|C18.452.648.663/614863 C16.320.565.663|C18.452.648.663 PBD4B Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) OMIM:614866 DO:DOID:0080480 MESH:D018901 C16.320.565.663/614866|C18.452.648.663/614866 C16.320.565.663|C18.452.648.663 CG10, INCLUDED|CG5, INCLUDED|CGF, INCLUDED|PBD5A|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10, INCLUDED|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5, INCLUDED|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F, INCLUDED Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 5B OMIM:614867 MESH:D018901 C16.320.565.663/614867|C18.452.648.663/614867 C16.320.565.663|C18.452.648.663 PBD5B Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) OMIM:614870 DO:DOID:0080481 MESH:D018901 C16.320.565.663/614870|C18.452.648.663/614870 C16.320.565.663|C18.452.648.663 CG7, INCLUDED|CGB, INCLUDED|PBD6A|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 7, INCLUDED|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP B, INCLUDED Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 6B OMIM:614871 MESH:D018901 C16.320.565.663/614871|C18.452.648.663/614871 C16.320.565.663|C18.452.648.663 PBD6B Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) OMIM:614872 DO:DOID:0080482 MESH:D018901 C16.320.565.663/614872|C18.452.648.663/614872 C16.320.565.663|C18.452.648.663 CG8, INCLUDED|CGA, INCLUDED|PBD7A|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8, INCLUDED|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A, INCLUDED Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 7B OMIM:614873 MESH:D018901 C16.320.565.663/614873|C18.452.648.663/614873 C16.320.565.663|C18.452.648.663 PBD7B Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) OMIM:614876 DO:DOID:0080483 MESH:D018901 C16.320.565.663/614876|C18.452.648.663/614876 C16.320.565.663|C18.452.648.663 CG9, INCLUDED|CGD, INCLUDED|PBD8A|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 9, INCLUDED|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP D, INCLUDED Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 8B OMIM:614877 MESH:D018901 C16.320.565.663/614877|C18.452.648.663/614877 C16.320.565.663|C18.452.648.663 PBD8B Genetic disease (inborn)|Metabolic disease PEROXISOME BIOGENESIS DISORDER 9B OMIM:614879 MESH:D018901 C16.320.565.663/614879|C18.452.648.663/614879 C16.320.565.663|C18.452.648.663 CG11, INCLUDED|CGR, INCLUDED|PBD9B|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP R, INCLUDED|PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 11, INCLUDED|REFSUM DISEASE, ADULT, 2 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group 1 MESH:C566568 MESH:D018901 C16.320.565.663/C566568|C18.452.648.663/C566568 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group 11 MESH:C566634 MESH:D018901 C16.320.565.663/C566634|C18.452.648.663/C566634 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group 12 MESH:C566405 MESH:D018901 C16.320.565.663/C566405|C18.452.648.663/C566405 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group 13 MESH:C566625 MESH:D018901 C16.320.565.663/C566625|C18.452.648.663/C566625 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group 14 MESH:C563964 MESH:D018901 C16.320.565.663/C563964|C18.452.648.663/C563964 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group 3 MESH:C566633 MESH:D018901 C16.320.565.663/C566633|C18.452.648.663/C566633 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group 4 MESH:C563301 MESH:D018901 C16.320.565.663/C563301|C18.452.648.663/C563301 C16.320.565.663|C18.452.648.663 Peroxisome Biogenesis Disorder, Complementation Group 6|Peroxisome Biogenesis Disorder, Complementation Group C Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group 7 MESH:C566422 MESH:D018901 C16.320.565.663/C566422|C18.452.648.663/C566422 C16.320.565.663|C18.452.648.663 Peroxisome Biogenesis Disorder, Complementation Group B Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group 9 MESH:C566387 MESH:D018901 C16.320.565.663/C566387|C18.452.648.663/C566387 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group D MESH:C566388 MESH:D018901 C16.320.565.663/C566388|C18.452.648.663/C566388 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group E MESH:C566569 MESH:D018901 C16.320.565.663/C566569|C18.452.648.663/C566569 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group G MESH:C566406 MESH:D018901 C16.320.565.663/C566406|C18.452.648.663/C566406 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group H MESH:C566626 MESH:D018901 C16.320.565.663/C566626|C18.452.648.663/C566626 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group J MESH:C563965 MESH:D018901 C16.320.565.663/C563965|C18.452.648.663/C563965 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group K MESH:C566624 MESH:D018901 C16.320.565.663/C566624|C18.452.648.663/C566624 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome Biogenesis Disorder, Complementation Group R MESH:C566635 MESH:D018901 C16.320.565.663/C566635|C18.452.648.663/C566635 C16.320.565.663|C18.452.648.663 Genetic disease (inborn)|Metabolic disease Peroxisome biogenesis disorders MESH:C536664 OMIM:266510 MESH:D018901 C16.320.565.663/C536664|C18.452.648.663/C536664 C16.320.565.663|C18.452.648.663 PBD3B|PEROXISOME BIOGENESIS DISORDER 3B Genetic disease (inborn)|Metabolic disease PERRAULT SYNDROME 3 OMIM:614129 DO:DOID:0050857 MESH:D003638 C09.218.458.341.186/614129|C10.597.751.418.341.186/614129|C23.888.592.763.393.341.186/614129 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 DEAFNESS, AUTOSOMAL RECESSIVE 81, FORMERLY|DFNB81, FORMERLY|PRLTS3 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Perry Syndrome MESH:C566822 DO:DOID:0060486|OMIM:168605 MESH:D007040|MESH:D020734|MESH:D057177 C08.618.846.565/C566822|C10.228.140.079.862/C566822|C10.228.662.600/C566822|C10.574.950/C566822|C18.452.845.800/C566822|C23.888.852.638/C566822 C08.618.846.565|C10.228.140.079.862|C10.228.662.600|C10.574.950|C18.452.845.800|C23.888.852.638 Parkinsonism with Alveolar Hypoventilation and Mental Depression Metabolic disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Persian Gulf Syndrome MESH:D018923 DO:DOID:4491 Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8) MESH:D009784 C24.653 C24 Gulf War Syndrome|Syndrome, Gulf War|Syndrome, Persian Gulf Occupational disease Persistent Fetal Circulation Syndrome MESH:D010547 DO:DOID:13042 A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT). MESH:D006976|MESH:D007232 C08.381.423.694|C16.614.694 C08.381.423|C16.614 ACD MPV|ACD-MPV|ACDMPV|Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins|Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies|Circulation, Persistent Fetal|Familial Persistent Pulmonary Hypertension of the Newborn|Fetal Circulation, Persistent|Hypertension, Pulmonary, of Newborn, Persistent|Misalignment of the Pulmonary Vessels|Persistent Fetal Circulation|Persistent Pulmonary Hypertension of Newborn|Pulmonary Hypertension, Familial Persistent, of the Newborn Infant-newborn disease|Respiratory tract disease Persistent Hyperplastic Primary Vitreous MESH:D054514 DO:DOID:0060282 A developmental ocular anomaly in which the primary VITREOUS BODY and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by CATARACT; MICROPHTHALMOS (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.) MESH:D005124 C11.250.616|C16.131.384.725 C11.250|C16.131.384 Persistent Fetal Vasculature Syndrome|Persistent Hyaloid Arteries|Persistent Hyaloid Artery|Persistent Hyaloid Vasculature|Persistent Hyaloid Vasculatures Congenital abnormality|Eye disease Persistent Hyperplastic Primary Vitreous, Autosomal Recessive MESH:C566966 MESH:D005124|MESH:D015785 C11.250/C566966|C11.270/C566966|C16.131.384/C566966|C16.320.290/C566966 C11.250|C11.270|C16.131.384|C16.320.290 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant Congenital abnormality|Eye disease|Genetic disease (inborn) Persistent Infection MESH:D000088562 Infection which lasts for a long period with continuous display of clinical features. Persistent infection arises due to inability of host cells to clear primary infections completely. When persistent infections are cleared so that infection symptoms are under control they are often referred to as chronic infections. LATENT INFECTIONS are infections in which manifestation of clinical symptoms appear later. MESH:D007239|MESH:D020969 C01.645|C23.550.291.902 C01|C23.550.291 Chronic Infection|Chronic Infections|Infection, Chronic|Infection, Long Term|Infection, Persistent|Long Term Infection|Long Term Infections|Persistent Infections Pathology (process) Persistent Left Superior Vena Cava MESH:D000083402 Finding of the SUPERIOR VENA CAVA on the left instead of the usual right side of the ASCENDING AORTA. In bilateral superior vena cava it is found on both sides. MESH:D054079 C14.240.850.930|C16.131.240.850.902 C14.240.850|C16.131.240.850 Bilateral Superior Caval Veins|Bilateral Superior Vena Cava|Bilateral SVC|Left Sided Superior Vena Cava|Left-Sided Superior Vena Cava|LSVC, Persistent|Persistent LSVC|PLSVC|Superior Vena Caval Duplication|SVC, Bilateral|SVC Duplication|SVC Duplications Cardiovascular disease|Congenital abnormality Persistent Mullerian duct syndrome MESH:C536665 DO:DOID:0050791|OMIM:261550 MESH:D058490 C12.050.351.875.253.096/C536665|C12.200.706.316.096/C536665|C12.800.316.096/C536665|C16.131.939.316.096/C536665|C19.391.119.096/C536665 C12.050.351.875.253.096|C12.200.706.316.096|C12.800.316.096|C16.131.939.316.096|C19.391.119.096 FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE|Hernia uteri inguinale|Persistent Muellerian duct syndrome|Persistent Müllerian Duct Syndrome|Persistent mullerian duct syndrome, types 1 and 2|Persistent Mullerian Duct Syndrome, Types I And II|Persistent oviduct syndrome|PMDS|Pseudohermaphroditism, male internal Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Persistent Polyclonal B-Cell Lymphocytosis MESH:C564707 OMIM:606445 MESH:D008218 C15.378.553.475.604/C564707 C15.378.553.475.604 PPBL Blood disease Persistent Vegetative State MESH:D018458 Vegetative state refers to the neurocognitive status of individuals with severe brain damage, in whom physiologic functions (sleep-wake cycles, autonomic control, and breathing) persist, but awareness (including all cognitive function and emotion) is abolished. MESH:D001925|MESH:D014474 C10.228.140.140.627|C10.597.606.358.800.400|C23.888.592.604.359.800.400 C10.228.140.140|C10.597.606.358.800|C23.888.592.604.359.800 Minimally Conscious State|Minimally Conscious States|Permanent Vegetative State|Permanent Vegetative States|Persistent Unawareness State|Persistent Unawareness States|Persistent Vegetative States|Postcomatose Unawareness State|Post Comatose Unawareness State|Post-Comatose Unawareness State|Postcomatose Unawareness States|Post-Comatose Unawareness States|Post-Traumatic Unawarenesses, Prolonged|Post-Traumatic Unawareness, Prolonged|Posttraumatic Unawareness State|Post Traumatic Unawareness State|Post-Traumatic Unawareness State|Posttraumatic Unawareness States|Post-Traumatic Unawareness States|Post Traumatic Vegetative State|Post-Traumatic Vegetative State|Post-Traumatic Vegetative States|Prolonged Post Traumatic Unawareness|Prolonged Post-Traumatic Unawareness|Prolonged Post-Traumatic Unawarenesses|PVS (Persistent Vegetative State)|PVSs (Persistent Vegetative State)|State, Minimally Conscious|State, Permanent Vegetative|State, Persistent Unawareness|State, Persistent Vegetative|State, Postcomatose Unawareness|State, Post-Comatose Unawareness|State, Posttraumatic Unawareness|State, Post-Traumatic Unawareness|State, Post-Traumatic Vegetative|States, Minimally Conscious|States, Permanent Vegetative|States, Persistent Unawareness|States, Persistent Vegetative|States, Postcomatose Unawareness|States, Post-Comatose Unawareness|States, Posttraumatic Unawareness|States, Post-Traumatic Unawareness|States, Post-Traumatic Vegetative|States, Transient Vegetative|States, Vegetative|State, Transient Vegetative|State, Vegetative|Transient Vegetative State|Transient Vegetative States|Unawarenesses, Prolonged Post-Traumatic|Unawareness, Prolonged Post-Traumatic|Unawareness State, Persistent|Unawareness State, Postcomatose|Unawareness State, Post-Comatose|Unawareness State, Posttraumatic|Unawareness State, Post-Traumatic|Unawareness States, Persistent|Unawareness States, Postcomatose|Unawareness States, Post-Comatose|Unawareness States, Posttraumatic|Unawareness States, Post-Traumatic|Vegetative State|Vegetative State, Permanent|Vegetative State, Persistent|Vegetative State, Post-Traumatic|Vegetative States|Vegetative States, Permanent|Vegetative States, Persistent|Vegetative States, Post-Traumatic|Vegetative States, Transient|Vegetative State, Transient Nervous system disease|Signs and symptoms Personality Disorders MESH:D010554 DO:DOID:1509|DO:DOID:2745 A major deviation from normal patterns of behavior. MESH:D001523 F03.675 F03 As If Personality|Avoidant Personality Disorder|Avoidant Personality Disorders|Impulse Ridden Personality|Impulse-Ridden Personality|Inadequate Personality|Narcissistic Personality Disorder|Personality, As If|Personality Disorder|Personality Disorder, Avoidant|Personality Disorder, Narcissistic|Personality Disorders, Avoidant|Personality, Impulse-Ridden|Personality, Inadequate Mental disorder Peste-des-Petits-Ruminants MESH:D029021 A highly fatal contagious disease of goats and sheep caused by PESTE-DES-PETITS-RUMINANTS VIRUS. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia. MESH:D000820|MESH:D018185 C01.925.782.580.600.500.600|C22.706 C01.925.782.580.600.500|C22 Peste des Petits Ruminants|Pseudorinderpest Animal disease|Viral disease Pestivirus Infections MESH:D018182 Infections with viruses of the genus PESTIVIRUS, family FLAVIVIRIDAE. MESH:D018178 C01.925.782.350.675 C01.925.782.350 Infection, Pestivirus|Infections, Pestivirus|Pestivirus Infection Viral disease Peters anomaly MESH:C537884 DO:DOID:0060673|OMIM:604229 MESH:D003318|MESH:D005124 C11.204.299/C537884|C11.250/C537884|C16.131.384/C537884 C11.204.299|C11.250|C16.131.384 ANTERIOR SEGMENT DYSGENESIS 5|ASGD5 Congenital abnormality|Eye disease Peters anomaly with cataract MESH:C537885 MESH:D002386|MESH:D005901 C11.510.245/C537885|C11.525.381/C537885 C11.510.245|C11.525.381 Eye disease Petrositis MESH:D059270 DO:DOID:10755 Inflammation of PETROUS BONE. MESH:D010019|MESH:D010033 C01.160.495.750|C05.116.165.495.500|C09.218.705.663.841 C01.160.495|C05.116.165.495|C09.218.705.663 Apicitides, Petrous|Apicitis, Petrous|Gradenigo Lannois Syndrome|Gradenigo-Lannois Syndrome|Gradenigo's Syndrome|Gradenigos Syndrome|Gradenigo Syndrome|Petrositides|Petrous Apicitides|Petrous Apicitis|Syndrome, Gradenigo|Syndrome, Gradenigo-Lannois|Syndrome, Gradenigo's Ear-nose-throat disease|Musculoskeletal disease Peutz-Jeghers Syndrome MESH:D010580 DO:DOID:3852|OMIM:175200 A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits. MESH:D007911|MESH:D009386|MESH:D044483 C04.700.633|C06.405.469.578.750|C16.320.700.667|C17.800.621.430.530.550.625 C04.700|C06.405.469.578|C16.320.700|C17.800.621.430.530.550 Hamartomatous Intestinal Polyposes|Hamartomatous Intestinal Polyposis|Intestinal Polyposes, Hamartomatous|Intestinal Polyposis, Hamartomatous|Lentiginoses, Perioral|Lentiginosis, Perioral|Perioral Lentiginoses|Perioral Lentiginosis|Periorificial Lentiginosis Syndrome|Periorificial Lentiginosis Syndromes|Peutz Jeghers Polyposis|Peutz-Jeghers Polyposis|Peutz Jegher's Syndrome|Peutz Jeghers Syndrome|Peutz-Jegher's Syndrome|Peutz-Jegher Syndrome|PJS|Polyposes, Hamartomatous Intestinal|Polyposis, Hamartomatous Intestinal|Polyposis, Peutz-Jeghers|Polyps and Spots Syndrome|Polyps-and-Spots Syndrome|Polyps-and-Spots Syndromes|Syndrome, Periorificial Lentiginosis|Syndrome, Peutz-Jegher's|Syndrome, Peutz-Jeghers|Syndrome, Polyps-and-Spots|Syndromes, Periorificial Lentiginosis|Syndromes, Polyps-and-Spots Cancer|Digestive system disease|Genetic disease (inborn)|Skin disease Pfeiffer Kapferer syndrome MESH:C537887 MESH:D000015|MESH:D006130|MESH:D006319|MESH:D008607 C09.218.458.341.887/C537887|C10.597.606.360/C537887|C10.597.751.418.341.887/C537887|C16.131.077/C537887|C23.550.393/C537887|C23.888.592.604.646/C537887|C23.888.592.763.393.341.887/C537887|F03.625.539/C537887 C09.218.458.341.887|C10.597.606.360|C10.597.751.418.341.887|C16.131.077|C23.550.393|C23.888.592.604.646|C23.888.592.763.393.341.887|F03.625.539 Short stature, mental retardation and multiple dysmorphisms Congenital abnormality|Ear-nose-throat disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Pfeiffer Mayer syndrome MESH:C537888 MESH:D000015|MESH:D003103|MESH:D006130|MESH:D008607|MESH:D017689 C05.660.585.600/C537888|C10.597.606.360/C537888|C11.250.110/C537888|C11.270.147/C537888|C16.131.077/C537888|C16.131.384.282/C537888|C16.131.621.585.600/C537888|C23.550.393/C537888|C23.888.592.604.646/C537888|F03.625.539/C537888 C05.660.585.600|C10.597.606.360|C11.250.110|C11.270.147|C16.131.077|C16.131.384.282|C16.131.621.585.600|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Pfeiffer Palm Teller syndrome MESH:C537889 MESH:D000015|MESH:D003744|MESH:D006130|MESH:D007592|MESH:D019066 C05.550/C537889|C07.650.800.295.625/C537889|C07.793.700.295.625/C537889|C16.131.077/C537889|C16.131.850.800.295.625/C537889|C23.550.291.812/C537889|C23.550.393/C537889 C05.550|C07.650.800.295.625|C07.793.700.295.625|C16.131.077|C16.131.850.800.295.625|C23.550.291.812|C23.550.393 Pfeiffer-Palm-Teller Syndrome Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process) Pfeiffer Rockelein syndrome MESH:C537890 MESH:D007409|MESH:D013576 C05.116.099.370.894.819/C537890|C05.660.585.800/C537890|C05.660.906.819/C537890|C06.198.719/C537890|C06.405.469.445/C537890|C16.131.314.466/C537890|C16.131.621.585.800/C537890|C16.131.621.906.819/C537890 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C06.198.719|C06.405.469.445|C16.131.314.466|C16.131.621.585.800|C16.131.621.906.819 Asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia Congenital abnormality|Digestive system disease|Musculoskeletal disease Pfeiffer Tietze Welte syndrome MESH:C537891 MESH:D000015|MESH:D003398|MESH:D005532|MESH:D006228|MESH:D008607 C05.116.099.370.894.232/C537891|C05.330.495/C537891|C05.390.408/C537891|C05.660.207.240/C537891|C05.660.585.512.380/C537891|C05.660.585.988.425/C537891|C05.660.906.364/C537891|C10.597.606.360/C537891|C16.131.077/C537891|C16.131.621.207.240/C537891|C16.131.621.585.512.500/C537891|C16.131.621.585.988.500/C537891|C16.131.621.906.364/C537891|C23.888.592.604.646/C537891|F03.625.539/C537891 C05.116.099.370.894.232|C05.330.495|C05.390.408|C05.660.207.240|C05.660.585.512.380|C05.660.585.988.425|C05.660.906.364|C10.597.606.360|C16.131.077|C16.131.621.207.240|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.131.621.906.364|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Pfeiffer type acrocephalosyndactyly MESH:C538582 OMIM:101600 MESH:D000168 C05.116.099.370.894.232.015/C538582|C05.116.099.370.894.819.100/C538582|C05.660.207.240.100/C538582|C05.660.585.800.100/C538582|C05.660.906.364.100/C538582|C05.660.906.819.100/C538582|C16.131.621.207.240.100/C538582|C16.131.621.585.800.100/C538582|C16.131.621.906.364.100/C538582|C16.131.621.906.819.100/C538582 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.660.207.240.100|C05.660.585.800.100|C05.660.906.364.100|C05.660.906.819.100|C16.131.621.207.240.100|C16.131.621.585.800.100|C16.131.621.906.364.100|C16.131.621.906.819.100 Acrocephalosyndactyly, type 5|ACROCEPHALOSYNDACTYLY, TYPE V|ACS5|ACS V|NOACK SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED|PFEIFFER SYNDROME Congenital abnormality|Musculoskeletal disease PHACE association MESH:C537892 MESH:D001017|MESH:D005124|MESH:D020752 C10.562/C537892|C11.250/C537892|C14.240.400.090/C537892|C14.280.400.090/C537892|C16.131.077.350.712/C537892|C16.131.240.400.090/C537892|C16.131.384/C537892|C16.131.831.350.712/C537892|C16.320.850.250.712/C537892|C17.800.804.350.712/C537892|C17.800.827.250.712/C537892 C10.562|C11.250|C14.240.400.090|C14.280.400.090|C16.131.077.350.712|C16.131.240.400.090|C16.131.384|C16.131.831.350.712|C16.320.850.250.712|C17.800.804.350.712|C17.800.827.250.712 PHACES association Cardiovascular disease|Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Skin disease Phacomatosis pigmentokeratotica MESH:C537893 MESH:D009508|MESH:D012878 C04.557.665.560.615/C537893|C04.588.805/C537893|C17.800.882/C537893 C04.557.665.560.615|C04.588.805|C17.800.882 Cancer|Skin disease Phacomatosis pigmentovascularis MESH:C537894 MESH:D020752 C10.562/C537894|C16.131.077.350.712/C537894|C16.131.831.350.712/C537894|C16.320.850.250.712/C537894|C17.800.804.350.712/C537894|C17.800.827.250.712/C537894 C10.562|C16.131.077.350.712|C16.131.831.350.712|C16.320.850.250.712|C17.800.804.350.712|C17.800.827.250.712 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease Phaeohyphomycosis MESH:D060446 DO:DOID:14049 OPPORTUNISTIC INFECTIONS caused by the dematiaceous (darkly pigmented) MITOSPORIC FUNGI of ALTERNARIA, Bipolaris, CLADOSPORIUM, Curvularia, and EXOPHIALA. These fungi have pigmented HYPHAE due to MELANIN in the cell wall. The initial subcutaneous cyst from the infection can become systemic and spread rapidly to renal, pulmonary and cerebral systems (see CEREBRAL PHAEOHYPHOMYCOSIS) in an IMMUNOCOMPROMISED HOST. MESH:D009181 C01.150.703.726 C01.150.703 Cutaneous Phaeohyphomycoses|Cutaneous Phaeohyphomycosis|Phaeohyphomycoses|Phaeohyphomycoses, Cutaneous|Phaeohyphomycoses, Subcutaneous|Phaeohyphomycosis, Cutaneous|Phaeohyphomycosis, Subcutaneous|Subcutaneous Phaeohyphomycoses|Subcutaneous Phaeohyphomycosis Bacterial infection or mycosis Phagocyte Bactericidal Dysfunction MESH:D010585 DO:DOID:3262 Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. MESH:D007153|MESH:D007960 C15.378.553.774|C20.673.774 C15.378.553|C20.673 Bactericidal Dysfunction, Phagocyte|Bactericidal Dysfunctions, Phagocyte|Dysfunction, Phagocyte Bactericidal|Dysfunctions, Phagocyte Bactericidal|Phagocyte Bactericidal Dysfunctions Blood disease|Immune system disease Phagocytosis, Plasma-Related Defect in MESH:C566808 MESH:D007960 C15.378.553/C566808 C15.378.553 Blood disease Phantom Limb MESH:D010591 Perception of painful and nonpainful phantom sensations that occur following the complete or partial loss of a limb. The majority of individuals with an amputated extremity will experience the impression that the limb is still present, and in many cases, painful. (From Neurol Clin 1998 Nov;16(4):919-36; Brain 1998 Sep;121(Pt 9):1603-30) MESH:D010149|MESH:D010468 C10.597.606.762.700|C23.550.767.700.500|C23.888.592.604.764.700|C23.888.592.612.832.500 C10.597.606.762|C23.550.767.700|C23.888.592.604.764|C23.888.592.612.832 Limb Pain, Phantom|Limb Pains, Phantom|Limb, Phantom|Limbs, Phantom|Pain, Phantom|Pain, Phantom Limb|Pains, Phantom|Pains, Phantom Limb|Phantom Limb Pain|Phantom Limb Pains|Phantom Limbs|Phantom Pain|Phantom Pains|Phantom Sensation|Phantom Sensations|Pseudomelia|Pseudomelias|Sensation, Phantom|Sensations, Phantom Nervous system disease|Pathology (process)|Signs and symptoms Pharyngeal Diseases MESH:D010608 DO:DOID:2275 Pathological processes involving the PHARYNX. MESH:D009057|MESH:D010038 C07.550|C09.775 C07|C09 Disease, Pharyngeal|Disease, Pharynx|Diseases of Pharynx|Diseases, Pharyngeal|Diseases, Pharynx|Pharyngeal Disease|Pharynx Disease|Pharynx Diseases Ear-nose-throat disease|Mouth disease Pharyngeal Neoplasms MESH:D010610 DO:DOID:0060119 Tumors or cancer of the PHARYNX. MESH:D010039|MESH:D010608 C04.588.443.665.710|C07.550.745|C09.647.710|C09.775.549 C04.588.443.665|C07.550|C09.647|C09.775 Cancer of Pharynx|Cancer of the Pharynx|Cancer, Pharnyx|Cancer, Pharyngeal|Cancers, Pharnyx|Cancers, Pharyngeal|Neoplasm, Pharyngeal|Neoplasm, Pharynx|Neoplasms, Pharyngeal|Neoplasms, Pharynx|Pharnyx Cancer|Pharnyx Cancers|Pharyngeal Cancer|Pharyngeal Cancers|Pharyngeal Neoplasm|Pharynx Cancer|Pharynx Cancers|Pharynx Neoplasm|Pharynx Neoplasms Cancer|Ear-nose-throat disease|Mouth disease Pharyngitis MESH:D010612 DO:DOID:2275 Inflammation of the throat (PHARYNX). MESH:D010608|MESH:D012141 C01.748.561|C07.550.781|C08.730.561|C09.775.649 C01.748|C07.550|C08.730|C09.775 Pharyngitides|Sore Throat|Sore Throats|Throat, Sore Ear-nose-throat disease|Mouth disease|Respiratory tract disease Phenacetin O-Deethylase, Deficiency of MESH:C565127 MESH:D008661 C16.320.565/C565127|C18.452.648/C565127 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Phencyclidine Abuse MESH:D010623 DO:DOID:5062 The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning. MESH:D019966 C25.775.700|F03.900.700 C25.775|F03.900 Abuse, Angel Dust|Abuse, PCP|Abuse, Phencyclidine|Angel Dust Abuse|PCP Abuse|Phencyclidine Abuses|Phencyclidine-Related Disorder|Phencyclidine Related Disorders|Phencyclidine-Related Disorders Mental disorder|Substance-related disorder Phenol sulfotransferase deficiency MESH:C537895 MESH:D008661 C16.320.565/C537895|C18.452.648/C537895 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Phenylketonuria, Maternal MESH:D017042 DO:DOID:9281 A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95) MESH:D010661|MESH:D011248 C10.228.140.163.100.687.500|C12.050.703.575|C16.320.565.100.766.500|C16.320.565.189.687.500|C18.452.132.100.687.500|C18.452.648.100.766.500|C18.452.648.189.687.500 C10.228.140.163.100.687|C12.050.703|C16.320.565.100.766|C16.320.565.189.687|C18.452.132.100.687|C18.452.648.100.766|C18.452.648.189.687 Maternal Phenylalanine Hydroxylase Deficiency Disease|Maternal Phenylketonuria|Phenylalanine Hydroxylase Deficiency Disease, Maternal|Phenylalanine-Hydroxylase Deficiency Disease, Maternal|Phenylketonuria, Pregnancy in|PKU, Maternal|Pregnancy in Phenylketonuria Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pregnancy complication Phenylketonurias MESH:D010661 DO:DOID:9281|OMIM:261600 A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). MESH:D000592|MESH:D020739 C10.228.140.163.100.687|C16.320.565.100.766|C16.320.565.189.687|C18.452.132.100.687|C18.452.648.100.766|C18.452.648.189.687 C10.228.140.163.100|C16.320.565.100|C16.320.565.189|C18.452.132.100|C18.452.648.100|C18.452.648.189 Atypical Phenylketonuria|Atypical PKU|BH4 Deficiency|Classical Phenylketonuria|Deficiency, BH4|Deficiency, DHPR|Deficiency, Dihydropteridine Reductase|Deficiency Disease, Dihydropteridine Reductase|Deficiency Disease, Phenylalanine Hydroxylase|Deficiency Disease, Phenylalanine Hydroxylase, Severe|Deficiency, PAH|Deficiency, Phenylalanine Hydroxylase|Deficiency, QDPR|Deficiency, Tetrahydrobiopterin|DHPR Deficiency|Dihydropteridine Reductase Deficiency|Dihydropteridine Reductase Deficiency Disease|Disease, Folling|Disease, Folling's|Folling Disease|FOLLING DISEASE HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED|Folling's Disease|HPABH4C|HPA, NON-PKU MILD, INCLUDED|Hyperphenylalaninaemia|Hyperphenylalaninemia, BH4-Deficient, C|Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism|Hyperphenylalaninemia, Non Phenylketonuric|Hyperphenylalaninemia, Non-Phenylketonuric|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency|Non Phenylketonuric Hyperphenylalaninemia|Non-Phenylketonuric Hyperphenylalaninemia|Non-Phenylketonuric Hyperphenylalaninemias|Oligophrenia Phenylpyruvica|PAH Deficiency|Phenylalanine Hydroxylase Deficiency|Phenylalanine Hydroxylase Deficiency Disease|Phenylalanine Hydroxylase Deficiency Disease, Severe|Phenylketonuria|Phenylketonuria, Atypical|Phenylketonuria, Classical|Phenylketonuria I|Phenylketonuria II|PHENYLKETONURIA, MATERNAL, INCLUDED|Phenylketonuria Type 2|PKU|PKU, Atypical|QDPR Deficiency|Quinoid Dihydropteridine Reductase Deficiency|Tetrahydrobiopterin Deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease Pheochromocytoma MESH:D010673 DO:DOID:0050771|OMIM:171300 A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298) MESH:D010235 C04.557.465.625.650.700.725|C04.557.580.625.650.700.725 C04.557.465.625.650.700|C04.557.580.625.650.700 Extra-Adrenal Pheochromocytoma|Extra-Adrenal Pheochromocytomas|Pheochromocytoma, Extra Adrenal|Pheochromocytoma, Extra-Adrenal|Pheochromocytomas|Pheochromocytomas, Extra-Adrenal|PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO Cancer Pheochromocytoma Islet Cell Tumor Syndrome MESH:C566807 MESH:D010190|MESH:D010673 C04.557.465.625.650.700.725/C566807|C04.557.580.625.650.700.725/C566807|C04.588.274.761/C566807|C04.588.322.475/C566807|C06.301.761/C566807|C06.689.667/C566807|C19.344.421/C566807 C04.557.465.625.650.700.725|C04.557.580.625.650.700.725|C04.588.274.761|C04.588.322.475|C06.301.761|C06.689.667|C19.344.421 Cancer|Digestive system disease|Endocrine system disease PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 OMIM:115310 DO:DOID:0050773 MESH:D010235 C04.557.465.625.650.700/115310|C04.557.580.625.650.700/115310 C04.557.465.625.650.700|C04.557.580.625.650.700 CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS|PARAGANGLIOMA, FAMILIAL MALIGNANT|PARAGANGLIOMAS 4|PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL|PGL4|PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA|PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL|PPGL4 Cancer PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5 OMIM:614165 DO:DOID:0050773 MESH:D010235 C04.557.465.625.650.700/614165|C04.557.580.625.650.700/614165 C04.557.465.625.650.700|C04.557.580.625.650.700 PARAGANGLIOMAS 5|PGL5|PPGL5 Cancer Philadelphia Chromosome MESH:D010677 An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE). MESH:D014178 C23.550.210.870.680 C23.550.210.870 1 Chromosomes, Ph|Chromosome, Ph 1|Chromosome, Ph1|Chromosome, Philadelphia|Chromosomes, Ph 1|Chromosomes, Ph1|Ph 1 Chromosome|Ph1 Chromosome|Ph 1 Chromosomes|Ph1 Chromosomes Pathology (process) Philophobia MESH:C000719213 MESH:D010698 F03.080.725/C000719213 F03.080.725 Fear of love|Phobia, love Mental disorder Phimosis MESH:D010688 DO:DOID:2712 A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening. MESH:D010409 C12.100.500.494.684|C12.200.294.494.684 C12.100.500.494|C12.200.294.494 Phimoses Urogenital disease (male) Phlebectasia Of Lips MESH:C566806 MESH:D008047 C07.465.409/C566806 C07.465.409 Mouth disease Phlebitis MESH:D010689 DO:DOID:864 Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS). MESH:D014657|MESH:D016491 C14.907.617.718|C14.907.940.740 C14.907.617|C14.907.940 Periphlebitides|Periphlebitis|Phlebitides Cardiovascular disease Phlebotomus Fever MESH:D010217 DO:DOID:11360 Influenza-like febrile viral disease caused by several members of the BUNYAVIRIDAE family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii. MESH:D001102|MESH:D002044 C01.920.500.700|C01.925.081.700|C01.925.782.147.700 C01.920.500|C01.925.081|C01.925.782.147 Pappataci Fever|Pappataci Fevers|Phlebotomus Fevers|Sandfly Fever|Sandfly Fevers Viral disease Phobia, Social MESH:D000072861 DO:DOID:11257 Anxiety disorder characterized by the persistent and irrational fear, anxiety, or avoidance of social or performance situations. MESH:D010698 F03.080.725.500 F03.080.725 Anxiety Disorder, Social|Disorder, Social Anxiety|Evaluation Fear, Social|Fear of Social Evaluation|Phobia, Social Evaluation|Social Anxiety Disorder|Social Anxiety Disorders|Social Evaluation Fear|Social Evaluation Phobia|Social Evaluation Phobias|Social Phobia|Social Phobias|Sociophobia|Sociophobias Mental disorder Phobia, Specific MESH:C562465 DO:DOID:599|OMIM:608251 MESH:D010698 F03.080.725/C562465 F03.080.725 Phobia, Simple Mental disorder Phobic Disorders MESH:D010698 DO:DOID:591 Anxiety disorders in which the essential feature is persistent and irrational fear of a specific object, activity, or situation that the individual feels compelled to avoid. The individual recognizes the fear as excessive or unreasonable. MESH:D001008 F03.080.725 F03.080 Claustrophobia|Disorder, Phobic|Neuroses, Phobic|Phobia|Phobias|Phobia, School|Phobic Disorder|Phobic Neuroses|School Phobia|Scolionophobia Mental disorder Phobophobia MESH:C000719214 MESH:D010698 F03.080.725/C000719214 F03.080.725 Fear of phobias|Phobia, phobias Mental disorder Phosphoenolpyruvate carboxykinase deficiency MESH:C536654 OMIM:261680 MESH:D002239|MESH:D008107 C06.552/C536654|C16.320.565.202/C536654|C18.452.648.202/C536654 C06.552|C16.320.565.202|C18.452.648.202 PCK1 DEFICIENCY, CYTOSOLIC|PCKDC|PEPCK DEFICIENCY, CYTOSOLIC|Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency|Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic|Phosphoenolpyruvate carboxylase deficiency|Phosphopyruvate carboxylase deficiency Digestive system disease|Genetic disease (inborn)|Metabolic disease Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial MESH:C564890 OMIM:261650 MESH:D002239|MESH:D028361 C16.320.565.202/C564890|C18.452.648.202/C564890|C18.452.660/C564890 C16.320.565.202|C18.452.648.202|C18.452.660 PCK2 DEFICIENCY|PCKDM|PEPCK2 DEFICIENCY|Phosphoenolpyruvate carboxykinase 2 deficiency Genetic disease (inborn)|Metabolic disease Phosphoglycerate Dehydrogenase Deficiency MESH:C566618 DO:DOID:0050722|OMIM:601815 MESH:D002239|MESH:D008831|MESH:D011596|MESH:D012640 C05.660.207.620/C566618|C10.500.507.400.500/C566618|C10.597.606.881/C566618|C10.597.742/C566618|C16.131.621.207.620/C566618|C16.131.666.507.400.500/C566618|C16.320.565.202/C566618|C18.452.648.202/C566618|C23.888.592.604.882/C566618|C23.888.592.742/C566618 C05.660.207.620|C10.500.507.400.500|C10.597.606.881|C10.597.742|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.565.202|C18.452.648.202|C23.888.592.604.882|C23.888.592.742 PHGDHD|PHGDH Deficiency Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Phosphoglycerate Kinase 1 Deficiency MESH:C567067 DO:DOID:0111933|OMIM:300653 MESH:D008661|MESH:D040181 C16.320.322/C567067|C16.320.565/C567067|C18.452.648/C567067 C16.320.322|C16.320.565|C18.452.648 PGK1 Deficiency|PGK Deficiency|Phosphoglycerate Kinase Deficiency Genetic disease (inborn)|Metabolic disease Phosphoribosylpyrophosphate synthetase deficiency MESH:C537897 MESH:D011686 C16.320.565.798/C537897|C18.452.648.798/C537897 C16.320.565.798|C18.452.648.798 Genetic disease (inborn)|Metabolic disease Phosphoribosylpyrophosphate Synthetase Superactivity MESH:C567064 DO:DOID:0111260|OMIM:300661 MESH:D011686 C16.320.565.798/C567064|C18.452.648.798/C567064 C16.320.565.798|C18.452.648.798 Gout, PRPS-Related|PRPS1 SUPERACTIVITY GOUT, PRPS-RELATED, INCLUDED Genetic disease (inborn)|Metabolic disease Phosphorus Metabolism Disorders MESH:D010760 DO:DOID:2485 Disorders in the processing of phosphorus in the body: its absorption, transport, storage, and utilization. MESH:D008659 C18.452.750 C18.452 Disorder, Phosphorus Metabolism|Disorders, Phosphorus Metabolism|Metabolism Disorder, Phosphorus|Metabolism Disorders, Phosphorus|Phosphorus Metabolism Disorder Metabolic disease Phosphoserine Aminotransferase Deficiency MESH:C567032 OMIM:610992 MESH:D008831|MESH:D011596|MESH:D012640 C05.660.207.620/C567032|C10.500.507.400.500/C567032|C10.597.606.881/C567032|C10.597.742/C567032|C16.131.621.207.620/C567032|C16.131.666.507.400.500/C567032|C23.888.592.604.882/C567032|C23.888.592.742/C567032 C05.660.207.620|C10.500.507.400.500|C10.597.606.881|C10.597.742|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.604.882|C23.888.592.742 PSATD|PSAT Deficiency Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms PHOSPHOSERINE PHOSPHATASE DEFICIENCY OMIM:614023 DO:DOID:0050724 MESH:D006130|MESH:D008607|MESH:D011596 C10.597.606.360/614023|C10.597.606.881/614023|C23.550.393/614023|C23.888.592.604.646/614023|C23.888.592.604.882/614023|F03.625.539/614023 C10.597.606.360|C10.597.606.881|C23.550.393|C23.888.592.604.646|C23.888.592.604.882|F03.625.539 PSPHD Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms PHOTOPAROXYSMAL RESPONSE 1 OMIM:132100 DO:DOID:0060281 MESH:D010787 C17.800.600/132100 C17.800.600 EPILEPSY, PHOTOGENIC|PHOTOCONVULSIVE REACTION|PHOTOSENSITIVITY|PPR|PPR1 Skin disease PHOTOPAROXYSMAL RESPONSE 2 OMIM:609572 DO:DOID:0060281 MESH:D004829|MESH:D010787 C10.228.140.490.375/609572|C17.800.600/609572 C10.228.140.490.375|C17.800.600 PHOTOPAROXYSMAL RESPONSE WITH OR WITHOUT IDIOPATHIC GENERALIZED EPILEPSY|PPR2 Nervous system disease|Skin disease Photoparoxysmal Response 3 MESH:C563695 OMIM:609573 MESH:D004831|MESH:D010787 C10.228.140.490.375.130/C563695|C10.228.140.490.493.063/C563695|C17.800.600/C563695 C10.228.140.490.375.130|C10.228.140.490.493.063|C17.800.600 Photoparoxysmal Response With Or Without Myoclonic Epilepsy|PPR3 Nervous system disease|Skin disease Photophobia MESH:D020795 Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS. MESH:D014786 C10.597.751.941.661|C11.966.741|C23.888.592.763.941.661 C10.597.751.941|C11.966|C23.888.592.763.941 Light Sensitivities|Light Sensitivity|Photophobias|Sensitivities, Light|Sensitivity, Light Eye disease|Nervous system disease|Signs and symptoms photopsia MESH:C000726607 MESH:D014786 C10.597.751.941/C000726607|C11.966/C000726607|C23.888.592.763.941/C000726607 C10.597.751.941|C11.966|C23.888.592.763.941 Eye disease|Nervous system disease|Signs and symptoms Photosensitivity Disorders MESH:D010787 DO:DOID:3159 Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy. MESH:D012871 C17.800.600 C17.800 Actinic Dermatitides|Actinic Dermatitides, Chronic|Actinic Dermatitis|Actinic Dermatitis, Chronic|Actinic Reticuloid Syndrome|Actinic Reticuloid Syndromes|Chronic Actinic Dermatitides|Chronic Actinic Dermatitis|Dermatitides, Actinic|Dermatitides, Chronic Actinic|Dermatitis, Actinic|Dermatitis, Chronic Actinic|Disorder, Photosensitivity|Disorders, Photosensitivity|Photodermatitides|Photodermatitis|Photosensitivity Disorder|Photosensitization|Reticuloid Syndrome, Actinic|Reticuloid Syndromes, Actinic|Syndrome, Actinic Reticuloid|Syndromes, Actinic Reticuloid Skin disease Phyllodes Tumor MESH:D003557 DO:DOID:1631|DO:DOID:3016 A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known. MESH:D012509 C04.557.450.795.650 C04.557.450.795 Cystosarcoma Phyllodes|Cystosarcoma Phyllodes, Malignant|Cystosarcoma Phylloides|Malignant Cystosarcoma Phyllodes|Phyllodes Tumors|Tumor, Phyllodes|Tumors, Phyllodes Cancer Phyllodes Tumor of the Prostate MESH:C549759 DO:DOID:10289 MESH:D003557|MESH:D011471 C04.557.450.795.650/C549759|C04.588.945.440.770/C549759|C12.100.500.260.750/C549759|C12.100.500.565.625/C549759|C12.200.294.260.750/C549759|C12.200.294.565.625/C549759|C12.200.758.409.750/C549759|C12.900.619.750/C549759 C04.557.450.795.650|C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 Malignant Phyllodes Tumor of Prostate Cancer|Urogenital disease (male) Pica MESH:D010842 DO:DOID:12128 The persistent eating of non-nutritive substances for a period of at least one month. MESH:D001068|MESH:D012817 C23.888.821.825|F03.400.875 C23.888.821|F03.400 Allotriophagy|Geophagia Mental disorder|Signs and symptoms PICA syndrome MESH:C538664 MESH:D014854 C10.228.140.300.150.477.100.500/C538664|C10.228.140.300.775.200.100.500/C538664|C14.907.253.092.477.100.500/C538664|C14.907.253.855.200.100.500/C538664|C23.550.513.355.250.100.500/C538664|C23.550.717.489.250.100.500/C538664 C10.228.140.300.150.477.100.500|C10.228.140.300.775.200.100.500|C14.907.253.092.477.100.500|C14.907.253.855.200.100.500|C23.550.513.355.250.100.500|C23.550.717.489.250.100.500 Vertebral artery syndrome Cardiovascular disease|Nervous system disease|Pathology (process) Pick Complex MESH:C563966 MESH:D057174 C10.228.140.380.266/C563966|C10.574.950.300/C563966|C18.452.845.800.300/C563966|F03.615.400.380/C563966 C10.228.140.380.266|C10.574.950.300|C18.452.845.800.300|F03.615.400.380 Mental disorder|Metabolic disease|Nervous system disease Pick Disease of the Brain MESH:D020774 DO:DOID:11870|OMIM:172700 A rare form of DEMENTIA that is sometimes familial. Clinical features include APHASIA; APRAXIA; CONFUSION; ANOMIA; memory loss; and personality deterioration. This pattern is consistent with the pathologic findings of circumscribed atrophy of the poles of the FRONTAL LOBE and TEMPORAL LOBE. Neuronal loss is maximal in the HIPPOCAMPUS, entorhinal cortex, and AMYGDALA. Some ballooned cortical neurons contain argentophylic (Pick) bodies. (From Brain Pathol 1998 Apr;8(2):339-54; Adams et al., Principles of Neurology, 6th ed, pp1057-9) MESH:D057180 C10.228.140.380.266.299.500|F03.615.400.380.299.500 C10.228.140.380.266.299|F03.615.400.380.299 Atrophies, Lobar (Brain)|Atrophy, Lobar (Brain)|Brain Atrophy, Circumscribed Lobar|Circumscribed Lobar Atrophy of the Brain|Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions|Disease, Pick|Disease, Pick's|Lobar Atrophies (Brain)|Lobar Atrophy (Brain)|Lobar Atrophy Of Brain|Lobar Atrophy of the Brain|Pick Disease|Pick Disease Of Brain|Pick's Disease|Picks Disease|Picks Disease of Brain Mental disorder|Nervous system disease Picornaviridae Infections MESH:D010850 Virus diseases caused by the PICORNAVIRIDAE. MESH:D012327 C01.925.782.687 C01.925.782 Infection, Picornaviridae|Infection, Picornavirus|Infections, Picornaviridae|Infections, Picornavirus|Picornaviridae Infection|Picornavirus Infection|Picornavirus Infections Viral disease Piebaldism MESH:D016116 DO:DOID:3263|OMIM:172800 Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME. MESH:D000417 C16.320.290.040.600|C16.320.565.100.102.600|C16.320.850.080.600|C17.800.621.440.102.600|C17.800.827.080.600|C18.452.648.100.102.600 C16.320.290.040|C16.320.565.100.102|C16.320.850.080|C17.800.621.440.102|C17.800.827.080|C18.452.648.100.102 Albinism, Cutaneous|Albinism, Partial|Cutaneous Albinism|Partial Albinism|PBT|PIEBALDISM|Piebald Trait Genetic disease (inborn)|Metabolic disease|Skin disease Piedra MESH:D010854 DO:DOID:0050133|DO:DOID:12711|DO:DOID:13902 Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species. MESH:D006201|MESH:D009181 C01.150.703.753|C17.800.329.992 C01.150.703|C17.800.329 Black Piedra|Black Piedras|Piedra, Black|Piedras|Piedras, Black|Piedras, White|Piedra, White|White Piedra|White Piedras Bacterial infection or mycosis|Skin disease Piepkorn Karp Hickok syndrome MESH:C535774 MESH:D000015|MESH:D002114|MESH:D002972|MESH:D003398|MESH:D013576|MESH:D014564|MESH:D018376 C05.116.099.370.894.232/C535774|C05.116.099.370.894.819/C535774|C05.500.460.185/C535774|C05.660.207.240/C535774|C05.660.207.540.460.185/C535774|C05.660.585.800/C535774|C05.660.906.364/C535774|C05.660.906.819/C535774|C07.320.440.185/C535774|C07.465.525.185/C535774|C07.650.500.460.185/C535774|C07.650.525.185/C535774|C12.050.351.875/C535774|C12.200.706/C535774|C12.800/C535774|C14.240/C535774|C16.131.077/C535774|C16.131.240/C535774|C16.131.621.207.240/C535774|C16.131.621.207.540.460.185/C535774|C16.131.621.585.800/C535774|C16.131.621.906.364/C535774|C16.131.621.906.819/C535774|C16.131.850.500.460.185/C535774|C16.131.850.525.185/C535774|C16.131.939/C535774|C18.452.174.130/C535774 C05.116.099.370.894.232|C05.116.099.370.894.819|C05.500.460.185|C05.660.207.240|C05.660.207.540.460.185|C05.660.585.800|C05.660.906.364|C05.660.906.819|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C12.050.351.875|C12.200.706|C12.800|C14.240|C16.131.077|C16.131.240|C16.131.621.207.240|C16.131.621.207.540.460.185|C16.131.621.585.800|C16.131.621.906.364|C16.131.621.906.819|C16.131.850.500.460.185|C16.131.850.525.185|C16.131.939|C18.452.174.130 Cardiovascular disease|Congenital abnormality|Metabolic disease|Mouth disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Pierre Robin Sequence with Facial and Digital Anomalies MESH:C564078 MESH:D010855|MESH:D019066 C05.500.460.606/C564078|C05.660.207.540.460.606/C564078|C07.320.440.606/C564078|C07.650.500.460.606/C564078|C16.131.621.207.540.460.606/C564078|C16.131.850.500.460.606/C564078|C23.550.291.812/C564078 C05.500.460.606|C05.660.207.540.460.606|C07.320.440.606|C07.650.500.460.606|C16.131.621.207.540.460.606|C16.131.850.500.460.606|C23.550.291.812 Chitayat Meunier Hodgkinson syndrome|Robin sequence with facial and digital anomalies Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (process) Pierre Robin sequence with pectus excavatum and rib and scapular anomalies MESH:C535775 MESH:D010855|MESH:D055036 C05.500.460.606/C535775|C05.660.142/C535775|C05.660.207.540.460.606/C535775|C07.320.440.606/C535775|C07.650.500.460.606/C535775|C16.131.621.142/C535775|C16.131.621.207.540.460.606/C535775|C16.131.850.500.460.606/C535775 C05.500.460.606|C05.660.142|C05.660.207.540.460.606|C07.320.440.606|C07.650.500.460.606|C16.131.621.142|C16.131.621.207.540.460.606|C16.131.850.500.460.606 Campomelic dysplasia, mild Congenital abnormality|Mouth disease|Musculoskeletal disease Pierre Robin Syndrome MESH:D010855 DO:DOID:4258|OMIM:261800 Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome. MESH:D007569 C05.500.460.606|C05.660.207.540.460.606|C07.320.440.606|C07.650.500.460.606|C16.131.621.207.540.460.606|C16.131.850.500.460.606 C05.500.460|C05.660.207.540.460|C07.320.440|C07.650.500.460|C16.131.621.207.540.460|C16.131.850.500.460 Glossoptosis, Micrognathia, and Cleft Palate|Pierre Robin Sequence|Pierre Robin's Sequence|Pierre Robins Sequence|Pierre-Robin Syndrome|PRBNS|Robin Sequence|Robin Syndrome, Pierre|Sequence, Pierre Robin|Sequence, Pierre Robin's|Sequence, Robin|Syndrome, Pierre Robin|Syndrome, Pierre-Robin Congenital abnormality|Mouth disease|Musculoskeletal disease Pierre Robin syndrome with fetal chondrodysplasia MESH:C535776 OMIM:184840 MESH:D010009|MESH:D010855 C05.116.099.708/C535776|C05.500.460.606/C535776|C05.660.207.540.460.606/C535776|C07.320.440.606/C535776|C07.650.500.460.606/C535776|C16.131.621.207.540.460.606/C535776|C16.131.850.500.460.606/C535776|C16.320.728/C535776 C05.116.099.708|C05.500.460.606|C05.660.207.540.460.606|C07.320.440.606|C07.650.500.460.606|C16.131.621.207.540.460.606|C16.131.850.500.460.606|C16.320.728 Heterozygous Osmed|Heterozygous Otospondylomegaepiphyseal Dysplasia|OSMEDA|OSMED, HETEROZYGOUS|OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT|PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA STICKLER SYNDROME, NONOCULAR TYPE, FORMERLY|STICKLER SYNDROME, TYPE III, FORMERLY|STL3, FORMERLY|Weissenbacher-Zweymuller syndrome|Weissenbacher-Zweymüller Syndrome|WZS Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Pierson syndrome MESH:C537185 DO:DOID:0060852|OMIM:609049 MESH:D009404|MESH:D011681|MESH:D020294 C10.597.690/C537185|C10.668.758.800/C537185|C11.710/C537185|C12.050.351.968.419.630.643/C537185|C12.200.777.419.630.643/C537185|C12.950.419.630.643/C537185|C16.320.590/C537185|C23.888.592.708/C537185 C10.597.690|C10.668.758.800|C11.710|C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643|C16.320.590|C23.888.592.708 Microcoria and congenital nephrotic syndrome|Microcoria-Congenital Nephrotic Syndrome|Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome|PIERS Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Pigmentary Disorder, Reticulate, with Systemic Manifestations MESH:C564461 DO:DOID:0111834|OMIM:301220 MESH:D010859|MESH:D012873|MESH:D028226|MESH:D040181 C16.320.322/C564461|C16.320.565.176/C564461|C16.320.850/C564461|C17.800.621/C564461|C17.800.827/C564461|C18.452.648.176/C564461|C18.452.845.500.075/C564461|C23.550.755/C564461 C16.320.322|C16.320.565.176|C16.320.850|C17.800.621|C17.800.827|C18.452.648.176|C18.452.845.500.075|C23.550.755 Amyloidosis, Familial Cutaneous|PDR|PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED|XLPDR Genetic disease (inborn)|Metabolic disease|Pathology (process)|Skin disease Pigmentation Disorders MESH:D010859 DO:DOID:3156 Diseases affecting PIGMENTATION, including SKIN PIGMENTATION. MESH:D010335|MESH:D012871 C17.800.621|C23.550.755 C17.800|C23.550 Disease, Schamberg|Disease, Schamberg's|Disorder, Pigmentation|Disorders, Pigmentation|Incontinentia Pigmenti Achromians|Ito Syndrome|Pigmentation Disorder|Schamberg Disease|Schamberg's Disease|Schambergs Disease|Syndrome, Ito Pathology (process)|Skin disease Pigmented Nodular Adrenocortical Disease, Primary, 1 MESH:C566469 DO:DOID:0060280|OMIM:610489 MESH:D000303 C19.053.098/C566469 C19.053.098 Adrenocortical Nodular Dysplasia, Primary|Cushing Syndrome, Adrenal, Due To PPNAD1|Pigmented Micronodular Adrenocortical Disease, Primary, 1|PPNAD1 Endocrine system disease Pigmented Nodular Adrenocortical Disease, Primary, 2 MESH:C566472 DO:DOID:0060280|OMIM:610475 MESH:D000303 C19.053.098/C566472 C19.053.098 Cushing Syndrome, Adrenal, Due To PPNAD2|Pigmented Micronodular Adrenocortical Disease, Primary, 2|PPNAD2 Endocrine system disease PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 OMIM:614190 DO:DOID:0060280 MESH:D000303 C19.053.098/614190 C19.053.098 CUSHING SYNDROME, ADRENAL, DUE TO PPNAD3|PPNAD3 Endocrine system disease PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 OMIM:615830 DO:DOID:0060280 MESH:D000303 C19.053.098/615830 C19.053.098 CHROMOSOME 19p13 DUPLICATION SYNDROME ACTH-INDEPENDENT ADRENAL CUSHING SYNDROME, SOMATIC, INCLUDED|CUSHING SYNDROME, ADRENAL, DUE TO PPNAD4|PPNAD4 Endocrine system disease Pigmented Paravenous Chorioretinal Atrophy MESH:C566801 DO:DOID:0111541|OMIM:172870 MESH:D012162|MESH:D015785 C11.270.612/C566801|C11.270/C566801|C11.768.585/C566801|C16.320.290/C566801 C11.270|C11.270.612|C11.768.585|C16.320.290 PPCRA Eye disease|Genetic disease (inborn) Pigmented purpuric eruption MESH:C537186 MESH:D010859|MESH:D011693 C15.378.100.802/C537186|C17.800.621/C537186|C23.550.414.950/C537186|C23.550.755/C537186|C23.888.885.687/C537186 C15.378.100.802|C17.800.621|C23.550.414.950|C23.550.755|C23.888.885.687 Familial pigmented purpuric eruption|Familial Schamberg's disease|Schamberg purpura Blood disease|Pathology (process)|Signs and symptoms|Skin disease Pili annulati MESH:C537187 MESH:D006201 C17.800.329/C537187 C17.800.329 Ringed hair Skin disease Pili multigemini MESH:C537188 MESH:D006201 C17.800.329/C537188 C17.800.329 Compound hairs Skin disease Pili Torti MESH:C562485 MESH:D006201 C17.800.329/C562485 C17.800.329 Twisted Hair Skin disease Pili torti developmental delay neurological abnormalities MESH:C537398 MESH:D006130|MESH:D006201 C17.800.329/C537398|C23.550.393/C537398 C17.800.329|C23.550.393 Pili torti and developmental delay Pathology (process)|Skin disease Pili torti onychodysplasia MESH:C537399 MESH:D006201|MESH:D009264 C17.800.329/C537399|C23.300.820/C537399 C17.800.329|C23.300.820 Twisted hair with nail dysplasias Pathology (anatomical condition)|Skin disease Pilomatrixoma MESH:D018296 DO:DOID:5374|OMIM:132600 A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. It is a relatively uncommon tumor, which may occur at any age from infancy. The majority of patients are under 20, and females are affected more than males. The lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (From Rook et al., Textbook of Dermatology, 4th ed, p2401) MESH:D018295 C04.557.470.565.625 C04.557.470.565 Benign Pilomatricoma|Benign Pilomatrixoma|Calcifying Epithelioma of Malherbe|Epithelioma Calcificans Of Malherbe|Malherbe Calcifying Epithelioma|Pilomatricoma|Pilomatricoma, Benign|Pilomatrixoma, Benign|PTR Cancer Pilonidal Sinus MESH:D010864 A hair-containing cyst or sinus, occurring chiefly in the coccygeal region. MESH:D003560 C04.182.710 C04.182 Cyst, Pilonidal|Cysts, Pilonidal|Pilonidal Cyst|Pilonidal Cysts|Sinus, Pilonidal Cancer Pilotto syndrome MESH:C537400 MESH:D000015|MESH:D002971|MESH:D002972|MESH:D006130|MESH:D006330|MESH:D008607|MESH:D012600 C05.116.900.800.875/C537400|C05.500.460.185/C537400|C05.660.207.540.460.185/C537400|C07.320.440.185/C537400|C07.465.409.225/C537400|C07.465.525.164/C537400|C07.465.525.185/C537400|C07.650.500.460.185/C537400|C07.650.525.164/C537400|C07.650.525.185/C537400|C10.597.606.360/C537400|C14.240.400/C537400|C14.280.400/C537400|C16.131.077/C537400|C16.131.240.400/C537400|C16.131.621.207.540.460.185/C537400|C16.131.850.500.460.185/C537400|C16.131.850.525.164/C537400|C16.131.850.525.185/C537400|C23.550.393/C537400|C23.888.592.604.646/C537400|F03.625.539/C537400 C05.116.900.800.875|C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C10.597.606.360|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C23.550.393|C23.888.592.604.646|F03.625.539 Cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation Cardiovascular disease|Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Pinealoma MESH:D010871 DO:DOID:1664|DO:DOID:5032 Neoplasms which originate from pineal parenchymal cells that tend to enlarge the gland and be locally invasive. The two major forms are pineocytoma and the more malignant pineoblastoma. Pineocytomas have moderate cellularity and tend to form rosette patterns. Pineoblastomas are highly cellular tumors containing small, poorly differentiated cells. These tumors occasionally seed the neuroaxis or cause obstructive HYDROCEPHALUS or Parinaud's syndrome. GERMINOMA; CARCINOMA, EMBRYONAL; GLIOMA; and other neoplasms may arise in the pineal region with germinoma being the most common pineal region tumor. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2064; Adams et al., Principles of Neurology, 6th ed, p670) MESH:D001932|MESH:D018302 C04.557.465.625.600.657|C04.557.470.670.657|C04.557.580.625.600.657|C04.588.614.250.195.766|C10.228.140.211.788|C10.551.240.250.625 C04.557.465.625.600|C04.557.470.670|C04.557.580.625.600|C04.588.614.250.195|C10.228.140.211|C10.551.240.250 Mixed Pineocytoma Pineoblastoma|Mixed Pineocytoma-Pineoblastoma|Mixed Pineocytoma-Pineoblastomas|Neoplasm, Pineal|Neoplasms, Pineal|Pineal Gland Tumor|Pineal Gland Tumors|Pineal Neoplasm|Pineal Neoplasms|Pinealocytoma|Pinealocytomas|Pinealomas|Pineal Parenchymal Tumor|Pineal Parenchymal Tumors|Pineal Tumor|Pineal Tumors|Pineoblastoma|Pineoblastomas|Pineocytoma|Pineocytoma-Pineoblastoma, Mixed|Pineocytoma-Pineoblastomas, Mixed|Pineocytomas|Tumor, Pineal|Tumor, Pineal Gland|Tumor, Pineal Parenchymal|Tumors, Pineal|Tumors, Pineal Gland|Tumors, Pineal Parenchymal Cancer|Nervous system disease Pineal Teratoma MESH:C537401 MESH:D010871|MESH:D013724 C04.557.465.625.600.657/C537401|C04.557.465.910/C537401|C04.557.470.670.657/C537401|C04.557.580.625.600.657/C537401|C04.588.614.250.195.766/C537401|C10.228.140.211.788/C537401|C10.551.240.250.625/C537401 C04.557.465.625.600.657|C04.557.465.910|C04.557.470.670.657|C04.557.580.625.600.657|C04.588.614.250.195.766|C10.228.140.211.788|C10.551.240.250.625 Teratoma, Pineal Cancer|Nervous system disease Pinguecula MESH:D059407 DO:DOID:11029 A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS. MESH:D003229 C11.187.631 C11.187 Pingueculas Eye disease Pinheiro Freire-Maia Miranda syndrome MESH:C537402 MESH:D000848|MESH:D004476|MESH:D009264 C07.650.800.100/C537402|C07.793.700.100/C537402|C16.131.077.350/C537402|C16.131.831.350/C537402|C16.131.850.800.100/C537402|C16.320.850.250/C537402|C17.800.804.350/C537402|C17.800.827.250/C537402|C23.300.820/C537402 C07.650.800.100|C07.793.700.100|C16.131.077.350|C16.131.831.350|C16.131.850.800.100|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.300.820 Trichodermodysplasia with dental alterations Congenital abnormality|Genetic disease (inborn)|Mouth disease|Pathology (anatomical condition)|Skin disease Pinta MESH:D010874 DO:DOID:1022 An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact. MESH:D014211|MESH:D017192 C01.150.252.400.794.840.250|C01.150.252.400.840.250|C01.150.252.819.630|C01.800.720.630|C17.800.838.765.630 C01.150.252.400.794.840|C01.150.252.400.840|C01.150.252.819|C01.800.720|C17.800.838.765 Bacterial infection or mycosis|Skin disease Piriformis Muscle Syndrome MESH:D055958 A chronic PELVIC PAIN characterized by pain deep in the buttock that may radiate to posterior aspects of the leg. It is caused by the piriformis muscle compressing or irritating the SCIATIC NERVE due to trauma, hypertrophy, inflammation or anatomic variations. MESH:D009408|MESH:D009437|MESH:D017699|MESH:D020426 C10.668.829.500.675.399|C10.668.829.550.500|C10.668.829.600.675|C23.888.592.612.664.675|C23.888.592.612.944.750 C10.668.829.500.675|C10.668.829.550|C10.668.829.600|C23.888.592.612.664|C23.888.592.612.944 Muscle Syndrome, Piriformis|Muscle Syndromes, Piriformis|Piriformis Muscle Syndromes|Piriformis syndrome|Piriformis syndromes|syndrome, Piriformis|Syndrome, Piriformis Muscle|syndromes, Piriformis|Syndromes, Piriformis Muscle Nervous system disease|Signs and symptoms Piscirickettsiaceae Infections MESH:D044225 Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish. MESH:D016905 C01.150.252.400.719 C01.150.252.400 Piscirickettsiaceae Infection|Piscirickettsioses|Piscirickettsiosis Bacterial infection or mycosis PITT-HOPKINS-LIKE SYNDROME 2 OMIM:614325 DO:DOID:0111332 MESH:C537403 C08.618.501/C537403/614325|C10.597.606.360/C537403/614325|C23.550.291.812/C537403/614325|C23.888.592.604.646/C537403/614325|C23.888.852.591/C537403/614325|F03.625.539/C537403/614325 C08.618.501/C537403|C10.597.606.360/C537403|C23.550.291.812/C537403|C23.888.592.604.646/C537403|C23.888.852.591/C537403|F03.625.539/C537403 PTHSL2 Mental disorder|Nervous system disease|Pathology (process)|Respiratory tract disease|Signs and symptoms Pitt-Hopkins syndrome MESH:C537403 DO:DOID:0060488|OMIM:610954 MESH:D006985|MESH:D008607|MESH:D019066 C08.618.501/C537403|C10.597.606.360/C537403|C23.550.291.812/C537403|C23.888.592.604.646/C537403|C23.888.852.591/C537403|F03.625.539/C537403 C08.618.501|C10.597.606.360|C23.550.291.812|C23.888.592.604.646|C23.888.852.591|F03.625.539 Encephalopathy, Severe Epileptic, With Autonomic Dysfunction|Mental Retardation, Syndromal, With Intermittent Hyperventilation|Pitt Hopkins syndrome|PTHS Mental disorder|Nervous system disease|Pathology (process)|Respiratory tract disease|Signs and symptoms Pituitary ACTH Hypersecretion MESH:D047748 DO:DOID:3946 A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME. MESH:D006964 C10.228.140.617.738.250.725|C19.700.355.800 C10.228.140.617.738.250|C19.700.355 ACTH Hypersecretion, Pituitary|Adrenocorticotropic Hormone, Inappropriate Secretion|Cushing Disease|Cushing Disease, Pituitary|Cushing Diseases, Pituitary|Cushing's Disease|Cushing Syndrome, Pituitary|Cushing Syndrome, Pituitary-Dependant|Disease, Cushing|Hypercortisolism Disorder, Pituitary-Dependant|Hypercortisolism, Pituitary-Dependant|Hypersecretion, Pituitary ACTH|Inappropriate ACTH Secretion Syndrome|Inappropriate Adrenocorticotropic Hormone Secretion|Pituitary Cushing Disease|Pituitary Cushing Diseases|Pituitary Cushing Syndrome|Pituitary Dependant Cushing Syndrome|Pituitary-Dependant Cushing Syndrome|Pituitary Dependant Hypercortisolism|Pituitary-Dependant Hypercortisolism|Pituitary Dependant Hypercortisolism Disorder|Pituitary-Dependant Hypercortisolism Disorder|Pituitary-Dependant Hypercortisolism Disorders|Pituitary-Dependant Hypercortisolisms Endocrine system disease|Nervous system disease PITUITARY ADENOMA 1, MULTIPLE TYPES OMIM:102200 DO:DOID:0112009 MESH:D015175|MESH:D049912 C04.557.470.035.415/102200|C04.557.470.035.625/102200|C04.588.322.609.292/102200|C04.588.322.609.792/102200|C10.228.140.617.738.675.299/102200|C10.228.140.617.738.675.800/102200|C19.344.609.292/102200|C19.344.609.792/102200|C19.700.734.292/102200|C19.700.734.792/102200 C04.557.470.035.415|C04.557.470.035.625|C04.588.322.609.292|C04.588.322.609.792|C10.228.140.617.738.675.299|C10.228.140.617.738.675.800|C19.344.609.292|C19.344.609.792|C19.700.734.292|C19.700.734.792 ACROMEGALY DUE TO PITUITARY ADENOMA 1|FIPA, INCLUDED|FIS|IFS|ISOLATED FAMILIAL SOMATOTROPINOMA|PAGH1 PITUITARY ADENOMA PREDISPOSITION, INCLUDED|PAP, INCLUDED|PITA1|PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED|SOMATOTROPHINOMA, FAMILIAL|SOMATOTROPINOMA, FAMILIAL ISOLATED Cancer|Endocrine system disease|Nervous system disease Pituitary Adenoma, Familial Isolated MESH:C566321 MESH:D049912 C04.557.470.035.415/C566321|C04.588.322.609.292/C566321|C10.228.140.617.738.675.299/C566321|C19.344.609.292/C566321|C19.700.734.292/C566321 C04.557.470.035.415|C04.588.322.609.292|C10.228.140.617.738.675.299|C19.344.609.292|C19.700.734.292 Cancer|Endocrine system disease|Nervous system disease Pituitary Apoplexy MESH:D010899 DO:DOID:1129 The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA. MESH:D010900|MESH:D020300 C10.228.140.300.535.625|C10.228.140.617.738.350|C14.907.253.573.600|C19.700.725 C10.228.140.300.535|C10.228.140.617.738|C14.907.253.573|C19.700 Apoplexy, Pituitary Cardiovascular disease|Endocrine system disease|Nervous system disease Pituitary Diseases MESH:D010900 Disorders involving either the ADENOHYPOPHYSIS or the NEUROHYPOPHYSIS. These diseases usually manifest as hypersecretion or hyposecretion of PITUITARY HORMONES. Neoplastic pituitary masses can also cause compression of the OPTIC CHIASM and other adjacent structures. MESH:D004700|MESH:D007027 C10.228.140.617.738|C19.700 C10.228.140.617|C19 Adenohypophyseal Disease|Adenohypophyseal Diseases|Anterior Pituitary Disease|Anterior Pituitary Diseases|Disease, Adenohypophyseal|Disease, Anterior Pituitary|Disease, Neurohypophyseal|Disease, Pituitary|Disease, Pituitary Gland|Disease, Posterior Pituitary|Diseases, Adenohypophyseal|Diseases, Anterior Pituitary|Diseases, Neurohypophyseal|Diseases, Pituitary|Diseases, Pituitary Gland|Diseases, Posterior Pituitary|Disorder, Hypophyseal|Disorder, Pituitary|Disorders, Hypophyseal|Disorders, Pituitary|Hypophyseal Disorder|Hypophyseal Disorders|Neurohypophyseal Disease|Neurohypophyseal Diseases|Pituitary Disease|Pituitary Disease, Anterior|Pituitary Disease, Posterior|Pituitary Diseases, Anterior|Pituitary Diseases, Posterior|Pituitary Disorder|Pituitary Disorders|Pituitary Gland Disease|Pituitary Gland Diseases|Posterior Pituitary Disease|Posterior Pituitary Diseases Endocrine system disease|Nervous system disease Pituitary dwarfism 1 MESH:C537404 OMIM:262400 MESH:D004393 C05.116.099.343.445/C537404|C05.116.132.358/C537404|C10.228.140.617.738.300.300/C537404|C19.297.312/C537404|C19.700.482.311/C537404 C05.116.099.343.445|C05.116.132.358|C10.228.140.617.738.300.300|C19.297.312|C19.700.482.311 Growth hormone deficiency, isolated, autosomal recessive|IGHD1A|IGHD IA|ILLIG-TYPE GROWTH HORMONE DEFICIENCY|Isolated growth hormone deficiency, type 1b|Isolated Growth Hormone Deficiency, Type IA|Nanism due to growth hormone isolated deficiency|Pituitary Dwarfism I|PRIMORDIAL DWARFISM|Sexual ateleiotic dwarfism Endocrine system disease|Musculoskeletal disease|Nervous system disease Pituitary Dwarfism with Large Sella Turcica MESH:C562705 MESH:D004393 C05.116.099.343.445/C562705|C05.116.132.358/C562705|C10.228.140.617.738.300.300/C562705|C19.297.312/C562705|C19.700.482.311/C562705 C05.116.099.343.445|C05.116.132.358|C10.228.140.617.738.300.300|C19.297.312|C19.700.482.311 Endocrine system disease|Musculoskeletal disease|Nervous system disease Pituitary Hormone Deficiency, Combined, 1 MESH:C567803 OMIM:613038 MESH:D000015|MESH:D007037|MESH:D019066 C16.131.077/C567803|C19.874.482/C567803|C23.550.291.812/C567803 C16.131.077|C19.874.482|C23.550.291.812 CPHD1|PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 Congenital abnormality|Endocrine system disease|Pathology (process) Pituitary Hormone Deficiency, Combined, 2 MESH:C563172 OMIM:262600 MESH:D004393 C05.116.099.343.445/C563172|C05.116.132.358/C563172|C10.228.140.617.738.300.300/C563172|C19.297.312/C563172|C19.700.482.311/C563172 C05.116.099.343.445|C05.116.132.358|C10.228.140.617.738.300.300|C19.297.312|C19.700.482.311 Ateliotic Dwarfism With Hypogonadism|CPHD2|Hanhart Dwarfism|PANHYPOPITUITARISM|Pituitary Dwarfism III Endocrine system disease|Musculoskeletal disease|Nervous system disease Pituitary Hormone Deficiency, Combined, 4 MESH:C567492 OMIM:262700 MESH:D000015|MESH:D004393|MESH:D007037 C05.116.099.343.445/C567492|C05.116.132.358/C567492|C10.228.140.617.738.300.300/C567492|C16.131.077/C567492|C19.297.312/C567492|C19.700.482.311/C567492|C19.874.482/C567492 C05.116.099.343.445|C05.116.132.358|C10.228.140.617.738.300.300|C16.131.077|C19.297.312|C19.700.482.311|C19.874.482 CPHD4|Pituitary Hormone Deficiency, Combined, With Or Without Cerebellar Defects|Short Stature, Pituitary And Cerebellar Defects, And Small Sella Turcica Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Nervous system disease Pituitary Neoplasms MESH:D010911 DO:DOID:1785|DO:DOID:3829|DO:DOID:4916 Neoplasms which arise from or metastasize to the PITUITARY GLAND. The majority of pituitary neoplasms are adenomas, which are divided into non-secreting and secreting forms. Hormone producing forms are further classified by the type of hormone they secrete. Pituitary adenomas may also be characterized by their staining properties (see ADENOMA, BASOPHIL; ADENOMA, ACIDOPHIL; and ADENOMA, CHROMOPHOBE). Pituitary tumors may compress adjacent structures, including the HYPOTHALAMUS, several CRANIAL NERVES, and the OPTIC CHIASM. Chiasmal compression may result in bitemporal HEMIANOPSIA. MESH:D004701|MESH:D007029|MESH:D010900 C04.588.322.609|C04.588.614.250.195.885.500.600|C10.228.140.211.885.500.600|C10.228.140.617.477.600|C10.228.140.617.738.675|C10.551.240.250.700.500.500|C19.344.609|C19.700.734 C04.588.322|C04.588.614.250.195.885.500|C10.228.140.211.885.500|C10.228.140.617.477|C10.228.140.617.738|C10.551.240.250.700.500|C19.344|C19.700 Adenoma, Pituitary|Adenomas, Pituitary|Cancer of Pituitary|Cancer of the Pituitary|Cancer, Pituitary|Cancers, Pituitary|Carcinoma, Pituitary|Carcinomas, Pituitary|Neoplasm, Pituitary|Neoplasms, Pituitary|Pituitary Adenoma|Pituitary Adenomas|Pituitary Cancer|Pituitary Cancers|Pituitary Carcinoma|Pituitary Carcinomas|Pituitary Neoplasm|Pituitary Tumor|Pituitary Tumors|Tumor, Pituitary|Tumors, Pituitary Cancer|Endocrine system disease|Nervous system disease Pityriasis MESH:D010915 A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed) MESH:D017444 C17.800.859.600 C17.800.859 Pityriases Skin disease Pityriasis Lichenoides MESH:D017514 A subgroup of PARAPSORIASIS itself divided into acute and chronic forms. The acute form is characterized by the abrupt onset of a generalized, reddish-brown, maculopapular eruption. Lesions may be vesicular, hemorrhagic, crusted, or necrotic. Histologically the disease is characterized by epidermal necrolysis. The chronic form shows milder skin changes with necrosis. MESH:D010267|MESH:D010915|MESH:D017512 C17.800.859.475.650|C17.800.859.575.650|C17.800.859.600.650 C17.800.859.475|C17.800.859.575|C17.800.859.600 Acute Pityriasis Lichenoides|Chronic Pityriasis Lichenoides|Disease, Habermann|Disease, Habermann's|Disease, Mucha-Habermann|Habermann Disease|Habermann's Disease|Habermanns Disease|Mucha Habermann Disease|Mucha-Habermann Disease|Pityriasis Lichenoides, Acute|Pityriasis Lichenoides, Chronic|Pityriasis Lichenoides Chronica|Pityriasis Lichenoides et Varioliformis Acuta Skin disease Pityriasis Rosea MESH:D017515 DO:DOID:8892 A mild exanthematous inflammation of unknown etiology. It is characterized by the presence of salmon-colored maculopapular lesions. The most striking feature is the arrangement of the lesions such that the long axis is parallel to the lines of cleavage. The eruptions are usually generalized, affecting chiefly the trunk, and the course is often self-limiting. MESH:D010915 C17.800.859.600.675 C17.800.859.600 Skin disease Pityriasis Rubra Pilaris MESH:D010916 DO:DOID:9212|OMIM:173200 A chronic skin disease characterized by small follicular papules, disseminated reddish-brown scaly patches, and often, palmoplantar hyperkeratosis. The papules are about the size of a pin and topped by a horny plug. MESH:D010915 C17.800.859.600.685 C17.800.859.600 PRP Skin disease Piussan Lenaerts Mathieu syndrome MESH:C537511 MESH:D000844|MESH:D008607 C05.550.069/C537511|C10.597.606.360/C537511|C23.888.592.604.646/C537511|F03.625.539/C537511 C05.550.069|C10.597.606.360|C23.888.592.604.646|F03.625.539 Thumb ankylosis with mental retardation Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Placenta Accreta MESH:D010921 DO:DOID:4744 Abnormal placentation in which all or parts of the PLACENTA are attached directly to the MYOMETRIUM due to a complete or partial absence of DECIDUA. It is associated with POSTPARTUM HEMORRHAGE because of the failure of placental separation. MESH:D007744|MESH:D010922 C12.050.703.420.643|C12.050.703.590.609 C12.050.703.420|C12.050.703.590 Accreta, Placenta|Increta, Placenta|Percreta, Placenta|Placenta Increta|Placenta Percreta Pregnancy complication Placenta Diseases MESH:D010922 DO:DOID:780 Pathological processes or abnormal functions of the PLACENTA. MESH:D011248 C12.050.703.590 C12.050.703 Disease, Placenta|Disease, Placental|Diseases, Placenta|Diseases, Placental|Disorder, Placenta|Disorders, Placenta|Placenta Disease|Placenta Disorder|Placenta Disorders|Placental Disease|Placental Diseases Pregnancy complication Placental Insufficiency MESH:D010927 DO:DOID:3891 Failure of the PLACENTA to deliver an adequate supply of nutrients and OXYGEN to the FETUS. MESH:D010922 C12.050.703.590.800 C12.050.703.590 Insufficiency, Placental Pregnancy complication Placenta Previa MESH:D010923 DO:DOID:11060 Abnormal placentation in which the PLACENTA implants in the lower segment of the UTERUS (the zone of dilation) and may cover part or all of the opening of the CERVIX. It is often associated with serious antepartum bleeding and PREMATURE LABOR. MESH:D007744|MESH:D010922 C12.050.703.420.714|C12.050.703.590.734 C12.050.703.420|C12.050.703.590 Placenta Praevia Pregnancy complication Placenta, Retained MESH:D018457 A placenta that fails to be expelled after BIRTH of the FETUS. A PLACENTA is retained when the UTERUS fails to contract after the delivery of its content, or when the placenta is abnormally attached to the MYOMETRIUM. MESH:D010922 C12.050.703.590.767 C12.050.703.590 Placentas, Retained|Retained Placenta|Retained Placentas Pregnancy complication Plagiocephaly MESH:D059041 The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. It can either result from the premature CRANIAL SUTURE closure (CRANIOSYNOSTOSIS) or from external forces (NONSYNOSTOTIC PLAGIOCEPHALY). MESH:D019465 C05.660.207.707|C16.131.621.207.707 C05.660.207|C16.131.621.207 Plagiocephalies Congenital abnormality|Musculoskeletal disease Plagiocephaly and X-linked mental retardation MESH:C537512 MESH:D003398|MESH:D038901 C05.116.099.370.894.232/C537512|C05.660.207.240/C537512|C05.660.906.364/C537512|C10.597.606.360.455/C537512|C16.131.621.207.240/C537512|C16.131.621.906.364/C537512|C16.320.322.500/C537512|C16.320.400.525/C537512 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C10.597.606.360.455|C16.131.621.207.240|C16.131.621.906.364|C16.320.322.500|C16.320.400.525 Hyde Forster Mccarthy Berry syndrome|Mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|Mental retardation, X-linked Hyde-Forster type|Mental retardation, X-linked, Hyde-Forster type|Mental retardation, X-linked, with craniofacial dysmorphism Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Plagiocephaly, Nonsynostotic MESH:D049068 A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as craniosynostoses, and is characterized by an asymmetric skull and face. It is observed with an increased frequency in INFANTS after the adoption of supine sleeping recommendations to prevent SUDDEN INFANT DEATH SYNDROME. MESH:D059041 C05.660.207.707.624|C16.131.621.207.707.624 C05.660.207.707|C16.131.621.207.707 Deformational Plagiocephalies|Deformational Plagiocephaly|Nonsynostotic Plagiocephaly|Plagiocephalies, Deformational|Plagiocephalies, Positional|Plagiocephaly, Deformational|Plagiocephaly, Positional|Positional Plagiocephalies|Positional Plagiocephaly Congenital abnormality|Musculoskeletal disease Plague MESH:D010930 DO:DOID:10398|DO:DOID:10773|DO:DOID:3481|DO:DOID:3482 An acute infectious disease caused by YERSINIA PESTIS that affects humans, wild rodents, and their ectoparasites. This condition persists due to its firm entrenchment in sylvatic rodent-flea ecosystems throughout the world. Bubonic plague is the most common form. MESH:D000079426|MESH:D015009 C01.150.252.400.310.980.390|C01.920.906 C01.150.252.400.310.980|C01.920 Black Death|Black Plague|Bubonic Plague|Meningeal Plague|Pneumonic Plague|Pulmonic Plague|Septicemic Plague|Yersinia pestis Infection Bacterial infection or mycosis Plantar Fibromatosis, Familial MESH:C565084 MESH:D005350|MESH:D005534 C04.557.450.565.590.340/C565084|C05.360/C565084|C17.800.321/C565084 C04.557.450.565.590.340|C05.360|C17.800.321 Plantar Fibromas Cancer|Musculoskeletal disease|Skin disease Plantar Lipomatosis, Unusual Facies, and Developmental Delay MESH:C566559 OMIM:602342 MESH:D002658|MESH:D008068|MESH:D019066 C17.800.463/C566559|C18.452.584.718/C566559|C23.550.291.812/C566559|F03.625.421/C566559 C17.800.463|C18.452.584.718|C23.550.291.812|F03.625.421 PIERPONT SYNDROME|PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY|PRPTS Mental disorder|Metabolic disease|Pathology (process)|Skin disease Plant Poisoning MESH:D010939 Poisoning by the ingestion of plants or its leaves, berries, roots or stalks. The manifestations in both humans and animals vary in severity from mild to life threatening. In animals, especially domestic animals, it is usually the result of ingesting moldy or fermented forage. MESH:D011041 C25.723.756 C25.723 Plant Poisonings|Poisoning, Plant|Poisonings, Plant Plaque, Amyloid MESH:D058225 Accumulations of extracellularly deposited AMYLOID FIBRILS within tissues. MESH:D020763 C23.300.821 C23.300 Amyloid Deposit|Amyloid Deposits|Amyloid Plaque|Amyloid Plaques|Deposit, Amyloid|Deposits, Amyloid|Neuritic Plaque|Neuritic Plaques|Plaque, Neuritic|Plaques, Amyloid|Plaque, Senile|Plaques, Neuritic|Plaques, Senile|Senile Plaque|Senile Plaques Pathology (anatomical condition) Plaque, Atherosclerotic MESH:D058226 Lesions formed within the walls of ARTERIES associated with deposits of fat and other substances that accumulate in the lining of the artery wall. MESH:D020763 C23.300.823 C23.300 Arterial Fatty Streak|Arterial Fatty Streaks|Atheroma|Atheromas|Atheromatous Plaque|Atheromatous Plaques|Atherosclerotic Plaque|Atherosclerotic Plaques|Fatty Streak, Arterial|Fibroatheroma|Fibroatheromas|Fibroatheromatous Plaque|Fibroatheromatous Plaques|Plaque, Atheromatous|Plaque, Fibroatheromatous|Streak, Arterial Fatty Pathology (anatomical condition) Plasmablastic Lymphoma MESH:D000069293 DO:DOID:0080779 Malignant lymphoma composed of large B lymphoid cells which have the immunophenotype of plasma cells and a predilection for the ORAL CAVITY. MESH:D016403 C04.557.386.480.150.585.500|C15.604.515.569.480.150.585.500|C20.683.515.761.480.150.585.500 C04.557.386.480.150.585|C15.604.515.569.480.150.585|C20.683.515.761.480.150.585 Lymphoma, Plasmablastic|Lymphomas, Plasmablastic|Plasmablastic Diffuse Large B cell Lymphoma|Plasmablastic Diffuse Large B-cell Lymphoma|Plasmablastic Lymphomas|Plasmablasts Diffuse Large B cell Lymphoma|Plasmablasts Diffuse Large B-cell Lymphoma Cancer|Immune system disease|Lymphatic disease Plasma Cell Granuloma, Pulmonary MESH:D016726 DO:DOID:3677 A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter. MESH:D008171 C08.381.600 C08.381 Granuloma, Plasma Cell, Pulmonary|Inflammatory Pseudotumor of Lung|Inflammatory Pseudotumor, Pulmonary|Inflammatory Pseudotumors, Pulmonary|Inflammatory Pulmonary Pseudotumor|Inflammatory Pulmonary Pseudotumors|Plasma Cell Granuloma of Lung|Pseudotumor, Inflammatory, Pulmonary|Pseudotumor, Pulmonary Inflammatory|Pulmonary Granuloma, Plasma Cell|Pulmonary Inflammatory Pseudotumor|Pulmonary Inflammatory Pseudotumors|Pulmonary Plasma Cell Granuloma|Pulmonary Pseudotumor, Inflammatory|Pulmonary Pseudotumors, Inflammatory Respiratory tract disease Plasma Clot Retraction Factor, Deficiency of MESH:C564885 MESH:D001778|MESH:D001796 C15.378.100/C564885|C15.378.147/C564885 C15.378.100|C15.378.147 Blood disease Plasmacytoma MESH:D010954 DO:DOID:3721 Any discrete, presumably solitary, mass of neoplastic PLASMA CELLS either in BONE MARROW or various extramedullary sites. MESH:D008232|MESH:D054219 C04.557.595.600|C20.683.515.880 C04.557.595|C20.683.515 Plasma Cell Tumor|Plasma Cell Tumors|Plasmacytomas|Plasmocytoma|Plasmocytomas|Tumor, Plasma Cell|Tumors, Plasma Cell Cancer|Immune system disease Plasmacytoma anaplastic MESH:C537514 MESH:D010954 C04.557.595.600/C537514|C20.683.515.880/C537514 C04.557.595.600|C20.683.515.880 Anaplastic skeletal plasmacytoma (type)|Anaplastic solitary extramedullary plasmacytoma of the cecum (type)|Extramedullary anaplastic plasmacytoma (type) Cancer|Immune system disease Plasminogen Activator Inhibitor-1 Deficiency MESH:C567640 OMIM:613329 MESH:D006474 C15.378.463/C567640 C15.378.463 Hyperfibrinolysis Due To Pai1 Deficiency Blood disease Plasminogen Deficiency, Type I MESH:C566897 DO:DOID:0111592|OMIM:217090 MESH:D003231|MESH:D012873 C11.187.183/C566897|C16.320.850/C566897|C17.800.827/C566897 C11.187.183|C16.320.850|C17.800.827 Dysplasminogenemia|DYSPLASMINOGENEMIA, INCLUDED|Ligneous Conjunctivitis|LIGNEOUS CONJUNCTIVITIS, INCLUDED|PLASMINOGEN DEFICIENCY, TYPE II, INCLUDED Eye disease|Genetic disease (inborn)|Skin disease PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL OMIM:248310 MESH:D008288 C01.610.752.530/248310|C01.920.875/248310 C01.610.752.530|C01.920.875 PFBI|PLASMODIUM FALCIPARUM PARASITEMIA Parasitic disease Platelet-Activating Factor Acetylhydrolase Deficiency MESH:C566640 OMIM:614278 MESH:D001249 C08.127.108/C566640|C08.381.495.108/C566640|C08.674.095/C566640|C20.543.480.680.095/C566640 C08.127.108|C08.381.495.108|C08.674.095|C20.543.480.680.095 PAFAD Immune system disease|Respiratory tract disease Platelet Aggregation, Spontaneous MESH:C566800 MESH:D001791 C15.378.140/C566800 C15.378.140 Blood disease Platelet Alpha-Delta Storage Pool Deficiency MESH:C566794 MESH:D010981 C15.378.100.685/C566794|C15.378.140.735/C566794|C15.378.463.735/C566794 C15.378.100.685|C15.378.140.735|C15.378.463.735 Blood disease Platelet Disorder, Familial, with Associated Myeloid Malignancy MESH:C563324 OMIM:601399 MESH:D001791|MESH:D015470|MESH:D025861 C04.557.337.539.275/C563324|C15.378.100.100/C563324|C15.378.140/C563324|C16.320.099/C563324 C04.557.337.539.275|C15.378.100.100|C15.378.140|C16.320.099 FPD/AML|FPDAML|FPDMM|Platelet Disorder, Aspirin-Like|Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia Blood disease|Cancer|Genetic disease (inborn) Platelet Disorder, Undefined MESH:C566799 MESH:D001791 C15.378.140/C566799 C15.378.140 Blood disease Platelet Factor 3 Deficiency MESH:C566798 MESH:D001791 C15.378.140/C566798 C15.378.140 Blood disease Platelet Glycoprotein IV Deficiency MESH:C564245 OMIM:608404 MESH:D001791|MESH:D030342 C15.378.140/C564245|C16.320/C564245 C15.378.140|C16.320 BDPLT10|BLEEDING DISORDER, PLATELET-TYPE, 10|CD36 Deficiency Blood disease|Genetic disease (inborn) Platelet granule deficiency disorder MESH:C531691 MESH:D055652 C15.378.140.427/C531691|C16.320.099.417/C531691 C15.378.140.427|C16.320.099.417 Blood disease|Genetic disease (inborn) Platelet Prostacyclin Receptor Defect MESH:C564884 MESH:D001791 C15.378.140/C564884 C15.378.140 Vienna-Hietzing Defect Blood disease Platelet Receptor for Collagen, Deficiency of MESH:C565999 MESH:D001791 C15.378.140/C565999 C15.378.140 Blood disease Platelet Signal Processing Defect MESH:C566796 MESH:D001791 C15.378.140/C566796 C15.378.140 Blood disease Platelet Storage Pool Deficiency MESH:D010981 DO:DOID:2223|OMIM:185050 Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored. MESH:D001778|MESH:D001791|MESH:D006474 C15.378.100.685|C15.378.140.735|C15.378.463.735 C15.378.100|C15.378.140|C15.378.463 Acquired Storage Pool Disease|Deficiencies, Storage Pool|Deficiency, Platelet Storage Pool|Deficiency, Storage Pool|Familial Platelet Storage Pool Disease|Platelet Storage Pool Deficiencies|Platelet Storage Pool Disease|Storage Pool Deficiencies|Storage Pool Deficiency|Storage Pool Deficiency, Platelet|Storage Pool Platelet Disease Blood disease Platybasia MESH:D010985 A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed) MESH:D001848|MESH:D013122|MESH:D019465 C05.116.099.742|C05.116.900.540|C05.660.207.720|C16.131.621.207.720 C05.116.099|C05.116.900|C05.660.207|C16.131.621.207 Basilar Impression|Basilar Impressions|Impression, Basilar|Impressions, Basilar|Platybasias Congenital abnormality|Musculoskeletal disease Platypnea Orthodeoxia Syndrome MESH:D000092129 Orthostatic dyspnea and fall of oxygen blood saturation when standing up which regress by assuming lying position. MESH:D000860|MESH:D004417 C08.618.326.698|C23.888.852.079.898|C23.888.852.371.698 C08.618.326|C23.888.852.079|C23.888.852.371 Orthodeoxia|Orthodeoxias|Orthodeoxia Syndrome, Platypnea|Orthodeoxia Syndromes, Platypnea|Platypnea-Orthodeoxia Syndrome|Platypnea-Orthodeoxia Syndrome, POS|Platypnea Orthodeoxia Syndromes|Platypnea-Orthodeoxia Syndromes|POS Platypnea Orthodeoxia Syndrome|POS Platypnea-Orthodeoxia Syndrome|POS Platypnea-Orthodeoxia Syndromes|Syndrome, Platypnea Orthodeoxia|Syndrome, Platypnea-Orthodeoxia|Syndrome, POS Platypnea-Orthodeoxia Respiratory tract disease|Signs and symptoms Platyspondylic Lethal Skeletal Dysplasia, Torrance Type MESH:C563627 DO:DOID:0111508|OMIM:151210 MESH:D013796 C05.116.099.343.110.500/C563627|C05.116.099.708.017.500/C563627|C05.660.585.984/C563627|C16.131.621.585.984/C563627|C16.320.240.500.500/C563627|C16.614.890/C563627 C05.116.099.343.110.500|C05.116.099.708.017.500|C05.660.585.984|C16.131.621.585.984|C16.320.240.500.500|C16.614.890 Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type|Platyspondylic Chondrodysplasia, Torrance-Luton Type|Platyspondylic Lethal Skeletal Dysplasia, Luton Type|Platyspondylic Skeletal Dysplasia, Torrance Type|PLSDL, INCLUDED|PLSD-T|PLSDT|PLSD-TL|Thanatophoric Dysplasia, Luton Variant|THANATOPHORIC DYSPLASIA, LUTON VARIANT, INCLUDED|Thanatophoric Dysplasia, Torrance Variant|THANATOPHORIC DYSPLASIA, TORRANCE VARIANT PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease Pleoconial Myopathy with Salt Craving MESH:C564883 MESH:D020914 C05.651.575/C564883|C10.668.491.550/C564883 C05.651.575|C10.668.491.550 Musculoskeletal disease|Nervous system disease Pleural Diseases MESH:D010995 DO:DOID:1532 Diseases involving the PLEURA. MESH:D012140 C08.528 C08 Disease, Pleural|Diseases, Pleural|Pleural Disease Respiratory tract disease Pleural Effusion MESH:D010996 Presence of fluid in the pleural cavity resulting from excessive transudation or exudation from the pleural surfaces. It is a sign of disease and not a diagnosis in itself. MESH:D010995 C08.528.652 C08.528 Effusion, Pleural|Effusions, Pleural|Pleural Effusions Respiratory tract disease Pleural Effusion, Malignant MESH:D016066 Presence of fluid in the PLEURAL CAVITY as a complication of malignant disease. Malignant pleural effusions often contain actual malignant cells. MESH:D010996|MESH:D010997 C04.588.894.797.640.700|C08.528.652.700|C08.528.694.700|C08.785.640.700 C04.588.894.797.640|C08.528.652|C08.528.694|C08.785.640 Effusion, Malignant Pleural|Effusions, Malignant Pleural|Malignant Pleural Effusion|Malignant Pleural Effusions|Pleural Effusions, Malignant Cancer|Respiratory tract disease Pleural Neoplasms MESH:D010997 DO:DOID:5158 Neoplasms of the thin serous membrane that envelopes the lungs and lines the thoracic cavity. Pleural neoplasms are exceedingly rare and are usually not diagnosed until they are advanced because in the early stages they produce no symptoms. MESH:D010995|MESH:D012142 C04.588.894.797.640|C08.528.694|C08.785.640 C04.588.894.797|C08.528|C08.785 Neoplasm, Pleural|Neoplasms, Pleural|Pleural Neoplasm Cancer|Respiratory tract disease Pleurisy MESH:D010998 INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN. MESH:D010995|MESH:D012141 C01.748.582|C08.528.735|C08.730.582 C01.748|C08.528|C08.730 Pleurisies|Pleuritides|Pleuritis Respiratory tract disease Pleurodynia, Epidemic MESH:D011000 DO:DOID:10882 An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses. MESH:D003384 C01.925.782.687.359.213.737 C01.925.782.687.359.213 Bornholm Disease|Epidemic Myalgia|Epidemic Myalgias|Epidemic Pleurodynia|Epidemic Pleurodynias|Myalgia, Epidemic|Myalgias, Epidemic|Pleurodynias, Epidemic Viral disease Pleuropneumonia MESH:D011001 DO:DOID:14319 Inflammation of the lung parenchyma that is associated with PLEURISY, inflammation of the PLEURA. MESH:D010998|MESH:D011014 C01.748.582.473|C01.748.610.473|C08.381.677.473|C08.528.735.473|C08.730.582.473|C08.730.610.473 C01.748.582|C01.748.610|C08.381.677|C08.528.735|C08.730.582|C08.730.610 Pleuropneumonias Respiratory tract disease Pleuropneumonia, Contagious MESH:D011002 A pleuropneumonia of cattle and goats caused by species of MYCOPLASMA. MESH:D000820|MESH:D009175 C01.150.252.400.610.610.717|C22.717 C01.150.252.400.610.610|C22 Contagious Pleuropneumonia|Contagious Pleuropneumonias|Pleuropneumonias, Contagious Animal disease|Bacterial infection or mycosis Pleuropulmonary blastoma MESH:C537516 DO:DOID:4769|OMIM:601200 MESH:D018202 C04.557.435.675/C537516|C04.588.894.797.520.867/C537516 C04.557.435.675|C04.588.894.797.520.867 PPB|PPB FAMILIAL TUMOR AND DYSPLASIA SYNDROME|PPBFTDS Cancer Plexosarcoma MESH:C537517 MESH:D001342|MESH:D012509|MESH:D046152 C04.557.450.565.370/C537517|C04.557.450.795/C537517|C06.301.371.308/C537517|C06.405.249.308/C537517|C10.177/C537517 C04.557.450.565.370|C04.557.450.795|C06.301.371.308|C06.405.249.308|C10.177 Gastrointestinal autonomic nerve tumor Cancer|Digestive system disease|Nervous system disease Plummer-Vinson Syndrome MESH:D011004 A syndrome of DYSPHAGIA with IRON-DEFICIENCY ANEMIA that is due to congenital anomalies in the ESOPHAGUS (such as cervical esophageal webs). It is known as Patterson-Kelly syndrome in the United Kingdom. MESH:D015154 C06.405.117.119.500.742 C06.405.117.119.500 Kelly's Syndrome|Kellys Syndrome|Kelly Syndrome|Patterson Brown Kelly Syndrome|Patterson-Brown-Kelly Syndrome|Patterson Kelly Syndrome|Patterson-Kelly Syndrome|Patterson's Syndrome|Pattersons Syndrome|Patterson Syndrome|Plummer Vinson Syndrome|Syndrome, Kelly's|Syndrome, Patterson-Brown-Kelly|Syndrome, Patterson-Kelly|Syndrome, Patterson's|Syndrome, Plummer Vinson|Syndrome, Plummer-Vinson Digestive system disease Pneumatosis Cystoides Intestinalis MESH:D011006 DO:DOID:13249 A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM. MESH:D007410 C06.405.469.778 C06.405.469 Cystoides Intestinalis, Pneumatosis|Intestinalis, Pneumatosis Cystoides Digestive system disease Pneumocephalus MESH:D011007 Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions. MESH:D001930|MESH:D002493 C10.228.140.199.700|C10.228.806|C10.900.300.087.700|C26.915.300.200.650 C10.228|C10.228.140.199|C10.900.300.087|C26.915.300.200 Airocele, Cranial|Airoceles, Cranial|Cranial Airocele|Cranial Airoceles|Cranial Pneumocyst|Cranial Pneumocysts|Epidural Pneumocephalus|Gas, Intracranial|Intracranial Gas|Pneumocephalus, Epidural|Pneumocephalus, Pressure|Pneumocephalus, Tension|Pneumocephalus, Traumatic|Pneumocyst, Cranial|Pneumocysts, Cranial|Pressure Pneumocephalus|Tension Pneumocephalus|Traumatic Pneumocephalus Nervous system disease|Wounds and injuries Pneumococcal Infections MESH:D011008 Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE. MESH:D013290 C01.150.252.410.890.670 C01.150.252.410.890 Disease, Pneumococcal|Diseases, Pneumococcal|Infection, Pneumococcal|Infections, Pneumococcal|Infections, Streptococcus pneumoniae|Infection, Streptococcus pneumoniae|Pneumococcal Disease|Pneumococcal Diseases|Pneumococcal Infection|Streptococcus pneumoniae Infection|Streptococcus pneumoniae Infections Bacterial infection or mycosis Pneumoconiosis MESH:D011009 DO:DOID:10316|DO:DOID:12522 A diffuse parenchymal lung disease caused by inhalation of dust and by tissue reaction to their presence. These inorganic, organic, particulate, or vaporized matters usually are inhaled by workers in their occupational environment, leading to the various forms (ASBESTOSIS; BYSSINOSIS; and others). Similar air pollution can also have deleterious effects on the general population. MESH:D009784|MESH:D017563|MESH:D055370 C08.381.483.581|C08.381.520.702|C24.800 C08.381.483|C08.381.520|C24 Bagassosis|Pneumoconioses Occupational disease|Respiratory tract disease Pneumocystis Infections MESH:D016720 Infections with species in the genus PNEUMOCYSTIS, a fungus causing interstitial plasma cell pneumonia (PNEUMONIA, PNEUMOCYSTIS) and other infections in humans and other MAMMALS. Immunocompromised patients, especially those with AIDS, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally. MESH:D009181 C01.150.703.770 C01.150.703 Infection, P carinii|Infection, P. carinii|Infection, P jirovecii|Infection, P. jirovecii|Infection, Pneumocystis|Infection, Pneumocystis jirovecii|P carinii Infection|P. carinii Infection|P carinii Infections|P. carinii Infections|P jirovecii Infection|P. jirovecii Infection|P jirovecii Infections|P. jirovecii Infections|Pneumocystis carinii Infection|Pneumocystis carinii Infections|Pneumocystis Infection|Pneumocystis jirovecii Infection|Pneumocystis jirovecii Infections Bacterial infection or mycosis Pneumonia MESH:D011014 DO:DOID:552 Infection of the lung often accompanied by inflammation. MESH:D008171|MESH:D012141 C01.748.610|C08.381.677|C08.730.610 C01.748|C08.381|C08.730 Experimental Lung Inflammation|Experimental Lung Inflammations|Inflammation, Experimental Lung|Inflammation, Lung|Inflammation, Pulmonary|Inflammations, Lung|Inflammations, Pulmonary|Lobar Pneumonia|Lobar Pneumonias|Lung Inflammation|Lung Inflammation, Experimental|Lung Inflammations|Lung Inflammations, Experimental|Pneumonia, Lobar|Pneumonias|Pneumonias, Lobar|Pneumonitides|Pneumonitis|Pulmonary Inflammation|Pulmonary Inflammations Respiratory tract disease Pneumonia, Aspiration MESH:D011015 DO:DOID:0050152|DO:DOID:3240 A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT. MESH:D011014 C01.748.610.529|C08.381.677.529|C08.730.610.529 C01.748.610|C08.381.677|C08.730.610 Acid Aspiration Syndrome|Acid Aspiration Syndromes|Aspiration Pneumonia|Aspiration Pneumonias|Gastric Acid Aspiration Syndrome|Mendelson's Syndrome|Mendelsons Syndrome|Mendelson Syndrome|Pneumonias, Aspiration|Syndrome, Acid Aspiration|Syndrome, Mendelson|Syndrome, Mendelson's|Syndromes, Acid Aspiration Respiratory tract disease Pneumonia, Atypical Interstitial, of Cattle MESH:D011016 A cattle disease of uncertain cause, probably an allergic reaction. MESH:D002418 C22.196.706 C22.196 Adenomatoses, Bovine Pulmonary|Adenomatosis, Bovine Pulmonary|Adenomatosis, Pulmonary, Bovine|Atypical Interstitial Pneumonia of Cattle|Bovine Pulmonary Adenomatoses|Bovine Pulmonary Adenomatosis|Emphysema, Acute Bovine Pulmonary|Fever, Fog|Fog Fever|Pulmonary Adenomatoses, Bovine|Pulmonary Adenomatosis, Bovine Animal disease Pneumonia, Bacterial MESH:D018410 DO:DOID:874 Inflammation of the lung parenchyma that is caused by bacterial infections. MESH:D001424|MESH:D011014 C01.150.252.620|C01.748.610.540|C08.381.677.540|C08.730.610.540 C01.150.252|C01.748.610|C08.381.677|C08.730.610 Bacterial Pneumonia|Bacterial Pneumonias|Pneumonias, Bacterial Bacterial infection or mycosis|Respiratory tract disease Pneumonia, Lipid MESH:D011017 DO:DOID:3241 Pneumonia due to aspiration or inhalation of various oily or fatty substances or otherwise accumulation of endogenous lipid substances in the PULMONARY ALVEOLI. MESH:D011015 C01.748.610.529.612|C08.381.677.529.612|C08.730.610.529.612 C01.748.610.529|C08.381.677.529|C08.730.610.529 Endogenous Lipid Pneumonia|Endogenous Lipid Pneumonias|Endogenous Lipoid Pneumonia|Endogenous Lipoid Pneumonias|Exogenous Lipid Pneumonia|Exogenous Lipid Pneumonias|Exogenous Lipoid Pneumonia|Exogenous Lipoid Pneumonias|Lipid Pneumonia|Lipid Pneumonia, Endogenous|Lipid Pneumonia, Exogenous|Lipid Pneumonias|Lipoid Pneumonia|Lipoid Pneumonia, Endogenous|Lipoid Pneumonia, Exogenous|Lipoid Pneumonias|Pneumonia, Endogenous Lipid|Pneumonia, Endogenous Lipoid|Pneumonia, Exogenous Lipid|Pneumonia, Exogenous Lipoid|Pneumonia, Lipoid Respiratory tract disease Pneumonia, Mycoplasma MESH:D011019 DO:DOID:13276 Interstitial pneumonia caused by extensive infection of the lungs (LUNG) and BRONCHI, particularly the lower lobes of the lungs, by MYCOPLASMA PNEUMONIAE in humans. In SHEEP, it is caused by MYCOPLASMA OVIPNEUMONIAE. In CATTLE, it may be caused by MYCOPLASMA DISPAR. MESH:D009175|MESH:D018410 C01.150.252.400.610.610.760|C01.150.252.620.500|C01.748.610.540.545|C08.381.677.540.500|C08.730.610.540.545 C01.150.252.400.610.610|C01.150.252.620|C01.748.610.540|C08.381.677.540|C08.730.610.540 Atypical Pneumonia, Primary|Atypical Pneumonias, Primary|Mycoplasma dispar Infection|Mycoplasma dispar Infections|Mycoplasma ovipneumoniae Infection|Mycoplasma ovipneumoniae Infections|Mycoplasma Pneumonia|Mycoplasma pneumoniae Infection|Mycoplasma pneumoniae Infections|Mycoplasma Pneumonias|Pneumonia, Primary Atypical|Pneumonias, Mycoplasma|Pneumonias, Primary Atypical|Primary Atypical Pneumonia|Primary Atypical Pneumonias Bacterial infection or mycosis|Respiratory tract disease Pneumonia, Necrotizing MESH:D000071067 Severe complication of pneumonia characterized by liquefaction of lung tissue. MESH:D011014 C01.748.610.608|C08.381.677.608|C08.730.610.608 C01.748.610|C08.381.677|C08.730.610 Necrotizing Pneumonia|Necrotizing Pneumonias|Pneumonias, Necrotizing Respiratory tract disease Pneumonia of Calves, Enzootic MESH:D048089 Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with PASTEURELLA MULTOCIDA producing a purulent BRONCHOPNEUMONIA. Sometimes present are MANNHEIMIA HAEMOLYTICA; HAEMOPHILUS SOMNUS and mycoplasma species. MESH:D018410|MESH:D048090 C01.150.252.620.300|C01.748.085.630|C01.748.610.540.530|C08.381.677.540.300|C08.730.085.630|C08.730.610.540.530|C22.196.090.675 C01.150.252.620|C01.748.085|C01.748.610.540|C08.381.677.540|C08.730.085|C08.730.610.540|C22.196.090 Calf Pneumonia, Enzootic|Enzootic Calf Pneumonia|Enzootic Calf Pneumonias|Enzootic Pneumonia of Calves|Pneumonia, Enzootic Calf|Pneumonias, Enzootic Calf Animal disease|Bacterial infection or mycosis|Respiratory tract disease Pneumonia of Swine, Mycoplasmal MESH:D045729 A chronic, clinically mild, infectious pneumonia of PIGS caused by MYCOPLASMA HYOPNEUMONIAE. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. PASTEURELLA MULTOCIDA is often found as a secondary infection. MESH:D013553|MESH:D018410 C01.150.252.620.330|C01.748.610.540.540|C08.381.677.540.400|C08.730.610.540.540|C22.905.626 C01.150.252.620|C01.748.610.540|C08.381.677.540|C08.730.610.540|C22.905 Enzootic Pneumonia of Pigs|Enzootic Pneumonia of Swine|Mycoplasmal Pneumonia of Swine|Mycoplasma Pneumonia of Pigs|Mycoplasma Pneumonia of Swine|Pneumonia of Swine, Enzootic|Swine Enzootic Pneumonia|Swine Mycoplasmal Pneumonia|Swine Mycoplasma Pneumonia Animal disease|Bacterial infection or mycosis|Respiratory tract disease Pneumonia, Pneumococcal MESH:D011018 A febrile disease caused by STREPTOCOCCUS PNEUMONIAE. MESH:D011008|MESH:D018410 C01.150.252.410.890.670.750|C01.150.252.620.550|C01.748.610.540.550|C08.381.677.540.550|C08.730.610.540.550 C01.150.252.410.890.670|C01.150.252.620|C01.748.610.540|C08.381.677.540|C08.730.610.540 Pneumococcal Pneumonia|Pneumococcal Pneumonias|Pneumonias, Pneumococcal Bacterial infection or mycosis|Respiratory tract disease Pneumonia, Pneumocystis MESH:D011020 DO:DOID:11339 A pulmonary disease in humans occurring in immunodeficient or malnourished patients or infants, characterized by DYSPNEA, tachypnea, and HYPOXEMIA. Pneumocystis pneumonia is a frequently seen opportunistic infection in AIDS. It is caused by the fungus PNEUMOCYSTIS JIROVECII. The disease is also found in other MAMMALS where it is caused by related species of Pneumocystis. MESH:D008172|MESH:D011014|MESH:D016720 C01.150.703.534.700|C01.150.703.770.700|C01.748.435.700|C01.748.610.675|C08.381.472.700|C08.381.677.675|C08.730.435.700|C08.730.610.675 C01.150.703.534|C01.150.703.770|C01.748.435|C01.748.610|C08.381.472|C08.381.677|C08.730.435|C08.730.610 Infection, PCP|P carinii Pneumonia|P. carinii Pneumonia|P carinii Pneumonias|P. carinii Pneumonias|PCP Infection|PCP Infections|PCP Pneumonia|PCP Pneumonias|P. jirovecii Pneumonia|P. jirovecii Pneumonias|Pneumocystis carinii Pneumonia|Pneumocystis jirovecii Pneumonia|Pneumocystis Pneumonia|Pneumocystis Pneumonias|Pneumocystoses|Pneumocystosis|Pneumonia, Interstitial Plasma Cell|Pneumonia, P carinii|Pneumonia, P. carinii|Pneumonia, PCP|Pneumonia, P. jirovecii|Pneumonia, Pneumocystis carinii|Pneumonia, Pneumocystis jirovecii|Pneumonias, PCP Bacterial infection or mycosis|Respiratory tract disease Pneumonia, Progressive Interstitial, of Sheep MESH:D011021 Chronic respiratory disease caused by the VISNA-MAEDI VIRUS. It was formerly believed to be identical with jaagsiekte (PULMONARY ADENOMATOSIS, OVINE) but is now recognized as a separate entity. MESH:D012757|MESH:D012897|MESH:D016180 C01.925.782.815.616.660|C01.925.839.660|C22.836.660 C01.925.782.815.616|C01.925.839|C22.836 Maedi|Progressive Interstitial Pneumonia of Sheep Animal disease|Viral disease Pneumonia, Rickettsial MESH:D011022 Pneumonia caused by infection with bacteria of the family RICKETTSIACEAE. MESH:D012288|MESH:D018410 C01.150.252.400.789.600|C01.748.610.540.600|C01.920.914.600|C08.381.677.540.600|C08.730.610.540.600 C01.150.252.400.789|C01.748.610.540|C01.920.914|C08.381.677.540|C08.730.610.540 Pneumonias, Rickettsial|Rickettsial Pneumonia|Rickettsial Pneumonias Bacterial infection or mycosis|Respiratory tract disease Pneumonia, Staphylococcal MESH:D011023 Pneumonia caused by infections with bacteria of the genus STAPHYLOCOCCUS, usually with STAPHYLOCOCCUS AUREUS. MESH:D013203|MESH:D018410 C01.150.252.410.868.675|C01.150.252.620.620|C01.748.610.540.620|C08.381.677.540.620|C08.730.610.540.620 C01.150.252.410.868|C01.150.252.620|C01.748.610.540|C08.381.677.540|C08.730.610.540 Pneumonias, Staphylococcal|Pneumonias, Staphylococcus Aureus|Pneumonia, Staphylococcus Aureus|Staphylococcal Pneumonia|Staphylococcal Pneumonias|Staphylococcus Aureus Pneumonia|Staphylococcus Aureus Pneumonias Bacterial infection or mycosis|Respiratory tract disease Pneumonia, Ventilator-Associated MESH:D053717 Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by bacterial CROSS INFECTION in hospitals. MESH:D000077299 C01.248.250.500|C01.748.610.300.500|C08.381.677.300.500|C08.730.610.300.500|C23.550.291.875.500.500.500 C01.248.250|C01.748.610.300|C08.381.677.300|C08.730.610.300|C23.550.291.875.500.500 Ventilator-Associated Pneumonia Pathology (process)|Respiratory tract disease Pneumonia, Viral MESH:D011024 DO:DOID:10533 Inflammation of the lung parenchyma that is caused by a viral infection. MESH:D011014|MESH:D014777 C01.748.610.763|C01.925.705|C08.381.677.807|C08.730.610.763 C01.748.610|C01.925|C08.381.677|C08.730.610 Pneumonias, Viral|Viral Pneumonia|Viral Pneumonias Respiratory tract disease|Viral disease Pneumopericardium MESH:D011026 Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins. MESH:D006331 C14.280.763 C14.280 Pneumopericardiums Cardiovascular disease Pneumoperitoneum MESH:D011027 A condition with trapped gas or air in the PERITONEAL CAVITY, usually secondary to perforation of the internal organs such as the LUNG and the GASTROINTESTINAL TRACT, or to recent surgery. Pneumoperitoneum may be purposely introduced to aid radiological examination. MESH:D010532 C06.844.670 C06.844 Digestive system disease Pneumorrhachis MESH:D063205 Presence of air or gas within the spinal canal cavity (EPIDURAL SPACE; or SUBARACHNOID SPACE). It may result from traumatic injuries, emphysema, infection and other conditions. It can also develop as a complication of various SURGICAL PROCEDURES (e.g., MYELOGRAPHY). MESH:D013118 C10.228.854.583 C10.228.854 Epidural Pneumorrhachi|Epidural Pneumorrhachis|Pneumorrhachi|Pneumorrhachi, Epidural|Pneumorrhachis, Epidural|Pneumorrhachis, Subarachnoid|Pneumorrhachi, Subarachnoid|Subarachnoid Pneumorrhachi|Subarachnoid Pneumorrhachis Nervous system disease Pneumothorax MESH:D011030 OMIM:173600 An accumulation of air or gas in the PLEURAL CAVITY, which may occur spontaneously or as a result of trauma or a pathological process. The gas may also be introduced deliberately during PNEUMOTHORAX, ARTIFICIAL. MESH:D010995 C08.528.778 C08.528 Pneumothorax, Pressure|Pneumothorax, Primary Spontaneous|Pneumothorax, Spontaneous|Pneumothorax, Tension|Pressure Pneumothorax|Primary Spontaneous Pneumothorax|PSP|Spontaneous Pneumothorax|Spontaneous Pneumothorax, Primary|Tension Pneumothorax Respiratory tract disease Pneumovirus Infections MESH:D018186 Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans. MESH:D018184 C01.925.782.580.600.550 C01.925.782.580.600 Infection, Pneumovirus|Infections, Pneumovirus|Pneumovirus Infection Viral disease Podder-Tolmie syndrome MESH:C537518 MESH:D000015|MESH:D001176|MESH:D004677 C05.550.150/C537518|C05.651.102/C537518|C05.660.077/C537518|C10.500.680.488/C537518|C16.131.077/C537518|C16.131.621.077/C537518|C16.131.666.680.488/C537518|C23.300.707.186/C537518 C05.550.150|C05.651.102|C05.660.077|C10.500.680.488|C16.131.077|C16.131.621.077|C16.131.666.680.488|C23.300.707.186 Meningoencephalocele, arthrogryposis and hypoplastic thumbs Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) POEMS Syndrome MESH:D016878 DO:DOID:14039 A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62) MESH:D000015|MESH:D010265|MESH:D011115 C10.668.829.800.700|C15.378.147.780.750|C16.131.077.703|C20.683.780.750 C10.668.829.800|C15.378.147.780|C16.131.077|C20.683.780 Crow Fukase Syndrome|Crow-Fukase Syndrome|Organomegalies, Polyneuropathy|Organomegaly, Polyneuropathy|Polyneuropathy Organomegalies|Polyneuropathy Organomegaly|Polyneuropathy, Organomegaly, Endocrinopathy, M Protein, and Skin Changes Syndrome|Syndrome, Crow-Fukase|Syndrome, POEMS|Syndrome, Takatsuki's|Takatsuki's Syndrome|Takatsuki Syndrome Blood disease|Congenital abnormality|Immune system disease|Nervous system disease Poikiloderma, Hereditary Sclerosing MESH:C562824 MESH:D012598|MESH:D012868|MESH:D012873 C16.131.831/C562824|C16.320.850/C562824|C17.800.804/C562824|C17.800.827/C562824|C23.550.823/C562824 C16.131.831|C16.320.850|C17.800.804|C17.800.827|C23.550.823 Congenital abnormality|Genetic disease (inborn)|Pathology (process)|Skin disease Poikiloderma of Kindler MESH:C536321 DO:DOID:0060472|OMIM:173650 MESH:D001768|MESH:D004820|MESH:D010510|MESH:D010787 C07.465.714/C536321|C16.131.831.493/C536321|C16.320.850.275/C536321|C17.800.600/C536321|C17.800.804.493/C536321|C17.800.827.275/C536321|C17.800.865.187/C536321|C17.800.865.410/C536321|C23.300.122/C536321 C07.465.714|C16.131.831.493|C16.320.850.275|C17.800.600|C17.800.804.493|C17.800.827.275|C17.800.865.187|C17.800.865.410|C23.300.122 Bullous acrokeratotic poikiloderma of kindler and weary|Congenital bullous poikiloderma|Kindler syndrome|KNDLRS|Poikiloderma, congenital, with bullae, weary type|Poikiloderma, hereditary acrokeratotic Congenital abnormality|Genetic disease (inborn)|Mouth disease|Pathology (anatomical condition)|Skin disease Poikiloderma with Neutropenia MESH:C565820 DO:DOID:0060551|OMIM:604173 MESH:D009503|MESH:D012868 C15.378.553.546.184.564/C565820|C16.131.831/C565820|C17.800.804/C565820 C15.378.553.546.184.564|C16.131.831|C17.800.804 PN|Poikiloderma with Neutropenia, Clericuzio-Type Blood disease|Congenital abnormality|Skin disease Pointer syndrome MESH:C536323 MESH:D000015|MESH:D001068|MESH:D001848|MESH:D017880|MESH:D019465 C05.116.099/C536323|C05.660.207/C536323|C05.660.585/C536323|C16.131.077/C536323|C16.131.621.207/C536323|C16.131.621.585/C536323|F03.400/C536323 C05.116.099|C05.660.207|C05.660.585|C16.131.077|C16.131.621.207|C16.131.621.585|F03.400 Skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties Congenital abnormality|Mental disorder|Musculoskeletal disease Poisoning MESH:D011041 A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent. MESH:D064419 C25.723 C25 Poisonings Poland Syndrome MESH:D011045 DO:DOID:12961 A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major. MESH:D013576 C05.116.099.370.894.819.756|C05.660.585.800.756|C05.660.906.819.756|C16.131.621.585.800.756|C16.131.621.906.819.756 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 Anomaly, Poland|Poland Anomaly|Poland Sequence|Poland Syndactyly|Syndactyly, Poland|Syndrome, Poland Congenital abnormality|Musculoskeletal disease Poliomyelitis MESH:D011051 DO:DOID:4953 An acute infectious disease of humans, particularly children, caused by any of three serotypes of human poliovirus (POLIOVIRUS). Usually the infection is limited to the gastrointestinal tract and nasopharynx, and is often asymptomatic. The central nervous system, primarily the spinal cord, may be affected, leading to rapidly progressive paralysis, coarse FASCICULATION and hyporeflexia. Motor neurons are primarily affected. Encephalitis may also occur. The virus replicates in the nervous system, and may cause significant neuronal loss, most notably in the spinal cord. A rare related condition, nonpoliovirus poliomyelitis, may result from infections with nonpoliovirus enteroviruses. (From Adams et al., Principles of Neurology, 6th ed, pp764-5) MESH:D004769|MESH:D009187|MESH:D009468 C01.207.618.750|C01.925.782.687.359.764|C10.228.228.618.750|C10.228.854.525.850|C10.586.750.850|C10.668.864 C01.207.618|C01.925.782.687.359|C10.228.228.618|C10.228.854.525|C10.586.750|C10.668 Acute Poliomyelitis|Acute Poliomyelitis, Epidemic|Encephalitis, Polio|Epidemic Acute Poliomyelitis|Infantile Paralysis|Infection, Poliomyelitis|Infections, Poliomyelitis|Nonpoliovirus Poliomyelitis|Paralysis, Infantile|Polio|Polio Encephalitis|Poliomyelitides, Preparalytic|Poliomyelitis, Acute|Poliomyelitis, Epidemic Acute|Poliomyelitis Infection|Poliomyelitis Infections|Poliomyelitis, Nonpoliovirus|Poliomyelitis, Preparalytic|Polios|Preparalytic Poliomyelitis Nervous system disease|Viral disease Poliomyelitis, Bulbar MESH:D011052 DO:DOID:9786 A form of paralytic poliomyelitis affecting neurons of the MEDULLA OBLONGATA of the brain stem. Clinical features include impaired respiration, HYPERTENSION, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765) MESH:D011051 C01.207.618.750.500|C01.925.782.687.359.764.614|C10.228.228.618.750.500|C10.228.854.525.850.500|C10.586.750.850.500|C10.668.864.250 C01.207.618.750|C01.925.782.687.359.764|C10.228.228.618.750|C10.228.854.525.850|C10.586.750.850|C10.668.864 Bulbar Polio|Bulbar Poliomyelitis|Medullary Involvement Poliomyelitis|Polio, Bulbar|Poliomyelitis, Medullary Involvement Nervous system disease|Viral disease Polyarteritis Nodosa MESH:D010488 DO:DOID:9810 A form of necrotizing non-granulomatous inflammation occurring primarily in medium-sized ARTERIES, often with microaneurysms. It is characterized by muscle, joint, and abdominal pain resulting from arterial infarction and scarring in affected organs. Polyarteritis nodosa with lung involvement is called CHURG-STRAUSS SYNDROME. MESH:D001167|MESH:D017445|MESH:D056647 C14.907.940.090.720|C14.907.940.897.500|C17.800.862.625 C14.907.940.090|C14.907.940.897|C17.800.862 Arteritides, Necrotizing|Arteritis, Necrotizing|Essential Polyarteritides|Essential Polyarteritis|Necrotizing Arteritides|Necrotizing Arteritis|Periarteritis Nodosa|Polyarteritides, Essential|Polyarteritis, Essential Cardiovascular disease|Skin disease Polyasplenia MESH:C566862 MESH:D059446 C14.240.400.592/C566862|C14.280.400.592/C566862|C15.604.744.146/C566862|C16.131.077.401/C566862|C16.131.240.400.592/C566862 C14.240.400.592|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.592 Asplenia with Cardiovascular Abnormalities Cardiovascular disease|Congenital abnormality|Lymphatic disease Polychondritis, Relapsing MESH:D011081 DO:DOID:2556 An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction. MESH:D002357 C05.182.531|C17.300.182.531 C05.182|C17.300.182 Atrophic Polychondritides, Chronic|Atrophic Polychondritis, Chronic|Chronic Atrophic Polychondritides|Chronic Atrophic Polychondritis|Polychondritides, Chronic Atrophic|Polychondritides, Relapsing|Polychondritis, Chronic Atrophic|Relapsing Polychondritides|Relapsing Polychondritis Connective tissue disease|Musculoskeletal disease Polycystic bone disease MESH:C536324 MESH:D001845 C04.182.089/C536324|C05.116.070/C536324 C04.182.089|C05.116.070 Cancer|Musculoskeletal disease Polycystic Kidney, Autosomal Dominant MESH:D016891 OMIM:600666|OMIM:613095 Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function. MESH:D007690 C12.050.351.968.419.403.875.500|C12.200.777.419.403.875.500|C12.950.419.403.875.500|C16.131.077.717.500|C16.320.184.625.500 C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.717|C16.320.184.625 ADPKD|Adult Polycystic Kidney Disease|Adult Polycystic Kidney Disease Type 1|Adult Polycystic Kidney Disease Type 2|APKD2|APKD3|Autosomal Dominant Polycystic Kidney|Kidney, Polycystic, Autosomal Dominant|PKD2|PKD3|Polycystic Kidney Disease 2|POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE|POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE|Polycystic Kidney Disease, Adult|Polycystic Kidney Disease, Adult Type 2|Polycystic Kidney Disease, Adult, Type II|POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III|Polycystic Kidney Disease, Autosomal Dominant|Polycystic Kidney Disease, Type 2|Polycystic Kidney, Type 1 Autosomal Dominant Disease|Polycystic Kidney, Type 2 Autosomal Dominant Disease Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Polycystic Kidney, Autosomal Recessive MESH:D017044 DO:DOID:0110861|OMIM:263200 A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY. MESH:D007690 C12.050.351.968.419.403.875.510|C12.200.777.419.403.875.510|C12.950.419.403.875.510|C16.131.077.717.510|C16.320.184.625.510 C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.717|C16.320.184.625 ARPKD|Autosomal Recessive Polycystic Kidney|Autosomal Recessive Polycystic Kidney Disease|Kidney, Polycystic, Autosomal Recessive|PKD3, FORMERLY HEPATIC FIBROSIS, CONGENITAL, INCLUDED|PKD4|PKHD1|Polycystic Kidney and Hepatic Disease 1|Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)|POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE|POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE|Polycystic Kidney Disease, Autosomal Recessive|Polycystic Kidney Disease, Infantile, Type 1|Polycystic Kidney Disease, Infantile, Type I Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Polycystic Kidney, Cataract, and Congenital Blindness MESH:C564882 MESH:D001766|MESH:D002386|MESH:D007690 C10.597.751.941.162/C564882|C11.510.245/C564882|C11.966.075/C564882|C12.050.351.968.419.403.875/C564882|C12.200.777.419.403.875/C564882|C12.950.419.403.875/C564882|C16.131.077.717/C564882|C16.320.184.625/C564882|C23.888.592.763.941.162/C564882 C10.597.751.941.162|C11.510.245|C11.966.075|C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.717|C16.320.184.625|C23.888.592.763.941.162 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia MESH:C564881 OMIM:263210 MESH:D000015|MESH:D003398|MESH:D004480|MESH:D006972|MESH:D017044 C05.116.099.370.231.480/C564881|C05.116.099.370.894.232/C564881|C05.660.207.231.480/C564881|C05.660.207.240/C564881|C05.660.585.350/C564881|C05.660.906.364/C564881|C12.050.351.968.419.403.875.510/C564881|C12.200.777.419.403.875.510/C564881|C12.950.419.403.875.510/C564881|C16.131.077.717.510/C564881|C16.131.077/C564881|C16.131.621.207.231.480/C564881|C16.131.621.207.240/C564881|C16.131.621.585.350/C564881|C16.131.621.906.364/C564881|C16.320.184.625.510/C564881 C05.116.099.370.231.480|C05.116.099.370.894.232|C05.660.207.231.480|C05.660.207.240|C05.660.585.350|C05.660.906.364|C12.050.351.968.419.403.875.510|C12.200.777.419.403.875.510|C12.950.419.403.875.510|C16.131.077|C16.131.077.717.510|C16.131.621.207.231.480|C16.131.621.207.240|C16.131.621.585.350|C16.131.621.906.364|C16.320.184.625.510 GIKANIS|GILLESSEN-KAESBACH-NISHIMURA SYNDROME|POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Polycystic Kidney Diseases MESH:D007690 DO:DOID:898|OMIM:173900 Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance. MESH:D000015|MESH:D000072661|MESH:D052177 C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.717|C16.320.184.625 C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.077|C16.320.184 ADPKD|APKD1|Disease, Polycystic Kidney|Disease, Polycystic Renal|Diseases, Polycystic Kidney|Diseases, Polycystic Renal|Kidney Disease, Polycystic|Kidney Diseases, Polycystic|Kidney, Polycystic|Kidneys, Polycystic|PKD1|Polycystic Kidney|Polycystic Kidney Disease|POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE|POLYCYSTIC KIDNEY DISEASE, ADULT|POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I|Polycystic Kidneys|Polycystic Renal Disease|Polycystic Renal Diseases|POTTER TYPE III POLYCYSTIC KIDNEY DISEASE, FORMERLY|Renal Disease, Polycystic|Renal Diseases, Polycystic Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Polycystic kidney disease, type 1 MESH:C536326 MESH:D007690 C12.050.351.968.419.403.875/C536326|C12.200.777.419.403.875/C536326|C12.950.419.403.875/C536326|C16.131.077.717/C536326|C16.320.184.625/C536326 C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.717|C16.320.184.625 Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Polycystic kidneys, severe infantile with tuberous sclerosis MESH:C536328 OMIM:600273 MESH:D014402|MESH:D017044 C04.445.810/C536328|C04.651.800/C536328|C04.700.700/C536328|C10.500.507.400.750/C536328|C10.562.850/C536328|C10.574.500.865/C536328|C12.050.351.968.419.403.875.510/C536328|C12.200.777.419.403.875.510/C536328|C12.950.419.403.875.510/C536328|C16.131.077.717.510/C536328|C16.131.666.507.400.750/C536328|C16.320.184.625.510/C536328|C16.320.400.880/C536328|C16.320.700.700/C536328 C04.445.810|C04.651.800|C04.700.700|C10.500.507.400.750|C10.562.850|C10.574.500.865|C12.050.351.968.419.403.875.510|C12.200.777.419.403.875.510|C12.950.419.403.875.510|C16.131.077.717.510|C16.131.666.507.400.750|C16.320.184.625.510|C16.320.400.880|C16.320.700.700 CHROMOSOME 16p13.3 DELETION SYNDROME, DISTAL|PKDTS|Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis|Tuberous sclerosis-polycystic kidney disease contiguous gene syndrome|TUBEROUS SCLEROSIS/POLYCYSTIC KIDNEY DISEASE CONTIGUOUS GENE SYNDROME Cancer|Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy MESH:C536329 DO:DOID:0090112|OMIM:221770 MESH:D008060|MESH:D010009|MESH:D013344 C01.207.245.340.600/C536329|C01.207.399.750.600/C536329|C01.925.182.525.600/C536329|C01.925.782.580.600.500.500.800/C536329|C01.925.839.862/C536329|C05.116.099.708/C536329|C10.228.140.430.520.750.600/C536329|C10.228.228.245.340.600/C536329|C10.228.228.399.750.600/C536329|C10.586.250.520.750.600/C536329|C16.320.728/C536329|C17.800.849.391/C536329|C18.452.584.625/C536329|C18.452.880.391/C536329 C01.207.245.340.600|C01.207.399.750.600|C01.925.182.525.600|C01.925.782.580.600.500.500.800|C01.925.839.862|C05.116.099.708|C10.228.140.430.520.750.600|C10.228.228.245.340.600|C10.228.228.399.750.600|C10.586.250.520.750.600|C16.320.728|C17.800.849.391|C18.452.584.625|C18.452.880.391 Brain-bone-fat disease|Dementia, prefrontal, with bone cysts|Dementia, progressive, with lipomembranous polycystic osteodysplasia|Nasu-Hakola disease|NHD|Plo-Sl|PLOSL|PLOSL1|POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1|Presenile dementia with bone cysts Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Skin disease|Viral disease Polycystic liver disease MESH:C536330 DO:DOID:0050770|OMIM:174050|OMIM:617004 MESH:D003560|MESH:D008107 C04.182/C536330|C06.552/C536330|C23.300.306/C536330 C04.182|C06.552|C23.300.306 Isolated autosomal dominant polycystic liver disease|Isolated polycystic liver disease|PCLD1|PCLD2|POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS|POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS Cancer|Digestive system disease|Pathology (anatomical condition) Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency MESH:C564868 MESH:D011085 C04.182.612.765/C564868|C12.050.351.500.056.630.580.765/C564868|C12.100.250.056.630.580.765/C564868|C19.391.630.580.765/C564868 C04.182.612.765|C12.050.351.500.056.630.580.765|C12.100.250.056.630.580.765|C19.391.630.580.765 Cancer|Endocrine system disease|Urogenital disease (female) Polycystic Ovary Syndrome MESH:D011085 DO:DOID:11612|OMIM:184700 A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading. MESH:D010048 C04.182.612.765|C12.050.351.500.056.630.580.765|C12.100.250.056.630.580.765|C19.391.630.580.765 C04.182.612|C12.050.351.500.056.630.580|C12.100.250.056.630.580|C19.391.630.580 HYPERANDROGENEMIA|Ovarian Degeneration, Sclerocystic|Ovarian Syndrome, Polycystic|Ovary, Sclerocystic|Ovary Syndrome, Polycystic|PCO|PCO1|PCOS|PCOS1|Polycystic Ovarian Syndrome|Polycystic Ovary Syndrome 1|Sclerocystic Ovarian Degeneration|Sclerocystic Ovaries|Sclerocystic Ovary|Sclerocystic Ovary Syndrome|Stein Leventhal Syndrome|Stein-Leventhal Syndrome|Syndrome, Polycystic Ovary|Syndrome, Stein-Leventhal Cancer|Endocrine system disease|Urogenital disease (female) Polycythemia MESH:D011086 DO:DOID:8432 An increase in the total red cell mass of the blood. (Dorland, 27th ed) MESH:D006402 C15.378.738 C15.378 Erythrocytoses|Erythrocytosis|Polycythemias Blood disease Polycythemia, primary familial and congenital MESH:C536842 OMIM:133100 MESH:D011086 C15.378.738/C536842 C15.378.738 Benign Familial Polycythemia|Congenital Erythrocytosis|ECYT1|ECYT1 familial erythrocytosis-1|Erythrocytosis autosomal dominant benign|Erythrocytosis, Autosomal Dominant Benign|Erythrocytosis familial, 1|Erythrocytosis, Familial, 1|Familial Erythrocytosis|Familial erythrocytosis, 1|Familial Polycythemia|Hereditary Erythrocytosis|PFCP|POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL|Primary Familial Polycythemia Blood disease Polycythemia Vera MESH:D011087 DO:DOID:8997|OMIM:263300 A myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia. Hematopoiesis is also reactive in extramedullary sites (liver and spleen). In time myelofibrosis occurs. MESH:D009196|MESH:D019046 C04.588.448.200.500|C15.378.190.250.500|C15.378.190.636.753|C15.378.400.200.500 C04.588.448.200|C15.378.190.250|C15.378.190.636|C15.378.400.200 Disease, Osler-Vaquez|Erythremia|Erythremias|Osler Vaquez Disease|Osler-Vaquez Disease|Polycythemia, Primary|Polycythemia Ruba Vera|Polycythemia Ruba Veras|Polycythemia Rubra Vera|Polycythemia Rubra Veras|Polycythemias, Primary|Primary Polycythemia|Primary Polycythemias|PRV|PV|Ruba Vera, Polycythemia|Ruba Veras, Polycythemia|Vera, Polycythemia Ruba|Vera, Polycythemia Rubra|Veras, Polycythemia Ruba|Veras, Polycythemia Rubra Blood disease|Cancer Polydactyly MESH:D017689 DO:DOID:1148 A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits. MESH:D017880 C05.660.585.600|C16.131.621.585.600 C05.660.585|C16.131.621.585 Hyperdactylies|Hyperdactyly|Polydactylia|Polydactylias|Polydactylies|Polydactylism|Polydactylisms Congenital abnormality|Musculoskeletal disease Polydactyly myopia syndrome MESH:C536331 MESH:D009216|MESH:D017689 C05.660.585.600/C536331|C11.744.636/C536331|C16.131.621.585.600/C536331 C05.660.585.600|C11.744.636|C16.131.621.585.600 Czeizel Brooser syndrome|Polydactyly-Myopia Syndrome|Polydactyly, Postaxial, With Progressive Myopia|Postaxial polydactyly-progressive myopia syndrome|Postaxial Polydactyly with progressive myopia Congenital abnormality|Eye disease|Musculoskeletal disease Polydactyly, Postaxial MESH:C562429 DO:DOID:1148|OMIM:174200 MESH:D017689 C05.660.585.600/C562429|C16.131.621.585.600/C562429 C05.660.585.600|C16.131.621.585.600 PAPA|PAPA1|PAPB, INCLUDED|POLYDACTYLY, POSTAXIAL POSTAXIAL POLYDACTYLY, TYPE B, INCLUDED|Polydactyly, Postaxial, Type A1|Postaxial Polydactyly, Type A|Postaxial Polydactyly, Type B Congenital abnormality|Musculoskeletal disease Polydactyly, Postaxial, Type A2 MESH:C566585 OMIM:602085 MESH:D017689 C05.660.585.600/C566585|C16.131.621.585.600/C566585 C05.660.585.600|C16.131.621.585.600 Papa2|Postaxial Polydactyly, Type A2 Congenital abnormality|Musculoskeletal disease Polydactyly, Postaxial, Type A3 MESH:C564590 OMIM:607324 MESH:D017689 C05.660.585.600/C564590|C16.131.621.585.600/C564590 C05.660.585.600|C16.131.621.585.600 PAPA3|Postaxial Polydactyly, Type A3 Congenital abnormality|Musculoskeletal disease Polydactyly, Postaxial, Type A4 MESH:C563909 OMIM:608562 MESH:D013576|MESH:D017689 C05.116.099.370.894.819/C563909|C05.660.585.600/C563909|C05.660.585.800/C563909|C05.660.906.819/C563909|C16.131.621.585.600/C563909|C16.131.621.585.800/C563909|C16.131.621.906.819/C563909 C05.116.099.370.894.819|C05.660.585.600|C05.660.585.800|C05.660.906.819|C16.131.621.585.600|C16.131.621.585.800|C16.131.621.906.819 PAPA4|Postaxial Polydactyly, Type A4 Congenital abnormality|Musculoskeletal disease Polydactyly, Postaxial, with Dental and Vertebral Anomalies MESH:C564880 MESH:D005532|MESH:D006228|MESH:D014071|MESH:D017689 C05.330.495/C564880|C05.390.408/C564880|C05.660.585.512.380/C564880|C05.660.585.600/C564880|C05.660.585.988.425/C564880|C07.650.800/C564880|C07.793.700/C564880|C16.131.621.585.512.500/C564880|C16.131.621.585.600/C564880|C16.131.621.585.988.500/C564880|C16.131.850.800/C564880 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.600|C05.660.585.988.425|C07.650.800|C07.793.700|C16.131.621.585.512.500|C16.131.621.585.600|C16.131.621.585.988.500|C16.131.850.800 Congenital abnormality|Mouth disease|Musculoskeletal disease Polydactyly, preaxial 4 MESH:C536333 OMIM:174700 MESH:D017689 C05.660.585.600/C536333|C16.131.621.585.600/C536333 C05.660.585.600|C16.131.621.585.600 CP1, INCLUDED|Polydactyly, Preaxial Iv|Polysyndactyly, uncomplicated|POLYSYNDACTYLY, UNCOMPLICATED CROSSED POLYDACTYLY, TYPE I, INCLUDED|PPD4 Congenital abnormality|Musculoskeletal disease POLYDACTYLY, PREAXIAL II OMIM:174500 DO:DOID:1148 MESH:C536311|MESH:D017689 C05.116.099.370.231.576/C536311/174500|C05.660.207.231.576/C536311/174500|C05.660.585.600/174500|C11.270.147.750/C536311/174500|C16.131.621.207.231.576/C536311/174500|C16.131.621.585.600/174500|C16.131/C536311/174500 C05.116.099.370.231.576/C536311|C05.660.207.231.576/C536311|C05.660.585.600|C11.270.147.750/C536311|C16.131.621.207.231.576/C536311|C16.131.621.585.600|C16.131/C536311 POLYDACTYLY OF TRIPHALANGEAL THUMB|PPD2|TPT, INCLUDED|TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME TRIPHALANGEAL THUMB, INCLUDED Congenital abnormality|Eye disease|Musculoskeletal disease Polydactyly, Preaxial III MESH:C566784 MESH:D017689 C05.660.585.600/C566784|C16.131.621.585.600/C566784 C05.660.585.600|C16.131.621.585.600 Index Finger Polydactyly Congenital abnormality|Musculoskeletal disease Polydactyly preaxial type 1 MESH:C536332 MESH:D017689 C05.660.585.600/C536332|C16.131.621.585.600/C536332 C05.660.585.600|C16.131.621.585.600 Fromont Anomaly|Polydactyly, Preaxial I|Thumb polydactyly Congenital abnormality|Musculoskeletal disease Polydipsia MESH:D059606 Excessive thirst manifested by excessive fluid intake. It is characteristic of many diseases such as DIABETES MELLITUS; DIABETES INSIPIDUS; and NEPHROGENIC DIABETES INSIPIDUS. The condition may be psychogenic in origin. MESH:D010335|MESH:D012816 C23.550.759|C23.888.663 C23.550|C23.888 Polydipsias Pathology (process)|Signs and symptoms Polydipsia, Psychogenic MESH:D059607 A clinical disorder characterized by excessive fluid intake (polydipsia); HYPONATREMIA; and POLYURIA in SCHIZOPHRENIA and other psychiatric disorders. Impaired water metabolism in psychogenic polydipsia can result in WATER INTOXICATION. MESH:D059606 C23.550.759.500|C23.888.663.500 C23.550.759|C23.888.663 Polydipsia, Primary|Polydipsias, Primary|Polydipsias, Psychogenic|Primary Polydipsia|Primary Polydipsias|Psychogenic Polydipsia|Psychogenic Polydipsias Pathology (process)|Signs and symptoms Polydysspondyly MESH:C565150 MESH:D006130|MESH:D010009 C05.116.099.708/C565150|C16.320.728/C565150|C23.550.393/C565150 C05.116.099.708|C16.320.728|C23.550.393 Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Polyendocrinopathies, Autoimmune MESH:D016884 DO:DOID:14040 Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present. MESH:D001327|MESH:D004700 C19.787|C20.111.750 C19|C20.111 AIRE Deficiencies|AIRE Deficiency|APECED|APS Type 1|Autoimmune Polyendocrine Syndrome, Type 2|Autoimmune Polyendocrine Syndrome, Type II|Autoimmune Polyendocrinopathy|Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy|Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy|Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy|Autoimmune Polyendocrinopathy Syndrome Type 1|Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy|Autoimmune Polyglandular Syndrome, Type 1|Autoimmune Polyglandular Syndrome, Type 3|Autoimmune Polyglandular Syndrome Type I|Autoimmune Polyglandular Syndrome, Type I|Autoimmune Polyglandular Syndrome Type II|Autoimmune Polyglandular Syndrome Type III|Autoimmune Syndrome Type III, Polyglandular|Autoimmune Syndrome Type II, Polyglandular|Autoimmune Syndrome Type I, Polyglandular|Deficiency, AIRE|Diabetes Mellitus, Addison Disease, Myxedema|Diabetes Mellitus, Addison's Disease, Myxedema|Multiple Endocrine Deficiency Syndrome, Type 2|Polyendocrine Autoimmune Syndrome, Type II|Polyendocrinopathy, Autoimmune|Polyendocrinopathy Candidiasis Ectodermal Dystrophy, Autoimmune|Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Autoimmune|Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune|Polyglandular Autoimmune Syndrome, Type 1|Polyglandular Autoimmune Syndrome, Type 2|Polyglandular Autoimmune Syndrome, Type 3|Polyglandular Autoimmune Syndrome, Type I|Polyglandular Deficiency Syndrome, Type 2|Polyglandular Type I Autoimmune Syndrome|Polyglandular Type II Autoimmune Syndrome|Polyglandular Type III Autoimmune Syndrome|Schmidt's Syndrome|Schmidt Syndrome|Syndrome, Schmidt|Syndrome, Schmidt's Endocrine system disease|Immune system disease Polyglucosan Body Disease, Adult Form MESH:C564878 OMIM:263570 MESH:D006008|MESH:D009422 C10/C564878|C16.320.565.202.449/C564878|C18.452.648.202.449/C564878 C10|C16.320.565.202.449|C18.452.648.202.449 Adult Polyglucosan Body Disease|APBD|APBN|POLYGLUCOSAN BODY DISEASE, ADULT FORM|POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM Genetic disease (inborn)|Metabolic disease|Nervous system disease Polyhydramnios MESH:D006831 DO:DOID:8488 A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities. MESH:D011248 C12.050.703.610 C12.050.703 Hydramnios Pregnancy complication Polyhydramnios, Chronic Idiopathic MESH:C564876 MESH:D006831 C12.050.703.610/C564876 C12.050.703.610 Lactogen Receptor Defect of Chorion Pregnancy complication Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy MESH:C567020 OMIM:611087 MESH:D004827|MESH:D006831|MESH:D011596|MESH:D058627 C05.660.207.536/C567020|C10.228.140.490/C567020|C10.500.507.400.249/C567020|C10.597.606.881/C567020|C12.050.703.610/C567020|C16.131.621.207.532/C567020|C16.131.666.507.400.249/C567020|C23.888.592.604.882/C567020 C05.660.207.536|C10.228.140.490|C10.500.507.400.249|C10.597.606.881|C12.050.703.610|C16.131.621.207.532|C16.131.666.507.400.249|C23.888.592.604.882 PMSE|PMSE SYNDROME Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pregnancy complication|Signs and symptoms Polymicrogyria MESH:D065706 DO:DOID:0080918 Heterogeneous disorders of cortical malformation characterized by excessive and small fused gyri and shallow sulci of the CORTEX with abnormal cortical lamination. It is considered a malformation secondary to abnormal post-migrational development of the neurons during cerebral cortical development and is associated with EPILEPSY and learning difficulties. MESH:D065704 C10.500.507.500.500|C16.131.666.507.500.500 C10.500.507.500|C16.131.666.507.500 Cerebral Micropolygyria|Cerebral Micropolygyrias|Cerebral Polymicrogyria|Cerebral Polymicrogyrias|Micropolygyria|Micropolygyria, Cerebral|Micropolygyrias|Micropolygyrias, Cerebral|Polymicrogyria, Cerebral|Polymicrogyrias|Polymicrogyrias, Cerebral Congenital abnormality|Nervous system disease Polymicrogyria, Asymmetric MESH:C567658 MESH:D054220 C10.500.507/C567658|C16.131.666.507/C567658 C10.500.507|C16.131.666.507 Congenital abnormality|Nervous system disease Polymicrogyria, Bilateral Frontoparietal MESH:C564652 OMIM:606854 MESH:D054220 C10.500.507/C564652|C16.131.666.507/C564652 C10.500.507|C16.131.666.507 BFPP|CDCBM14A|Cerebellar Ataxia with Neuronal Migration Defect|CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14A (BILATERAL FRONTOPARIETAL)|POLYMICROGYRIA, BILATERAL FRONTOPARIETAL Congenital abnormality|Nervous system disease Polymicrogyria, Bilateral Occipital MESH:C567201 OMIM:612691 MESH:D054220 C10.500.507/C567201|C16.131.666.507/C567201 C10.500.507|C16.131.666.507 BTOP|POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL Congenital abnormality|Nervous system disease Polymicrogyria With Optic Nerve Hypoplasia MESH:C567715 MESH:D054220 C10.500.507/C567715|C16.131.666.507/C567715 C10.500.507|C16.131.666.507 Congenital abnormality|Nervous system disease Polymorphic catecholergic ventricular tachycardia MESH:C536334 OMIM:611938|OMIM:614021|OMIM:614916 MESH:D017180 C14.280.067.845.940/C536334|C14.280.123.875.940/C536334|C23.550.073.845.940/C536334 C14.280.067.845.940|C14.280.123.875.940|C23.550.073.845.940 Bidirectional Tachycardia Induced By Catecholamines|Catecholamine-induced polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia|Cpvt2|CPVT3|CPVT4|Familial polymorphic ventricular tachycardia|Stress-induced polymorphic ventricular tachycardia|Ventricular Tachycardia, Catecholaminergic Polymorphic, 1|Ventricular Tachycardia, Catecholaminergic Polymorphic, 2|VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3|VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4|Ventricular Tachycardia, Familial|Ventricular Tachycardia, Familial Polymorphic|VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC|VTSIP Cardiovascular disease|Pathology (process) Polymyalgia Rheumatica MESH:D011111 DO:DOID:853 A syndrome in the elderly characterized by proximal joint and muscle pain, high erythrocyte sedimentation rate, and a self-limiting course. Pain is usually accompanied by evidence of an inflammatory reaction. Women are affected twice as commonly as men and Caucasians more frequently than other groups. The condition is frequently associated with GIANT CELL ARTERITIS and some theories pose the possibility that the two diseases arise from a single etiology or even that they are the same entity. MESH:D009135|MESH:D012216 C05.651.742|C05.799.720|C17.300.775.720 C05.651|C05.799|C17.300.775 Forestier Certonciny Syndrome|Forestier-Certonciny Syndrome|Peri-Extra-Articular Rheumatism|Pseudopolyarthritides, Rhizomelic|Pseudopolyarthritis, Rhizomelic|Rheumatism, Peri Extra Articular|Rheumatism, Peri-Extra-Articular|Rhizomelic Pseudopolyarthritides|Rhizomelic Pseudopolyarthritis|Syndrome, Forestier-Certonciny Connective tissue disease|Musculoskeletal disease Polymyositis MESH:D017285 DO:DOID:0080745 Diseases characterized by inflammation involving multiple muscles. This may occur as an acute or chronic condition associated with medication toxicity (DRUG TOXICITY); CONNECTIVE TISSUE DISEASES; infections; malignant NEOPLASMS; and other disorders. The term polymyositis is frequently used to refer to a specific clinical entity characterized by subacute or slowly progressing symmetrical weakness primarily affecting the proximal limb and trunk muscles. The illness may occur at any age, but is most frequent in the fourth to sixth decade of life. Weakness of pharyngeal and laryngeal muscles, interstitial lung disease, and inflammation of the myocardium may also occur. Muscle biopsy reveals widespread destruction of segments of muscle fibers and an inflammatory cellular response. (Adams et al., Principles of Neurology, 6th ed, pp1404-9) MESH:D009220 C05.651.594.819|C10.668.491.562.575 C05.651.594|C10.668.491.562 Idiopathic Polymyositides|Idiopathic Polymyositis|Multiple Myositis|Myositides, Multiple|Myositis, Multiple|Ossificans, Polymyositis|Polymyositides|Polymyositides, Idiopathic|Polymyositis, Idiopathic|Polymyositis Ossificans Musculoskeletal disease|Nervous system disease Polyneuropathies MESH:D011115 DO:DOID:1389|DO:DOID:14402 Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance. MESH:D010523 C10.668.829.800 C10.668.829 Acquired Polyneuropathies|Acquired Polyneuropathy|Critical Illness Polyneuropathies|Critical Illness Polyneuropathy|Familial Polyneuropathies|Familial Polyneuropathy|Inherited Polyneuropathies|Inherited Polyneuropathy|Motor Polyneuropathies|Motor Polyneuropathy|Polyneuropathies, Acquired|Polyneuropathies, Critical Illness|Polyneuropathies, Familial|Polyneuropathies, Inherited|Polyneuropathies, Motor|Polyneuropathy|Polyneuropathy, Acquired|Polyneuropathy, Critical Illness|Polyneuropathy, Familial|Polyneuropathy, Inherited|Polyneuropathy, Motor Nervous system disease Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract MESH:C567203 OMIM:612674 MESH:D001259|MESH:D002386|MESH:D011115|MESH:D012174 C10.597.350.090/C567203|C10.668.829.800/C567203|C11.270.684/C567203|C11.510.245/C567203|C11.768.585.658.500/C567203|C16.320.290.684/C567203|C23.888.592.350.090/C567203 C10.597.350.090|C10.668.829.800|C11.270.684|C11.510.245|C11.768.585.658.500|C16.320.290.684|C23.888.592.350.090 PHARC Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive MESH:C565773 MESH:D015417 C10.500.300/C565773|C10.574.500.495/C565773|C10.668.829.800.300/C565773|C16.131.666.300/C565773|C16.320.400.375/C565773 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Polyneuropathy, Mixed, of Early Onset MESH:C564879 MESH:D002607 C10.500.300.200/C564879|C10.574.500.495.200/C564879|C10.668.829.800.300.200/C564879|C16.131.666.300.200/C564879|C16.320.400.375.200/C564879 C10.500.300.200|C10.574.500.495.200|C10.668.829.800.300.200|C16.131.666.300.200|C16.320.400.375.200 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Polyomavirus Infections MESH:D027601 Infections with POLYOMAVIRUS, which are often cultured from the urine of kidney transplant patients. Excretion of BK VIRUS is associated with ureteral strictures and CYSTITIS, and that of JC VIRUS with progressive multifocal leukoencephalopathy (LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL). MESH:D004266 C01.925.256.721 C01.925.256 Polyomavirus Infection Viral disease Polyosteolysis-Hyperostosis Syndrome MESH:C563658 MESH:D010014|MESH:D015576 C05.116.264.579/C563658|C05.116.540/C563658 C05.116.264.579|C05.116.540 Musculoskeletal disease Polyostotic osteolytic dysplasia, hereditary expansile MESH:C536335 DO:DOID:0111542|OMIM:174810 MESH:D010014 C05.116.264.579/C536335 C05.116.264.579 EOF|Expansile osteolysis, familial|Familial expansile osteolysis|FEO|HEPOD|McCabe disease|Osteolysis, familial expansile|POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE Musculoskeletal disease Polyploidy MESH:D011123 The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc. MESH:D002869 C23.550.210.702 C23.550.210 Cell, Polyploid|Cells, Polyploid|Polyploid|Polyploid Cell|Polyploid Cells|Polyploidies|Polyploids Pathology (process) Polypoidal Choroidal Vasculopathy MESH:D000092342 A CHOROID neovascularization characterized by serosanguineous retinal pigment epithelial detachment and leakage of serous exudate sometimes associated with aneurysmal polypoidal lesions. MESH:D020256 C11.941.160.244.500|C23.550.589.500.145.500 C11.941.160.244|C23.550.589.500.145 Choroidal Neovascularization, Polypoidal|Choroidal Neovascularizations, Polypoidal|Choroidal Vasculopathies, Polypoidal|Choroidal Vasculopathy, Polypoidal|CNV, Polypoidal|Idiopathic Polypoidal Choroidal Vasculopathy|Neovascularization, Polypoidal Choroidal|Polypoidal Choroidal Neovascularization|Polypoidal Choroidal Neovascularizations|Polypoidal Choroidal Vasculopathies|Polypoidal CNV|Polypoidal CNVs|Vasculopathy, Polypoidal Choroidal Eye disease|Pathology (process) Polyposis, Gastric MESH:C562464 MESH:D013274|MESH:D018256 C04.557.470.035.215/C562464|C04.588.274.476.767/C562464|C06.301.371.767/C562464|C06.405.249.767/C562464|C06.405.748.789/C562464 C04.557.470.035.215|C04.588.274.476.767|C06.301.371.767|C06.405.249.767|C06.405.748.789 Cancer|Digestive system disease Polyposis, Intestinal, With Multiple Exostoses MESH:C566776 MESH:D005097|MESH:D009378 C04.557.450.565.575.610.615.325/C566776|C04.651/C566776|C04.700.330/C566776|C05.116.099.708.670.615.325/C566776|C05.116.540.310.500/C566776|C16.320.700.330/C566776 C04.557.450.565.575.610.615.325|C04.651|C04.700.330|C05.116.099.708.670.615.325|C05.116.540.310.500|C16.320.700.330 Cancer|Genetic disease (inborn)|Musculoskeletal disease Polyposis Of Gastric Fundus Without Polyposis Coli MESH:C566775 MESH:D011127|MESH:D013274 C04.588.274.476.767/C566775|C06.301.371.767/C566775|C06.405.249.767/C566775|C06.405.748.789/C566775|C23.300.825/C566775 C04.588.274.476.767|C06.301.371.767|C06.405.249.767|C06.405.748.789|C23.300.825 Fundic Gland Polyposis Cancer|Digestive system disease|Pathology (anatomical condition) Polyposis Syndrome, Hereditary Mixed, 1 MESH:C563365 OMIM:601228 MESH:D011125 C04.557.470.035.215.100/C563365|C04.588.274.476.411.307.089/C563365|C04.700.100/C563365|C06.301.371.411.307.090/C563365|C06.405.249.411.307.090/C563365|C06.405.469.158.356.090/C563365|C06.405.469.491.307.090/C563365|C06.405.469.578.249/C563365|C16.320.700.100/C563365 C04.557.470.035.215.100|C04.588.274.476.411.307.089|C04.700.100|C06.301.371.411.307.090|C06.405.249.411.307.090|C06.405.469.158.356.090|C06.405.469.491.307.090|C06.405.469.578.249|C16.320.700.100 CHROMOSOME 15q13-q14 DUPLICATION SYNDROME, 40-KB|Colorectal Adenoma and Carcinoma 1|COLORECTAL ADENOMA AND CARCINOMA 1;CRAC1 COLORECTAL CANCER, SUSCEPTIBILITY TO, 4, INCLUDED|COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15, INCLUDED|CRCS4, INCLUDED|HMPS1 Cancer|Digestive system disease|Genetic disease (inborn) Polyposis Syndrome, Hereditary Mixed, 2 MESH:C566451 OMIM:610069 MESH:D011125 C04.557.470.035.215.100/C566451|C04.588.274.476.411.307.089/C566451|C04.700.100/C566451|C06.301.371.411.307.090/C566451|C06.405.249.411.307.090/C566451|C06.405.469.158.356.090/C566451|C06.405.469.491.307.090/C566451|C06.405.469.578.249/C566451|C16.320.700.100/C566451 C04.557.470.035.215.100|C04.588.274.476.411.307.089|C04.700.100|C06.301.371.411.307.090|C06.405.249.411.307.090|C06.405.469.158.356.090|C06.405.469.491.307.090|C06.405.469.578.249|C16.320.700.100 HMPS2 Cancer|Digestive system disease|Genetic disease (inborn) Polyps MESH:D011127 Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base. MESH:D020763 C23.300.825 C23.300 Polyp Pathology (anatomical condition) Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal MESH:C566774 MESH:D005350|MESH:D005770 C04.557.450.565.590.340/C566774|C04.588.274.476/C566774|C06.301.371/C566774|C06.405.249/C566774 C04.557.450.565.590.340|C04.588.274.476|C06.301.371|C06.405.249 Cancer|Digestive system disease Polyradiculoneuropathy MESH:D011129 DO:DOID:4308 Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots. MESH:D003711|MESH:D011115|MESH:D020274 C10.114.750|C10.314.750|C10.668.829.800.750|C20.111.258.750 C10.114|C10.314|C10.668.829.800|C20.111.258 Autoimmune Demyelinating Disease, Peripheral|Demyelinating Autoimmune Disease, Peripheral|Demyelinating Disease, Peripheral Autoimmune|Peripheral Autoimmune Demyelinating Disease|Polyradiculoneuritides|Polyradiculoneuritis|Polyradiculoneuropathies Immune system disease|Nervous system disease Polyradiculoneuropathy, Chronic Inflammatory Demyelinating MESH:D020277 DO:DOID:2536|DO:DOID:5213 A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337) MESH:D002908|MESH:D011129 C10.114.750.175|C10.314.750.700|C10.668.829.800.750.600|C20.111.258.750.800|C23.550.291.500.813 C10.114.750|C10.314.750|C10.668.829.800.750|C20.111.258.750|C23.550.291.500 Chronic Inflammatory Demyelinating Polyradiculoneuropathy|Chronic Inflammatory Polyradiculoneuropathies|Chronic Inflammatory Polyradiculoneuropathy|Chronic Inflammatory Polyradiculopathies|Chronic Inflammatory Polyradiculopathy|CIDP|Inflammatory Polyradiculoneuropathies, Chronic|Inflammatory Polyradiculoneuropathy, Chronic|Inflammatory Polyradiculopathies, Chronic|Inflammatory Polyradiculopathy, Chronic|Polyneuropathy, Inflammatory Demyelinating, Chronic|Polyradiculoneuropathies, Chronic Inflammatory|Polyradiculoneuropathy, Chronic Inflammatory|Polyradiculopathies, Chronic Inflammatory|Polyradiculopathy, Chronic Inflammatory Immune system disease|Nervous system disease|Pathology (process) Polyradiculopathy MESH:D011128 DO:DOID:4307 Disease or injury involving multiple SPINAL NERVE ROOTS. Polyradiculitis refers to inflammation of multiple spinal nerve roots. MESH:D011129 C10.668.829.800.750.700 C10.668.829.800.750 Abdominal Polyradiculopathies|Abdominal Polyradiculopathy|Polyradiculitides|Polyradiculitis|Polyradiculopathies|Polyradiculopathies, Abdominal|Polyradiculopathy, Abdominal Nervous system disease Polysaccharide, Storage of Unusual MESH:C564877 MESH:D002239 C16.320.565.202/C564877|C18.452.648.202/C564877 C16.320.565.202|C18.452.648.202 Genetic disease (inborn)|Metabolic disease Polysyndactyly, Crossed MESH:C566773 MESH:D013576|MESH:D017689 C05.116.099.370.894.819/C566773|C05.660.585.600/C566773|C05.660.585.800/C566773|C05.660.906.819/C566773|C16.131.621.585.600/C566773|C16.131.621.585.800/C566773|C16.131.621.906.819/C566773 C05.116.099.370.894.819|C05.660.585.600|C05.660.585.800|C05.660.906.819|C16.131.621.585.600|C16.131.621.585.800|C16.131.621.906.819 Congenital abnormality|Musculoskeletal disease Polythelia, Familial MESH:C562557 MESH:D001941 C17.800.090/C562557 C17.800.090 Accessory Nipples|Nipples, Supernumerary|Polymastia Skin disease Polyuria MESH:D011141 Urination of a large volume of urine with an increase in urinary frequency, commonly seen in diabetes (DIABETES MELLITUS; DIABETES INSIPIDUS). MESH:D014555|MESH:D020924 C12.050.351.968.934.616|C12.200.777.934.616|C12.950.934.616|C23.888.942.600 C12.050.351.968.934|C12.200.777.934|C12.950.934|C23.888.942 Polyurias Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Pontocerebellar Hypoplasia MESH:C580383 DO:DOID:0060264 MESH:D002526 C10.228.140.252/C580383 C10.228.140.252 Congenital Pontocerebellar Hypoplasia Nervous system disease Pontocerebellar Hypoplasia Type 1 MESH:C548069 DO:DOID:0112322|OMIM:607596 MESH:D009849 C10.177.575.550.375/C548069|C10.228.140.079.612.600/C548069|C10.228.140.252.700.650/C548069|C10.228.662.550.600/C548069|C10.228.854.787.750/C548069|C10.574.500.825.650/C548069|C16.320.400.780.750/C548069 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 PCH1|PCH1A|Pontocerebellar Hypoplasia, Type 1a|Pontocerebellar Hypoplasia With Anterior Horn Cell Disease|Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Genetic disease (inborn)|Nervous system disease PONTOCEREBELLAR HYPOPLASIA, TYPE 10 OMIM:615803 DO:DOID:0060279 MESH:C580383 C10.228.140.252/C580383/615803 C10.228.140.252/C580383 PCH10 Nervous system disease PONTOCEREBELLAR HYPOPLASIA, TYPE 1B OMIM:614678 DO:DOID:0060266 MESH:C580383 C10.228.140.252/C580383/614678 C10.228.140.252/C580383 PCH1B Nervous system disease PONTOCEREBELLAR HYPOPLASIA, TYPE 1C OMIM:616081 DO:DOID:0112334 MESH:C580383 C10.228.140.252/C580383/616081 C10.228.140.252/C580383 HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA|PCH1C Nervous system disease Pontocerebellar Hypoplasia Type 2 MESH:C548070 DO:DOID:0112328 MESH:D009849 C10.177.575.550.375/C548070|C10.228.140.079.612.600/C548070|C10.228.140.252.700.650/C548070|C10.228.662.550.600/C548070|C10.228.854.787.750/C548070|C10.574.500.825.650/C548070|C16.320.400.780.750/C548070 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 Genetic disease (inborn)|Nervous system disease Pontocerebellar Hypoplasia Type 2A MESH:C564738 DO:DOID:0060267|OMIM:277470 MESH:D009849 C10.177.575.550.375/C564738|C10.228.140.079.612.600/C564738|C10.228.140.252.700.650/C564738|C10.228.662.550.600/C564738|C10.228.854.787.750/C564738|C10.574.500.825.650/C564738|C16.320.400.780.750/C564738 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 PCH2|PCH2A|PONTOCEREBELLAR HYPOPLASIA, TYPE 2A|Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy|Volendam Neurodegenerative Disease Genetic disease (inborn)|Nervous system disease Pontocerebellar Hypoplasia Type 2B MESH:C567325 DO:DOID:0060268|OMIM:612389 MESH:D002526 C10.228.140.252/C567325 C10.228.140.252 PCH2B|PONTOCEREBELLAR HYPOPLASIA, TYPE 2B Nervous system disease Pontocerebellar Hypoplasia Type 2C MESH:C567324 DO:DOID:0060269|OMIM:612390 MESH:D002526 C10.228.140.252/C567324 C10.228.140.252 PCH2C|PONTOCEREBELLAR HYPOPLASIA, TYPE 2C Nervous system disease PONTOCEREBELLAR HYPOPLASIA, TYPE 2D OMIM:613811 DO:DOID:0060270 MESH:C580383 C10.228.140.252/C580383/613811 C10.228.140.252/C580383 CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE|PCCA|PCH2D Nervous system disease PONTOCEREBELLAR HYPOPLASIA, TYPE 2E OMIM:615851 DO:DOID:0060271 MESH:C580383 C10.228.140.252/C580383/615851 C10.228.140.252/C580383 PCH2E Nervous system disease PONTOCEREBELLAR HYPOPLASIA, TYPE 2F OMIM:617026 DO:DOID:0112329 MESH:C580383 C10.228.140.252/C580383/617026 C10.228.140.252/C580383 PCH2F Nervous system disease Pontocerebellar Hypoplasia Type 3 MESH:C548072 DO:DOID:0060272|OMIM:608027 MESH:D009849 C10.177.575.550.375/C548072|C10.228.140.079.612.600/C548072|C10.228.140.252.700.650/C548072|C10.228.662.550.600/C548072|C10.228.854.787.750/C548072|C10.574.500.825.650/C548072|C16.320.400.780.750/C548072 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 Cerebellar Atrophy With Progressive Microcephaly|CLAM|PCH3|Pch With Optic Atrophy|PONTOCEREBELLAR HYPOPLASIA, TYPE 3 Genetic disease (inborn)|Nervous system disease PONTOCEREBELLAR HYPOPLASIA, TYPE 4 OMIM:225753 DO:DOID:0060273 MESH:C536716|MESH:C580383 C10.177.575.550.375/C536716/225753|C10.228.140.079.612.600/C536716/225753|C10.228.140.252.700.650/C536716/225753|C10.228.140.252/C580383/225753|C10.228.662.550.600/C536716/225753|C10.228.854.787.750/C536716/225753|C10.574.500.825.650/C536716/225753|C16.320.400.780.750/C536716/225753 C10.177.575.550.375/C536716|C10.228.140.079.612.600/C536716|C10.228.140.252.700.650/C536716|C10.228.140.252/C580383|C10.228.662.550.600/C536716|C10.228.854.787.750/C536716|C10.574.500.825.650/C536716|C16.320.400.780.750/C536716 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA|PCH4 Genetic disease (inborn)|Nervous system disease Pontocerebellar Hypoplasia Type 6 MESH:C548074 DO:DOID:0060275|OMIM:611523 MESH:D009849 C10.177.575.550.375/C548074|C10.228.140.079.612.600/C548074|C10.228.140.252.700.650/C548074|C10.228.662.550.600/C548074|C10.228.854.787.750/C548074|C10.574.500.825.650/C548074|C16.320.400.780.750/C548074 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects|PCH6|PONTOCEREBELLAR HYPOPLASIA, TYPE 6 Genetic disease (inborn)|Nervous system disease PONTOCEREBELLAR HYPOPLASIA, TYPE 7 OMIM:614969 DO:DOID:0060276 MESH:C580383 C10.228.140.252/C580383/614969 C10.228.140.252/C580383 PCH7 Nervous system disease PONTOCEREBELLAR HYPOPLASIA, TYPE 8 OMIM:614961 DO:DOID:0060277 MESH:C580383 C10.228.140.252/C580383/614961 C10.228.140.252/C580383 PCH8 Nervous system disease PONTOCEREBELLAR HYPOPLASIA, TYPE 9 OMIM:615809 DO:DOID:0060278 MESH:C580383 C10.228.140.252/C580383/615809 C10.228.140.252/C580383 PCH9 Nervous system disease Popliteal Artery Aneurysm MESH:D000094622 An abnormal balloon- or sac-like dilatation in the wall of the POPLITEAL ARTERY located behind the KNEE JOINT. MESH:D000783 C14.907.055.863 C14.907.055 Aneurysm, Popliteal|Aneurysm, Popliteal Artery|Artery Aneurysm, Popliteal|Popliteal Aneurysm|Popliteal Aneurysms|Popliteal Artery Aneurysms Cardiovascular disease Popliteal Artery Entrapment Syndrome MESH:D000083082 Entrapment of the POPLITEAL ARTERY in the LEG due to an abnormal course of the artery often associated with onset of development and/or overuse of the gastrocnemius or popliteus muscles on the back of the leg. It is most often associated with runners and other athletes with enlarged calf muscle that compresses the POPLITEAL ARTERY. MESH:D001157 C14.907.137.671 C14.907.137 Artery Entrapment, Popliteal|Entrapment, Popliteal Artery|Popliteal Artery Entrapment|Popliteal Artery Entrapments Cardiovascular disease Popliteal Cyst MESH:D011151 A SYNOVIAL CYST located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint. MESH:D013581 C04.182.867.500 C04.182.867 Baker Cyst|Baker Cysts|Baker's Cyst|Cyst, Baker|Cyst, Popliteal|Cysts, Baker|Cysts, Popliteal|Popliteal Cysts Cancer Popliteal Pterygium Syndrome MESH:C562509 DO:DOID:0060055|OMIM:119500 MESH:D002971|MESH:D002972|MESH:D005124|MESH:D013576|MESH:D014564|MESH:D038061 C05.116.099.370.894.819/C562509|C05.500.460.185/C562509|C05.660.207.540.460.185/C562509|C05.660.585.512/C562509|C05.660.585.800/C562509|C05.660.906.819/C562509|C07.320.440.185/C562509|C07.465.409.225/C562509|C07.465.525.164/C562509|C07.465.525.185/C562509|C07.650.500.460.185/C562509|C07.650.525.164/C562509|C07.650.525.185/C562509|C11.250/C562509|C12.050.351.875/C562509|C12.200.706/C562509|C12.800/C562509|C16.131.384/C562509|C16.131.621.207.540.460.185/C562509|C16.131.621.585.512/C562509|C16.131.621.585.800/C562509|C16.131.621.906.819/C562509|C16.131.850.500.460.185/C562509|C16.131.850.525.164/C562509|C16.131.850.525.185/C562509|C16.131.939/C562509 C05.116.099.370.894.819|C05.500.460.185|C05.660.207.540.460.185|C05.660.585.512|C05.660.585.800|C05.660.906.819|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C11.250|C12.050.351.875|C12.200.706|C12.800|C16.131.384|C16.131.621.207.540.460.185|C16.131.621.585.512|C16.131.621.585.800|C16.131.621.906.819|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.131.939 Cleft Lip-Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies|CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES|Faciogenitopopliteal Syndrome|Facio-Genito-Popliteal Syndrome|PPS Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Popliteal Pterygium Syndrome, Lethal Type MESH:C564874 OMIM:263650 MESH:D002971|MESH:D002972|MESH:D005124|MESH:D013576 C05.116.099.370.894.819/C564874|C05.500.460.185/C564874|C05.660.207.540.460.185/C564874|C05.660.585.800/C564874|C05.660.906.819/C564874|C07.320.440.185/C564874|C07.465.409.225/C564874|C07.465.525.164/C564874|C07.465.525.185/C564874|C07.650.500.460.185/C564874|C07.650.525.164/C564874|C07.650.525.185/C564874|C11.250/C564874|C16.131.384/C564874|C16.131.621.207.540.460.185/C564874|C16.131.621.585.800/C564874|C16.131.621.906.819/C564874|C16.131.850.500.460.185/C564874|C16.131.850.525.164/C564874|C16.131.850.525.185/C564874 C05.116.099.370.894.819|C05.500.460.185|C05.660.207.540.460.185|C05.660.585.800|C05.660.906.819|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C11.250|C16.131.384|C16.131.621.207.540.460.185|C16.131.621.585.800|C16.131.621.906.819|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Aslan Multiple Pterygium Syndrome|Bartsocas-Papas Syndrome|BARTSOCAS-PAPAS SYNDROME 1|BPS1|Multiple Pterygium Syndrome, Aslan Type|POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 1|POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE|Pterygium, Popliteal, Lethal Type Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Porcine Postweaning Multisystemic Wasting Syndrome MESH:D053570 A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by PORCINE CIRCOVIRUS infection, specifically type 2 or PCV-2. MESH:D013553|MESH:D018173 C01.925.256.200.500|C22.905.690 C01.925.256.200|C22.905 Postweaning Multisystemic Wasting Syndrome, Porcine Animal disease|Viral disease Porcine Reproductive and Respiratory Syndrome MESH:D019318 A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048) MESH:D013553|MESH:D018174 C01.925.782.600.100.700|C22.905.700 C01.925.782.600.100|C22.905 Blue Eared Pig Disease|Blue-Eared Pig Disease|Mystery Swine Disease|Pig Disease, Blue-Eared|Porcine Epidemic Abortion and Respiratory Syndrome|PRRS|Swine Disease, Mystery|Swine Infertility and Respiratory Syndrome Animal disease|Viral disease Porencephaly MESH:D065708 DO:DOID:0060263|OMIM:614483 Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types. MESH:D008831|MESH:D065704 C05.660.207.620.500|C10.500.507.500.625|C16.131.621.207.620.500|C16.131.666.507.500.625 C05.660.207.620|C10.500.507.500|C16.131.621.207.620|C16.131.666.507.500 Autosomal Dominant Porencephaly Type 1|BRAIN SMALL VESSEL DISEASE 2|Brain Small Vessel Disease With Axenfeld Rieger Anomaly|Brain Small Vessel Disease With Axenfeld-Rieger Anomaly|Brain Small Vessel Disease with Hemorrhage|Brain Small-Vessel Disease with Hemorrhage|BSVD2|Col4a1 Related Brain Small Vessel Disease|Col4a1-Related Brain Small-Vessel Disease|Congenital Porencephaly|Developmental Porencephaly|Encephaloclastic Porencephaly|Familial Porencephalic White Matter Disease|Familial Porencephaly|GOULD SYNDROME 2|Infantile Hemiplegia with Porencephaly|Leukoencephalopathy with Axenfeld Rieger Anomaly|Leukoencephalopathy with Axenfeld-Rieger Anomaly|POREN2, FORMERLY|Porencephalies|Porencephalies, Post-traumatic|Porencephalies, Posttraumatic|PORENCEPHALY 2, FORMERLY|Porencephaly, Congenital|Porencephaly, Developmental|Porencephaly, Encephaloclastic|Porencephaly, Familial|Porencephaly, Post-traumatic|Porencephaly, Posttraumatic|Porencephaly Type 1|Porencephaly, Type 1|Porencephaly, Type 1, Autosomal Dominant|Post-traumatic Porencephalies|Posttraumatic Porencephalies|Post traumatic Porencephaly|Post-traumatic Porencephaly|Posttraumatic Porencephaly|Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant|Type 1 Porencephaly Congenital abnormality|Musculoskeletal disease|Nervous system disease Porencephaly cerebellar hypoplasia malformations MESH:C536336 MESH:D002526|MESH:D065708 C05.660.207.620.500/C536336|C10.228.140.252/C536336|C10.500.507.500.625/C536336|C16.131.621.207.620.500/C536336|C16.131.666.507.500.625/C536336 C05.660.207.620.500|C10.228.140.252|C10.500.507.500.625|C16.131.621.207.620.500|C16.131.666.507.500.625 Porencephaly, cerebellar hypoplasia, and internal malformations Congenital abnormality|Musculoskeletal disease|Nervous system disease Poroid hidradenoma MESH:C000613206 MESH:D018250|MESH:D057091 C04.557.470.035.175.125/C000613206|C04.557.470.035.175.588/C000613206|C04.557.470.550.175.125/C000613206|C04.557.470.550.175.588/C000613206 C04.557.470.035.175.125|C04.557.470.035.175.588|C04.557.470.550.175.125|C04.557.470.550.175.588 Cancer Porokeratosis MESH:D017499 DO:DOID:3805 A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. MESH:D007642|MESH:D012873 C16.320.850.730|C17.800.428.750|C17.800.827.730 C16.320.850|C17.800.428|C17.800.827 Disseminated Superficial Actinic Porokeratosis|Keratoderma Palmoplantar, Punctate Type 2|Linear Porokeratosis|Mibelli Porokeratosis|Palmoplantar Porokeratosis|Porokeratosis, Disseminated Superficial Actinic|Porokeratosis, Disseminated Superficial Actinic 2|Porokeratosis, Disseminated Superficial Actinic, 2|Porokeratosis, Linear|Porokeratosis, Mibelli|Porokeratosis of Mibelli|Porokeratosis Palmaris et Plantaris Disseminata|Porokeratosis, Palmar, Plantar, And Disseminated 1|Porokeratosis, Palmoplantar|Porokeratosis Plantaris Palmaris et Disseminata|Porokeratosis Plantaris, Palmaris, Et Disseminata|Porokeratosis, Punctate|Punctate Porokeratosis|Type 2 Punctate PPK Genetic disease (inborn)|Skin disease POROKERATOSIS 1, MULTIPLE TYPES OMIM:175800 DO:DOID:3805 MESH:D017499 C16.320.850.730/175800|C17.800.428.750/175800|C17.800.827.730/175800 C16.320.850.730|C17.800.428.750|C17.800.827.730 POROK1|POROKERATOSIS OF MIBELLI Genetic disease (inborn)|Skin disease POROKERATOSIS 6, MULTIPLE TYPES OMIM:612353 MESH:D017499 C16.320.850.730/612353|C17.800.428.750/612353|C17.800.827.730/612353 C16.320.850.730|C17.800.428.750|C17.800.827.730 DSAP4|POROK6|POROKERATOSIS 6, DISSEMINATED SUPERFICIAL|POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 4 Genetic disease (inborn)|Skin disease POROKERATOSIS 7, MULTIPLE TYPES OMIM:614714 MESH:D017499 C16.320.850.730/614714|C17.800.428.750/614714|C17.800.827.730/614714 C16.320.850.730|C17.800.428.750|C17.800.827.730 POROK7 Genetic disease (inborn)|Skin disease POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE OMIM:616063 MESH:D017499 C16.320.850.730/616063|C17.800.428.750/616063|C17.800.827.730/616063 C16.320.850.730|C17.800.428.750|C17.800.827.730 POROK8 Genetic disease (inborn)|Skin disease POROKERATOSIS 9, MULTIPLE TYPES OMIM:616631 MESH:D017499 C16.320.850.730/616631|C17.800.428.750/616631|C17.800.827.730/616631 C16.320.850.730|C17.800.428.750|C17.800.827.730 POROK9 Genetic disease (inborn)|Skin disease Porokeratosis, disseminated superficial actinic 1 MESH:C536339 OMIM:175900 MESH:D017499 C16.320.850.730/C536339|C17.800.428.750/C536339|C17.800.827.730/C536339 C16.320.850.730|C17.800.428.750|C17.800.827.730 DSAP1|POROK3|POROKERATOSIS 3, MULTIPLE TYPES|Porokeratosis, Disseminated Superficial Actinic, 1 Genetic disease (inborn)|Skin disease Porokeratosis, Disseminated Superficial Actinic, 3 MESH:C567356 OMIM:612293 MESH:D017499 C16.320.850.730/C567356|C17.800.428.750/C567356|C17.800.827.730/C567356 C16.320.850.730|C17.800.428.750|C17.800.827.730 DSAP3|POROK5|POROKERATOSIS 5, DISSEMINATED SUPERFICIAL ACTINIC TYPE|POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 3 Genetic disease (inborn)|Skin disease Porokeratosis, Disseminated Superficial Actinic, 4 MESH:C567339 OMIM:607728 MESH:D017499 C16.320.850.730/C567339|C17.800.428.750/C567339|C17.800.827.730/C567339 C16.320.850.730|C17.800.428.750|C17.800.827.730 DSAP2|POROK4|POROKERATOSIS 4, DISSEMINATED SUPERFICIAL ACTINIC TYPE|POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 2 Genetic disease (inborn)|Skin disease Porokeratosis punctata palmaris et plantaris MESH:C536338 OMIM:175850 MESH:D007645|MESH:D017499 C16.320.850.475/C536338|C16.320.850.730/C536338|C17.800.428.435/C536338|C17.800.428.750/C536338|C17.800.827.475/C536338|C17.800.827.730/C536338 C16.320.850.475|C16.320.850.730|C17.800.428.435|C17.800.428.750|C17.800.827.475|C17.800.827.730 Keratoderma, Palmoplantar, Punctate Type Ii|POROK2|POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE|POROKERATOSIS PALMARIS ET PLANTARIS DISSEMINATA|POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED|POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED, 1|POROKERATOSIS PLANTARIS PALMARIS ET DISSEMINATA|PPPD|PPPD1 Genetic disease (inborn)|Skin disease Poroma MESH:D057091 A benign adnexal neoplasm derived from cells of the terminal duct of eccrine or apocrine SWEAT GLAND lineage. They typically manifest as solitary papules and occur only in the skin but unlike in ACROSPIROMA involves the epidermis. MESH:D006607 C04.557.470.035.175.588|C04.557.470.550.175.588 C04.557.470.035.175|C04.557.470.550.175 Apocrine Poroma|Apocrine Poromas|Dermal Duct Tumor|Dermal Duct Tumors|Duct Tumor, Dermal|Eccrine Poroma|Eccrine Poromas|Hidracanthoma Simplex|Intraepidermal Poroma|Intraepidermal Poromas|Poroma, Apocrine|Poroma, Eccrine|Poroma, Intraepidermal|Poromas|Poromatoses|Poromatosis|Syringoacanthoma|Syringoacanthomas|Syringofibroadenoma|Syringofibroadenomas|Tumor, Dermal Duct Cancer Porphyria, Acute Hepatic MESH:C562618 OMIM:612740 MESH:D017094 C06.552.830/C562618|C16.320.850.742/C562618|C17.800.827.742/C562618|C18.452.811.400/C562618 C06.552.830|C16.320.850.742|C17.800.827.742|C18.452.811.400 ALAD Deficiency|Delta-Aminolevulinate Dehydratase Deficiency|Doss Porphyria|DOSS PORPHYRIA LEAD POISONING, SUSCEPTIBILITY TO, INCLUDED|Porphobilinogen Synthase Deficiency|PORPHYRIA, ALAD Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Porphyria, Acute Intermittent MESH:D017118 DO:DOID:3890|OMIM:176000 An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine. MESH:D017094 C06.552.830.150|C16.320.850.742.150|C17.800.827.742.150|C18.452.811.400.150 C06.552.830|C16.320.850.742|C17.800.827.742|C18.452.811.400 Acute Intermittent Porphyria|Acute Intermittent Porphyrias|Acute Porphyria|Acute Porphyrias|AIP|Deaminase Deficiencies, Porphobilinogen|Deaminase Deficiency, Porphobilinogen|Deficiencies, Hydroxymethylbilane Synthase|Deficiencies, PBGD|Deficiencies, Porphobilinogen Deaminase|Deficiencies, UPS|Deficiencies, Uroporphyrinogen Synthase|Deficiency, Hydroxymethylbilane Synthase|Deficiency, PBGD|Deficiency, Porphobilinogen Deaminase|Deficiency, UPS|Deficiency, Uroporphyrinogen Synthase|Hydroxymethylbilane Synthase Deficiencies|Hydroxymethylbilane Synthase Deficiency|Intermittent Porphyria, Acute|Intermittent Porphyrias, Acute|PBGD Deficiencies|PBGD Deficiency|PORC, INCLUDED|Porphobilinogen Deaminase Deficiencies|Porphobilinogen Deaminase Deficiency|Porphyria, Acute|PORPHYRIA, CHESTER TYPE, INCLUDED|Porphyrias, Acute|Porphyrias, Acute Intermittent|Porphyrias, Swedish Type|Porphyria, Swedish Type|Swedish Type Porphyria|Swedish Type Porphyrias|Synthase Deficiencies, Hydroxymethylbilane|Synthase Deficiencies, Uroporphyrinogen|Synthase Deficiency, Hydroxymethylbilane|Synthase Deficiency, Uroporphyrinogen|Type Porphyrias, Swedish|Type Porphyria, Swedish|UPS Deficiencies|UPS Deficiency|UPS DEFICIENCY PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED|Uroporphyrinogen Synthase Deficiencies|Uroporphyrinogen Synthase Deficiency Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Porphyria, Acute Intermittent, Nonerythroid Variant MESH:C566769 MESH:D017118 C06.552.830.150/C566769|C16.320.850.742.150/C566769|C17.800.827.742.150/C566769|C18.452.811.400.150/C566769 C06.552.830.150|C16.320.850.742.150|C17.800.827.742.150|C18.452.811.400.150 Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Porphyria, Chester type MESH:C536341 MESH:D011164 C18.452.811/C536341 C18.452.811 Metabolic disease Porphyria Cutanea Tarda MESH:D017119 DO:DOID:3132|OMIM:176100 An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form. MESH:D017094 C06.552.830.100|C16.320.850.742.250|C17.800.827.742.250|C18.452.811.400.250 C06.552.830|C16.320.850.742|C17.800.827.742|C18.452.811.400 HEP, INCLUDED|PCT|PCT, 'FAMILIAL' TYPE|PCT, TYPE II|PORPHYRIA CUTANEA TARDA, TYPE II|PORPHYRIA, HEPATOCUTANEOUS TYPE|UROD DEFICIENCY PORPHYRIA, HEPATOERYTHROPOIETIC, INCLUDED|UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Porphyria Cutanea Tarda, Type I MESH:C566768 MESH:D017119 C06.552.830.100/C566768|C16.320.850.742.250/C566768|C17.800.827.742.250/C566768|C18.452.811.400.250/C566768 C06.552.830.100|C16.320.850.742.250|C17.800.827.742.250|C18.452.811.400.250 PCT, Sporadic Type|PCT, Type I Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Porphyria, Erythropoietic MESH:D017092 DO:DOID:13271|OMIM:263700 An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS. MESH:D011164|MESH:D012873 C16.320.850.738|C17.800.827.738|C18.452.811.250 C16.320.850|C17.800.827|C18.452.811 CEP|Congenital Erythropoietic Porphyria|Congenital Erythropoietic Porphyrias|Deficiency of Uroporphyrinogen III Synthase|Erythropoietic Porphyria|Erythropoietic Porphyria, Congenital|Erythropoietic Porphyrias|Erythropoietic Porphyrias, Congenital|Gunther Disease|Gunther's Disease|Gunthers Disease|Porphyria, Congenital Erythropoietic|Porphyria, Erythropoietic, Congenital|Porphyrias, Congenital Erythropoietic|Porphyrias, Erythropoietic|UROPORPHYRINOGEN III SYNTHASE DEFICIENCY|Uroporphyrinogen III Synthase, Deficiency of|UROS Deficiency Genetic disease (inborn)|Metabolic disease|Skin disease Porphyria, Hepatoerythropoietic MESH:D017121 DO:DOID:5230 An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating. MESH:D017094 C06.552.830.437|C16.320.850.742.437|C17.800.827.742.437|C18.452.811.400.437 C06.552.830|C16.320.850.742|C17.800.827.742|C18.452.811.400 Erythrohepatic Porphyria|Erythrohepatic Porphyrias|Hepatoerythropoietic Porphyria|Hepatoerythropoietic Porphyrias|Porphyria, Erythrohepatic|Porphyrias, Erythrohepatic|Porphyrias, Hepatoerythropoietic Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Porphyrias MESH:D011164 DO:DOID:13268 A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. MESH:D008659 C18.452.811 C18.452 Disorder, Porphyrin|Disorders, Porphyrin|Porphyria|Porphyrin Disorder|Porphyrin Disorders Metabolic disease Porphyrias, Hepatic MESH:D017094 DO:DOID:3133 A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues. MESH:D008107|MESH:D011164|MESH:D012873 C06.552.830|C16.320.850.742|C17.800.827.742|C18.452.811.400 C06.552|C16.320.850|C17.800.827|C18.452.811 Hepatic Porphyria|Hepatic Porphyrias|Porphyria, Hepatic Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Porphyria, Variegate MESH:D046350 DO:DOID:4346|OMIM:176200 An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen. MESH:D017094 C06.552.830.625|C16.320.850.742.625|C17.800.827.742.625|C18.452.811.400.625 C06.552.830|C16.320.850.742|C17.800.827.742|C18.452.811.400 Deficiency, Ppox|Porphyria, South African Type|Porphyria Variegata|Porphyria Variegate|Ppox Deficiencies|Ppox Deficiency|Protoporphyrinogen Oxidase Deficiency|Variegate Porphyria|VP Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Portal Vein, Cavernous Transformation Of MESH:C563407 MESH:D006975 C06.552.494/C563407 C06.552.494 Digestive system disease Port-Wine Stain MESH:D019339 A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: HEMANGIOMA, CAPILLARY is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. (From Rook et al., Textbook of Dermatology, 5th ed, p483) MESH:D012868 C16.131.831.675|C17.800.804.675 C16.131.831|C17.800.804 Nevus Flammeus|Port Wine Stain|Port-Wine Stains|Stain, Port-Wine|Stains, Port-Wine Congenital abnormality|Skin disease Positive-Pressure Respiration, Intrinsic MESH:D018467 Non-therapeutic positive end-expiratory pressure occurring frequently in patients with severe airway obstruction. It can appear with or without the administration of external positive end-expiratory pressure (POSITIVE-PRESSURE RESPIRATION). It presents an important load on the inspiratory muscles which are operating at a mechanical disadvantage due to hyperinflation. Auto-PEEP may cause profound hypotension that should be treated by intravascular volume expansion, increasing the time for expiration, and/or changing from assist mode to intermittent mandatory ventilation mode. (From Harrison's Principles of Internal Medicine, 12th ed, p1127) MESH:D012131 C08.618.846.688 C08.618.846 Auto PEEP|Auto-PEEP|AutoPEEP|Intrinsic PEEP|Intrinsic Positive-Pressure Respiration|Nontherapeutic Positive Pressure Respiration|Nontherapeutic Positive-Pressure Respiration|Non Therapeutic Positive Pressure Respiration|Non-Therapeutic Positive-Pressure Respiration|Occult PEEP|Occult Positive-Pressure Respiration|PEEP, Intrinsic|PEEP, Occult|Positive Pressure Respiration, Intrinsic|Positive Pressure Respiration, Nontherapeutic|Positive-Pressure Respiration, Nontherapeutic|Positive Pressure Respiration, Non Therapeutic|Positive-Pressure Respiration, Non-Therapeutic|Positive Pressure Respiration, Occult|Positive-Pressure Respiration, Occult|Respiration, Intrinsic Positive-Pressure|Respiration, Nontherapeutic Positive Pressure|Respiration, Nontherapeutic Positive-Pressure|Respiration, Non Therapeutic Positive Pressure|Respiration, Non-Therapeutic Positive-Pressure|Respiration, Occult Positive-Pressure Respiratory tract disease Post-Acute COVID-19 Syndrome MESH:D000094024 Post acute stage of COVID-19 virus infection. Persistent symptoms may include FATIGUE; DYSPNEA; and MEMORY LOSS. MESH:D000086382|MESH:D000094025 C01.748.610.763.500.500|C01.925.705.500.500|C01.925.782.600.550.200.163.500|C08.381.677.807.500.500|C08.730.610.763.500.500|C23.550.291.500.829.375 C01.748.610.763.500|C01.925.705.500|C01.925.782.600.550.200.163|C08.381.677.807.500|C08.730.610.763.500|C23.550.291.500.829 COVID-19, Long Haul|COVID-19 Syndrome, Post-Acute|COVID, Long-Haul|Long COVID|Long Haul COVID|Long-Haul COVID|Long Haul COVID 19|Long Haul COVID-19|Long Haul COVID-19s|Long-Haul COVIDs|Post Acute COVID 19 Syndrome|Post Acute COVID-19 Syndrome|Post-Acute COVID-19 Syndromes|Post Acute Sequelae of SARS CoV 2 Infection|Post-Acute Sequelae of SARS-CoV-2 Infection|Post-COVID Condition|Post COVID Conditions|Post-COVID Conditions Pathology (process)|Respiratory tract disease|Viral disease Postaxial Oligodactyly, Tetramelic MESH:C566767 MESH:D017880 C05.660.585/C566767|C16.131.621.585/C566767 C05.660.585|C16.131.621.585 Congenital abnormality|Musculoskeletal disease Post-Cardiac Arrest Syndrome MESH:D000080942 DO:DOID:0070306 A reperfusion syndrome characterized by various pathophysiological processes after CARDIAC ARREST. It may include post-cardiac arrest brain injury (HYPOXIA-ISCHEMIA, BRAIN), cardiocirculatory dysfunction, (e.g., systemic ISCHEMIA), HYPERGLYCEMIA; MULTIPLE ORGAN FAILURE and delayed death. MESH:D001930|MESH:D006331|MESH:D015427 C10.228.140.199.850|C14.280.778|C14.907.725.638|C23.550.767.877.625 C10.228.140.199|C14.280|C14.907.725|C23.550.767.877 Postcardiac Arrest Syndrome|Post Cardiac Arrest Syndrome|Postcardiac Arrest Syndromes|Post-Cardiac Arrest Syndromes|Postresuscitation Disease|Postresuscitation Diseases Cardiovascular disease|Nervous system disease|Pathology (process) Postcholecystectomy Syndrome MESH:D017562 DO:DOID:9740 Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSEA, and VOMITING. There is pain on palpation of the right upper quadrant and sometimes JAUNDICE. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal. MESH:D001660|MESH:D011183 C06.130.825|C23.550.767.775 C06.130|C23.550.767 Post Cholecystectomy Syndrome|Post-Cholecystectomy Syndrome|Postcholecystectomy Syndromes|Post-Cholecystectomy Syndromes|Postcholedochoduodenostomy Syndrome|Post Choledochoduodenostomy Syndrome|Post-Choledochoduodenostomy Syndrome|Postcholedochoduodenostomy Syndromes|Post-Choledochoduodenostomy Syndromes|Postcholedochojejunostomy Syndrome|Post Choledochojejunostomy Syndrome|Post-Choledochojejunostomy Syndrome|Postcholedochojejunostomy Syndromes|Post-Choledochojejunostomy Syndromes|Postcholedochostomy Syndrome|Post Choledochostomy Syndrome|Post-Choledochostomy Syndrome|Postcholedochostomy Syndromes|Post-Choledochostomy Syndromes|Sump Syndrome|Sump Syndromes|Syndrome, Postcholecystectomy|Syndrome, Post-Cholecystectomy|Syndrome, Postcholedochoduodenostomy|Syndrome, Post-Choledochoduodenostomy|Syndrome, Postcholedochojejunostomy|Syndrome, Post-Choledochojejunostomy|Syndrome, Postcholedochostomy|Syndrome, Post-Choledochostomy|Syndromes, Postcholecystectomy|Syndromes, Post-Cholecystectomy|Syndromes, Postcholedochoduodenostomy|Syndromes, Post-Choledochoduodenostomy|Syndromes, Postcholedochojejunostomy|Syndromes, Post-Choledochojejunostomy|Syndromes, Postcholedochostomy|Syndromes, Post-Choledochostomy|Syndromes, Sump|Syndrome, Sump Digestive system disease|Pathology (process) Post-Concussion Syndrome MESH:D038223 The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging. MESH:D001924 C10.900.300.350.300.500|C26.915.300.450.500.500|C26.974.382.200.500 C10.900.300.350.300|C26.915.300.450.500|C26.974.382.200 Chronic Post-Concussive Syndrome|Chronic Post-Concussive Syndromes|Post-Concussion Symptom|Post Concussion Symptoms|Post-Concussion Symptoms|Post Concussion Syndrome|Post-Concussive Symptom|Post Concussive Symptoms|Post-Concussive Symptoms|Post Concussive Syndrome|Post-Concussive Syndrome|Post Concussive Syndrome, Chronic|Post-Concussive Syndrome, Chronic|Post-Concussive Syndromes|Post-Concussive Syndromes, Chronic Nervous system disease|Wounds and injuries Post-Dural Puncture Headache MESH:D051299 A secondary headache disorder attributed to low CEREBROSPINAL FLUID pressure caused by SPINAL PUNCTURE, usually after dural or lumbar puncture. MESH:D051271 C10.228.140.546.699.124 C10.228.140.546.699 Headache, Postdural Puncture|Headache, Post-Dural Puncture|Headaches, Postdural Puncture|Headaches, Post-Dural Puncture|Postdural Puncture Headache|Post Dural Puncture Headache|Postdural Puncture Headaches|Post-Dural Puncture Headaches|Post-Lumbar Puncture Headache Nervous system disease Posterior Capsular Rupture, Ocular MESH:D057851 A breach in the continuity of the posterior chamber of the eyeball. MESH:D005131 C11.297.500 C11.297 Eye disease Posterior Cervical Sympathetic Syndrome MESH:D055010 DO:DOID:6692 A pathological condition that is characterized by a host of cranial symptoms, such as headaches, abnormal functions of the eyes and the ears, and psychological and mental disorders. This syndrome usually appears after neck injuries, inflammation, or neoplasm. MESH:D013122 C05.116.900.596 C05.116.900 Barre Lieou Syndrome|Barre-Lieou Syndrome|Syndrome, Barre-Lieou|Syndrome of Barre Lieou|Syndrome of Barre-Lieou Musculoskeletal disease Posterior column ataxia MESH:C536342 MESH:D012678|MESH:D013132 C10.228.140.252.700/C536342|C10.228.854.787/C536342|C10.574.500.825/C536342|C10.597.751/C536342|C16.320.400.780/C536342|C23.888.592.763/C536342 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C10.597.751|C16.320.400.780|C23.888.592.763 Biemond ataxia Genetic disease (inborn)|Nervous system disease|Signs and symptoms Posterior column ataxia with retinitis pigmentosa MESH:C536343 OMIM:609033 MESH:D001259|MESH:D012174 C10.597.350.090/C536343|C11.270.684/C536343|C11.768.585.658.500/C536343|C16.320.290.684/C536343|C23.888.592.350.090/C536343 C10.597.350.090|C11.270.684|C11.768.585.658.500|C16.320.290.684|C23.888.592.350.090 AXPC1|PCARP Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Posterior Leukoencephalopathy Syndrome MESH:D054038 A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies). MESH:D020343|MESH:D056784 C10.228.140.631.500.500|C10.228.140.695.875 C10.228.140.631.500|C10.228.140.695 Leukoencephalopathy Syndrome, Posterior|Leukoencephalopathy Syndromes, Posterior|Posterior Reversible Encephalopathy Syndrome|Reversible Posterior Leukoencephalopathy Syndrome|Syndrome, Posterior Leukoencephalopathy|Syndromes, Posterior Leukoencephalopathy Nervous system disease Posterior Tibial Tendon Dysfunction MESH:D037081 A condition characterized by a broad range of progressive disorders ranging from TENOSYNOVITIS to tendon rupture with or without hindfoot collapse to a fixed, rigid, FLATFOOT deformity. Pathologic changes can involve associated tendons, ligaments, joint structures of the ANKLE, hindfoot, and midfoot. Posterior tibial tendon dysfunction is the most common cause of acquired flatfoot deformity in adults. MESH:D005534 C05.360.750 C05.360 Dysfunction, Tibialis Posterior|Posterior Tibial Tendon Insufficiency|Tibialis Posterior Dysfunction|Tibial Tendon Dysfunction, Posterior Musculoskeletal disease Post-Exercise Hypotension MESH:D057774 Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION. MESH:D007022|MESH:D054971 C10.177.575.600.537|C14.907.514.611 C10.177.575.600|C14.907.514 Hypotension, Postexercise|Hypotension, Post Exercise|Hypotension, Post-Exercise|Hypotensions, Postexercise|Hypotensions, Post Exercise|Hypotensions, Post-Exercise|Postexercise Hypotension|Post Exercise Hypotension|Postexercise Hypotensions|Post Exercise Hypotensions|Post-Exercise Hypotensions Cardiovascular disease|Nervous system disease Postgastrectomy Syndromes MESH:D011178 DO:DOID:8439 Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (DUMPING SYNDROME and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies. MESH:D011183|MESH:D013272 C06.405.748.630|C23.550.767.812 C06.405.748|C23.550.767 Postgastrectomy Syndrome|Syndrome, Postgastrectomy|Syndromes, Postgastrectomy Digestive system disease|Pathology (process) Post-Infectious Disorders MESH:D000094025 Debilitating disorder characterized by fatigue and other symptoms related to cognitive, autonomous, and immune dysfunction experienced in the aftermath of infections. MESH:D002908 C23.550.291.500.829 C23.550.291.500 Post Active Phase of Infection Syndrome|Post Infection Syndrome|Post-Infection Syndrome|Post-Infection Syndromes|Post Infectious Disease Syndrome|Post-Infectious Disease Syndrome|Post-Infectious Disease Syndromes|Post Infectious Disorder|Post-Infectious Disorder|Post Infectious Disorders|Syndrome, Post-Infection|Syndrome, Post-Infectious Disease Pathology (process) postintensive care syndrome MESH:C000657744 MESH:D016638 C23.550.291.625/C000657744 C23.550.291.625 post-intensive care syndrome Pathology (process) post laminectomy syndrome MESH:C000711512 MESH:D055111 C23.550.767.225/C000711512|C23.888.592.612.107.200/C000711512 C23.550.767.225|C23.888.592.612.107.200 post-laminectomy syndrome|postlaminectomy syndrome Pathology (process)|Signs and symptoms Post-Lyme Disease Syndrome MESH:D000077342 A condition caused by long-lasting and ongoing infection with the spirochete Borrelia burgdorferi resulting in progressive inflammatory neurologic, neuromuscular, and dermatologic manifestations including ENCEPHALITIS; MYELITIS; acrodermatitis chronica atrophicans; and ARTHRITIS. MESH:D000094025|MESH:D008193 C01.150.252.400.536.850|C01.150.252.400.794.352.250.850|C01.920.930.513.850|C23.550.291.500.829.500 C01.150.252.400.536|C01.150.252.400.794.352.250|C01.920.930.513|C23.550.291.500.829 Chronic Lyme Disease|Lyme Disease, Chronic|Lyme Disease, Post-Treatment|Post Lyme Disease Syndrome|Post-Lyme Disease Syndromes|Post Treatment Lyme Disease|Post-Treatment Lyme Disease|Post Treatment Lyme Disease Syndrome|Post-Treatment Lyme Disease Syndrome|Syndrome, Post-Lyme Disease|Syndromes, Post-Lyme Disease Bacterial infection or mycosis|Pathology (process) Postmastectomy Angiosarcoma MESH:C000608733 MESH:D000072656|MESH:D006394 C04.557.450.795.390/C000608733|C04.557.645.390/C000608733|C15.604.496.160/C000608733|C23.550.767.082/C000608733 C04.557.450.795.390|C04.557.645.390|C15.604.496.160|C23.550.767.082 Post-Mastectomy Angiosarcoma|Postmastectomy Stewart-Treves Syndrome Cancer|Lymphatic disease|Pathology (process) Postmortem Changes MESH:D011180 Physiological changes that occur in bodies after death. MESH:D002102 C23.550.260.224.617 C23.550.260.224 Adipocere|Algor Mortis|Change, Postmortem|Changes, Postmortem|Cruor|Livor Mortis|Postmortem Change Pathology (process) Postoperative Cognitive Complications MESH:D000079690 COGNITIVE IMPAIRMENT or functional decline after a surgical procedure. MESH:D011183|MESH:D060825 C23.550.767.831|F03.615.250.700.500 C23.550.767|F03.615.250.700 Cognitive Complication, Postoperative|Cognitive Decline, Postoperative|Cognitive Disorder, Postoperative|Cognitive Dysfunction, Postoperative|Complication, Postoperative Cognitive|Decline, Postoperative Cognitive|Dementia, Postoperative|Dementias, Postoperative|Disorder, Postoperative Cognitive|Dysfunction, Postoperative Cognitive|Postoperative Cognitive Complication|Postoperative Cognitive Decline|Postoperative Cognitive Disorder|Postoperative Cognitive Disorders|Postoperative Cognitive Dysfunction|Postoperative Dementia|Postoperative Dementias Mental disorder|Pathology (process) Postoperative Complications MESH:D011183 Pathologic processes that affect patients after a surgical procedure. They may or may not be related to the disease for which the surgery was done, and they may or may not be direct results of the surgery. MESH:D010335 C23.550.767 C23.550 Complication, Postoperative|Complications, Postoperative|Postoperative Complication Pathology (process) Postoperative Hemorrhage MESH:D019106 Hemorrhage following any surgical procedure. It may be immediate or delayed and is not restricted to the surgical wound. MESH:D006470|MESH:D011183 C23.550.414.941|C23.550.767.850 C23.550.414|C23.550.767 Blood Loss, Postoperative|Hemorrhage, Postoperative|Hemorrhages, Postoperative|Loss, Postoperative Blood|Postoperative Blood Loss|Postoperative Hemorrhages Pathology (process) Postoperative Nausea and Vomiting MESH:D020250 Emesis and queasiness occurring after anesthesia. MESH:D009325|MESH:D011183|MESH:D014839 C23.550.767.859|C23.888.821.712.700|C23.888.821.937.059 C23.550.767|C23.888.821.712|C23.888.821.937 Emeses, Postoperative|Emesis, Postoperative|Nausea and Vomiting, Postoperative|Nausea, Postoperative|PONV|Postoperative Emeses|Postoperative Emesis|Postoperative Nausea|Postoperative Vomiting|Vomiting, Postoperative Pathology (process)|Signs and symptoms Postpartum Hemorrhage MESH:D006473 Excess blood loss from uterine bleeding associated with OBSTETRIC LABOR or CHILDBIRTH. It is defined as blood loss greater than 500 ml or of the amount that adversely affects the maternal physiology, such as BLOOD PRESSURE and HEMATOCRIT. Postpartum hemorrhage is divided into two categories, immediate (within first 24 hours after birth) or delayed (after 24 hours postpartum). MESH:D007744|MESH:D011644|MESH:D014592 C12.050.703.420.725|C12.050.703.844.700|C23.550.414.993.850 C12.050.703.420|C12.050.703.844|C23.550.414.993 Delayed Postpartum Hemorrhage|Hemorrhage, Delayed Postpartum|Hemorrhage, Immediate Postpartum|Hemorrhage, Postpartum|Immediate Postpartum Hemorrhage|Postpartum Hemorrhage, Delayed|Postpartum Hemorrhage, Immediate Pathology (process)|Pregnancy complication Postpartum Thyroiditis MESH:D050032 Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum. MESH:D011644|MESH:D013967 C12.050.703.844.714|C19.874.871.102.750 C12.050.703.844|C19.874.871.102 Post-partum Thyroiditides|Postpartum Thyroiditides|Post partum Thyroiditis|Post-partum Thyroiditis|Thyroiditides, Post-partum|Thyroiditides, Postpartum|Thyroiditis, Post-partum|Thyroiditis, Postpartum Endocrine system disease|Pregnancy complication Postpericardiotomy Syndrome MESH:D011185 A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN. MESH:D006331|MESH:D011183 C14.280.793|C23.550.767.863 C14.280|C23.550.767 Postcommissurotomy Syndrome|Postcommissurotomy Syndromes|Postpericardiotomy Syndromes|Syndrome, Postcommissurotomy|Syndrome, Postpericardiotomy|Syndromes, Postcommissurotomy|Syndromes, Postpericardiotomy Cardiovascular disease|Pathology (process) Postphlebitic Syndrome MESH:D011186 DO:DOID:2364 A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous VARICOSE VEINS are usually present. Leg pain may occur after long period of standing. MESH:D010689|MESH:D014689 C14.907.617.718.760|C14.907.952.760 C14.907.617.718|C14.907.952 Disease, Postphlebitic|Diseases, Postphlebitic|Postphlebitic Disease|Postphlebitic Diseases|Postphlebitic Syndromes|Postphlebitic Ulcer|Postphlebitic Ulcers|Syndrome, Postphlebitic|Syndromes, Postphlebitic|Ulcer, Postphlebitic|Ulcers, Postphlebitic Cardiovascular disease Postpoliomyelitis Syndrome MESH:D016262 DO:DOID:4952 A syndrome characterized by new neuromuscular symptoms that occur at least 15 years after clinical stability has been attained in patients with a prior history of symptomatic poliomyelitis. Clinical features include new muscular weakness and atrophy of the limbs, bulbar innervated musculature, and muscles of respiration, combined with excessive fatigue, joint pain, and reduced stamina. The process is marked by slow progression and periods of stabilization. (From Ann NY Acad Sci 1995 May 25;753:68-80) MESH:D011051|MESH:D019636|MESH:D020966 C01.207.618.750.750|C01.925.782.687.359.764.650|C05.651.534.750|C10.228.228.618.750.750|C10.228.854.525.850.750|C10.574.827|C10.586.750.850.750|C10.668.491.175.750|C10.668.864.500 C01.207.618.750|C01.925.782.687.359.764|C05.651.534|C10.228.228.618.750|C10.228.854.525.850|C10.574|C10.586.750.850|C10.668.491.175|C10.668.864 Muscular Atrophies, Postpoliomyelitis|Muscular Atrophies, Post-Poliomyelitis|Muscular Atrophy, Postpoliomyelitis|Muscular Atrophy, Post-Poliomyelitis|Postpoliomyelitis Muscular Atrophies|Post-Poliomyelitis Muscular Atrophies|Postpoliomyelitis Muscular Atrophy|Post Poliomyelitis Muscular Atrophy|Post-Poliomyelitis Muscular Atrophy|Post Poliomyelitis Syndrome|Post-Poliomyelitis Syndrome|Post-Polio Syndrome|Post-Polio Syndromes Musculoskeletal disease|Nervous system disease|Viral disease Postthrombotic Syndrome MESH:D054070 A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER. MESH:D014689|MESH:D020246 C14.907.355.830.925.462|C14.907.952.880 C14.907.355.830.925|C14.907.952 Syndrome, Postthrombotic|Syndrome, Venous Stasis|Venous Stasis Syndrome Cardiovascular disease Post-Traumatic Headache MESH:D051298 Secondary headache attributed to TRAUMA of the HEAD and/or the NECK. MESH:D051271 C10.228.140.546.699.249 C10.228.140.546.699 Cervicogenic Headache|Cervicogenic Headaches|Headache, Cervicogenic|Headache, Post-Traumatic|Headaches, Cervicogenic|Headaches, Post-Traumatic|Post Traumatic Headache|Post-Traumatic Headaches Nervous system disease Postural Orthostatic Tachycardia Syndrome MESH:D054972 DO:DOID:0111154 A syndrome of ORTHOSTATIC INTOLERANCE combined with excessive upright TACHYCARDIA, and usually without associated ORTHOSTATIC HYPOTENSION. All variants have in common an excessively reduced venous return to the heart (central HYPOVOLEMIA) while upright. MESH:D054971 C10.177.575.600.625 C10.177.575.600 Postural Tachycardia Syndrome|Syndrome, Postural Tachycardia|Tachycardia Syndrome, Postural Nervous system disease Potassium aggravated myotonia MESH:C538353 OMIM:608390 MESH:D009224 C05.651.662.500/C538353|C10.574.500.545/C538353|C10.668.491.606.500/C538353|C16.320.400.540/C538353 C05.651.662.500|C10.574.500.545|C10.668.491.606.500|C16.320.400.540 Myotonia congenita, acetazolamide-responsive|Myotonia congenita, atypical|MYOTONIA CONGENITA, ATYPICAL LARYNGOSPASM, SEVERE NEONATAL EPISODIC, INCLUDED|MYOTONIA FLUCTUANS|Myotonia permanens|Myotonia, Potassium-Aggravated|Potassium-Aggravated Myotonia|SNEL, INCLUDED|SODIUM CHANNEL MUSCLE DISEASE|Sodium Channel Myotonia Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Potassium Deficiency MESH:D011191 A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed) MESH:D003677 C18.654.521.500.617 C18.654.521.500 Deficiencies, Potassium|Deficiency, Potassium|Potassium Deficiencies Nutrition disorder Potato nose MESH:C538354 MESH:D019465 C05.660.207/C538354|C16.131.621.207/C538354 C05.660.207|C16.131.621.207 Nose, anomalous shape of Congenital abnormality|Musculoskeletal disease Potocki-Lupski syndrome MESH:C538355 DO:DOID:0060853|OMIM:610883 MESH:D000015|MESH:D025063|MESH:D058674 C16.131.077/C538355|C16.131.260/C538355|C16.320.180/C538355|C23.550.210.182/C538355 C16.131.077|C16.131.260|C16.320.180|C23.550.210.182 Chromosome 17p11.2 Duplication Syndrome|Chromosome 17, trisomy 17p11 2|Duplication 17p11 2|Duplication 17p11.2 syndrome|Potocki-Lupski syndrome (dup(17)(p11.2p11.2))|PTLS|Trisomy 17p11 2 Congenital abnormality|Genetic disease (inborn)|Pathology (process) Potocki-Shaffer syndrome MESH:C538356 DO:DOID:0111687|OMIM:601224 MESH:D002872|MESH:D005097|MESH:D025063 C04.557.450.565.575.610.615.325/C538356|C04.700.330/C538356|C05.116.099.708.670.615.325/C538356|C05.116.540.310.500/C538356|C16.131.260/C538356|C16.320.180/C538356|C16.320.700.330/C538356|C23.550.210.050.500.500/C538356 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708.670.615.325|C05.116.540.310.500|C16.131.260|C16.320.180|C16.320.700.330|C23.550.210.050.500.500 Chromosome 11p11.2 Deletion Syndrome|Defect11 Syndrome|Deletion of chromosome 11p11.2|Exostoses, Multiple, Type II|P11PDS|Proximal 11P deletion syndrome|PSS Cancer|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Potter Type III Polycystic Kidney Disease MESH:C566792 MESH:D007690 C12.050.351.968.419.403.875/C566792|C12.200.777.419.403.875/C566792|C12.950.419.403.875/C566792|C16.131.077.717/C566792|C16.320.184.625/C566792 C12.050.351.968.419.403.875|C12.200.777.419.403.875|C12.950.419.403.875|C16.131.077.717|C16.320.184.625 Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Pott Puffy Tumor MESH:D059369 Infection of the FRONTAL BONE often as a complication of FRONTAL SINUSITIS or trauma to the frontal bone and skull. It is characterized by subperiosteal abscess with OSTEOMYELITIS. MESH:D009916|MESH:D010019 C01.160.495.875|C05.116.165.495.750|C11.675.689 C01.160.495|C05.116.165.495|C11.675 Pott's Puffy Tumor|Potts Puffy Tumor|Puffy Tumor, Pott|Puffy Tumor, Pott's|Tumor, Pott Puffy|Tumor, Pott's Puffy Eye disease|Musculoskeletal disease Pouchitis MESH:D019449 Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE). MESH:D007079 C06.405.205.462.624.500|C06.405.469.326.875.500|C06.405.469.420.520.500 C06.405.205.462.624|C06.405.469.326.875|C06.405.469.420.520 Ileitis, Pouch|Pouch Ileitis Digestive system disease Poult Enteritis Mortality Syndrome MESH:D031261 An acute, transmissible, infectious disease associated with high MORTALITY and MORBIDITY in young turkeys (poults). It is characterized by DIARRHEA; ANOREXIA; growth depression, and immune dysfunction. The cause is unknown but astroviruses (AVASTROVIRUS) and coronaviruses (CORONAVIRUS, TURKEY) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections. MESH:D007239|MESH:D011201 C01.655|C22.131.728.650 C01|C22.131.728 Mortality Syndrome, Spiking|Spiking Mortality Syndrome Animal disease Poultry Diseases MESH:D011201 Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from BIRD DISEASES which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild. MESH:D001715 C22.131.728 C22.131 Disease, Poultry|Diseases, Poultry|Poultry Disease Animal disease Powell Chandra Saal syndrome MESH:C538357 MESH:D000015|MESH:D006330|MESH:D011625|MESH:D017880 C05.660.585/C538357|C11.187.781/C538357|C14.240.400/C538357|C14.280.400/C538357|C16.131.077/C538357|C16.131.240.400/C538357|C16.131.621.585/C538357 C05.660.585|C11.187.781|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.585 PHAVER syndrome|Vertebral, radial, congenital heart, and ear defects Cardiovascular disease|Congenital abnormality|Eye disease|Musculoskeletal disease Powell Venencie Gordon syndrome MESH:C538358 MESH:D007645|MESH:D009128 C05.651.512/C538358|C10.597.613.550.550/C538358|C16.320.850.475/C538358|C17.800.428.435/C538358|C17.800.827.475/C538358|C23.888.592.608.550.550/C538358 C05.651.512|C10.597.613.550.550|C16.320.850.475|C17.800.428.435|C17.800.827.475|C23.888.592.608.550.550 Keratoderma and spastic paralysis|Punctate keratoderma and spastic paralysis Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Poxviridae Infections MESH:D011213 DO:DOID:8729 Virus diseases caused by the POXVIRIDAE. MESH:D004266 C01.925.256.743 C01.925.256 Infection, Poxviridae|Infection, Poxvirus|Infections, Poxviridae|Infections, Poxvirus|Milker Nodes|Milker's Node|Milker's Nodes|Milkers Nodes|Node, Milker's|Nodes, Milker's|Poxviridae Infection|Poxvirus Infection|Poxvirus Infections Viral disease Prader-Willi habitus, osteopenia, and camptodactyly MESH:C538276 MESH:D010024|MESH:D011218 C05.116.198.579/C538276|C10.597.606.360.690/C538276|C16.131.077.730/C538276|C16.131.260.700/C538276|C16.320.180.700/C538276|C18.452.104.579/C538276|C18.654.726.750.500.740/C538276 C05.116.198.579|C10.597.606.360.690|C16.131.077.730|C16.131.260.700|C16.320.180.700|C18.452.104.579|C18.654.726.750.500.740 Urban Rogers Meyer syndrome|Urban-Rogers-Meyer Syndrome Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Nutrition disorder Prader-Willi-Like Syndrome Associated With Chromosome 6 MESH:C566764 MESH:D002872|MESH:D011218 C10.597.606.360.690/C566764|C16.131.077.730/C566764|C16.131.260.700/C566764|C16.320.180.700/C566764|C18.654.726.750.500.740/C566764|C23.550.210.050.500.500/C566764 C10.597.606.360.690|C16.131.077.730|C16.131.260.700|C16.320.180.700|C18.654.726.750.500.740|C23.550.210.050.500.500 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Nutrition disorder|Pathology (process) Prader-Willi Syndrome MESH:D011218 DO:DOID:11983|OMIM:176270 An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) MESH:D000015|MESH:D008607|MESH:D009765|MESH:D025063 C10.597.606.360.690|C16.131.077.730|C16.131.260.700|C16.320.180.700|C18.654.726.750.500.740 C10.597.606.360|C16.131.077|C16.131.260|C16.320.180|C18.654.726.750.500 Labhart Willi Prader Fanconi Syndrome|Labhart-Willi-Prader-Fanconi Syndrome|Labhart Willi Syndrome|Labhart-Willi Syndrome|Prader Labhart Willi Syndrome|Prader-Labhart-Willi Syndrome|PRADER-LABHART-WILLI SYNDROME PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED|PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED|Prader Willi Syndrome|PWCR, INCLUDED|PWS|Royer's Syndrome|Royers Syndrome|Royer Syndrome|Syndrome, Labhart-Willi|Syndrome, Labhart-Willi-Prader-Fanconi|Syndrome, Prader-Labhart-Willi|Syndrome, Prader-Willi|Syndrome, Royer|Syndrome, Royer's|Syndrome, Willi-Prader|Willi Prader Syndrome|Willi-Prader Syndrome Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Nutrition disorder Preauricular Fistulae, Congenital MESH:C563015 OMIM:128700 MESH:D019465 C05.660.207/C563015|C16.131.621.207/C563015 C05.660.207|C16.131.621.207 Ear Pits|PAFC Congenital abnormality|Musculoskeletal disease Preauricular Tag, Isolated, Autosomal Dominant, 1 MESH:C566904 MESH:D004427 C09.218/C566904 C09.218 Ear-nose-throat disease Preaxial deficiency, postaxial polydactyly and hypospadias MESH:C538278 DO:DOID:0111544|OMIM:176305 MESH:D000015|MESH:D007021|MESH:D017689 C05.660.585.600/C538278|C12.050.351.875.466/C538278|C12.100.500.494.400/C538278|C12.200.294.494.400/C538278|C12.200.706.516/C538278|C12.800.516/C538278|C16.131.077/C538278|C16.131.621.585.600/C538278|C16.131.939.516/C538278 C05.660.585.600|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.077|C16.131.621.585.600|C16.131.939.516 Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias|Guttmacher syndrome|Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Preaxial Hallucal Polydactyly MESH:C566632 MESH:D017689 C05.660.585.600/C566632|C16.131.621.585.600/C566632 C05.660.585.600|C16.131.621.585.600 Congenital abnormality|Musculoskeletal disease Precancerous Conditions MESH:D011230 Pathological conditions that tend eventually to become malignant. MESH:D009369 C04.834 C04 Condition, Precancerous|Condition, Preneoplastic|Conditions, Precancerous|Conditions, Preneoplastic|Precancerous Condition|Preneoplastic Condition|Preneoplastic Conditions Cancer Preconception Injuries MESH:D047489 Damages to reproductive health prior to conception (FERTILIZATION), a legal term for torts liability concerning environmental safety issues. Preconception injuries may involve either the male or the female, such as chromosomal mutations in the OVA or the SPERMATOZOA. MESH:D007280 C21.676 C21 Injuries, Preconception|Injury, Preconception|Preconception Injury Environmental origin disorders Precursor B-Cell Lymphoblastic Leukemia-Lymphoma MESH:D015452 A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia. MESH:D054198 C04.557.337.428.600.600|C15.604.515.560.600.600|C20.683.515.528.600.600 C04.557.337.428.600|C15.604.515.560.600|C20.683.515.528.600 Leukemia, Pre B Cell|Leukemia, Pre-B-Cell|Leukemias, Pre-B-Cell|Pre B ALL|Pre B-ALL|Pre-B ALL|Pre B Cell Leukemia|Pre-B-Cell Leukemia|Pre-B-Cell Leukemias|Precursor B Cell Lymphoblastic Leukemia|Precursor B-Cell Lymphoblastic Leukemia|Precursor B Cell Lymphoblastic Leukemia Lymphoma|Precursor B Cell Lymphoblastic Lymphoma|Precursor B-Cell Lymphoblastic Lymphoma Cancer|Immune system disease|Lymphatic disease Precursor Cell Lymphoblastic Leukemia-Lymphoma MESH:D054198 OMIM:613065|OMIM:613067|OMIM:615545 A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias. MESH:D007945 C04.557.337.428.600|C15.604.515.560.600|C20.683.515.528.600 C04.557.337.428|C15.604.515.560|C20.683.515.528 Acute Lymphoblastic Leukemia|Acute Lymphocytic Leukemia|Acute Lymphoid Leukemia|ALL|ALL1, INCLUDED|ALL2|ALL3|ALL, Childhood|Childhood ALL|L1 Lymphocytic Leukemia|L2 Lymphocytic Leukemia|Leukemia, Acute Lymphoblastic|LEUKEMIA, ACUTE LYMPHOBLASTIC, B-HYPERDIPLOID, SUSCEPTIBILITY TO, INCLUDED|LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 1, INCLUDED|LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2|LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3|Leukemia, Acute Lymphocytic|LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 1, INCLUDED|LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 2|Leukemia, Acute Lymphoid|LEUKEMIA, B-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, INCLUDED|Leukemia, L1 Lymphocytic|Leukemia, L2 Lymphocytic|Leukemia, Lymphoblastic|Leukemia, Lymphoblastic, Acute|Leukemia, Lymphoblastic, Acute, L1|Leukemia, Lymphoblastic, Acute, L2|Leukemia, Lymphoblastic, Acute, Philadelphia-Positive|Leukemia, Lymphocytic, Acute|Leukemia, Lymphocytic, Acute, L1|Leukemia, Lymphocytic, Acute, L2|Leukemia, Lymphoid, Acute|LEUKEMIA, T-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, INCLUDED|Lymphoblastic Leukemia|Lymphoblastic Leukemia, Acute|Lymphoblastic Leukemia, Acute, Adult|Lymphoblastic Leukemia, Acute, Childhood|Lymphoblastic Leukemia, Acute, L1|Lymphoblastic Leukemia, Acute, L2|Lymphoblastic Lymphoma|Lymphocytic Leukemia, Acute|Lymphocytic Leukemia, L1|Lymphocytic Leukemia, L2|Lymphoid Leukemia, Acute|Lymphoma, Lymphoblastic|Precursor Cell Lymphoblastic Leukemia Lymphoma Cancer|Immune system disease|Lymphatic disease Precursor T-Cell Lymphoblastic Leukemia-Lymphoma MESH:D054218 A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common. MESH:D054198 C04.557.337.428.600.620|C15.604.515.560.600.620|C20.683.515.528.600.620 C04.557.337.428.600|C15.604.515.560.600|C20.683.515.528.600 Acute T-Cell Leukemia|Acute T-Cell Leukemias|Acute T-Lymphocytic Leukemia|Acute T-Lymphocytic Leukemias|Leukemia, Acute T-Cell|Leukemia, Acute T-Lymphocytic|Leukemia, Lymphoblastic, Acute, T Cell|Leukemia, Lymphoblastic, Acute, T-Cell|Leukemia, Lymphocytic, Acute T Cell|Leukemia, Lymphocytic, Acute, T-Cell|Leukemias, Acute T-Cell|Leukemias, Acute T-Lymphocytic|Leukemia, T-Cell, Acute|Lymphoblastic Leukemia, Acute, T Cell|Lymphoblastic Leukemia, Acute, T-Cell|Lymphocytic Leukemia, T Cell, Acute|Lymphocytic Leukemia, T-Cell, Acute|Precursor T Cell Lymphoblastic Leukemia|Precursor T-Cell Lymphoblastic Leukemia|Precursor T Cell Lymphoblastic Leukemia Lymphoma|Precursor T Cell Lymphoblastic Lymphoma|Precursor T-Cell Lymphoblastic Lymphoma|T-ALL|T-Cell Acute Lymphocytic Leukemia|T Cell Leukemia, Acute|T-Cell Leukemia, Acute|T-Cell Leukemias, Acute|T Lymphocytic Leukemia, Acute|T-Lymphocytic Leukemia, Acute|T-Lymphocytic Leukemias, Acute Cancer|Immune system disease|Lymphatic disease Prediabetic State MESH:D011236 DO:DOID:11716 The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2). MESH:D003920 C18.452.394.750.774|C19.246.774 C18.452.394.750|C19.246 Prediabetes|Prediabetic States|State, Prediabetic|States, Prediabetic Endocrine system disease|Metabolic disease Pre-Eclampsia MESH:D011225 DO:DOID:10591|OMIM:189800|OMIM:614595 A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease. MESH:D046110 C12.050.703.395.249 C12.050.703.395 1, Preeclampsia Eclampsia|1s, Preeclampsia Eclampsia|Eclampsia 1, Preeclampsia|Eclampsia 1s, Preeclampsia|Edema Proteinuria Hypertension Gestosis|Edema-Proteinuria-Hypertension Gestosis|EPH Complex|EPH Gestosis|EPH Toxemia|EPH Toxemias|Gestosis, Edema-Proteinuria-Hypertension|Gestosis, EPH|Gestosis, Hypertension-Edema-Proteinuria|Gestosis, Proteinuria-Edema-Hypertension|HELLP, INCLUDED|HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT, INCLUDED|Hypertension Edema Proteinuria Gestosis|Hypertension-Edema-Proteinuria Gestosis|Of Pregnancies, Toxemia|Of Pregnancy, Toxemia|PEE|PEE1|PEE5|Preeclampsia|Pre Eclampsia|Preeclampsia Eclampsia 1|PREECLAMPSIA/ECLAMPSIA 1|Preeclampsia Eclampsia 1s|PREECLAMPSIA/ECLAMPSIA 5|PREG1|Pregnancies, Toxemia Of|Pregnancy Toxemia|Pregnancy, Toxemia Of|Pregnancy Toxemias|Proteinuria Edema Hypertension Gestosis|Proteinuria-Edema-Hypertension Gestosis|Toxemia, EPH|Toxemia Of Pregnancies|Toxemia Of Pregnancy|TOXEMIA OF PREGNANCY HYPERTENSION, PREGNANCY-INDUCED, INCLUDED|Toxemia, Pregnancy|Toxemias, EPH|Toxemias, Pregnancy Pregnancy complication Preeclampsia Eclampsia 2 MESH:C563726 OMIM:609402 MESH:D011225 C12.050.703.395.249/C563726 C12.050.703.395.249 PEE2|PREECLAMPSIA/ECLAMPSIA 2 Pregnancy complication Preeclampsia Eclampsia 3 MESH:C563725 OMIM:609403 MESH:D011225 C12.050.703.395.249/C563725 C12.050.703.395.249 PEE3|PREECLAMPSIA/ECLAMPSIA 3 Pregnancy complication Preeclampsia Eclampsia 4 MESH:C563724 OMIM:609404 MESH:D011225 C12.050.703.395.249/C563724 C12.050.703.395.249 PEE4|PREECLAMPSIA/ECLAMPSIA 4 Pregnancy complication Preeclamptic toxemia MESH:C538543 MESH:D011225 C12.050.703.395.249/C538543 C12.050.703.395.249 Pregnancy complication Pre-Excitation, Mahaim-Type MESH:D011227 A form of ventricular pre-excitation characterized by a normal PR interval and a long QRS interval with an initial slow deflection (delta wave). In this syndrome, the atrial impulse travel to the ventricle via the MAHAIM FIBERS which connect ATRIOVENTRICULAR NODE directly to the right ventricle wall (NODOVENTRICULAR ACCESSORY PATHWAY) or to the RIGHT BUNDLE BRANCH OF HIS (nodofascicular accessory pathway). MESH:D011226 C14.280.067.780.770|C14.280.123.750.770 C14.280.067.780|C14.280.123.750 Mahaim Type Preexcitation|Mahaim-Type Preexcitation|Mahaim Type Pre Excitation|Mahaim-Type Pre-Excitation|Mahaim Type Pre Excitation, Nodofascicular|Mahaim-Type Pre-Excitation, Nodofascicular|Mahaim Type Pre Excitation, Nodoventricular|Mahaim-Type Pre-Excitation, Nodoventricular|Nodofascicular Mahaim Type Pre Excitation|Nodofascicular Mahaim-Type Pre-Excitation|Nodoventricular Mahaim Type Pre Excitation|Nodoventricular Mahaim-Type Pre-Excitation|Preexcitation, Mahaim-Type|Pre Excitation, Mahaim Type|Pre-Excitation, Nodofascicular Mahaim-Type|Pre-Excitation, Nodoventricular Mahaim-Type Cardiovascular disease Pre-Excitation Syndromes MESH:D011226 A group of conditions in which HEART VENTRICLE activation by the atrial impulse is faster than the normal impulse conduction from the SINOATRIAL NODE. In these pre-excitation syndromes, atrial impulses often bypass the ATRIOVENTRICULAR NODE delay and travel via ACCESSORY CONDUCTING PATHWAYS connecting the atrium directly to the BUNDLE OF HIS. MESH:D000075224|MESH:D001145 C14.280.067.780|C14.280.123.750 C14.280.067|C14.280.123 Preexcitation Syndrome|Pre-Excitation Syndrome|Preexcitation Syndromes|Pre Excitation Syndromes Cardiovascular disease Preeyasombat Varavithya syndrome MESH:C535269 MESH:D005198 C12.050.351.968.419.815.450/C535269|C12.200.777.419.815.450/C535269|C12.950.419.815.450/C535269|C16.320.831.450/C535269 C12.050.351.968.419.815.450|C12.200.777.419.815.450|C12.950.419.815.450|C16.320.831.450 Fanconi syndrome caused by degraded tetracycline Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Pregnancy, Abdominal MESH:D011269 A type of ectopic pregnancy in which the EMBRYO, MAMMALIAN implants in the ABDOMINAL CAVITY instead of in the ENDOMETRIUM of the UTERUS. MESH:D011271 C12.050.703.733.536 C12.050.703.733 Abdominal Pregnancies|Abdominal Pregnancy|Pregnancies, Abdominal Pregnancy complication Pregnancy, Angular MESH:D065170 A rare type of abnormal pregnancy in which EMBRYO IMPLANTATION occurs at a lateral angle of the UTERUS, medial to the uterotubal junction and the ROUND LIGAMENT OF UTERUS. MESH:D011271 C12.050.703.733.619 C12.050.703.733 Angular Pregnancies|Angular Pregnancy|Pregnancies, Angular Pregnancy complication Pregnancy Complications MESH:D011248 DO:DOID:780 Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases. MESH:D005261 C12.050.703 C12.050 Adverse Birth Outcome|Adverse Birth Outcomes|Birth Outcome, Adverse|Complication, Pregnancy|Complications, Pregnancy|Outcome, Adverse Birth|Pregnancy Complication Pregnancy complication Pregnancy Complications, Cardiovascular MESH:D011249 The co-occurrence of pregnancy and a cardiovascular disease. The disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS. MESH:D002318|MESH:D011248 C12.050.703.634|C14.583 C12.050.703|C14 Cardiovascular Pregnancy Complication|Cardiovascular Pregnancy Complications|Complication, Cardiovascular Pregnancy|Complications, Cardiovascular Pregnancy|Pregnancies, Cardiovascular Complications|Pregnancy, Cardiovascular Complications|Pregnancy Complication, Cardiovascular Cardiovascular disease|Pregnancy complication Pregnancy Complications, Hematologic MESH:D011250 The co-occurrence of pregnancy and a blood disease (HEMATOLOGIC DISEASES) which involves BLOOD CELLS or COAGULATION FACTORS. The hematologic disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS. MESH:D006402|MESH:D011248 C12.050.703.667|C15.378.785 C12.050.703|C15.378 Complication, Hematological Pregnancy|Complication, Hematologic Pregnancy|Complications, Hematological Pregnancy|Complications, Hematologic Pregnancy|Hematological Pregnancy Complication|Hematological Pregnancy Complications|Hematologic Pregnancy Complication|Hematologic Pregnancy Complications|Pregnancies, Hematologic Complications|Pregnancy Complication, Hematologic|Pregnancy Complication, Hematological|Pregnancy Complications, Hematological|Pregnancy, Hematologic Complications Blood disease|Pregnancy complication Pregnancy Complications, Infectious MESH:D011251 The co-occurrence of pregnancy and an INFECTION. The infection may precede or follow FERTILIZATION. MESH:D007239|MESH:D011248 C01.674|C12.050.703.700 C01|C12.050.703 Complications, Infectious Pregnancy|Infectious Pregnancy Complication|Infectious Pregnancy Complications|Maternal Sepsis|Pregnancy Complication, Infectious|Pregnancy, Infectious Complications|Sepsis during Pregnancy|Sepsis in Pregnancies|Sepsis in Pregnancy|Sepsis, Maternal Pregnancy complication Pregnancy Complications, Neoplastic MESH:D011252 The co-occurrence of pregnancy and NEOPLASMS. The neoplastic disease may precede or follow FERTILIZATION. MESH:D009369|MESH:D011248 C04.850|C12.050.703.720 C04|C12.050.703 Complication, Neoplastic Pregnancy|Complications, Neoplastic Pregnancy|Neoplastic Pregnancy Complication|Neoplastic Pregnancy Complications|Pregnancies, Neoplastic Complications|Pregnancy Complication, Neoplastic|Pregnancy, Neoplastic Complications Cancer|Pregnancy complication Pregnancy Complications, Parasitic MESH:D015597 The co-occurrence of pregnancy and parasitic diseases. The parasitic infection may precede or follow FERTILIZATION. MESH:D010272|MESH:D011251 C01.610.718|C12.050.703.700.680 C01.610|C12.050.703.700 Complication, Parasitic Pregnancy|Complications, Parasitic Pregnancy|Complications Pregnancies, Parasitic|Complications Pregnancy, Parasitic|Parasitic Complications Pregnancies|Parasitic Complications Pregnancy|Parasitic Pregnancy Complication|Parasitic Pregnancy Complications|Pregnancies, Parasitic Complications|Pregnancy Complication, Parasitic|Pregnancy, Parasitic Complications Parasitic disease|Pregnancy complication Pregnancy, Cornual MESH:D065173 A type of pregnancy in which the EMBRYO IMPLANTATION occurs in the horn of the UTERUS instead of in the uterine cavity, i.e. at the junction of the uterus and one of the FALLOPIAN TUBES. MESH:D011271 C12.050.703.733.640 C12.050.703.733 Cornual Pregnancies|Cornual Pregnancy|Pregnancies, Cornual Pregnancy complication Pregnancy, Ectopic MESH:D011271 DO:DOID:0060329 A potentially life-threatening condition in which EMBRYO IMPLANTATION occurs outside the cavity of the UTERUS. Most ectopic pregnancies (>96%) occur in the FALLOPIAN TUBES, known as TUBAL PREGNANCY. They can be in other locations, such as UTERINE CERVIX; OVARY; and abdominal cavity (PREGNANCY, ABDOMINAL). MESH:D011248 C12.050.703.733 C12.050.703 Ectopic Pregnancies|Ectopic Pregnancy|Extrauterine Pregnancies|Extrauterine Pregnancy|Pregnancies, Ectopic|Pregnancies, Extrauterine|Pregnancy, Extrauterine Pregnancy complication Pregnancy, Heterotopic MESH:D063192 MULTIPLE PREGNANCY with EMBRYO IMPLANTATION occuring at different locations, involving both an intrauterine site and an extrauterine (ECTOPIC PREGNANCY) site. MESH:D011271 C12.050.703.733.650 C12.050.703.733 Heterotopic Pregnancies|Heterotopic Pregnancy|Pregnancies, Heterotopic Pregnancy complication Pregnancy in Diabetics MESH:D011254 The state of PREGNANCY in women with DIABETES MELLITUS. This does not include either symptomatic diabetes or GLUCOSE INTOLERANCE induced by pregnancy (DIABETES, GESTATIONAL) which resolves at the end of pregnancy. MESH:D011248 C12.050.703.726 C12.050.703 Pregnancy in Diabete|Pregnancy in Diabetes|Pregnancy in Diabetic Pregnancy complication Pregnancy, Interstitial MESH:D065167 A type of ectopic pregnancy in which the extrauterine EMBRYO IMPLANTATION occurs in the portion of the FALLOPIAN TUBE that traverses the muscular wall of the uterus. MESH:D011274 C12.050.703.733.703.500 C12.050.703.733.703 Interstitial Pregnancies|Interstitial Pregnancy|Pregnancies, Interstitial Pregnancy complication PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1 OMIM:614389 MESH:D000022 C12.050.703.039/614389 C12.050.703.039 ABORTION, SPONTANEOUS, RECURRENT|EMBRYONIC LOSS, RECURRENT|FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO|MISCARRIAGE, RECURRENT|RPL|RPRGL|RPRGL1|STILLBIRTH, RECURRENT Pregnancy complication PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2 OMIM:614390 MESH:D000022 C12.050.703.039/614390 C12.050.703.039 RPRGL2 Pregnancy complication PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3 OMIM:614391 MESH:D000022 C12.050.703.039/614391 C12.050.703.039 RPRGL3 Pregnancy complication Pregnancy, Ovarian MESH:D065172 A type of pregnancy in which EMBRYO IMPLANTATION occurs in an OVARY instead of in the uterine cavity. MESH:D011271 C12.050.703.733.661 C12.050.703.733 Ovarian Pregnancies|Ovarian Pregnancy|Pregnancies, Ovarian Pregnancy complication Pregnancy, Prolonged MESH:D011273 A term used to describe pregnancies that exceed the upper limit of a normal gestational period. In humans, a prolonged pregnancy is defined as one that extends beyond 42 weeks (294 days) after the first day of the last menstrual period (MENSTRUATION), or birth with gestational age of 41 weeks or more. MESH:D011248 C12.050.703.805 C12.050.703 Pregnancies, Prolonged|Prolonged Pregnancies|Prolonged Pregnancy Pregnancy complication Pregnancy, Tubal MESH:D011274 The most common (>96%) type of ectopic pregnancy in which the extrauterine EMBRYO IMPLANTATION occurs in the FALLOPIAN TUBE, usually in the ampullary region where FERTILIZATION takes place. MESH:D011271 C12.050.703.733.703 C12.050.703.733 Pregnancies, Tubal|Tubal Pregnancies|Tubal Pregnancy Pregnancy complication Prehypertension MESH:D058246 Blood pressure levels that are between normotension and hypertension. Individuals with prehypertension are at a higher risk for developing cardiovascular diseases. Generally, prehypertension is defined as SYSTOLIC PRESSURE of 131-139 mm Hg and/or DIASTOLIC PRESSURE of 81-89 when the optimal is 120/80 mm Hg. For diabetics and other metabolism diseases the prehypertension is around 110-129/70-79 mm Hg. MESH:D014652 C14.907.653 C14.907 Pre Hypertension|Pre-Hypertension|Prehypertensions|Pre-Hypertensions Cardiovascular disease Prekallikrein Deficiency MESH:C562725 OMIM:612423 MESH:D001778 C15.378.100/C562725 C15.378.100 Fletcher Factor Deficiency|PKKD|PKK Deficiency Blood disease Preleukemia MESH:D011289 Conditions in which the abnormalities in the peripheral blood or bone marrow represent the early manifestations of acute leukemia, but in which the changes are not of sufficient magnitude or specificity to permit a diagnosis of acute leukemia by the usual clinical criteria. MESH:D006402|MESH:D011230 C04.834.770|C15.378.800 C04.834|C15.378 Preleukemias Blood disease|Cancer Premature aging, Okamoto type MESH:C535270 MESH:D000015|MESH:D002386|MESH:D003920|MESH:D006130|MESH:D010024|MESH:D012516 C04.557.450.565.575.650/C535270|C04.557.450.795.620/C535270|C05.116.198.579/C535270|C11.510.245/C535270|C16.131.077/C535270|C18.452.104.579/C535270|C18.452.394.750/C535270|C19.246/C535270|C23.550.393/C535270 C04.557.450.565.575.650|C04.557.450.795.620|C05.116.198.579|C11.510.245|C16.131.077|C18.452.104.579|C18.452.394.750|C19.246|C23.550.393 Cancer|Congenital abnormality|Endocrine system disease|Eye disease|Metabolic disease|Musculoskeletal disease|Pathology (process) Premature Aging Syndrome, Okamoto Type MESH:C566621 MESH:D011371 C16.320.488.875/C566621|C16.320.565.753/C566621|C18.452.648.753/C566621 C16.320.488.875|C16.320.565.753|C18.452.648.753 Genetic disease (inborn)|Metabolic disease Premature Birth MESH:D047928 CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION). MESH:D007752 C12.050.703.420.491.500 C12.050.703.420.491 Birth, Premature|Birth, Preterm|Births, Premature|Births, Preterm|Premature Births|Preterm Birth|Preterm Births Pregnancy complication PREMATURE CHROMATID SEPARATION TRAIT OMIM:176430 MESH:D002869 C23.550.210/176430 C23.550.210 PCS|TOTAL PREMATURE CHROMATID SEPARATION TRAIT Pathology (process) Premature Ejaculation MESH:D061686 DO:DOID:13709 The emission of SEMEN and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration. MESH:D005832|MESH:D012735|MESH:D020018 C12.100.500.530|C12.100.875.743|C12.200.294.530|F03.835.700 C12.100.500|C12.100.875|C12.200.294|F03.835 Ejaculation, Premature|Ejaculations, Premature|Ejaculatio Praecox|Ejaculatio Praecoxs|Praecox, Ejaculatio|Praecoxs, Ejaculatio|Premature Ejaculations Mental disorder|Urogenital disease (male) PREMATURE OVARIAN FAILURE 10 OMIM:612885 DO:DOID:0080867 MESH:D016649 C12.050.351.500.056.630.750/612885|C12.100.250.056.630.750/612885|C19.391.630.750/612885 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 3, INCLUDED|MENOQ3, INCLUDED|POF10 Endocrine system disease|Urogenital disease (female) PREMATURE OVARIAN FAILURE 11 OMIM:616946 DO:DOID:0080868|DO:DOID:0080869 MESH:D016649 C12.050.351.500.056.630.750/616946|C12.100.250.056.630.750/616946|C19.391.630.750/616946 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 POF11 Endocrine system disease|Urogenital disease (female) PREMATURE OVARIAN FAILURE 12 OMIM:616947 MESH:D016649 C12.050.351.500.056.630.750/616947|C12.100.250.056.630.750/616947|C19.391.630.750/616947 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 POF12 Endocrine system disease|Urogenital disease (female) PREMATURE OVARIAN FAILURE 13 OMIM:617442 DO:DOID:0080870 MESH:D016649 C12.050.351.500.056.630.750/617442|C12.100.250.056.630.750/617442|C19.391.630.750/617442 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 POF13 Endocrine system disease|Urogenital disease (female) Premature Ovarian Failure 2a MESH:C564498 OMIM:300511 MESH:D016649|MESH:D040181 C12.050.351.500.056.630.750/C564498|C12.100.250.056.630.750/C564498|C16.320.322/C564498|C19.391.630.750/C564498 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C16.320.322|C19.391.630.750 POF2A Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female) Premature Ovarian Failure 2b MESH:C564476 OMIM:300604 MESH:D016649 C12.050.351.500.056.630.750/C564476|C12.100.250.056.630.750/C564476|C19.391.630.750/C564476 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 POF2B Endocrine system disease|Urogenital disease (female) Premature Ovarian Failure 3 MESH:C563816 OMIM:608996 MESH:D016649 C12.050.351.500.056.630.750/C563816|C12.100.250.056.630.750/C563816|C19.391.630.750/C563816 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 POF3 Endocrine system disease|Urogenital disease (female) Premature Ovarian Failure 5 MESH:C566921 OMIM:611548 MESH:D016649 C12.050.351.500.056.630.750/C566921|C12.100.250.056.630.750/C566921|C19.391.630.750/C566921 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 Pof5 Endocrine system disease|Urogenital disease (female) Premature Ovarian Failure 6 MESH:C567351 OMIM:612310 MESH:D016649 C12.050.351.500.056.630.750/C567351|C12.100.250.056.630.750/C567351|C19.391.630.750/C567351 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 POF6 Endocrine system disease|Urogenital disease (female) Premature Ovarian Failure 7 MESH:C567838 OMIM:612964 MESH:D016649 C12.050.351.500.056.630.750/C567838|C12.100.250.056.630.750/C567838|C19.391.630.750/C567838 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 ADRENAL INSUFFICIENCY, NR5A1-RELATED, INCLUDED|Pof7 Endocrine system disease|Urogenital disease (female) PREMATURE OVARIAN FAILURE 8 OMIM:615723 DO:DOID:0080865 MESH:D016649 C12.050.351.500.056.630.750/615723|C12.100.250.056.630.750/615723|C19.391.630.750/615723 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 POF8 Endocrine system disease|Urogenital disease (female) PREMATURE OVARIAN FAILURE 9 OMIM:615724 DO:DOID:0080866 MESH:D016649 C12.050.351.500.056.630.750/615724|C12.100.250.056.630.750/615724|C19.391.630.750/615724 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 POF9 Endocrine system disease|Urogenital disease (female) Premature ovarian failure, familial MESH:C535272 MESH:D016649 C12.050.351.500.056.630.750/C535272|C12.100.250.056.630.750/C535272|C19.391.630.750/C535272 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 Familial premature ovarian failure|Idiopathic familial premature ovarian failure Endocrine system disease|Urogenital disease (female) Premenstrual Dysphoric Disorder MESH:D065446 A condition in which a woman suffers from severe depression, irritability, and tension before MENSTRUATION. Premenstrual dysphoric disorder (PMDD) may involve a wide range of physical or emotional symptoms, which are more severe and debilitating than those seen with premenstrual syndrome (PMS), and which include at least one mood-related symptom. Symptoms usually stop when, or shortly after, menstruation begins. MESH:D003866|MESH:D011293 C23.550.568.968.500|F03.600.300.550 C23.550.568.968|F03.600.300 Disorder, Premenstrual Dysphoric|Dysphoric Disorder, Premenstrual|Premenstrual Dysphoric Syndrome|Syndrome, Premenstrual Dysphoric Mental disorder|Pathology (process) Premenstrual Syndrome MESH:D011293 DO:DOID:727 A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses. MESH:D008599 C23.550.568.968 C23.550.568 Premenstrual Syndromes|Premenstrual Tension|Premenstrual Tensions|Syndrome, Premenstrual|Syndromes, Premenstrual|Tension, Premenstrual|Tensions, Premenstrual Pathology (process) Prenatal Bowing MESH:C564873 MESH:D001848 C05.116.099/C564873 C05.116.099 Musculoskeletal disease Prenatal Cortical Hyperostosis, Lethal MESH:C566184 MESH:D006958 C05.116.099.708.479/C566184|C05.116.540.400/C566184|C16.614.465/C566184 C05.116.099.708.479|C05.116.540.400|C16.614.465 Infant-newborn disease|Musculoskeletal disease Prenatal Exposure Delayed Effects MESH:D011297 The consequences of exposing the FETUS in utero to certain factors, such as NUTRITION PHYSIOLOGICAL PHENOMENA; PHYSIOLOGICAL STRESS; DRUGS; RADIATION; and other physical or chemical factors. These consequences are observed later in the offspring after BIRTH. MESH:D049188 C12.050.703.824.500 C12.050.703.824 Delayed Effects, Prenatal Exposure|Late Effects, Prenatal Exposure Pregnancy complication Prenatal Injuries MESH:D049188 Damages to the EMBRYO, MAMMALIAN or the FETUS before BIRTH. Damages can be caused by any factors including biological, chemical, or physical. MESH:D011248 C12.050.703.824 C12.050.703 Injuries, Prenatal|Injury, Prenatal|Prenatal Injury Pregnancy complication Prepapillary Vascular Loops MESH:C563287 MESH:D005124|MESH:D054079 C11.250/C563287|C14.240.850/C563287|C16.131.240.850/C563287|C16.131.384/C563287 C11.250|C14.240.850|C16.131.240.850|C16.131.384 Preretinal Vascular Loops Cardiovascular disease|Congenital abnormality|Eye disease Presbycusis MESH:D011304 Gradual bilateral hearing loss associated with aging that is due to progressive degeneration of cochlear structures and central auditory pathways. Hearing loss usually begins with the high frequencies then progresses to sounds of middle and low frequencies. MESH:D006319 C09.218.458.341.887.772|C10.597.751.418.341.887.772|C23.888.592.763.393.341.887.772 C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Presbycuses Ear-nose-throat disease|Nervous system disease|Signs and symptoms Presbycusis 2 MESH:C567834 OMIM:612976 MESH:D011304 C09.218.458.341.887.772/C567834|C10.597.751.418.341.887.772/C567834|C23.888.592.763.393.341.887.772/C567834 C09.218.458.341.887.772|C10.597.751.418.341.887.772|C23.888.592.763.393.341.887.772 Age-Related Hearing Impairment 2|ARHI2|PRESBYCUSIS 2 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Presbyopia MESH:D011305 DO:DOID:11638 The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation. MESH:D012030 C11.744.786 C11.744 Presbyopias Eye disease Presenile And Senile Dementia MESH:C563254 MESH:D000544 C10.228.140.380.100/C563254|C10.574.945.249/C563254|F03.615.400.100/C563254 C10.228.140.380.100|C10.574.945.249|F03.615.400.100 Mental disorder|Nervous system disease Presenile dementia, Kraepelin type MESH:C535273 MESH:D002389|MESH:D003704 C10.228.140.380/C535273|C10.597.606.115/C535273|C23.888.592.604.115/C535273|F03.615.400/C535273 C10.228.140.380|C10.597.606.115|C23.888.592.604.115|F03.615.400 Catatonia of Kraepelin|Kraepelin disease Mental disorder|Nervous system disease|Signs and symptoms Presentey Anomaly MESH:C564893 OMIM:261500 MESH:D007960 C15.378.553/C564893 C15.378.553 EOSINOPHIL PEROXIDASE DEFICIENCY|Eosinophil Peroxidase Deficiency, Partial|EPXD|Peroxidase and Phospholipid Deficiency in Eosinophils|PRESENTEY ANOMALY Blood disease Pressure Ulcer MESH:D003668 DO:DOID:8717 An ulceration caused by prolonged pressure on the SKIN and TISSUES when one stays in one position for a long period of time, such as lying in bed. The bony areas of the body are the most frequently affected sites which become ischemic (ISCHEMIA) under sustained and constant pressure. MESH:D012883 C17.800.893.665 C17.800.893 Bedsore|Bed Sore|Bedsores|Bed Sores|Decubitus Ulcer|Decubitus Ulcers|Pressure Sore|Pressure Sores|Pressure Ulcers|Sore, Bed|Sore, Pressure|Sores, Bed|Sores, Pressure|Ulcer, Decubitus|Ulcer, Pressure|Ulcers, Decubitus|Ulcers, Pressure Skin disease Preterm Premature Rupture of the Membranes MESH:C563032 DO:DOID:0111144|OMIM:610504 MESH:D005322 C12.050.703.420.339/C563032 C12.050.703.420.339 PPROM Pregnancy complication Priapism MESH:D011317 DO:DOID:9286 A prolonged painful erection that may lasts hours and is not associated with sexual activity. It is seen in patients with SICKLE CELL ANEMIA, advanced malignancy, spinal trauma; and certain drug treatments. MESH:D010409 C12.100.500.494.786|C12.200.294.494.786 C12.100.500.494|C12.200.294.494 Priapisms Urogenital disease (male) Priapism, familial idiopathic MESH:C531791 OMIM:176620 MESH:D011317 C12.100.500.494.786/C531791|C12.200.294.494.786/C531791 C12.100.500.494.786|C12.200.294.494.786 Familial idiopathic priapism Urogenital disease (male) Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia MESH:C580388 OMIM:612437 MESH:D020191 C10.228.140.490.375.130.650/C580388|C10.228.140.490.493.063.650/C580388 C10.228.140.490.375.130.650|C10.228.140.490.493.063.650 Epilepsy, Progressive Myoclonic, 1b|Epm1b|Pme with Ataxia|Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia|Progressive Myoclonic Epilepsy 1b|Progressive Myoclonus Epilepsy with Ataxia Nervous system disease Prieto X-linked mental retardation syndrome MESH:C535274 OMIM:309610 MESH:D019465|MESH:D038901 C05.660.207/C535274|C10.597.606.360.455/C535274|C16.131.621.207/C535274|C16.320.322.500/C535274|C16.320.400.525/C535274 C05.660.207|C10.597.606.360.455|C16.131.621.207|C16.320.322.500|C16.320.400.525 Mental retardation, X-linked, syndromic 2|Mental retardation, X-linked with dysmorphism and cerebral atrophy|Mental Retardation, X-Linked, With Dysmorphism And Cerebral Atrophy|MRXS2|Prieto syndrome|PRIETO X-LINKED MENTAL RETARDATION SYNDROME|PRS|X-linked dysmorphic syndrome with mental retardation Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Primary angiitis of the central nervous system MESH:C535276 MESH:D020293 C10.114.875/C535276|C10.228.140.300.850/C535276|C14.907.253.946/C535276|C14.907.940.907/C535276|C20.111.258.962/C535276 C10.114.875|C10.228.140.300.850|C14.907.253.946|C14.907.940.907|C20.111.258.962 PACNS Cardiovascular disease|Immune system disease|Nervous system disease Primary ciliary dyskinesia, 2 MESH:C535277 OMIM:606763 MESH:D007619 C08.127.384.500/C535277|C08.200.531/C535277|C08.695.501/C535277|C09.150.531/C535277|C14.240.400.280.500/C535277|C14.280.400.280.500/C535277|C16.131.077.245.500.531/C535277|C16.131.240.400.280.500/C535277|C16.131.740.501/C535277|C16.131.810.250.500/C535277|C16.320.184.500.531/C535277|C16.320.480/C535277 C08.127.384.500|C08.200.531|C08.695.501|C09.150.531|C14.240.400.280.500|C14.280.400.280.500|C16.131.077.245.500.531|C16.131.240.400.280.500|C16.131.740.501|C16.131.810.250.500|C16.320.184.500.531|C16.320.480 CILD2|Ciliary Dyskinesia, Primary, 2|CILIARY DYSKINESIA, PRIMARY, 2, WITH OR WITHOUT SITUS INVERSUS Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Primary ciliary dyskinesia, 3 MESH:C535278 OMIM:608644 MESH:D007619 C08.127.384.500/C535278|C08.200.531/C535278|C08.695.501/C535278|C09.150.531/C535278|C14.240.400.280.500/C535278|C14.280.400.280.500/C535278|C16.131.077.245.500.531/C535278|C16.131.240.400.280.500/C535278|C16.131.740.501/C535278|C16.131.810.250.500/C535278|C16.320.184.500.531/C535278|C16.320.480/C535278 C08.127.384.500|C08.200.531|C08.695.501|C09.150.531|C14.240.400.280.500|C14.280.400.280.500|C16.131.077.245.500.531|C16.131.240.400.280.500|C16.131.740.501|C16.131.810.250.500|C16.320.184.500.531|C16.320.480 CILD3|Ciliary Dyskinesia, Primary, 3|Ciliary Dyskinesia, Primary, 3, with or without Situs Inversus Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Primary ciliary dyskinesia, 4 MESH:C535279 OMIM:608646 MESH:D007619 C08.127.384.500/C535279|C08.200.531/C535279|C08.695.501/C535279|C09.150.531/C535279|C14.240.400.280.500/C535279|C14.280.400.280.500/C535279|C16.131.077.245.500.531/C535279|C16.131.240.400.280.500/C535279|C16.131.740.501/C535279|C16.131.810.250.500/C535279|C16.320.184.500.531/C535279|C16.320.480/C535279 C08.127.384.500|C08.200.531|C08.695.501|C09.150.531|C14.240.400.280.500|C14.280.400.280.500|C16.131.077.245.500.531|C16.131.240.400.280.500|C16.131.740.501|C16.131.810.250.500|C16.320.184.500.531|C16.320.480 CILD4|Ciliary Dyskinesia, Primary, 4|Ciliary Dyskinesia, Primary, 4, with or without Situs Inversus Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Respiratory tract disease Primary cortisol resistance MESH:C535280 MESH:D047748 C10.228.140.617.738.250.725/C535280|C19.700.355.800/C535280 C10.228.140.617.738.250.725|C19.700.355.800 Endocrine system disease|Nervous system disease Primary Dysautonomias MESH:D054969 Disorders of the AUTONOMIC NERVOUS SYSTEM occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the BLOOD PRESSURE and HEART RATE. MESH:D001342 C10.177.575 C10.177 Dysautonomia|Dysautonomia, Primary|Dysautonomias|Dysautonomias, Primary|Primary Dysautonomia Nervous system disease Primary Graft Dysfunction MESH:D055031 A form of ischemia-reperfusion injury occurring in the early period following transplantation. Significant pathophysiological changes in MITOCHONDRIA are the main cause of the dysfunction. It is most often seen in the transplanted lung, liver, or kidney and can lead to GRAFT REJECTION. MESH:D015427 C14.907.725.675|C23.550.767.877.750 C14.907.725|C23.550.767.877 Dysfunction, Primary Graft|Graft Dysfunction, Primary Cardiovascular disease|Pathology (process) Primary granulocytic sarcoma MESH:C536413 MESH:D023981 C04.557.337.539.775/C536413|C04.557.450.795.853/C536413 C04.557.337.539.775|C04.557.450.795.853 Cancer Primary hyperoxaluria type 1 MESH:C536414 DO:DOID:0111670|OMIM:259900 MESH:D006960 C12.050.351.968.419.313.500/C536414|C12.200.777.419.313.500/C536414|C12.950.419.313.500/C536414|C16.320.565.202.460/C536414|C18.452.648.202.460/C536414 C12.050.351.968.419.313.500|C12.200.777.419.313.500|C12.950.419.313.500|C16.320.565.202.460|C18.452.648.202.460 Alanine-glyoxylate aminotransferase deficiency|Glycolic aciduria|Hepatic AGT Deficiency|HP1|Hyperoxaluria, Primary, Type I|Oxalosis 1|Oxalosis I|Peroxisomal alanine glyoxylate aminotransferase deficiency|Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency|Serine:Pyruvate Aminotransferase Deficiency Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Primary hyperoxaluria type 2 MESH:C536415 DO:DOID:0111671|OMIM:260000 MESH:D006960 C12.050.351.968.419.313.500/C536415|C12.200.777.419.313.500/C536415|C12.950.419.313.500/C536415|C16.320.565.202.460/C536415|C18.452.648.202.460/C536415 C12.050.351.968.419.313.500|C12.200.777.419.313.500|C12.950.419.313.500|C16.320.565.202.460|C18.452.648.202.460 D-glycerate dehydrogenase deficiency|Glyceric aciduria|Glyoxylate reductase-hydroxypyruvate reductase deficiency|GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY|HP2|Hyperoxaluria, Primary, Type II|Oxalosis 2|Oxalosis II Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Primary Immunodeficiency Diseases MESH:D000081207 Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased susceptibility to infectious diseases. They are often associated with AUTOIMMUNE DISEASE manifestations. MESH:D007153|MESH:D030342 C16.320.798|C20.673.795 C16.320|C20.673 Antibody Deficiency, Primary|Congenital Immunodeficiency Disease|Congenital Immunodeficiency Diseases|Congenital Immunodeficiency Disorder|Congenital Immunodeficiency Disorders|Congenital Immunodeficiency Syndrome|Congenital Immunodeficiency Syndromes|Deficiency, Primary Immune|Immune Deficiency, Primary|Immunodeficiency Disease, Congenital|Immunodeficiency Disease, Inherited|Immunodeficiency Disease, Primary|Immunodeficiency Diseases, Congenital|Immunodeficiency Diseases, Inherited|Immunodeficiency Diseases, Primary|Immunodeficiency Disorder, Congenital|Immunodeficiency Disorder, Inherited|Immunodeficiency Disorder, Primary|Immunodeficiency Disorders, Congenital|Immunodeficiency Disorders, Inherited|Immunodeficiency Syndrome, Congenital|Immunodeficiency Syndrome, Inherited|Immunodeficiency Syndrome, Primary|Immunodeficiency Syndromes, Congenital|Immunodeficiency Syndromes, Inherited|Immunodeficiency Syndromes, Primary|Inherited Immunodeficiency Disease|Inherited Immunodeficiency Diseases|Inherited Immunodeficiency Disorder|Inherited Immunodeficiency Disorders|Inherited Immunodeficiency Syndrome|Inherited Immunodeficiency Syndromes|Primary Antibody Deficiencies|Primary Antibody Deficiency|Primary Antibody Deficiency Disorder|Primary Antibody Deficiency Disorders|Primary Antibody Deficiency Syndrome|Primary Antibody Deficiency Syndromes|Primary Immune Deficiencies|Primary Immune Deficiency|Primary Immune Deficiency Disease|Primary Immune Deficiency Diseases|Primary Immune Deficiency Disorder|Primary Immune Deficiency Disorders|Primary Immune Deficiency Syndrome|Primary Immune Deficiency Syndromes|Primary Immunodeficiency Disease|Primary Immunodeficiency Disorder|Primary Immunodeficiency Disorders|Primary Immunodeficiency Syndrome|Primary Immunodeficiency Syndromes Genetic disease (inborn)|Immune system disease Primary Lateral Sclerosis, Adult, 1 MESH:C566900 OMIM:611637 MESH:D016472 C10.574.562/C566900|C10.668.467/C566900 C10.574.562|C10.668.467 PLSA|PLSA1|PLS, Adult Nervous system disease Primary lateral sclerosis juvenile MESH:C536416 OMIM:606353 MESH:D016472 C10.574.562/C536416|C10.668.467/C536416 C10.574.562|C10.668.467 Juvenile Primary Lateral Sclerosis|PLSJ|PLS, JUVENILE|Primary Lateral Sclerosis, Juvenile Nervous system disease Primary malignant melanoma of the cervix MESH:C536417 MESH:D002583|MESH:D008545 C04.557.465.625.650.510/C536417|C04.557.580.625.650.510/C536417|C04.557.665.510/C536417|C04.588.945.418.948.850/C536417|C12.050.351.500.852.593.131/C536417|C12.050.351.500.852.762.850/C536417|C12.050.351.937.418.875.850/C536417|C12.100.250.852.593.131/C536417|C12.100.250.852.762.850/C536417|C12.900.418.875.850/C536417 C04.557.465.625.650.510|C04.557.580.625.650.510|C04.557.665.510|C04.588.945.418.948.850|C12.050.351.500.852.593.131|C12.050.351.500.852.762.850|C12.050.351.937.418.875.850|C12.100.250.852.593.131|C12.100.250.852.762.850|C12.900.418.875.850 Primary malignant melanoma of the cervix uteri|Primary malignant melanoma of the uterine cervix|Radiation induced malignant melanoma of the cervix Cancer|Urogenital disease (female) Primary Myelofibrosis MESH:D055728 DO:DOID:4971|OMIM:254450 A de novo myeloproliferation arising from an abnormal stem cell. It is characterized by the replacement of bone marrow by fibrous tissue, a process that is mediated by CYTOKINES arising from the abnormal clone. MESH:D009196 C15.378.190.636.765 C15.378.190.636 Agnogenic Myeloid Metaplasia|Agnogenic Myeloid Metaplasias|Bone Marrow Fibroses|Bone Marrow Fibrosis|Chronic Idiopathic Myelofibrosis|Fibroses, Bone Marrow|Fibrosis, Bone Marrow|Idiopathic Myelofibrosis|Metaplasia, Agnogenic Myeloid|Metaplasia, Myeloid|Metaplasias, Agnogenic Myeloid|Metaplasias, Myeloid|MMM, INCLUDED|Myelofibroses|Myelofibroses, Primary|Myelofibrosis|Myelofibrosis, Primary|Myelofibrosis With Myeloid Metaplasia|MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED|Myeloid Metaplasia|Myeloid Metaplasia, Agnogenic|Myeloid Metaplasias|Myeloid Metaplasias, Agnogenic|Myeloscleroses|Myelosclerosis|Myeloses, Nonleukemic|Myelosis, Nonleukemic|Nonleukemic Myeloses|Nonleukemic Myelosis|Primary Myelofibroses Blood disease Primary orthostatic tremor MESH:C536418 MESH:D004244|MESH:D014202 C10.597.350.850/C536418|C23.888.592.350.850/C536418|C23.888.592.763.237/C536418 C10.597.350.850|C23.888.592.350.850|C23.888.592.763.237 Orthostatic tremor, primary|Shaky leg syndrome Nervous system disease|Signs and symptoms Primary Ovarian Insufficiency MESH:D016649 DO:DOID:5426|OMIM:311360 Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. The most commonly known genetic cause is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked FMR1 gene. MESH:D010049 C12.050.351.500.056.630.750|C12.100.250.056.630.750|C19.391.630.750 C12.050.351.500.056.630|C12.100.250.056.630|C19.391.630 FMR1 Related Primary Ovarian Insufficiency|FMR1-Related Primary Ovarian Insufficiency|Fragile X Associated Primary Ovarian Insufficiency|Fragile X-Associated Primary Ovarian Insufficiency|Fragile X Premature Ovarian Failure|Gonadotropin Resistant Ovary Syndrome|Gonadotropin-Resistant Ovary Syndrome|Hypergonadotropic Ovarian Failure, X Linked|Hypergonadotropic Ovarian Failure, X-Linked|Ovarian Failure, Premature|Ovarian Insufficiency, Primary|POF|POF1|POFX|Premature Ovarian Failure|Premature Ovarian Failure 1|Premature Ovarian Failure, X Linked|Premature Ovarian Failure, X-Linked|Primary Ovarian Insufficiency, Fragile X Associated|Primary Ovarian Insufficiency, Fragile X-Associated|Resistant Ovary Syndrome|X Linked Hypergonadotropic Ovarian Failure|X-Linked Hypergonadotropic Ovarian Failure Endocrine system disease|Urogenital disease (female) Primary Progressive Nonfluent Aphasia MESH:D057178 A form of frontotemporal lobar degeneration and a progressive form of dementia characterized by motor speech impairment and AGRAMMATISM, with relative sparing of single word comprehension and semantic memory. MESH:D018888|MESH:D057174 C10.228.140.380.132.600|C10.228.140.380.266.600|C10.574.950.300.600|C10.597.606.150.500.800.100.155.600|C18.452.845.800.300.600|C23.888.592.604.150.500.800.100.155.600|F03.615.400.125.600|F03.615.400.380.600 C10.228.140.380.132|C10.228.140.380.266|C10.574.950.300|C10.597.606.150.500.800.100.155|C18.452.845.800.300|C23.888.592.604.150.500.800.100.155|F03.615.400.125|F03.615.400.380 Aphasia, Progressive Nonfluent|Aphasias, Progressive Nonfluent|Nonfluent Aphasia, Progressive|Nonfluent Aphasias, Progressive|Non fluent Primary Progressive Aphasia|Non-fluent Primary Progressive Aphasia|PPA Syndrome|PPA Syndromes|Progressive Nonfluent Aphasia|Progressive Nonfluent Aphasias|Syndrome, PPA|Syndromes, PPA Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Primary Release Disorder Of Platelets MESH:C566759 MESH:D001791 C15.378.140/C566759 C15.378.140 Blood disease Primary visual agnosia MESH:C531604 DO:DOID:0060155 MESH:D000377 C10.597.606.762.100/C531604|C23.888.592.604.764.100/C531604 C10.597.606.762.100|C23.888.592.604.764.100 Monomodal visual amnesia|Visual amnesia Nervous system disease|Signs and symptoms Primate Diseases MESH:D018419 Diseases of animals within the order PRIMATES. This term includes diseases of Haplorhini and Strepsirhini. MESH:D000820 C22.735 C22 Disease, Primate|Diseases, Primate|Primate Disease Animal disease Primrose syndrome MESH:C536420 OMIM:259050 MESH:D000015|MESH:D002114|MESH:D004427|MESH:D008607|MESH:D009133 C09.218/C536420|C10.597.606.360/C536420|C10.597.613.612/C536420|C16.131.077/C536420|C18.452.174.130/C536420|C23.300.070.500/C536420|C23.888.592.604.646/C536420|C23.888.592.608.612/C536420|F03.625.539/C536420 C09.218|C10.597.606.360|C10.597.613.612|C16.131.077|C18.452.174.130|C23.300.070.500|C23.888.592.604.646|C23.888.592.608.612|F03.625.539 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES|PRIMS Congenital abnormality|Ear-nose-throat disease|Mental disorder|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Prinzmetal's variant angina MESH:C536421 MESH:D000788 C14.280.647.187.150.150/C536421|C14.907.585.187.150.500/C536421|C23.888.592.612.233.500.150.150/C536421 C14.280.647.187.150.150|C14.907.585.187.150.500|C23.888.592.612.233.500.150.150 Cardiovascular disease|Signs and symptoms Prion Diseases MESH:D017096 DO:DOID:649 A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83) MESH:D002494|MESH:D019636 C01.207.800|C10.228.228.800|C10.574.843 C01.207|C10.228.228|C10.574 Dementias, Transmissible|Dementia, Transmissible|Disorder, Prion-Induced|Disorders, Prion-Induced|Encephalopathies, Spongiform, Transmissible|Encephalopathies, Transmissible Spongiform|Encephalopathy, Transmissible Spongiform|Human Transmissible Spongiform Encephalopathies, Inherited|Inherited Human Transmissible Spongiform Encephalopathies|Prion-Associated Disorders|Prion Disease|Prion Induced Disorder|Prion-Induced Disorder|Prion-Induced Disorders|Prion Protein Disease|Prion Protein Diseases|Spongiform Encephalopathies, Transmissible|Spongiform Encephalopathy, Transmissible|Transmissible Dementia|Transmissible Dementias|Transmissible Spongiform Encephalopathies|Transmissible Spongiform Encephalopathy Nervous system disease Proctitis MESH:D011349 DO:DOID:3127 INFLAMMATION of the MUCOUS MEMBRANE of the RECTUM, the distal end of the large intestine (INTESTINE, LARGE). MESH:D005759|MESH:D012002 C06.405.205.865|C06.405.469.860.622 C06.405.205|C06.405.469.860 Proctitides Digestive system disease Proctocolitis MESH:D011350 Inflammation of the RECTUM and the distal portion of the COLON. MESH:D003092|MESH:D011349|MESH:D012810 C06.405.205.265.767|C06.405.205.865.790|C06.405.469.158.188.767|C06.405.469.158.850.790|C06.405.469.860.622.790 C06.405.205.265|C06.405.205.865|C06.405.469.158.188|C06.405.469.158.850|C06.405.469.860.622 Hemorrhagic Proctocolitis|Hemorrhagic Rectocolitis|Proctocolitides, Ulcerative|Proctocolitis, Hemorrhagic|Proctocolitis, Ulcerative|Proctosigmoiditis|Rectocolitides, Ulcerative|Rectocolitis|Rectocolitis, Hemorrhagic|Rectocolitis, Ulcerative|Rectosigmoiditis|Ulcerative Proctocolitides|Ulcerative Proctocolitis|Ulcerative Rectocolitides|Ulcerative Rectocolitis Digestive system disease Prodromal Symptoms MESH:D062706 Clinical or physiological indicators that precede the onset of disease. MESH:D012816 C23.888.672 C23.888 Characteristic, Prodromal|Characteristics, Prodromal|Period, Prodromal|Periods, Prodromal|Prodromal Characteristic|Prodromal Characteristics|Prodromal Period|Prodromal Periods|Prodromal Sign|Prodromal Signs|Prodromal Stage|Prodromal Stages|Prodromal State|Prodromal States|Prodromal Symptom|Prodromal Syndrome|Prodromal Syndromes|Sign, Prodromal|Signs, Prodromal|Stage, Prodromal|Stages, Prodromal|State, Prodromal|States, Prodromal|Symptom, Prodromal|Symptoms, Prodromal|Syndrome, Prodromal|Syndromes, Prodromal Signs and symptoms Progeria MESH:D011371 DO:DOID:3911|OMIM:176670 An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature graying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA. MESH:D000083083|MESH:D008661 C16.320.488.875|C16.320.565.753|C18.452.648.753 C16.320.488|C16.320.565|C18.452.648 HGPS|Hutchinson Gilford Progeria Syndrome|Hutchinson-Gilford Progeria Syndrome|Hutchinson-Gilford Progeria Syndromes|Hutchinson Gilford Syndrome|Hutchinson-Gilford Syndrome|PROGERIA PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED|Progeria Syndrome, Hutchinson-Gilford|Progeria Syndromes, Hutchinson-Gilford Genetic disease (inborn)|Metabolic disease Progeria short stature pigmented nevi MESH:C536422 MESH:D006130|MESH:D009508|MESH:D011371 C04.557.665.560.615/C536422|C16.320.488.875/C536422|C16.320.565.753/C536422|C18.452.648.753/C536422|C23.550.393/C536422 C04.557.665.560.615|C16.320.488.875|C16.320.565.753|C18.452.648.753|C23.550.393 Mulvihill-Smith Syndrome|Progeroid Short Stature with Pigmented Nevi Cancer|Genetic disease (inborn)|Metabolic disease|Pathology (process) Progeria Syndrome, Childhood-Onset MESH:C567661 MESH:D011371 C16.320.488.875/C567661|C16.320.565.753/C567661|C18.452.648.753/C567661 C16.320.488.875|C16.320.565.753|C18.452.648.753 Genetic disease (inborn)|Metabolic disease Progeroid Facial Appearance with Hand Anomalies MESH:C566563 MESH:D006228|MESH:D011371|MESH:D019066 C05.390.408/C566563|C05.660.585.988.425/C566563|C16.131.621.585.988.500/C566563|C16.320.488.875/C566563|C16.320.565.753/C566563|C18.452.648.753/C566563|C23.550.291.812/C566563 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500|C16.320.488.875|C16.320.565.753|C18.452.648.753|C23.550.291.812 Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Pathology (process) Progeroid Syndrome, Congenital, Petty Type MESH:C567360 MESH:D006130|MESH:D011371 C16.320.488.875/C567360|C16.320.565.753/C567360|C18.452.648.753/C567360|C23.550.393/C567360 C16.320.488.875|C16.320.565.753|C18.452.648.753|C23.550.393 Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies|GCM syndrome|Gorlin Chaudhry Moss syndrome|Gorlin-Chaudhry-Moss syndrome|Petty Laxova Wiedemann syndrome Genetic disease (inborn)|Metabolic disease|Pathology (process) Progeroid syndrome, neonatal MESH:C536423 MESH:D005317|MESH:D011371 C12.050.703.277.370/C536423|C16.300.390/C536423|C16.320.488.875/C536423|C16.320.565.753/C536423|C18.452.648.753/C536423|C23.550.393.450/C536423 C12.050.703.277.370|C16.300.390|C16.320.488.875|C16.320.565.753|C18.452.648.753|C23.550.393.450 Neonatal progeroid syndrome|Wiedemann-Rautenstrauch syndrome Fetal disease|Genetic disease (inborn)|Metabolic disease|Pathology (process)|Pregnancy complication Progesterone Resistance MESH:C564871 OMIM:264080 MESH:D014591 C12.050.351.500.852/C564871|C12.100.250.852/C564871 C12.050.351.500.852|C12.100.250.852 Pseudocorpus Luteum Insufficiency Urogenital disease (female) Prognathism MESH:D011378 A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed) MESH:D007569|MESH:D008336 C05.500.460.655|C05.500.607.655|C05.660.207.540.460.655|C07.320.440.655|C07.320.610.655|C07.650.500.460.655|C16.131.621.207.540.460.655|C16.131.850.500.460.655 C05.500.460|C05.500.607|C05.660.207.540.460|C07.320.440|C07.320.610|C07.650.500.460|C16.131.621.207.540.460|C16.131.850.500.460 Prognathisms Congenital abnormality|Mouth disease|Musculoskeletal disease Progressive Encephalomyelitis with Rigidity MESH:C566113 MESH:D004679|MESH:D009127 C01.207.291/C566113|C05.651.504/C566113|C10.228.228.291/C566113|C10.586.500/C566113|C10.597.613.550.500/C566113|C23.888.592.608.550.500/C566113 C01.207.291|C05.651.504|C10.228.228.291|C10.586.500|C10.597.613.550.500|C23.888.592.608.550.500 Musculoskeletal disease|Nervous system disease|Signs and symptoms Progressive External Ophthalmoplegia With Hypogonadism MESH:C563576 MESH:D007006|MESH:D009886|MESH:D028361 C10.292.562.750/C563576|C10.597.622.447/C563576|C11.590.472/C563576|C18.452.660/C563576|C19.391.482/C563576|C23.888.592.636.447/C563576 C10.292.562.750|C10.597.622.447|C11.590.472|C18.452.660|C19.391.482|C23.888.592.636.447 Endocrine system disease|Eye disease|Metabolic disease|Nervous system disease|Signs and symptoms Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 MESH:C563575 OMIM:157640 MESH:D009886|MESH:D028361 C10.292.562.750/C563575|C10.597.622.447/C563575|C11.590.472/C563575|C18.452.660/C563575|C23.888.592.636.447/C563575 C10.292.562.750|C10.597.622.447|C11.590.472|C18.452.660|C23.888.592.636.447 PEOA1|Progressive External Ophthalmoplegia, Autosomal Dominant, 1|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 Eye disease|Metabolic disease|Nervous system disease|Signs and symptoms Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 MESH:C563750 OMIM:609283 MESH:D017246 C05.651.460.700/C563750|C10.292.562.750.250/C563750|C10.597.622.447.511/C563750|C10.668.491.500.700/C563750|C11.590.472.250/C563750|C18.452.660.560.700/C563750|C23.550.291.500.688/C563750|C23.888.592.636.447.511/C563750 C05.651.460.700|C10.292.562.750.250|C10.597.622.447.511|C10.668.491.500.700|C11.590.472.250|C18.452.660.560.700|C23.550.291.500.688|C23.888.592.636.447.511 PEOA2|Progressive External Ophthalmoplegia, Autosomal Dominant, 2|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 MESH:C563747 OMIM:609286 MESH:D017246 C05.651.460.700/C563747|C10.292.562.750.250/C563747|C10.597.622.447.511/C563747|C10.668.491.500.700/C563747|C11.590.472.250/C563747|C18.452.660.560.700/C563747|C23.550.291.500.688/C563747|C23.888.592.636.447.511/C563747 C05.651.460.700|C10.292.562.750.250|C10.597.622.447.511|C10.668.491.500.700|C11.590.472.250|C18.452.660.560.700|C23.550.291.500.688|C23.888.592.636.447.511 PEOA3|Progressive External Ophthalmoplegia, Autosomal Dominant, 3|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 MESH:C566437 OMIM:610131 MESH:D017246 C05.651.460.700/C566437|C10.292.562.750.250/C566437|C10.597.622.447.511/C566437|C10.668.491.500.700/C566437|C11.590.472.250/C566437|C18.452.660.560.700/C566437|C23.550.291.500.688/C566437|C23.888.592.636.447.511/C566437 C05.651.460.700|C10.292.562.750.250|C10.597.622.447.511|C10.668.491.500.700|C11.590.472.250|C18.452.660.560.700|C23.550.291.500.688|C23.888.592.636.447.511 PEOA4|Progressive External Ophthalmoplegia, Autosomal Dominant, 4|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 4|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 MESH:C567768 OMIM:613077 MESH:D017246|MESH:D028361 C05.651.460.700/C567768|C10.292.562.750.250/C567768|C10.597.622.447.511/C567768|C10.668.491.500.700/C567768|C11.590.472.250/C567768|C18.452.660.560.700/C567768|C18.452.660/C567768|C23.550.291.500.688/C567768|C23.888.592.636.447.511/C567768 C05.651.460.700|C10.292.562.750.250|C10.597.622.447.511|C10.668.491.500.700|C11.590.472.250|C18.452.660|C18.452.660.560.700|C23.550.291.500.688|C23.888.592.636.447.511 Peoa5|Progressive External Ophthalmoplegia, Autosomal Dominant, 5|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 OMIM:615156 DO:DOID:0111519 MESH:D009886 C10.292.562.750/615156|C10.597.622.447/615156|C11.590.472/615156|C23.888.592.636.447/615156 C10.292.562.750|C10.597.622.447|C11.590.472|C23.888.592.636.447 PEOA6|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 6 Eye disease|Nervous system disease|Signs and symptoms Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive MESH:C564926 OMIM:258450 MESH:D009886 C10.292.562.750/C564926|C10.597.622.447/C564926|C11.590.472/C564926|C23.888.592.636.447/C564926 C10.292.562.750|C10.597.622.447|C11.590.472|C23.888.592.636.447 PEOB1|Progressive External Ophthalmoplegia, Autosomal Recessive|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 Eye disease|Nervous system disease|Signs and symptoms PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 OMIM:616479 DO:DOID:0111515 MESH:D009886 C10.292.562.750/616479|C10.597.622.447/616479|C11.590.472/616479|C23.888.592.636.447/616479 C10.292.562.750|C10.597.622.447|C11.590.472|C23.888.592.636.447 PEOB2|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 2 Eye disease|Nervous system disease|Signs and symptoms PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 OMIM:617069 DO:DOID:0111523 MESH:D009886 C10.292.562.750/617069|C10.597.622.447/617069|C11.590.472/617069|C23.888.592.636.447/617069 C10.292.562.750|C10.597.622.447|C11.590.472|C23.888.592.636.447 PEOB3|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 Eye disease|Nervous system disease|Signs and symptoms PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 OMIM:617070 DO:DOID:0111516 MESH:D009886 C10.292.562.750/617070|C10.597.622.447/617070|C11.590.472/617070|C23.888.592.636.447/617070 C10.292.562.750|C10.597.622.447|C11.590.472|C23.888.592.636.447 PEOB4|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 4 Eye disease|Nervous system disease|Signs and symptoms PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA OMIM:113900 DO:DOID:0111074 MESH:C535758 C14.280.067.558/C535758/113900|C14.280.123.500/C535758/113900|C23.550.073.425/C535758/113900 C14.280.067.558/C535758|C14.280.123.500/C535758|C23.550.073.425/C535758 BUNDLE BRANCH BLOCK|CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED|CARDIAC CONDUCTION DEFECT, PROGRESSIVE|HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I|HEREDITARY BUNDLE BRANCH SYSTEM DEFECT;HBBD HEART BLOCK, NONPROGRESSIVE, INCLUDED|LENEGRE-LEV DISEASE|PCCD|PFHB1A|PFHBI|PFHBIA Cardiovascular disease|Pathology (process) Progressive Familial Heart Block, Type Ib MESH:C567037 DO:DOID:0111076|OMIM:604559 MESH:D006327 C14.280.067.558/C567037|C14.280.123.500/C567037|C23.550.073.425/C567037 C14.280.067.558|C14.280.123.500|C23.550.073.425 PFHB1B|PFHBIB Cardiovascular disease|Pathology (process) Progressive Familial Heart Block, Type II MESH:C564202 DO:DOID:0111075 MESH:D006327 C14.280.067.558/C564202|C14.280.123.500/C564202|C23.550.073.425/C564202 C14.280.067.558|C14.280.123.500|C23.550.073.425 PFHB2|PFHBII Cardiovascular disease|Pathology (process) Progressive hearing loss stapes fixation MESH:C536424 OMIM:304400 MESH:D006314|MESH:D006319|MESH:D040181 C09.218.458.341.562/C536424|C09.218.458.341.887/C536424|C10.597.751.418.341.562/C536424|C10.597.751.418.341.887/C536424|C16.320.322/C536424|C23.888.592.763.393.341.562/C536424|C23.888.592.763.393.341.887/C536424 C09.218.458.341.562|C09.218.458.341.887|C10.597.751.418.341.562|C10.597.751.418.341.887|C16.320.322|C23.888.592.763.393.341.562|C23.888.592.763.393.341.887 Deafness 3, conductive, with stapes fixation|Deafness, Conductive, with Stapes Fixation|Deafness, mixed, with perilymphatic gusher|Deafness, X-Linked 2|DFN3|DFNX2|Nance deafness|Perilymphatic gusher-deafness syndrome|Sensorineural deafness, profound, with or without a conductive component|Sensorineural Deafness, Profound, with or without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Progressive supranuclear palsy atypical MESH:C537240 OMIM:260540 MESH:D010300|MESH:D013494 C10.228.140.079.862.500/C537240|C10.228.140.079.882/C537240|C10.228.662.600.400/C537240|C10.228.662.700/C537240|C10.292.562.750.500/C537240|C10.574.928.750/C537240|C10.574.945.500/C537240|C10.597.622.447.690/C537240|C11.590.472.500/C537240|C23.888.592.636.447.690/C537240 C10.228.140.079.862.500|C10.228.140.079.882|C10.228.662.600.400|C10.228.662.700|C10.292.562.750.500|C10.574.928.750|C10.574.945.500|C10.597.622.447.690|C11.590.472.500|C23.888.592.636.447.690 Atypical PSP|Parkinson-Dementia Syndrome|Steele-Richardson-Olszewski Syndrome, Atypical|STEELE-RICHARDSON-OLSZEWSKI SYNDROME, ATYPICAL, INCLUDED|Supranuclear Palsy, Progressive, 1, Atypical|SUPRANUCLEAR PALSY, PROGRESSIVE, 1, ATYPICAL, INCLUDED|Supranuclear Palsy, Progressive Atypical Eye disease|Nervous system disease|Signs and symptoms Progressive Transformation of Germinal Centers MESH:C548085 MESH:D002471|MESH:D008223 C04.557.386/C548085|C04.697.098.500/C548085|C15.604.515.569/C548085|C20.683.515.761/C548085|C23.550.727.098.500/C548085 C04.557.386|C04.697.098.500|C15.604.515.569|C20.683.515.761|C23.550.727.098.500 Cancer|Immune system disease|Lymphatic disease|Pathology (process) Proguanil, Poor Metabolism of MESH:C563704 MESH:D008661 C16.320.565/C563704|C18.452.648/C563704 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Prolactin Deficiency, Isolated MESH:C562708 MESH:D007775|MESH:D030342 C12.050.703.844.506/C562708|C16.320/C562708|C17.800.090.937/C562708 C12.050.703.844.506|C16.320|C17.800.090.937 Genetic disease (inborn)|Pregnancy complication|Skin disease Prolactin Deficiency with Obesity and Enlarged Testes MESH:C564870 MESH:D007018|MESH:D009765 C10.228.140.617.738.300/C564870|C18.654.726.750.500/C564870|C19.700.482/C564870|C23.888.144.699.500/C564870 C10.228.140.617.738.300|C18.654.726.750.500|C19.700.482|C23.888.144.699.500 Endocrine system disease|Nervous system disease|Nutrition disorder|Signs and symptoms Prolactinoma MESH:D015175 DO:DOID:5394 A pituitary adenoma which secretes PROLACTIN, leading to HYPERPROLACTINEMIA. Clinical manifestations include AMENORRHEA; GALACTORRHEA; IMPOTENCE; HEADACHE; visual disturbances; and CEREBROSPINAL FLUID RHINORRHEA. MESH:D000236|MESH:D010911 C04.557.470.035.625|C04.588.322.609.792|C10.228.140.617.738.675.800|C19.344.609.792|C19.700.734.792 C04.557.470.035|C04.588.322.609|C10.228.140.617.738.675|C19.344.609|C19.700.734 Adenoma, Lactotroph|Adenoma, Prolactin-Secreting, Pituitary|Adenomas, Lactotroph|Lactotroph Adenoma|Lactotroph Adenomas|Macroprolactinoma|Macroprolactinomas|Microprolactinoma|Microprolactinomas|Pituitary Adenoma, PRL-Secreting|Pituitary Adenoma, Prolactin-Producing|Pituitary Adenoma, Prolactin Secreting|Pituitary Adenoma, Prolactin-Secreting|Pituitary Adenomas, PRL-Secreting|Pituitary Adenomas, Prolactin-Producing|Pituitary Adenomas, Prolactin-Secreting|PRL Secreting Pituitary Adenoma|PRL-Secreting Pituitary Adenoma|PRL-Secreting Pituitary Adenomas|Prolactinoma, Familial|Prolactinomas|Prolactin Producing Pituitary Adenoma|Prolactin-Producing Pituitary Adenoma|Prolactin-Producing Pituitary Adenomas|Prolactin Secreting Pituitary Adenoma|Prolactin-Secreting Pituitary Adenoma|Prolactin-Secreting Pituitary Adenomas Cancer|Endocrine system disease|Nervous system disease Prolapse MESH:D011391 The protrusion of an organ or part of an organ into a natural or artificial orifice. MESH:D020763 C23.300.842 C23.300 Prolapses Pathology (anatomical condition) Prolidase Deficiency MESH:D056732 DO:DOID:0111540|OMIM:170100 Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY. MESH:D000015|MESH:D000592|MESH:D012868|MESH:D012873 C16.131.077.735|C16.131.831.720|C16.320.565.100.794|C16.320.850.746 C16.131.077|C16.131.831|C16.320.565.100|C16.320.850 Deficiencies, Imidodipeptidase|Deficiencies, Prolidase|Deficiency, Imidodipeptidase|Deficiency, Prolidase|Hyperimidodipeptiduria|Hyperimidodipeptidurias|Imidodipeptidase Deficiencies|Imidodipeptidase Deficiency|Prolidase Deficiencies Congenital abnormality|Genetic disease (inborn) Prolonged Bleeding Time, Brachydactyly, and Mental Retardation MESH:C564207 MESH:D008607|MESH:D025861|MESH:D059327 C05.660.585.262/C564207|C10.597.606.360/C564207|C15.378.100.100/C564207|C16.131.621.585.262/C564207|C16.320.099/C564207|C23.888.592.604.646/C564207|F03.625.539/C564207 C05.660.585.262|C10.597.606.360|C15.378.100.100|C16.131.621.585.262|C16.320.099|C23.888.592.604.646|F03.625.539 Blood disease|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Prolonged Electroretinal Response Suppression MESH:C564243 DO:DOID:0050335|OMIM:608415 MESH:D015785 C11.270/C564243|C16.320.290/C564243 C11.270|C16.320.290 Bradyopsia|BRADYOPSIA 1|PERRS|PERRS1|PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 1 Eye disease|Genetic disease (inborn) Pronation-Supination Of The Forearm, Impairment Of MESH:C566757 MESH:D009069 C10.228.662/C566757 C10.228.662 Nervous system disease Proopiomelanocortin Deficiency MESH:C565726 OMIM:609734 MESH:D000309|MESH:D009765 C18.654.726.750.500/C565726|C19.053.500/C565726|C23.888.144.699.500/C565726 C18.654.726.750.500|C19.053.500|C23.888.144.699.500 OBAIRH|Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair|OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR|PROOPIOMELANOCORTIN DEFICIENCY Endocrine system disease|Nutrition disorder|Signs and symptoms Properdin Deficiency, Type II MESH:C564075 MESH:D000081208|MESH:D040181 C16.320.322/C564075|C16.320.798.500/C564075|C20.673.795.500/C564075 C16.320.322|C16.320.798.500|C20.673.795.500 Genetic disease (inborn)|Immune system disease Properdin Deficiency, Type III MESH:C564076 MESH:D000081208|MESH:D040181 C16.320.322/C564076|C16.320.798.500/C564076|C20.673.795.500/C564076 C16.320.322|C16.320.798.500|C20.673.795.500 Genetic disease (inborn)|Immune system disease Properdin deficiency, X-linked MESH:C537241 DO:DOID:0111768|OMIM:312060 MESH:D000081208|MESH:D040181 C16.320.322/C537241|C16.320.798.500/C537241|C20.673.795.500/C537241 C16.320.322|C16.320.798.500|C20.673.795.500 CFPD|COMPLEMENT FACTOR PROPERDIN DEFICIENCY|PFD|Properdin deficiency, type 1|Properdin Deficiency, Type I|PROPERDIN DEFICIENCY, TYPE III, INCLUDED|PROPERDIN DEFICIENCY, TYPE I PROPERDIN DEFICIENCY, TYPE II, INCLUDED|Properdin P factor deficiency Genetic disease (inborn)|Immune system disease Propionic Acidemia MESH:D056693 DO:DOID:14701|OMIM:606054 Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia. MESH:D000592 C16.320.565.100.823|C18.452.648.100.823 C16.320.565.100|C18.452.648.100 Acidemia Propionic|Acidemia, Propionic|Acidemia Propionics|Acidemias, Propionic|Aciduria, Propionic|Acidurias, Propionic|Carboxylase Deficiencies, Propionyl-CoA|Carboxylase Deficiency, Propionyl-CoA|Deficiencies, PCC|Deficiencies, Propionyl-CoA Carboxylase|Deficiency, PCC|Deficiency, Propionyl-CoA Carboxylase|Glycinemia, Ketotic|Glycinemias, Ketotic|Hyperglycinemia, Ketotic|Hyperglycinemias, Ketotic|Hyperglycinemia With Ketoacidosis And Leukopenia|Ketotic Glycinemia|Ketotic Glycinemias|Ketotic Hyperglycinemia|Ketotic Hyperglycinemias|PCC Deficiencies|PCC Deficiency|Propionicacidemia|Propionic, Acidemia|Propionicacidemias|Propionic Acidemias|Propionicaciduria|Propionic Aciduria|Propionicacidurias|Propionic Acidurias|Propionics, Acidemia|Propionyl-CoA Carboxylase Deficiencies|Propionyl CoA Carboxylase Deficiency|Propionyl-CoA Carboxylase Deficiency Genetic disease (inborn)|Metabolic disease Propofol Infusion Syndrome MESH:D000072736 Rare and often fatal drug complication which affects patients undergoing long-term treatment with high doses of PROPOFOL. It is characterized by METABOLIC ACIDOSIS; HYPERLIPIDEMIA; RHABDOMYOLYSIS; cardiovascular CIRCULATORY COLLAPSE; CARDIAC FAILURE; and KIDNEY FAILURE. MESH:D064420 C25.100.844 C25.100 Propofol Infusion Syndromes|Propofol Related Infusion Syndrome|Propofol-Related Infusion Syndrome|Propofol-Related Infusion Syndromes|Propofol Syndrome|Propofol Syndromes Propping Zerres syndrome MESH:C538052 OMIM:103285 MESH:D000848|MESH:D004476|MESH:D007767|MESH:D009264|MESH:D010859|MESH:D017880 C05.660.585/C538052|C07.650.800.100/C538052|C07.793.700.100/C538052|C11.496.456/C538052|C16.131.077.350/C538052|C16.131.621.585/C538052|C16.131.831.350/C538052|C16.131.850.800.100/C538052|C16.320.850.250/C538052|C17.800.621/C538052|C17.800.804.350/C538052|C17.800.827.250/C538052|C23.300.820/C538052|C23.550.755/C538052 C05.660.585|C07.650.800.100|C07.793.700.100|C11.496.456|C16.131.077.350|C16.131.621.585|C16.131.831.350|C16.131.850.800.100|C16.320.850.250|C17.800.621|C17.800.804.350|C17.800.827.250|C23.300.820|C23.550.755 Acro-dermato-ungual-lacrimal-tooth syndrome|ADULT syndrome|Pigment anomaly ectrodactyly hypodontia Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process)|Skin disease Proprotein Convertase 1 3 Deficiency MESH:C563423 DO:DOID:0111698|OMIM:600955 MESH:D004700|MESH:D009765 C18.654.726.750.500/C563423|C19/C563423|C23.888.144.699.500/C563423 C18.654.726.750.500|C19|C23.888.144.699.500 Obesity and Endocrinopathy due to Impaired Processing of Prohormones|PROPROTEIN CONVERTASE 1/3 DEFICIENCY Endocrine system disease|Nutrition disorder|Signs and symptoms Prosopagnosia MESH:D020238 DO:DOID:4970 The inability to recognize a familiar face or to learn to recognize new faces. This visual agnosia is most often associated with lesions involving the junctional regions between the temporal and occipital lobes. The majority of cases are associated with bilateral lesions, however unilateral damage to the right occipito-temporal cortex has also been associated with this condition. (From Cortex 1995 Jun;31(2):317-29). MESH:D000377 C10.597.606.762.100.650|C23.888.592.604.764.100.650 C10.597.606.762.100|C23.888.592.604.764.100 Acquired Prosopagnosia|Acquired Prosopagnosias|Agnosia, Facial Recognition|Agnosia for Face|Agnosia for Faces|Agnosias, Facial Recognition|Developmental Prosopagnosia|Developmental Prosopagnosias|Facial Recognition Agnosia|Facial Recognition Agnosias|Prosopagnosia, Acquired|Prosopagnosia, Developmental|Prosopagnosias|Prosopagnosias, Acquired|Prosopagnosias, Developmental|Recognition Agnosia, Facial|Recognition Agnosias, Facial Nervous system disease|Signs and symptoms Prosopagnosia, hereditary MESH:C537242 MESH:D020238 C10.597.606.762.100.650/C537242|C23.888.592.604.764.100.650/C537242 C10.597.606.762.100.650|C23.888.592.604.764.100.650 Face blindness|Prosopagnosia, congenital Nervous system disease|Signs and symptoms Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet MESH:C567786 MESH:D001778|MESH:D001791 C15.378.100/C567786|C15.378.140/C567786 C15.378.100|C15.378.140 PGHS1 Deficiency|Platelet Cox1 Deficiency|Platelet Cyclooxygenase 1 Deficiency Blood disease PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY OMIM:603688 MESH:D001932|MESH:D011471 C04.588.614.250.195/603688|C04.588.945.440.770/603688|C10.228.140.211/603688|C10.551.240.250/603688|C12.100.500.260.750/603688|C12.100.500.565.625/603688|C12.200.294.260.750/603688|C12.200.294.565.625/603688|C12.200.758.409.750/603688|C12.900.619.750/603688 C04.588.614.250.195|C04.588.945.440.770|C10.228.140.211|C10.551.240.250|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 CAPB|PCBC Cancer|Nervous system disease|Urogenital disease (male) Prostate cancer, familial MESH:C537243 OMIM:601518 MESH:D011471 C04.588.945.440.770/C537243|C12.100.500.260.750/C537243|C12.100.500.565.625/C537243|C12.200.294.260.750/C537243|C12.200.294.565.625/C537243|C12.200.758.409.750/C537243|C12.900.619.750/C537243 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 Hereditary prostate cancer|HPC1|PRCA1|Prostate Cancer, Hereditary, 1 Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 10 MESH:C567011 OMIM:611100 MESH:D011471 C04.588.945.440.770/C567011|C12.100.500.260.750/C567011|C12.100.500.565.625/C567011|C12.200.294.260.750/C567011|C12.200.294.565.625/C567011|C12.200.758.409.750/C567011|C12.900.619.750/C567011 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC10 Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 11 MESH:C567449 OMIM:611955 MESH:D011471 C04.588.945.440.770/C567449|C12.100.500.260.750/C567449|C12.100.500.565.625/C567449|C12.200.294.260.750/C567449|C12.200.294.565.625/C567449|C12.200.758.409.750/C567449|C12.900.619.750/C567449 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC11 Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 12 MESH:C567510 OMIM:611868 MESH:D009386|MESH:D011471 C04.588.945.440.770/C567510|C04.700/C567510|C12.100.500.260.750/C567510|C12.100.500.565.625/C567510|C12.200.294.260.750/C567510|C12.200.294.565.625/C567510|C12.200.758.409.750/C567510|C12.900.619.750/C567510|C16.320.700/C567510 C04.588.945.440.770|C04.700|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750|C16.320.700 Hpc12 Cancer|Genetic disease (inborn)|Urogenital disease (male) Prostate Cancer, Hereditary, 13 MESH:C567456 OMIM:611928 MESH:D011471 C04.588.945.440.770/C567456|C12.100.500.260.750/C567456|C12.100.500.565.625/C567456|C12.200.294.260.750/C567456|C12.200.294.565.625/C567456|C12.200.758.409.750/C567456|C12.900.619.750/C567456 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC13 Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 14 MESH:C567448 OMIM:611958 MESH:D011471 C04.588.945.440.770/C567448|C12.100.500.260.750/C567448|C12.100.500.565.625/C567448|C12.200.294.260.750/C567448|C12.200.294.565.625/C567448|C12.200.758.409.750/C567448|C12.900.619.750/C567448 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC14 Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 15 MESH:C567447 OMIM:611959 MESH:D011471 C04.588.945.440.770/C567447|C12.100.500.260.750/C567447|C12.100.500.565.625/C567447|C12.200.294.260.750/C567447|C12.200.294.565.625/C567447|C12.200.758.409.750/C567447|C12.900.619.750/C567447 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC15 Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 3 MESH:C563883 OMIM:608656 MESH:D011471 C04.588.945.440.770/C563883|C12.100.500.260.750/C563883|C12.100.500.565.625/C563883|C12.200.294.260.750/C563883|C12.200.294.565.625/C563883|C12.200.758.409.750/C563883|C12.900.619.750/C563883 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC3 Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 4 MESH:C563882 OMIM:608658 MESH:D011471 C04.588.945.440.770/C563882|C12.100.500.260.750/C563882|C12.100.500.565.625/C563882|C12.200.294.260.750/C563882|C12.200.294.565.625/C563882|C12.200.758.409.750/C563882|C12.900.619.750/C563882 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC4|Prostate Cancer, Hereditary, on Chromosome 7 Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 5 MESH:C563744 OMIM:609299 MESH:D011471 C04.588.945.440.770/C563744|C12.100.500.260.750/C563744|C12.100.500.565.625/C563744|C12.200.294.260.750/C563744|C12.200.294.565.625/C563744|C12.200.758.409.750/C563744|C12.900.619.750/C563744 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC5 Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 6 MESH:C563699 OMIM:609558 MESH:D011471 C04.588.945.440.770/C563699|C12.100.500.260.750/C563699|C12.100.500.565.625/C563699|C12.200.294.260.750/C563699|C12.200.294.565.625/C563699|C12.200.758.409.750/C563699|C12.900.619.750/C563699 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC6 Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 7 MESH:C565201 OMIM:610321 MESH:D011471 C04.588.945.440.770/C565201|C12.100.500.260.750/C565201|C12.100.500.565.625/C565201|C12.200.294.260.750/C565201|C12.200.294.565.625/C565201|C12.200.758.409.750/C565201|C12.900.619.750/C565201 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC7|Prostate Cancer Aggressiveness Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 8 MESH:C566426 OMIM:602759 MESH:D011471 C04.588.945.440.770/C566426|C12.100.500.260.750/C566426|C12.100.500.565.625/C566426|C12.200.294.260.750/C566426|C12.200.294.565.625/C566426|C12.200.758.409.750/C566426|C12.900.619.750/C566426 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC8|PCAP|Predisposing For Prostate Cancer Cancer|Urogenital disease (male) Prostate Cancer, Hereditary, 9 MESH:C567031 OMIM:610997 MESH:D011471 C04.588.945.440.770/C567031|C12.100.500.260.750/C567031|C12.100.500.565.625/C567031|C12.200.294.260.750/C567031|C12.200.294.565.625/C567031|C12.200.758.409.750/C567031|C12.900.619.750/C567031 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 HPC9 Cancer|Urogenital disease (male) PROSTATE CANCER, HEREDITARY, X-LINKED 1 OMIM:300147 DO:DOID:10283 MESH:D011471|MESH:D040181 C04.588.945.440.770/300147|C12.100.500.260.750/300147|C12.100.500.565.625/300147|C12.200.294.260.750/300147|C12.200.294.565.625/300147|C12.200.758.409.750/300147|C12.900.619.750/300147|C16.320.322/300147 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750|C16.320.322 HPCX1|PCSX|PROSTATE CANCER SUSCEPTIBILITY, X-LINKED Cancer|Genetic disease (inborn)|Urogenital disease (male) Prostate Cancer, Hereditary, X-Linked 2 MESH:C567477 OMIM:300704 MESH:D011471|MESH:D040181 C04.588.945.440.770/C567477|C12.100.500.260.750/C567477|C12.100.500.565.625/C567477|C12.200.294.260.750/C567477|C12.200.294.565.625/C567477|C12.200.758.409.750/C567477|C12.900.619.750/C567477|C16.320.322/C567477 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750|C16.320.322 HPCX2 Cancer|Genetic disease (inborn)|Urogenital disease (male) Prostatic Diseases MESH:D011469 DO:DOID:47 Pathological processes involving the PROSTATE or its component tissues. MESH:D005832 C12.100.500.565|C12.200.294.565 C12.100.500|C12.200.294 Disease, Prostatic|Diseases, Prostatic|Prostatic Disease Urogenital disease (male) Prostatic Hyperplasia MESH:D011470 DO:DOID:2883 Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both. MESH:D011469 C12.100.500.565.500|C12.200.294.565.500 C12.100.500.565|C12.200.294.565 Adenoma, Prostatic|Adenomas, Prostatic|Benign Prostatic Hyperplasia|Benign Prostatic Hyperplasias|Benign Prostatic Hypertrophy|Hyperplasia, Benign Prostatic|Hyperplasia, Prostatic|Hyperplasias, Benign Prostatic|Hypertrophies, Prostatic|Hypertrophy, Benign Prostatic|Hypertrophy, Prostatic|Prostatic Adenoma|Prostatic Adenomas|Prostatic Hyperplasia, Benign|Prostatic Hyperplasias, Benign|Prostatic Hypertrophies|Prostatic Hypertrophy|Prostatic Hypertrophy, Benign Urogenital disease (male) Prostatic Intraepithelial Neoplasia MESH:D019048 A premalignant change arising in the prostatic epithelium, regarded as the most important and most likely precursor of prostatic adenocarcinoma. The neoplasia takes the form of an intra-acinar or ductal proliferation of secretory cells with unequivocal nuclear anaplasia, which corresponds to nuclear grade 2 and 3 invasive prostate cancer. MESH:D002278 C04.557.470.200.240.500 C04.557.470.200.240 Intraepithelial Neoplasia, Prostatic|Intraepithelial Neoplasm, Prostatic|Intraepithelial Neoplasms, Prostatic|Intraepithelial Prostatic Neoplasia|Intraepithelial Prostatic Neoplasias|Neoplasia, Intraepithelial Prostatic|Neoplasia, Prostatic Intraepithelial|Neoplasm, Prostatic Intraepithelial|Neoplasms, Prostatic Intraepithelial|Prostatic Intraepithelial Neoplasias|Prostatic Intraepithelial Neoplasm|Prostatic Intraepithelial Neoplasms|Prostatic Neoplasia, Intraepithelial Cancer Prostatic malacoplakia associated with prostatic abscess MESH:C537244 MESH:D008287 C23.550.548/C537244 C23.550.548 Prostatic malacoplakia with prostatic and seminal vesicle abscess Pathology (process) Prostatic Neoplasms MESH:D011471 DO:DOID:10283|OMIM:176807|OMIM:607592 Tumors or cancer of the PROSTATE. MESH:D005834|MESH:D011469 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 C04.588.945.440|C12.100.500.260|C12.100.500.565|C12.200.294.260|C12.200.294.565|C12.200.758.409|C12.900.619 Cancer of Prostate|Cancer of the Prostate|Cancer, Prostate|Cancer, Prostatic|Cancers, Prostate|Cancers, Prostatic|HPCQTL19|Neoplasm, Prostate|Neoplasm, Prostatic|Neoplasms, Prostate|Neoplasms, Prostatic|Prostate Cancer|PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19|Prostate Cancers|Prostate Neoplasm|Prostate Neoplasms|Prostatic Cancer|Prostatic Cancers|Prostatic Neoplasm Cancer|Urogenital disease (male) Prostatic Neoplasms, Castration-Resistant MESH:D064129 DO:DOID:0080909 Tumors or cancer of the PROSTATE which can grow in the presence of low or residual amount of androgen hormones such as TESTOSTERONE. MESH:D011471 C04.588.945.440.770.500|C12.100.500.260.750.500|C12.100.500.565.625.500|C12.200.294.260.750.500|C12.200.294.565.625.500|C12.200.758.409.750.500|C12.900.619.750.500 C04.588.945.440.770|C12.100.500.260.750|C12.100.500.565.625|C12.200.294.260.750|C12.200.294.565.625|C12.200.758.409.750|C12.900.619.750 Androgen Independent Prostatic Cancer|Androgen-Independent Prostatic Cancer|Androgen-Independent Prostatic Cancers|Androgen-Independent Prostatic Neoplasm|Androgen Independent Prostatic Neoplasms|Androgen-Independent Prostatic Neoplasms|Androgen Insensitive Prostatic Cancer|Androgen-Insensitive Prostatic Cancer|Androgen-Insensitive Prostatic Cancers|Androgen-Insensitive Prostatic Neoplasm|Androgen Insensitive Prostatic Neoplasms|Androgen-Insensitive Prostatic Neoplasms|Androgen Resistant Prostatic Cancer|Androgen-Resistant Prostatic Cancer|Androgen-Resistant Prostatic Cancers|Androgen-Resistant Prostatic Neoplasm|Androgen Resistant Prostatic Neoplasms|Androgen-Resistant Prostatic Neoplasms|Cancer, Androgen-Independent Prostatic|Cancer, Androgen-Insensitive Prostatic|Cancer, Androgen-Resistant Prostatic|Cancer, Castration-Resistant Prostatic|Cancers, Androgen-Independent Prostatic|Cancers, Androgen-Insensitive Prostatic|Cancers, Androgen-Resistant Prostatic|Cancers, Castration-Resistant Prostatic|Castration Resistant Prostatic Cancer|Castration-Resistant Prostatic Cancer|Castration-Resistant Prostatic Cancers|Castration-Resistant Prostatic Neoplasm|Castration Resistant Prostatic Neoplasms|Castration-Resistant Prostatic Neoplasms|Hormone Refractory Prostatic Cancer|Hormone Refractory Prostatic Neoplasms|Neoplasm, Androgen-Independent Prostatic|Neoplasm, Androgen-Insensitive Prostatic|Neoplasm, Androgen-Resistant Prostatic|Neoplasm, Castration-Resistant Prostatic|Neoplasms, Androgen-Independent Prostatic|Neoplasms, Androgen-Insensitive Prostatic|Neoplasms, Androgen-Resistant Prostatic|Neoplasms, Castration-Resistant Prostatic|Prostatic Cancer, Androgen Independent|Prostatic Cancer, Androgen-Independent|Prostatic Cancer, Androgen Insensitive|Prostatic Cancer, Androgen-Insensitive|Prostatic Cancer, Androgen Resistant|Prostatic Cancer, Androgen-Resistant|Prostatic Cancer, Castration Resistant|Prostatic Cancer, Castration-Resistant|Prostatic Cancer, Hormone Refractory|Prostatic Cancers, Androgen-Independent|Prostatic Cancers, Androgen-Insensitive|Prostatic Cancers, Androgen-Resistant|Prostatic Cancers, Castration-Resistant|Prostatic Neoplasm, Androgen-Independent|Prostatic Neoplasm, Androgen-Insensitive|Prostatic Neoplasm, Androgen-Resistant|Prostatic Neoplasm, Castration-Resistant|Prostatic Neoplasms, Androgen Independent|Prostatic Neoplasms, Androgen-Independent|Prostatic Neoplasms, Androgen Insensitive|Prostatic Neoplasms, Androgen-Insensitive|Prostatic Neoplasms, Androgen Resistant|Prostatic Neoplasms, Androgen-Resistant|Prostatic Neoplasms, Castration Resistant|Prostatic Neoplasms, Hormone Refractory Cancer|Urogenital disease (male) Prostatic stromal proliferation of uncertain malignant potential MESH:C537245 MESH:D011470 C12.100.500.565.500/C537245|C12.200.294.565.500/C537245 C12.100.500.565.500|C12.200.294.565.500 Urogenital disease (male) Prostatism MESH:D053448 Lower urinary tract symptom, such as slow urinary stream, associated with PROSTATIC HYPERPLASIA in older men. MESH:D059411 C23.888.942.343.600 C23.888.942.343 Signs and symptoms Prostatitis MESH:D011472 DO:DOID:14654 Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment. MESH:D011469 C12.100.500.565.750|C12.200.294.565.750 C12.100.500.565|C12.200.294.565 Acute Bacterial Prostatitides|Acute Bacterial Prostatitis|Asymptomatic Inflammatory Prostatitides|Asymptomatic Inflammatory Prostatitis|Bacterial Prostatitides, Acute|Bacterial Prostatitides, Chronic|Bacterial Prostatitis, Acute|Bacterial Prostatitis, Chronic|Chronic Bacterial Prostatitides|Chronic Bacterial Prostatitis|Chronic Prostatitis with Chronic Pelvic Pain Syndrome|Inflammatory Prostatitis, Asymptomatic|Prostatitides|Prostatitides, Chronic Bacterial Urogenital disease (male) Prosthesis Failure MESH:D011475 Malfunction of implantation shunts, valves, etc., and prosthesis loosening, migration, and breaking. MESH:D011183 C23.550.767.865 C23.550.767 Durabilities, Prosthesis|Durability, Prosthesis|Failure, Prosthesis|Failures, Prosthesis|Loosening, Prosthesis|Loosenings, Prosthesis|Migration, Prosthesis|Migrations, Prosthesis|Prosthesis Durabilities|Prosthesis Durability|Prosthesis Failures|Prosthesis Loosening|Prosthesis Loosenings|Prosthesis Migration|Prosthesis Migrations|Prosthesis Survival|Prosthesis Survivals|Survival, Prosthesis|Survivals, Prosthesis Pathology (process) Prosthesis-Related Infections MESH:D016459 Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late). MESH:D007239|MESH:D011183 C01.685|C23.550.767.868 C01|C23.550.767 Infection, Prosthesis Related|Infections, Prosthesis-Related|Prosthesis Related Infection|Prosthesis-Related Infection|Prosthesis Related Infections|Related Infection, Prosthesis|Related Infections, Prosthesis Pathology (process) PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 OMIM:256040 DO:DOID:0050553 MESH:D007249|MESH:D008060|MESH:D012871|MESH:D056660 C16.320.382/256040|C17.800/256040|C17.800.827.368/256040|C17.800.849.391/256040|C18.452.584.625/256040|C18.452.880.391/256040|C23.550.470/256040 C16.320.382|C17.800|C17.800.827.368|C17.800.849.391|C18.452.584.625|C18.452.880.391|C23.550.470 AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME;ALDD PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC, INCLUDED|CANDLE|CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATED TEMPERATURE SYNDROME|JMP SYNDROME|JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY|NAKAJO-NISHIMURA SYNDROME|NKJO|PRAAS1 Genetic disease (inborn)|Metabolic disease|Pathology (process)|Skin disease Protein Aggregation, Pathological MESH:D066263 A biochemical phenomenon in which misfolded proteins aggregate either intra- or extracellularly. Triggered by factors such as MUTATION; POST-TRANSLATIONAL MODIFICATIONS, and environmental stress, it is generally associated with ALZHEIMER DISEASE; PARKINSON DISEASE; HUNTINGTON DISEASE; and TYPE 2 DIABETES MELLITUS. MESH:D010335 C23.550.770 C23.550 Aggregation, Pathological Protein|Pathological Protein Aggregation Pathology (process) Protein C Deficiency MESH:D020151 DO:DOID:3756 An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.) MESH:D001796|MESH:D019851|MESH:D025861 C15.378.100.100.690|C15.378.147.880|C15.378.925.795|C16.320.099.690 C15.378.100.100|C15.378.147|C15.378.925|C16.320.099 Deficiencies, Protein C|Deficiency, Protein C|Hereditary Thrombophilia Due To Protein C Deficiency|Protein C Deficiencies Blood disease|Genetic disease (inborn) Protein C Deficiency, Acquired MESH:C567164 MESH:D020151 C15.378.100.100.690/C567164|C15.378.147.880/C567164|C15.378.925.795/C567164|C16.320.099.690/C567164 C15.378.100.100.690|C15.378.147.880|C15.378.925.795|C16.320.099.690 Blood disease|Genetic disease (inborn) Protein Deficiency MESH:D011488 A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison's Principles of Internal Medicine, 12th ed, p406) MESH:D003677 C18.654.521.500.708 C18.654.521.500 Deficiencies, Protein|Deficiency, Protein|Protein Deficiencies Nutrition disorder Protein-Energy Malnutrition MESH:D011502 DO:DOID:11801|DO:DOID:12328 The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses. MESH:D011488 C18.654.521.500.708.626 C18.654.521.500.708 Malnutrition, Protein-Calorie|Malnutrition, Protein-Energy|Malnutritions, Protein-Energy|Marasmus|Protein Calorie Malnutrition|Protein-Calorie Malnutrition|Protein Energy Malnutrition Nutrition disorder Protein-Losing Enteropathies MESH:D011504 DO:DOID:10611|OMIM:226300 Pathological conditions in the INTESTINES that are characterized by the gastrointestinal loss of serum proteins, including SERUM ALBUMIN; IMMUNOGLOBULINS; and at times LYMPHOCYTES. Severe condition can result in HYPOGAMMAGLOBULINEMIA or LYMPHOPENIA. Protein-losing enteropathies are associated with a number of diseases including INTESTINAL LYMPHANGIECTASIS; WHIPPLE'S DISEASE; and NEOPLASMS of the SMALL INTESTINE. MESH:D007410 C06.405.469.818 C06.405.469 CHAPLE|COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY|Enteropathies, Exudative|Enteropathies, Protein-Losing|Enteropathy, Exudative|Enteropathy, Protein-Losing|Exudative Enteropathies|Exudative Enteropathy|Hypercatabolic Hypoproteinemia, Idiopathic|Hypercatabolic Hypoproteinemias, Idiopathic|Hypoproteinemia, Idiopathic Hypercatabolic|Hypoproteinemias, Idiopathic Hypercatabolic|Idiopathic Hypercatabolic Hypoproteinemia|Idiopathic Hypercatabolic Hypoproteinemias|Protein Losing Enteropathies|Protein Losing Enteropathy|Protein-Losing Enteropathy Digestive system disease Protein S Deficiency MESH:D018455 DO:DOID:2451 An autosomal dominant disorder showing decreased levels of plasma protein S antigen or activity, associated with venous thrombosis and pulmonary embolism. PROTEIN S is a vitamin K-dependent plasma protein that inhibits blood clotting by serving as a cofactor for activated PROTEIN C (also a vitamin K-dependent protein), and the clinical manifestations of its deficiency are virtually identical to those of protein C deficiency. Treatment with heparin for acute thrombotic processes is usually followed by maintenance administration of coumarin drugs for the prevention of recurrent thrombosis. (From Harrison's Principles of Internal Medicine, 12th ed, p1511; Wintrobe's Clinical Hematology, 9th ed, p1523) MESH:D001778|MESH:D001796|MESH:D019851 C15.378.100.800|C15.378.147.890|C15.378.925.800 C15.378.100|C15.378.147|C15.378.925 Deficiencies, Protein S|Deficiency, Protein S|Hereditary Thrombophilia Due To Protein S Deficiency|Protein S Deficiencies Blood disease Proteinuria MESH:D011507 DO:DOID:576 The presence of proteins in the urine, an indicator of KIDNEY DISEASES. MESH:D014555|MESH:D020924 C12.050.351.968.934.734|C12.200.777.934.734|C12.950.934.734|C23.888.942.750 C12.050.351.968.934|C12.200.777.934|C12.950.934|C23.888.942 Proteinurias Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Proteostasis Deficiencies MESH:D057165 Disorders caused by imbalances in the PROTEIN HOMEOSTASIS network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. MESH:D008659 C18.452.845 C18.452 Deficiency, Proteostasis|Disease, Protein Folding|Disease, Protein Misfolding|Disorder, Protein Folding|Disorder, Protein Misfolding|Dysfunction, Proteostasis|Folding Disease, Protein|Folding Disorder, Protein|Misfolding Disease, Protein|Misfolding Disorder, Protein|Protein Folding Disease|Protein Folding Diseases|Protein Folding Disorder|Protein Folding Disorders|Protein Misfolding Disease|Protein Misfolding Diseases|Protein Misfolding Disorder|Protein Misfolding Disorders|Proteinopathies|Proteinopathy|Proteostasis Deficiency|Proteostasis Dysfunction|Proteostasis Dysfunctions Metabolic disease Proteus Infections MESH:D011512 Infections with bacteria of the genus PROTEUS. MESH:D004756 C01.150.252.400.310.708 C01.150.252.400.310 Infection, Proteus|Infections, Proteus|Proteus Infection Bacterial infection or mycosis Proteus Syndrome MESH:D016715 DO:DOID:13482|OMIM:176920 Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called 'elephant man', apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics. MESH:D000015|MESH:D001848|MESH:D006223|MESH:D017880 C04.445.435.500|C04.651.435.500|C05.116.099.750|C05.660.585.620|C16.131.077.740|C16.131.621.585.620 C04.445.435|C04.651.435|C05.116.099|C05.660.585|C16.131.077|C16.131.621.585 Elephant Man Disease|GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY ELATTOPROTEUS SYNDROME, INCLUDED|Proteus Like Syndrome|Proteus-Like Syndrome|Syndrome, Proteus-Like Cancer|Congenital abnormality|Musculoskeletal disease PROTHROMBIN DEFICIENCY, CONGENITAL OMIM:613679 DO:DOID:2235 MESH:D007020 C15.378.100.100.550/613679|C15.378.100.141.550/613679|C15.378.463.550/613679|C16.320.099.550/613679 C15.378.100.100.550|C15.378.100.141.550|C15.378.463.550|C16.320.099.550 HYPOPROTHROMBINEMIA DYSPROTHROMBINEMIA, INCLUDED Blood disease|Genetic disease (inborn) Protoporphyria, Erythropoietic MESH:D046351 DO:DOID:13270|OMIM:177000 An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces. MESH:D017094 C06.552.830.812|C16.320.850.742.812|C17.800.827.742.812|C18.452.811.400.812 C06.552.830|C16.320.850.742|C17.800.827.742|C18.452.811.400 Deficiencies, Ferrochelatase|Deficiencies, Heme Synthetase|Deficiency, Ferrochelatase|Deficiency, Heme Synthetase|EPP|EPP1|Erythrohepatic Protoporphyria|Erythropoietic Protoporphyria|Erythropoietic Protoporphyrias|Ferrochelatase Deficiencies|Ferrochelatase Deficiency|Heme Synthetase Deficiencies|Heme Synthetase Deficiency|PROTOPORPHYRIA, ERYTHROPOIETIC|PROTOPORPHYRIA, ERYTHROPOIETIC, 1|Protoporphyrias, Erythropoietic|Synthetase Deficiencies, Heme|Synthetase Deficiency, Heme Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED OMIM:300752 DO:DOID:13270 MESH:D046351 C06.552.830.812/300752|C16.320.850.742.812/300752|C17.800.827.742.812/300752|C18.452.811.400.812/300752 C06.552.830.812|C16.320.850.742.812|C17.800.827.742.812|C18.452.811.400.812 ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED|PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT|XLDPP|XLEPP Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Protoporphyria, Erythropoietic, X-Linked Dominant MESH:C567464 MESH:D040181|MESH:D046351 C06.552.830.812/C567464|C16.320.322/C567464|C16.320.850.742.812/C567464|C17.800.827.742.812/C567464|C18.452.811.400.812/C567464 C06.552.830.812|C16.320.322|C16.320.850.742.812|C17.800.827.742.812|C18.452.811.400.812 Erythrohepatic Protoporphyria, X-Linked|Xldpt Digestive system disease|Genetic disease (inborn)|Metabolic disease|Skin disease Prototheca mastitis MESH:C000656806 MESH:D008414 C22.196.581/C000656806 C22.196.581 bovine protothecal mastitis|bovine prototheca mastitis Animal disease protothecosis MESH:C000656805 MESH:D012874 C01.800/C000656805|C17.800.838/C000656805 C01.800|C17.800.838 Prototheca skin infection Skin disease Protozoan Infections MESH:D011528 DO:DOID:2789 Infections with unicellular organisms formerly members of the subkingdom Protozoa. MESH:D010272 C01.610.752 C01.610 Histomoniases|Histomoniasis|Infection, Protozoan|Infections, Protozoan|Protozoan Infection Parasitic disease Protozoan Infections, Animal MESH:D011529 Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary. MESH:D010273|MESH:D011528 C01.610.701.688|C01.610.752.625|C22.674.710 C01.610.701|C01.610.752|C22.674 Animal Protozoan Infection|Animal Protozoan Infections|Infection, Animal Protozoan|Infections, Animal Protozoan|Protozoan Infection, Animal Animal disease|Parasitic disease Proud Syndrome MESH:C563110 OMIM:300004 MESH:D008607|MESH:D014564|MESH:D040181|MESH:D061085 C10.500.034/C563110|C10.597.606.360/C563110|C12.050.351.875/C563110|C12.200.706/C563110|C12.800/C563110|C16.131.666.034/C563110|C16.131.939/C563110|C16.320.322/C563110|C23.300.008/C563110|C23.888.592.604.646/C563110|F03.625.539/C563110 C10.500.034|C10.597.606.360|C12.050.351.875|C12.200.706|C12.800|C16.131.666.034|C16.131.939|C16.320.322|C23.300.008|C23.888.592.604.646|F03.625.539 ACC With Abnormal Genitalia|Corpus Callosum, Agenesis of, with Abnormal Genitalia|PROUD SYNDROME Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Proximal Femoral Fractures MESH:D000092526 Fractures of the proximal FEMUR at the HIP. MESH:D005264|MESH:D005265 C26.404.061.425.500.500|C26.404.061.856|C26.531.750.500.500|C26.558.276.425.500.500 C26.404.061|C26.404.061.425.500|C26.531.750.500|C26.558.276.425.500 Femoral Fracture, Proximal|Femoral Fractures, Proximal|Femur Fracture, Proximal|Femur Fractures, Proximal|Fracture, Proximal Femoral|Fracture, Proximal Femur|Fractures, Proximal Femoral|Proximal Femoral Fracture|Proximal Femur Fracture|Proximal Femur Fractures Wounds and injuries Proximal Myopathy with Focal Depletion of Mitochondria MESH:C563453 MESH:D009135|MESH:D028361 C05.651/C563453|C10.668.491/C563453|C18.452.660/C563453 C05.651|C10.668.491|C18.452.660 Metabolic disease|Musculoskeletal disease|Nervous system disease Prune Belly Syndrome MESH:D011535 DO:DOID:0060889|OMIM:100100 A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract abnormalities. The syndrome derives its name from its characteristic distended abdomen with wrinkled skin. MESH:D000015 C16.131.077.745 C16.131.077 Abdominal Muscle Deficiency Syndrome|ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM|Congenital Absence of the Abdominal Muscles|Eagle Barrett Syndrome|Eagle-Barrett Syndrome|EGBRS|Obrinsky Syndrome|PBS|Prune-Belly Syndrome|Prune Belly Syndromes|Prune-Belly Syndromes|Syndrome, Eagle-Barrett|Syndrome, Obrinsky|Syndrome, Prune Belly|Syndrome, Prune-Belly|Syndromes, Prune Belly|Syndromes, Prune-Belly Congenital abnormality Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness MESH:C562894 MESH:D006319|MESH:D008607|MESH:D011535|MESH:D011666 C09.218.458.341.887/C562894|C10.597.606.360/C562894|C10.597.751.418.341.887/C562894|C14.280.484.716/C562894|C14.280.955.750/C562894|C16.131.077.745/C562894|C23.888.592.604.646/C562894|C23.888.592.763.393.341.887/C562894|F03.625.539/C562894 C09.218.458.341.887|C10.597.606.360|C10.597.751.418.341.887|C14.280.484.716|C14.280.955.750|C16.131.077.745|C23.888.592.604.646|C23.888.592.763.393.341.887|F03.625.539 Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Mental disorder|Nervous system disease|Signs and symptoms Prurigo MESH:D011536 A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed) MESH:D012871 C17.800.674 C17.800 Skin disease Pruritic urticarial papules plaques of pregnancy MESH:C535817 MESH:D011248|MESH:D011537 C12.050.703/C535817|C17.800.685/C535817|C23.888.885.625/C535817 C12.050.703|C17.800.685|C23.888.885.625 Polymorphic eruption of pregnancy|Pruritic Urticarial Papules And Plaques of Pregnancy|Pruritic urticarial papules and plaques of pregnancy, familial|PUPPP Pruritic urticarial papules plaques of pregnancy Pregnancy complication|Signs and symptoms|Skin disease Pruritus MESH:D011537 An intense itching sensation that produces the urge to rub or scratch the skin to obtain relief. MESH:D012871|MESH:D012877 C17.800.685|C23.888.885.625 C17.800|C23.888.885 Itching|Pruritis Signs and symptoms|Skin disease Pruritus Ani MESH:D011538 Intense chronic itching in the anal area. MESH:D001004|MESH:D011537 C06.405.469.860.101.752|C17.800.685.544 C06.405.469.860.101|C17.800.685 Digestive system disease|Skin disease Pruritus, Hereditary Localized MESH:C566754 MESH:D011537 C17.800.685/C566754|C23.888.885.625/C566754 C17.800.685|C23.888.885.625 Signs and symptoms|Skin disease Pruritus Vulvae MESH:D011539 Intense itching of the external female genitals. MESH:D011537|MESH:D014845 C12.050.351.500.944.626|C12.100.250.944.626|C17.800.685.710 C12.050.351.500.944|C12.100.250.944|C17.800.685 Skin disease|Urogenital disease (female) Pseudarthrosis MESH:D011542 A pathologic entity characterized by deossification of a weight-bearing long bone, followed by bending and pathologic fracture, with inability to form normal BONY CALLUS leading to existence of the 'false joint' that gives the condition its name. (Dorland, 27th ed) MESH:D005599 C26.404.468.627 C26.404.468 Pseudarthroses|Pseudoarthroses|Pseudoarthrosis Wounds and injuries Pseudoachondroplasia MESH:C535819 DO:DOID:0080047|OMIM:177170 MESH:D000130 C05.116.099.343.110/C535819|C05.116.099.708.017/C535819|C16.320.240.500/C535819 C05.116.099.343.110|C05.116.099.708.017|C16.320.240.500 PSACH|Pseudoachondroplastic dysplasia|Pseudoachondroplastic spondyloepiphyseal dysplasia|Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome|Spondyloepiphyseal Dysplasia, Pseudoachondroplastic Genetic disease (inborn)|Musculoskeletal disease Pseudoachondroplastic dysplasia 2 MESH:C535820 MESH:D000130 C05.116.099.343.110/C535820|C05.116.099.708.017/C535820|C16.320.240.500/C535820 C05.116.099.343.110|C05.116.099.708.017|C16.320.240.500 Recessive pseudoachondroplasia|Spondyloepiphyseal dysplasia pseudoachondroplastic 2 Genetic disease (inborn)|Musculoskeletal disease Pseudoacromegaly with Severe Insulin Resistance MESH:C566531 MESH:D000172|MESH:D007333 C05.116.132.082/C566531|C10.228.140.617.738.250.100/C566531|C18.452.394.968.500/C566531|C19.700.355.179/C566531 C05.116.132.082|C10.228.140.617.738.250.100|C18.452.394.968.500|C19.700.355.179 Endocrine system disease|Metabolic disease|Musculoskeletal disease|Nervous system disease Pseudoainhum MESH:C535821 MESH:D000387|MESH:D003251 C05.116.264.143/C535821|C23.300.287/C535821 C05.116.264.143|C23.300.287 Musculoskeletal disease|Pathology (anatomical condition) Pseudoaminopterin syndrome MESH:C535823 MESH:D000015|MESH:D008607|MESH:D019465 C05.660.207/C535823|C10.597.606.360/C535823|C16.131.077/C535823|C16.131.621.207/C535823|C23.888.592.604.646/C535823|F03.625.539/C535823 C05.660.207|C10.597.606.360|C16.131.077|C16.131.621.207|C23.888.592.604.646|F03.625.539 Aminopterin syndrome sine aminopterin Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Pseudoangiomatous stromal hyperplasia MESH:C535824 MESH:D000798|MESH:D001941|MESH:D006965 C14.907.077/C535824|C17.800.090/C535824|C23.550.444/C535824 C14.907.077|C17.800.090|C23.550.444 Mammary pseudoangiomatous stromal hyperplasia|Pseudoangiomatous stromal hyperplasia of the breast Cardiovascular disease|Pathology (process)|Skin disease Pseudoarthrogryposis MESH:C566753 MESH:D000844|MESH:D009139 C05.550.069/C566753|C05.660/C566753|C16.131.621/C566753 C05.550.069|C05.660|C16.131.621 Ankylosis at Elbow and Knee|Hereditary Congenital Rigidity of Elbows and Knees Congenital abnormality|Musculoskeletal disease Pseudoarylsulfatase A Deficiency MESH:C565403 MESH:D007966 C10.228.140.163.100.362.550/C565403|C10.228.140.163.100.435.825.850.500/C565403|C10.228.140.695.625.550/C565403|C10.314.400.550/C565403|C16.320.565.189.362.550/C565403|C16.320.565.189.435.825.850.500/C565403|C16.320.565.398.641.803.925.500/C565403|C16.320.565.595.554.825.850.500/C565403|C18.452.132.100.362.550/C565403|C18.452.132.100.435.825.850.500/C565403|C18.452.584.563.641.803.925.500/C565403|C18.452.648.189.362.550/C565403|C18.452.648.189.435.825.850.500/C565403|C18.452.648.398.641.803.925.500/C565403|C18.452.648.595.554.825.850.500/C565403 C10.228.140.163.100.362.550|C10.228.140.163.100.435.825.850.500|C10.228.140.695.625.550|C10.314.400.550|C16.320.565.189.362.550|C16.320.565.189.435.825.850.500|C16.320.565.398.641.803.925.500|C16.320.565.595.554.825.850.500|C18.452.132.100.362.550|C18.452.132.100.435.825.850.500|C18.452.584.563.641.803.925.500|C18.452.648.189.362.550|C18.452.648.189.435.825.850.500|C18.452.648.398.641.803.925.500|C18.452.648.595.554.825.850.500 Genetic disease (inborn)|Metabolic disease|Nervous system disease Pseudoatrophoderma Colli MESH:C562909 MESH:D012871 C17.800/C562909 C17.800 Skin disease Pseudobulbar Palsy MESH:D020828 DO:DOID:12680 A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489) MESH:D010243 C10.597.622.714|C23.888.592.636.711 C10.597.622|C23.888.592.636 Bulbar Palsies, Spastic|Bulbar Palsy, Spastic|Dysarthria, Pseudobulbar|Dysarthrias, Pseudobulbar|Mutism, Pseudobulbar|Mutisms, Pseudobulbar|Palsies, Pseudobulbar|Palsies, Spastic Bulbar|Palsy, Pseudobulbar|Palsy, Spastic Bulbar|Paralyses, Pseudobulbar|Paralysis, Pseudobulbar|Pareses, Pseudobulbar|Paresis, Pseudobulbar|Pseudobulbar Dysarthria|Pseudobulbar Dysarthrias|Pseudobulbar Mutism|Pseudobulbar Mutisms|Pseudobulbar Palsies|Pseudobulbar Paralyses|Pseudobulbar Paralysis|Pseudobulbar Pareses|Pseudobulbar Paresis|Pseudobulbar Syndrome|Pseudobulbar Syndromes|Spastic Bulbar Palsies|Spastic Bulbar Palsy|Syndrome, Pseudobulbar|Syndromes, Pseudobulbar Nervous system disease|Signs and symptoms Pseudodiastrophic dysplasia MESH:C535826 MESH:D004392|MESH:D006330|MESH:D006554 C05.116.099.343/C535826|C14.240.400/C535826|C14.280.400/C535826|C16.131.240.400/C535826|C16.320.240/C535826|C16.614.378/C535826|C19.297/C535826|C23.300.707.374.937.500/C535826 C05.116.099.343|C14.240.400|C14.280.400|C16.131.240.400|C16.320.240|C16.614.378|C19.297|C23.300.707.374.937.500 Pseudodiastrophic dwarfism Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease|Pathology (anatomical condition) pseudofolliculitis barbae MESH:C563016 OMIM:612318 MESH:D005499 C17.800.329.500/C563016 C17.800.329.500 ingrown hairs|PFB|pili incarnati|razor bumps Skin disease Pseudohermaphroditism, Female, with Skeletal Anomalies MESH:C564869 MESH:D058489 C12.050.351.875.253.064/C564869|C12.200.706.316.064/C564869|C12.800.316.064/C564869|C16.131.939.316.064/C564869|C19.391.119.064/C564869 C12.050.351.875.253.064|C12.200.706.316.064|C12.800.316.064|C16.131.939.316.064|C19.391.119.064 Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Pseudohyperkalemia Cardiff MESH:C535827 OMIM:185020 MESH:D006947 C18.452.950.396/C535827 C18.452.950.396 CHC|Cryohydrocytosis|Stomatocytosis, cold-sensitive Metabolic disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak MESH:C563785 OMIM:609153 MESH:D006947 C18.452.950.396/C563785 C18.452.950.396 CRYOHYDROCYTOSIS, MILD|PSEUDOHYPERKALEMIA CARDIFF|PSEUDOHYPERKALEMIA CHISWICK|PSEUDOHYPERKALEMIA EAST LONDON|PSEUDOHYPERKALEMIA FALKIRK|Pseudohyperkalemia Lille|PSHK2 Metabolic disease Pseudohypoaldosteronism MESH:D011546 DO:DOID:0060854|DO:DOID:0060855|DO:DOID:4479|OMIM:145260|OMIM:177735|OMIM:264350|OMIM:603233|OMIM:612462 A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION. MESH:D015499 C12.050.351.968.419.815.770|C12.200.777.419.815.770|C12.950.419.815.770|C16.320.831.770 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.831 Familial Hyperpotassemia and Hypertension|Familial Hypertensive Hyperkalemia|Familial Hypertensive Hyperkalemias|Gordon Hyperkalemia Hypertension Syndrome|Gordon Hyperkalemia-Hypertension Syndrome|Hyperkalemia, Familial Hypertensive|Hyperkalemia-Hypertension Syndrome, Gordon|Hyperkalemias, Familial Hypertensive|Hyperpotassemia and Hypertension, Familial|Hypertensive Hyperkalemia, Familial|Hypertensive Hyperkalemias, Familial|PHA1A|PHA1B|PHA1B1|PHA2A|PHA I, AUTOSOMAL DOMINANT|PHA I, AUTOSOMAL RECESSIVE|PHP1B|PHP1C|PHP IB|PHP IC|Pseudohypoaldosteronisms|Pseudohypoaldosteronisms, Type I|Pseudohypoaldosteronisms, Type II|Pseudohypoaldosteronism Type 1|Pseudohypoaldosteronism Type 1, Autosomal Dominant|Pseudohypoaldosteronism Type 1, Autosomal Recessive|Pseudohypoaldosteronism Type 1s|Pseudohypoaldosteronism Type 2|Pseudohypoaldosteronism Type 2s|Pseudohypoaldosteronism Type I|Pseudohypoaldosteronism, Type I|Pseudohypoaldosteronism, Type I, Autosomal Dominant|Pseudohypoaldosteronism, Type I, Autosomal Recessive|PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE|Pseudohypoaldosteronism Type II|Pseudohypoaldosteronism, Type II|PSEUDOHYPOALDOSTERONISM, TYPE IIA|Pseudohypoaldosteronism Type IIs|Pseudohypoaldosteronism Type Is|PSEUDOHYPOPARATHYROIDISM, TYPE IB|PSEUDOHYPOPARATHYROIDISM, TYPE IC|Syndrome, Gordon Hyperkalemia-Hypertension|Type 1, Pseudohypoaldosteronism|Type II Pseudohypoaldosteronism|Type II, Pseudohypoaldosteronism|Type II Pseudohypoaldosteronisms|Type IIs, Pseudohypoaldosteronism|Type I Pseudohypoaldosteronism|Type I, Pseudohypoaldosteronism|Type Is, Pseudohypoaldosteronism Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Pseudohypoaldosteronism, Type IIa MESH:C564160 MESH:D011546 C12.050.351.968.419.815.770/C564160|C12.200.777.419.815.770/C564160|C12.950.419.815.770/C564160|C16.320.831.770/C564160 C12.050.351.968.419.815.770|C12.200.777.419.815.770|C12.950.419.815.770|C16.320.831.770 Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Pseudohypoaldosteronism, Type IIb MESH:C564161 OMIM:614491 MESH:D011546 C12.050.351.968.419.815.770/C564161|C12.200.777.419.815.770/C564161|C12.950.419.815.770/C564161|C16.320.831.770/C564161 C12.050.351.968.419.815.770|C12.200.777.419.815.770|C12.950.419.815.770|C16.320.831.770 PHA2B Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Pseudohypoaldosteronism, Type IIc MESH:C564162 OMIM:614492 MESH:D011546 C12.050.351.968.419.815.770/C564162|C12.200.777.419.815.770/C564162|C12.950.419.815.770/C564162|C16.320.831.770/C564162 C12.050.351.968.419.815.770|C12.200.777.419.815.770|C12.950.419.815.770|C16.320.831.770 PHA2C Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) PSEUDOHYPOALDOSTERONISM, TYPE IID OMIM:614495 MESH:D011546 C12.050.351.968.419.815.770/614495|C12.200.777.419.815.770/614495|C12.950.419.815.770/614495|C16.320.831.770/614495 C12.050.351.968.419.815.770|C12.200.777.419.815.770|C12.950.419.815.770|C16.320.831.770 FAMILIAL HYPERKALEMIC HYPERTENSION|FHHT|PHA2D Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) PSEUDOHYPOALDOSTERONISM, TYPE IIE OMIM:614496 MESH:D011546 C12.050.351.968.419.815.770/614496|C12.200.777.419.815.770/614496|C12.950.419.815.770/614496|C16.320.831.770/614496 C12.050.351.968.419.815.770|C12.200.777.419.815.770|C12.950.419.815.770|C16.320.831.770 PHA2E Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Pseudohypoparathyroidism MESH:D011547 DO:DOID:4184|OMIM:103580 A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN. MESH:D001851|MESH:D002128|MESH:D008664 C05.116.198.709|C16.320.565.618.815|C18.452.104.709|C18.452.174.766|C18.452.648.618.815 C05.116.198|C16.320.565.618|C18.452.104|C18.452.174|C18.452.648.618 Albright Hereditary Osteodystrophy|Albright Hereditary Osteodystrophy with Multiple Hormone Resistance|Hereditary Osteodystrophy, Albright|Osteodystrophy, Albright Hereditary|PHD1b|PHD Ib|PHP1A|PHP Ia|PHPIa|Pseudohypoparathyroidisms|Pseudohypoparathyroidisms, Type Ia|Pseudohypoparathyroidisms, Type Ib|Pseudohypoparathyroidism, Type Ia|Pseudohypoparathyroidism, Type Ib|Type Ia Pseudohypoparathyroidism|Type Ia Pseudohypoparathyroidisms|Type Ib Pseudohypoparathyroidism|Type Ib Pseudohypoparathyroidisms Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Pseudohypoparathyroidism Type 1B MESH:C548075 DO:DOID:0080222 MESH:D011547 C05.116.198.709/C548075|C16.320.565.618.815/C548075|C18.452.104.709/C548075|C18.452.174.766/C548075|C18.452.648.618.815/C548075 C05.116.198.709|C16.320.565.618.815|C18.452.104.709|C18.452.174.766|C18.452.648.618.815 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Pseudohypoparathyroidism Type 1C MESH:C548076 MESH:D011547 C05.116.198.709/C548076|C16.320.565.618.815/C548076|C18.452.104.709/C548076|C18.452.174.766/C548076|C18.452.648.618.815/C548076 C05.116.198.709|C16.320.565.618.815|C18.452.104.709|C18.452.174.766|C18.452.648.618.815 Php1c|Php Ic|Pseudohypoparathyroidism, Type Ic Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Pseudohypoparathyroidism Type 2 MESH:C548077 MESH:D011547 C05.116.198.709/C548077|C16.320.565.618.815/C548077|C18.452.104.709/C548077|C18.452.174.766/C548077|C18.452.648.618.815/C548077 C05.116.198.709|C16.320.565.618.815|C18.452.104.709|C18.452.174.766|C18.452.648.618.815 Php2|Php Ii|Pseudohypoparathyroidism, Type Ii Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Pseudoinflammatory fundus dystrophy, Finnish type MESH:C535828 MESH:D003317 C11.204.236/C535828|C11.270.162/C535828|C16.320.290.162/C535828 C11.204.236|C11.270.162|C16.320.290.162 Fundus dystrophy, pseudoinflammatory recessive form|Fundus Dystrophy, Pseudoinflammatory, Recessive Form|Pseudoinflammatory fundus dystrophy|Pseudoinflammatory fundus dystrophy, Lavia type Eye disease|Genetic disease (inborn) Pseudolymphoma MESH:D019310 A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed) MESH:D008206 C15.604.613 C15.604 Hyperplasia, Reactive Lymphoid|Hyperplasias, Reactive Lymphoid|Lymphocytoma|Lymphocytomas|Lymphoid Hyperplasia, Reactive|Lymphoid Hyperplasias, Reactive|Pseudolymphomas|Reactive Lymphoid Hyperplasia|Reactive Lymphoid Hyperplasias Lymphatic disease Pseudomonas Infections MESH:D011552 Infections with bacteria of the genus PSEUDOMONAS. MESH:D016905 C01.150.252.400.739 C01.150.252.400 Infection, Pseudomonas|Infections, Pseudomonas|Pseudomonas aeruginosa Infection|Pseudomonas aeruginosa Infections|Pseudomonas Infection Bacterial infection or mycosis Pseudomonilethrix MESH:C562988 MESH:D006201 C17.800.329/C562988 C17.800.329 Skin disease Pseudomyxoma Peritonei MESH:D011553 DO:DOID:3559 A peritoneal adenocarcinoma characterized by build-up of MUCUS in the PERITONEAL CAVITY. Mucus secreting cells may attach to the peritoneal lining and continue to secrete mucus. The majority of cases represent tumor spread from a primary low-grade mucinous neoplasm of the APPENDIX (NCI Thesaurus). MESH:D002288 C04.557.470.200.025.075.500|C04.557.470.590.075.500 C04.557.470.200.025.075|C04.557.470.590.075 Ascites, Gelatinous|Gelatinous Ascites|Pseudomyxoma Peritonei Syndrome|Pseudomyxoma Peritonei Syndromes|Syndrome of Pseudomyxoma Peritonei Cancer Pseudopapilledema MESH:C562401 DO:DOID:1392 MESH:D009901|MESH:D015785 C10.292.700/C562401|C11.270/C562401|C11.640/C562401|C16.320.290/C562401 C10.292.700|C11.270|C11.640|C16.320.290 Eye disease|Genetic disease (inborn)|Nervous system disease Pseudophakia MESH:D019591 Presence of an intraocular lens after cataract extraction. MESH:D012816 C23.888.681 C23.888 Signs and symptoms Pseudopseudohypoparathyroidism MESH:D011556 DO:DOID:4183|OMIM:612463 A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is associated with paternally inherited mutant alleles of the ALPHA CHAIN OF STIMULATORY G PROTEIN. MESH:D011547 C05.116.198.709.628|C16.320.565.618.815.815|C18.452.104.709.628|C18.452.174.766.815|C18.452.648.618.815.815 C05.116.198.709|C16.320.565.618.815|C18.452.104.709|C18.452.174.766|C18.452.648.618.815 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance|PPHP|Pseudopseudo Hypoparathyroidism|Pseudopseudo-Hypoparathyroidism|Pseudo Pseudohypoparathyroidism|Pseudo-Pseudohypoparathyroidism|Pseudopseudohypoparathyroidisms|Pseudopseudo-Hypoparathyroidisms|Pseudo-Pseudohypoparathyroidisms Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Pseudorabies MESH:D011557 A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals. MESH:D000820|MESH:D006566|MESH:D020805 C01.207.245.710|C01.925.182.710|C01.925.256.466.793|C10.228.228.245.710|C22.742 C01.207.245|C01.925.182|C01.925.256.466|C10.228.228.245|C22 Aujeszky Disease|Aujeszky's Disease|Aujeszkys Disease Animal disease|Nervous system disease|Viral disease PSEUDO-TORCH SYNDROME 1 OMIM:251290 DO:DOID:0050656 MESH:C535607|MESH:D002114|MESH:D002658|MESH:D008831|MESH:D054220 C05.660.207.620/251290|C10.114/C535607/251290|C10.500.507/251290|C10.500.507.400.500/251290|C10.500/C535607/251290|C16.131.621.207.620/251290|C16.131.666.507/251290|C16.131.666.507.400.500/251290|C16.131.666/C535607/251290|C18.452.174.130/251290|C20.111.258/C535607/251290|F03.625.421/251290 C05.660.207.620|C10.114/C535607|C10.500.507|C10.500.507.400.500|C10.500/C535607|C16.131.621.207.620|C16.131.666.507|C16.131.666.507.400.500|C16.131.666/C535607|C18.452.174.130|C20.111.258/C535607|F03.625.421 BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA|BLCPMG|PSEUDO-TORCH SYNDROME|PTORCH1 Congenital abnormality|Immune system disease|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease Pseudotrisomy 13 syndrome MESH:C535829 MESH:D005320|MESH:D006228|MESH:D014314|MESH:D016142|MESH:D017689 C05.390.408/C535829|C05.660.207.410/C535829|C05.660.585.600/C535829|C05.660.585.988.425/C535829|C10.500.034.875/C535829|C12.050.703.170.500/C535829|C12.050.703.277.570/C535829|C12.050.703.726.570/C535829|C16.131.077.410/C535829|C16.131.260.380/C535829|C16.131.621.207.410/C535829|C16.131.621.585.600/C535829|C16.131.621.585.988.500/C535829|C16.131.666.034.875/C535829|C16.300.570/C535829|C16.320.180.380/C535829|C19.246.099.968/C535829|C23.550.210.050.750/C535829|C23.550.210.182.500/C535829|C23.888.144.186.500/C535829 C05.390.408|C05.660.207.410|C05.660.585.600|C05.660.585.988.425|C10.500.034.875|C12.050.703.170.500|C12.050.703.277.570|C12.050.703.726.570|C16.131.077.410|C16.131.260.380|C16.131.621.207.410|C16.131.621.585.600|C16.131.621.585.988.500|C16.131.666.034.875|C16.300.570|C16.320.180.380|C19.246.099.968|C23.550.210.050.750|C23.550.210.182.500|C23.888.144.186.500 Holoprosencephaly polydactyly syndrome|Holoprosencephaly-Polydactyly Syndrome|Pseudo trisomy 13 syndrome Congenital abnormality|Endocrine system disease|Fetal disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Pregnancy complication|Signs and symptoms Pseudotumor Cerebri MESH:D011559 DO:DOID:11459 A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS). MESH:D019586 C10.228.140.631.750 C10.228.140.631 Benign Intracranial Hypertension|Hypertension, Benign Intracranial|Hypertension, Idiopathic Intracranial|Idiopathic Intracranial Hypertension|Intracranial Hypertension, Benign|Intracranial Hypertension, Idiopathic Nervous system disease Pseudouridinuria and Mental Defect MESH:C564864 MESH:D008607|MESH:D011686 C10.597.606.360/C564864|C16.320.565.798/C564864|C18.452.648.798/C564864|C23.888.592.604.646/C564864|F03.625.539/C564864 C10.597.606.360|C16.320.565.798|C18.452.648.798|C23.888.592.604.646|F03.625.539 Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Pseudovaginal Perineoscrotal Hypospadias MESH:C535830 OMIM:264600 MESH:D007021|MESH:D043202|MESH:D058490 C12.050.351.875.253.096/C535830|C12.050.351.875.466/C535830|C12.100.500.494.400/C535830|C12.200.294.494.400/C535830|C12.200.706.316.096/C535830|C12.200.706.516/C535830|C12.800.316.096/C535830|C12.800.516/C535830|C16.131.939.316.096/C535830|C16.131.939.516/C535830|C16.320.565.925/C535830|C18.452.648.925/C535830|C19.391.119.096/C535830 C12.050.351.875.253.096|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.316.096|C12.200.706.516|C12.800.316.096|C12.800.516|C16.131.939.316.096|C16.131.939.516|C16.320.565.925|C18.452.648.925|C19.391.119.096 5-Alpha Reductase Deficiency|Familial Incomplete Male Pseudohermaphroditism, Type 2|FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2 MICROPENIS, INCLUDED|Male Pseudohermaphroditism due to 5-Alpha-Reductase Deficiency|PPSH|Steroid 5-Alpha-Reductase Deficiency Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Pseudoxanthoma Elasticum MESH:D011561 DO:DOID:2738|OMIM:177850|OMIM:264800 An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE. MESH:D003240|MESH:D012868|MESH:D012873|MESH:D020141 C14.907.454.530|C15.378.463.515.530|C16.131.831.766|C16.320.850.750|C17.300.766|C17.800.804.766|C17.800.827.750 C14.907.454|C15.378.463.515|C16.131.831|C16.320.850|C17.300|C17.800.804|C17.800.827 Elasticum, Incomplete Pseudoxanthoma|Elasticums, Incomplete Pseudoxanthoma|Groenblad-Strandberg Syndrome|Gronblad Strandberg Syndrome|Gronblad-Strandberg Syndrome|GRONBLAD-STRANDBERG SYNDROME PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF, INCLUDED|Incomplete Pseudoxanthoma Elasticum|Incomplete Pseudoxanthoma Elasticums|Pseudoxanthoma Elasticum, Autosomal Dominant|Pseudoxanthoma Elasticum, Forme Fruste|PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED|Pseudoxanthoma Elasticum, Incomplete|Pseudoxanthoma Elasticums, Incomplete|PXE|PXE, MODIFIER OF SEVERITY OF, INCLUDED|Syndrome, Gronblad-Strandberg Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Pseudoxanthoma Elasticum, Heterozygous MESH:C566744 MESH:D011561 C14.907.454.530/C566744|C15.378.463.515.530/C566744|C16.131.831.766/C566744|C16.320.850.750/C566744|C17.300.766/C566744|C17.800.804.766/C566744|C17.800.827.750/C566744 C14.907.454.530|C15.378.463.515.530|C16.131.831.766|C16.320.850.750|C17.300.766|C17.800.804.766|C17.800.827.750 Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency MESH:C563654 OMIM:610842 MESH:D011561|MESH:D020147 C14.907.454.530/C563654|C15.378.100.141/C563654|C15.378.463.515.530/C563654|C16.131.831.766/C563654|C16.320.850.750/C563654|C17.300.766/C563654|C17.800.804.766/C563654|C17.800.827.750/C563654 C14.907.454.530|C15.378.100.141|C15.378.463.515.530|C16.131.831.766|C16.320.850.750|C17.300.766|C17.800.804.766|C17.800.827.750 PXE-Like Disorder with Multiple Coagulation Factor Deficiency Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Pseudo-Zellweger syndrome MESH:C535818 DO:DOID:14723 MESH:D015211 C06.552.970/C535818|C10.228.140.163.100.968/C535818|C12.050.351.968.419.978/C535818|C12.200.777.419.978/C535818|C12.950.419.978/C535818|C16.131.077.970/C535818|C16.320.565.189.968/C535818|C16.320.565.663.970/C535818|C18.452.132.100.968/C535818|C18.452.648.189.968/C535818|C18.452.648.663.970/C535818 C06.552.970|C10.228.140.163.100.968|C12.050.351.968.419.978|C12.200.777.419.978|C12.950.419.978|C16.131.077.970|C16.320.565.189.968|C16.320.565.663.970|C18.452.132.100.968|C18.452.648.189.968|C18.452.648.663.970 Pseudo Zellweger syndrome leukodystrophy Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Psittacosis MESH:D009956 DO:DOID:11262 Infection with CHLAMYDOPHILA PSITTACI (formerly Chlamydia psittaci), transmitted to humans by inhalation of dust-borne contaminated nasal secretions or excreta of infected BIRDS. This infection results in a febrile illness characterized by PNEUMONITIS and systemic manifestations. MESH:D023521 C01.150.252.400.210.250.600 C01.150.252.400.210.250 Ornithoses|Ornithosis|Psittacoses Bacterial infection or mycosis Psoas Abscess MESH:D016659 Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal. MESH:D000038 C01.830.025.700 C01.830.025 Abscesses, Iliopsoas|Abscesses, Psoas|Abscesses, Pyogenic Iliopsoas|Abscess, Iliopsoas|Abscess, Psoas|Abscess, Pyogenic Iliopsoas|Iliopsoas Abscess|Iliopsoas Abscesses|Iliopsoas Abscesses, Pyogenic|Iliopsoas Abscess, Pyogenic|Psoas Abscesses|Pyogenic Iliopsoas Abscess|Pyogenic Iliopsoas Abscesses Psoriasis MESH:D011565 DO:DOID:4398|DO:DOID:8893|OMIM:177900|OMIM:601454|OMIM:602723|OMIM:603935|OMIM:604316|OMIM:605364|OMIM:605606|OMIM:607857|OMIM:610707|OMIM:612410|OMIM:612599|OMIM:612950|OMIM:614070|OMIM:614204|OMIM:616106 A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis. MESH:D017444 C17.800.859.675 C17.800.859 ACRODERMATITIS CONTINUA OF HALLOPEAU|DITRA|GENERALIZED PUSTULAR PSORIASIS|GPP|INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY|Palmoplantaris Pustulosis|PALMOPLANTAR PUSTULOSIS|Psoriases|PSORIASIS 10, SUSCEPTIBILITY TO|PSORIASIS 11, SUSCEPTIBILITY TO|PSORIASIS 12, SUSCEPTIBILITY TO|PSORIASIS 13, SUSCEPTIBILITY TO|PSORIASIS 14, PUSTULAR|PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO|PSORIASIS 1, SUSCEPTIBILITY TO|PSORIASIS 2|PSORIASIS 3, SUSCEPTIBILITY TO|PSORIASIS 4, SUSCEPTIBILITY TO|PSORIASIS 5, SUSCEPTIBILITY TO|PSORIASIS 6, SUSCEPTIBILITY TO|PSORIASIS 7, SUSCEPTIBILITY TO|PSORIASIS 8, SUSCEPTIBILITY TO|PSORIASIS 9, SUSCEPTIBILITY TO|PSORP|PSORS1|PSORS10|PSORS11|PSORS12|PSORS13|PSORS14|PSORS15|PSORS2|PSORS3|PSORS4|PSORS5|PSORS6|PSORS7|PSORS8|PSORS9|Pustular Psoriasis of Palms and Soles|Pustulosis of Palms and Soles|Pustulosis Palmaris et Plantaris Skin disease Psychogenic Nonepileptic Seizures MESH:D000091323 Seizures caused by psychological factors without electrophysiological epileptic changes. MESH:D012640 C10.597.742.357|C23.888.592.742.357 C10.597.742|C23.888.592.742 Dissociative Seizure|Dissociative Seizures|Nonepileptic Seizure, Psychogenic|Psychogenic Nonepileptic Seizure|Psychogenic Pseudoseizure|Psychogenic Pseudoseizures|Seizure, Dissociative|Seizure, Psychogenic Nonepileptic Nervous system disease|Signs and symptoms psychogenic syncope MESH:C000726809 MESH:D003291|MESH:D013575 C10.597.606.358.800.600/C000726809|C23.888.592.604.359.800.600/C000726809|F03.875.300/C000726809 C10.597.606.358.800.600|C23.888.592.604.359.800.600|F03.875.300 syncope, psychogenic Mental disorder|Nervous system disease|Signs and symptoms Psychological Trauma MESH:D000067073 An emotionally painful, shocking, stressful, and sometimes life-threatening experience. It can result from witnessing distressing events such as natural disasters, physical or sexual abuse, and terrorism or other acts of violence. (https://www.nimh.nih.gov/health/) MESH:D040921 F03.950.750.375 F03.950.750 Trauma, Psychological Mental disorder Psychomotor Agitation MESH:D011595 A feeling of restlessness associated with increased motor activity. This may occur as a manifestation of nervous system drug toxicity or other conditions. MESH:D011596|MESH:D020820 C10.597.350.600|C10.597.606.881.700|C23.888.592.350.600|C23.888.592.604.882.700 C10.597.350|C10.597.606.881|C23.888.592.350|C23.888.592.604.882 Agitation, Psychomotor|Akathisia|Excitement, Psychomotor|Hyperactivity, Psychomotor|Psychomotor Excitement|Psychomotor Hyperactivity|Psychomotor Restlessness|Restlessness|Restlessness, Psychomotor Nervous system disease|Signs and symptoms Psychomotor Disorders MESH:D011596 Abnormalities of motor function that are associated with organic and non-organic cognitive disorders. MESH:D019954 C10.597.606.881|C23.888.592.604.882 C10.597.606|C23.888.592.604 Developmental Psychomotor Disorder|Developmental Psychomotor Disorders|Impairment, Psychomotor|Impairments, Psychomotor|Psychomotor Disorder, Developmental|Psychomotor Disorders, Developmental|Psychomotor Impairment|Psychomotor Impairments Nervous system disease|Signs and symptoms Psychophysiologic Disorders MESH:D011602 A group of disorders characterized by physical symptoms that are affected by emotional factors and involve a single organ system, usually under AUTONOMIC NERVOUS SYSTEM control. (American Psychiatric Glossary, 1988) MESH:D009461 C23.888.592.700 C23.888.592 Psychophysiological Disorder|Psychophysiological Disorders|Psychophysiologic Disorder|Psychosomatic Disorder|Psychosomatic Disorders Signs and symptoms Psychoses, Alcoholic MESH:D011604 DO:DOID:252 A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol. MESH:D011605|MESH:D019973|MESH:D020751 C25.723.809.750|C25.775.100.087.750|F03.700.675.600.750|F03.900.100.750 C25.723.809|C25.775.100.087|F03.700.675.600|F03.900.100 Alcoholic Psychoses Mental disorder|Substance-related disorder Psychoses, Substance-Induced MESH:D011605 DO:DOID:1742 Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance. MESH:D011041|MESH:D011618|MESH:D019966 C25.723.809|C25.775.746|F03.700.675.600|F03.900.746 C25.723|C25.775|F03.700.675|F03.900 Drug Psychoses|Psychoses, Drug|Psychoses, Substance Induced|Psychoses, Toxic|Substance Induced Psychoses|Substance-Induced Psychoses|Toxic Psychoses Mental disorder|Substance-related disorder Psychotic Disorders MESH:D011618 DO:DOID:11328|DO:DOID:5418 Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994) MESH:D019967 F03.700.675 F03.700 Brief Reactive Psychoses|Brief Reactive Psychosis|Disorder, Psychotic|Disorder, Schizoaffective|Disorder, Schizophreniform|Disorders, Psychotic|Disorders, Schizoaffective|Disorders, Schizophreniform|Psychoses|Psychoses, Brief Reactive|Psychosis|Psychosis, Brief Reactive|Psychotic Disorder|Reactive Psychoses, Brief|Reactive Psychosis, Brief|Schizoaffective Disorder|Schizoaffective Disorders|Schizophreniform Disorder|Schizophreniform Disorders Mental disorder Pten Hamartoma Tumor Syndrome With Granular Cell Tumor MESH:C566636 MESH:D006223 C04.445.435/C566636|C04.651.435/C566636|C04.700.435/C566636|C16.320.700.435/C566636 C04.445.435|C04.651.435|C04.700.435|C16.320.700.435 Cancer|Genetic disease (inborn) Pterygium MESH:D011625 An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed) MESH:D003229 C11.187.781 C11.187 Pterygiums Eye disease Pterygium, Antecubital MESH:C566738 MESH:D009139 C05.660/C566738|C16.131.621/C566738 C05.660|C16.131.621 Congenital abnormality|Musculoskeletal disease Pterygium Colli, Isolated MESH:C566741 MESH:D012868 C16.131.831/C566741|C17.800.804/C566741 C16.131.831|C17.800.804 Ptergyium Colli Congenital abnormality|Skin disease Pterygium colli mental retardation digital anomalies MESH:C535831 MESH:D000015|MESH:D006228|MESH:D008607 C05.390.408/C535831|C05.660.585.988.425/C535831|C10.597.606.360/C535831|C16.131.077/C535831|C16.131.621.585.988.500/C535831|C23.888.592.604.646/C535831|F03.625.539/C535831 C05.390.408|C05.660.585.988.425|C10.597.606.360|C16.131.077|C16.131.621.585.988.500|C23.888.592.604.646|F03.625.539 Khalifa Graham syndrome|Pterygium colli and mental retardation with facial and digital anomalies Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Pterygium Of Conjunctiva And Cornea MESH:C566740 OMIM:178000 MESH:D011625 C11.187.781/C566740 C11.187.781 Eye disease Ptosis, Hereditary Congenital 1 MESH:C566737 OMIM:178300 MESH:D001763 C11.338.204/C566737 C11.338.204 PTOS1 Eye disease Ptosis, Hereditary Congenital 2 MESH:C564553 OMIM:300245 MESH:D001763|MESH:D040181 C11.338.204/C564553|C16.320.322/C564553 C11.338.204|C16.320.322 PTOS2|Ptosis, X-Linked|PTOSX Eye disease|Genetic disease (inborn) Ptosis, Strabismus, And Ectopic Pupils MESH:C566736 MESH:D001763|MESH:D011681|MESH:D013285 C10.292.562.887/C566736|C10.597.690/C566736|C11.338.204/C566736|C11.590.810/C566736|C11.710/C566736|C23.888.592.708/C566736 C10.292.562.887|C10.597.690|C11.338.204|C11.590.810|C11.710|C23.888.592.708 Eye disease|Nervous system disease|Signs and symptoms Puberty, Delayed MESH:D011628 The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not. MESH:D006058 C19.391.690 C19.391 Delayed Puberty Endocrine system disease Puberty, Precocious MESH:D011629 DO:DOID:0111545|DO:DOID:0112308|OMIM:176400|OMIM:615346 Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE. MESH:D006058 C19.391.693 C19.391 Central Precocious Puberties|Central Precocious Puberty|CPPB1|CPPB2|Familial Precocious Puberties|Familial Precocious Puberty|Idiopathic Sexual Precocities|Idiopathic Sexual Precocity|Male-Limited Precocious Puberties|Male-Limited Precocious Puberty|Praecox, Pubertas|Precocious Puberties|Precocious Puberties, Central|Precocious Puberties, Familial|Precocious Puberties, Male-Limited|Precocious Puberty|Precocious Puberty, Central|PRECOCIOUS PUBERTY, CENTRAL, 1|PRECOCIOUS PUBERTY, CENTRAL, 2|Precocious Puberty, Familial|Precocious Puberty, Male Limited|Precocious Puberty, Male-Limited|Precocities, Idiopathic Sexual|Precocities, Sexual|Precocity, Idiopathic Sexual|Precocity, Sexual|Pubertas Praecox|Puberties, Central Precocious|Puberties, Familial Precocious|Puberties, Male-Limited Precocious|Puberties, Precocious|Puberty, Central Precocious|Puberty, Familial Precocious|Puberty, Male-Limited Precocious|Sexual Precocities|Sexual Precocities, Idiopathic|Sexual Precocity|Sexual Precocity, Idiopathic|Testotoxicosis Endocrine system disease Pubic Bone Dysplasia MESH:C566735 MESH:D010009 C05.116.099.708/C566735|C16.320.728/C566735 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Pubic Symphysis Diastasis MESH:D046548 Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes. MESH:D000070631|MESH:D011644 C05.550.518.192.500|C12.050.703.844.728|C26.289.192.500 C05.550.518.192|C12.050.703.844|C26.289.192 Diastases, Pubic Symphysis|Diastases, Symphysis Pubis|Diastasis, Pubic Symphysis|Diastasis Symphysis Pubis|Diastasis, Symphysis Pubis|Pubic Symphysis Diastases|Symphysis Pubis Diastases|Symphysis Pubis Diastasis|Symphysis Pubis, Diastasis Musculoskeletal disease|Pregnancy complication|Wounds and injuries Pudendal Neuralgia MESH:D060545 Pain associated with a damaged PUDENDAL NERVE. Clinical features may include positional pain with sitting in the perineal and genital areas, sexual dysfunction and FECAL INCONTINENCE and URINARY INCONTINENCE. MESH:D009408|MESH:D009437 C10.668.829.550.650|C10.668.829.600.737|C23.888.592.612.664.737 C10.668.829.550|C10.668.829.600|C23.888.592.612.664 Entrapment, Pudendal Nerve|Entrapments, Pudendal Nerve|Nerve Entrapment, Pudendal|Nerve Entrapments, Pudendal|Neuralgia, Pudendal|Neuralgias, Pudendal|Neuropathies, Pudendal|Neuropathy, Pudendal|Pudendal Canal Entrapment Syndrome|Pudendal Nerve Entrapment|Pudendal Nerve Entrapments|Pudendal Nerve Entrapment Syndrome|Pudendal Neuralgias|Pudendal Neuropathies|Pudendal Neuropathy Nervous system disease|Signs and symptoms Puerperal Disorders MESH:D011644 Disorders or diseases associated with PUERPERIUM, the six-to-eight-week period immediately after PARTURITION in humans. MESH:D011248 C12.050.703.844 C12.050.703 Disorder, Puerperal|Disorders, Puerperal|Puerperal Disorder Pregnancy complication Puerperal Infection MESH:D011645 An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth. MESH:D011251|MESH:D011644 C01.674.715|C12.050.703.700.715|C12.050.703.844.757 C01.674|C12.050.703.700|C12.050.703.844 Infection, Puerperal|Infections, Puerperal|Postpartum Sepses|Postpartum Sepsis|Puerperal Infections|Sepses, Postpartum|Sepsis, Postpartum Pregnancy complication Pulmonary Adenomatosis, Ovine MESH:D011648 A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by JAAGSIEKTE SHEEP RETROVIRUS. MESH:D000230|MESH:D012192|MESH:D012757|MESH:D014412 C01.925.782.815.725|C01.925.928.740|C04.557.470.200.025.715|C22.836.715 C01.925.782.815|C01.925.928|C04.557.470.200.025|C22.836 Adenomatoses, Ovine Pulmonary|Adenomatoses, Pulmonary Ovine|Adenomatosis, Ovine Pulmonary|Adenomatosis, Pulmonary Ovine|Adenomatosis, Pulmonary, Ovine|Carcinoma, Ovine Pulmonary|Carcinomas, Ovine Pulmonary|Jaagsiekte|Ovine Adenomatoses, Pulmonary|Ovine Adenomatosis, Pulmonary|Ovine Pulmonary Adenomatoses|Ovine Pulmonary Adenomatosis|Ovine Pulmonary Carcinoma|Ovine Pulmonary Carcinomas|Pulmonary Adenomatoses, Ovine|Pulmonary Carcinoma, Ovine|Pulmonary Carcinomas, Ovine|Pulmonary Ovine Adenomatoses|Pulmonary Ovine Adenomatosis Animal disease|Cancer|Viral disease Pulmonary Alveolar Microlithiasis MESH:C562405 DO:DOID:12117|OMIM:265100 MESH:D002114|MESH:D008171|MESH:D030342 C08.381/C562405|C16.320/C562405|C18.452.174.130/C562405 C08.381|C16.320|C18.452.174.130 PULAM Genetic disease (inborn)|Metabolic disease|Respiratory tract disease Pulmonary Alveolar Proteinosis MESH:D011649 DO:DOID:12120 A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR. MESH:D008171 C08.381.719 C08.381 Alveolar Proteinoses, Pulmonary|Alveolar Proteinosis, Pulmonary|Proteinoses, Pulmonary Alveolar|Proteinosis, Pulmonary Alveolar|Pulmonary Alveolar Proteinoses Respiratory tract disease Pulmonary Alveolar Proteinosis, Acquired MESH:C567049 MESH:D001327|MESH:D011649 C08.381.719/C567049|C20.111/C567049 C08.381.719|C20.111 Pulmonary Alveolar Lipoproteinosis, Acquired|Pulmonary Alveolar Proteinosis, Autoimmune Immune system disease|Respiratory tract disease Pulmonary alveolar proteinosis, congenital MESH:C535832 MESH:D011649 C08.381.719/C535832 C08.381.719 Congenital pulmonary alveolar proteinosis Respiratory tract disease Pulmonary Arterial Hypertension MESH:D000081029 A progressive rare pulmonary disease characterized by high blood pressure in the PULMONARY ARTERY. MESH:D006976 C08.381.423.847 C08.381.423 Arterial Hypertension, Pulmonary|Hypertension, Pulmonary Arterial Respiratory tract disease Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related MESH:C563358 MESH:D000081029|MESH:D013684 C08.381.423.847/C563358|C14.907.823/C563358 C08.381.423.847|C14.907.823 Hereditary Hemorrhagic Telangiectasia-Related Pulmonary Arterial Hypertension Cardiovascular disease|Respiratory tract disease Pulmonary Arteriovenous Fistulas MESH:C562404 MESH:D001164 C14.240.850.750.147/C562404|C14.240.850.984.750/C562404|C14.907.150.125/C562404|C14.907.933.555/C562404|C16.131.240.850.750.125/C562404|C23.300.575.950.250/C562404 C14.240.850.750.147|C14.240.850.984.750|C14.907.150.125|C14.907.933.555|C16.131.240.850.750.125|C23.300.575.950.250 Cardiovascular disease|Congenital abnormality|Pathology (anatomical condition) Pulmonary Aspergillosis MESH:D055732 Infections of the respiratory tract with fungi of the genus ASPERGILLUS. MESH:D001228|MESH:D008172 C01.150.703.080.768|C01.150.703.534.850|C08.381.472.850 C01.150.703.080|C01.150.703.534|C08.381.472 Aspergillose, Bronchopulmonary|Aspergilloses, Bronchopulmonary|Aspergilloses, Lung|Aspergillosis, Bronchopulmonary|Aspergillosis, Lung|Aspergillosis, Pulmonary|Bronchopulmonary Aspergillose|Bronchopulmonary Aspergilloses|Bronchopulmonary Aspergillosis|Lung Aspergillosis|Pulmonary Aspergilloses Bacterial infection or mycosis|Respiratory tract disease Pulmonary Atelectasis MESH:D001261 Absence of air in the entire or part of a lung, such as an incompletely inflated neonate lung or a collapsed adult lung. Pulmonary atelectasis can be caused by airway obstruction, lung compression, fibrotic contraction, or other factors. MESH:D008171 C08.381.730 C08.381 Atelectases|Atelectases, Compression|Atelectases, Compression Pulmonary|Atelectases, Congestive|Atelectases, Congestive Pulmonary|Atelectases, Contraction Pulmonary|Atelectases, Postoperative Pulmonary|Atelectases, Pulmonary|Atelectases, Resorption|Atelectases, Resorption Pulmonary|Atelectasis|Atelectasis, Compression|Atelectasis, Compression Pulmonary|Atelectasis, Congestive|Atelectasis, Congestive Pulmonary|Atelectasis, Contraction Pulmonary|Atelectasis, Postoperative Pulmonary|Atelectasis, Pulmonary|Atelectasis, Resorption|Atelectasis, Resorption Pulmonary|Collapse, Lung|Compression Atelectases|Compression Atelectasis|Compression Pulmonary Atelectases|Compression Pulmonary Atelectasis|Congestive Atelectases|Congestive Atelectasis|Congestive Pulmonary Atelectases|Congestive Pulmonary Atelectasis|Contraction Pulmonary Atelectases|Contraction Pulmonary Atelectasis|Lung Collapse|Postoperative Pulmonary Atelectases|Postoperative Pulmonary Atelectasis|Pulmonary Atelectases|Pulmonary Atelectases, Compression|Pulmonary Atelectases, Congestive|Pulmonary Atelectases, Contraction|Pulmonary Atelectases, Postoperative|Pulmonary Atelectases, Resorption|Pulmonary Atelectasis, Compression|Pulmonary Atelectasis, Congestive|Pulmonary Atelectasis, Contraction|Pulmonary Atelectasis, Postoperative|Pulmonary Atelectasis, Resorption|Resorption Atelectases|Resorption Atelectasis|Resorption Pulmonary Atelectases|Resorption Pulmonary Atelectasis Respiratory tract disease Pulmonary Atresia MESH:D018633 A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS). MESH:D006349|MESH:D054079 C14.240.850.937|C14.280.484.640|C16.131.240.850.906 C14.240.850|C14.280.484|C16.131.240.850 Atresia, Pulmonary|Atresia, Pulmonary Valve|Atresias, Pulmonary|Atresias, Pulmonary Valve|Pulmonary Atresias|Pulmonary Valve Atresia|Pulmonary Valve Atresias|Valve Atresia, Pulmonary|Valve Atresias, Pulmonary Cardiovascular disease|Congenital abnormality Pulmonary Atresia with Intact Ventricular Septum MESH:C562832 MESH:D006330|MESH:D018633 C14.240.400/C562832|C14.240.850.937/C562832|C14.280.400/C562832|C14.280.484.640/C562832|C16.131.240.400/C562832|C16.131.240.850.906/C562832 C14.240.400|C14.240.850.937|C14.280.400|C14.280.484.640|C16.131.240.400|C16.131.240.850.906 Cardiovascular disease|Congenital abnormality Pulmonary Atresia With Ventricular Septal Defect MESH:C562833 MESH:D006343|MESH:D018633 C14.240.400.560/C562833|C14.240.850.937/C562833|C14.280.400.560/C562833|C14.280.484.640/C562833|C16.131.240.400.560/C562833|C16.131.240.850.906/C562833 C14.240.400.560|C14.240.850.937|C14.280.400.560|C14.280.484.640|C16.131.240.400.560|C16.131.240.850.906 Cardiovascular disease|Congenital abnormality Pulmonary Blastoma MESH:D018202 DO:DOID:4765 A malignant neoplasm of the lung composed chiefly or entirely of immature undifferentiated cells (i.e., blast forms) with little or virtually no stroma. (From Stedman, 25th ed) MESH:D008175|MESH:D018193 C04.557.435.675|C04.588.894.797.520.867 C04.557.435|C04.588.894.797.520 Blastoma, Pulmonary|Blastomas, Pulmonary|Pulmonary Blastomas Cancer Pulmonary Bullae Causing Pneumothorax MESH:C564863 MESH:D001768|MESH:D011030 C08.528.778/C564863|C17.800.865.187/C564863|C23.300.122/C564863 C08.528.778|C17.800.865.187|C23.300.122 Pathology (anatomical condition)|Respiratory tract disease|Skin disease Pulmonary Disease, Chronic Obstructive MESH:D029424 DO:DOID:3083|OMIM:606963 A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA. MESH:D002908|MESH:D008173 C08.381.495.389|C23.550.291.500.875 C08.381.495|C23.550.291.500 Airflow Obstruction, Chronic|Airflow Obstructions, Chronic|Chronic Airflow Obstruction|Chronic Airflow Obstructions|Chronic Obstructive Airway Disease|Chronic Obstructive Lung Disease|Chronic Obstructive Pulmonary Disease|Chronic Obstructive Pulmonary Diseases|COAD|COPD|COPD, SEVERE EARLY-ONSET, INCLUDED|INCLUDED|PULMONARY DISEASE, CHRONIC OBSTRUCTIVE;COPD PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET,|PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN, INCLUDED Pathology (process)|Respiratory tract disease Pulmonary Disease, Chronic Obstructive, Severe Early-Onset MESH:C564641 MESH:D029424 C08.381.495.389/C564641|C23.550.291.500.875/C564641 C08.381.495.389|C23.550.291.500.875 COPD, Severe Early-Onset Pathology (process)|Respiratory tract disease Pulmonary Edema MESH:D011654 DO:DOID:11396 Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening. MESH:D008171 C08.381.742 C08.381 Edema, Pulmonary|Edemas, Pulmonary|Lungs, Wet|Lung, Wet|Pulmonary Edemas|Wet Lung|Wet Lungs Respiratory tract disease Pulmonary edema of mountaineers MESH:C535833 MESH:D000532|MESH:D006976 C08.381.423/C535833|C08.618.020/C535833|C14.907.489.556/C535833 C08.381.423|C08.618.020|C14.907.489.556 High altitude pulmonary hypertension Cardiovascular disease|Respiratory tract disease Pulmonary Embolism MESH:D011655 DO:DOID:9477 Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS. MESH:D004617|MESH:D008171 C08.381.746|C14.907.355.350.700 C08.381|C14.907.355.350 Embolism, Pulmonary|Embolisms, Pulmonary|Pulmonary Embolisms|Pulmonary Thromboembolism|Pulmonary Thromboembolisms|Thromboembolism, Pulmonary|Thromboembolisms, Pulmonary Cardiovascular disease|Respiratory tract disease Pulmonary Emphysema MESH:D011656 Enlargement of air spaces distal to the TERMINAL BRONCHIOLES where gas-exchange normally takes place. This is usually due to destruction of the alveolar wall. Pulmonary emphysema can be classified by the location and distribution of the lesions. MESH:D029424 C08.381.495.389.750|C23.550.291.500.875.875 C08.381.495.389|C23.550.291.500.875 Centriacinar Emphysema|Centriacinar Emphysemas|Centrilobular Emphysema|Centrilobular Emphysemas|Emphysema, Centriacinar|Emphysema, Centrilobular|Emphysema, Focal|Emphysema, Panacinar|Emphysema, Panlobular|Emphysema, Pulmonary|Emphysemas, Centriacinar|Emphysemas, Centrilobular|Emphysemas, Focal|Emphysemas, Panacinar|Emphysemas, Panlobular|Emphysemas, Pulmonary|Focal Emphysema|Focal Emphysemas|Panacinar Emphysema|Panacinar Emphysemas|Panlobular Emphysema|Panlobular Emphysemas|Pulmonary Emphysemas Pathology (process)|Respiratory tract disease Pulmonary Eosinophilia MESH:D011657 DO:DOID:5870|DO:DOID:9498|DO:DOID:9503 A condition characterized by infiltration of the lung with EOSINOPHILS due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents. MESH:D008171|MESH:D017681 C08.381.750|C15.378.553.231.549.750 C08.381|C15.378.553.231.549 Eosinophilia, Pulmonary|Eosinophilias, Pulmonary|Eosinophilic Pneumonia|Eosinophilic Pneumonias|Eosinophilic Pneumonias, Tropical|Eosinophilic Pneumonia, Tropical|Loeffler Syndrome|Pneumonia, Eosinophilic|Pneumonias, Eosinophilic|Pulmonary Eosinophilias|Pulmonary Eosinophilia, Simple|Simple Pulmonary Eosinophilia|Simple Pulmonary Eosinophilias|Syndrome, Loeffler|Tropical Eosinophilic Pneumonia|Tropical Eosinophilic Pneumonias Blood disease|Respiratory tract disease Pulmonary Fibrosis MESH:D011658 DO:DOID:3770 A process in which normal lung tissues are progressively replaced by FIBROBLASTS and COLLAGEN causing an irreversible loss of the ability to transfer oxygen into the bloodstream via PULMONARY ALVEOLI. Patients show progressive DYSPNEA finally resulting in death. MESH:D005355|MESH:D017563 C08.381.483.652|C23.550.355.644 C08.381.483|C23.550.355 Alveolitides, Fibrosing|Alveolitis, Fibrosing|Fibroses, Pulmonary|Fibrosing Alveolitides|Fibrosing Alveolitis|Fibrosis, Pulmonary|Idiopathic Diffuse Interstitial Pulmonary Fibrosis|Pulmonary Fibroses Pathology (process)|Respiratory tract disease PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 OMIM:614742 MESH:D000080983|MESH:D011658 C08.381.483.652/614742|C15.378.190.223/614742|C23.550.355.644/614742 C08.381.483.652|C15.378.190.223|C23.550.355.644 PFBMFT1 Blood disease|Pathology (process)|Respiratory tract disease PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2 OMIM:614743 MESH:D000080983|MESH:D011658 C08.381.483.652/614743|C15.378.190.223/614743|C23.550.355.644/614743 C08.381.483.652|C15.378.190.223|C23.550.355.644 PFBMFT2 Blood disease|Pathology (process)|Respiratory tract disease PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 OMIM:616373 MESH:D000080983|MESH:D011658 C08.381.483.652/616373|C15.378.190.223/616373|C23.550.355.644/616373 C08.381.483.652|C15.378.190.223|C23.550.355.644 PFBMFT3 Blood disease|Pathology (process)|Respiratory tract disease PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4 OMIM:616371 MESH:D000080983|MESH:D011658 C08.381.483.652/616371|C15.378.190.223/616371|C23.550.355.644/616371 C08.381.483.652|C15.378.190.223|C23.550.355.644 PFBMFT4 Blood disease|Pathology (process)|Respiratory tract disease PULMONARY FUNCTION OMIM:608852 MESH:D008171 C08.381/608852 C08.381 PLF LUNG FUNCTION, SMOKING-RELATED ACCELERATED RATE OF DECLINE IN, INCLUDED Respiratory tract disease Pulmonary Heart Disease MESH:D011660 DO:DOID:8515 Hypertrophy and dilation of the RIGHT VENTRICLE of the heart that is caused by PULMONARY HYPERTENSION. This condition is often associated with pulmonary parenchymal or vascular diseases, such as CHRONIC OBSTRUCTIVE PULMONARY DISEASE and PULMONARY EMBOLISM. MESH:D006331 C14.280.832 C14.280 Cor Pulmonale|Disease, Pulmonary Heart|Diseases, Pulmonary Heart|Heart Disease, Pulmonary|Heart Diseases, Pulmonary|Pulmonary Heart Diseases Cardiovascular disease PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO OMIM:612862 MESH:D006976|MESH:D011655 C08.381.423/612862|C08.381.746/612862|C14.907.355.350.700/612862|C14.907.489.556/612862 C08.381.423|C08.381.746|C14.907.355.350.700|C14.907.489.556 CTEPH, DVT-NEGATIVE, SUSCEPTIBILITY TO Cardiovascular disease|Respiratory tract disease PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO OMIM:615371 MESH:D065627 C08.381.423.300/615371 C08.381.423.300 PHN Respiratory tract disease Pulmonary Hypertension, Primary, Autosomal Recessive MESH:C564862 MESH:D006976 C08.381.423/C564862|C14.907.489.556/C564862 C08.381.423|C14.907.489.556 Cardiovascular disease|Respiratory tract disease Pulmonary Infarction MESH:D054060 NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung. MESH:D007238|MESH:D011655 C08.381.746.500|C14.907.355.350.700.500|C23.550.513.355.875|C23.550.717.489.875 C08.381.746|C14.907.355.350.700|C23.550.513.355|C23.550.717.489 Infarction, Pulmonary|Infarctions, Pulmonary|Infarct, Pulmonary|Infarcts, Pulmonary|Pulmonary Infarct|Pulmonary Infarctions|Pulmonary Infarcts Cardiovascular disease|Pathology (process)|Respiratory tract disease Pulmonary Sclerosing Hemangioma MESH:D047868 DO:DOID:5766 A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA. MESH:D008175 C04.588.894.797.520.933|C08.381.540.867|C08.785.520.867 C04.588.894.797.520|C08.381.540|C08.785.520 Hemangioma, Sclerosing, Pulmonary|Lung Sclerosing Hemangioma|Lung Sclerosing Hemangiomas|Pulmonary Sclerosing Hemangiomas|Sclerosing Hemangioma, Lung|Sclerosing Hemangioma of the Lung|Sclerosing Hemangioma, Pulmonary|Sclerosing Hemangiomas, Lung|Sclerosing Hemangiomas, Pulmonary Cancer|Respiratory tract disease Pulmonary Subvalvular Stenosis MESH:D011662 DO:DOID:8861 Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort. MESH:D011666 C14.280.484.716.762|C14.280.955.750.762 C14.280.484.716|C14.280.955.750 Conus, Obstructive Subaortic|Infundibular Stenoses, Pulmonary|Infundibular Stenosis, Pulmonary|Obstructive Subaortic Conus|Pulmonary Infundibular Stenoses|Pulmonary Infundibular Stenosis|Pulmonary Stenoses, Subvalvular|Pulmonary Stenosis, Subvalvular|Pulmonary Subvalvular Stenoses|Stenoses, Pulmonary Infundibular|Stenoses, Pulmonary Subvalvular|Stenoses, Subvalvular Pulmonary|Stenosis, Pulmonary Infundibular|Stenosis, Pulmonary Subvalvular|Stenosis, Subvalvular Pulmonary|Subaortic Conus, Obstructive|Subvalvular Pulmonary Stenoses|Subvalvular Pulmonary Stenosis|Subvalvular Stenoses, Pulmonary|Subvalvular Stenosis, Pulmonary Cardiovascular disease Pulmonary Valve Insufficiency MESH:D011665 DO:DOID:14265 Backflow of blood from the PULMONARY ARTERY into the RIGHT VENTRICLE due to imperfect closure of the PULMONARY VALVE. MESH:D006349 C14.280.484.660 C14.280.484 Incompetence, Pulmonary Valve|Insufficiency, Pulmonary Valve|Pulmonary Regurgitation|Pulmonary Valve Incompetence|Pulmonary Valve Regurgitation|Regurgitation, Pulmonary|Regurgitation, Pulmonary Valve|Valve Incompetence, Pulmonary|Valve Insufficiency, Pulmonary|Valve Regurgitation, Pulmonary Cardiovascular disease Pulmonary Valve Stenosis MESH:D011666 DO:DOID:6420 The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete. MESH:D006349|MESH:D014694 C14.280.484.716|C14.280.955.750 C14.280.484|C14.280.955 Pulmonary Stenose|Pulmonary Stenoses|Pulmonary Stenosis|Pulmonary Valve Stenoses|Pulmonic Stenoses|Pulmonic Stenoses, Valvular|Pulmonic Stenosis|Pulmonic Stenosis, Valvular|Stenose, Pulmonary|Stenoses, Pulmonary|Stenoses, Pulmonary Valve|Stenoses, Pulmonic|Stenosis, Pulmonary|Stenosis, Pulmonary Valve|Stenosis, Pulmonic|Valvular Pulmonic Stenoses|Valvular Pulmonic Stenosis Cardiovascular disease Pulmonary Veno-Occlusive Disease MESH:D011668 DO:DOID:5453|OMIM:234810|OMIM:265450 Pathological process resulting in the fibrous obstruction of the small- and medium-sized PULMONARY VEINS and PULMONARY HYPERTENSION. Veno-occlusion can arise from fibrous proliferation of the VASCULAR INTIMA and VASCULAR MEDIA; THROMBOSIS; or a combination of both. MESH:D008171|MESH:D014652 C08.381.780|C14.907.690 C08.381|C14.907 Diseases, Pulmonary Veno-Occlusive|HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY|Pulmonary Venoocclusive Disease|Pulmonary Veno Occlusive Disease|PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT|PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE|Pulmonary Venoocclusive Diseases|Pulmonary Veno-Occlusive Diseases|PVOD|PVOD1|PVOD2|Venoocclusive Disease, Pulmonary|Veno Occlusive Disease, Pulmonary|Veno-Occlusive Disease, Pulmonary|Venoocclusive Diseases, Pulmonary|Veno-Occlusive Diseases, Pulmonary Cardiovascular disease|Respiratory tract disease Pulmonic Stenosis and Congenital Nephrosis MESH:C562895 MESH:D009401|MESH:D011666 C12.050.351.968.419.630/C562895|C12.200.777.419.630/C562895|C12.950.419.630/C562895|C14.280.484.716/C562895|C14.280.955.750/C562895 C12.050.351.968.419.630|C12.200.777.419.630|C12.950.419.630|C14.280.484.716|C14.280.955.750 Cardiovascular disease|Urogenital disease (female)|Urogenital disease (male) Pulpitis MESH:D011671 DO:DOID:11121 Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis. MESH:D003788 C07.793.237.820 C07.793.237 Endodontic Inflammation|Endodontic Inflammations|Inflammation, Endodontic|Inflammations, Endodontic|Pulpitides Mouth disease Pupil Disorders MESH:D011681 DO:DOID:238 Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes. MESH:D005128|MESH:D009461 C10.597.690|C11.710|C23.888.592.708 C10.597|C11|C23.888.592 Abnormal Pupillary Function|Abnormal Pupillary Functions|Afferent Pupillary Defect|Afferent Pupillary Defects|Anomalies, Pupillary|Anomaly, Pupillary|Argyll-Robertson Pupil, Non-Syphilitic|Deformed Pupil|Deformed Pupils|Ectopic Pupil|Ectopic Pupils|Efferent Pupillary Defect|Efferent Pupillary Defects|Fixed Pupil|Fixed Pupils|Hemianopic Pupil, Wernicke|Hemianopic Pupil, Wernicke's|Keyhole Pupil|Keyhole Pupils|Malformation, Pupil|Malformations, Pupil|Marcus Gunn Pupil|Marcus-Gunn Pupil|Non Syphilitic Argyll Robertson Pupil|Non-Syphilitic Argyll-Robertson Pupil|Occluded Pupil|Occluded Pupils|Occlusion, Pupillary|Occlusions, Pupillary|Paralyses, Pupillary|Paralyses, Pupillary Sector|Paralysis, Pupillary|Paralysis, Pupillary Sector|Pupil, Deformed|Pupil Disorder|Pupil, Ectopic|Pupil, Fixed|Pupil, Keyhole|Pupillary Anomalies|Pupillary Anomaly|Pupillary Defect, Afferent|Pupillary Defect, Efferent|Pupillary Defects, Afferent|Pupillary Defects, Efferent|Pupillary Disorder|Pupillary Disorders|Pupillary Function, Abnormal|Pupillary Functions, Abnormal|Pupillary Occlusion|Pupillary Occlusions|Pupillary Paralyses|Pupillary Paralysis|Pupillary Sector Paralyses|Pupillary Sector Paralysis|Pupillary Sphincter Rupture|Pupillary Sphincter Ruptures|Pupil Malformation|Pupil Malformations|Pupil, Marcus-Gunn|Pupil, Non-Syphilitic Argyll-Robertson|Pupil, Occluded|Pupil Reaction Absent|Pupils, Deformed|Pupils, Ectopic|Pupils, Fixed|Pupils, Keyhole|Pupils, Occluded|Pupil, Wernicke Hemianopic|Pupil, Wernicke's Hemianopic|Reaction Absent, Pupil|Reaction Absents, Pupil|Rupture, Pupillary Sphincter|Ruptures, Pupillary Sphincter|Sector Paralyses, Pupillary|Sector Paralysis, Pupillary|Sector Pupil Palsy|Sphincter Rupture, Pupillary|Sphincter Ruptures, Pupillary|Wernicke Hemianopic Pupil|Wernicke's Hemianopic Pupil|Wernickes Hemianopic Pupil Eye disease|Nervous system disease|Signs and symptoms Pupil, Egg-Shaped MESH:C566731 MESH:D005124 C11.250/C566731|C16.131.384/C566731 C11.250|C16.131.384 Congenital abnormality|Eye disease Pupillary Membrane, Persistence Of MESH:C562700 MESH:D005124 C11.250/C562700|C16.131.384/C562700 C11.250|C16.131.384 Congenital abnormality|Eye disease Pure Autonomic Failure MESH:D054970 A degenerative disease of the AUTONOMIC NERVOUS SYSTEM that is characterized by idiopathic ORTHOSTATIC HYPOTENSION and a greatly reduced level of CATECHOLAMINES. No other neurological deficits are present. MESH:D054969 C10.177.575.650 C10.177.575 Autonomic Failure, Pure|Bradbury Eggleston Syndrome|Bradbury-Eggleston Syndrome|Syndrome, Bradbury-Eggleston Nervous system disease Purine Nucleoside Phosphorylase Deficiency MESH:C562587 DO:DOID:5813|OMIM:613179 MESH:D000081207|MESH:D011686 C16.320.565.798/C562587|C16.320.798/C562587|C18.452.648.798/C562587|C20.673.795/C562587 C16.320.565.798|C16.320.798|C18.452.648.798|C20.673.795 Nucleoside Phosphorylase Deficiency|PNP Deficiency Genetic disease (inborn)|Immune system disease|Metabolic disease Purine-Pyrimidine Metabolism, Inborn Errors MESH:D011686 Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero. MESH:D008661 C16.320.565.798|C18.452.648.798 C16.320.565|C18.452.648 Purine Pyrimidine Metabolism, Inborn Errors Genetic disease (inborn)|Metabolic disease Purpura MESH:D011693 DO:DOID:3326 Purplish or brownish red discoloration, easily visible through the epidermis, caused by hemorrhage into the tissues. When the size of the discolorization is >2-3 cm it is generally called Ecchymoses (ECCHYMOSIS). MESH:D001778|MESH:D006470|MESH:D012877 C15.378.100.802|C23.550.414.950|C23.888.885.687 C15.378.100|C23.550.414|C23.888.885 Petechiae|Purpuras Blood disease|Pathology (process)|Signs and symptoms Purpura Fulminans MESH:D055665 DO:DOID:0060538 A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by DISSEMINATED INTRAVASCULAR COAGULATION. MESH:D011693 C15.378.100.802.230|C23.550.414.950.230|C23.888.885.687.230 C15.378.100.802|C23.550.414.950|C23.888.885.687 Fulminans, Purpura Blood disease|Pathology (process)|Signs and symptoms Purpura, Hyperglobulinemic MESH:D011694 DO:DOID:3325 Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years. MESH:D011693|MESH:D020141 C14.907.454.550|C15.378.100.802.250|C15.378.463.515.550|C23.550.414.950.250|C23.888.885.687.250 C14.907.454|C15.378.100.802|C15.378.463.515|C23.550.414.950|C23.888.885.687 Benign Hyperglobulinemic Purpura of Waldenström|Hypergammaglobulinemic Purpura of Waldenstrom|Hyperglobulinemic Purpura|Hyperglobulinemic Purpura of Waldenström|Hyperglobulinemic Purpuras|Hyperglobulinemic Purpura, Waldenstrom|Purpuras, Hyperglobulinemic|Purpura, Waldenstrom Hyperglobulinemic|Waldenstrom Hypergammaglobulinemic Purpura|Waldenstrom Hyperglobulinemic Purpura|Waldenström Hyperglobulinemic Purpura Blood disease|Cardiovascular disease|Pathology (process)|Signs and symptoms Purpura simplex MESH:C536249 MESH:D011693 C15.378.100.802/C536249|C23.550.414.950/C536249|C23.888.885.687/C536249 C15.378.100.802|C23.550.414.950|C23.888.885.687 Hereditary familial purpura simplex Blood disease|Pathology (process)|Signs and symptoms Purpura, Thrombocytopenic MESH:D011696 Any form of purpura in which the PLATELET COUNT is decreased. Many forms are thought to be caused by immunological mechanisms. MESH:D007154|MESH:D011693|MESH:D057049 C15.378.100.802.687|C15.378.140.855.925.750|C20.841|C23.550.414.950.687|C23.888.885.687.687 C15.378.100.802|C15.378.140.855.925|C20|C23.550.414.950|C23.888.885.687 Purpuras, Thrombocytopenic|Purpuras, Thrombopenic|Purpura, Thrombopenic|Thrombocytopenic Purpura|Thrombocytopenic Purpuras|Thrombopenic Purpura|Thrombopenic Purpuras Blood disease|Immune system disease|Pathology (process)|Signs and symptoms Purpura, Thrombocytopenic, Idiopathic MESH:D016553 DO:DOID:8924|OMIM:188030 Thrombocytopenia occurring in the absence of toxic exposure or a disease associated with decreased platelets. It is mediated by immune mechanisms, in most cases IMMUNOGLOBULIN G autoantibodies which attach to platelets and subsequently undergo destruction by macrophages. The disease is seen in acute (affecting children) and chronic (adult) forms. MESH:D001327|MESH:D006474|MESH:D011696 C15.378.100.802.687.600|C15.378.140.855.925.750.600|C15.378.463.740|C20.111.759|C20.841.600|C23.550.414.950.687.600|C23.888.885.687.687.600 C15.378.100.802.687|C15.378.140.855.925.750|C15.378.463|C20.111|C20.841|C23.550.414.950.687|C23.888.885.687.687 AITP|Autoimmune Thrombocytopenia|Autoimmune Thrombocytopenias|Autoimmune Thrombocytopenic Purpura|Autoimmune Thrombocytopenic Purpuras|Disease, Werlhof|Disease, Werlhof's|Idiopathic Thrombocytopenic Purpura|Idiopathic Thrombocytopenic Purpuras|Immune Thrombocytopenia|Immune Thrombocytopenias|Immune Thrombocytopenic Purpura|Immune Thrombocytopenic Purpuras|ITP|Purpura, Autoimmune Thrombocytopenic|Purpura, Idiopathic Thrombocytopenic|Purpura, Immune Thrombocytopenic|Purpuras, Autoimmune Thrombocytopenic|Purpuras, Idiopathic Thrombocytopenic|Purpuras, Immune Thrombocytopenic|Purpura, Thrombocytopenic, Autoimmune|Thrombocytopenia, Autoimmune|Thrombocytopenia, Immune|Thrombocytopenias, Autoimmune|Thrombocytopenias, Immune|Thrombocytopenic Purpura, Autoimmune|Thrombocytopenic Purpura, Idiopathic|Thrombocytopenic Purpura, Immune|Thrombocytopenic Purpuras, Idiopathic|Thrombocytopenic Purpuras, Immune|Werlhof Disease|Werlhof's Disease|Werlhofs Disease Blood disease|Immune system disease|Pathology (process)|Signs and symptoms Purpura, Thrombotic Thrombocytopenic MESH:D011697 DO:DOID:10772|OMIM:274150 An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE. Mutations in the ADAMTS13 PROTEIN gene have been identified in familial cases. MESH:D011696|MESH:D019851 C15.378.100.802.687.680|C15.378.140.855.925.750.680|C15.378.925.850|C23.550.414.950.687.680|C23.888.885.687.687.680 C15.378.100.802.687|C15.378.140.855.925.750|C15.378.925|C23.550.414.950.687|C23.888.885.687.687 Congenital Thrombotic Thrombocytopenic Purpura|Familial Thrombotic Microangiopathy|Familial Thrombotic Thrombocytopenia Purpura|Familial Thrombotic Thrombocytopenic Purpura|MICROANGIOPATHIC HEMOLYTIC ANEMIA|Microangiopathic Hemolytic Anemia, Congenital|Microangiopathy, Familial Thrombotic|Moschcowitz Disease|Moschkowitz Disease|Purpura, Thrombotic Thrombopenic|Schulman Upshaw Syndrome|Schulman-Upshaw Syndrome|Thrombocytopenic Purpura, Thrombotic|Thrombopenic Purpura, Thrombotic|Thrombotic Microangiopathy, Familial|Thrombotic Thrombocytopenic Purpura|Thrombotic Thrombocytopenic Purpura, Congenital|Thrombotic Thrombocytopenic Purpura, Familial|THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY|THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY, INFANTILE- OR ADULT-ONSET|Thrombotic Thrombopenic Purpura|TTP|Upshaw Factor, Deficiency of|Upshaw Schulman Syndrome|Upshaw-Schulman Syndrome|USS Blood disease|Pathology (process)|Signs and symptoms Putaminal Hemorrhage MESH:D020146 Intracranial bleeding into the PUTAMEN, a BASAL GANGLIA nucleus. This is associated with HYPERTENSION and lipohyalinosis of small blood vessels in the putamen. Clinical manifestations vary with the size of hemorrhage, but include HEMIPARESIS; HEADACHE; and alterations of consciousness. MESH:D020145 C10.228.140.079.127.500.500|C10.228.140.300.100.200.500|C10.228.140.300.535.200.150.500|C14.907.253.061.200.500|C14.907.253.573.200.150.500|C23.550.414.913.100.200.500 C10.228.140.079.127.500|C10.228.140.300.100.200|C10.228.140.300.535.200.150|C14.907.253.061.200|C14.907.253.573.200.150|C23.550.414.913.100.200 Brain Hemorrhage, Putaminal|Brain Hemorrhages, Putaminal|Hemorrhage, Putamen|Hemorrhage, Putaminal|Putamen Hemorrhage|Putaminal Hematoma Cardiovascular disease|Nervous system disease|Pathology (process) Pycnodysostosis MESH:D058631 DO:DOID:0080038|OMIM:265800 Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K. MESH:D010009|MESH:D016464|MESH:D030342 C05.116.099.708.779|C16.320.565.595.800|C16.320.812|C18.452.648.595.800 C05.116.099.708|C16.320|C16.320.565.595|C18.452.648.595 PKND|PYCD|Pycnodysostoses|Pyknodysostoses|Pyknodysostosis Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Pyelectasis MESH:D058536 Dilation of fetal KIDNEY PELVIS. It is a common PRENATAL ULTRASONOGRAPHY finding with no significant long-term sequelae. MESH:D005315|MESH:D014564 C12.050.703.277.838|C16.131.939.831|C16.300.895 C12.050.703.277|C16.131.939|C16.300 Fetal Pyelectases|Fetal Pyelectasis|Prenatal Fetal Pyelectases|Prenatal Fetal Pyelectasis|Pyelectases|Pyelectases, Fetal|Pyelectasis, Fetal Congenital abnormality|Fetal disease|Pregnancy complication Pyelitis MESH:D011702 DO:DOID:2744 Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed. MESH:D009393 C12.050.351.968.419.570.821|C12.200.777.419.570.821|C12.950.419.570.821 C12.050.351.968.419.570|C12.200.777.419.570|C12.950.419.570 Urogenital disease (female)|Urogenital disease (male) Pyelocystitis MESH:D053653 Inflammation of the KIDNEY PELVIS and the URINARY BLADDER. MESH:D003556|MESH:D011702 C12.050.351.968.419.570.821.358|C12.050.351.968.829.495.750|C12.200.777.419.570.821.358|C12.200.777.829.495.750|C12.950.419.570.821.358|C12.950.829.495.750 C12.050.351.968.419.570.821|C12.050.351.968.829.495|C12.200.777.419.570.821|C12.200.777.829.495|C12.950.419.570.821|C12.950.829.495 Cystopyelitis Urogenital disease (female)|Urogenital disease (male) Pyelonephritis MESH:D011704 DO:DOID:11400 Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA. MESH:D009395|MESH:D011702 C12.050.351.968.419.570.643.790|C12.050.351.968.419.570.821.717|C12.200.777.419.570.643.790|C12.200.777.419.570.821.717|C12.950.419.570.643.790|C12.950.419.570.821.717 C12.050.351.968.419.570.643|C12.050.351.968.419.570.821|C12.200.777.419.570.643|C12.200.777.419.570.821|C12.950.419.570.643|C12.950.419.570.821 Necrotizing Pyelonephritis|Pyelonephritides|Pyelonephritis, Acute Necrotizing Urogenital disease (female)|Urogenital disease (male) Pyelonephritis, Xanthogranulomatous MESH:D011705 DO:DOID:11401 A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES. MESH:D011704 C12.050.351.968.419.570.643.790.810|C12.050.351.968.419.570.821.717.810|C12.200.777.419.570.643.790.810|C12.200.777.419.570.821.717.810|C12.950.419.570.643.790.810|C12.950.419.570.821.717.810 C12.050.351.968.419.570.643.790|C12.050.351.968.419.570.821.717|C12.200.777.419.570.643.790|C12.200.777.419.570.821.717|C12.950.419.570.643.790|C12.950.419.570.821.717 Pyelonephritides, Xanthogranulomatous|Xanthogranulomatous Pyelonephritides|Xanthogranulomatous Pyelonephritis Urogenital disease (female)|Urogenital disease (male) Pyknoachondrogenesis MESH:C536251 MESH:D010026 C05.116.099.708.702/C536251 C05.116.099.708.702 Musculoskeletal disease Pyle disease MESH:C536252 OMIM:265900 MESH:D010009 C05.116.099.708/C536252|C16.320.728/C536252 C05.116.099.708|C16.320.728 Edwin Pyle disease|Metaphyseal dysplasia|METAPHYSEAL DYSPLASIA, PYLE TYPE|Metaphyseal dysplasia with little involvement of the cranial bones|PYL Genetic disease (inborn)|Musculoskeletal disease Pyloric Atresia MESH:C562561 MESH:D017219 C06.405.748.340/C562561 C06.405.748.340 Digestive system disease Pyloric Stenosis MESH:D011707 DO:DOID:12639 Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants. MESH:D017219 C06.405.748.340.690 C06.405.748.340 Obstruction, Pyloric|Obstruction, Pylorus|Pyloric Obstruction|Pyloric Obstructions|Pylorus Obstruction|Pylorus Obstructions|Stenosis, Pyloric Digestive system disease Pyloric Stenosis, Hypertrophic MESH:D046248 DO:DOID:12638 Narrowing of the pyloric canal due to HYPERTROPHY of the surrounding circular muscle. It is usually seen in infants or young children. MESH:D011707 C06.405.748.340.690.500 C06.405.748.340.690 Hypertrophic Pyloric Stenosis|Idiopathic Hypertrophic Pyloric Stenosis|IHPS1 Infantile Hypertrophic Pyloric Stenosis 1|Infantile Hypertrophic Pyloric Stenosis|Infantile Pyloric Stenoses|Infantile Pyloric Stenosis|Primary Hypertrophic Pyloric Stenosis|Pyloric Stenosis, Infantile|Pyloric Stenosis, Infantile Hypertrophic|Pyloric Stenosis, Infantile Hypertrophic 1|Stenosis, Hypertrophic Pyloric|Stenosis, Infantile Pyloric Digestive system disease PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1 OMIM:179010 DO:DOID:12638 MESH:D046248 C06.405.748.340.690.500/179010 C06.405.748.340.690.500 IHPS|IHPS1|PYLORIC STENOSIS, INFANTILE|PYLORIC STENOSIS, INFANTILE HYPERTROPHIC Digestive system disease Pyloric Stenosis, Infantile Hypertrophic, 2 MESH:C565208 OMIM:610260 MESH:D046248 C06.405.748.340.690.500/C565208 C06.405.748.340.690.500 IHPS2 Digestive system disease Pyloric Stenosis, Infantile Hypertrophic, 3 MESH:C567435 OMIM:612017 MESH:D046248 C06.405.748.340.690.500/C567435 C06.405.748.340.690.500 IHPS3 Digestive system disease Pyloric Stenosis, Infantile Hypertrophic, 4 MESH:C567472 OMIM:300711 MESH:D046248 C06.405.748.340.690.500/C567472 C06.405.748.340.690.500 IHPS4 Digestive system disease Pyloric Stenosis, Infantile Hypertrophic, 5 MESH:C567283 OMIM:612525 MESH:D046248 C06.405.748.340.690.500/C567283 C06.405.748.340.690.500 IHPS5 Digestive system disease Pyoderma MESH:D011711 DO:DOID:4223 Any purulent skin disease (Dorland, 27th ed). MESH:D012871 C17.800.695 C17.800 Pyodermas Skin disease Pyoderma Gangrenosum MESH:D017511 DO:DOID:8553 An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown. MESH:D011711|MESH:D012883|MESH:D017445 C17.800.695.675|C17.800.862.675|C17.800.893.675 C17.800.695|C17.800.862|C17.800.893 Skin disease Pyogenic arthritis, pyoderma gangrenosum, and acne MESH:C536253 OMIM:604416 MESH:D000152|MESH:D001170|MESH:D017511 C01.100/C536253|C05.550.114.099/C536253|C17.800.030.150/C536253|C17.800.695.675/C536253|C17.800.794.111/C536253|C17.800.862.675/C536253|C17.800.893.675/C536253 C01.100|C05.550.114.099|C17.800.030.150|C17.800.695.675|C17.800.794.111|C17.800.862.675|C17.800.893.675 Familial recurrent arthritis|FRA|PAPAS|PAPA syndrome|Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne|Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Musculoskeletal disease|Skin disease Pyometra MESH:D055112 An accumulation of PUS in the uterine cavity (UTERUS). Pyometra generally indicates the presence of infections. MESH:D014591 C12.050.351.500.852.544|C12.100.250.852.544 C12.050.351.500.852|C12.100.250.852 Pyometras Urogenital disease (female) Pyomyositis MESH:D052880 DO:DOID:876 An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS. MESH:D009220|MESH:D013492 C01.830.767|C05.651.594.909|C10.668.491.562.787 C01.830|C05.651.594|C10.668.491.562 Myositis, Tropical|Tropical Myositis Musculoskeletal disease|Nervous system disease Pyonephrosis MESH:D053018 Distention of KIDNEY with the presence of PUS and suppurative destruction of the renal parenchyma. It is often associated with renal obstruction and can lead to total or nearly total loss of renal function. MESH:D006869 C12.050.351.968.419.307.500|C12.200.777.419.307.500|C12.950.419.307.500 C12.050.351.968.419.307|C12.200.777.419.307|C12.950.419.307 Hydronephrosis, Infected|Infected Hydronephrosis Urogenital disease (female)|Urogenital disease (male) Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency MESH:C566449 DO:DOID:0111329|OMIM:610090 MESH:D001928|MESH:D012640|MESH:D020925 C10.228.140.163/C566449|C10.228.140.300.150.716/C566449|C10.228.140.624.500/C566449|C10.597.742/C566449|C14.907.253.092.716/C566449|C18.452.132/C566449|C23.888.592.742/C566449|C23.888.852.079.797.500/C566449 C10.228.140.163|C10.228.140.300.150.716|C10.228.140.624.500|C10.597.742|C14.907.253.092.716|C18.452.132|C23.888.592.742|C23.888.852.079.797.500 Epileptic Encephalopathy, Neonatal, PNPO-Related|PNPOD|PNPO Deficiency|PNPO-Related Neonatal Epileptic Encephalopathy|Pyridoxal 5'-Phosphate-Dependent Epilepsy|Pyridoxine-5'-Phosphate Oxidase Deficiency|Seizures, Pyridoxine-Resistant, PLP-Sensitive Cardiovascular disease|Metabolic disease|Nervous system disease|Signs and symptoms Pyridoxine-dependent epilepsy MESH:C536254 DO:DOID:0080768|OMIM:266100|OMIM:617290 MESH:D004827 C10.228.140.490/C536254 C10.228.140.490 Aasa Dehydrogenase Deficiency|EPD|EPEO1|EPEO4|EPILEPSY, EARLY-ONSET, 1, VITAMIN B6-DEPENDENT|EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT|Epilepsy, Pyridoxine-Dependent|EPVB6D|PDE|Pyridoxine dependency|Pyridoxine dependency with seizures|PYRIDOXINE-DEPENDENT EPILEPSY|Pyridoxine-Dependent Seizures|Vitamin B6-Dependent Seizures Nervous system disease Pyropoikilocytosis, Hereditary MESH:C563004 OMIM:266140 MESH:D004612 C15.378.071.141.150.365/C563004|C16.320.070.365/C563004 C15.378.071.141.150.365|C16.320.070.365 HPP Blood disease|Genetic disease (inborn) Pyruvate Carboxylase Deficiency Disease MESH:D015324 DO:DOID:3651|OMIM:266150 An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9) MESH:D015323|MESH:D020739|MESH:D028361 C10.228.140.163.100.725|C16.320.565.189.725|C16.320.565.202.810.666|C18.452.132.100.725|C18.452.648.189.725|C18.452.648.202.810.666|C18.452.660.705 C10.228.140.163.100|C16.320.565.189|C16.320.565.202.810|C18.452.132.100|C18.452.648.189|C18.452.648.202.810|C18.452.660 Ataxia with Lactic Acidosis 2|Ataxia with Lactic Acidosis II|Ataxia with Lactic Acidosis, Type II|Deficiency Disease, Pyruvate Carboxylase|Deficiency, Pyruvate Carboxylase|Lactic Acidosis with Ataxia, Type II|LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUVATE CARBOXYLASE DEFICIENCY|LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY|PC DEFICIENCY|Pyruvate Carboxylase Deficiency|Type II Ataxia with Lactic Acidosis Genetic disease (inborn)|Metabolic disease|Nervous system disease Pyruvate Dehydrogenase Complex Deficiency Disease MESH:D015325 DO:DOID:3649|OMIM:312170 An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE. MESH:D015323|MESH:D020739|MESH:D028361|MESH:D038901 C10.228.140.163.100.750|C10.597.606.360.455.875|C16.320.322.500.875|C16.320.400.525.875|C16.320.565.189.750|C16.320.565.202.810.766|C18.452.132.100.750|C18.452.648.189.750|C18.452.648.202.810.766|C18.452.660.710 C10.228.140.163.100|C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C16.320.565.189|C16.320.565.202.810|C18.452.132.100|C18.452.648.189|C18.452.648.202.810|C18.452.660 Ataxia, Intermittent, with Abnormal Pyruvate Metabolism|ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY|Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency|Ataxia with Lactic Acidosis|Ataxia with Lactic Acidosis I|ATAXIA WITH LACTIC ACIDOSIS I LACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDED|Ataxia with Lactic Acidosis, Type I|Deficiency, PDH|Deficiency, PDHC|Deficiency, Pyruvate Decarboxylase|Deficiency, Pyruvate Dehydrogenase|Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency|Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease|Lactic Acidosis with Ataxia, Type I|Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease|PDHAD|PDHC Deficiency|PDHC Deficiency Disease|PDH Deficiency|Pyruvate Decarboxylase Deficiency|Pyruvate Dehydrogenase Complex Deficiency|Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile|Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal|Pyruvate Dehydrogenase Deficiency|PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY|Type I Ataxia with Lactic Acidosis Genetic disease (inborn)|Metabolic disease|Nervous system disease Pyruvate Dehydrogenase E1 Alpha Deficiency MESH:C564071 MESH:D000140 C18.452.076.176.180/C564071 C18.452.076.176.180 Lactic Acidemia, Thiamine Responsive Metabolic disease Pyruvate Dehydrogenase E1-Beta Deficiency MESH:C566729 OMIM:614111 MESH:D015325 C10.228.140.163.100.750/C566729|C10.597.606.360.455.875/C566729|C16.320.322.500.875/C566729|C16.320.400.525.875/C566729|C16.320.565.189.750/C566729|C16.320.565.202.810.766/C566729|C18.452.132.100.750/C566729|C18.452.648.189.750/C566729|C18.452.648.202.810.766/C566729|C18.452.660.710/C566729 C10.228.140.163.100.750|C10.597.606.360.455.875|C16.320.322.500.875|C16.320.400.525.875|C16.320.565.189.750|C16.320.565.202.810.766|C18.452.132.100.750|C18.452.648.189.750|C18.452.648.202.810.766|C18.452.660.710 PDHBD Genetic disease (inborn)|Metabolic disease|Nervous system disease Pyruvate Dehydrogenase E2 Deficiency MESH:C565448 OMIM:245348 MESH:D000140|MESH:D015325 C10.228.140.163.100.750/C565448|C10.597.606.360.455.875/C565448|C16.320.322.500.875/C565448|C16.320.400.525.875/C565448|C16.320.565.189.750/C565448|C16.320.565.202.810.766/C565448|C18.452.076.176.180/C565448|C18.452.132.100.750/C565448|C18.452.648.189.750/C565448|C18.452.648.202.810.766/C565448|C18.452.660.710/C565448 C10.228.140.163.100.750|C10.597.606.360.455.875|C16.320.322.500.875|C16.320.400.525.875|C16.320.565.189.750|C16.320.565.202.810.766|C18.452.076.176.180|C18.452.132.100.750|C18.452.648.189.750|C18.452.648.202.810.766|C18.452.660.710 Lactic Acidemia due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex|PDHDD Genetic disease (inborn)|Metabolic disease|Nervous system disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency MESH:C565447 OMIM:245349 MESH:D000140|MESH:D015325 C10.228.140.163.100.750/C565447|C10.597.606.360.455.875/C565447|C16.320.322.500.875/C565447|C16.320.400.525.875/C565447|C16.320.565.189.750/C565447|C16.320.565.202.810.766/C565447|C18.452.076.176.180/C565447|C18.452.132.100.750/C565447|C18.452.648.189.750/C565447|C18.452.648.202.810.766/C565447|C18.452.660.710/C565447 C10.228.140.163.100.750|C10.597.606.360.455.875|C16.320.322.500.875|C16.320.400.525.875|C16.320.565.189.750|C16.320.565.202.810.766|C18.452.076.176.180|C18.452.132.100.750|C18.452.648.189.750|C18.452.648.202.810.766|C18.452.660.710 Lactic Acidemia due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex|PDHXD Genetic disease (inborn)|Metabolic disease|Nervous system disease Pyruvate dehydrogenase phosphatase deficiency MESH:C536258 OMIM:608782 MESH:D000140 C18.452.076.176.180/C536258 C18.452.076.176.180 Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|PDHPD Metabolic disease Pyruvate Kinase Deficiency of Red Cells MESH:C564858 DO:DOID:0111077|OMIM:266200 MESH:D000746|MESH:D015323 C15.378.071.141.150.100/C564858|C16.320.070.100/C564858|C16.320.565.202.810/C564858|C18.452.648.202.810/C564858 C15.378.071.141.150.100|C16.320.070.100|C16.320.565.202.810|C18.452.648.202.810 PK Deficiency|Pyruvate Kinase Deficiency|Pyruvate Kinase Deficiency of Erythrocyte Blood disease|Genetic disease (inborn)|Metabolic disease Pyruvate Metabolism, Inborn Errors MESH:D015323 Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders. MESH:D002239 C16.320.565.202.810|C18.452.648.202.810 C16.320.565.202|C18.452.648.202 Genetic disease (inborn)|Metabolic disease Pythiosis MESH:D058968 A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial. MESH:D000820|MESH:D010273 C01.610.701.844|C22.761 C01.610.701|C22 Infection, Pythium insidiosum|Pythioses|Pythiosis Insidiosi|Pythium insidiosum Infection|Pythium insidiosum Infections Animal disease|Parasitic disease Pyuria MESH:D011776 DO:DOID:1439 The presence of white blood cells (LEUKOCYTES) in the urine. It is often associated with bacterial infections of the urinary tract. Pyuria without BACTERIURIA can be caused by TUBERCULOSIS, stones, or cancer. MESH:D014552 C01.915.719|C12.050.351.968.892.719|C12.200.777.892.719|C12.950.892.719 C01.915|C12.050.351.968.892|C12.200.777.892|C12.950.892 Pyurias Urogenital disease (female)|Urogenital disease (male) Qazi Markouizos syndrome MESH:C536259 DO:DOID:0050740 MESH:D000015|MESH:D006130|MESH:D008607|MESH:D009123|MESH:D012640 C10.597.606.360/C536259|C10.597.613.575/C536259|C10.597.742/C536259|C16.131.077/C536259|C23.550.393/C536259|C23.888.592.604.646/C536259|C23.888.592.608.575/C536259|C23.888.592.742/C536259|F03.625.539/C536259 C10.597.606.360|C10.597.613.575|C10.597.742|C16.131.077|C23.550.393|C23.888.592.604.646|C23.888.592.608.575|C23.888.592.742|F03.625.539 Dysharmonic skeletal maturation muscular fibre disproportion|Puertorican infant hypotonia syndrome|Puerto Rican Infant Hypotonia Syndrome Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Q Fever MESH:D011778 DO:DOID:11100 An acute infectious disease caused by COXIELLA BURNETII. It is characterized by a sudden onset of FEVER; HEADACHE; malaise; and weakness. In humans, it is commonly contracted by inhalation of infected dusts derived from infected domestic animals (ANIMALS, DOMESTIC). MESH:D016905 C01.150.252.400.755 C01.150.252.400 Acute Q Fever|Acute Q Fevers|Chronic Q Fever|Chronic Q Fevers|Coxiella burnetii Fever|Coxiella burnetii Fevers|Coxiella burnetii Infection|Coxiella burnetii Infections|Coxiella burnetii Vector Borne Disease|Coxiella burnetii Vector-Borne Disease|Fever, Acute Q|Fever, Chronic Q|Fever, Coxiella burnetii|Fever, Q|Fever, Query|Fevers, Acute Q|Fevers, Chronic Q|Fevers, Coxiella burnetii|Fevers, Q|Fevers, Query|Infection, Coxiella burnetii|Infections, Coxiella burnetii|Q Fever, Acute|Q Fever, Chronic|Q Fevers|Q Fevers, Acute|Q Fevers, Chronic|Query Fever|Query Fevers Bacterial infection or mycosis QT INTERVAL, VARIATION IN OMIM:610141 MESH:D001145 C14.280.067/610141|C23.550.073/610141 C14.280.067|C23.550.073 Cardiovascular disease|Pathology (process) Quadricuspid Aortic Valve MESH:D000082902 Congenital malformation where the AORTIC VALVE has four instead of three cusps. It is often associated with AORTIC REGURGITATION and AORTIC VALVE STENOSIS. MESH:D000082862|MESH:D006330 C14.240.400.818|C14.280.400.818|C14.280.484.048.937|C16.131.240.400.817 C14.240.400|C14.280.400|C14.280.484.048|C16.131.240.400 Aortic Valve, Quadricuspid|Congenital Quadricuspid Aortic Valve|Quadricuspid Aortic Valve Condition|Quadricuspid Aortic Valve Disease|Quadricuspid Aortic Valve Disorder|Quadricuspid Aortic Valves|Quadricuspid Aortic Valvular Disease Cardiovascular disease|Congenital abnormality Quadriplegia MESH:D011782 DO:DOID:12835 Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts. MESH:D010243 C10.597.622.760|C23.888.592.636.786 C10.597.622|C23.888.592.636 Flaccid Quadriplegia|Flaccid Quadriplegias|Flaccid Tetraplegia|Flaccid Tetraplegias|Paralysis, Spinal, Quadriplegic|Quadripareses|Quadriparesis|Quadriplegia, Flaccid|Quadriplegias|Quadriplegias, Flaccid|Quadriplegia, Spastic|Quadriplegias, Spastic|Spastic Quadriplegia|Spastic Quadriplegias|Spastic Tetraplegia|Spastic Tetraplegias|Tetraplegia|Tetraplegia, Flaccid|Tetraplegias|Tetraplegias, Flaccid|Tetraplegia, Spastic|Tetraplegias, Spastic Nervous system disease|Signs and symptoms Quebec platelet disorder MESH:C536260 DO:DOID:0111050|OMIM:601709 MESH:D005166 C15.378.100.100.300/C536260|C15.378.100.141.300/C536260|C15.378.463.300/C536260|C16.320.099.300/C536260 C15.378.100.100.300|C15.378.100.141.300|C15.378.463.300|C16.320.099.300 BDPLT5|BLEEDING DISORDER, PLATELET-TYPE, 5|Factor V Quebec|QPD Blood disease|Genetic disease (inborn) Rabies MESH:D011818 DO:DOID:11260 Acute VIRAL CNS INFECTION affecting mammals, including humans. It is caused by RABIES VIRUS and usually spread by contamination with virus-laden saliva of bites inflicted by rabid animals. Important animal vectors include the dog, cat, bat, fox, raccoon, skunk, and wolf. MESH:D018353 C01.925.782.580.830.750 C01.925.782.580.830 Encephalitic Rabies|Furious Rabies|Furious Raby|Hydrophobia|Lyssa|Lyssas|Paralytic Rabies|Rabies, Encephalitic|Rabies, Furious|Raby, Furious Viral disease Radial defect Robin sequence MESH:C536261 MESH:D000015|MESH:D005532|MESH:D010855 C05.330.495/C536261|C05.500.460.606/C536261|C05.660.207.540.460.606/C536261|C05.660.585.512.380/C536261|C07.320.440.606/C536261|C07.650.500.460.606/C536261|C16.131.077/C536261|C16.131.621.207.540.460.606/C536261|C16.131.621.585.512.500/C536261|C16.131.850.500.460.606/C536261 C05.330.495|C05.500.460.606|C05.660.207.540.460.606|C05.660.585.512.380|C07.320.440.606|C07.650.500.460.606|C16.131.077|C16.131.621.207.540.460.606|C16.131.621.585.512.500|C16.131.850.500.460.606 Bilateral radial defects, club foot deformity, micrognathia and cleft palate|Bruce winship syndrome Congenital abnormality|Mouth disease|Musculoskeletal disease Radial Head and Neck Fractures MESH:D000092467 Fractures of the proximal head and/or neck of the RADIUS bone near the ELBOW JOINT. MESH:D000092482|MESH:D011885 C26.088.134.500.875|C26.088.268.556.500|C26.404.020.500|C26.404.562.678 C26.088.134.500|C26.088.268.556|C26.404.020|C26.404.562 Fracture of Head of Radius|Fracture of Neck of Radius|Fracture, Radial Head|Fracture, Radial Neck|Fractures of Head of Radius|Fractures of Neck of Radius|Head Fracture, Radial|Neck Fracture, Radial|Radial Head Fracture|Radial Head Fractures|Radial Neck and Head Fractures|Radial Neck Fracture|Radial Neck Fractures Wounds and injuries Radial Heads, Posterior Dislocation Of MESH:C566728 MESH:D017760 C05.116.214/C566728 C05.116.214 Congenital Posterior Dislocation of the Radial Head Musculoskeletal disease Radial hypoplasia, triphalangeal thumbs and hypospadias MESH:C536262 MESH:D000015|MESH:D003970|MESH:D007021 C07.650.800.320/C536262|C07.793.700.320/C536262|C12.050.351.875.466/C536262|C12.100.500.494.400/C536262|C12.200.294.494.400/C536262|C12.200.706.516/C536262|C12.800.516/C536262|C16.131.077/C536262|C16.131.850.800.320/C536262|C16.131.939.516/C536262 C07.650.800.320|C07.793.700.320|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.077|C16.131.850.800.320|C16.131.939.516 Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema|Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema|Schmitt Gillenwater Kelly syndrome Congenital abnormality|Mouth disease|Urogenital disease (female)|Urogenital disease (male) Radial Neuropathy MESH:D020425 DO:DOID:12171 Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS. MESH:D020422 C10.668.829.500.650 C10.668.829.500 Cheiralgia Paresthetica|Cheiralgia Parestheticas|Compression, Radial Nerve|Crutch Palsies|Crutch Palsy|Crutch Paralyses|Crutch Paralysis|Entrapment, Radial Nerve|Lesion, Superficial Radial Nerve|Mononeuropathy, Radial|Nerve Compression, Radial|Nerve Entrapment, Radial|Neuropathy, Radial|Night Palsies, Saturday|Night Palsy, Saturday|Palsies, Saturday Night|Palsy, Crutch|Palsy, Radial|Palsy, Radial Nerve|Palsy, Saturday Night|Paralysis, Crutch|Paresthetica, Cheiralgia|Posterior Interosseous Nerve Syndrome|Radial Mononeuropathies|Radial Mononeuropathy|Radial Nerve Compression|Radial Nerve Compressions|Radial Nerve Disease|Radial Nerve Diseases|Radial Nerve Entrapment|Radial Nerve Entrapments|Radial Nerve Palsies|Radial Nerve Palsy|Radial Neuropathies|Radial Palsies|Radial Palsy|Radial Tunnel Syndrome|Radial Tunnel Syndromes|Saturday Night Palsies|Saturday Night Palsy|Superficial Radial Nerve Lesion|Supinator Syndrome|Supinator Syndromes|Syndrome, Supinator|Tunnel Syndrome, Radial|Wartenberg Syndrome|Wrist Drop|Wrist-Drop Nervous system disease Radial Ray Deficiency, X-Linked MESH:C564523 OMIM:300378 MESH:D006344|MESH:D014188|MESH:D017880|MESH:D040181 C05.660.585/C564523|C14.240.400.560.375/C564523|C14.240.400.915/C564523|C14.280.400.560.375/C564523|C14.280.400.915/C564523|C16.131.240.400.560.375/C564523|C16.131.240.400.915/C564523|C16.131.621.585/C564523|C16.320.322/C564523 C05.660.585|C14.240.400.560.375|C14.240.400.915|C14.280.400.560.375|C14.280.400.915|C16.131.240.400.560.375|C16.131.240.400.915|C16.131.621.585|C16.320.322 RRDX Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Radiation Fibrosis Syndrome MESH:D000087525 Radiation-induced fibrosis due to increased production of FIBRIN. Its symptoms include CERVICAL DYSTONIA, difficulty with speech and swallowing, swelling in the radiation field and TRISMUS. MESH:D005355|MESH:D011832 C23.550.355.663|C26.733.685 C23.550.355|C26.733 Fibrosis, Radiation|Fibrosis, Radiation-Induced|Fibrosis Syndrome, Radiation|Radiation Fibrosis|Radiation Induced Fibrosis|Radiation-Induced Fibrosis Pathology (process)|Wounds and injuries Radiation induced angiosarcoma of the breast MESH:C536264 MESH:D001943|MESH:D006394|MESH:D009381 C04.557.450.795.390/C536264|C04.557.645.390/C536264|C04.588.180/C536264|C04.682/C536264|C17.800.090.500/C536264|C26.733.476/C536264 C04.557.450.795.390|C04.557.645.390|C04.588.180|C04.682|C17.800.090.500|C26.733.476 Post-irradiation angiosarcoma of the breast Cancer|Skin disease|Wounds and injuries Radiation induced brachial plexopathy MESH:C536265 MESH:D011832|MESH:D020516 C10.668.829.100/C536265|C26.733/C536265 C10.668.829.100|C26.733 Radiation induced brachial neuritis|Radiation injury to the brachial plexus Nervous system disease|Wounds and injuries Radiation induced meningioma MESH:C536266 OMIM:606190 MESH:D008579|MESH:D009381 C04.557.580.520/C536266|C04.557.645.520/C536266|C04.588.614.250.580.500/C536266|C04.682/C536266|C10.551.240.500.500/C536266|C26.733.476/C536266 C04.557.580.520|C04.557.645.520|C04.588.614.250.580.500|C04.682|C10.551.240.500.500|C26.733.476 Meningioma, Radiation Induced|MENINGIOMA, RADIATION-INDUCED|MNRI Cancer|Nervous system disease|Wounds and injuries Radiation Injuries MESH:D011832 Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES. MESH:D014947 C26.733 C26 Injuries, Radiation|Injury, Radiation|Radiation Injury|Radiation Sickness|Radiation Sicknesses|Radiation Syndrome|Radiation Syndromes|Sicknesses, Radiation|Sickness, Radiation|Syndrome, Radiation|Syndromes, Radiation Wounds and injuries Radiation Injuries, Experimental MESH:D011833 Experimentally produced harmful effects of ionizing or non-ionizing RADIATION in CHORDATA animals. MESH:D011832 C26.733.720 C26.733 Experimental Radiation Injuries|Experimental Radiation Injury|Injuries, Experimental Radiation|Radiation Injury, Experimental Wounds and injuries Radiation Pneumonitis MESH:D017564 Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation. MESH:D011832|MESH:D017563|MESH:D055370 C08.381.483.675|C08.381.520.734|C26.733.762 C08.381.483|C08.381.520|C26.733 Pneumonia, Radiation|Pneumonitis, Radiation|Radiation Pneumonia Respiratory tract disease|Wounds and injuries Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant MESH:C565326 OMIM:605463 MESH:D019636|MESH:D043171 C10.574/C565326|C23.550.210.110/C565326|C23.550.362.180/C565326 C10.574|C23.550.210.110|C23.550.362.180 RADIATION SENSITIVITY/CHROMOSOME INSTABILITY SYNDROME, AUTOSOMAL DOMINANT Nervous system disease|Pathology (process) Radiation Sensitivity of Natural Killer Activity MESH:C564066 MESH:D007154|MESH:D040181 C16.320.322/C564066|C20/C564066 C16.320.322|C20 X-Ray NK Sensitivity Genetic disease (inborn)|Immune system disease Radicular Cyst MESH:D011842 Slow-growing fluid-filled epithelial sac at the apex of a tooth with a nonvital pulp or defective root canal filling. MESH:D010483|MESH:D010509 C04.182.089.530.690.790.820|C05.500.470.690.790.820|C07.320.450.670.513.811|C07.320.830.820|C07.465.714.306.820 C04.182.089.530.690.790|C05.500.470.690.790|C07.320.450.670.513|C07.320.830|C07.465.714.306 Apical Periodontal Cyst|Apical Periodontal Cysts|Cyst, Apical Periodontal|Cyst, Periapical|Cyst, Radicular|Cysts, Apical Periodontal|Cysts, Periapical|Cysts, Radicular|Periapical Cyst|Periapical Cysts|Periodontal Cyst, Apical|Periodontal Cysts, Apical|Radicular Cysts Cancer|Mouth disease|Musculoskeletal disease Radiculoneuropathy, Fatal Neonatal MESH:C564857 MESH:D011129 C10.114.750/C564857|C10.314.750/C564857|C10.668.829.800.750/C564857|C20.111.258.750/C564857 C10.114.750|C10.314.750|C10.668.829.800.750|C20.111.258.750 Immune system disease|Nervous system disease Radiculopathy MESH:D011843 DO:DOID:4306 Disease involving a spinal nerve root (see SPINAL NERVE ROOTS) which may result from compression related to INTERVERTEBRAL DISK DISPLACEMENT; SPINAL CORD INJURIES; SPINAL DISEASES; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root. MESH:D010523 C10.668.829.820 C10.668.829 Avulsion, Nerve Root|Avulsions, Nerve Root|Cervical Radiculopathies|Cervical Radiculopathy|Compression, Nerve Root|Compressions, Nerve Root|Inflammation, Nerve Root|Nerve Root Avulsion|Nerve Root Avulsions|Nerve Root Compression|Nerve Root Compressions|Nerve Root Disorder|Nerve Root Disorders|Nerve Root Inflammation|Nerve Root Inflammations|Radiculitides|Radiculitis|Radiculopathies|Radiculopathies, Cervical|Radiculopathy, Cervical Nervous system disease Radiodermatitis MESH:D011855 A cutaneous inflammatory reaction occurring as a result of exposure to ionizing radiation. MESH:D003872|MESH:D011832 C17.800.174.826|C26.733.804 C17.800.174|C26.733 Dermatitides, Radiation-Induced|Dermatitides, Radiation Recall|Dermatitis, Radiation Induced|Dermatitis, Radiation-Induced|Dermatitis, Radiation Recall|Radiation-Induced Dermatitides|Radiation Induced Dermatitis|Radiation-Induced Dermatitis|Radiation Recall Dermatitides|Radiation Recall Dermatitis|Radiation Recall Reaction|Radiation Recall Reactions|Radiodermatitides|Reaction, Radiation Recall|Reactions, Radiation Recall|Recall Reaction, Radiation|Recall Reactions, Radiation Skin disease|Wounds and injuries Radio renal syndrome MESH:C536267 MESH:D007674|MESH:D038062 C05.660.585.988/C536267|C12.050.351.968.419/C536267|C12.200.777.419/C536267|C12.950.419/C536267|C16.131.621.585.988/C536267 C05.660.585.988|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.621.585.988 Radio-renal syndrome Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Radioulnar Synostosis MESH:C562408 DO:DOID:9827 MESH:D013580 C05.116.099.370.894/C562408|C05.660.906/C562408|C16.131.621.906/C562408 C05.116.099.370.894|C05.660.906|C16.131.621.906 Congenital abnormality|Musculoskeletal disease Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male MESH:C564557 MESH:D013580 C05.116.099.370.894/C564557|C05.660.906/C564557|C16.131.621.906/C564557 C05.116.099.370.894|C05.660.906|C16.131.621.906 Congenital abnormality|Musculoskeletal disease Radioulnar synostosis retinal pigment abnormalities MESH:C536270 MESH:D006130|MESH:D008607|MESH:D012174|MESH:D013580|MESH:D019066 C05.116.099.370.894/C536270|C05.660.906/C536270|C10.597.606.360/C536270|C11.270.684/C536270|C11.768.585.658.500/C536270|C16.131.621.906/C536270|C16.320.290.684/C536270|C23.550.291.812/C536270|C23.550.393/C536270|C23.888.592.604.646/C536270|F03.625.539/C536270 C05.116.099.370.894|C05.660.906|C10.597.606.360|C11.270.684|C11.768.585.658.500|C16.131.621.906|C16.320.290.684|C23.550.291.812|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Radio-ulnar synostosis type 1 MESH:C536268 MESH:D000015|MESH:D005532|MESH:D006228|MESH:D013576 C05.116.099.370.894.819/C536268|C05.330.495/C536268|C05.390.408/C536268|C05.660.585.512.380/C536268|C05.660.585.800/C536268|C05.660.585.988.425/C536268|C05.660.906.819/C536268|C16.131.077/C536268|C16.131.621.585.512.500/C536268|C16.131.621.585.800/C536268|C16.131.621.585.988.500/C536268|C16.131.621.906.819/C536268 C05.116.099.370.894.819|C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.800|C05.660.585.988.425|C05.660.906.819|C16.131.077|C16.131.621.585.512.500|C16.131.621.585.800|C16.131.621.585.988.500|C16.131.621.906.819 Congenital radio-ulnar synostosis Congenital abnormality|Musculoskeletal disease Radio-ulnar synostosis type 2 MESH:C536269 MESH:D000015|MESH:D005532|MESH:D006228|MESH:D013576 C05.116.099.370.894.819/C536269|C05.330.495/C536269|C05.390.408/C536269|C05.660.585.512.380/C536269|C05.660.585.800/C536269|C05.660.585.988.425/C536269|C05.660.906.819/C536269|C16.131.077/C536269|C16.131.621.585.512.500/C536269|C16.131.621.585.800/C536269|C16.131.621.585.988.500/C536269|C16.131.621.906.819/C536269 C05.116.099.370.894.819|C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.800|C05.660.585.988.425|C05.660.906.819|C16.131.077|C16.131.621.585.512.500|C16.131.621.585.800|C16.131.621.585.988.500|C16.131.621.906.819 Congenital abnormality|Musculoskeletal disease Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia MESH:C564856 MESH:D002658|MESH:D009123|MESH:D013580 C05.116.099.370.894/C564856|C05.660.906/C564856|C10.597.613.575/C564856|C16.131.621.906/C564856|C23.888.592.608.575/C564856|F03.625.421/C564856 C05.116.099.370.894|C05.660.906|C10.597.613.575|C16.131.621.906|C23.888.592.608.575|F03.625.421 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia MESH:C565328 OMIM:605432 MESH:D013580|MESH:D013921 C05.116.099.370.894/C565328|C05.660.906/C565328|C15.378.140.855/C565328|C16.131.621.906/C565328 C05.116.099.370.894|C05.660.906|C15.378.140.855|C16.131.621.906 CTRUS|RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1|RUSAT|RUSAT1|THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS Blood disease|Congenital abnormality|Musculoskeletal disease Radius absent anogenital anomalies MESH:C535281 MESH:D001848|MESH:D006849|MESH:D007021|MESH:D040181 C05.116.099/C535281|C10.228.140.602/C535281|C12.050.351.875.466/C535281|C12.100.500.494.400/C535281|C12.200.294.494.400/C535281|C12.200.706.516/C535281|C12.800.516/C535281|C16.131.939.516/C535281|C16.320.322/C535281 C05.116.099|C10.228.140.602|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.939.516|C16.320.322 Radial Aplasia And Anogenital Anomalies|Radial aplasia, X-linked Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Radius Fractures MESH:D011885 Fractures of the RADIUS. MESH:D005543|MESH:D050723 C26.088.268.556|C26.404.562 C26.088.268|C26.404 Dislocation, Galeazzi Fracture|Fracture Dislocation, Galeazzi|Fracture, Galeazzi|Fracture, Radial|Fracture, Radius|Galeazzi Fracture|Galeazzi Fracture Dislocation|Radial Fracture|Radial Fractures|Radius Fracture Wounds and injuries RAFIQ SYNDROME OMIM:614202 DO:DOID:0081097 MESH:D008607 C10.597.606.360/614202|C23.888.592.604.646/614202|F03.625.539/614202 C10.597.606.360|C23.888.592.604.646|F03.625.539 CDG2U|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, FORMERLY|MRT15, FORMERLY|RAFQS Mental disorder|Nervous system disease|Signs and symptoms Ragweed Sensitivity MESH:C566725 OMIM:179450 MESH:D006969 C20.543.480/C566725 C20.543.480 Immune system disease Raindrop Hypopigmentation MESH:C566724 MESH:D017496 C17.800.621.440/C566724 C17.800.621.440 Skin disease Raine syndrome MESH:C535282 OMIM:259775 MESH:D000015|MESH:D002972|MESH:D005094|MESH:D008831|MESH:D010026 C05.116.099.708.702/C535282|C05.500.460.185/C535282|C05.660.207.540.460.185/C535282|C05.660.207.620/C535282|C07.320.440.185/C535282|C07.465.525.185/C535282|C07.650.500.460.185/C535282|C07.650.525.185/C535282|C10.500.507.400.500/C535282|C11.675.349/C535282|C16.131.077/C535282|C16.131.621.207.540.460.185/C535282|C16.131.621.207.620/C535282|C16.131.666.507.400.500/C535282|C16.131.850.500.460.185/C535282|C16.131.850.525.185/C535282 C05.116.099.708.702|C05.500.460.185|C05.660.207.540.460.185|C05.660.207.620|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.500.507.400.500|C11.675.349|C16.131.077|C16.131.621.207.540.460.185|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.850.500.460.185|C16.131.850.525.185 CSOCC|Lethal osteosclerotic bone dysplasia|Osteomalacia, Sclerosing, with Cerebral Calcification|Osteosclerotic Bone Dysplasia, Lethal|RNS Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 OMIM:613658 MESH:D001927|MESH:D002114|MESH:D002658|MESH:D006130|MESH:D008831|MESH:D017563 C05.660.207.620/613658|C08.381.483/613658|C10.228.140/613658|C10.500.507.400.500/613658|C16.131.621.207.620/613658|C16.131.666.507.400.500/613658|C18.452.174.130/613658|C23.550.393/613658|F03.625.421/613658 C05.660.207.620|C08.381.483|C10.228.140|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C18.452.174.130|C23.550.393|F03.625.421 DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS, FORMERLY|NEDBLLA, FORMERLY|NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES, FORMERLY|RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS|RAJAB SYNDROME|RILDBC|RILDBC1 Congenital abnormality|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Respiratory tract disease Rambaud Galian syndrome MESH:C535283 MESH:D001927|MESH:D002114|MESH:D006819|MESH:D007511|MESH:D012164 C08.381.840.500.475/C535283|C08.618.840.500.475/C535283|C10.228.140/C535283|C11.768/C535283|C16.614.521.563.475/C535283|C18.452.174.130/C535283|C23.550.513/C535283 C08.381.840.500.475|C08.618.840.500.475|C10.228.140|C11.768|C16.614.521.563.475|C18.452.174.130|C23.550.513 Eye disease|Infant-newborn disease|Metabolic disease|Nervous system disease|Pathology (process)|Respiratory tract disease Ramer Ladda syndrome MESH:C535284 DO:DOID:0060467 MESH:D013580 C05.116.099.370.894/C535284|C05.660.906/C535284|C16.131.621.906/C535284 C05.116.099.370.894|C05.660.906|C16.131.621.906 Humero-radial synostosis|Humeroradial Synostosis Congenital abnormality|Musculoskeletal disease Ramon Syndrome MESH:C535285 MESH:D002636|MESH:D004827|MESH:D005351|MESH:D006130|MESH:D006983|MESH:D008607 C05.116.099.708.375.199/C535285|C05.500.174/C535285|C07.320.173/C535285|C07.465.525.304/C535285|C07.465.714.258.428.200/C535285|C07.650.525.304/C535285|C10.228.140.490/C535285|C10.597.606.360/C535285|C16.131.621.207.540.170/C535285|C16.131.850.525.304/C535285|C16.320.170/C535285|C17.800.329.875/C535285|C23.550.393/C535285|C23.888.592.604.646/C535285|F03.625.539/C535285 C05.116.099.708.375.199|C05.500.174|C07.320.173|C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C10.228.140.490|C10.597.606.360|C16.131.621.207.540.170|C16.131.850.525.304|C16.320.170|C17.800.329.875|C23.550.393|C23.888.592.604.646|F03.625.539 Gingival fibromatosis combined with cherubism Congenital abnormality|Genetic disease (inborn)|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Ramos Arroyo Clark syndrome MESH:C535286 MESH:D000015|MESH:D003316|MESH:D003638|MESH:D004374|MESH:D008607|MESH:D012164|MESH:D019066 C09.218.458.341.186/C535286|C10.597.606.360/C535286|C10.597.751.418.341.186/C535286|C11.204/C535286|C11.768/C535286|C14.240.400.340/C535286|C14.280.400.340/C535286|C16.131.077/C535286|C16.131.240.400.340/C535286|C23.550.291.812/C535286|C23.888.592.604.646/C535286|C23.888.592.763.393.341.186/C535286|F03.625.539/C535286 C09.218.458.341.186|C10.597.606.360|C10.597.751.418.341.186|C11.204|C11.768|C14.240.400.340|C14.280.400.340|C16.131.077|C16.131.240.400.340|C23.550.291.812|C23.888.592.604.646|C23.888.592.763.393.341.186|F03.625.539 Ramos Arroyo Syndrome Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Ranula MESH:D011900 A form of retention cyst of the floor of the mouth, usually due to obstruction of the ducts of the submaxillary or sublingual glands, presenting a slowly enlarging painless deep burrowing mucocele of one side of the mouth. It is also called sublingual cyst and sublingual ptyalocele. MESH:D003560|MESH:D009059 C04.182.766|C07.465.780 C04.182|C07.465 Ranulas Cancer|Mouth disease Rapadilino syndrome MESH:C535288 DO:DOID:0050774|OMIM:266280 MESH:D004392|MESH:D006344|MESH:D011038|MESH:D017880 C05.116.099.343/C535288|C05.660.585/C535288|C14.240.400.560.375/C535288|C14.280.400.560.375/C535288|C16.131.240.400.560.375/C535288|C16.131.621.585/C535288|C16.131.831.775/C535288|C16.320.240/C535288|C16.320.850.765/C535288|C16.614.760/C535288|C17.800.804.775/C535288|C17.800.827.775/C535288|C18.452.284.760/C535288|C19.297/C535288 C05.116.099.343|C05.660.585|C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375|C16.131.621.585|C16.131.831.775|C16.320.240|C16.320.850.765|C16.614.760|C17.800.804.775|C17.800.827.775|C18.452.284.760|C19.297 Radial and patellar aplasia|Radial and patellar hypoplasia Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Musculoskeletal disease|Skin disease Rapidly progressive glomerulonephritis with pulmonary hemorrhage MESH:C538458 MESH:D005921|MESH:D006470|MESH:D008171 C08.381/C538458|C12.050.351.968.419.570.363/C538458|C12.200.777.419.570.363/C538458|C12.950.419.570.363/C538458|C23.550.414/C538458 C08.381|C12.050.351.968.419.570.363|C12.200.777.419.570.363|C12.950.419.570.363|C23.550.414 Anti-glomerular basement membrane antibody disease|Glomerulonephritis - pulmonary hemorrhage|Pulmonary renal syndrome Pathology (process)|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Rapp-Hodgkin syndrome MESH:C535289 DO:DOID:0060330|DO:DOID:0090119|OMIM:129400 MESH:D002971|MESH:D002972|MESH:D004476 C05.500.460.185/C535289|C05.660.207.540.460.185/C535289|C07.320.440.185/C535289|C07.465.409.225/C535289|C07.465.525.164/C535289|C07.465.525.185/C535289|C07.650.500.460.185/C535289|C07.650.525.164/C535289|C07.650.525.185/C535289|C16.131.077.350/C535289|C16.131.621.207.540.460.185/C535289|C16.131.831.350/C535289|C16.131.850.500.460.185/C535289|C16.131.850.525.164/C535289|C16.131.850.525.185/C535289|C16.320.850.250/C535289|C17.800.804.350/C535289|C17.800.827.250/C535289 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.077.350|C16.131.621.207.540.460.185|C16.131.831.350|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.320.850.250|C17.800.804.350|C17.800.827.250 Ectodermal dysplasia, anhidrotic, with cleft lip-palate|ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE|RHS Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Rare Diseases MESH:D035583 A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment. MESH:D020969 C23.550.291.906 C23.550.291 Disease, Orphan|Disease, Rare|Orphan Disease|Orphan Diseases|Rare Disease Pathology (process) Rasmussen Johnsen Thomsen syndrome MESH:C535290 MESH:D000015|MESH:D006972 C05.116.099.370.231.480/C535290|C05.660.207.231.480/C535290|C16.131.077/C535290|C16.131.621.207.231.480/C535290 C05.116.099.370.231.480|C05.660.207.231.480|C16.131.077|C16.131.621.207.231.480 Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance Congenital abnormality|Musculoskeletal disease Rasmussen subacute encephalitis MESH:C535291 MESH:D004660|MESH:D007249 C10.228.140.430/C535291|C10.586.250/C535291|C23.550.470/C535291 C10.228.140.430|C10.586.250|C23.550.470 Subacute focal encephalitis of Rasmussen Nervous system disease|Pathology (process) Rat-Bite Fever MESH:D011906 DO:DOID:12096 A syndrome characterized by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either Streptobacillus moniliformis or Spirillum minus. MESH:D016905 C01.150.252.400.771 C01.150.252.400 Endocarditides, Streptobacillus moniliformis|Endocarditis, Streptobacillus moniliformis|Fever, Haverhill|Fever, Ratbite|Fever, Rat-Bite|Fevers, Ratbite|Fevers, Rat-Bite|Haverhill Fever|Infection, Spirillum minus|Infections, Spirillum minus|Infections, Streptobacillus moniliformis|Infection, Streptobacillus moniliformis|Ratbite Fever|Rat Bite Fever|Ratbite Fevers|Rat-Bite Fevers|Sodoku|Spirillum minus Infection|Spirillum minus Infections|Streptobacillus moniliformis Endocarditides|Streptobacillus moniliformis Endocarditis|Streptobacillus moniliformis Infection|Streptobacillus moniliformis Infections Bacterial infection or mycosis RAYNAUD-CLAES SYNDROME OMIM:300114 DO:DOID:0112060 MESH:D038901 C10.597.606.360.455/300114|C16.320.322.500/300114|C16.320.400.525/300114 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 MENTAL RETARDATION, X-LINKED 15|MENTAL RETARDATION, X-LINKED 49|MRX15|MRX49|MRXSRC Genetic disease (inborn)|Nervous system disease Raynaud Disease MESH:D011928 DO:DOID:10300 An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress. MESH:D000090122|MESH:D016491 C14.907.355.830.573.750|C14.907.617.812|C17.800.862.406.750 C14.907.355.830.573|C14.907.617|C17.800.862.406 Cold Fingers, Hereditary|Raynaud Phenomenon|Raynaud's Disease|Raynauds Disease Cardiovascular disease|Skin disease Ray Peterson Scott syndrome MESH:C535292 MESH:D001176|MESH:D005317|MESH:D005532 C05.330.495/C535292|C05.550.150/C535292|C05.651.102/C535292|C05.660.077/C535292|C05.660.585.512.380/C535292|C12.050.703.277.370/C535292|C16.131.621.077/C535292|C16.131.621.585.512.500/C535292|C16.300.390/C535292|C23.550.393.450/C535292 C05.330.495|C05.550.150|C05.651.102|C05.660.077|C05.660.585.512.380|C12.050.703.277.370|C16.131.621.077|C16.131.621.585.512.500|C16.300.390|C23.550.393.450 Pelvic dysplasia associated with arthrogrypotic changes in the lower extremities|Pelvic hypoplasia, and arthrogrypotic changes in the lower limbs Congenital abnormality|Fetal disease|Musculoskeletal disease|Pathology (process)|Pregnancy complication RDS - infants MESH:C538359 MESH:D012127 C08.381.840.500/C538359|C08.618.840.500/C538359|C16.614.521.563/C538359 C08.381.840.500|C08.618.840.500|C16.614.521.563 Infant-newborn disease|Respiratory tract disease Reactive angioendotheliomatosis MESH:C535293 MESH:D006390|MESH:D012878 C04.557.645.375.370/C535293|C04.588.805/C535293|C17.800.882/C535293 C04.557.645.375.370|C04.588.805|C17.800.882 Cancer|Skin disease Reactive Attachment Disorder MESH:D019962 Markedly disturbed and developmentally inappropriate social relatedness that begins before age 5 and is associated with grossly pathological child care. The child may persistently fail to initiate and respond to social interactions in a developmentally appropriate way (inhibited type) or there may be a pattern of diffuse attachments with nondiscriminate sociability (disinhibited type). (From DSM-V) MESH:D065886 F03.625.937 F03.625 Attachment Disorder, Reactive|Attachment Disorders, Reactive|Disorder, Reactive Attachment|Disorders, Reactive Attachment|Reactive Attachment Disorders Mental disorder Reardon Hall Slaney syndrome MESH:C535294 MESH:D002972|MESH:D017880|MESH:D019465 C05.500.460.185/C535294|C05.660.207.540.460.185/C535294|C05.660.207/C535294|C05.660.585/C535294|C07.320.440.185/C535294|C07.465.525.185/C535294|C07.650.500.460.185/C535294|C07.650.525.185/C535294|C16.131.621.207.540.460.185/C535294|C16.131.621.207/C535294|C16.131.621.585/C535294|C16.131.850.500.460.185/C535294|C16.131.850.525.185/C535294 C05.500.460.185|C05.660.207|C05.660.207.540.460.185|C05.660.585|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.621.207|C16.131.621.207.540.460.185|C16.131.621.585|C16.131.850.500.460.185|C16.131.850.525.185 Congenital abnormality|Mouth disease|Musculoskeletal disease Reardon Wilson Cavanagh syndrome MESH:C535295 MESH:D001259|MESH:D006130|MESH:D008607|MESH:D034381 C09.218.458.341/C535295|C10.597.350.090/C535295|C10.597.606.360/C535295|C10.597.751.418.341/C535295|C23.550.393/C535295|C23.888.592.350.090/C535295|C23.888.592.604.646/C535295|C23.888.592.763.393.341/C535295|F03.625.539/C535295 C09.218.458.341|C10.597.350.090|C10.597.606.360|C10.597.751.418.341|C23.550.393|C23.888.592.350.090|C23.888.592.604.646|C23.888.592.763.393.341|F03.625.539 Ataxia-deafness-retardation syndrome|Ataxia, hearing loss, and mental retardation|Familial ataxia, deafness, and developmental delay Ear-nose-throat disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Recombinant chromosome 8 syndrome MESH:C535296 MESH:D025063 C16.131.260/C535296|C16.320.180/C535296 C16.131.260|C16.320.180 Rec(8) Syndrome|Recombinant 8 Syndrome|San Luis Valley recombinant chromosome 8 syndrome|San Luis Valley syndrome Congenital abnormality|Genetic disease (inborn) Rectal Diseases MESH:D012002 DO:DOID:1285 Pathological developments in the RECTUM region of the large intestine (INTESTINE, LARGE). MESH:D007410 C06.405.469.860 C06.405.469 Anorectal Disease|Anorectal Diseases|Anorectal Disorder|Anorectal Disorders|Rectal Disease|Rectal Disorder|Rectal Disorders Digestive system disease Rectal Fistula MESH:D012003 DO:DOID:0060328 An abnormal anatomical passage connecting the RECTUM to the outside, with an orifice at the site of drainage. MESH:D007412|MESH:D012002 C06.267.550.600|C06.405.469.471.600|C06.405.469.860.752|C23.300.575.185.550.600 C06.267.550|C06.405.469.471|C06.405.469.860|C23.300.575.185.550 Anal Fistula|Fistula, Rectal Digestive system disease|Pathology (anatomical condition) Rectal Neoplasms MESH:D012004 DO:DOID:1984|DO:DOID:1993 Tumors or cancer of the RECTUM. MESH:D015179 C04.588.274.476.411.307.790|C06.301.371.411.307.790|C06.405.249.411.307.790|C06.405.469.491.307.790|C06.405.469.860.180.500 C04.588.274.476.411.307|C06.301.371.411.307|C06.405.249.411.307|C06.405.469.491.307|C06.405.469.860.180 Cancer of Rectum|Cancer of the Rectum|Cancer, Rectal|Cancer, Rectum|Neoplasm, Rectal|Neoplasm, Rectum|Neoplasms, Rectal|Rectal Cancer|Rectal Cancers|Rectal Neoplasm|Rectal Tumor|Rectal Tumors|Rectum Cancer|Rectum Cancers|Rectum Neoplasm|Rectum Neoplasms|Tumor, Rectal Cancer|Digestive system disease Rectal Prolapse MESH:D012005 DO:DOID:9307 Protrusion of the rectal mucous membrane through the anus. There are various degrees: incomplete with no displacement of the anal sphincter muscle; complete with displacement of the anal sphincter muscle; complete with no displacement of the anal sphincter muscle but with herniation of the bowel; and internal complete with rectosigmoid or upper rectum intussusception into the lower rectum. MESH:D012002|MESH:D056887 C06.405.469.860.800|C23.300.842.624.500 C06.405.469.860|C23.300.842.624 Anus Prolapse|Anus Prolapses|Prolapse, Anus|Prolapse, Rectal|Prolapses, Anus|Prolapses, Rectal|Rectal Prolapses Digestive system disease|Pathology (anatomical condition) Rectocele MESH:D020047 Herniation of the RECTUM into the VAGINA. MESH:D006547|MESH:D012002 C06.405.469.860.810|C23.300.707.984 C06.405.469.860|C23.300.707 Proctocele|Proctoceles|Rectoceles Digestive system disease|Pathology (anatomical condition) Rectovaginal Fistula MESH:D012006 An abnormal anatomical passage between the RECTUM and the VAGINA. MESH:D012003|MESH:D014624 C06.267.550.600.650|C06.405.469.471.600.650|C06.405.469.860.752.650|C12.050.351.500.894.767.249|C12.100.250.894.767.249|C23.300.575.185.550.600.650|C23.300.575.925.558 C06.267.550.600|C06.405.469.471.600|C06.405.469.860.752|C12.050.351.500.894.767|C12.100.250.894.767|C23.300.575.185.550.600|C23.300.575.925 Fistula, Rectovaginal|Fistulas, Rectovaginal|Rectovaginal Fistulas Digestive system disease|Pathology (anatomical condition)|Urogenital disease (female) Recurrence MESH:D012008 The return of a sign, symptom, or disease after a remission. MESH:D020969 C23.550.291.937 C23.550.291 Recrudescence|Recrudescences|Recurrences|Relapse|Relapses Pathology (process) Recurrent Laryngeal Nerve Injuries MESH:D061226 Traumatic injuries to the RECURRENT LARYNGEAL NERVE that may result in vocal cord dysfunction. MESH:D061224 C08.360.424.500|C09.400.424.500|C10.292.200.937.750.500|C10.900.300.218.887.750.500|C26.915.300.400.912.750.500 C08.360.424|C09.400.424|C10.292.200.937.750|C10.900.300.218.887.750|C26.915.300.400.912.750 Recurrent Laryngeal Nerve Contusion|Recurrent Laryngeal Nerve Injury|Recurrent Laryngeal Nerve Transection|Recurrent Laryngeal Nerve Trauma|Recurrent Laryngeal Neuropathy, Traumatic Ear-nose-throat disease|Nervous system disease|Respiratory tract disease|Wounds and injuries Recurrent respiratory papillomatosis MESH:C535297 MESH:D012141|MESH:D030361 C01.221.812.640.700/C535297|C01.748/C535297|C01.778.640.700/C535297|C01.925.256.650/C535297|C01.925.813.700/C535297|C01.925.928.725/C535297|C08.730/C535297|C12.100.937.640.700/C535297|C23.550.291.531.937.640.500/C535297 C01.221.812.640.700|C01.748|C01.778.640.700|C01.925.256.650|C01.925.813.700|C01.925.928.725|C08.730|C12.100.937.640.700|C23.550.291.531.937.640.500 Juvenile laryngeal papilloma|Juvenile-onset recurrent respiratory papillomatosis|Laryngeal papilloma, recurrent|Respiratory papillomatosis Pathology (process)|Respiratory tract disease|Viral disease Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum MESH:C559045 MESH:D007035|MESH:D061085 C10.500.034/C559045|C16.131.666.034/C559045|C23.300.008/C559045|C23.888.119.565/C559045 C10.500.034|C16.131.666.034|C23.300.008|C23.888.119.565 Congenital abnormality|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Recurrent trigger thumb MESH:C538662 MESH:D052582 C05.651.869.816.800/C538662 C05.651.869.816.800 Bilateral trigger thumb|Congenital trigger thumb Musculoskeletal disease Red-Cell Aplasia, Pure MESH:D012010 DO:DOID:1340 Suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. MESH:D000740 C15.378.071.750 C15.378.071 Aplasia, Erythrocyte|Aplasia Pure Red Cell|Aplasia, Pure Red-Cell|Aplasias, Erythrocyte|Erythrocyte Aplasia|Erythrocyte Aplasias|Pure Red Cell Aplasia|Pure Red-Cell Aplasia|Pure Red-Cell Aplasias|Red Cell Aplasia, Pure|Red-Cell Aplasias, Pure Blood disease Red cell phospholipid defect with hemolysis MESH:C535298 MESH:D000745|MESH:D006461 C15.378.071.141.150/C535298|C16.320.070/C535298|C23.550.403/C535298 C15.378.071.141.150|C16.320.070|C23.550.403 High red cell phosphatidylcholine hemolytic anemia|Leaky Red cell syndrome|Phosphatidylcholine Red cell membrane disorder Blood disease|Genetic disease (inborn)|Pathology (process) red meat allergy MESH:C000655084 MESH:D005512 C20.543.480.370/C000655084 C20.543.480.370 alpha-gal allergy|alpha-gal sensitization|alpha-gal syndrome|galactose-alpha-1,3-galactose allergy|galactose-alpha-1,3-galactose sensitization|galactose-α-1,3-galactose allergy|galactose-α-1,3-galactose sensitization|mammalian meat allergy|red meat sensitization|α-gal allergy|α-gal sensitization|α-gal syndrome Immune system disease Red skin pigment anomaly of New Guinea MESH:C535515 MESH:D010859 C17.800.621/C535515|C23.550.755/C535515 C17.800.621|C23.550.755 Red skin pigment, New Guinea type Pathology (process)|Skin disease Reese Retinal Dysplasia MESH:C564854 MESH:D015792 C11.250.666/C564854|C11.270.660/C564854|C11.768.660/C564854|C16.131.384.784/C564854|C16.320.290.660/C564854 C11.250.666|C11.270.660|C11.768.660|C16.131.384.784|C16.320.290.660 Congenital abnormality|Eye disease|Genetic disease (inborn) Refeeding Syndrome MESH:D055677 A condition of metabolic imbalance that is caused by complications of initially feeding a severely malnourished patient too aggressively. Usually occurring within the first 5 days of refeeding, this syndrome is characterized by WATER-ELECTROLYTE IMBALANCE; GLUCOSE INTOLERANCE; CARDIAC ARRHYTHMIAS; and DIARRHEA. MESH:D044342 C18.654.521.687 C18.654.521 Syndrome, Refeeding Nutrition disorder Reflex, Abnormal MESH:D012021 OMIM:145290 An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes. MESH:D009461 C10.597.704|C23.888.592.717 C10.597|C23.888.592 Abnormal Deep Tendon Reflex|Abnormal Reflex|Abnormal Reflexes|Absent Reflex|Bulbocavernosus Reflex, Decreased|Bulbocavernousus Reflex Absent|Decreased Bulbocavernosus Reflex|Decreased Reflex|Hoffman's Reflex|HRX|Hyperreflexia|Hyporeflexia|Palmo Mental Reflex|Palmo-Mental Reflex|Pendular Reflex|Reflex, Absent|Reflex Absent, Bulbocavernousus|Reflex, Acoustic, Abnormal|Reflex, Anal, Absent|Reflex, Anal, Decreased|Reflex, Ankle, Abnormal|Reflex, Ankle, Absent|Reflex, Ankle, Decreased|Reflex, Biceps, Abnormal|Reflex, Biceps, Absent|Reflex, Biceps, Decreased|Reflex, Corneal, Absent|Reflex, Corneal, Decreased|Reflex, Decreased|Reflex, Decreased Bulbocavernosus|Reflex, Deep Tendon, Abnormal|Reflex, Deep Tendon, Absent|Reflexes, Abnormal|Reflex, Gag, Absent|Reflex, Gag, Decreased|Reflex, Hoffman's|Reflex, Knee, Abnormal|Reflex, Knee, Decreased|Reflex, Moro, Asymmetric|Reflex, Palmo-Mental|Reflex, Pendular|Reflex, Triceps, Abnormal|Reflex, Triceps, Absent|Reflex, Triceps, Decreased Nervous system disease|Signs and symptoms Reflex Sympathetic Dystrophy MESH:D012019 DO:DOID:1811 A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33) MESH:D020918 C10.177.195.800|C10.668.829.250.800 C10.177.195|C10.668.829.250 Algodystrophic Syndrome|Algodystrophies|Algodystrophy|Atrophies, Sudek's|Atrophy, Sudek|Atrophy, Sudek's|Cervical Sympathetic Dystrophies|Cervical Sympathetic Dystrophy|Complex Regional Pain Syndrome, Type I|CRPS Type I|CRPS Type Is|Dystrophies, Cervical Sympathetic|Dystrophies, Reflex Sympathetic|Dystrophy, Cervical Sympathetic|Dystrophy, Reflex Sympathetic|Pain Syndrome Type I, Complex Regional|Pain Syndrome Type I, Regional, Complex|Reflex Dystrophia, Sympathetic|Reflex Sympathetic Dystrophies|Reflex Sympathetic Dystrophy Syndrome|RSD (Reflex Sympathetic Dystrophy)|RSDs (Reflex Sympathetic Dystrophy)|Shoulder Hand Syndrome|Shoulder-Hand Syndrome|Shoulder-Hand Syndromes|Sudek Atrophy|Sudek's Atrophies|Sudek's Atrophy|Sudeks Atrophy|Sympathetic Dystrophies, Cervical|Sympathetic Dystrophies, Reflex|Sympathetic Dystrophy, Cervical|Sympathetic Dystrophy, Reflex|Sympathetic Reflex Dystrophia|Sympathetic Reflex Dystrophias|Syndrome, Algodystrophic|Syndrome, Reflex Sympathetic Dystrophy|Syndrome, Shoulder-Hand|Syndromes, Shoulder-Hand|Type I Complex Regional Pain Syndrome|Type I, CRPS Nervous system disease Refractive Errors MESH:D012030 DO:DOID:9835 Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus. MESH:D005128 C11.744 C11 Ametropia|Ametropias|Disorder, Refractive|Disorders, Refractive|Error, Refractive|Errors, Refractive|Refractive Disorder|Refractive Disorders|Refractive Error Eye disease Refsum Disease MESH:D012035 DO:DOID:10582|OMIM:266500 An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES. MESH:D015417|MESH:D018901|MESH:D020739 C10.228.140.163.100.813|C10.500.300.780|C10.574.500.495.780|C10.668.829.800.300.780|C16.131.666.300.780|C16.320.400.375.780|C16.320.565.189.813|C16.320.565.663.760|C18.452.132.100.813|C18.452.648.189.813|C18.452.648.663.760 C10.228.140.163.100|C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375|C16.320.565.189|C16.320.565.663|C18.452.132.100|C18.452.648.189|C18.452.648.663 Adult Refsum Disease|Adult Refsum Diseases|Classic Refsum Disease|Classic Refsum Diseases|Disease, Adult Refsum|Disease, Classic Refsum|Disease, Refsum|Disease, Refsum's|Diseases, Adult Refsum|Diseases, Classic Refsum|Hemeralopia Heredoataxia Polyneuritiformis|Hereditary Motor And Sensory Neuropathy IV|Hereditary Motor and Sensory Neuropathy Type IV|Hereditary Motor and Sensory Neuropathy, Type IV|Hereditary Type IV Motor and Sensory Neuropathy|Heredoataxia Polyneuritiformis, Hemeralopia|Heredopathia Atactica Polyneuritiformis|HMSN 4|HMSN4|HMSN IV|HMSN IVs|HMSN Type IV|Neuropathy, Hereditary Motor and Sensory, Type IV|Phytanic Acid Oxidase Deficiency|Phytanic Acid Storage Disease|Polyneuritiformis, Hemeralopia Heredoataxia|Polyneuritiformis, Heredopathia Atactica|Refsum Disease, Adult|REFSUM DISEASE, ADULT, 1|Refsum Disease, Classic|Refsum Disease, Phytanic Acid Oxidase Deficiency|Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency|Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency|Refsum Diseases, Adult|Refsum Diseases, Classic|Refsum's Disease|Refsums Disease|Refsum's Syndrome|Refsums Syndrome|Refsum Syndrome|Refsum Thiebaut Syndrome|Refsum-Thiebaut Syndrome|Refsum-Thiebaut Syndromes|Syndrome, Refsum|Syndrome, Refsum's|Syndrome, Refsum-Thiebaut|Syndromes, Refsum-Thiebaut Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease Refsum Disease, Adult, 1 MESH:C567602 MESH:D012035 C10.228.140.163.100.813/C567602|C10.500.300.780/C567602|C10.574.500.495.780/C567602|C10.668.829.800.300.780/C567602|C16.131.666.300.780/C567602|C16.320.400.375.780/C567602|C16.320.565.189.813/C567602|C16.320.565.663.760/C567602|C18.452.132.100.813/C567602|C18.452.648.189.813/C567602|C18.452.648.663.760/C567602 C10.228.140.163.100.813|C10.500.300.780|C10.574.500.495.780|C10.668.829.800.300.780|C16.131.666.300.780|C16.320.400.375.780|C16.320.565.189.813|C16.320.565.663.760|C18.452.132.100.813|C18.452.648.189.813|C18.452.648.663.760 Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease Refsum Disease, Adult, 2 MESH:C567603 MESH:D012035 C10.228.140.163.100.813/C567603|C10.500.300.780/C567603|C10.574.500.495.780/C567603|C10.668.829.800.300.780/C567603|C16.131.666.300.780/C567603|C16.320.400.375.780/C567603|C16.320.565.189.813/C567603|C16.320.565.663.760/C567603|C18.452.132.100.813/C567603|C18.452.648.189.813/C567603|C18.452.648.663.760/C567603 C10.228.140.163.100.813|C10.500.300.780|C10.574.500.495.780|C10.668.829.800.300.780|C16.131.666.300.780|C16.320.400.375.780|C16.320.565.189.813|C16.320.565.663.760|C18.452.132.100.813|C18.452.648.189.813|C18.452.648.663.760 Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Nervous system disease Refsum Disease, Infantile MESH:D052919 DO:DOID:0050444|OMIM:601539 An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES. MESH:D018901|MESH:D020739 C10.228.140.163.100.844|C16.320.565.189.844|C16.320.565.663.865|C18.452.132.100.844|C18.452.648.189.844|C18.452.648.663.865 C10.228.140.163.100|C16.320.565.189|C16.320.565.663|C18.452.132.100|C18.452.648.189|C18.452.648.663 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL|Disease, Infantile Refsum|Disease, Infantile Refsum's|Infantile Form of Phytanic Acid Storage Disease|Infantile Phytanic Acid Storage Disease|Infantile Refsum Disease|Infantile Refsum's Disease|Infantile Refsums Disease|PBD1B|PEROXISOME BIOGENESIS DISORDER 1B|PEROXISOME BIOGENESIS DISORDER (NALD/IRD)|PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)|REFSUM DISEASE, INFANTILE|Refsum Disease, Infantile Form|Refsum's Disease, Infantile|Refsums Disease, Infantile Genetic disease (inborn)|Metabolic disease|Nervous system disease Refsum disease with increased pipecolic acidemia MESH:C535517 MESH:D002658|MESH:D006529|MESH:D012035 C06.552.416/C535517|C10.228.140.163.100.813/C535517|C10.500.300.780/C535517|C10.574.500.495.780/C535517|C10.668.829.800.300.780/C535517|C16.131.666.300.780/C535517|C16.320.400.375.780/C535517|C16.320.565.189.813/C535517|C16.320.565.663.760/C535517|C18.452.132.100.813/C535517|C18.452.648.189.813/C535517|C18.452.648.663.760/C535517|C23.300.775.525/C535517|F03.625.421/C535517 C06.552.416|C10.228.140.163.100.813|C10.500.300.780|C10.574.500.495.780|C10.668.829.800.300.780|C16.131.666.300.780|C16.320.400.375.780|C16.320.565.189.813|C16.320.565.663.760|C18.452.132.100.813|C18.452.648.189.813|C18.452.648.663.760|C23.300.775.525|F03.625.421 Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Pathology (anatomical condition) Reginato Schiapachasse syndrome MESH:C535519 MESH:D010004 C05.116.725/C535519|C05.550.648/C535519|C16.320.718/C535519 C05.116.725|C05.550.648|C16.320.718 Genetic disease (inborn)|Musculoskeletal disease Reinfection MESH:D000084063 Infection by the same infectious agent following a recovery. Reinfection may be by a different strain or the same strain. MESH:D012008 C23.550.291.937.250 C23.550.291.937 Infection, Recurrent|Recurrent Infection|Recurrent Infections|Re infection|Re-infection|Re-infections|Reinfections Pathology (process) Reinjuries MESH:D000083102 Damage inflicted on the same body part as a previous injury. MESH:D014947 C26.741 C26 injuries, Repeated|Injury, Repeat|Injury, Second|Injury, Subsequent|Re-injuries|Re-injury|Reinjury|Repeated injuries|Repeated injury|Repeat Injuries|Repeat Injury|Second Injuries|Second Injury|Subsequent Injuries|Subsequent Injury Wounds and injuries Relapsing Fever MESH:D012061 DO:DOID:13034|DO:DOID:13035 An acute infection characterized by recurrent episodes of PYREXIA alternating with asymptomatic intervals of apparent recovery. This condition is caused by SPIROCHETES of the genus BORRELIA. It is transmitted by the BITES of either the body louse (PEDICULUS humanus corporis), for which humans are the reservoir, or by soft ticks of the genus ORNITHODOROS, for which rodents and other animals are the principal reservoirs. MESH:D001899|MESH:D017282 C01.150.252.400.794.352.500|C01.920.930.775 C01.150.252.400.794.352|C01.920.930 Borrelia hermsii Infection|Borrelia hermsii Infections|Borrelia recurrentis Infection|Borrelia recurrentis Infections|Fever, Louse-borne Relapsing|Fever, Relapsing|Fever, Tick-borne Relapsing|Infection, Borrelia hermsii|Infection, Borrelia recurrentis|Louse borne Relapsing Fever|Louse-borne Relapsing Fever|Louse-borne Relapsing Fevers|Relapsing Fever, Louse-borne|Relapsing Fevers|Relapsing Fever, Tick-borne|Tick borne Relapsing Fever|Tick-borne Relapsing Fever|Tick-borne Relapsing Fevers Bacterial infection or mycosis Relative Energy Deficiency in Sport MESH:D000080822 Health disorders associated with low caloric intake of individuals involved in high-activity SPORTS. MESH:D001068 F03.400.937 F03.400 RED S|RED-S|RED S Relative Energy Deficiency in Sport|RED-S Relative Energy Deficiency in Sport|RED-Ss Mental disorder Remission, Spontaneous MESH:D012075 A spontaneous diminution or abatement of a disease over time, without formal treatment. MESH:D018450 C23.550.291.656.700 C23.550.291.656 Remissions, Spontaneous|Spontaneous Remission|Spontaneous Remissions Pathology (process) REM Sleep Behavior Disorder MESH:D020187 DO:DOID:9091 A disorder characterized by episodes of vigorous and often violent motor activity during REM sleep (SLEEP, REM). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393) MESH:D020923 C10.886.659.633.700|F03.870.664.633.700 C10.886.659.633|F03.870.664.633 Behavior Disorder, Rapid Eye Movement Sleep|Behavior Disorder, REM|Behavior Disorders, REM|Rapid Eye Movement Sleep Behavior Disorder|REM Behavior Disorder|REM Behavior Disorders Mental disorder|Nervous system disease REM Sleep Parasomnias MESH:D020923 Abnormal behavioral or physiologic events that are associated with REM sleep, including REM SLEEP BEHAVIOR DISORDER. MESH:D020447 C10.886.659.633|F03.870.664.633 C10.886.659|F03.870.664 Erection, Sleep-Related Painful|Erections, Sleep-Related Painful|Painful Erection, Sleep-Related|Painful Erections, Sleep Related|Painful Erections, Sleep-Related|Parasomnia, REM Sleep|Parasomnias, REM Sleep|Rapid Eye Movement Sleep Parasomnias|REM Sleep Parasomnia|REM Sleep Related Sinus Arrest|REM Sleep-Related Sinus Arrest|Sinus Arrest, REM Sleep Related|Sinus Arrest, REM Sleep-Related|Sleep-Related Painful Erection|Sleep Related Painful Erections|Sleep-Related Painful Erections|Sleep, REM, Parasomnias Mental disorder|Nervous system disease Renal Adysplasia MESH:C563261 DO:DOID:14766 MESH:D014564 C12.050.351.875/C563261|C12.200.706/C563261|C12.800/C563261|C16.131.939/C563261 C12.050.351.875|C12.200.706|C12.800|C16.131.939 Hereditary Renal Aplasia|Renal Aplasia|Renal Hypodysplasia-aplasia 1|RHDA1 Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Renal Aminoacidurias MESH:D000608 A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved. MESH:D015499 C12.050.351.968.419.815.885|C12.200.777.419.815.885|C12.950.419.815.885|C16.320.831.885 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.831 Aminoaciduria, Renal|Aminoacidurias, Renal|Renal Aminoaciduria Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Renal and Mullerian Duct Hypoplasia MESH:C564853 MESH:D000013|MESH:D019066 C16.131/C564853|C23.550.291.812/C564853 C16.131|C23.550.291.812 Congenital abnormality|Pathology (process) Renal Artery Obstruction MESH:D012078 DO:DOID:2972 Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR). MESH:D001157|MESH:D007674 C12.050.351.968.419.775|C12.200.777.419.775|C12.950.419.775|C14.907.137.727 C12.050.351.968.419|C12.200.777.419|C12.950.419|C14.907.137 Obstruction, Renal Artery|Obstructions, Renal Artery|Renal Artery Obstructions|Renal Artery Stenoses|Renal Artery Stenosis|Stenoses, Renal Artery|Stenosis, Renal Artery Cardiovascular disease|Urogenital disease (female)|Urogenital disease (male) Renal cell carcinoma 1 MESH:C538557 MESH:D002292 C04.557.470.200.025.390/C538557|C04.588.945.947.535.160/C538557|C12.050.351.937.820.535.160/C538557|C12.050.351.968.419.473.160/C538557|C12.200.758.820.750.160/C538557|C12.200.777.419.473.160/C538557|C12.900.820.535.160/C538557|C12.950.419.473.160/C538557|C12.950.983.535.160/C538557 C04.557.470.200.025.390|C04.588.945.947.535.160|C12.050.351.937.820.535.160|C12.050.351.968.419.473.160|C12.200.758.820.750.160|C12.200.777.419.473.160|C12.900.820.535.160|C12.950.419.473.160|C12.950.983.535.160 Cancer|Urogenital disease (female)|Urogenital disease (male) Renal Colic MESH:D056844 A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA. MESH:D010146|MESH:D012816 C23.888.592.612.972|C23.888.721 C23.888|C23.888.592.612 Acute Renal Colic|Acute Renal Colics|Colic, Acute Renal|Colic, Renal|Colics, Acute Renal|Colics, Renal|Colics, Ureteral|Colic, Ureteral|Renal Colic, Acute|Renal Colics|Renal Colics, Acute|Ureteral Colic|Ureteral Colics Signs and symptoms Renal cysts and diabetes syndrome MESH:C535520 OMIM:137920 MESH:D002493|MESH:D003924|MESH:D052177 C10.228/C535520|C12.050.351.968.419.403/C535520|C12.200.777.419.403/C535520|C12.950.419.403/C535520|C18.452.394.750.149/C535520|C19.246.300/C535520 C10.228|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C18.452.394.750.149|C19.246.300 ADTKD3|CAKUT WITH DIABETES|CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES|FJHN, ATYPICAL|Glomerulocystic kidney disease, hypoplastic type|Glomerulocystic kidney, familial hypoplastic|Hyperuricemic nephropathy, familial juvenile, atypical|Maturity-onset diabetes of the young, type 5|MODY5|RCAD|TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 3 Endocrine system disease|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Renal dysplasia diffuse cystic MESH:C537755 MESH:D017044 C12.050.351.968.419.403.875.510/C537755|C12.200.777.419.403.875.510/C537755|C12.950.419.403.875.510/C537755|C16.131.077.717.510/C537755|C16.320.184.625.510/C537755 C12.050.351.968.419.403.875.510|C12.200.777.419.403.875.510|C12.950.419.403.875.510|C16.131.077.717.510|C16.320.184.625.510 Diffuse cystic renal dysplasia|Renal Dysplasia, Diffuse Cystic Congenital abnormality|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Renal dysplasia - limb defects syndrome MESH:C537754 MESH:D007674|MESH:D014564|MESH:D017880|MESH:D019066 C05.660.585/C537754|C12.050.351.875/C537754|C12.050.351.968.419/C537754|C12.200.706/C537754|C12.200.777.419/C537754|C12.800/C537754|C12.950.419/C537754|C16.131.621.585/C537754|C16.131.939/C537754|C23.550.291.812/C537754 C05.660.585|C12.050.351.875|C12.050.351.968.419|C12.200.706|C12.200.777.419|C12.800|C12.950.419|C16.131.621.585|C16.131.939|C23.550.291.812 Renal Dysplasia-Limb Defects Syndrome|Renal dysplasia, mesomelia, and radiohumeral fusion|Ulbright Hodes syndrome Congenital abnormality|Musculoskeletal disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Renal Failure, Progressive, with Hypertension MESH:C562889 OMIM:161900 MESH:D009394 C12.050.351.875.742/C562889|C12.050.351.968.419.570.620/C562889|C12.200.706.742/C562889|C12.200.777.419.570.620/C562889|C12.800.742/C562889|C12.950.419.570.620/C562889|C16.131.939.742/C562889|C17.300.200.517/C562889 C12.050.351.875.742|C12.050.351.968.419.570.620|C12.200.706.742|C12.200.777.419.570.620|C12.800.742|C12.950.419.570.620|C16.131.939.742|C17.300.200.517 AORF|Nephritis, Familial, without Deafness or Ocular Defect|Nephropathy, Familial|Renal Failure, Adult-Onset|RFH1 Congenital abnormality|Connective tissue disease|Urogenital disease (female)|Urogenital disease (male) Renal, Genital, and Middle Ear Anomalies MESH:C564849 MESH:D014564 C12.050.351.875/C564849|C12.200.706/C564849|C12.800/C564849|C16.131.939/C564849 C12.050.351.875|C12.200.706|C12.800|C16.131.939 Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Renal-Hepatic-Pancreatic Dysplasia MESH:C567142 DO:DOID:0060259 MESH:D000015 C16.131.077/C567142 C16.131.077 Congenital abnormality RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 OMIM:208540 DO:DOID:0060259 MESH:D003616|MESH:D008107|MESH:D010182|MESH:D012857|MESH:D052177 C06.552/208540|C06.689/208540|C10.228.140.252.300/208540|C10.228.140.602.500/208540|C10.500.205/208540|C12.050.351.968.419.403/208540|C12.200.777.419.403/208540|C12.950.419.403/208540|C16.131.666.205/208540|C16.131.810/208540 C06.552|C06.689|C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.666.205|C16.131.810 RHPD|RHPD1 Congenital abnormality|Digestive system disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Renal hepatic pancreatic dysplasia Dandy Walker cyst MESH:C537756 DO:DOID:0070121|OMIM:267010 MESH:D000015|MESH:D003616|MESH:D010181 C04.182.640/C537756|C06.689.500/C537756|C10.228.140.252.300/C537756|C10.228.140.602.500/C537756|C10.500.205/C537756|C16.131.077/C537756|C16.131.666.205/C537756 C04.182.640|C06.689.500|C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C16.131.077|C16.131.666.205 Goldston syndrome|Meckel like syndrome|Meckel-Like Syndrome|MECKEL SYNDROME, TYPE 7|MKS7|Renal-Hepatic-Pancreatic Dysplasia with Dandy-Walker Cyst Cancer|Congenital abnormality|Digestive system disease|Nervous system disease Renal Hypodysplasia, Nonsyndromic, 1 MESH:C563661 OMIM:610805 MESH:D007674 C12.050.351.968.419/C563661|C12.200.777.419/C563661|C12.950.419/C563661 C12.050.351.968.419|C12.200.777.419|C12.950.419 CAKUT1|CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1|RENAL HYPODYSPLASIA, NONSYNDROMIC, 1|RHDNS1 Urogenital disease (female)|Urogenital disease (male) Renal hypouricemia MESH:C537757 OMIM:220150 MESH:D014545|MESH:D015499 C12.050.351.968.419.815/C537757|C12.050.351.968.967.500/C537757|C12.200.777.419.815/C537757|C12.200.777.967.500/C537757|C12.950.419.815/C537757|C12.950.967.500/C537757|C16.320.565.893/C537757|C16.320.831/C537757|C18.452.648.893/C537757|C23.300.175.850/C537757 C12.050.351.968.419.815|C12.050.351.968.967.500|C12.200.777.419.815|C12.200.777.967.500|C12.950.419.815|C12.950.967.500|C16.320.565.893|C16.320.831|C18.452.648.893|C23.300.175.850 Dalmatian hypouricemia|Hypouricemia, renal|Hypouricemia, Renal, 1|RENAL HYPOURICEMIA|RHUC1 Genetic disease (inborn)|Metabolic disease|Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Renal Insufficiency MESH:D051437 DO:DOID:1074 Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE. MESH:D007674 C12.050.351.968.419.780|C12.200.777.419.780|C12.950.419.780 C12.050.351.968.419|C12.200.777.419|C12.950.419 Failure, Kidney|Failure, Renal|Failures, Kidney|Failures, Renal|Insufficiency, Kidney|Kidney Failure|Kidney Failures|Kidney Insufficiencies|Kidney Insufficiency|Renal Failure|Renal Failures|Renal Insufficiencies Urogenital disease (female)|Urogenital disease (male) Renal Insufficiency, Chronic MESH:D051436 Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002) MESH:D002908|MESH:D051437 C12.050.351.968.419.780.750|C12.200.777.419.780.750|C12.950.419.780.750|C23.550.291.500.906 C12.050.351.968.419.780|C12.200.777.419.780|C12.950.419.780|C23.550.291.500 Chronic Kidney Disease|Chronic Kidney Diseases|Chronic Kidney Insufficiencies|Chronic Kidney Insufficiency|Chronic Renal Disease|Chronic Renal Diseases|Chronic Renal Insufficiencies|Chronic Renal Insufficiency|Disease, Chronic Kidney|Disease, Chronic Renal|Diseases, Chronic Kidney|Diseases, Chronic Renal|Kidney Disease, Chronic|Kidney Diseases, Chronic|Kidney Insufficiencies, Chronic|Kidney Insufficiency, Chronic|Renal Disease, Chronic|Renal Diseases, Chronic|Renal Insufficiencies, Chronic Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Renal Nutcracker Syndrome MESH:D059228 Left RENAL VEIN compression between the AORTA, ABDOMINAL and the SUPERIOR MESENTERIC ARTERY. Variable symptoms include HYPERTENSION, RENOVASCULAR; HEMATURIA; and VARICOSE VEINS. MESH:D007674 C12.050.351.968.419.787|C12.200.777.419.787|C12.950.419.787 C12.050.351.968.419|C12.200.777.419|C12.950.419 Nutcracker Phenomenon, Renal|Nutcracker Phenomenons, Renal|Nutcracker Syndrome, Renal|Nutcracker Syndromes, Renal|Phenomenon, Renal Nutcracker|Phenomenons, Renal Nutcracker|Renal Nutcracker Phenomenon|Renal Nutcracker Phenomenons|Renal Nutcracker Syndromes|Renal Vein Entrapment Syndrome Urogenital disease (female)|Urogenital disease (male) Renal tubular acidosis, distal, autosomal recessive MESH:C537758 OMIM:602722 MESH:D000141 C12.050.351.968.419.815.093/C537758|C12.200.777.419.815.093/C537758|C12.950.419.815.093/C537758|C16.320.831.093/C537758|C18.452.076.176.210/C537758 C12.050.351.968.419.815.093|C12.200.777.419.815.093|C12.950.419.815.093|C16.320.831.093|C18.452.076.176.210 Autosomal recessive distal renal tubular acidosis|DRTA3|Renal tubular acidosis, autosomal recessive with preserved hearing|Renal Tubular Acidosis, Autosomal Recessive, With Preserved Hearing|RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS|RTA, distal, autosomal recessive|RTADR Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss MESH:C566428 MESH:D000141|MESH:D006319 C09.218.458.341.887/C566428|C10.597.751.418.341.887/C566428|C12.050.351.968.419.815.093/C566428|C12.200.777.419.815.093/C566428|C12.950.419.815.093/C566428|C16.320.831.093/C566428|C18.452.076.176.210/C566428|C23.888.592.763.393.341.887/C566428 C09.218.458.341.887|C10.597.751.418.341.887|C12.050.351.968.419.815.093|C12.200.777.419.815.093|C12.950.419.815.093|C16.320.831.093|C18.452.076.176.210|C23.888.592.763.393.341.887 Ear-nose-throat disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Renal tubular acidosis, distal, type 3 MESH:C537759 MESH:D000141 C12.050.351.968.419.815.093/C537759|C12.200.777.419.815.093/C537759|C12.950.419.815.093/C537759|C16.320.831.093/C537759|C18.452.076.176.210/C537759 C12.050.351.968.419.815.093|C12.200.777.419.815.093|C12.950.419.815.093|C16.320.831.093|C18.452.076.176.210 Bicarbonate-wasting RTA|Renal Tubular Acidosis III|RTA, bicarbonate-wasting type|RTA, dislocation type Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Renal Tubular Acidosis, Distal, With Hemolytic Anemia MESH:C566910 OMIM:611590 MESH:D000141|MESH:D000743 C12.050.351.968.419.815.093/C566910|C12.200.777.419.815.093/C566910|C12.950.419.815.093/C566910|C15.378.071.141/C566910|C16.320.831.093/C566910|C18.452.076.176.210/C566910 C12.050.351.968.419.815.093|C12.200.777.419.815.093|C12.950.419.815.093|C15.378.071.141|C16.320.831.093|C18.452.076.176.210 INCLUDED|RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA;DRTA4 RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY,|RTA, Distal, Autosomal Recessive, With Hemolytic Anemia Blood disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies MESH:C566918 MESH:D000141|MESH:D001523|MESH:D006130|MESH:D009397|MESH:D019066 C12.050.351.968.419.590/C566918|C12.050.351.968.419.815.093/C566918|C12.200.777.419.590/C566918|C12.200.777.419.815.093/C566918|C12.950.419.590/C566918|C12.950.419.815.093/C566918|C16.320.831.093/C566918|C18.452.076.176.210/C566918|C18.452.174.130.560/C566918|C23.550.291.812/C566918|C23.550.393/C566918|F03/C566918 C12.050.351.968.419.590|C12.050.351.968.419.815.093|C12.200.777.419.590|C12.200.777.419.815.093|C12.950.419.590|C12.950.419.815.093|C16.320.831.093|C18.452.076.176.210|C18.452.174.130.560|C23.550.291.812|C23.550.393|F03 Genetic disease (inborn)|Mental disorder|Metabolic disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology MESH:C566911 MESH:D000141 C12.050.351.968.419.815.093/C566911|C12.200.777.419.815.093/C566911|C12.950.419.815.093/C566911|C16.320.831.093/C566911|C18.452.076.176.210/C566911 C12.050.351.968.419.815.093|C12.200.777.419.815.093|C12.950.419.815.093|C16.320.831.093|C18.452.076.176.210 Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness MESH:C562897 OMIM:267300 MESH:D000141|MESH:D006319 C09.218.458.341.887/C562897|C10.597.751.418.341.887/C562897|C12.050.351.968.419.815.093/C562897|C12.200.777.419.815.093/C562897|C12.950.419.815.093/C562897|C16.320.831.093/C562897|C18.452.076.176.210/C562897|C23.888.592.763.393.341.887/C562897 C09.218.458.341.887|C10.597.751.418.341.887|C12.050.351.968.419.815.093|C12.200.777.419.815.093|C12.950.419.815.093|C16.320.831.093|C18.452.076.176.210|C23.888.592.763.393.341.887 DRTA2|Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness|RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS|Renal Tubular Acidosis with Progressive Nerve Deafness|RTA WITH PROGRESSIVE NERVE DEAFNESS Ear-nose-throat disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation MESH:C567038 OMIM:604278 MESH:D000141|MESH:D005901|MESH:D008607 C10.597.606.360/C567038|C11.525.381/C567038|C12.050.351.968.419.815.093/C567038|C12.200.777.419.815.093/C567038|C12.950.419.815.093/C567038|C16.320.831.093/C567038|C18.452.076.176.210/C567038|C23.888.592.604.646/C567038|F03.625.539/C567038 C10.597.606.360|C11.525.381|C12.050.351.968.419.815.093|C12.200.777.419.815.093|C12.950.419.815.093|C16.320.831.093|C18.452.076.176.210|C23.888.592.604.646|F03.625.539 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT|RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION|Rta, Proximal, Autosomal Recessive Eye disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) RENAL TUBULAR DYSGENESIS OMIM:267430 MESH:C537048|MESH:D007674 C12.050.351.875/C537048/267430|C12.050.351.968.419/267430|C12.200.706/C537048/267430|C12.200.777.419/267430|C12.800/C537048/267430|C12.950.419/267430|C16.131.939/C537048/267430 C12.050.351.875/C537048|C12.050.351.968.419|C12.200.706/C537048|C12.200.777.419|C12.800/C537048|C12.950.419|C16.131.939/C537048 PRIMITIVE RENAL TUBULE SYNDROME RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED|RTD Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Renal Tubular Dysgenesis With Choanal Atresia And Athelia MESH:C567491 MESH:D000015|MESH:D002754 C08.460.171/C567491|C08.695.271/C567491|C09.603.171/C567491|C16.131.077/C567491|C16.131.740.271/C567491 C08.460.171|C08.695.271|C09.603.171|C16.131.077|C16.131.740.271 Congenital abnormality|Ear-nose-throat disease|Respiratory tract disease Renal Tubular Transport, Inborn Errors MESH:D015499 DO:DOID:447 Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES. MESH:D007674|MESH:D008661|MESH:D030342 C12.050.351.968.419.815|C12.200.777.419.815|C12.950.419.815|C16.320.565.893|C16.320.831|C18.452.648.893 C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.320|C16.320.565|C18.452.648 Kidney Tubular Transport, Inborn Error|Kidney Tubular Transport, Inborn Errors|Renal Tubular Transport Errors|Renal Tubular Transport, Inborn Error Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA MESH:C564014 MESH:D002524|MESH:D003922|MESH:D007674 C10.228.140.252.190/C564014|C10.597.350.090.500/C564014|C12.050.351.968.419/C564014|C12.200.777.419/C564014|C12.950.419/C564014|C18.452.394.750.124/C564014|C19.246.267/C564014|C20.111.327/C564014|C23.888.592.350.090.200/C564014 C10.228.140.252.190|C10.597.350.090.500|C12.050.351.968.419|C12.200.777.419|C12.950.419|C18.452.394.750.124|C19.246.267|C20.111.327|C23.888.592.350.090.200 Endocrine system disease|Immune system disease|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Renoprival hypertension MESH:C537760 MESH:D006977 C12.050.351.968.419.331/C537760|C12.200.777.419.331/C537760|C12.950.419.331/C537760|C14.907.489.631/C537760 C12.050.351.968.419.331|C12.200.777.419.331|C12.950.419.331|C14.907.489.631 Cardiovascular disease|Urogenital disease (female)|Urogenital disease (male) Renpenning syndrome 1 MESH:C537761 OMIM:309500 MESH:D002547|MESH:D038901 C10.228.140.140.254/C537761|C10.597.606.360.455/C537761|C16.320.322.500/C537761|C16.320.400.525/C537761 C10.228.140.140.254|C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Golabi-Ito-Hall Syndrome|Hamel Cerebropalatocardiac Syndrome|Mental Retardation, X-Linked 55|Mental retardation, X-linked Renpenning type|Mental Retardation, X-Linked, Renpenning Type|Mental Retardation, X-Linked, Syndromic 3|Mental retardation, X-linked, syndromic 8|Mental Retardation, X-Linked, With Spastic Diplegia|Mrx55|MRXS3|MRXS8|Porteous Syndrome|Renpenning Syndrome|RENS1|SHS|Sutherland-Haan syndrome|Sutherland-Haan X-linked mental retardation syndrome|X-Linked Intellectual Deficit Due To Pqbp1 Mutations|X-Linked Intellectual Deficit, Renpenning Type|X-linked mental retardation syndromic 3|X-linked mental retardation with spastic diplegia Genetic disease (inborn)|Nervous system disease Reoviridae Infections MESH:D012088 Infections produced by reoviruses, general or unspecified. MESH:D012327 C01.925.782.791 C01.925.782 Infection, Reoviridae|Infection, Reovirus|Infections, Reoviridae|Infections, Reovirus|Reoviridae Infection|Reovirus Infection|Reovirus Infections Viral disease Reperfusion Injury MESH:D015427 Adverse functional, metabolic, or structural changes in tissues that result from the restoration of blood flow to the tissue (REPERFUSION) following ISCHEMIA. MESH:D011183|MESH:D014652 C14.907.725|C23.550.767.877 C14.907|C23.550.767 Damage, Reperfusion|Injury, Ischemia Reperfusion|Injury, Ischemia-Reperfusion|Injury, Reperfusion|Ischemia-Reperfusion Injuries|Ischemia Reperfusion Injury|Ischemia-Reperfusion Injury|Reperfusion Damage|Reperfusion Damages|Reperfusion Injuries Cardiovascular disease|Pathology (process) Reproductive Tract Infections MESH:D060737 Infections of the genital tract in females or males. They can be caused by endogenous, iatrogenic, or sexually transmitted organisms. MESH:D005831|MESH:D005832|MESH:D007239 C01.730|C12.050.351.500.630|C12.100.250.630|C12.100.500.604|C12.200.294.604 C01|C12.050.351.500|C12.100.250|C12.100.500|C12.200.294 Genital Tract Infection|Genital Tract Infections|Infection, Genital Tract|Infection, Reproductive Tract|Infections, Genital Tract|Infections, Reproductive Tract|Reproductive Tract Infection Urogenital disease (female)|Urogenital disease (male) Respiration Disorders MESH:D012120 Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available. MESH:D012140 C08.618 C08 Disorder, Respiration|Disorders, Respiration|Respiration Disorder Respiratory tract disease Respiratory Aspiration MESH:D053120 Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA. MESH:D010335|MESH:D012120 C08.618.749|C23.550.773 C08.618|C23.550 Aspiration, Respiratory Pathology (process)|Respiratory tract disease Respiratory Aspiration of Gastric Contents MESH:D063466 Inhaling refluxed gastric or duodenal contents. MESH:D053120|MESH:D057045 C06.405.117.119.500.484.500.500|C08.618.749.500|C23.550.773.500 C06.405.117.119.500.484.500|C08.618.749|C23.550.773 Digestive system disease|Pathology (process)|Respiratory tract disease Respiratory Distress Syndrome MESH:D012128 DO:DOID:11394 A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA. MESH:D008171|MESH:D012120 C08.381.840|C08.618.840 C08.381|C08.618 Acute Respiratory Distress Syndrome|Adult Respiratory Distress Syndrome|ARDS, Human|Distress Syndrome, Respiratory|Distress Syndromes, Respiratory|Human ARDS|Lung, Shock|Pediatric Respiratory Distress Syndrome|Respiratory Distress Syndrome, Acute|Respiratory Distress Syndrome, Adult|Respiratory Distress Syndrome, Pediatric|Respiratory Distress Syndromes|Shock Lung|Syndrome, Respiratory Distress Respiratory tract disease Respiratory Distress Syndrome In Premature Infants MESH:C566881 OMIM:267450 MESH:D012127 C08.381.840.500/C566881|C08.618.840.500/C566881|C16.614.521.563/C566881 C08.381.840.500|C08.618.840.500|C16.614.521.563 HYALINE MEMBRANE DISEASE, FORMERLY|RDS Of Prematurity Infant-newborn disease|Respiratory tract disease Respiratory Distress Syndrome, Newborn MESH:D012127 A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause. MESH:D007235|MESH:D012128 C08.381.840.500|C08.618.840.500|C16.614.521.563 C08.381.840|C08.618.840|C16.614.521 Infantile Respiratory Distress Syndrome|Neonatal Respiratory Distress Syndrome|Respiratory Distress Syndrome, Infant Infant-newborn disease|Respiratory tract disease Respiratory Hypersensitivity MESH:D012130 A form of hypersensitivity affecting the respiratory tract. It includes ASTHMA and RHINITIS, ALLERGIC, SEASONAL. MESH:D006969|MESH:D012140 C08.674|C20.543.480.680 C08|C20.543.480 Airway Hyperresponsiveness|Airway Hyper Responsiveness|Airway Hyper-Responsiveness|Airway Hyperresponsivenesses|Hyperresponsiveness, Airway|Hyper-Responsiveness, Airway|Hypersensitivity, Respiratory|Respiratory Hypersensitivities Immune system disease|Respiratory tract disease Respiratory Insufficiency MESH:D012131 Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed) MESH:D012120 C08.618.846 C08.618 Acute Hypercapnic Respiratory Failure|Acute Hypoxemic Respiratory Failure|Depressions, Ventilatory|Failure, Hypercapnic Respiratory|Failure, Hypoxemic Respiratory|Failure, Respiratory|Hypercapnic Acute Respiratory Failure|Hypercapnic Respiratory Failure|Hypercapnic Respiratory Failures|Hypoxemic Acute Respiratory Failure|Hypoxemic Respiratory Failure|Hypoxemic Respiratory Failures|Respiratory Depression|Respiratory Failure|Respiratory Failure, Hypercapnic|Respiratory Failure, Hypoxemic|Respiratory Failures|Ventilatory Depression Respiratory tract disease Respiratory Paralysis MESH:D012133 Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders. MESH:D010243|MESH:D012131 C08.618.846.812|C10.597.622.812|C23.888.592.636.812 C08.618.846|C10.597.622|C23.888.592.636 Diaphragmatic Paralysis|Muscle Paralyses, Respiratory|Muscle Paralysis, Respiratory|Paralysis, Diaphragmatic|Paralysis, Respiratory|Paralysis, Respiratory Muscle|Respiratory Muscle Paralysis Nervous system disease|Respiratory tract disease|Signs and symptoms Respiratory Sounds MESH:D012135 Noises, normal and abnormal, heard on auscultation over any part of the RESPIRATORY TRACT. MESH:D012818 C23.888.852.779 C23.888.852 Breathing Sound|Breathing Sounds|Crackle|Crackles|Lung Sound|Lung Sounds|Pleural Rub|Pleural Rubs|Rale|Rales|Respiratory Sound|Rhonchi|Rhonchus|Rub, Pleural|Sound, Breathing|Sound, Lung|Sound, Respiratory|Sounds, Breathing|Sounds, Lung|Stridor|Stridors|Wheezing|Wheezings Signs and symptoms Respiratory Syncytial Virus Infections MESH:D018357 DO:DOID:1273 Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported. MESH:D018186 C01.925.782.580.600.550.750 C01.925.782.580.600.550 Infections, Respiratory Syncytial Virus|Respiratory Syncytial Virus Infection Viral disease Respiratory System Abnormalities MESH:D015619 Congenital structural abnormalities of the respiratory system. MESH:D000013|MESH:D012140 C08.695|C16.131.740 C08|C16.131 Abnormalities, Respiratory System|Abnormality, Respiratory System|Respiratory System Abnormality|System Abnormalities, Respiratory|System Abnormality, Respiratory Congenital abnormality|Respiratory tract disease Respiratory Tract Diseases MESH:D012140 Diseases involving the RESPIRATORY SYSTEM. MESH:C C08 C Disease, Respiratory System|Disease, Respiratory Tract|Respiratory Diseases|Respiratory System Disease|Respiratory System Diseases|Respiratory Tract Disease Respiratory tract disease Respiratory Tract Fistula MESH:D016156 An abnormal passage communicating between any component of the respiratory tract or between any part of the respiratory system and surrounding organs. MESH:D005402|MESH:D012140 C08.702|C23.300.575.687 C08|C23.300.575 Fistula, Respiratory System|Fistula, Respiratory Tract|Fistulas, Respiratory Tract|Respiratory System Fistula|Respiratory System Fistulas|Respiratory Tract Fistulas Pathology (anatomical condition)|Respiratory tract disease Respiratory Tract Infections MESH:D012141 Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. MESH:D007239|MESH:D012140 C01.748|C08.730 C01|C08 Infection, Respiratory System|Infection, Respiratory Tract|Infections, Respiratory|Infections, Respiratory Tract|Infections, Upper Respiratory|Infections, Upper Respiratory Tract|Respiratory Infections|Respiratory Infection, Upper|Respiratory System Infection|Respiratory System Infections|Respiratory Tract Infection|Upper Respiratory Infections|Upper Respiratory Tract Infection|Upper Respiratory Tract Infections Respiratory tract disease Respiratory Tract Neoplasms MESH:D012142 Tumors or cancer of the RESPIRATORY SYSTEM. MESH:D012140|MESH:D013899 C04.588.894.797|C08.785 C04.588.894|C08 Neoplasm, Respiratory|Neoplasm, Respiratory System|Neoplasm, Respiratory Tract|Respiratory Neoplasm|Respiratory Neoplasms|Respiratory System Neoplasm|Respiratory System Neoplasms|Respiratory Tract Neoplasm Cancer|Respiratory tract disease Respiratory Underresponsiveness to Hypoxia and Hypercapnia MESH:C564848 MESH:D012131 C08.618.846/C564848 C08.618.846 Respiratory tract disease Respirovirus Infections MESH:D010253 Infections with viruses of the genus RESPIROVIRUS, family PARAMYXOVIRIDAE. Host cell infection occurs by adsorption, via HEMAGGLUTININ, to the cell surface. MESH:D018184 C01.925.782.580.600.600 C01.925.782.580.600 Infections, Respirovirus Viral disease Restless Legs Syndrome MESH:D012148 DO:DOID:0050425|OMIM:102300|OMIM:608831|OMIM:610438|OMIM:610439|OMIM:611185|OMIM:611242|OMIM:612853 A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. MESH:D009422|MESH:D020447|MESH:D020919 C10.803|C10.886.425.800.700|C10.886.659.634|F03.870.400.800.700|F03.870.664.634 C10|C10.886.425.800|C10.886.659|F03.870.400.800|F03.870.664 ACROMELALGIA, HEREDITARY|Disease, Willis Ekbom|Disease, Willis-Ekbom|EKBOM SYNDROME|PERIODIC LIMB MOVEMENTS IN SLEEP|Restless Legs|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 2|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6|RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7|Restless Leg Syndrome|RLS1|RLS2|RLS3|RLS4|RLS5|RLS6|RLS7|Syndrome, Restless Leg|Syndrome, Willis Ekbom|Syndrome, Willis-Ekbom|Syndrome, Wittmaack Ekbom|Syndrome, Wittmaack-Ekbom|Willis Ekbom Disease|Willis-Ekbom Disease|Willis Ekbom Syndrome|Willis-Ekbom Syndrome|Wittmaack Ekbom Syndrome|Wittmaack-Ekbom Syndrome Mental disorder|Nervous system disease Restless legs syndrome 1 MESH:C538443 MESH:D012148 C10.803/C538443|C10.886.425.800.700/C538443|C10.886.659.634/C538443|F03.870.400.800.700/C538443|F03.870.664.634/C538443 C10.803|C10.886.425.800.700|C10.886.659.634|F03.870.400.800.700|F03.870.664.634 Acromelalgia hereditary Mental disorder|Nervous system disease Restless legs syndrome 2 MESH:C538360 MESH:D012148 C10.803/C538360|C10.886.425.800.700/C538360|C10.886.659.634/C538360|F03.870.400.800.700/C538360|F03.870.664.634/C538360 C10.803|C10.886.425.800.700|C10.886.659.634|F03.870.400.800.700|F03.870.664.634 Autosomal dominant restless legs syndrome|Restless legs syndrome, autosomal dominant Mental disorder|Nervous system disease restless sleep disorder MESH:C000715309 MESH:D020919 C10.886.425.800/C000715309|F03.870.400.800/C000715309 C10.886.425.800|F03.870.400.800 Mental disorder|Nervous system disease Reticular dysgenesis MESH:C538361 DO:DOID:0060020|OMIM:267500 MESH:D007970|MESH:D016511 C15.378.553.546/C538361|C16.320.798.750/C538361|C16.614.815/C538361|C18.452.284.800/C538361|C20.673.795.750/C538361 C15.378.553.546|C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 Aleukocytosis|Congenital aleukia|DeVaal disease|De Vaal Disease|Hematopoietic Hypoplasia, Generalized|Immunoerythromyeloid Hypoplasia|Reticular dysgenesia|Severe combined immunodeficiency with leukopenia Blood disease|Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Reticular Dystrophy Of Retinal Pigment Epithelium MESH:C566721 MESH:D058499 C11.768.585.658/C566721 C11.768.585.658 Eye disease Reticulocytosis MESH:D045262 An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA. MESH:D012816 C23.888.760 C23.888 Reticulocytoses Signs and symptoms Reticuloendotheliosis, Avian MESH:D055761 A group of pathologic syndromes found in avian species caused by RETICULOENDOTHELIOSIS VIRUS. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant. MESH:D001715|MESH:D014777 C01.925.744|C22.131.780 C01.925|C22.131 Avian Reticuloendothelioses|Avian Reticuloendotheliosis|Reticuloendothelioses, Avian Animal disease|Viral disease Reticuloendotheliosis, familial, with eosinophilia MESH:C538564 OMIM:603554 MESH:D004802|MESH:D016511 C15.378.553.231/C538564|C16.320.798.750/C538564|C16.614.815/C538564|C18.452.284.800/C538564|C20.673.795.750/C538564 C15.378.553.231|C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 OMENN SYNDROME|RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA|Severe combined immunodeficiency with hypereosinophilia Blood disease|Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Reticuloendotheliosis, X-linked MESH:C538362 DO:DOID:1731 MESH:D016511|MESH:D040181 C16.320.322/C538362|C16.320.798.750/C538362|C16.614.815/C538362|C18.452.284.800/C538362|C20.673.795.750/C538362 C16.320.322|C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 Reticuloendotheliosis Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Retinal Aplasia MESH:C566720 MESH:D001766|MESH:D012164|MESH:D015785 C10.597.751.941.162/C566720|C11.270/C566720|C11.768/C566720|C11.966.075/C566720|C16.320.290/C566720|C23.888.592.763.941.162/C566720 C10.597.751.941.162|C11.270|C11.768|C11.966.075|C16.320.290|C23.888.592.763.941.162 Amaurosis Congenita Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Retinal Arterial Macroaneurysm MESH:D000080346 An acquired dilation of the retinal artery often associated with systemic HYPERTENSION. MESH:D000783|MESH:D058437 C11.768.346.500|C14.907.055.908|C14.907.489.815.500 C11.768.346|C14.907.055|C14.907.489.815 Arteriolar Macroaneurysm, Retinal|Macroaneurysm, Retinal|Macroaneurysm, Retinal Arterial|Macroaneurysm, Retinal Arteriolar|Retinal Arterial Macroaneurysms|Retinal Arteriolar Macroaneurysm|Retinal Arteriolar Macroaneurysms|Retinal Macroaneurysm|Retinal Macroaneurysms|Ruptured Retinal Arterial Macroaneurysm Cardiovascular disease|Eye disease RETINAL ARTERIES, TORTUOSITY OF OMIM:180000 DO:DOID:0111547 MESH:D012166|MESH:D054079 C11.290.807/180000|C11.768.710/180000|C14.240.850/180000|C16.131.240.850/180000|C23.550.414.756.775/180000 C11.290.807|C11.768.710|C14.240.850|C16.131.240.850|C23.550.414.756.775 RATOR|RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY Cardiovascular disease|Congenital abnormality|Eye disease|Pathology (process) Retinal Artery Occlusion MESH:D015356 DO:DOID:13094|DO:DOID:13098|DO:DOID:8483 Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye. MESH:D001157|MESH:D012164 C11.768.400|C14.907.137.780 C11.768|C14.907.137 Branch Retinal Artery Occlusion|Central Retinal Artery Occlusion|Occlusion, Retinal Artery|Occlusions, Retinal Artery|Retinal Artery Occlusions Cardiovascular disease|Eye disease Retinal Cone Dystrophy 1 MESH:C566719 DO:DOID:0081024|OMIM:180020 MESH:D012162 C11.270.612/C566719|C11.768.585/C566719 C11.270.612|C11.768.585 Cone Dystrophy, Autosomal Dominant|RCD1|Retinal Cone Degeneration Eye disease Retinal cone dystrophy 2 MESH:C538363 OMIM:601777 MESH:D012174 C11.270.684/C538363|C11.768.585.658.500/C538363|C16.320.290.684/C538363 C11.270.684|C11.768.585.658.500|C16.320.290.684 Cone degeneration, autosomal dominant progressive|Cone-Rod Dystrophy 6|CORD6|RCD2|RETINAL CONE DYSTROPHY 2 Eye disease|Genetic disease (inborn) Retinal Cone Dystrophy 3A MESH:C566483 DO:DOID:0081025|OMIM:610024 MESH:D012174 C11.270.684/C566483|C11.768.585.658.500/C566483|C16.320.290.684/C566483 C11.270.684|C11.768.585.658.500|C16.320.290.684 ACHM6, INCLUDED|Cone Dystrophy with Night Blindness and Supernormal Rod Responses, PDE6H-Related|CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, PDE6H-RELATED ACHROMATOPSIA 6, INCLUDED|RCD3A Eye disease|Genetic disease (inborn) Retinal Cone Dystrophy 3B MESH:C563678 DO:DOID:0081022|OMIM:610356 MESH:D012174 C11.270.684/C563678|C11.768.585.658.500/C563678|C16.320.290.684/C563678 C11.270.684|C11.768.585.658.500|C16.320.290.684 CDSRR|Cone Dystrophy with Night Blindness and Supernormal Rod Responses, KCNV2-Related|CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES|RCD3B Eye disease|Genetic disease (inborn) Retinal Cone Dystrophy 4 MESH:C566470 DO:DOID:0081023|OMIM:610478 MESH:D012174 C11.270.684/C566470|C11.768.585.658.500/C566470|C16.320.290.684/C566470 C11.270.684|C11.768.585.658.500|C16.320.290.684 RCD4 Eye disease|Genetic disease (inborn) Retinal Degeneration MESH:D012162 DO:DOID:8466 A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304) MESH:D012164|MESH:D015785 C11.270.612|C11.768.585 C11.270|C11.768 Degeneration, Retinal|Degenerations, Retinal|Retinal Degenerations Eye disease Retinal Degeneration and Epilepsy MESH:C564847 MESH:D004827|MESH:D012162 C10.228.140.490/C564847|C11.270.612/C564847|C11.768.585/C564847 C10.228.140.490|C11.270.612|C11.768.585 Eye disease|Nervous system disease Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type MESH:C563527 MESH:D012162 C11.270.612/C563527|C11.768.585/C563527 C11.270.612|C11.768.585 Eye disease Retinal Detachment MESH:D012163 DO:DOID:5327 Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12). MESH:D012164 C11.768.648 C11.768 Detachment, Retinal|Detachments, Retinal|Retinal Detachments|Retinal Pigment Epithelial Detachment Eye disease Retinal Diseases MESH:D012164 DO:DOID:5679 Diseases involving the RETINA. MESH:D005128 C11.768 C11 Disease, Retinal|Diseases, Retinal|Retinal Disease Eye disease Retinal Drusen MESH:D015593 DO:DOID:2569 Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium. MESH:D012162 C11.768.585.585 C11.768.585 Drusen, Retinal Eye disease Retinal Dysplasia MESH:D015792 Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary. MESH:D005124|MESH:D012164|MESH:D015785 C11.250.666|C11.270.660|C11.768.660|C16.131.384.784|C16.320.290.660 C11.250|C11.270|C11.768|C16.131.384|C16.320.290 Dysplasia, Retinal|Dysplasias, Retinal|Retinal Dysplasias Congenital abnormality|Eye disease|Genetic disease (inborn) RETINAL DYSPLASIA, PRIMARY OMIM:312550 MESH:D012164 C11.768/312550 C11.768 PRD Eye disease Retinal Dystrophies MESH:D058499 DO:DOID:8501 A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues. MESH:D012162 C11.768.585.658 C11.768.585 Dystrophies, Retinal|Dystrophy, Retinal|Retinal Dystrophy Eye disease RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CATARACT OMIM:616722 MESH:D002386|MESH:D003103|MESH:D058499 C11.250.110/616722|C11.270.147/616722|C11.510.245/616722|C11.768.585.658/616722|C16.131.384.282/616722 C11.250.110|C11.270.147|C11.510.245|C11.768.585.658|C16.131.384.282 RDICC|RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT Congenital abnormality|Eye disease RETINAL DYSTROPHY AND OBESITY OMIM:616188 MESH:D009765|MESH:D058499 C11.768.585.658/616188|C18.654.726.750.500/616188|C23.888.144.699.500/616188 C11.768.585.658|C18.654.726.750.500|C23.888.144.699.500 RDOB Eye disease|Nutrition disorder|Signs and symptoms Retinal Dystrophy, Early Onset Severe MESH:C565741 MESH:D015785|MESH:D058499 C11.270/C565741|C11.768.585.658/C565741|C16.320.290/C565741 C11.270|C11.768.585.658|C16.320.290 Eye disease|Genetic disease (inborn) RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME OMIM:615147 MESH:D000152|MESH:D003103|MESH:D058499 C11.250.110/615147|C11.270.147/615147|C11.768.585.658/615147|C16.131.384.282/615147|C17.800.030.150/615147|C17.800.794.111/615147 C11.250.110|C11.270.147|C11.768.585.658|C16.131.384.282|C17.800.030.150|C17.800.794.111 RDCCAS Congenital abnormality|Eye disease|Skin disease RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME OMIM:616108 MESH:D002386|MESH:D006130|MESH:D058499 C11.510.245/616108|C11.768.585.658/616108|C23.550.393/616108 C11.510.245|C11.768.585.658|C23.550.393 RDJCSS Eye disease|Pathology (process) Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole MESH:C564844 MESH:D058499 C11.768.585.658/C564844 C11.768.585.658 Eye disease RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES OMIM:616079 MESH:D058499 C11.768.585.658/616079 C11.768.585.658 RDGCA Eye disease RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES OMIM:617175 MESH:D058499 C11.768.585.658/617175 C11.768.585.658 RDEOA Eye disease Retinal Hemorrhage MESH:D012166 Bleeding from the vessels of the retina. MESH:D005130|MESH:D012164 C11.290.807|C11.768.710|C23.550.414.756.775 C11.290|C11.768|C23.550.414.756 Hemorrhage, Retinal|Retinal Hemorrhages Eye disease|Pathology (process) Retinal Necrosis Syndrome, Acute MESH:D015882 DO:DOID:3611 Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome. MESH:D012173 C11.768.773.674 C11.768.773 Acute Retinal Necroses|Acute Retinal Necrosis|Necroses, Acute Retinal|Necrosis, Acute Retinal|Retinal Necroses, Acute|Retinal Necrosis, Acute Eye disease Retinal Neoplasms MESH:D019572 DO:DOID:4645 Tumors or cancer of the RETINA. MESH:D005134|MESH:D012164 C04.588.364.818|C11.319.475|C11.768.717 C04.588.364|C11.319|C11.768 Cancer of the Retina|Cancer, Retinal|Cancers, Retinal|Neoplasm, Retinal|Neoplasms, Retinal|Retinal Cancer|Retinal Cancers|Retinal Neoplasm|Retinal Tumor|Retinal Tumors|Tumor, Retinal|Tumors, Retinal Cancer|Eye disease Retinal Neovascularization MESH:D015861 Formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina. MESH:D009389|MESH:D012164 C11.768.725|C23.550.589.500.725 C11.768|C23.550.589.500 Disk Neovascularization, Optic|Neovascularization, Optic Disc|Neovascularization, Optic Disk|Neovascularization, Retinal|Neovascularization, Sea Fan|Optic Disc Neovascularization|Optic Disc Neovascularizations|Optic Disk Neovascularization|Optic Disk Neovascularizations|Sea Fan Neovascularization|Sea Fan Neovascularizations Eye disease|Pathology (process) Retinal Nonattachment And Falciform Detachment MESH:C566717 MESH:D012163 C11.768.648/C566717 C11.768.648 Eye disease Retinal Nonattachment, Nonsyndromic Congenital MESH:C565633 OMIM:221900 MESH:D012164 C11.768/C565633 C11.768 Detachment of Retina, Congenital|NCRNA|PERSISTENT FETAL VASCULATURE|PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE|PHPVAR|RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT|RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL|RNANC Eye disease Retinal Perforations MESH:D012167 DO:DOID:12514|DO:DOID:7633 Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes. MESH:D012164 C11.768.740 C11.768 Break, Retinal|Breaks, Retinal|Dialyses, Retinal|Hole, Macular|Hole, Retinal|Holes, Macular|Holes, Retinal|Macular Hole|Macular Holes|Perforation, Retinal|Perforations, Retinal|Retinal Break|Retinal Breaks|Retinal Dialyse|Retinal Dialyses|Retinal Hole|Retinal Holes|Retinal Perforation|Retinal Tear|Retinal Tears|Tear, Retinal|Tears, Retinal Eye disease Retinal Telangiectasis MESH:D058456 DO:DOID:7765|OMIM:300216 A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels. MESH:D012164|MESH:D013684 C11.768.748|C14.907.823.502 C11.768|C14.907.823 Coat Disease|Coats Disease|Coats' Disease|Retinal Telangiectases|RETINAL TELANGIECTASIS|Telangiectases, Retinal|Telangiectasis, Retinal Cardiovascular disease|Eye disease Retinal Vasculitis MESH:D031300 DO:DOID:11563 Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS. MESH:D012164|MESH:D014657 C11.768.757|C14.907.940.815 C11.768|C14.907.940 Vasculitis, Retinal Cardiovascular disease|Eye disease Retinal Vein Occlusion MESH:D012170 DO:DOID:1727|DO:DOID:2450 Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES. MESH:D012164|MESH:D014652|MESH:D020246 C11.768.760|C14.907.355.830.925.650|C14.907.760 C11.768|C14.907|C14.907.355.830.925 Branch Retinal Vein Occlusion|Branch Vein Occlusion|Branch Vein Occlusions|Central Retinal Vein Occlusion|Occlusion, Branch Vein|Occlusion, Retinal Vein|Retinal Branch Vein Occlusion|Retinal Vein Occlusions|Retinal Vein Thromboses|Retinal Vein Thrombosis|Thrombosis, Retinal Vein|Vein Occlusion, Branch|Vein Occlusion, Retinal|Vein Thrombosis, Retinal Cardiovascular disease|Eye disease Retinitis MESH:D012173 DO:DOID:10176|DO:DOID:3612 Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis). MESH:D012164 C11.768.773 C11.768 Neuroretinitis Eye disease Retinitis Pigmentosa MESH:D012174 DO:DOID:10584|OMIM:268000 Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina. MESH:D015785|MESH:D058499 C11.270.684|C11.768.585.658.500|C16.320.290.684 C11.270|C11.768.585.658|C16.320.290 Pigmentary Retinopathies|Pigmentary Retinopathy|Retinopathies, Pigmentary|Retinopathy, Pigmentary|RP|Tapetoretinal Degeneration|Tapetoretinal Degenerations Eye disease|Genetic disease (inborn) Retinitis pigmentosa 1 MESH:C538365 DO:DOID:0110390|DO:DOID:10584|OMIM:180100 MESH:D012174 C11.270.684/C538365|C11.768.585.658.500/C538365|C16.320.290.684/C538365 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP1 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 10 MESH:C566715 DO:DOID:0110388|OMIM:180105 MESH:D012174 C11.270.684/C566715|C11.768.585.658.500/C566715|C16.320.290.684/C566715 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP10 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 11 MESH:C563991 DO:DOID:0110408|OMIM:600138 MESH:D012174 C11.270.684/C563991|C11.768.585.658.500/C563991|C16.320.290.684/C563991 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP11 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 12 MESH:C563999 DO:DOID:0110358|OMIM:600105 MESH:D012174 C11.270.684/C563999|C11.768.585.658.500/C563999|C16.320.290.684/C563999 C11.270.684|C11.768.585.658.500|C16.320.290.684 RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM|RP12|RP WITH OR WITHOUT PPRPE|RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 13 MESH:C564008 DO:DOID:0110403|OMIM:600059 MESH:D012174 C11.270.684/C564008|C11.768.585.658.500/C564008|C16.320.290.684/C564008 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP13 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 14 MESH:C563992 DO:DOID:0110381|OMIM:600132 MESH:D012174 C11.270.684/C563992|C11.768.585.658.500/C563992|C16.320.290.684/C563992 C11.270.684|C11.768.585.658.500|C16.320.290.684 Retinitis Pigmentosa, Juvenile, TULP1-Related|RP14 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 17 MESH:C563437 DO:DOID:0110404|OMIM:600852 MESH:D012174 C11.270.684/C563437|C11.768.585.658.500/C563437|C16.320.290.684/C563437 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP17 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 18 MESH:C563320 DO:DOID:0110356|OMIM:601414 MESH:D012174 C11.270.684/C563320|C11.768.585.658.500/C563320|C16.320.290.684/C563320 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP18 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 19 MESH:C566637 DO:DOID:0110354|OMIM:601718 MESH:D012174 C11.270.684/C566637|C11.768.585.658.500/C566637|C16.320.290.684/C566637 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP19 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 2 MESH:C567523 DO:DOID:0110415|OMIM:312600 MESH:D012174 C11.270.684/C567523|C11.768.585.658.500/C567523|C16.320.290.684/C567523 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP2 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 20 MESH:C566718 DO:DOID:0110353|OMIM:613794 MESH:D012174 C11.270.684/C566718|C11.768.585.658.500/C566718|C16.320.290.684/C566718 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP20 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 22 OMIM:602594 DO:DOID:0110400 MESH:D012174 C11.270.684/602594|C11.768.585.658.500/602594|C16.320.290.684/602594 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP22 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 23 OMIM:300424 DO:DOID:0110412 MESH:D012174 C11.270.684/300424|C11.768.585.658.500/300424|C16.320.290.684/300424 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP23 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 24 OMIM:300155 DO:DOID:0110416 MESH:D012174 C11.270.684/300155|C11.768.585.658.500/300155|C16.320.290.684/300155 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP24 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 25 MESH:C566425 DO:DOID:0110384|OMIM:602772 MESH:D012174 C11.270.684/C566425|C11.768.585.658.500/C566425|C16.320.290.684/C566425 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP25 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 26 MESH:C564249 DO:DOID:0110368|OMIM:608380 MESH:D012174 C11.270.684/C564249|C11.768.585.658.500/C564249|C16.320.290.684/C564249 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP26 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 27 MESH:C563526 DO:DOID:0110397|OMIM:613750 MESH:D012174 C11.270.684/C563526|C11.768.585.658.500/C563526|C16.320.290.684/C563526 C11.270.684|C11.768.585.658.500|C16.320.290.684 INCLUDED|RETINITIS PIGMENTOSA 27;RP27 RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, CLUMPED PIGMENT TYPE, Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 28 OMIM:606068 DO:DOID:0110365 MESH:D012174 C11.270.684/606068|C11.768.585.658.500/606068|C16.320.290.684/606068 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP28 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 29 MESH:C567403 DO:DOID:0110378|OMIM:612165 MESH:D012174 C11.270.684/C567403|C11.768.585.658.500/C567403|C16.320.290.684/C567403 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP29 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 3 MESH:C564520 DO:DOID:0110414|OMIM:300029 MESH:D012174|MESH:D040181 C11.270.684/C564520|C11.768.585.658.500/C564520|C16.320.290.684/C564520|C16.320.322/C564520 C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.322 Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women|Cone-Rod Degeneration, X-Linked|Retinitis Pigmentosa 15|RP15|RP3 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 30 MESH:C564310 DO:DOID:0110406|OMIM:607921 MESH:D012174 C11.270.684/C564310|C11.768.585.658.500/C564310|C16.320.290.684/C564310 C11.270.684|C11.768.585.658.500|C16.320.290.684 MACULAR DEGENERATION, INCLUDED|RP30 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 31 MESH:C563685 DO:DOID:0110391|OMIM:609923 MESH:D012174 C11.270.684/C563685|C11.768.585.658.500/C563685|C16.320.290.684/C563685 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP31 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 32 MESH:C563689 DO:DOID:0110355|OMIM:609913 MESH:D012174 C11.270.684/C563689|C11.768.585.658.500/C563689|C16.320.290.684/C563689 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP32 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 33 MESH:C563676 DO:DOID:0110366|OMIM:610359 MESH:D012174 C11.270.684/C563676|C11.768.585.658.500/C563676|C16.320.290.684/C563676 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP33 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 34 MESH:C564475 DO:DOID:0110417|OMIM:300605 MESH:D012174|MESH:D040181 C11.270.684/C564475|C11.768.585.658.500/C564475|C16.320.290.684/C564475|C16.320.322/C564475 C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.322 RP34 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 35 MESH:C565206 DO:DOID:0110357|OMIM:610282 MESH:D012174 C11.270.684/C565206|C11.768.585.658.500/C565206|C16.320.290.684/C565206 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP35 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 36 MESH:C566431 DO:DOID:0110405|OMIM:610599 MESH:D012174 C11.270.684/C566431|C11.768.585.658.500/C566431|C16.320.290.684/C566431 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP36 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 37 MESH:C567005 DO:DOID:0110399|OMIM:611131 MESH:D012174 C11.270.684/C567005|C11.768.585.658.500/C567005|C16.320.290.684/C567005 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP37 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 38 OMIM:613862 DO:DOID:0110367 MESH:D012174 C11.270.684/613862|C11.768.585.658.500/613862|C16.320.290.684/613862 C11.270.684|C11.768.585.658.500|C16.320.290.684 ROD-CONE DYSTROPHY, CHILDHOOD-ONSET|RP38 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 39 OMIM:613809 DO:DOID:0110360 MESH:D012174 C11.270.684/613809|C11.768.585.658.500/613809|C16.320.290.684/613809 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP39 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 4 MESH:C566706 DO:DOID:0110372|OMIM:613731 MESH:D012174 C11.270.684/C566706|C11.768.585.658.500/C566706|C16.320.290.684/C566706 C11.270.684|C11.768.585.658.500|C16.320.290.684 Retinitis Pigmentosa, Rhodopsin-Related|RP4 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 40 OMIM:613801 DO:DOID:0110375 MESH:D012174 C11.270.684/613801|C11.768.585.658.500/613801|C16.320.290.684/613801 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP40 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 41 MESH:C567422 DO:DOID:0110376|OMIM:612095 MESH:D012174 C11.270.684/C567422|C11.768.585.658.500/C567422|C16.320.290.684/C567422 C11.270.684|C11.768.585.658.500|C16.320.290.684 Retinal Degeneration, Autosomal Recessive, Prominin-Related|RP41 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 42 MESH:C567854 DO:DOID:0110386|OMIM:612943 MESH:D012174 C11.270.684/C567854|C11.768.585.658.500/C567854|C16.320.290.684/C567854 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP42 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 43 OMIM:613810 DO:DOID:0110379 MESH:D012174 C11.270.684/613810|C11.768.585.658.500/613810|C16.320.290.684/613810 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP43 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 44 OMIM:613769 DO:DOID:0110394 MESH:D012174 C11.270.684/613769|C11.768.585.658.500/613769|C16.320.290.684/613769 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP44 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 45 OMIM:613767 DO:DOID:0110402 MESH:D012174 C11.270.684/613767|C11.768.585.658.500/613767|C16.320.290.684/613767 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP45 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 46 MESH:C567249 DO:DOID:0110409|OMIM:612572 MESH:D012174 C11.270.684/C567249|C11.768.585.658.500/C567249|C16.320.290.684/C567249 C11.270.684|C11.768.585.658.500|C16.320.290.684 Retinitis Pigmentosa, Autosomal Recessive, Idh3b-Related|RP46 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 47 OMIM:613758 DO:DOID:0110369 MESH:D012174 C11.270.684/613758|C11.768.585.658.500/613758|C16.320.290.684/613758 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP47 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 48 OMIM:613827 DO:DOID:0110382 MESH:D012174 C11.270.684/613827|C11.768.585.658.500/613827|C16.320.290.684/613827 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP48 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 49 OMIM:613756 DO:DOID:0110377 MESH:D012174 C11.270.684/613756|C11.768.585.658.500/613756|C16.320.290.684/613756 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP49 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 50 OMIM:613194 DO:DOID:0110396 MESH:D012174 C11.270.684/613194|C11.768.585.658.500/613194|C16.320.290.684/613194 C11.270.684|C11.768.585.658.500|C16.320.290.684 RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED|RP50 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 51 OMIM:613464 DO:DOID:0110398 MESH:D012174 C11.270.684/613464|C11.768.585.658.500/613464|C16.320.290.684/613464 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP51 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 54 OMIM:613428 DO:DOID:0110364 MESH:D012174 C11.270.684/613428|C11.768.585.658.500/613428|C16.320.290.684/613428 C11.270.684|C11.768.585.658.500|C16.320.290.684 CONE-ROD DYSTROPHY 23, INCLUDED|CORD23, INCLUDED|RP54 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 55 OMIM:613575 DO:DOID:0110370 MESH:D012174 C11.270.684/613575|C11.768.585.658.500/613575|C16.320.290.684/613575 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP55 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 56 OMIM:613581 DO:DOID:0110371 MESH:D012174 C11.270.684/613581|C11.768.585.658.500/613581|C16.320.290.684/613581 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP56 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 57 OMIM:613582 DO:DOID:0110407 MESH:D012174 C11.270.684/613582|C11.768.585.658.500/613582|C16.320.290.684/613582 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP57 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 58 OMIM:613617 DO:DOID:0110362 MESH:D012174 C11.270.684/613617|C11.768.585.658.500/613617|C16.320.290.684/613617 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP58 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 59 OMIM:613861 DO:DOID:0110352 MESH:D012174 C11.270.684/613861|C11.768.585.658.500/613861|C16.320.290.684/613861 C11.270.684|C11.768.585.658.500|C16.320.290.684 CDG1BB,|CDG1BB, INCLUDED|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ibb, INCLUDED|RP59 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 6 MESH:C564065 DO:DOID:0110413|OMIM:312612 MESH:D012174|MESH:D040181 C11.270.684/C564065|C11.768.585.658.500/C564065|C16.320.290.684/C564065|C16.320.322/C564065 C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.322 Retinitis Pigmentosa, X-Linked Recessive, 6|RP6 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 60 OMIM:613983 DO:DOID:0110411 MESH:D012174 C11.270.684/613983|C11.768.585.658.500/613983|C16.320.290.684/613983 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP60 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 61 OMIM:614180 DO:DOID:0110373 MESH:D012174 C11.270.684/614180|C11.768.585.658.500/614180|C16.320.290.684/614180 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP61 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 62 OMIM:614181 DO:DOID:0110380 MESH:D012174 C11.270.684/614181|C11.768.585.658.500/614181|C16.320.290.684/614181 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP62 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 66 OMIM:615233 DO:DOID:0110393 MESH:D012174 C11.270.684/615233|C11.768.585.658.500/615233|C16.320.290.684/615233 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP66 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 67 OMIM:615565 DO:DOID:0110359 MESH:D012174 C11.270.684/615565|C11.768.585.658.500/615565|C16.320.290.684/615565 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP67 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 68 OMIM:615725 DO:DOID:0110374 MESH:D012174 C11.270.684/615725|C11.768.585.658.500/615725|C16.320.290.684/615725 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP68 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 69 OMIM:615780 DO:DOID:0110410 MESH:D012174 C11.270.684/615780|C11.768.585.658.500/615780|C16.320.290.684/615780 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP69 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 7 MESH:C564284 DO:DOID:0110383|OMIM:608133 MESH:D012174 C11.270.684/C564284|C11.768.585.658.500/C564284|C16.320.290.684/C564284 C11.270.684|C11.768.585.658.500|C16.320.290.684 LCA18, INCLUDED|LEBER CONGENITAL AMAUROSIS 18, INCLUDED|RETINITIS PIGMENTOSA 7, DIGENIC, INCLUDED|RP7 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 70 OMIM:615922 DO:DOID:0110392 MESH:D012174 C11.270.684/615922|C11.768.585.658.500/615922|C16.320.290.684/615922 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP70 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 71 OMIM:616394 DO:DOID:0110363 MESH:D012174 C11.270.684/616394|C11.768.585.658.500/616394|C16.320.290.684/616394 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP71 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 72 OMIM:616469 DO:DOID:0110395 MESH:D012174 C11.270.684/616469|C11.768.585.658.500/616469|C16.320.290.684/616469 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP72 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 73 OMIM:616544 DO:DOID:0110389 MESH:D012174 C11.270.684/616544|C11.768.585.658.500/616544|C16.320.290.684/616544 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP73 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 74 OMIM:616562 DO:DOID:0110401 MESH:D012174 C11.270.684/616562|C11.768.585.658.500/616562|C16.320.290.684/616562 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP74 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 75 OMIM:617023 DO:DOID:0110361 MESH:D012174 C11.270.684/617023|C11.768.585.658.500/617023|C16.320.290.684/617023 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP75 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 76 OMIM:617123 MESH:D012174 C11.270.684/617123|C11.768.585.658.500/617123|C16.320.290.684/617123 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP76 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 77 OMIM:617304 DO:DOID:0080350 MESH:D012174 C11.270.684/617304|C11.768.585.658.500/617304|C16.320.290.684/617304 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP77 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 78 OMIM:617433 MESH:D012174 C11.270.684/617433|C11.768.585.658.500/617433|C16.320.290.684/617433 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP78 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 79 OMIM:617460 MESH:D012174 C11.270.684/617460|C11.768.585.658.500/617460|C16.320.290.684/617460 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP79 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 7, Digenic MESH:C567263 MESH:D012174 C11.270.684/C567263|C11.768.585.658.500/C567263|C16.320.290.684/C567263 C11.270.684|C11.768.585.658.500|C16.320.290.684 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy MESH:C567264 MESH:D012174 C11.270.684/C567264|C11.768.585.658.500/C567264|C16.320.290.684/C567264 C11.270.684|C11.768.585.658.500|C16.320.290.684 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS OMIM:615434 DO:DOID:0110419 MESH:D012174|MESH:D012857 C11.270.684/615434|C11.768.585.658.500/615434|C16.131.810/615434|C16.320.290.684/615434 C11.270.684|C11.768.585.658.500|C16.131.810|C16.320.290.684 RP82 Congenital abnormality|Eye disease|Genetic disease (inborn) Retinitis Pigmentosa 9 MESH:C566716 DO:DOID:0110387|OMIM:180104 MESH:D012174 C11.270.684/C566716|C11.768.585.658.500/C566716|C16.320.290.684/C566716 C11.270.684|C11.768.585.658.500|C16.320.290.684 RP9 Eye disease|Genetic disease (inborn) RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS OMIM:616959 MESH:D012174 C11.270.684/616959|C11.768.585.658.500/616959|C16.320.290.684/616959 C11.270.684|C11.768.585.658.500|C16.320.290.684 RPEM Eye disease|Genetic disease (inborn) Retinitis Pigmentosa, Concentric MESH:C567712 MESH:D012174 C11.270.684/C567712|C11.768.585.658.500/C567712|C16.320.290.684/C567712 C11.270.684|C11.768.585.658.500|C16.320.290.684 Retinitis Pigmentosa 50 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism MESH:C564841 MESH:D006314|MESH:D007006|MESH:D008607|MESH:D012174 C09.218.458.341.562/C564841|C10.597.606.360/C564841|C10.597.751.418.341.562/C564841|C11.270.684/C564841|C11.768.585.658.500/C564841|C16.320.290.684/C564841|C19.391.482/C564841|C23.888.592.604.646/C564841|C23.888.592.763.393.341.562/C564841|F03.625.539/C564841 C09.218.458.341.562|C10.597.606.360|C10.597.751.418.341.562|C11.270.684|C11.768.585.658.500|C16.320.290.684|C19.391.482|C23.888.592.604.646|C23.888.592.763.393.341.562|F03.625.539 Ear-nose-throat disease|Endocrine system disease|Eye disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Retinitis Pigmentosa Inversa with Deafness MESH:C564842 MESH:D006319|MESH:D012174 C09.218.458.341.887/C564842|C10.597.751.418.341.887/C564842|C11.270.684/C564842|C11.768.585.658.500/C564842|C16.320.290.684/C564842|C23.888.592.763.393.341.887/C564842 C09.218.458.341.887|C10.597.751.418.341.887|C11.270.684|C11.768.585.658.500|C16.320.290.684|C23.888.592.763.393.341.887 Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Retinitis Pigmentosa, Late-Adult Onset MESH:C564840 MESH:D012174 C11.270.684/C564840|C11.768.585.658.500/C564840|C16.320.290.684/C564840 C11.270.684|C11.768.585.658.500|C16.320.290.684 Retinitis Pigmentosa, Senile Eye disease|Genetic disease (inborn) Retinitis Pigmentosa, Late-Onset Dominant MESH:C567369 MESH:D012174 C11.270.684/C567369|C11.768.585.658.500/C567369|C16.320.290.684/C567369 C11.270.684|C11.768.585.658.500|C16.320.290.684 Eye disease|Genetic disease (inborn) Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium MESH:C564000 MESH:D012174 C11.270.684/C564000|C11.768.585.658.500/C564000|C16.320.290.684/C564000 C11.270.684|C11.768.585.658.500|C16.320.290.684 Retinitis Pigmentosa, PRPE Type|RP with Preserved Paraarteriole Retinal Pigment Epithelium Eye disease|Genetic disease (inborn) Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness MESH:C567595 OMIM:300455 MESH:D003638|MESH:D012141|MESH:D012174|MESH:D040181 C01.748/C567595|C08.730/C567595|C09.218.458.341.186/C567595|C10.597.751.418.341.186/C567595|C11.270.684/C567595|C11.768.585.658.500/C567595|C16.320.290.684/C567595|C16.320.322/C567595|C23.888.592.763.393.341.186/C567595 C01.748|C08.730|C09.218.458.341.186|C10.597.751.418.341.186|C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.322|C23.888.592.763.393.341.186 RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS|RPSRDF Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Respiratory tract disease|Signs and symptoms Retinitis Pigmentosa, Y-Linked MESH:C564035 OMIM:400004 MESH:D012174|MESH:D050174 C11.270.684/C564035|C11.768.585.658.500/C564035|C16.320.290.684/C564035|C16.320.338/C564035 C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.338 RPY Eye disease|Genetic disease (inborn) Retinoblastoma MESH:D012175 DO:DOID:4648|DO:DOID:768|OMIM:180200 A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104) MESH:D015785|MESH:D018302|MESH:D019572 C04.557.465.625.600.725|C04.557.470.670.725|C04.557.580.625.600.725|C04.588.364.818.760|C11.270.862|C11.319.475.760|C11.768.717.760 C04.557.465.625.600|C04.557.470.670|C04.557.580.625.600|C04.588.364.818|C11.270|C11.319.475|C11.768.717 Cancer, Retinoblastoma Eye|Cancers, Retinoblastoma Eye|Eye Cancer, Retinoblastoma|Eye Cancers, Retinoblastoma|Familial Retinoblastoma|Familial Retinoblastomas|Glioblastoma, Retinal|Glioblastomas, Retinal|Glioma, Retinal|Gliomas, Retinal|Hereditary Retinoblastoma|Hereditary Retinoblastomas|Neuroblastoma, Retinal|Neuroblastomas, Retinal|RB|RB1|Retinal Glioblastoma|Retinal Glioblastomas|Retinal Glioma|Retinal Gliomas|Retinal Neuroblastoma|Retinal Neuroblastomas|Retinoblastoma Eye Cancer|Retinoblastoma Eye Cancers|Retinoblastoma, Familial|Retinoblastoma, Hereditary|Retinoblastomas|Retinoblastomas, Familial|Retinoblastomas, Hereditary|Retinoblastoma, Sporadic|Retinoblastomas, Sporadic|Sporadic Retinoblastoma|Sporadic Retinoblastomas Cancer|Eye disease Retinohepatoendocrinologic Syndrome MESH:C564839 MESH:D004700|MESH:D008107|MESH:D015785 C06.552/C564839|C11.270/C564839|C16.320.290/C564839|C19/C564839 C06.552|C11.270|C16.320.290|C19 Digestive system disease|Endocrine system disease|Eye disease|Genetic disease (inborn) Retinol-Binding Protein Deficiency MESH:C566711 MESH:D008661 C16.320.565/C566711|C18.452.648/C566711 C16.320.565|C18.452.648 Familial Hypo-RBP Genetic disease (inborn)|Metabolic disease Retinopathy of Prematurity MESH:D012178 DO:DOID:13025 A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed) MESH:D007235|MESH:D012164 C11.768.836|C16.614.521.731 C11.768|C16.614.521 Fibroplasia, Retrolental|Fibroplasias, Retrolental|Prematurity Retinopathies|Prematurity Retinopathy|Retrolental Fibroplasia|Retrolental Fibroplasias Eye disease|Infant-newborn disease Retinopathy, Pericentral Pigmentary, Autosomal Recessive MESH:C564838 MESH:D012174 C11.270.684/C564838|C11.768.585.658.500/C564838|C16.320.290.684/C564838 C11.270.684|C11.768.585.658.500|C16.320.290.684 Retinitis Pigmentosa, Pericentral Eye disease|Genetic disease (inborn) Retinopathy, Pericentral Pigmentary, Dominant MESH:C566713 MESH:D009755|MESH:D058499 C11.768.585.658/C566713|C11.966.671/C566713 C11.768.585.658|C11.966.671 Eye disease Retinoschisis MESH:D041441 DO:DOID:8465|OMIM:312700 A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis. MESH:D012162 C11.768.585.865 C11.768.585 Congenital X-Linked Retinoschises|Congenital X Linked Retinoschisis|Congenital X-Linked Retinoschisis|Degenerative Retinoschises|Degenerative Retinoschisis|Juvenile Retinoschises|Juvenile Retinoschises, X-Linked|Juvenile Retinoschisis|Juvenile Retinoschisis, X-Linked|Retinoschises|Retinoschises, Congenital X-Linked|Retinoschises, Degenerative|Retinoschises, Juvenile|Retinoschises, X-Linked|Retinoschises, X-Linked Juvenile|RETINOSCHISIS 1, X-LINKED, JUVENILE|Retinoschisis, Congenital X-Linked|Retinoschisis, Degenerative|Retinoschisis, Juvenile|Retinoschisis, Juvenile, X Chromosome-Linked|Retinoschisis, Juvenile, X-Linked|Retinoschisis, X Linked|Retinoschisis, X-Linked|Retinoschisis X-Linked Juvenile|Retinoschisis, X-Linked Juvenile|RS|RS1|X-Linked Juvenile Retinoschises|X Linked Juvenile Retinoschisis|X-Linked Juvenile Retinoschisis|X-Linked Retinoschises|X-Linked Retinoschises, Congenital|X Linked Retinoschisis|X-Linked Retinoschisis|X-Linked Retinoschisis, Congenital|XLRS1 Eye disease Retinoschisis, Autosomal Dominant MESH:C000598640 MESH:D041441 C11.768.585.865/C000598640 C11.768.585.865 Autosomal dominant retinoschisis|Retinoschisis autosomal dominant Eye disease Retinoschisis of Fovea MESH:C538369 MESH:D041441 C11.768.585.865/C538369 C11.768.585.865 Familial foveal retinoschisis|Foveal retinoschisis Eye disease Retrobulbar Hemorrhage MESH:D019315 Hemorrhage within the orbital cavity, posterior to the eyeball. MESH:D006470|MESH:D009916 C11.675.700|C23.550.414.960 C11.675|C23.550.414 Hemorrhage, Retrobulbar|Retrobulbar Hemorrhages Eye disease|Pathology (process) Retrocaval Ureter MESH:D064749 A rare congenital abnormality resulting in the URETER passing dorsal to and being obstructed by the INFERIOR VENA CAVA. MESH:D014564 C12.050.351.875.811|C12.200.706.811|C12.800.811|C16.131.939.915 C12.050.351.875|C12.200.706|C12.800|C16.131.939 Circumcaval Ureter|Ureter, Circumcaval|Ureter, Retrocaval Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Retrocochlear Diseases MESH:D012181 DO:DOID:2889 Pathological processes involving the VESTIBULOCOCHLEAR NERVE; BRAINSTEM; or CENTRAL NERVOUS SYSTEM. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss. MESH:D004427 C09.218.807 C09.218 Disease, Retrocochlear|Diseases, Retrocochlear|Hearing Loss, Retrocochlear|Retrocochlear Disease|Retrocochlear Hearing Loss Ear-nose-throat disease Retrognathia MESH:D063173 A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead. MESH:D007569|MESH:D008336 C05.500.460.827|C05.660.207.540.460.827|C07.320.440.827|C07.320.610.827|C07.650.500.460.827|C16.131.621.207.540.460.827|C16.131.850.500.460.827 C05.500.460|C05.660.207.540.460|C07.320.440|C07.320.610|C07.650.500.460|C16.131.621.207.540.460|C16.131.850.500.460 Mandibular Retroposition|Mandibular Retropositions|Mandibular Retrusion|Mandibular Retrusions|Maxillary Retroposition|Maxillary Retropositions|Maxillary Retrusion|Maxillary Retrusions|Retrognathias|Retrognathism|Retrognathisms|Retroposition, Mandibular|Retroposition, Maxillary|Retropositions, Mandibular|Retropositions, Maxillary|Retrusion, Mandibular|Retrusion, Maxillary|Retrusions, Mandibular|Retrusions, Maxillary Congenital abnormality|Mouth disease|Musculoskeletal disease Retrograde Degeneration MESH:D012183 Pathologic changes that occur in the axon and cell body of a neuron proximal to an axonal lesion. The process is characterized by central chromatolysis which features flattening and displacement of the nucleus, loss of Nissl bodies, and cellular edema. Central chromatolysis primarily occurs in lower motor neurons. MESH:D009410 C23.550.737.500 C23.550.737 Axonal Reaction|Axonal Reactions|Axon Reaction|Axon Reactions|Degeneration, Nissl|Degeneration, Retrograde|Degenerations, Retrograde|Degenerations, Transneuronal Retrograde|Degenerations, Trans-Synaptic|Degeneration, Transneuronal Retrograde|Degeneration, Trans-Synaptic|Nissl Degeneration|Reaction, Axon|Reaction, Axonal|Reactions, Axon|Reactions, Axonal|Retrograde Degenerations|Retrograde Degenerations, Transneuronal|Retrograde Degeneration, Transneuronal|Transneuronal Retrograde Degeneration|Transneuronal Retrograde Degenerations|Trans Synaptic Degeneration|Trans-Synaptic Degeneration|Trans-Synaptic Degenerations Pathology (process) Retroperitoneal Fibrosis MESH:D012185 A slowly progressive condition of unknown etiology, characterized by deposition of fibrous tissue in the retroperitoneal space compressing the ureters, great vessels, bile duct, and other structures. When associated with abdominal aortic aneurysm, it may be called chronic periaortitis or inflammatory perianeurysmal fibrosis. MESH:D005355 C23.550.355.700 C23.550.355 Chronic Periaortitides|Chronic Periaortitis|Disease, Ormond|Disease, Ormond's|Fibroses, Retroperitoneal|Fibrosis, Inflammatory Perianeurysmal|Fibrosis, Perianeurysmal Inflammatory|Fibrosis, Retroperitoneal|Idiopathic Retroperitoneal Fibrosis|Inflammatory Fibrosis, Perianeurysmal|Inflammatory Perianeurysmal Fibrosis|Ormond Disease|Ormond's Disease|Perianeurysmal Fibrosis, Inflammatory|Perianeurysmal Inflammatory Fibrosis|Periaortitides, Chronic|Periaortitis, Chronic|Retroperitoneal Fibroses Pathology (process) Retroperitoneal liposarcoma MESH:C538370 MESH:D008080|MESH:D012186 C04.557.450.550.420/C538370|C04.557.450.795.465/C538370|C04.588.033.731/C538370 C04.557.450.550.420|C04.557.450.795.465|C04.588.033.731 Giant pelvic retroperitoneal liposarcoma|Pelvic retroperitoneal liposarcoma Cancer Retroperitoneal Neoplasms MESH:D012186 DO:DOID:5875 New abnormal growth of tissue in the RETROPERITONEAL SPACE. MESH:D000008 C04.588.033.731 C04.588.033 Neoplasm, Retroperitoneal|Neoplasms, Retroperitoneal|Retroperitoneal Neoplasm Cancer Retropharyngeal Abscess MESH:D017703 An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries. MESH:D000038|MESH:D010612 C01.748.561.625|C01.830.025.780|C07.550.781.625|C08.730.561.625|C09.775.649.625 C01.748.561|C01.830.025|C07.550.781|C08.730.561|C09.775.649 Abscesses, Retropharyngeal|Abscess, Retropharyngeal|Retropharyngeal Abscesses Ear-nose-throat disease|Mouth disease|Respiratory tract disease Retropneumoperitoneum MESH:D012188 Pathological or accidental introduction of air into the retroperitoneal space. MESH:D010335|MESH:D014947 C23.550.794|C26.748 C23.550|C26 Pneumoretroperitoneum Pathology (process)|Wounds and injuries Retroviridae Infections MESH:D012192 Virus diseases caused by the RETROVIRIDAE. MESH:D012327 C01.925.782.815 C01.925.782 Infection, Retroviridae|Infection, Retrovirus|Infections, Retroviridae|Infections, Retrovirus|Infections, XMRV|Infection, XMRV|Retroviridae Infection|Retrovirus Infection|Retrovirus Infections|Xenotropic MuLV related Virus Infection|Xenotropic MuLV-related Virus Infection|Xenotropic Murine Leukemia Virus related Virus Infection|Xenotropic Murine Leukemia Virus-related Virus Infection|XMRV Infection|XMRV Infections Viral disease Rett Syndrome MESH:D015518 DO:DOID:1206|OMIM:312750 An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) MESH:D038901 C10.597.606.360.455.937|C16.320.322.500.937|C16.320.400.525.937 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use|AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED|Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome|Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome|Cerebroatrophic Hyperammonemia|Cerebroatrophic Hyperammonemias|Hyperammonemia, Cerebroatrophic|Hyperammonemias, Cerebroatrophic|Rett Disorder|Rett's Disorder|Rett's Syndrome|Retts Syndrome|RETT SYNDROME, ATYPICAL, INCLUDED|RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED|RTS|RTT|Syndrome, Rett|Syndrome, Rett's Genetic disease (inborn)|Nervous system disease Rett Syndrome, Atypical MESH:C567576 MESH:D015518 C10.597.606.360.455.937/C567576|C16.320.322.500.937/C567576|C16.320.400.525.937/C567576 C10.597.606.360.455.937|C16.320.322.500.937|C16.320.400.525.937 Genetic disease (inborn)|Nervous system disease RETT SYNDROME, CONGENITAL VARIANT OMIM:613454 DO:DOID:1206 MESH:D015518 C10.597.606.360.455.937/613454|C16.320.322.500.937/613454|C16.320.400.525.937/613454 C10.597.606.360.455.937|C16.320.322.500.937|C16.320.400.525.937 Genetic disease (inborn)|Nervous system disease Rett Syndrome, Preserved Speech Variant MESH:C564063 MESH:D015518 C10.597.606.360.455.937/C564063|C16.320.322.500.937/C564063|C16.320.400.525.937/C564063 C10.597.606.360.455.937|C16.320.322.500.937|C16.320.400.525.937 Genetic disease (inborn)|Nervous system disease Rett Syndrome, Zappella Variant MESH:C567442 MESH:D015518 C10.597.606.360.455.937/C567442|C16.320.322.500.937/C567442|C16.320.400.525.937/C567442 C10.597.606.360.455.937|C16.320.322.500.937|C16.320.400.525.937 Genetic disease (inborn)|Nervous system disease Reversed halo sign MESH:C000721353 MESH:D008171 C08.381/C000721353 C08.381 Atoll sign, pulmonary|Reverse halo sign Respiratory tract disease Revesz Debuse syndrome MESH:C538371 OMIM:268130 MESH:D001851 C05.116.198/C538371|C18.452.104/C538371 C05.116.198|C18.452.104 DKCA5|DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 5|Exudative retinopathy with bone marrow failure|Revesz Syndrome Metabolic disease|Musculoskeletal disease Reye Syndrome MESH:D012202 DO:DOID:14525 A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism. MESH:D001928|MESH:D005234 C06.552.241.649|C10.228.140.163.780|C18.452.132.780 C06.552.241|C10.228.140.163|C18.452.132 Adult Reye's Syndrome|Adult Reye Syndrome|Fatty Liver with Encephalopathy|Reye Johnson Syndrome|Reye-Johnson Syndrome|Reye Like Syndrome|Reye-Like Syndrome|Reye's Like Syndrome|Reye's-Like Syndrome|Reye's Syndrome|Reye's Syndrome, Adult|Reye Syndrome, Adult Digestive system disease|Metabolic disease|Nervous system disease REYNOLDS SYNDROME OMIM:613471 MESH:D008105|MESH:D011928|MESH:D012595|MESH:D013684 C06.130.120.135.250.250/613471|C06.552.150.250/613471|C06.552.630.400/613471|C14.907.355.830.573.750/613471|C14.907.617.812/613471|C14.907.823/613471|C17.300.799/613471|C17.800.784/613471|C17.800.862.406.750/613471|C23.550.355.412.400/613471 C06.130.120.135.250.250|C06.552.150.250|C06.552.630.400|C14.907.355.830.573.750|C14.907.617.812|C14.907.823|C17.300.799|C17.800.784|C17.800.862.406.750|C23.550.355.412.400 PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA Cardiovascular disease|Connective tissue disease|Digestive system disease|Pathology (process)|Skin disease Rhabditida Infections MESH:D017196 Infections with nematodes of the order RHABDITIDA. MESH:D017190 C01.610.335.508.700.700 C01.610.335.508.700 Infection, Rhabditida|Infections, Rhabditida|Rhabditida Infection Parasitic disease Rhabdoid Tumor MESH:D018335 DO:DOID:3672 A rare but highly lethal childhood tumor found almost exclusively in infants. Histopathologically, it resembles RHABDOMYOSARCOMA but the tumor cells are not of myogenic origin. Although it arises primarily in the kidney, it may be found in other parts of the body. The rhabdoid cytomorphology is believed to be the expression of a very primitive malignant cell. (From Holland et al., Cancer Medicine, 3d ed, p2210) MESH:D018193 C04.557.435.710 C04.557.435 Rhabdoid Tumors|Tumor, Rhabdoid|Tumors, Rhabdoid Cancer Rhabdoid Tumor Predisposition Syndrome 1 MESH:C563738 OMIM:609322 MESH:D001932|MESH:D007680|MESH:D018335 C04.557.435.710/C563738|C04.588.614.250.195/C563738|C04.588.945.947.535/C563738|C10.228.140.211/C563738|C10.551.240.250/C563738|C12.050.351.937.820.535/C563738|C12.050.351.968.419.473/C563738|C12.200.758.820.750/C563738|C12.200.777.419.473/C563738|C12.900.820.535/C563738|C12.950.419.473/C563738|C12.950.983.535/C563738 C04.557.435.710|C04.588.614.250.195|C04.588.945.947.535|C10.228.140.211|C10.551.240.250|C12.050.351.937.820.535|C12.050.351.968.419.473|C12.200.758.820.750|C12.200.777.419.473|C12.900.820.535|C12.950.419.473|C12.950.983.535 AT/RT, INCLUDED|Brain Tumor, Posterior Fossa, of Infancy, Familial|BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL MALIGNANT RHABDOID TUMOR, SOMATIC, INCLUDED|Malignant Rhabdoid Tumor, Somatic|RDT, INCLUDED|RHABDOID TUMOR, INCLUDED|RTPS1|TERATOID TUMOR, ATYPICAL, INCLUDED Cancer|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Rhabdoid Tumor Predisposition Syndrome 2 MESH:C567643 OMIM:613325 MESH:D018335 C04.557.435.710/C567643 C04.557.435.710 RTPS2 Cancer Rhabdomyolysis MESH:D012206 Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. MESH:D009135 C05.651.807 C05.651 Rhabdomyolyses Musculoskeletal disease Rhabdomyolysis, Cerivastatin-Induced MESH:C563387 MESH:D012206 C05.651.807/C563387 C05.651.807 Musculoskeletal disease Rhabdomyoma MESH:D012207 A benign tumor derived from striated muscle. It is extremely rare, generally occurring in the tongue, neck muscles, larynx, uvula, nasal cavity, axilla, vulva, and heart. These tumors are treated by simple excision. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354) MESH:D009214 C04.557.450.590.540.700 C04.557.450.590.540 Rhabdomyomas Cancer Rhabdomyosarcoma MESH:D012208 DO:DOID:3247 A malignant solid tumor arising from mesenchymal tissues which normally differentiate to form striated muscle. It can occur in a wide variety of sites. It is divided into four distinct types: pleomorphic, predominantly in male adults; alveolar (RHABDOMYOSARCOMA, ALVEOLAR), mainly in adolescents and young adults; embryonal (RHABDOMYOSARCOMA, EMBRYONAL), predominantly in infants and children; and botryoidal, also in young children. It is one of the most frequently occurring soft tissue sarcomas and the most common in children under 15. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p2186; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1647-9) MESH:D009217 C04.557.450.590.550.660|C04.557.450.795.550.660 C04.557.450.590.550|C04.557.450.795.550 Rhabdomyosarcomas Cancer Rhabdomyosarcoma 1 MESH:C537883 OMIM:268210 MESH:D012208 C04.557.450.590.550.660/C537883|C04.557.450.795.550.660/C537883 C04.557.450.590.550.660|C04.557.450.795.550.660 RHABDOMYOSARCOMA 1|Rhabdomyosarcoma Chromosomal Region|Rhabdomyosarcoma embryonal 1|Rhabdomyosarcoma, Embryonal, 1|RMS1|RMSCR|RMSE1 Cancer Rhabdomyosarcoma, Alveolar MESH:D018232 DO:DOID:4051|OMIM:268220 A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. 'Alveolar' refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188) MESH:D012208 C04.557.450.590.550.660.665|C04.557.450.795.550.660.665 C04.557.450.590.550.660|C04.557.450.795.550.660 Alveolar Rhabdomyosarcoma|Alveolar Rhabdomyosarcomas|Rhabdomyosarcoma 2|RHABDOMYOSARCOMA, ALVEOLAR|Rhabdomyosarcomas, Alveolar|RMS2|RMSA Cancer Rhabdomyosarcoma, Embryonal MESH:D018233 DO:DOID:3246 A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188) MESH:D012208 C04.557.450.590.550.660.675|C04.557.450.795.550.660.675 C04.557.450.590.550.660|C04.557.450.795.550.660 Embryonal Rhabdomyosarcoma|Embryonal Rhabdomyosarcomas|Rhabdomyosarcomas, Embryonal Cancer Rhabdomyosarcoma, Embryonal, 2 MESH:C566709 OMIM:180295 MESH:D012208 C04.557.450.590.550.660/C566709|C04.557.450.795.550.660/C566709 C04.557.450.590.550.660|C04.557.450.795.550.660 RMSE2 Cancer Rhabdomyosarcoma of the orbit MESH:C537605 DO:DOID:3259 MESH:D009918|MESH:D018232 C04.557.450.590.550.660.665/C537605|C04.557.450.795.550.660.665/C537605|C04.588.149.721.656/C537605|C04.588.364.659/C537605|C05.116.231.754.659/C537605|C11.319.457/C537605|C11.675.659/C537605 C04.557.450.590.550.660.665|C04.557.450.795.550.660.665|C04.588.149.721.656|C04.588.364.659|C05.116.231.754.659|C11.319.457|C11.675.659 Cancer|Eye disease|Musculoskeletal disease Rhabdoviridae Infections MESH:D018353 Virus diseases caused by RHABDOVIRIDAE. Important infections include RABIES; EPHEMERAL FEVER; and vesicular stomatitis. MESH:D018701 C01.925.782.580.830 C01.925.782.580 Infection, Rhabdoviridae|Infections, Rhabdoviridae|Rhabdoviridae Infection Viral disease Rh Deficiency Syndrome MESH:C562717 DO:DOID:0050641 MESH:D030342 C16.320/C562717 C16.320 Genetic disease (inborn) Rhegmatogenous Retinal Detachment, Autosomal Dominant MESH:C563710 MESH:D012163|MESH:D015785 C11.270/C563710|C11.768.648/C563710|C16.320.290/C563710 C11.270|C11.768.648|C16.320.290 DRRD Eye disease|Genetic disease (inborn) Rheumatic Diseases MESH:D012216 Disorders of connective tissue, especially the joints and related structures, characterized by inflammation, degeneration, or metabolic derangement. MESH:D003240|MESH:D009140 C05.799|C17.300.775 C05|C17.300 Disease, Rheumatic|Diseases, Rheumatic|Rheumatic Disease|Rheumatism Connective tissue disease|Musculoskeletal disease Rheumatic Fever MESH:D012213 DO:DOID:1586 A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin. MESH:D001168|MESH:D012216|MESH:D013290 C01.150.252.410.890.731|C05.550.114.843|C05.799.825|C17.300.775.860 C01.150.252.410.890|C05.550.114|C05.799|C17.300.775 Acute Articular Rheumatism|Acute Articular Rheumatisms|Acute Rheumatic Arthritides|Acute Rheumatic Arthritis|Acute Rheumatic Fever|Acute Rheumatic Fevers|Arthritis, Acute Rheumatic|Arthritis, Rheumatic|Arthritis, Rheumatic, Acute|Articular Rheumatism, Acute|Fever, Acute Rheumatic|Fever, Rheumatic|Fevers, Acute Rheumatic|Inflammatory Rheumatism|Inflammatory Rheumatisms|Polyarthritis Rheumatica|Polyarthritis Rheumaticas|Rheumatic Arthritides|Rheumatic Arthritis|Rheumatic Arthritis, Acute|Rheumatic Fever, Acute|Rheumatic Fevers|Rheumatism, Acute Articular|Rheumatism, Articular, Acute|Rheumatism, Inflammatory Bacterial infection or mycosis|Connective tissue disease|Musculoskeletal disease Rheumatic Heart Disease MESH:D012214 DO:DOID:0050827 Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM. MESH:D006331|MESH:D012213 C01.150.252.410.890.731.649|C14.280.874 C01.150.252.410.890.731|C14.280 Bouillaud Disease|Bouillaud's Disease|Bouillauds Disease|Disease, Bouillaud|Disease, Bouillaud's|Disease, Rheumatic Heart|Diseases, Rheumatic Heart|Heart Disease, Rheumatic|Heart Diseases, Rheumatic|Rheumatic Heart Diseases Bacterial infection or mycosis|Cardiovascular disease Rheumatic Nodule MESH:D012215 A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed) MESH:D012213 C05.550.114.843.566|C05.799.825.566 C05.550.114.843|C05.799.825 Aschoff Bodies|Bodies, Aschoff|Nodule, Rheumatic|Nodules, Rheumatic|Rheumatic Nodules Musculoskeletal disease Rheumatoid Arthritis, Systemic Juvenile MESH:C565798 OMIM:604302 MESH:D001171 C05.550.114.122/C565798|C05.799.056/C565798|C17.300.775.049/C565798|C20.111.198/C565798 C05.550.114.122|C05.799.056|C17.300.775.049|C20.111.198 Systemic Juvenile Rheumatoid Arthritis Connective tissue disease|Immune system disease|Musculoskeletal disease Rheumatoid Nodule MESH:D012218 Subcutaneous nodules seen in 20-30% of rheumatoid arthritis patients. They may arise anywhere on the body, but are most frequently found over the bony prominences. The nodules are characterized histologically by dense areas of fibrinoid necrosis with basophilic streaks and granules, surrounded by a palisade of cells, mainly fibroblasts and histiocytes. MESH:D001172 C05.550.114.154.683|C05.799.114.683|C17.300.775.099.683 C05.550.114.154|C05.799.114|C17.300.775.099 Nodule, Rheumatoid|Nodules, Rheumatoid|Rheumatoid Nodules|Rheumatoid Noduloses|Rheumatoid Nodulosis Connective tissue disease|Musculoskeletal disease Rheumatoid Vasculitis MESH:D056653 Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ULCERS, peripheral GANGRENE, and MONONEURITIS MULTIPLEX. MESH:D001172|MESH:D056647 C05.550.114.154.728|C05.799.114.728|C14.907.940.897.750|C17.300.775.099.728|C20.111.199.581 C05.550.114.154|C05.799.114|C14.907.940.897|C17.300.775.099|C20.111.199 Rheumatoid Vasculitides|Vasculitides, Rheumatoid|Vasculitis, Rheumatoid Cardiovascular disease|Connective tissue disease|Immune system disease|Musculoskeletal disease Rhinitis MESH:D012220 DO:DOID:4483 Inflammation of the NASAL MUCOSA, the mucous membrane lining the NASAL CAVITIES. MESH:D009668|MESH:D012141 C01.748.674|C08.460.799|C08.730.674|C09.603.799 C01.748|C08.460|C08.730|C09.603 Catarrh, Nasal|Catarrhs, Nasal|Nasal Catarrh|Nasal Catarrhs|Rhinitides Ear-nose-throat disease|Respiratory tract disease Rhinitis, Allergic MESH:D065631 OMIM:607154 An inflammation of the NASAL MUCOSA triggered by ALLERGENS. MESH:D012130|MESH:D012220 C08.460.799.315|C08.674.453|C09.603.799.315|C20.543.480.680.443 C08.460.799|C08.674|C09.603.799|C20.543.480.680 Allergic Rhinitides|Allergic Rhinitis|ALRH|Rhinitides, Allergic Ear-nose-throat disease|Immune system disease|Respiratory tract disease Rhinitis, Allergic, Perennial MESH:D012221 Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc. MESH:D065631 C08.460.799.315.500|C08.674.453.500|C09.603.799.315.500|C20.543.480.680.443.500 C08.460.799.315|C08.674.453|C09.603.799.315|C20.543.480.680.443 Rhinitis, Allergic, Nonseasonal Ear-nose-throat disease|Immune system disease|Respiratory tract disease Rhinitis, Allergic, Seasonal MESH:D006255 Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS. MESH:D065631 C08.460.799.315.750|C08.674.453.750|C09.603.799.315.750|C20.543.480.680.443.750 C08.460.799.315|C08.674.453|C09.603.799.315|C20.543.480.680.443 Allergic Rhinitides, Seasonal|Allergic Rhinitis, Seasonal|Allergies, Pollen|Allergy, Pollen|Fever, Hay|Hayfever|Hay Fever|Pollen Allergies|Pollen Allergy|Pollinoses|Pollinosis|Rhinitides, Seasonal Allergic|Rhinitis, Seasonal Allergic|Seasonal Allergic Rhinitides|Seasonal Allergic Rhinitis Ear-nose-throat disease|Immune system disease|Respiratory tract disease Rhinitis, Atrophic MESH:D012222 DO:DOID:4731 A chronic inflammation in which the NASAL MUCOSA gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony TURBINATES, and the foul-smelling mucus which forms a greenish crust (ozena). MESH:D012220 C08.460.799.649|C09.603.799.649 C08.460.799|C09.603.799 Atrophic Rhinitides|Atrophic Rhinitis|Ozena|Ozenas|Rhinitides, Atrophic Ear-nose-throat disease|Respiratory tract disease Rhinitis, Vasomotor MESH:D012223 DO:DOID:4730 A form of non-allergic rhinitis that is characterized by nasal congestion and posterior pharyngeal drainage. MESH:D012220 C08.460.799.910|C09.603.799.910 C08.460.799|C09.603.799 Rhinitides, Vasomotor|Vasomotor Rhinitides|Vasomotor Rhinitis Ear-nose-throat disease|Respiratory tract disease Rhinophyma MESH:D012224 A manifestation of severe ROSACEA resulting in significant enlargement of the NOSE and occurring primarily in men. It is caused by hypertrophy of the SEBACEOUS GLANDS and surrounding CONNECTIVE TISSUE. The nose is reddened and marked with TELANGIECTASIS. MESH:D012393|MESH:D012625 C17.800.716.500|C17.800.794.650 C17.800.716|C17.800.794 Rhinophymas Skin disease Rhinorrhea MESH:D000086722 Excess nasal drainage. MESH:D012818 C23.888.852.834 C23.888.852 Nose, Runny|Runny Nose Signs and symptoms Rhinoscleroma MESH:D012226 DO:DOID:11336 A granulomatous disease caused by KLEBSIELLA RHINOSCLEROMATIS infection. Despite its name, this disease is not limited to the nose and NASOPHARYNX but may affect any part of the RESPIRATORY TRACT, sometimes with extension to the lip and the skin. MESH:D007710|MESH:D009668|MESH:D012141|MESH:D017192 C01.150.252.400.310.503.500|C01.150.252.819.705|C01.748.702|C01.800.720.705|C08.460.850|C08.730.702|C09.603.850|C17.800.838.765.705 C01.150.252.400.310.503|C01.150.252.819|C01.748|C01.800.720|C08.460|C08.730|C09.603|C17.800.838.765 Scleroma, Nasal Bacterial infection or mycosis|Ear-nose-throat disease|Respiratory tract disease|Skin disease Rhinosporidiosis MESH:D012227 DO:DOID:2409 Chronic, localized granulomatous infection of mucocutaneous tissues, especially the NOSE, and characterized by HYPERPLASIA and the development of POLYPS. It is found in humans and other animals and is caused by the mesomycetozoean organism RHINOSPORIDIUM SEEBERI. MESH:D050738 C01.610.600.700 C01.610.600 Infection, Rhinosporidium seeberi|Rhinosporidioses|Rhinosporidium seeberi Infection|Rhinosporidium seeberi Infections Parasitic disease Rhiny MESH:C566708 MESH:D000013 C16.131/C566708 C16.131 Congenital abnormality Rhizomelic chondrodysplasia punctata, type 1 MESH:C531651 OMIM:215100 MESH:D018902 C05.116.099.708.195.200/C531651|C16.320.565.663.265/C531651|C18.452.648.663.265/C531651 C05.116.099.708.195.200|C16.320.565.663.265|C18.452.648.663.265 CDPR|CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM|Chondrodystrophia calcificans punctata|PBD9|PEROXISOME BIOGENESIS DISORDER 9|RCDP1 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Rhizomelic chondrodysplasia punctata, type 2 MESH:C537607 DO:DOID:0110852|OMIM:222765 MESH:D018902 C05.116.099.708.195.200/C537607|C16.320.565.663.265/C537607|C18.452.648.663.265/C537607 C05.116.099.708.195.200|C16.320.565.663.265|C18.452.648.663.265 Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency|Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency|DHAPAT deficiency|Dihydroxyacetonephosphate acyltransferase deficiency|Glyceronephosphate acyltransferase deficiency|Glyceronephosphate O-Acyltransferase Deficiency|GNPAT deficiency|Human dihydroxyacetonephosphate acyltransferase deficiency|Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|RCDP2|Type 2 rhizomelic chondrodysplasia punctata Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Rhizomelic chondrodysplasia punctata, type 3 MESH:C537608 DO:DOID:0110853|OMIM:600121 MESH:D018902 C05.116.099.708.195.200/C537608|C16.320.565.663.265/C537608|C18.452.648.663.265/C537608 C05.116.099.708.195.200|C16.320.565.663.265|C18.452.648.663.265 AGPS deficiency|Alkyldihydroxyacetonephosphate synthase deficiency|Alkylglycerone-Phosphate Synthase Deficiency|RCDP3 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 OMIM:616716 DO:DOID:0110854 MESH:D018902 C05.116.099.708.195.200/616716|C16.320.565.663.265/616716|C18.452.648.663.265/616716 C05.116.099.708.195.200|C16.320.565.663.265|C18.452.648.663.265 RCDP5 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Rhizomelic dysplasia Patterson Lowry type MESH:C537609 MESH:D001848|MESH:D006228 C05.116.099/C537609|C05.390.408/C537609|C05.660.585.988.425/C537609|C16.131.621.585.988.500/C537609 C05.116.099|C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Patterson-Lowry rhizomelic dysplasia|Patterson Lowry syndrome|Rhizomelic Dysplasia, Patterson-Lowry Type Congenital abnormality|Musculoskeletal disease Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa MESH:C537610 MESH:D001848|MESH:D006130|MESH:D012174|MESH:D012600 C05.116.099/C537610|C05.116.900.800.875/C537610|C11.270.684/C537610|C11.768.585.658.500/C537610|C16.320.290.684/C537610|C23.550.393/C537610 C05.116.099|C05.116.900.800.875|C11.270.684|C11.768.585.658.500|C16.320.290.684|C23.550.393 Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Rhizomelic syndrome MESH:C537611 MESH:D001848 C05.116.099/C537611 C05.116.099 Familial rhizomelic dysplasia|Rhizomelic dysplasia, familial Musculoskeletal disease Rhizomucor pusillus infection MESH:C000656949 MESH:D009091 C01.150.703.980.600/C000656949 C01.150.703.980.600 Mucor pusillus infection|Mucor pusillus infections|R pusillus infection|R. pusillus infection Bacterial infection or mycosis Rhizopus infection MESH:C000656944 MESH:D009091 C01.150.703.980.600/C000656944 C01.150.703.980.600 Rhizopus infections Bacterial infection or mycosis Rh-Null Disease, Amorph Type MESH:C566210 MESH:D000745 C15.378.071.141.150/C566210|C16.320.070/C566210 C15.378.071.141.150|C16.320.070 Blood disease|Genetic disease (inborn) Rh-Null, Regulator Type MESH:C564833 OMIM:268150 MESH:D006402 C15.378/C564833 C15.378 RH DEFICIENCY SYNDROME, INCLUDED|RHNR|Rh-Null Disease|RH-NULL DISEASE, REGULATOR TYPE RH-MOD, INCLUDED|RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE Blood disease rhupus syndrome MESH:C000717167 MESH:D001172|MESH:D008180 C05.550.114.154/C000717167|C05.799.114/C000717167|C17.300.480/C000717167|C17.300.775.099/C000717167|C20.111.199/C000717167|C20.111.590/C000717167 C05.550.114.154|C05.799.114|C17.300.480|C17.300.775.099|C20.111.199|C20.111.590 Connective tissue disease|Immune system disease|Musculoskeletal disease RHYNS syndrome MESH:C537612 MESH:D007018|MESH:D012174 C10.228.140.617.738.300/C537612|C11.270.684/C537612|C11.768.585.658.500/C537612|C16.320.290.684/C537612|C19.700.482/C537612 C10.228.140.617.738.300|C11.270.684|C11.768.585.658.500|C16.320.290.684|C19.700.482 Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia|Retinitis pigmentosa syndrome Endocrine system disease|Eye disease|Genetic disease (inborn)|Nervous system disease Ribbing disease MESH:C537613 MESH:D003966|MESH:D010017 C04.557.450.565.575.625.625/C537613|C05.116.099.708.180/C537613|C16.320.144/C537613 C04.557.450.565.575.625.625|C05.116.099.708.180|C16.320.144 Diaphyseal sclerosis, multiple|Hereditary multiple diaphyseal sclerosis|Multiple diaphyseal sclerosis Cancer|Genetic disease (inborn)|Musculoskeletal disease Rib Fractures MESH:D012253 Fractures of any of the RIBS. MESH:D013898|MESH:D050723 C26.404.593|C26.891.733 C26.404|C26.891 Fracture, Rib|Fractures, Rib|Rib Fracture Wounds and injuries Riboflavin Deficiency MESH:D012257 DO:DOID:8454|OMIM:615026 A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed) MESH:D014804 C18.654.521.500.133.699.713 C18.654.521.500.133.699 Deficiencies, Riboflavin|Deficiency, Riboflavin|RBFVD|Riboflavin Deficiencies|RIBOFLAVIN TRANSPORTER DEFICIENCY, TYPE 1|RTD1 Nutrition disorder Ribose 5-Phosphate Isomerase Deficiency MESH:C563212 OMIM:608611 MESH:D002239|MESH:D011115|MESH:D056784 C10.228.140.695/C563212|C10.668.829.800/C563212|C16.320.565.202/C563212|C18.452.648.202/C563212 C10.228.140.695|C10.668.829.800|C16.320.565.202|C18.452.648.202 RPIAD Genetic disease (inborn)|Metabolic disease|Nervous system disease Richards-Rundle syndrome MESH:C535674 MESH:D000592|MESH:D001259|MESH:D003638|MESH:D007006|MESH:D008607 C09.218.458.341.186/C535674|C10.597.350.090/C535674|C10.597.606.360/C535674|C10.597.751.418.341.186/C535674|C16.320.565.100/C535674|C18.452.648.100/C535674|C19.391.482/C535674|C23.888.592.350.090/C535674|C23.888.592.604.646/C535674|C23.888.592.763.393.341.186/C535674|F03.625.539/C535674 C09.218.458.341.186|C10.597.350.090|C10.597.606.360|C10.597.751.418.341.186|C16.320.565.100|C18.452.648.100|C19.391.482|C23.888.592.350.090|C23.888.592.604.646|C23.888.592.763.393.341.186|F03.625.539 Ataxia-deafness-retardation syndrome with ketoaciduria|Familial ataxia-hypogonadism syndrome|Ketoaciduria-mental deficiency syndrome|Ketoaciduria With Mental Deficiency And Other Features Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms Richieri Costa Da Silva syndrome MESH:C535675 MESH:D004480 C05.660.585.350/C535675|C16.131.621.585.350/C535675 C05.660.585.350|C16.131.621.585.350 Tibial hemimelia-split hand-foot syndrome Congenital abnormality|Musculoskeletal disease Richieri Costa Guion-Almeida syndrome MESH:C535676 MESH:D005532|MESH:D006228|MESH:D008342 C05.116.099.370.231.576/C535676|C05.330.495/C535676|C05.390.408/C535676|C05.660.207.231.576/C535676|C05.660.585.512.380/C535676|C05.660.585.988.425/C535676|C11.270.147.750/C535676|C16.131.621.207.231.576/C535676|C16.131.621.585.512.500/C535676|C16.131.621.585.988.500/C535676 C05.116.099.370.231.576|C05.330.495|C05.390.408|C05.660.207.231.576|C05.660.585.512.380|C05.660.585.988.425|C11.270.147.750|C16.131.621.207.231.576|C16.131.621.585.512.500|C16.131.621.585.988.500 Acrofacial dysostosis Richieri Costa Guion-Almeida type|Richieri-Costa Guion-Almeida Cohen syndrome|Richieri Costa Guion-Almeida dwarfism Congenital abnormality|Eye disease|Musculoskeletal disease Richieri Costa Pereira syndrome MESH:C535677 OMIM:268305 MESH:D003025|MESH:D006228|MESH:D010855 C05.330.488.655.063/C535677|C05.330.495.681.063/C535677|C05.390.408/C535677|C05.500.460.606/C535677|C05.660.207.540.460.606/C535677|C05.660.585.512.380.813.063/C535677|C05.660.585.988.425/C535677|C07.320.440.606/C535677|C07.650.500.460.606/C535677|C16.131.621.207.540.460.606/C535677|C16.131.621.585.512.500.681.063/C535677|C16.131.621.585.988.500/C535677|C16.131.850.500.460.606/C535677 C05.330.488.655.063|C05.330.495.681.063|C05.390.408|C05.500.460.606|C05.660.207.540.460.606|C05.660.585.512.380.813.063|C05.660.585.988.425|C07.320.440.606|C07.650.500.460.606|C16.131.621.207.540.460.606|C16.131.621.585.512.500.681.063|C16.131.621.585.988.500|C16.131.850.500.460.606 RCPS|Richieri-Costa and Pereira form of acrofacial dysostosis|Richieri-Costa-Pereira Syndrome|Robin sequence with cleft mandible and limb anomalies Congenital abnormality|Mouth disease|Musculoskeletal disease Rickets MESH:D012279 DO:DOID:10609 Disorders caused by interruption of BONE MINERALIZATION manifesting as OSTEOMALACIA in adults and characteristic deformities in infancy and childhood due to disturbances in normal BONE FORMATION. The mineralization process may be interrupted by disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis, resulting from dietary deficiencies, or acquired, or inherited metabolic, or hormonal disturbances. MESH:D001851|MESH:D002128|MESH:D014808 C05.116.198.816|C18.452.104.816|C18.452.174.845|C18.654.521.500.133.770.734 C05.116.198|C18.452.104|C18.452.174|C18.654.521.500.133.770 Rachitides|Rachitis Metabolic disease|Musculoskeletal disease|Nutrition disorder Rickets, Hypophosphatemic MESH:D063730 A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism. MESH:D012279|MESH:D017674 C05.116.198.816.875|C18.452.104.816.875|C18.452.174.845.875|C18.452.750.400.750|C18.654.521.500.133.770.734.875 C05.116.198.816|C18.452.104.816|C18.452.174.845|C18.452.750.400|C18.654.521.500.133.770.734 Acquired Vitamin D Resistant Rickets|Acquired Vitamin D-Resistant Rickets|Hypophosphatemia, Vitamin D-Resistant Rickets|Hypophosphatemic Ricket|Hypophosphatemic Rickets|Hypophosphatemic Vitamin D Resistant Rickets|Hypophosphatemic Vitamin D-Resistant Rickets|Ricket, Hypophosphatemic|Rickets, Vitamin D Resistant|Rickets, Vitamin D-Resistant|Vitamin D-Resistant Rickets Metabolic disease|Musculoskeletal disease|Nutrition disorder Rickettsiaceae Infections MESH:D012288 Infections with bacteria of the family RICKETTSIACEAE. MESH:D000079426|MESH:D016905 C01.150.252.400.789|C01.920.914 C01.150.252.400|C01.920 Infection, Rickettsiaceae|Infections, Rickettsiaceae|Rickettsiaceae Infection Bacterial infection or mycosis Rickettsia Infections MESH:D012282 Infections by the genus RICKETTSIA. MESH:D012288 C01.150.252.400.789.725|C01.920.914.725 C01.150.252.400.789|C01.920.914 Infection, Rickettsia|Infections, Rickettsia|Rickettsia Infection|Rickettsial Disease|Rickettsial Diseases|Rickettsioses|Rickettsiosis Bacterial infection or mycosis Riddle Syndrome MESH:C567453 DO:DOID:0090113|OMIM:611943 MESH:D000081207|MESH:D007859|MESH:D019465 C05.660.207/C567453|C10.597.606.150.550/C567453|C16.131.621.207/C567453|C16.320.798/C567453|C20.673.795/C567453|C23.888.592.604.150.550/C567453|F03.625.562/C567453 C05.660.207|C10.597.606.150.550|C16.131.621.207|C16.320.798|C20.673.795|C23.888.592.604.150.550|F03.625.562 RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FACIAL FEATURES, AND LEARNING DIFFICULTIES|Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties|RIDL Congenital abnormality|Genetic disease (inborn)|Immune system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Ridges-off-the-end syndrome MESH:C531754 MESH:D012868 C16.131.831/C531754|C17.800.804/C531754 C16.131.831|C17.800.804 Dermal Ridges-Off-The-End Congenital abnormality|Skin disease Rieger syndrome 2 MESH:C535680 MESH:D005124 C11.250/C535680|C16.131.384/C535680 C11.250|C16.131.384 Axenfeld-Rieger syndrome type 2|Axenfeld-Rieger Syndrome, Type 2|Rieger syndrome type 2|Rieger Syndrome, Type 2 Congenital abnormality|Eye disease Rift Valley Fever MESH:D012295 DO:DOID:1328 An acute infection caused by the RIFT VALLEY FEVER VIRUS, an RNA arthropod-borne virus, affecting domestic animals and humans. In animals, symptoms include HEPATITIS; abortion (ABORTION, VETERINARY); and DEATH. In humans, symptoms range from those of a flu-like disease to hemorrhagic fever, ENCEPHALITIS, or BLINDNESS. MESH:D001102|MESH:D002044|MESH:D006482|MESH:D006524 C01.436.430.812|C01.920.500.770|C01.925.081.810|C01.925.407.810|C01.925.782.147.810|C01.925.782.417.762|C06.552.380.315.430.812|C22.467.435.812 C01.436.430|C01.920.500|C01.925.081|C01.925.407|C01.925.782.147|C01.925.782.417|C06.552.380.315.430|C22.467.435 Fever, Rift Valley Animal disease|Digestive system disease|Viral disease Right-sided bronchial isomerism MESH:C000721324 MESH:D059446 C14.240.400.592/C000721324|C14.280.400.592/C000721324|C15.604.744.146/C000721324|C16.131.077.401/C000721324|C16.131.240.400.592/C000721324 C14.240.400.592|C14.280.400.592|C15.604.744.146|C16.131.077.401|C16.131.240.400.592 Bilateral right bronchi|Right bronchial isomerism|Right sided bronchial isomerism Cardiovascular disease|Congenital abnormality|Lymphatic disease Right ventricle hypoplasia MESH:C535682 MESH:D006330 C14.240.400/C535682|C14.280.400/C535682|C16.131.240.400/C535682 C14.240.400|C14.280.400|C16.131.240.400 Hypoplasia of the right ventricle|Isolated hypoplasia of the right ventricle|Isolated right ventricular hypoplasia|Right ventricular hypoplasia|Right Ventricular Hypoplasia, Isolated Cardiovascular disease|Congenital abnormality Rigid spine syndrome MESH:C535683 DO:DOID:0110633|OMIM:602771 MESH:D009136|MESH:D012600 C05.116.900.800.875/C535683|C05.651.534.500/C535683|C10.668.491.175.500/C535683|C16.320.577/C535683 C05.116.900.800.875|C05.651.534.500|C10.668.491.175.500|C16.320.577 CMYP3|CONGENITAL MYOPATHY 3 WITH RIGID SPINE|Desmin-related myopathies with Mallory bodies|Desmin-Related Myopathy With Mallory Bodies|DESMIN-RELATED MYOPATHY WITH MALLORY BODIES, FORMERLY|MDRS1|Minicore myopathy, severe classic form|MINICORE MYOPATHY, SEVERE CLASSIC FORM, FORMERLY|Multicore myopathy, severe classic form|MULTICORE MYOPATHY, SEVERE CLASSIC FORM, FORMERLY|Multiminicore disease, severe classic form|MULTIMINICORE DISEASE, SEVERE CLASSIC FORM, FORMERLY|Muscular Dystrophy, Congenital, Eichsfeld Type|MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE, FORMERLY|Muscular dystrophy, congenital, merosin positive with early spine rigidity|Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity|Myopathy, Sepn1-Related|Rigid spine muscular dystrophy-1|Rigid Spine Muscular Dystrophy 1|RIGID SPINE SYNDROME|RSMD1|RSS Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Rigor Mortis MESH:D012298 Muscular rigidity which develops in the cadaver usually from 4 to 10 hours after death and lasts 3 or 4 days. MESH:D011180 C23.550.260.224.617.839 C23.550.260.224.617 Mortis, Rigor Pathology (process) Rinderpest MESH:D012301 A viral disease of cloven-hoofed animals caused by MORBILLIVIRUS. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010. MESH:D000820|MESH:D018185 C01.925.782.580.600.500.700|C22.780 C01.925.782.580.600.500|C22 Cattle Plague|Plague, Cattle Animal disease|Viral disease Ring Chromosome 14 Syndrome MESH:C535487 MESH:D012303 C23.550.210.760/C535487 C23.550.210.760 Chromosome 14 ring|Ring 14|Ring 14 Syndrome|Ring Chromosome 14 Pathology (process) Ring Chromosome 20 Syndrome MESH:C580424 MESH:D012303 C23.550.210.760/C580424 C23.550.210.760 R(20) Syndrome|Ring 20 Syndrome|Ring Chromosome 20|Ring Chromosome 20 Epilepsy Syndrome Pathology (process) Ring chromosome 4 syndrome MESH:C537636 MESH:D012303|MESH:D025063 C16.131.260/C537636|C16.320.180/C537636|C23.550.210.760/C537636 C16.131.260|C16.320.180|C23.550.210.760 Ring 4, Chromosome Congenital abnormality|Genetic disease (inborn)|Pathology (process) Ring Chromosomes MESH:D012303 Aberrant chromosomes with no ends, i.e., circular. MESH:D002869 C23.550.210.760 C23.550.210 Chromosome, Ring|Chromosomes, Ring|Ring Chromosome Pathology (process) Ring dermoid of cornea MESH:C535684 DO:DOID:0111548|OMIM:180550 MESH:D003229|MESH:D003316|MESH:D003884 C04.182.201/C535684|C04.557.465.910.250/C535684|C11.187/C535684|C11.204/C535684 C04.182.201|C04.557.465.910.250|C11.187|C11.204 Bilateral, annular limbal dermoids with corneal and conjunctival extension|RDC|Ring dermoid syndrome Cancer|Eye disease Rippling muscle disease, 1 MESH:C535686 DO:DOID:0070308|OMIM:600332|OMIM:606072 MESH:D009135 C05.651/C535686|C10.668.491/C535686 C05.651|C10.668.491 LGMD1C, FORMERLY|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, FORMERLY|Rippling muscle disease|Rippling Muscle Disease 1|Rippling Muscle Disease 2|RMD|RMD1|RMD2 Musculoskeletal disease|Nervous system disease RIV immunoglobulin variant protein, human MESH:C484001 MESH:D006362 C15.378.147.780.490/C484001|C15.604.515.435/C484001|C20.683.780.490/C484001 C15.378.147.780.490|C15.604.515.435|C20.683.780.490 protein RIV, human Blood disease|Immune system disease|Lymphatic disease RNA Virus Infections MESH:D012327 Diseases caused by RNA VIRUSES. MESH:D014777 C01.925.782 C01.925 Infection, RNA Virus|Infections, RNA Virus|RNA Virus Infection|Virus Infection, RNA|Virus Infections, RNA Viral disease Roberts Syndrome MESH:C535687 DO:DOID:5325|OMIM:268300 MESH:D004480|MESH:D006972|MESH:D019465 C05.116.099.370.231.480/C535687|C05.660.207.231.480/C535687|C05.660.207/C535687|C05.660.585.350/C535687|C16.131.621.207.231.480/C535687|C16.131.621.207/C535687|C16.131.621.585.350/C535687 C05.116.099.370.231.480|C05.660.207|C05.660.207.231.480|C05.660.585.350|C16.131.621.207|C16.131.621.207.231.480|C16.131.621.585.350 Appelt-Gerken-Lenz Syndrome|Hypomelia Hypotrichosis Facial Hemangioma Syndrome|Long bone deficiencies associated with cleft lip-palate|Pseudothalidomide Syndrome|RBS|Roberts-Sc Phocomelia Syndrome|ROBERTS SYNDROME|Sc Phocomelia Syndrome|Sc Pseudothalidomide Syndrome|Sc Syndrome|Tetraphocomelia-Cleft Palate Syndrome Congenital abnormality|Musculoskeletal disease Robinow Sorauf syndrome MESH:C537183 OMIM:180750 MESH:D000168 C05.116.099.370.894.232.015/C537183|C05.116.099.370.894.819.100/C537183|C05.660.207.240.100/C537183|C05.660.585.800.100/C537183|C05.660.906.364.100/C537183|C05.660.906.819.100/C537183|C16.131.621.207.240.100/C537183|C16.131.621.585.800.100/C537183|C16.131.621.906.364.100/C537183|C16.131.621.906.819.100/C537183 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.660.207.240.100|C05.660.585.800.100|C05.660.906.364.100|C05.660.906.819.100|C16.131.621.207.240.100|C16.131.621.585.800.100|C16.131.621.906.364.100|C16.131.621.906.819.100 Acrocephalosyndactyly, Robinow-Sorauf type|Craniosynostosis-bifid hallux syndrome|Robinow-Sorauf Syndrome Congenital abnormality|Musculoskeletal disease Robinow Syndrome MESH:C562492 DO:DOID:0060254|OMIM:180700|OMIM:616331|OMIM:616894 MESH:D004392|MESH:D014564|MESH:D017880|MESH:D019465 C05.116.099.343/C562492|C05.660.207/C562492|C05.660.585/C562492|C12.050.351.875/C562492|C12.200.706/C562492|C12.800/C562492|C16.131.621.207/C562492|C16.131.621.585/C562492|C16.131.939/C562492|C16.320.240/C562492|C19.297/C562492 C05.116.099.343|C05.660.207|C05.660.585|C12.050.351.875|C12.200.706|C12.800|C16.131.621.207|C16.131.621.585|C16.131.939|C16.320.240|C19.297 Acral Dysostosis with Facial and Genital Abnormalities|DRS1|DRS2|DRS3|Fetal Face Syndrome|Mesomelic Dwarfism-Small Genitalia Syndrome|Robinow Dwarfism|Robinow-Silverman-Smith Syndrome|Robinow Syndrome, Autosomal Dominant|ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1|ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2|ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Robinow syndrome, autosomal recessive MESH:C535863 OMIM:268310 MESH:D017880|MESH:D019767 C05.660.207.540/C535863|C05.660.585/C535863|C07.650.500/C535863|C16.131.621.207.540/C535863|C16.131.621.585/C535863|C16.131.850.500/C535863 C05.660.207.540|C05.660.585|C07.650.500|C16.131.621.207.540|C16.131.621.585|C16.131.850.500 COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA, FORMERLY|COVESDEM SYNDROME, FORMERLY ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS, INCLUDED|ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1|ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY, INCLUDED|RRS1 Congenital abnormality|Mouth disease|Musculoskeletal disease Robin sequence and oligodactyly MESH:C535688 MESH:D010855 C05.500.460.606/C535688|C05.660.207.540.460.606/C535688|C07.320.440.606/C535688|C07.650.500.460.606/C535688|C16.131.621.207.540.460.606/C535688|C16.131.850.500.460.606/C535688 C05.500.460.606|C05.660.207.540.460.606|C07.320.440.606|C07.650.500.460.606|C16.131.621.207.540.460.606|C16.131.850.500.460.606 Pierre Robin syndrome and oligodactyly Congenital abnormality|Mouth disease|Musculoskeletal disease Robin Sequence with Distinctive Facial Appearance and Brachydactyly MESH:C563880 MESH:D008607|MESH:D010855|MESH:D019066|MESH:D059327 C05.500.460.606/C563880|C05.660.207.540.460.606/C563880|C05.660.585.262/C563880|C07.320.440.606/C563880|C07.650.500.460.606/C563880|C10.597.606.360/C563880|C16.131.621.207.540.460.606/C563880|C16.131.621.585.262/C563880|C16.131.850.500.460.606/C563880|C23.550.291.812/C563880|C23.888.592.604.646/C563880|F03.625.539/C563880 C05.500.460.606|C05.660.207.540.460.606|C05.660.585.262|C07.320.440.606|C07.650.500.460.606|C10.597.606.360|C16.131.621.207.540.460.606|C16.131.621.585.262|C16.131.850.500.460.606|C23.550.291.812|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Robinson Miller Bensimon syndrome MESH:C535864 MESH:D004476|MESH:D006319 C09.218.458.341.887/C535864|C10.597.751.418.341.887/C535864|C16.131.077.350/C535864|C16.131.831.350/C535864|C16.320.850.250/C535864|C17.800.804.350/C535864|C17.800.827.250/C535864|C23.888.592.763.393.341.887/C535864 C09.218.458.341.887|C10.597.751.418.341.887|C16.131.077.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.888.592.763.393.341.887 Deafness and onychodystrophy, dominant form Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease Rocky Mountain Spotted Fever MESH:D012373 DO:DOID:0050052 An acute febrile illness caused by RICKETTSIA RICKETTSII. It is transmitted to humans by bites of infected ticks and occurs only in North and South America. Characteristics include a sudden onset with headache and chills and fever lasting about two to three weeks. A cutaneous rash commonly appears on the extremities and trunk about the fourth day of illness. MESH:D000073605 C01.150.252.400.789.725.400.500|C01.920.930.887.500 C01.150.252.400.789.725.400|C01.920.930.887 Brazilian Spotted Fever|Fever, Brazilian Spotted|Infection, Rickettsia rickettsii|Rickettsia rickettsii Infection|Rickettsia rickettsii Infections|Sao Paulo Typhus|Spotted Fever, Brazilian|Typhus, Sao Paulo Bacterial infection or mycosis Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction MESH:C564829 MESH:D005198|MESH:D006319|MESH:D012174 C09.218.458.341.887/C564829|C10.597.751.418.341.887/C564829|C11.270.684/C564829|C11.768.585.658.500/C564829|C12.050.351.968.419.815.450/C564829|C12.200.777.419.815.450/C564829|C12.950.419.815.450/C564829|C16.320.290.684/C564829|C16.320.831.450/C564829|C23.888.592.763.393.341.887/C564829 C09.218.458.341.887|C10.597.751.418.341.887|C11.270.684|C11.768.585.658.500|C12.050.351.968.419.815.450|C12.200.777.419.815.450|C12.950.419.815.450|C16.320.290.684|C16.320.831.450|C23.888.592.763.393.341.887 Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Rodent Diseases MESH:D012376 Diseases of rodents of the order RODENTIA. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs). MESH:D000820 C22.795 C22 Disease, Rodent|Diseases, Rodent|Rodent Disease Animal disease Rodrigues blindness MESH:C535865 MESH:D001766|MESH:D006130|MESH:D006201|MESH:D014071 C07.650.800/C535865|C07.793.700/C535865|C10.597.751.941.162/C535865|C11.966.075/C535865|C16.131.850.800/C535865|C17.800.329/C535865|C23.550.393/C535865|C23.888.592.763.941.162/C535865 C07.650.800|C07.793.700|C10.597.751.941.162|C11.966.075|C16.131.850.800|C17.800.329|C23.550.393|C23.888.592.763.941.162 Congenital abnormality|Eye disease|Mouth disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Roifman-Chitayat Syndrome MESH:C567641 OMIM:613328 MESH:D000081207|MESH:D001848|MESH:D002658|MESH:D009901|MESH:D019066 C05.116.099/C567641|C10.292.700/C567641|C11.640/C567641|C16.320.798/C567641|C20.673.795/C567641|C23.550.291.812/C567641|F03.625.421/C567641 C05.116.099|C10.292.700|C11.640|C16.320.798|C20.673.795|C23.550.291.812|F03.625.421 Combined Immunodeficiency, Facial Dysmorphism, Optic Nerve Atrophy, Skeletal Anomalies, And Developmental Delay|ROCHIS Eye disease|Genetic disease (inborn)|Immune system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process) Roifman syndrome MESH:C535866 OMIM:616651 MESH:D000081207|MESH:D009202|MESH:D010009|MESH:D012164|MESH:D038901 C05.116.099.708/C535866|C10.597.606.360.455/C535866|C11.768/C535866|C14.280.238/C535866|C16.320.322.500/C535866|C16.320.400.525/C535866|C16.320.728/C535866|C16.320.798/C535866|C20.673.795/C535866 C05.116.099.708|C10.597.606.360.455|C11.768|C14.280.238|C16.320.322.500|C16.320.400.525|C16.320.728|C16.320.798|C20.673.795 RFMN|Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency|SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY Cardiovascular disease|Eye disease|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease|Nervous system disease Rokitansky-Aschoff sinuses of the gallbladder MESH:C535869 MESH:D005705 C06.130.564/C535869 C06.130.564 Intramural diverticulosis of the gallbladder|Rokitansky-Aschoff sinuses Digestive system disease Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant MESH:C563392 MESH:D001072|MESH:D008607|MESH:D019305 C10.228.140.490.360.280/C563392|C10.228.140.490.493.250/C563392|C10.597.606.360/C563392|C10.597.606.881.350/C563392|C23.888.592.604.646/C563392|C23.888.592.604.882.350/C563392|F03.625.539/C563392 C10.228.140.490.360.280|C10.228.140.490.493.250|C10.597.606.360|C10.597.606.881.350|C23.888.592.604.646|C23.888.592.604.882.350|F03.625.539 ADRESD|RESDAD Mental disorder|Nervous system disease|Signs and symptoms Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked MESH:C564467 OMIM:300643 MESH:D001072|MESH:D008607|MESH:D013064|MESH:D019305|MESH:D040181 C10.228.140.490.360.280/C564467|C10.228.140.490.493.250/C564467|C10.597.606.150.500.800/C564467|C10.597.606.360/C564467|C10.597.606.881.350/C564467|C16.320.322/C564467|C23.888.592.604.150.500.800/C564467|C23.888.592.604.646/C564467|C23.888.592.604.882.350/C564467|F03.625.539/C564467 C10.228.140.490.360.280|C10.228.140.490.493.250|C10.597.606.150.500.800|C10.597.606.360|C10.597.606.881.350|C16.320.322|C23.888.592.604.150.500.800|C23.888.592.604.646|C23.888.592.604.882.350|F03.625.539 RESDX|ROLANDIC EPILEPSY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SPEECH DYSPRAXIA, X-LINKED|ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Romano-Ward Syndrome MESH:D029597 OMIM:192500 A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL. MESH:D008133 C14.280.067.565.720|C14.280.123.625.720|C16.131.240.400.715.720|C23.550.073.547.720 C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C23.550.073.547 Long QT Syndrome 1|LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED|Long QT Syndrome Type 1|LQT1|Romano Ward Syndrome|ROMANO-WARD SYNDROME|RWS|Syndrome, Romano-Ward|Syndrome, Ward-Romano|Ventricular Fibrillation with Prolonged QT Interval|VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL LONG QT SYNDROME 1/2, DIGENIC, INCLUDED;LQT1/2, DIGENIC, INCLUDED|Ward Romano Syndrome|Ward-Romano Syndrome|WRS Cardiovascular disease|Congenital abnormality|Pathology (process) Rombo syndrome MESH:C535870 MESH:D002280|MESH:D003490|MESH:D005148|MESH:D007039|MESH:D012878 C04.557.470.200.165/C535870|C04.557.470.565.165/C535870|C04.588.805/C535870|C17.800.271/C535870|C17.800.329.937/C535870|C17.800.882/C535870|C23.888.248/C535870 C04.557.470.200.165|C04.557.470.565.165|C04.588.805|C17.800.271|C17.800.329.937|C17.800.882|C23.888.248 Cancer|Signs and symptoms|Skin disease Rommen Mueller Sybert syndrome MESH:C535871 MESH:D004392|MESH:D006130|MESH:D006330|MESH:D019465 C05.116.099.343/C535871|C05.660.207/C535871|C14.240.400/C535871|C14.280.400/C535871|C16.131.240.400/C535871|C16.131.621.207/C535871|C16.320.240/C535871|C19.297/C535871|C23.550.393/C535871 C05.116.099.343|C05.660.207|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207|C16.320.240|C19.297|C23.550.393 Developmental delay, growth deficiency, congenital heart defect, and multiple craniofacial anomalies|Short stature, heart defect and craniofacial anomalies Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Root Caries MESH:D017213 DO:DOID:14089 Dental caries involving the tooth root, cementum, or cervical area of the tooth. MESH:D003731 C07.793.720.210.650 C07.793.720.210 Caries, Cervical|Caries, Root|Cary, Cervical|Cervical Caries|Cervical Cary Mouth disease Root Resorption MESH:D012391 DO:DOID:14550 Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed) MESH:D014091 C07.793.901.653 C07.793.901 Resorption, Root|Resorptions, Root|Root Resorptions Mouth disease Rosacea MESH:D012393 DO:DOID:8881 A cutaneous disorder primarily of convexities of the central part of the FACE, such as FOREHEAD; CHEEK; NOSE; and CHIN. It is characterized by FLUSHING; ERYTHEMA; EDEMA; RHINOPHYMA; papules; and ocular symptoms. It may occur at any age but typically after age 30. There are various subtypes of rosacea: erythematotelangiectatic, papulopustular, phymatous, and ocular (National Rosacea Society's Expert Committee on the Classification and Staging of Rosacea, J Am Acad Dermatol 2002; 46:584-7). MESH:D012871 C17.800.716 C17.800 Acne Rosacea|Erythematotelangiectatic Rosacea|Granulomatous Rosacea|Ocular Rosacea|Papulopustular Rosacea|Phymatous Rosacea|Rosacea, Erythematotelangiectatic|Rosacea, Granulomatous|Rosacea, Ocular|Rosacea, Papulopustular|Rosacea, Phymatous Skin disease Rosenthal-Kloepfer syndrome MESH:C535654 MESH:D000172|MESH:D003318|MESH:D012536 C05.116.132.082/C535654|C10.228.140.617.738.250.100/C535654|C11.204.299/C535654|C17.800.738/C535654|C19.700.355.179/C535654 C05.116.132.082|C10.228.140.617.738.250.100|C11.204.299|C17.800.738|C19.700.355.179 Acromegaloid changes, cutis verticis gyrata and corneal leukoma|Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma Endocrine system disease|Eye disease|Musculoskeletal disease|Nervous system disease|Skin disease Roseolovirus Infections MESH:D019349 Infection with ROSEOLOVIRUS, the most common in humans being EXANTHEMA SUBITUM, a benign disease of infants and young children. MESH:D006566 C01.925.256.466.850 C01.925.256.466 Infection, Roseolovirus|Infections, Roseolovirus|Roseolovirus Infection Viral disease Rosselli-Gulienetti Syndrome MESH:C563117 OMIM:225000 MESH:D002971|MESH:D002972|MESH:D004476|MESH:D013576|MESH:D014564 C05.116.099.370.894.819/C563117|C05.500.460.185/C563117|C05.660.207.540.460.185/C563117|C05.660.585.800/C563117|C05.660.906.819/C563117|C07.320.440.185/C563117|C07.465.409.225/C563117|C07.465.525.164/C563117|C07.465.525.185/C563117|C07.650.500.460.185/C563117|C07.650.525.164/C563117|C07.650.525.185/C563117|C12.050.351.875/C563117|C12.200.706/C563117|C12.800/C563117|C16.131.077.350/C563117|C16.131.621.207.540.460.185/C563117|C16.131.621.585.800/C563117|C16.131.621.906.819/C563117|C16.131.831.350/C563117|C16.131.850.500.460.185/C563117|C16.131.850.525.164/C563117|C16.131.850.525.185/C563117|C16.131.939/C563117|C16.320.850.250/C563117|C17.800.804.350/C563117|C17.800.827.250/C563117 C05.116.099.370.894.819|C05.500.460.185|C05.660.207.540.460.185|C05.660.585.800|C05.660.906.819|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C12.050.351.875|C12.200.706|C12.800|C16.131.077.350|C16.131.621.207.540.460.185|C16.131.621.585.800|C16.131.621.906.819|C16.131.831.350|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.131.939|C16.320.850.250|C17.800.804.350|C17.800.827.250 Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) Rotator Cuff Injuries MESH:D000070636 Injuries to the ROTATOR CUFF of the shoulder joint. MESH:D000070599|MESH:D012421|MESH:D013708 C26.761.340|C26.803.063|C26.874.400 C26.761|C26.803|C26.874 Cuff Injury, Rotator|Glenoid Labral Tear|Glenoid Labral Tears|Injury, Rotator Cuff|Labral Tear, Glenoid|Labral Tears, Glenoid|Rotator Cuff Injury|Rotator Cuff Tear|Rotator Cuff Tears|Rotator Cuff Tendinitides|Rotator Cuff Tendinitis|Rotator Cuff Tendinoses|Rotator Cuff Tendinosis|Tear, Glenoid Labral|Tear, Rotator Cuff|Tears, Rotator Cuff|Tendinitis, Rotator Cuff|Tendinoses, Rotator Cuff|Tendinosis, Rotator Cuff Wounds and injuries Rotator Cuff Tear Arthropathy MESH:D000070656 Rapidly destructive shoulder joint and bone disease found mainly in elderly, and predominantly in women. It is characterized by SHOULDER PAIN; JOINT INSTABILITY; and the presence of crystalline CALCIUM PHOSPHATES in the SYNOVIAL FLUID. It is associated with ROTATOR CUFF INJURIES. MESH:D000070657|MESH:D002805 C05.550.114.264.500|C05.550.354.250 C05.550.114.264|C05.550.354 Arthropathy, Cuff Tear|Cuff Tear Arthropathy|Milwaukee Shoulder|Milwaukee Shoulder Syndrome|Shoulder, Milwaukee Musculoskeletal disease Rotavirus Infections MESH:D012400 Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice. MESH:D012088 C01.925.782.791.814 C01.925.782.791 Infection, Rotavirus|Infections, Rotavirus|Rotavirus Infection Viral disease Rothmund-Thomson Syndrome MESH:D011038 DO:DOID:2732|OMIM:268400 An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM. MESH:D007232|MESH:D012868|MESH:D012873|MESH:D049914 C16.131.831.775|C16.320.850.765|C16.614.760|C17.800.804.775|C17.800.827.775|C18.452.284.760 C16.131.831|C16.320.850|C16.614|C17.800.804|C17.800.827|C18.452.284 Congenitale, Poikiloderma|Congenitales, Poikiloderma|Congenital Poikiloderma|Poikiloderma Atrophicans and Cataract|Poikiloderma Congenitale|Poikiloderma Congenitale of Rothmund-Thomson|Poikiloderma Congenitales|Poikiloderma of Rothmund Thomson|Poikiloderma of Rothmund-Thomson|Rothmund-Thomson Poikiloderma|Rothmund-Thomson Poikilodermas|Rothmund Thomson Syndrome|ROTHMUND-THOMSON SYNDROME|ROTHMUND-THOMSON SYNDROME, TYPE 2|RTS2|Syndrome, Rothmund-Thomson Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease Rowley-Rosenberg syndrome MESH:C535874 MESH:D000608|MESH:D006130|MESH:D006976 C08.381.423/C535874|C12.050.351.968.419.815.885/C535874|C12.200.777.419.815.885/C535874|C12.950.419.815.885/C535874|C14.907.489.556/C535874|C16.320.831.885/C535874|C23.550.393/C535874 C08.381.423|C12.050.351.968.419.815.885|C12.200.777.419.815.885|C12.950.419.815.885|C14.907.489.556|C16.320.831.885|C23.550.393 Growth retardation, pulmonary hypertension, and aminoaciduria|Growth Retardation, Pulmonary Hypertension, and Amino Aciduria Cardiovascular disease|Genetic disease (inborn)|Pathology (process)|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Roy Maroteaux Kremp syndrome MESH:C535875 MESH:D009422|MESH:D010022|MESH:D012871|MESH:D015419 C05.116.099.708.702.678/C535875|C10.500.300.820/C535875|C10.574.500.495.820/C535875|C10.668.829.800.300.820/C535875|C10/C535875|C16.131.666.300.820/C535875|C16.320.400.375.820/C535875|C17.800/C535875 C05.116.099.708.702.678|C10|C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C17.800 Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Skin disease Rozin Hertz Goodman syndrome MESH:C535876 MESH:D000015|MESH:D003286|MESH:D005124|MESH:D006228|MESH:D019465 C05.390.408/C535876|C05.550.323/C535876|C05.651.197/C535876|C05.660.207/C535876|C05.660.585.988.425/C535876|C11.250/C535876|C16.131.077/C535876|C16.131.384/C535876|C16.131.621.207/C535876|C16.131.621.585.988.500/C535876 C05.390.408|C05.550.323|C05.651.197|C05.660.207|C05.660.585.988.425|C11.250|C16.131.077|C16.131.384|C16.131.621.207|C16.131.621.585.988.500 Camptodactyly, joint contractures, facial skeletal defects|Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye Congenital abnormality|Eye disease|Musculoskeletal disease Rubella MESH:D012409 DO:DOID:8781 An acute infectious disease caused by the RUBELLA VIRUS. The virus enters the respiratory tract via airborne droplet and spreads to the LYMPHATIC SYSTEM. MESH:D018355 C01.925.782.930.700.700 C01.925.782.930.700 German Measles|Measles, German|Measles, Three Day|Measle, Three Day|Rubellas|Three Day Measle|Three Day Measles Viral disease Rubella Syndrome, Congenital MESH:D012410 Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalized growth retardation. (From Dorland, 27th ed) MESH:D000015|MESH:D012409 C01.925.782.930.700.700.700|C16.131.077.790 C01.925.782.930.700.700|C16.131.077 Congenital Rubella Syndrome|Congenital Rubella Syndromes|Rubella Syndromes, Congenital|Syndrome, Congenital Rubella|Syndromes, Congenital Rubella Congenital abnormality|Viral disease Rubinstein Taybi like syndrome MESH:C535877 MESH:D011625|MESH:D012415 C05.116.099.370.797/C535877|C05.660.207.850/C535877|C10.597.606.360.700/C535877|C11.187.781/C535877|C16.131.077.804/C535877|C16.131.260.790/C535877|C16.131.621.207.850/C535877|C16.320.180.790/C535877 C05.116.099.370.797|C05.660.207.850|C10.597.606.360.700|C11.187.781|C16.131.077.804|C16.131.260.790|C16.131.621.207.850|C16.320.180.790 Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Rubinstein-Taybi Syndrome MESH:D012415 DO:DOID:1933|OMIM:180849|OMIM:613684 A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). MESH:D000015|MESH:D004413|MESH:D008607|MESH:D019465|MESH:D025063 C05.116.099.370.797|C05.660.207.850|C10.597.606.360.700|C16.131.077.804|C16.131.260.790|C16.131.621.207.850|C16.320.180.790 C05.116.099.370|C05.660.207|C10.597.606.360|C16.131.077|C16.131.260|C16.131.621.207|C16.320.180 Broad Thumb Hallux Syndrome|Broad Thumb-Hallux Syndrome|Broad Thumb-Hallux Syndromes|Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation|RSTS|RSTS1|RSTS2|Rubinstein Syndrome|Rubinstein Taybi Syndrome|RUBINSTEIN-TAYBI SYNDROME 1|RUBINSTEIN-TAYBI SYNDROME 2|Syndrome, Broad Thumb-Hallux|Syndrome, Rubinstein|Syndrome, Rubinstein-Taybi|Syndromes, Broad Thumb-Hallux Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Rubivirus Infections MESH:D018355 Virus diseases caused by the RUBIVIRUS genus, of the family TOGAVIRIDAE. MESH:D014036 C01.925.782.930.700 C01.925.782.930 Infection, Rubivirus|Infections, Rubivirus|Rubivirus Infection Viral disease Rubulavirus Infections MESH:D019351 Infections with viruses of the genus RUBULAVIRUS, family PARAMYXOVIRIDAE. MESH:D018184 C01.925.782.580.600.680 C01.925.782.580.600 Infection, Rubulavirus|Infections, Rubulavirus|Rubulavirus Infection Viral disease Rudd Klimek syndrome MESH:C535879 MESH:D004480 C05.660.585.350/C535879|C16.131.621.585.350/C535879 C05.660.585.350|C16.131.621.585.350 Caudal dysgenesis familial type|Familial caudal dysgenesis Congenital abnormality|Musculoskeletal disease Rudiger Syndrome MESH:C562912 MESH:D000015|MESH:D019066 C16.131.077/C562912|C23.550.291.812/C562912 C16.131.077|C23.550.291.812 Congenital abnormality|Pathology (process) Rud Syndrome MESH:C535878 MESH:D004827|MESH:D007006|MESH:D007057|MESH:D008607 C10.228.140.490/C535878|C10.597.606.360/C535878|C16.131.831.512/C535878|C16.614.492/C535878|C17.800.428.333/C535878|C17.800.804.512/C535878|C19.391.482/C535878|C23.888.592.604.646/C535878|F03.625.539/C535878 C10.228.140.490|C10.597.606.360|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512|C19.391.482|C23.888.592.604.646|F03.625.539 Dwarfism ichthyosiform erythroderma mental deficiency syndrome|Ichthyosis hypogonadism mental retardation epilepsy syndrome|Ichthyosis male hypogonadism syndrome|Ichthyosis mental retardation-epilepsy hypogonadism syndrome|Ichthyosis oligophrenia epilepsy syndrome|Neuroichthyosis hypogonadism syndrome|Rud's syndrome Congenital abnormality|Endocrine system disease|Infant-newborn disease|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Rufous oculocutaneous albinism MESH:C537189 OMIM:203290 MESH:D016115 C11.270.040.545/C537189|C16.320.290.040.100/C537189|C16.320.565.100.102.100/C537189|C16.320.850.080.100/C537189|C17.800.621.440.102.100/C537189|C17.800.827.080.100/C537189|C18.452.648.100.102.100/C537189 C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100 Albinism 3|Albinism III|Albinism, oculocutaneous, type 3|Albinism, Oculocutaneous, Type III|OCA3|Oculocutaneous albinism type 3|Oculocutaneous Albinism, Type III|ROCA|Rufous OCA|RUFOUS OCULOCUTANEOUS ALBINISM|Xanthism Eye disease|Genetic disease (inborn)|Metabolic disease|Skin disease RUIJS-AALFS SYNDROME OMIM:616200 DO:DOID:0111264 MESH:D006528|MESH:D011371|MESH:D042822 C04.557.470.200.025.255/616200|C04.588.274.623.160/616200|C06.301.623.160/616200|C06.552.697.160/616200|C16.320.488.875/616200|C16.320.565.753/616200|C18.452.648.753/616200|C23.550.362/616200 C04.557.470.200.025.255|C04.588.274.623.160|C06.301.623.160|C06.552.697.160|C16.320.488.875|C16.320.565.753|C18.452.648.753|C23.550.362 RJALS Cancer|Digestive system disease|Genetic disease (inborn)|Metabolic disease|Pathology (process) Rumination Syndrome MESH:D000079562 DO:DOID:11507 A gastrointestinal disorder characterized by repetitive and effortless regurgitation of ingested food from the stomach to the oral cavity in the early POSTPRANDIAL PERIOD. It is associated with functional gastrointestinal pathology (e.g., increased intra-gastric pressure) and psychiatric disorders (e.g., anxiety, depression). It is not limited to infants and distinct from GERD and VOMITING. MESH:D001068|MESH:D005767 C06.405.609|F03.400.968 C06.405|F03.400 Merycism|Rumination Disorder|Rumination Disorders|Rumination Syndromes Digestive system disease|Mental disorder Rupture MESH:D012421 Forcible or traumatic tear or break of an organ or other soft part of the body. MESH:D014947 C26.761 C26 Ruptures Wounds and injuries Rupture, Spontaneous MESH:D012422 Tear or break of an organ, vessel or other soft part of the body, occurring in the absence of external force. MESH:D020763 C23.300.909 C23.300 Ruptures, Spontaneous|Spontaneous Rupture|Spontaneous Ruptures Pathology (anatomical condition) Russell-Silver Syndrome, X-Linked MESH:C562446 DO:DOID:14744 MESH:D010859|MESH:D040181|MESH:D056730 C05.660.207.925/C562446|C16.131.077.855/C562446|C16.131.260.870/C562446|C16.320.180.870/C562446|C16.320.240.937/C562446|C16.320.322/C562446|C17.800.621/C562446|C23.550.755/C562446 C05.660.207.925|C16.131.077.855|C16.131.260.870|C16.320.180.870|C16.320.240.937|C16.320.322|C17.800.621|C23.550.755 Russell-Silver-Like Syndrome with Skin Pigmentation Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Skin disease Ruvalcaba Churesigaew Myhre syndrome MESH:C537190 MESH:D011371 C16.320.488.875/C537190|C16.320.565.753/C537190|C18.452.648.753/C537190 C16.320.488.875|C16.320.565.753|C18.452.648.753 Genetic disease (inborn)|Metabolic disease Ruvalcaba Syndrome MESH:C579395 MESH:D000015|MESH:D004392|MESH:D010007|MESH:D019066 C05.116.099.343/C579395|C05.116.791/C579395|C05.182.520/C579395|C16.131.077/C579395|C16.320.240/C579395|C17.300.182.520/C579395|C19.297/C579395|C23.550.291.812/C579395 C05.116.099.343|C05.116.791|C05.182.520|C16.131.077|C16.320.240|C17.300.182.520|C19.297|C23.550.291.812 Congenital abnormality|Connective tissue disease|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Ruzicka Goerz Anton syndrome MESH:C537192 MESH:D002573|MESH:D006313|MESH:D007057|MESH:D008607|MESH:D013964|MESH:D017880 C04.588.322.894/C537192|C04.588.443.915/C537192|C05.660.585/C537192|C09.218.458.341.887.432/C537192|C09.218.807.186.432/C537192|C10.228.140.068.432/C537192|C10.597.606.360/C537192|C10.597.751.418.341.887.432/C537192|C10.668.829.550.850.200/C537192|C14.907.863.200/C537192|C16.131.621.174/C537192|C16.131.621.585/C537192|C16.131.831.512/C537192|C16.614.492/C537192|C17.800.428.333/C537192|C17.800.804.512/C537192|C19.344.894/C537192|C19.874.788/C537192|C23.888.592.604.646/C537192|C23.888.592.763.393.341.887.432/C537192|F03.625.539/C537192 C04.588.322.894|C04.588.443.915|C05.660.585|C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.606.360|C10.597.751.418.341.887.432|C10.668.829.550.850.200|C14.907.863.200|C16.131.621.174|C16.131.621.585|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512|C19.344.894|C19.874.788|C23.888.592.604.646|C23.888.592.763.393.341.887.432|F03.625.539 Ichthyosis deafness mental retardation skeletal anomalies Cancer|Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Infant-newborn disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Saal Bulas syndrome MESH:C537193 MESH:D000015|MESH:D006228|MESH:D006330|MESH:D061085|MESH:D065630 C05.390.408/C537193|C05.660.585.988.425/C537193|C10.500.034/C537193|C14.240.400/C537193|C14.280.400/C537193|C16.131.077/C537193|C16.131.240.400/C537193|C16.131.433/C537193|C16.131.621.585.988.500/C537193|C16.131.666.034/C537193|C23.300.008/C537193|C23.300.707.960.500.116/C537193 C05.390.408|C05.660.585.988.425|C10.500.034|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.433|C16.131.621.585.988.500|C16.131.666.034|C23.300.008|C23.300.707.960.500.116 Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Sabinas brittle hair syndrome MESH:C536320 DO:DOID:0111874 MESH:D054463 C16.131.077.899/C536320|C16.131.831.874/C536320|C16.320.850.895/C536320|C17.800.804.874/C536320|C17.800.827.895/C536320 C16.131.077.899|C16.131.831.874|C16.320.850.895|C17.800.804.874|C17.800.827.895 Brittle hair and mental deficit|Sabinas syndrome Congenital abnormality|Genetic disease (inborn)|Skin disease Saccharopinuria MESH:C537218 OMIM:268700 MESH:D020167 C10.228.140.163.100.380/C537218|C16.320.565.100.544/C537218|C16.320.565.189.380/C537218|C18.452.132.100.380/C537218|C18.452.648.100.544/C537218|C18.452.648.189.380/C537218 C10.228.140.163.100.380|C16.320.565.100.544|C16.320.565.189.380|C18.452.132.100.380|C18.452.648.100.544|C18.452.648.189.380 Alpha-aminoadipic semialdehyde synthase deficiency|HYPERLYSINEMIA, TYPE II|Saccharopine dehydrogenase deficiency Genetic disease (inborn)|Metabolic disease|Nervous system disease Sackey Sakati Aur syndrome MESH:C537219 MESH:D000015|MESH:D010198 C15.378.700/C537219|C16.131.077/C537219 C15.378.700|C16.131.077 Aur syndrome|Multiple dysmorphic features and pancytopenia|Pancytopenia multiple congenital anomalies Blood disease|Congenital abnormality Sacral Agenesis Syndrome MESH:C566762 MESH:D008588|MESH:D013724 C04.557.465.910/C566762|C10.500.680.598/C566762|C16.131.666.680.598/C566762|C23.300.707.968/C566762 C04.557.465.910|C10.500.680.598|C16.131.666.680.598|C23.300.707.968 Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And-Or Teratoma, And Anorectal Malformation Cancer|Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Sacral defect and anterior sacral meningocele MESH:C537221 OMIM:600145 MESH:D000015|MESH:D008588 C10.500.680.598/C537221|C16.131.077/C537221|C16.131.666.680.598/C537221|C23.300.707.968/C537221 C10.500.680.598|C16.131.077|C16.131.666.680.598|C23.300.707.968 Agenesis of sacrum|Caudal Dysgenesis Syndrome|CAUDAL REGRESSION SYNDROME, INCLUDED|Hypoplasia of sacrum|Lumbosacral agenesis|Sacral agenesis|SACRAL AGENESIS, INCLUDED|Sacral defect anterior meningocele|Sacral Defect with Anterior Meningocele|SDAM CAUDAL DYSGENESIS SYNDROME, INCLUDED|SIRENOMELIA, INCLUDED Congenital abnormality|Nervous system disease|Pathology (anatomical condition) Sacral hemangiomas multiple congenital abnormalities MESH:C537222 MESH:D006223 C04.445.435/C537222|C04.651.435/C537222|C04.700.435/C537222|C16.320.700.435/C537222 C04.445.435|C04.651.435|C04.700.435|C16.320.700.435 Cancer|Genetic disease (inborn) Sacral meningocele conotruncal heart defects MESH:C537223 MESH:D000015|MESH:D006330|MESH:D008591 C10.500.680.610/C537223|C14.240.400/C537223|C14.280.400/C537223|C16.131.077/C537223|C16.131.240.400/C537223|C16.131.666.680.610/C537223 C10.500.680.610|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.666.680.610 Kousseff syndrome Cardiovascular disease|Congenital abnormality|Nervous system disease Sacral plexopathy MESH:C537224 MESH:D010523 C10.668.829/C537224 C10.668.829 Nervous system disease Sacrococcygeal dysgenesis association MESH:C537225 MESH:D009139 C05.660/C537225|C16.131.621/C537225 C05.660|C16.131.621 Congenital abnormality|Musculoskeletal disease Sacroiliitis MESH:D058566 Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy. MESH:D001168 C05.550.114.854 C05.550.114 Pyogenic Sacroiliitides|Pyogenic Sacroiliitis|Sacroiliitides|Sacroiliitides, Pyogenic|Sacroiliitides, Septic|Sacroiliitis, Pyogenic|Sacroiliitis, Septic|Septic Sacroiliitides|Septic Sacroiliitis Musculoskeletal disease Sadism MESH:D012448 DO:DOID:10817 A condition in which there is a derivation of pleasure from inflicting pain, discomfort or humiliation on another person or persons. The sexual significance of sadistic wishes or behavior may be conscious or unconscious. MESH:D010262 F03.657.700 F03.657 Sadisms|Sadism, Sexual|Sadisms, Sexual|Sexual Sadism|Sexual Sadisms Mental disorder Saethre-Chotzen Syndrome with Eyelid Anomalies MESH:C566325 MESH:D000168 C05.116.099.370.894.232.015/C566325|C05.116.099.370.894.819.100/C566325|C05.660.207.240.100/C566325|C05.660.585.800.100/C566325|C05.660.906.364.100/C566325|C05.660.906.819.100/C566325|C16.131.621.207.240.100/C566325|C16.131.621.585.800.100/C566325|C16.131.621.906.364.100/C566325|C16.131.621.906.819.100/C566325 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.660.207.240.100|C05.660.585.800.100|C05.660.906.364.100|C05.660.906.819.100|C16.131.621.207.240.100|C16.131.621.585.800.100|C16.131.621.906.364.100|C16.131.621.906.819.100 Congenital abnormality|Musculoskeletal disease Sagging rope sign MESH:C000721355 MESH:D001847 C05.116/C000721355 C05.116 Hanging rope sign Musculoskeletal disease Sagittal Sinus Thrombosis MESH:D020225 DO:DOID:3576 Formation or presence of a blood clot (THROMBUS) in the SUPERIOR SAGITTAL SINUS or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, CRANIOCEREBRAL TRAUMA; and NEUROSURGICAL PROCEDURES. Clinical features are primarily related to the increased intracranial pressure causing HEADACHE; NAUSEA; and VOMITING. Severe cases can evolve to SEIZURES or COMA. MESH:D012851 C10.228.140.300.525.425.500.750|C14.907.253.566.350.500.750|C14.907.355.590.213.350.500.750 C10.228.140.300.525.425.500|C14.907.253.566.350.500|C14.907.355.590.213.350.500 Phlebitis, Sagittal Sinus, Septic|Sagittal Sinus Septic Phlebitis|Sagittal Sinus Thrombophlebitis|Sagittal Sinus Thromboses|Septic Phlebitis, Sagittal Sinus|Sinus Thrombophlebitis, Sagittal|Sinus Thromboses, Sagittal|Sinus Thrombosis, Sagittal|Thrombophlebitis, Sagittal Sinus|Thromboses, Sagittal Sinus|Thrombosis, Sagittal Sinus Cardiovascular disease|Nervous system disease Saito Kuba Tsuruta syndrome MESH:C537226 MESH:D000013 C16.131/C537226 C16.131 Fibuloulnar aplasia or hypoplasia with renal abnormalities|Fibulo ulnar hypoplasia renal anomalies Congenital abnormality Sakati syndrome MESH:C537227 DO:DOID:0060359 MESH:D000168 C05.116.099.370.894.232.015/C537227|C05.116.099.370.894.819.100/C537227|C05.660.207.240.100/C537227|C05.660.585.800.100/C537227|C05.660.906.364.100/C537227|C05.660.906.819.100/C537227|C16.131.621.207.240.100/C537227|C16.131.621.585.800.100/C537227|C16.131.621.906.364.100/C537227|C16.131.621.906.819.100/C537227 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.660.207.240.100|C05.660.585.800.100|C05.660.906.364.100|C05.660.906.819.100|C16.131.621.207.240.100|C16.131.621.585.800.100|C16.131.621.906.364.100|C16.131.621.906.819.100 ACPS III|ACPS with Leg Hypoplasia|Acrocephalopolysyndactyly type 3|Acrocephalopolysyndactyly Type III|Sakati-Nyhan syndrome Congenital abnormality|Musculoskeletal disease Sakoda Complex MESH:C567055 MESH:D002971|MESH:D002972|MESH:D004677|MESH:D008588|MESH:D061085 C05.500.460.185/C567055|C05.660.207.540.460.185/C567055|C07.320.440.185/C567055|C07.465.409.225/C567055|C07.465.525.164/C567055|C07.465.525.185/C567055|C07.650.500.460.185/C567055|C07.650.525.164/C567055|C07.650.525.185/C567055|C10.500.034/C567055|C10.500.680.488/C567055|C10.500.680.598/C567055|C16.131.621.207.540.460.185/C567055|C16.131.666.034/C567055|C16.131.666.680.488/C567055|C16.131.666.680.598/C567055|C16.131.850.500.460.185/C567055|C16.131.850.525.164/C567055|C16.131.850.525.185/C567055|C23.300.008/C567055|C23.300.707.186/C567055|C23.300.707.968/C567055 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C10.500.034|C10.500.680.488|C10.500.680.598|C16.131.621.207.540.460.185|C16.131.666.034|C16.131.666.680.488|C16.131.666.680.598|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C23.300.008|C23.300.707.186|C23.300.707.968 Sakoda Spectrum|Sphenoethmoidal Encephalomeningocele, Agenesis of the Corpus Callosum, and Cleft Lip-Palate Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Saksenaea infection MESH:C000656948 MESH:D009091 C01.150.703.980.600/C000656948 C01.150.703.980.600 Saksenaea erythrospora infection|Saksenaea erythrospora infections|Saksenaea infections|Saksenaea vasiformis infection|Saksenaea vasiformis infections|S erythrospora infection|S. erythrospora infection|S erythrospora infections|S. erythrospora infections|S vasiformis infection|S. vasiformis infection|S vasiformis infections|S. vasiformis infections Bacterial infection or mycosis Salcedo syndrome MESH:C537228 MESH:D009261|MESH:D009394 C05.550.629/C537228|C12.050.351.875.742/C537228|C12.050.351.968.419.570.620/C537228|C12.200.706.742/C537228|C12.200.777.419.570.620/C537228|C12.800.742/C537228|C12.950.419.570.620/C537228|C16.131.077.606/C537228|C16.131.939.742/C537228|C16.320.600/C537228|C17.300.200.517/C537228|C17.800.529.400/C537228 C05.550.629|C12.050.351.875.742|C12.050.351.968.419.570.620|C12.200.706.742|C12.200.777.419.570.620|C12.800.742|C12.950.419.570.620|C16.131.077.606|C16.131.939.742|C16.320.600|C17.300.200.517|C17.800.529.400 Glomerular basement membrane disease, nail-patella syndrome type|Nail patella like renal disease|Nail-Patella-Like Renal Disease Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) Salivary Calculi MESH:D020792 The presence of calculi in a salivary duct or gland. MESH:D002137|MESH:D012466 C07.465.815.497|C23.300.175.700 C07.465.815|C23.300.175 Calculi, Salivary|Calculus, Salivary|Salivary Calculus Mouth disease|Pathology (anatomical condition) Salivary Duct Calculi MESH:D012465 Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts. MESH:D020792 C07.465.815.497.325|C23.300.175.700.325 C07.465.815.497|C23.300.175.700 Calculi, Salivary Duct|Calculus, Salivary Duct|Duct Calculi, Salivary|Duct Calculus, Salivary|Duct Stone, Salivary|Duct Stones, Salivary|Parotid Duct Calculi|Salivary Duct Calculus|Salivary Duct Stone|Salivary Duct Stones|Sialolithiases, Ductal|Sialolithiasis, Ductal|Stone, Salivary Duct|Stones, Salivary Duct|Submandibular Duct Calculi Mouth disease|Pathology (anatomical condition) Salivary Gland Adenoma, Pleomorphic MESH:C563250 OMIM:181030 MESH:D008949|MESH:D012468 C04.557.435.090/C563250|C04.557.470.035.155/C563250|C04.588.443.591.824/C563250|C07.465.530.824/C563250|C07.465.815.718/C563250 C04.557.435.090|C04.557.470.035.155|C04.588.443.591.824|C07.465.530.824|C07.465.815.718 PSA|SGPA Cancer|Mouth disease Salivary Gland Calculi MESH:D015494 DO:DOID:12905 Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands. MESH:D020792 C07.465.815.497.500|C23.300.175.700.500 C07.465.815.497|C23.300.175.700 Calculi, Salivary Gland|Calculus, Salivary Gland|Gland Calculi, Salivary|Gland Calculus, Salivary|Gland Stone, Salivary|Gland Stones, Salivary|Salivary Gland Calculus|Salivary Gland Stone|Salivary Gland Stones|Sialolith|Sialolithiasis|Sialoliths|Stone, Salivary Gland|Stones, Salivary Gland Mouth disease|Pathology (anatomical condition) Salivary Gland Diseases MESH:D012466 Diseases involving the SALIVARY GLANDS. MESH:D009059 C07.465.815 C07.465 Disease, Salivary Gland|Diseases, Salivary Gland|Gland Disease, Salivary|Gland Diseases, Salivary|Salivary Gland Disease Mouth disease Salivary Gland Fistula MESH:D012467 A fistula between a salivary duct or gland and the cutaneous surface of the oral cavity. MESH:D012466|MESH:D016155 C07.465.614.655|C07.465.815.655|C23.300.575.500.775 C07.465.614|C07.465.815|C23.300.575.500 Fistula, Salivary Gland|Fistulas, Salivary Gland|Gland Fistula, Salivary|Gland Fistulas, Salivary|Salivary Gland Fistulas Mouth disease|Pathology (anatomical condition) Salivary Gland Neoplasms MESH:D012468 Tumors or cancer of the SALIVARY GLANDS. MESH:D009062|MESH:D012466 C04.588.443.591.824|C07.465.530.824|C07.465.815.718 C04.588.443.591|C07.465.530|C07.465.815 Cancer of Salivary Gland|Cancer of the Salivary Gland|Cancer, Salivary Gland|Cancers, Salivary Gland|Gland Neoplasm, Salivary|Gland Neoplasms, Salivary|Lymphadenoma, Non-Sebaceous|Lymphadenoma, Salivary Gland|Lymphadenoma, Sebaceous|Lymphadenomas, Non-Sebaceous|Lymphadenomas, Salivary Gland|Lymphadenomas, Sebaceous|Neoplasm, Salivary Gland|Neoplasms, Salivary Gland|Non-Sebaceous Lymphadenoma|Non Sebaceous Lymphadenomas|Non-Sebaceous Lymphadenomas|Salivary Gland Cancer|Salivary Gland Cancers|Salivary Gland Lymphadenoma|Salivary Gland Lymphadenomas|Salivary Gland Neoplasm|Sebaceous Lymphadenoma|Sebaceous Lymphadenomas Cancer|Mouth disease Salmonella Food Poisoning MESH:D012478 Poisoning caused by ingestion of food harboring species of SALMONELLA. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply. MESH:D005517|MESH:D012480 C01.150.252.400.310.821.606|C25.723.415.738 C01.150.252.400.310.821|C25.723.415 Food Poisoning, Salmonella|Food Poisonings, Salmonella|Poisoning, Salmonella Food|Poisonings, Salmonella Food|Salmonella Food Poisonings Bacterial infection or mycosis Salmonella Infections MESH:D012480 Infections with bacteria of the genus SALMONELLA. MESH:D004756 C01.150.252.400.310.821 C01.150.252.400.310 Infection, Salmonella|Infections, Salmonella|Salmonella Infection|Salmonelloses|Salmonellosis Bacterial infection or mycosis Salmonella Infections, Animal MESH:D012481 Infections in animals with bacteria of the genus SALMONELLA. MESH:D000820|MESH:D012480 C01.150.252.400.310.821.706|C22.812 C01.150.252.400.310.821|C22 Animal Salmonella Infection|Animal Salmonella Infections|Infection, Animal Salmonella|Infections, Animal Salmonella|Salmonella Infection, Animal Animal disease|Bacterial infection or mycosis Salpingitis MESH:D012488 DO:DOID:5733 Inflammation of the uterine salpinx, the trumpet-shaped FALLOPIAN TUBES, usually caused by ascending infections of organisms from the lower reproductive tract. Salpingitis can lead to tubal scarring, hydrosalpinx, tubal occlusion, INFERTILITY, and ectopic pregnancy (PREGNANCY, ECTOPIC) MESH:D000292|MESH:D005184 C12.050.351.500.056.390.890|C12.050.351.500.056.750.875|C12.100.250.056.390.890|C12.100.250.056.750.875 C12.050.351.500.056.390|C12.050.351.500.056.750|C12.100.250.056.390|C12.100.250.056.750 Salpingitides Urogenital disease (female) Salter-Harris Fractures MESH:D000072042 Fractures involving a GROWTH PLATE. MESH:D000072039 C05.550.518.336.875|C26.289.336.875|C26.404.026.500 C05.550.518.336|C26.289.336|C26.404.026 Fracture, Growth Plate|Fractures, Growth Plate|Fractures, Salter-Harris|Growth Plate Fracture|Growth Plate Fractures|Growth Plate Injuries|Growth Plate Injury|Salter Harris Fractures Musculoskeletal disease|Wounds and injuries Sammartino De Crecchio Syndrome MESH:C537229 MESH:D003317|MESH:D007057|MESH:D008607|MESH:D008831 C05.660.207.620/C537229|C10.500.507.400.500/C537229|C10.597.606.360/C537229|C11.204.236/C537229|C11.270.162/C537229|C16.131.621.207.620/C537229|C16.131.666.507.400.500/C537229|C16.131.831.512/C537229|C16.320.290.162/C537229|C16.614.492/C537229|C17.800.428.333/C537229|C17.800.804.512/C537229|C23.888.592.604.646/C537229|F03.625.539/C537229 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C11.204.236|C11.270.162|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.831.512|C16.320.290.162|C16.614.492|C17.800.428.333|C17.800.804.512|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Genetic disease (inborn)|Infant-newborn disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Samson Gardner syndrome MESH:C537230 MESH:D005736 C04.557.470.035.215.100.500/C537230|C04.588.274.476.411.307.089.393/C537230|C04.700.100.392/C537230|C06.301.371.411.307.090.500/C537230|C06.405.249.411.307.090.500/C537230|C06.405.469.158.356.090.500/C537230|C06.405.469.491.307.090.500/C537230|C06.405.469.578.249.393/C537230|C16.131.077.393/C537230|C16.320.700.100.393/C537230 C04.557.470.035.215.100.500|C04.588.274.476.411.307.089.393|C04.700.100.392|C06.301.371.411.307.090.500|C06.405.249.411.307.090.500|C06.405.469.158.356.090.500|C06.405.469.491.307.090.500|C06.405.469.578.249.393|C16.131.077.393|C16.320.700.100.393 Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia Cancer|Congenital abnormality|Digestive system disease|Genetic disease (inborn) Samson Viljoen syndrome MESH:C537231 MESH:D000015|MESH:D000853|MESH:D002971|MESH:D002972|MESH:D008865 C05.500.460.185/C537231|C05.660.207.540.460.185/C537231|C07.320.440.185/C537231|C07.465.409.225/C537231|C07.465.525.164/C537231|C07.465.525.185/C537231|C07.465.525.520/C537231|C07.650.500.460.185/C537231|C07.650.525.164/C537231|C07.650.525.185/C537231|C07.650.525.520/C537231|C11.250.080/C537231|C16.131.077/C537231|C16.131.384.159/C537231|C16.131.621.207.540.460.185/C537231|C16.131.850.500.460.185/C537231|C16.131.850.525.164/C537231|C16.131.850.525.185/C537231|C16.131.850.525.520/C537231 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.465.525.520|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C07.650.525.520|C11.250.080|C16.131.077|C16.131.384.159|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.131.850.525.520 Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Sanderson Fraser syndrome MESH:C537232 MESH:D000015|MESH:D005094|MESH:D006228|MESH:D010855 C05.390.408/C537232|C05.500.460.606/C537232|C05.660.207.540.460.606/C537232|C05.660.585.988.425/C537232|C07.320.440.606/C537232|C07.650.500.460.606/C537232|C11.675.349/C537232|C16.131.077/C537232|C16.131.621.207.540.460.606/C537232|C16.131.621.585.988.500/C537232|C16.131.850.500.460.606/C537232 C05.390.408|C05.500.460.606|C05.660.207.540.460.606|C05.660.585.988.425|C07.320.440.606|C07.650.500.460.606|C11.675.349|C16.131.077|C16.131.621.207.540.460.606|C16.131.621.585.988.500|C16.131.850.500.460.606 Proptosis, Robin association, clenched hands, and multiple abnormalities Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease Sandhaus Ben-Ami syndrome MESH:C537233 MESH:D000015|MESH:D004827|MESH:D005532 C05.330.495/C537233|C05.660.585.512.380/C537233|C10.228.140.490/C537233|C16.131.077/C537233|C16.131.621.585.512.500/C537233 C05.330.495|C05.660.585.512.380|C10.228.140.490|C16.131.077|C16.131.621.585.512.500 Patella hypoplasia skeletal malformations Congenital abnormality|Musculoskeletal disease|Nervous system disease Sandhoff Disease MESH:D012497 DO:DOID:3323|OMIM:268800 An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE. MESH:D020143 C10.228.140.163.100.435.825.300.300.249|C16.320.565.189.435.825.300.300.249|C16.320.565.398.641.803.350.300.700|C16.320.565.595.554.825.300.300.800|C18.452.132.100.435.825.300.300.249|C18.452.584.563.641.803.350.300.700|C18.452.648.189.435.825.300.300.249|C18.452.648.398.641.803.350.300.700|C18.452.648.595.554.825.300.300.800 C10.228.140.163.100.435.825.300.300|C16.320.565.189.435.825.300.300|C16.320.565.398.641.803.350.300|C16.320.565.595.554.825.300.300|C18.452.132.100.435.825.300.300|C18.452.584.563.641.803.350.300|C18.452.648.189.435.825.300.300|C18.452.648.398.641.803.350.300|C18.452.648.595.554.825.300.300 Adult Sandhoff Disease|beta-Hexosaminidase-beta-Subunit Deficiencies|beta Hexosaminidase beta Subunit Deficiency|beta-Hexosaminidase-beta-Subunit Deficiency|Deficiency, beta-Hexosaminidase-beta-Subunit|Deficiency Disease, Hexosaminidase A and B|Deficiency, Total Hexosaminidase|Disease, Sandhoff-Jatzkewitz-Pilz|Gangliosidosis G(M2), Type II|Gangliosidosis GM2, Type II|GM2-Gangliosidoses, Type II|GM2 Gangliosidosis, Type 2|GM2 Gangliosidosis, Type II|GM2-Gangliosidosis, Type II|G(M2) Gangliosidosis, Type II|Hexosaminidase A and B Deficiency Disease|Hexosaminidase Deficiency, Total|Hexosaminidases A And B Deficiency|HEXOSAMINIDASES A AND B DEFICIENCY SANDHOFF DISEASE, ADULT TYPE, INCLUDED|Infantile Sandhoff Disease|Juvenile Sandhoff Disease|Sandhoff Disease, Adult|Sandhoff Disease, Adult Type|Sandhoff Disease, Infantile|Sandhoff Disease, Infantile Type|SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED|Sandhoff Disease, Juvenile|Sandhoff Disease, Juvenile Type|SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED|Sandhoff Jatzkewitz Pilz Disease|Sandhoff-Jatzkewitz-Pilz Disease|Sandhoff's Disease|Sandhoffs Disease|Total Hexosaminidase Deficiencies|Total Hexosaminidase Deficiency|Type II GM2-Gangliosidoses|Type II GM2-Gangliosidosis Genetic disease (inborn)|Metabolic disease|Nervous system disease Sandifer syndrome MESH:C537234 MESH:D005764|MESH:D014103 C06.405.117.119.500.484/C537234|C23.888.592.350.300.800/C537234 C06.405.117.119.500.484|C23.888.592.350.300.800 Sandifer's syndrome Digestive system disease|Signs and symptoms Santos Mateus Leal syndrome MESH:C537235 MESH:D006313|MESH:D006627|MESH:D006972|MESH:D017689 C05.116.099.370.231.480/C537235|C05.660.207.231.480/C537235|C05.660.585.600/C537235|C06.198.439/C537235|C06.405.469.158.701.439/C537235|C09.218.458.341.887.432/C537235|C09.218.807.186.432/C537235|C10.228.140.068.432/C537235|C10.597.751.418.341.887.432/C537235|C16.131.314.439/C537235|C16.131.621.207.231.480/C537235|C16.131.621.585.600/C537235|C23.888.592.763.393.341.887.432/C537235 C05.116.099.370.231.480|C05.660.207.231.480|C05.660.585.600|C06.198.439|C06.405.469.158.701.439|C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C16.131.314.439|C16.131.621.207.231.480|C16.131.621.585.600|C23.888.592.763.393.341.887.432 Hirschsprung disease, deafness and polydactyly Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Santos Syndrome MESH:C567819 MESH:D001848|MESH:D003025|MESH:D009264|MESH:D017689 C05.116.099/C567819|C05.330.488.655.063/C567819|C05.330.495.681.063/C567819|C05.660.585.512.380.813.063/C567819|C05.660.585.600/C567819|C16.131.621.585.512.500.681.063/C567819|C16.131.621.585.600/C567819|C23.300.820/C567819 C05.116.099|C05.330.488.655.063|C05.330.495.681.063|C05.660.585.512.380.813.063|C05.660.585.600|C16.131.621.585.512.500.681.063|C16.131.621.585.600|C23.300.820 Fibular Agenesis-Hypoplasia, Oligodactylous Clubfeet, and Anonychia-Nail Hypoplasia Syndrome Congenital abnormality|Musculoskeletal disease|Pathology (anatomical condition) Sao Paulo MCA-MR Syndrome MESH:C563119 MESH:D000015|MESH:D008607 C10.597.606.360/C563119|C16.131.077/C563119|C23.888.592.604.646/C563119|F03.625.539/C563119 C10.597.606.360|C16.131.077|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Nervous system disease|Signs and symptoms Saprochaete clavata infection MESH:C000656905 MESH:D000072742 C01.150.703.492/C000656905 C01.150.703.492 Geotrichum clavatum infection Bacterial infection or mycosis Sarcocystosis MESH:D012523 DO:DOID:9640 Infection of the striated muscle of mammals by parasites of the genus SARCOCYSTIS. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism. MESH:D003048 C01.610.752.250.634 C01.610.752.250 Sarcocystoses|Sarcosporidioses|Sarcosporidiosis Parasitic disease Sarcoglycanopathies MESH:D058088 OMIM:608099 Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. MESH:D009202|MESH:D012120|MESH:D049288 C05.651.534.500.280.500|C08.618.923|C10.668.491.175.500.149.500|C14.280.238.812|C16.320.577.280.500 C05.651.534.500.280|C08.618|C10.668.491.175.500.149|C14.280.238|C16.320.577.280 Adhalinopathies|Adhalinopathies, Primary|Adhalinopathy, Primary|Alpha Sarcoglycanopathies|Alpha-Sarcoglycanopathies|Alpha Sarcoglycanopathy|Alpha-Sarcoglycanopathy|DMDA2|Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2|Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2|LGMD2D|LGMDR3|Limb Girdle Muscular Dystrophy, Type 2D|Limb-Girdle Muscular Dystrophy, Type 2D|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3|Muscular Dystrophy, Limb-Girdle, Type 2D|Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency|Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency|Primary Adhalinopathies|Primary Adhalinopathy|Sarcoglycanopathy Cardiovascular disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Respiratory tract disease Sarcoidosis MESH:D012507 DO:DOID:11335|OMIM:181000|OMIM:612387|OMIM:612388 An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands. MESH:D006968|MESH:D008232 C15.604.515.827|C20.543.418.575 C15.604.515|C20.543.418 Besnier Boeck Disease|Besnier-Boeck Disease|Besnier Boeck Schaumann Syndrome|Besnier-Boeck-Schaumann Syndrome|Boeck Disease|Boeck Sarcoid|Boeck's Disease|Boecks Disease|Boeck's Sarcoid|Boecks Sarcoid|Disease, Schaumann|Sarcoid, Boeck's|Sarcoidoses|SARCOIDOSIS|SARCOIDOSIS, SUSCEPTIBILITY TO, 1|SARCOIDOSIS, SUSCEPTIBILITY TO, 2|SARCOIDOSIS, SUSCEPTIBILITY TO, 3|Schaumann Disease|Schaumann's Syndrome|Schaumann's Syndromes|Schaumann Syndrome|SS1|SS2|SS3|Syndrome, Besnier-Boeck-Schaumann|Syndrome, Schaumann|Syndrome, Schaumann's Immune system disease|Lymphatic disease Sarcoidosis, Pulmonary MESH:D017565 DO:DOID:13406 Sarcoidosis affecting predominantly the lungs, the site most frequently involved and most commonly causing morbidity and mortality in sarcoidosis. Pulmonary sarcoidosis is characterized by sharply circumscribed granulomas in the alveolar, bronchial, and vascular walls, composed of tightly packed cells derived from the mononuclear phagocyte system. The clinical symptoms when present are dyspnea upon exertion, nonproductive cough, and wheezing. (Cecil Textbook of Medicine, 19th ed, p431) MESH:D012507|MESH:D017563 C08.381.483.725|C15.604.515.827.725|C20.543.418.575.725 C08.381.483|C15.604.515.827|C20.543.418.575 Pulmonary Sarcoidoses|Pulmonary Sarcoidosis|Sarcoidoses, Pulmonary Immune system disease|Lymphatic disease|Respiratory tract disease Sarcoma MESH:D012509 DO:DOID:4235|DO:DOID:6193 A connective tissue neoplasm formed by proliferation of mesodermal cells; it is usually highly malignant. MESH:D018204 C04.557.450.795 C04.557.450 Epithelioid Sarcoma|Epithelioid Sarcomas|Sarcoma, Epithelioid|Sarcomas|Sarcomas, Epithelioid|Sarcoma, Soft Tissue|Sarcoma, Spindle Cell|Sarcomas, Soft Tissue|Sarcomas, Spindle Cell|Soft Tissue Sarcoma|Soft Tissue Sarcomas|Spindle Cell Sarcoma|Spindle Cell Sarcomas Cancer Sarcoma 180 MESH:D012510 An experimental sarcoma of mice. MESH:D012513 C04.557.450.795.830.780|C04.619.857.656 C04.557.450.795.830|C04.619.857 Crocker Sarcoma 180|Sarcoma 180, Crocker Cancer Sarcoma 37 MESH:D012511 An experimental sarcoma of mice. MESH:D012513 C04.557.450.795.830.760|C04.619.857.573 C04.557.450.795.830|C04.619.857 Cancer Sarcoma, Alveolar Soft Part MESH:D018234 DO:DOID:4239|OMIM:606243 A variety of rare sarcoma having a reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. It is a rare tumor, usually occurring between 15 and 35 years of age. It appears in the muscles of the extremities in adults and most commonly in the head and neck regions of children. Though slow-growing, it commonly metastasizes to the lungs, brain, bones, and lymph nodes. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1365) MESH:D009379|MESH:D012509 C04.557.450.590.775|C04.557.450.795.775 C04.557.450.590|C04.557.450.795 Alveolar Soft Part Sarcoma|Alveolar Soft-Part Sarcoma|ASPS Cancer Sarcoma, Avian MESH:D001357 Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses. MESH:D001715|MESH:D012192|MESH:D012513|MESH:D014412 C01.925.782.815.800|C01.925.928.800|C04.557.450.795.830.800|C04.619.857.800|C22.131.800 C01.925.782.815|C01.925.928|C04.557.450.795.830|C04.619.857|C22.131 Avian Sarcoma|Avian Sarcomas|Rous Sarcoma|Sarcoma, Rous|Sarcomas, Avian Animal disease|Cancer|Viral disease Sarcoma, Clear Cell MESH:D018227 DO:DOID:4233 A sarcoma of young adults occurring in the lower extremities and acral regions. It is found intimately bound to tendons as a circumscribed but unencapsulated melanin-bearing tumor of neuroectodermal origin. Clear cell sarcoma is associated with a specific t(12;22)(q13;q12) translocation. MESH:D009372|MESH:D012509 C04.557.450.565.800|C04.557.450.795.800 C04.557.450.565|C04.557.450.795 Clear Cell Sarcoma|Clear Cell Sarcoma of Soft Tissue|Clear Cell Sarcomas|Malignant Melanoma of Soft Parts|Melanoma, Malignant, of Soft Parts|Melanoma of Soft Parts|Sarcomas, Clear Cell Cancer Sarcoma, Endometrial Stromal MESH:D018203 DO:DOID:4226 A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS). MESH:D018193|MESH:D036821 C04.557.435.775|C04.557.450.795.332.500|C12.050.351.500.852.762.200.500.500|C12.050.351.937.418.875.200.374.500|C12.100.250.852.762.200.500.500|C12.900.418.875.200.374.500 C04.557.435|C04.557.450.795.332|C12.050.351.500.852.762.200.500|C12.050.351.937.418.875.200.374|C12.100.250.852.762.200.500|C12.900.418.875.200.374 Endometrial Stromal Sarcoma|Endometrial Stromal Sarcomas|Sarcomas, Endometrial Stromal|Stromal Sarcoma, Endometrial|Stromal Sarcomas, Endometrial Cancer|Urogenital disease (female) Sarcoma, Ewing MESH:D012512 DO:DOID:3369|OMIM:612219 A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. MESH:D012516 C04.557.450.565.575.650.800|C04.557.450.795.620.800 C04.557.450.565.575.650|C04.557.450.795.620 ASKIN TUMOR, INCLUDED|ES|Ewing Sarcoma|Ewing's Sarcoma|Ewings Sarcoma|Ewing's Tumor|Ewings Tumor|Ewing Tumor|NEUROEPITHELIOMA, PERIPHERAL, INCLUDED|PNE, INCLUDED|Sarcoma, Ewing's|Sarcoma, Ewings|Tumor, Ewing|Tumor, Ewing's Cancer Sarcoma, Experimental MESH:D012513 Experimentally induced neoplasms of CONNECTIVE TISSUE in animals to provide a model for studying human SARCOMA. MESH:D009374|MESH:D012509 C04.557.450.795.830|C04.619.857 C04.557.450.795|C04.619 EHS Tumor|Engelbreth-Holm-Swarm Sarcoma|Experimental Sarcoma|Experimental Sarcomas|Jensen Sarcoma|Sarcoma, Engelbreth Holm Swarm|Sarcoma, Engelbreth-Holm-Swarm|Sarcoma, Jensen|Sarcomas, Experimental|Tumor, EHS Cancer Sarcoma family syndrome of Li and Fraumeni MESH:C538639 MESH:D016864 C04.700.600/C538639|C16.320.700.600/C538639|C18.452.284.520/C538639 C04.700.600|C16.320.700.600|C18.452.284.520 Li-Fraumeni Syndrome 1|Sarcoma, Breast, Leukemia, and Adrenal Gland (SBLA) Syndrome Cancer|Genetic disease (inborn)|Metabolic disease Sarcoma, Kaposi MESH:D012514 DO:DOID:8632|OMIM:148000 A multicentric, malignant neoplastic vascular proliferation characterized by the development of bluish-red cutaneous nodules, usually on the lower extremities, most often on the toes or feet, and slowly increasing in size and number and spreading to more proximal areas. The tumors have endothelium-lined channels and vascular spaces admixed with variably sized aggregates of spindle-shaped cells, and often remain confined to the skin and subcutaneous tissue, but widespread visceral involvement may occur. Kaposi's sarcoma occurs spontaneously in Jewish and Italian males in Europe and the United States. An aggressive variant in young children is endemic in some areas of Africa. A third form occurs in about 0.04% of kidney transplant patients. There is also a high incidence in AIDS patients. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, pp2105-7) HHV-8 is the suspected cause. MESH:D006566|MESH:D009383|MESH:D012509 C01.925.256.466.860|C04.557.450.795.850|C04.557.645.750 C01.925.256.466|C04.557.450.795|C04.557.645 Kaposi Sarcoma|KAPOSI SARCOMA, SUSCEPTIBILITY TO|Kaposi's Sarcoma|Kaposis Sarcoma|MCD, INCLUDED|Multiple Idiopathic Pigmented Hemangiosarcoma|MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO MULTICENTRIC CASTLEMAN DISEASE, SUSCEPTIBILITY TO, INCLUDED|Sarcoma, Kaposi's Cancer|Viral disease Sarcoma, Myeloid MESH:D023981 DO:DOID:8683 An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA. MESH:D007951|MESH:D012509 C04.557.337.539.775|C04.557.450.795.853 C04.557.337.539|C04.557.450.795 Chloroma|Chloromas|Extramedullary Myeloid Cell Tumor|Granulocytic Sarcoma|Granulocytic Sarcomas|Myeloid Cell Tumor, Extramedullary|Myeloid Sarcoma|Myeloid Sarcomas|Sarcoma, Granulocytic|Sarcomas, Granulocytic|Sarcomas, Myeloid Cancer Sarcoma, Small Cell MESH:D018228 DO:DOID:3098 A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992) MESH:D009372|MESH:D012509 C04.557.450.565.825|C04.557.450.795.870 C04.557.450.565|C04.557.450.795 Cell Sarcoma, Small|Cell Sarcomas, Small|Sarcomas, Small Cell|Small Cell Sarcoma|Small Cell Sarcomas Cancer Sarcoma, Synovial MESH:D013584 DO:DOID:5485|OMIM:300813 A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363) MESH:D009372|MESH:D012509 C04.557.450.565.835|C04.557.450.795.875 C04.557.450.565|C04.557.450.795 Sarcomas, Synovial|Synovial Sarcoma|Synovial Sarcomas|Synovioma|Synoviomas Cancer Sarcoma, Yoshida MESH:D012517 An experimental sarcoma of rats. MESH:D012513 C04.557.450.795.830.850|C04.619.857.822 C04.557.450.795.830|C04.619.857 Reticulum Cell Like Sarcoma, Yoshida|Reticulum Cell-Like Sarcoma, Yoshida|Yoshida Sarcoma Cancer Sarcopenia MESH:D055948 Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles. MESH:D009133 C10.597.613.612.500|C23.300.070.500.500|C23.888.592.608.612.500 C10.597.613.612|C23.300.070.500|C23.888.592.608.612 Sarcopenias Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Sarcosinemia MESH:C537236 DO:DOID:0112307|OMIM:268900 MESH:D000592|MESH:D028361 C16.320.565.100/C537236|C18.452.648.100/C537236|C18.452.660/C537236 C16.320.565.100|C18.452.648.100|C18.452.660 Hypersarcosinemia|SARCOS|Sarcosin dehydrogenase complex, deficiency of|SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY|Sarcosine Dehydrogenase Complex, Deficiency Of|SARD Deficiency|SARDHD|SARDH Deficiency Genetic disease (inborn)|Metabolic disease Sarocladium kiliense infection MESH:C000656906 MESH:D000072742 C01.150.703.492/C000656906 C01.150.703.492 Acremonium kiliense infection Bacterial infection or mycosis Satoyoshi syndrome MESH:C536616 MESH:D000505|MESH:D003967|MESH:D013035 C10.597.613.750/C536616|C17.800.329.937.122/C536616|C23.300.035/C536616|C23.888.592.608.750/C536616|C23.888.821.214/C536616 C10.597.613.750|C17.800.329.937.122|C23.300.035|C23.888.592.608.750|C23.888.821.214 Komuragaeri Disease|Muscle spasms, intermittent with alopecia, diarrhea, and skeletal abnormalities|Muscle Spasms, Intermittent, With Alopecia, Diarrhea, And Skeletal Abnormalities Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Saul Wilkes Stevenson syndrome MESH:C536617 MESH:D005600 C10.597.606.360.455.500/C536617|C16.131.260.830.300/C536617|C16.320.180.830.300/C536617|C16.320.322.500.500/C536617|C16.320.400.525.500/C536617 C10.597.606.360.455.500|C16.131.260.830.300|C16.320.180.830.300|C16.320.322.500.500|C16.320.400.525.500 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Savant syndrome MESH:C000721847 MESH:D065886 F03.625/C000721847 F03.625 autistic savant syndrome|idiot savant syndrome Mental disorder Say Barber Miller syndrome MESH:C536618 MESH:D000361|MESH:D008831 C05.660.207.620/C536618|C10.500.507.400.500/C536618|C15.378.147.142/C536618|C15.604.515.032/C536618|C16.131.621.207.620/C536618|C16.131.666.507.400.500/C536618|C20.673.088/C536618 C05.660.207.620|C10.500.507.400.500|C15.378.147.142|C15.604.515.032|C16.131.621.207.620|C16.131.666.507.400.500|C20.673.088 Microcephaly hypogammaglobulinemia abnormal immunity Blood disease|Congenital abnormality|Immune system disease|Lymphatic disease|Musculoskeletal disease|Nervous system disease Say Field Coldwell syndrome MESH:C536619 MESH:D000015|MESH:D006228|MESH:D031222 C05.390.408/C536619|C05.550.518.625/C536619|C05.660.585.988.425/C536619|C16.131.077/C536619|C16.131.621.585.988.500/C536619|C26.289.625/C536619|C26.558.554.750/C536619 C05.390.408|C05.550.518.625|C05.660.585.988.425|C16.131.077|C16.131.621.585.988.500|C26.289.625|C26.558.554.750 Triphalangeal thumbs and dislocation of patella Congenital abnormality|Musculoskeletal disease|Wounds and injuries Say Meyer syndrome MESH:C536620 MESH:D000015|MESH:D006130|MESH:D019465 C05.660.207/C536620|C16.131.077/C536620|C16.131.621.207/C536620|C23.550.393/C536620 C05.660.207|C16.131.077|C16.131.621.207|C23.550.393 Trigonocephaly, short stature and developmental delay|Trigonocephaly, short stature, and retarded psychomotor development|Trigonocephaly with Short Stature and Developmental Delay Congenital abnormality|Musculoskeletal disease|Pathology (process) Say syndrome MESH:C536621 MESH:D000015|MESH:D002972|MESH:D006130|MESH:D008831 C05.500.460.185/C536621|C05.660.207.540.460.185/C536621|C05.660.207.620/C536621|C07.320.440.185/C536621|C07.465.525.185/C536621|C07.650.500.460.185/C536621|C07.650.525.185/C536621|C10.500.507.400.500/C536621|C16.131.077/C536621|C16.131.621.207.540.460.185/C536621|C16.131.621.207.620/C536621|C16.131.666.507.400.500/C536621|C16.131.850.500.460.185/C536621|C16.131.850.525.185/C536621|C23.550.393/C536621 C05.500.460.185|C05.660.207.540.460.185|C05.660.207.620|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.500.507.400.500|C16.131.077|C16.131.621.207.540.460.185|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.850.500.460.185|C16.131.850.525.185|C23.550.393 Cleft palate large ears small head|Cleft palate, microcephaly, large ears, and short stature|Say Barber Hobbs syndrome Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process) Scabies MESH:D012532 DO:DOID:8295 A contagious cutaneous inflammation caused by the bite of the mite SARCOPTES SCABIEI. It is characterized by pruritic papular eruptions and burrows and affects primarily the axillae, elbows, wrists, and genitalia, although it can spread to cover the entire body. MESH:D008924|MESH:D012876 C01.610.858.211.480.708|C17.800.838.775.800 C01.610.858.211.480|C17.800.838.775 Mange, Sarcoptic|Sarcoptic Mange Parasitic disease|Skin disease Scalp defects postaxial polydactyly MESH:C536622 MESH:D017689 C05.660.585.600/C536622|C16.131.621.585.600/C536622 C05.660.585.600|C16.131.621.585.600 Congenital scalp defects associated with postaxial polydactyly|Scalp Defects And Postaxial Polydactyly Congenital abnormality|Musculoskeletal disease Scalp Dermatoses MESH:D012536 DO:DOID:3136 Skin diseases involving the SCALP. MESH:D012871 C17.800.738 C17.800 Dermatoses, Scalp|Dermatosis, Scalp|Scalp Dermatosis Skin disease Scalp ear nipple syndrome MESH:C536623 DO:DOID:0111550|OMIM:181270 MESH:D000015|MESH:D007021|MESH:D009123 C10.597.613.575/C536623|C12.050.351.875.466/C536623|C12.100.500.494.400/C536623|C12.200.294.494.400/C536623|C12.200.706.516/C536623|C12.800.516/C536623|C16.131.077/C536623|C16.131.939.516/C536623|C23.888.592.608.575/C536623 C10.597.613.575|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.077|C16.131.939.516|C23.888.592.608.575 Finlay-Marks Syndrome|Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples|Scalp-Ear-Nipple Syndrome|SENS|SEN SYNDROME Congenital abnormality|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Scaphocephaly, Maxillary Retrusion, And Mental Retardation MESH:C566511 OMIM:609579 MESH:D003398|MESH:D008607|MESH:D063173 C05.116.099.370.894.232/C566511|C05.500.460.827/C566511|C05.660.207.240/C566511|C05.660.207.540.460.827/C566511|C05.660.906.364/C566511|C07.320.440.827/C566511|C07.320.610.827/C566511|C07.650.500.460.827/C566511|C10.597.606.360/C566511|C16.131.621.207.240/C566511|C16.131.621.207.540.460.827/C566511|C16.131.621.906.364/C566511|C16.131.850.500.460.827/C566511|C23.888.592.604.646/C566511|F03.625.539/C566511 C05.116.099.370.894.232|C05.500.460.827|C05.660.207.240|C05.660.207.540.460.827|C05.660.906.364|C07.320.440.827|C07.320.610.827|C07.650.500.460.827|C10.597.606.360|C16.131.621.207.240|C16.131.621.207.540.460.827|C16.131.621.906.364|C16.131.850.500.460.827|C23.888.592.604.646|F03.625.539 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT|SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Scapuloperoneal myopathy MESH:C536624 DO:DOID:0060253 MESH:D020389 C05.651.534.500.350/C536624|C10.668.491.175.500.350/C536624|C16.320.322.625/C536624|C16.320.577.350/C536624 C05.651.534.500.350|C10.668.491.175.500.350|C16.320.322.625|C16.320.577.350 Myopathy, scapuloperoneal|Scapuloperoneal syndrome, myopathic type Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Scapuloperoneal Myopathy, X-Linked Dominant MESH:C567481 OMIM:300695 MESH:D020389 C05.651.534.500.350/C567481|C10.668.491.175.500.350/C567481|C16.320.322.625/C567481|C16.320.577.350/C567481 C05.651.534.500.350|C10.668.491.175.500.350|C16.320.322.625|C16.320.577.350 Scapuloperoneal Myopathy, FHL1-Related|SPM Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY OMIM:181405 DO:DOID:0111552 MESH:D009134 C10.228.854.468/181405|C10.574.562.500/181405|C10.668.467.500/181405 C10.228.854.468|C10.574.562.500|C10.668.467.500 AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE|SPSMA Nervous system disease Scapuloperoneal Syndrome, Neurogenic, Kaeser Type MESH:C566695 DO:DOID:0111551|OMIM:181400 MESH:D009134|MESH:D020271 C10.228.854.468/C566695|C10.574.500/C566695|C10.574.562.500/C566695|C10.668.467.500/C566695|C16.320.400/C566695 C10.228.854.468|C10.574.500|C10.574.562.500|C10.668.467.500|C16.320.400 Kaeser Syndrome|SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER|SCPNK|Stark-Kaeser Syndrome Genetic disease (inborn)|Nervous system disease SCARF syndrome MESH:C536625 MESH:D000015|MESH:D003483|MESH:D008607|MESH:D019465 C05.660.207/C536625|C10.597.606.360/C536625|C16.131.077/C536625|C16.131.621.207/C536625|C16.320.850.180/C536625|C17.300.230/C536625|C17.800.827.180/C536625|C23.888.592.604.646/C536625|F03.625.539/C536625 C05.660.207|C10.597.606.360|C16.131.077|C16.131.621.207|C16.320.850.180|C17.300.230|C17.800.827.180|C23.888.592.604.646|F03.625.539 Skeletal Abnormalities, Cutis Laxa, Craniostenosis, Ambiguous Genitalia, Retardation, And Facial Abnormalities Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Scarlet Fever MESH:D012541 DO:DOID:8596 Infection with group A streptococci that is characterized by tonsillitis and pharyngitis. An erythematous rash is commonly present. MESH:D013290 C01.150.252.410.890.823 C01.150.252.410.890 Fever, Scarlet|Fevers, Scarlet|Scarlet Fevers Bacterial infection or mycosis scedosporiosis MESH:C000656924 MESH:D000072742 C01.150.703.492/C000656924 C01.150.703.492 Lomentospora prolificans infection|Lomentospora prolificans infections|pseudallescheriasis|Scedosporium infection|Scedosporium prolificans infection|Scedosporium prolificans infections Bacterial infection or mycosis Schaaf-Yang syndrome MESH:C000726748 MESH:D002658|MESH:D007018|MESH:D019066|MESH:D025063 C10.228.140.617.738.300/C000726748|C16.131.260/C000726748|C16.320.180/C000726748|C19.700.482/C000726748|C23.550.291.812/C000726748|F03.625.421/C000726748 C10.228.140.617.738.300|C16.131.260|C16.320.180|C19.700.482|C23.550.291.812|F03.625.421 Chitayat-Hall syndrome|Prader-Willi-like syndrome|SHFYNG Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process) Schaap Taylor Baraitser syndrome MESH:C536626 MESH:D002386|MESH:D006130|MESH:D006319|MESH:D006983 C09.218.458.341.887/C536626|C10.597.751.418.341.887/C536626|C11.510.245/C536626|C17.800.329.875/C536626|C23.550.393/C536626|C23.888.592.763.393.341.887/C536626 C09.218.458.341.887|C10.597.751.418.341.887|C11.510.245|C17.800.329.875|C23.550.393|C23.888.592.763.393.341.887 Cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature Ear-nose-throat disease|Eye disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Schaefer Stein Oshman syndrome MESH:C536627 MESH:D000015|MESH:D010009|MESH:D019465 C05.116.099.708/C536627|C05.660.207/C536627|C16.131.077/C536627|C16.131.621.207/C536627|C16.320.728/C536627 C05.116.099.708|C05.660.207|C16.131.077|C16.131.621.207|C16.320.728 Craniodiaphyseal dysplasia, dominant|Dominantly inherited craniodiaphyseal dysplasia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Scheuermann Disease MESH:D012544 DO:DOID:13300|OMIM:181440 A type of juvenile osteochondrosis affecting the fibrocartilaginous disc (INTERVERTEBRAL DISC) in the thoracic or thoracolumbar region of the SPINE. It is characterized by a forward concave SPINAL CURVATURE or KYPHOSIS. MESH:D007738|MESH:D055035 C05.116.821.500.500|C05.116.900.800.500.500|C05.116.900.808.500 C05.116.821.500|C05.116.900.800.500|C05.116.900.808 Adolescent Hyperkyphoses|Adolescent Hyperkyphosis|Adolescent Kyphoses|Adolescent Kyphosis|Hyperkyphoses, Adolescent|Hyperkyphosis, Adolescent|Juvenile Kyphoses|Juvenile Kyphoses, Scheuermann|Juvenile Kyphosis|Juvenile Kyphosis, Scheuermann|Juvenile Osteochondrosis of Spine|Kyphoses, Adolescent|Kyphoses, Juvenile|Kyphoses, Scheuermann|Kyphoses, Scheuermann Juvenile|Kyphoses, Scheuermann's|Kyphosis, Adolescent|Kyphosis, Juvenile|Kyphosis, Scheuermann|Kyphosis, Scheuermann Juvenile|Kyphosis, Scheuermann's|Scheuermann Juvenile Kyphoses|Scheuermann Juvenile Kyphosis|Scheuermann Kyphoses|Scheuermann Kyphosis|Scheuermann's Disease|Scheuermanns Disease|Scheuermann's Kyphoses|Scheuermann's Kyphosis|Scheuermanns Kyphosis|SPINAL OSTEOCHONDROSIS|Spine Juvenile Osteochondroses|Spine Juvenile Osteochondrosis Musculoskeletal disease Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias MESH:C563509 MESH:D002972|MESH:D007021|MESH:D019465 C05.500.460.185/C563509|C05.660.207.540.460.185/C563509|C05.660.207/C563509|C07.320.440.185/C563509|C07.465.525.185/C563509|C07.650.500.460.185/C563509|C07.650.525.185/C563509|C12.050.351.875.466/C563509|C12.100.500.494.400/C563509|C12.200.294.494.400/C563509|C12.200.706.516/C563509|C12.800.516/C563509|C16.131.621.207.540.460.185/C563509|C16.131.621.207/C563509|C16.131.850.500.460.185/C563509|C16.131.850.525.185/C563509|C16.131.939.516/C563509 C05.500.460.185|C05.660.207|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C16.131.621.207|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.131.939.516 Blepharofacioskeletal Syndrome|Cleft Palate, Hypotelorism, and Hypospadias|Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias Congenital abnormality|Mouth disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Schimke immunoosseous dysplasia MESH:C536629 DO:DOID:0060490|OMIM:242900 MESH:D000081207|MESH:D001161|MESH:D009404|MESH:D010009|MESH:D011655 C05.116.099.708/C536629|C08.381.746/C536629|C12.050.351.968.419.630.643/C536629|C12.200.777.419.630.643/C536629|C12.950.419.630.643/C536629|C14.907.137.126/C536629|C14.907.355.350.700/C536629|C16.320.728/C536629|C16.320.798/C536629|C20.673.795/C536629 C05.116.099.708|C08.381.746|C12.050.351.968.419.630.643|C12.200.777.419.630.643|C12.950.419.630.643|C14.907.137.126|C14.907.355.350.700|C16.320.728|C16.320.798|C20.673.795 Immunoosseous dysplasia Schimke type|Immunoosseous Dysplasia, Schimke Type|Schimke Immuno-Osseous Dysplasia|SIOD Cardiovascular disease|Genetic disease (inborn)|Immune system disease|Musculoskeletal disease|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Schimke X-linked mental retardation syndrome MESH:C536630 MESH:D003638|MESH:D006130|MESH:D008831|MESH:D009886|MESH:D038901 C05.660.207.620/C536630|C09.218.458.341.186/C536630|C10.292.562.750/C536630|C10.500.507.400.500/C536630|C10.597.606.360.455/C536630|C10.597.622.447/C536630|C10.597.751.418.341.186/C536630|C11.590.472/C536630|C16.131.621.207.620/C536630|C16.131.666.507.400.500/C536630|C16.320.322.500/C536630|C16.320.400.525/C536630|C23.550.393/C536630|C23.888.592.636.447/C536630|C23.888.592.763.393.341.186/C536630 C05.660.207.620|C09.218.458.341.186|C10.292.562.750|C10.500.507.400.500|C10.597.606.360.455|C10.597.622.447|C10.597.751.418.341.186|C11.590.472|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.322.500|C16.320.400.525|C23.550.393|C23.888.592.636.447|C23.888.592.763.393.341.186 Childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness|Choreoathetosis with mental retardation X- linked|Choreoathetosis With Mental Retardation, X-Linked|Progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Schindler Disease, Type I MESH:C536631 OMIM:609241|OMIM:609242 MESH:D016464|MESH:D019150 C10.228.140.744/C536631|C16.320.565.595/C536631|C18.452.648.595/C536631 C10.228.140.744|C16.320.565.595|C18.452.648.595 Alpha-Galactosidase B Deficiency|Alpha-Galnac Deficiency, Schindler Type|Alpha-N-Acetylgalactosaminidase Deficiency|Alpha-N-acetylgalactosaminidase deficiency adult onset|Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset|Alpha-N-acetylgalactosaminidase deficiency, type 1|Alpha-N-acetylgalactosaminidase deficiency type 2|Alpha-N-Acetylgalactosaminidase Deficiency, Type I|alpha-N-Acetylgalactosaminidase Deficiency, Type II|Alpha-N-Acetylgalactosaminidase Deficiency, Type III|Alpha-Naga Deficiency|Angiokeratoma Corporis Diffusum-Glycopeptiduria|Galb Deficiency|Kanzaki disease|Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum|Naga Deficiency|NAGA deficiency type 2|Naga Deficiency, Type I|NAGA DEFICIENCY, TYPE I ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III, INCLUDED|NAGA Deficiency, Type II|NAGA Deficiency, Type III|NAGA DEFICIENCY, TYPE III, INCLUDED|Neuroaxonal dystrophy, Schindler type|Neuronal Axonal Dystrophy, Schindler Type|Schindler Disease|Schindler disease, type 1|Schindler disease, type 2|Schindler Disease, Type II|Schindler Disease, Type III|SCHINDLER DISEASE, TYPE III, INCLUDED Genetic disease (inborn)|Metabolic disease|Nervous system disease Schinzel-Giedion syndrome MESH:C536632 OMIM:269150 MESH:D000015|MESH:D006228|MESH:D008607|MESH:D009264|MESH:D019465 C05.390.408/C536632|C05.660.207/C536632|C05.660.585.988.425/C536632|C10.597.606.360/C536632|C16.131.077/C536632|C16.131.621.207/C536632|C16.131.621.585.988.500/C536632|C23.300.820/C536632|C23.888.592.604.646/C536632|F03.625.539/C536632 C05.390.408|C05.660.207|C05.660.585.988.425|C10.597.606.360|C16.131.077|C16.131.621.207|C16.131.621.585.988.500|C23.300.820|C23.888.592.604.646|F03.625.539 Schinzel Giedion midface-retraction syndrome|Schinzel-Giedion Midface Retraction Syndrome|Schinzel-Giedion Midface-Retraction Syndrome|Schinzel Giedion syndrome|SGS Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Schisis association MESH:C536633 MESH:D009421 C10.500/C536633|C16.131.666/C536633 C10.500|C16.131.666 Midline development field defects Congenital abnormality|Nervous system disease Schistosomiasis MESH:D012552 Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East), SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States. MESH:D000079426|MESH:D014201 C01.610.335.865.859|C01.920.922 C01.610.335.865|C01.920 Bilharziases|Bilharziasis|Fever, Katayama|Infection, Schistoma|Infections, Schistoma|Katayama Fever|Schistoma Infection|Schistoma Infections|Schistosomiases Parasitic disease Schistosomiasis haematobia MESH:D012553 DO:DOID:1394 A human disease caused by the infection of parasitic worms SCHISTOSOMA HAEMATOBIUM. It is endemic in AFRICA and parts of the MIDDLE EAST. Tissue damages most often occur in the URINARY TRACT, specifically the URINARY BLADDER. MESH:D012552|MESH:D014552 C01.610.335.865.859.427|C01.915.775|C01.920.922.427|C12.050.351.968.892.775|C12.200.777.892.775|C12.950.892.775 C01.610.335.865.859|C01.915|C01.920.922|C12.050.351.968.892|C12.200.777.892|C12.950.892 Infection, Schistosoma haematobia|Infections, Schistosoma haematobia|Schistosoma haematobia Infection|Schistosoma haematobia Infections|Schistosomiases, Urinary|Schistosomiases, Urogenital|Schistosomiasis haematobium|Schistosomiasis, Urinary|Schistosomiasis, Urogenital|Urinary Schistosomiases|Urinary Schistosomiasis|Urogenital Schistosomiases|Urogenital Schistosomiasis Parasitic disease|Urogenital disease (female)|Urogenital disease (male) Schistosomiasis japonica MESH:D012554 DO:DOID:0050597 Schistosomiasis caused by Schistosoma japonicum. It is endemic in the ASIA, EASTERN and affects the bowel, liver, and spleen. MESH:D012552 C01.610.335.865.859.521|C01.920.922.521 C01.610.335.865.859|C01.920.922 Infection, Schistosoma japonicum|Infections, Schistosoma japonicum|Schistosoma japonicum Infection|Schistosoma japonicum Infections|Schistosomiasis japonicum Parasitic disease Schistosomiasis mansoni MESH:D012555 DO:DOID:0050597|OMIM:181460 Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver. MESH:D012552 C01.610.335.865.859.576|C01.920.922.576 C01.610.335.865.859|C01.920.922 Infection, Schistosoma mansoni|Infections, Schistosoma mansoni|Intestinal Schistosomiases|Intestinal Schistosomiasis|Schistosoma mansoni Infection|Schistosoma mansoni Infections|SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO|SCHISTOSOMA MANSONI, INTENSITY OF INFECTION BY|Schistosomiases, Intestinal|Schistosomiasis, Intestinal|SM1 Parasitic disease Schizencephaly MESH:D065707 Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures. MESH:D065704 C10.500.507.500.750|C16.131.666.507.500.750 C10.500.507.500|C16.131.666.507.500 Cleft, Schizencephalic|Clefts, Schizencephalic|Cyst, Schizencephalic|Cysts, Schizencephalic|Schizencephalic Cleft|Schizencephalic Clefts|Schizencephalic Cyst|Schizencephalic Cysts|Schizencephalies Congenital abnormality|Nervous system disease Schizoid Personality Disorder MESH:D012557 DO:DOID:10936 A personality disorder manifested by a profound defect in the ability to form social relationships, no desire for social involvement, and an indifference to praise or criticism. MESH:D010554 F03.675.700 F03.675 Disorder, Schizoid Personality|Disorders, Schizoid Personality|Personalities, Schizoid|Personality Disorder, Schizoid|Personality Disorders, Schizoid|Personality, Schizoid|Schizoid Personalities|Schizoid Personality|Schizoid Personality Disorders Mental disorder Schizophrenia MESH:D012559 DO:DOID:5419|OMIM:181500|OMIM:181510|OMIM:600511|OMIM:600850|OMIM:603013|OMIM:603175|OMIM:603176|OMIM:603206|OMIM:603342|OMIM:604906|OMIM:608078|OMIM:608543|OMIM:612361|OMIM:613025|OMIM:613950|OMIM:615232 A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior. MESH:D019967 F03.700.750 F03.700 Dementia Praecox|Disorder, Schizophrenic|Disorders, Schizophrenic|SCHIZOPHRENIA 1|SCHIZOPHRENIA 11|SCHIZOPHRENIA 12|SCHIZOPHRENIA 13|SCHIZOPHRENIA 14|SCHIZOPHRENIA 15|SCHIZOPHRENIA 15 WITH OR WITHOUT AN AFFECTIVE DISORDER|SCHIZOPHRENIA 18|SCHIZOPHRENIA 18 WITH OR WITHOUT AN AFFECTIVE DISORDER|SCHIZOPHRENIA 1 WITH OR WITHOUT AN AFFECTIVE DISORDER|SCHIZOPHRENIA 2|SCHIZOPHRENIA 3|SCHIZOPHRENIA 3 WITH OR WITHOUT AN AFFECTIVE DISORDER|SCHIZOPHRENIA 4|SCHIZOPHRENIA 5|SCHIZOPHRENIA 5 WITH OR WITHOUT AN AFFECTIVE DISORDER|SCHIZOPHRENIA 6|SCHIZOPHRENIA 7|SCHIZOPHRENIA 7 WITH OR WITHOUT AN AFFECTIVE DISORDER|SCHIZOPHRENIA 8|SCHIZOPHRENIA 8 WITH OR WITHOUT AN AFFECTIVE DISORDER|SCHIZOPHRENIA 9|SCHIZOPHRENIA 9 WITH OR WITHOUT AN AFFECTIVE DISORDER|Schizophrenias|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 10q-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 11q-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q13-q14-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 18-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1q42-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 2q32-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 5-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6q-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6-RELATED|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 8p-RELATED|SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER|Schizophrenic Disorder|Schizophrenic Disorders|SCZD|SCZD1|SCZD11|SCZD12|SCZD13|SCZD14|SCZD15|SCZD18|SCZD2|SCZD3|SCZD4|SCZD5|SCZD6|SCZD7|SCZD8|SCZD9 Mental disorder Schizophrenia, Catatonic MESH:D012560 OMIM:605419 A type of schizophrenia characterized by abnormality of motor behavior which may involve particular forms of stupor, rigidity, excitement or inappropriate posture. MESH:D012559 F03.700.750.300 F03.700.750 CATATONIA, PERIODIC|Catatonic Schizophrenia|Catatonic Schizophrenias|SCHIZOPHRENIA 10|Schizophrenias, Catatonic|SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q15-RELATED|SCZD10 Mental disorder Schizophrenia, Childhood MESH:D012561 An obsolete concept, historically used for childhood mental disorders thought to be a form of schizophrenia. It was in earlier versions of DSM but is now included within the broad concept of PERVASIVE DEVELOPMENT DISORDERS. MESH:D065886 F03.625.968 F03.625 Childhood Onset Schizophrenia|Childhood-Onset Schizophrenia|Childhood Schizophrenia|Schizophrenia, Childhood-Onset Mental disorder Schizophrenia, Disorganized MESH:D012562 A type of schizophrenia characterized by frequent incoherence; marked loosening of associations, or grossly disorganized behavior and flat or grossly inappropriate affect that does not meet the criteria for the catatonic type; associated features include extreme social withdrawal, grimacing, mannerisms, mirror gazing, inappropriate giggling, and other odd behavior. (Dorland, 27th ed) MESH:D012559 F03.700.750.350 F03.700.750 Disorganized Schizophrenia|Disorganized Schizophrenias|Hebephrenic Schizophrenia|Hebephrenic Schizophrenias|Schizophrenia, Hebephrenic|Schizophrenias, Disorganized|Schizophrenias, Hebephrenic Mental disorder Schizophrenia, Paranoid MESH:D012563 DO:DOID:1229|DO:DOID:778 A chronic form of schizophrenia characterized primarily by the presence of persecutory or grandiose delusions, often associated with hallucination. MESH:D012559 F03.700.750.600 F03.700.750 Delusional Disorder|Delusional Disorders|Disorder, Delusional|Disorders, Delusional|Paranoid Schizophrenia|Paranoid Schizophrenias|Schizophrenias, Paranoid Mental disorder Schizophrenia Spectrum and Other Psychotic Disorders MESH:D019967 Marked disorders of thought (delusions, hallucinations, or other thought disorder accompanied by disordered affect or behavior), and deterioration from a previous level of functioning. Individuals have one o more of the following symptoms: delusions, hallucinations, and disorganized speech. (from DSM-5) MESH:D001523 F03.700 F03 Schizophrenia and Disorders with Psychotic Features Mental disorder Schizophrenia, Treatment-Resistant MESH:D000090663 A subset of schizophrenia with an inadequate response in target symptoms following treatment with two or more ANTIPSYCHOTICS. MESH:D012559 F03.700.750.650 F03.700.750 Refractory Schizophrenia|Schizophrenia, Refractory|Schizophrenia, Treatment Resistant|Treatment Resistant Schizophrenia|Treatment-Resistant Schizophrenia Mental disorder Schizotaxia MESH:C536634 MESH:D012569 F03.675.725/C536634 F03.675.725 Mental disorder Schizotypal Personality Disorder MESH:D012569 DO:DOID:10646 A personality disorder in which there are oddities of thought (magical thinking, paranoid ideation, suspiciousness), perception (illusions, depersonalization), speech (digressive, vague, overelaborate), and behavior (inappropriate affect in social interactions, frequently social isolation) that are not severe enough to characterize schizophrenia. MESH:D010554 F03.675.725 F03.675 Borderline Schizophrenia|Borderline Schizophrenias|Disorder, Schizotypal Personality|Disorders, Schizotypal Personality|Incipient Schizophrenia|Incipient Schizophrenias|Latent Schizophrenia|Latent Schizophrenias|Personality Disorder, Schizotypal|Personality Disorders, Schizotypal|Pseudoneurotic Schizophrenia|Pseudoneurotic Schizophrenias|Pseudopsychopathic Schizophrenia|Pseudopsychopathic Schizophrenias|Schizophrenia, Borderline|Schizophrenia, Incipient|Schizophrenia, Latent|Schizophrenia, Pseudoneurotic|Schizophrenia, Pseudopsychopathic|Schizophrenias, Borderline|Schizophrenias, Incipient|Schizophrenias, Latent|Schizophrenias, Pseudoneurotic|Schizophrenias, Pseudopsychopathic|Schizotypal Personality Disorders Mental disorder Schlegelberger Grote syndrome MESH:C536635 MESH:D000013|MESH:D003638|MESH:D013915 C09.218.458.341.186/C536635|C10.597.751.418.341.186/C536635|C15.378.100.100.820/C536635|C15.378.140.810/C536635|C15.378.463.810/C536635|C16.131/C536635|C16.320.099.820/C536635|C23.888.592.763.393.341.186/C536635 C09.218.458.341.186|C10.597.751.418.341.186|C15.378.100.100.820|C15.378.140.810|C15.378.463.810|C16.131|C16.320.099.820|C23.888.592.763.393.341.186 Syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear|Triphalangeal thumbs thrombocytopathy deafness Blood disease|Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Schmid-Fraccaro syndrome MESH:C535918 OMIM:115470 MESH:D000782|MESH:D005124|MESH:D025063 C11.250/C535918|C16.131.260/C535918|C16.131.384/C535918|C16.320.180/C535918|C23.550.210.050/C535918 C11.250|C16.131.260|C16.131.384|C16.320.180|C23.550.210.050 Cat Eye syndrome|CES|Chromosome 22 partial tetrasomy|INV DUP(22)(Q11)|SCHMID-FRACCARO SYNDROME Congenital abnormality|Eye disease|Genetic disease (inborn)|Pathology (process) Schneckenbecken dysplasia MESH:C536637 DO:DOID:0050775|OMIM:269250 MESH:D010009 C05.116.099.708/C536637|C16.320.728/C536637 C05.116.099.708|C16.320.728 Chondrodysplasia, lethal neonatal, with snail-like pelvis|SHNKND Genetic disease (inborn)|Musculoskeletal disease Schnitzler Syndrome MESH:D019873 DO:DOID:4371 An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate. MESH:D008998 C20.683.780.640.700 C20.683.780.640 Immune system disease Schofer Beetz Bohl syndrome MESH:C535949 MESH:D001928|MESH:D002114|MESH:D003919|MESH:D008607 C10.228.140.163/C535949|C10.597.606.360/C535949|C12.050.351.968.419.135/C535949|C12.200.777.419.135/C535949|C12.950.419.135/C535949|C18.452.132/C535949|C18.452.174.130/C535949|C19.700.159/C535949|C23.888.592.604.646/C535949|F03.625.539/C535949 C10.228.140.163|C10.597.606.360|C12.050.351.968.419.135|C12.200.777.419.135|C12.950.419.135|C18.452.132|C18.452.174.130|C19.700.159|C23.888.592.604.646|F03.625.539 Endocrine system disease|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Scholte syndrome MESH:C536638 MESH:D000505|MESH:D007006|MESH:D008607 C10.597.606.360/C536638|C17.800.329.937.122/C536638|C19.391.482/C536638|C23.300.035/C536638|C23.888.592.604.646/C536638|F03.625.539/C536638 C10.597.606.360|C17.800.329.937.122|C19.391.482|C23.300.035|C23.888.592.604.646|F03.625.539 Early balding, patella luxation, acromicria and hypogonadism|Early Balding, Patella Luxation, Acromicria, And Hypogonadism Endocrine system disease|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Schopf-Schulz-Passarge Syndrome MESH:C565607 DO:DOID:0111647|OMIM:224750 MESH:D000848|MESH:D005142|MESH:D007039|MESH:D007645 C04.588.443.392.500/C565607|C07.650.800.100/C565607|C07.793.700.100/C565607|C11.319.421/C565607|C11.338.526/C565607|C16.131.850.800.100/C565607|C16.320.850.475/C565607|C17.800.329.937/C565607|C17.800.428.435/C565607|C17.800.827.475/C565607 C04.588.443.392.500|C07.650.800.100|C07.793.700.100|C11.319.421|C11.338.526|C16.131.850.800.100|C16.320.850.475|C17.800.329.937|C17.800.428.435|C17.800.827.475 Eccrine Tumors With Ectodermal Dysplasia|Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis|SSPS Cancer|Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease|Skin disease Schrander-Stumpel Theunissen Hulsmans syndrome MESH:C536639 MESH:D000015|MESH:D002972|MESH:D008607|MESH:D014820|MESH:D019066 C05.500.460.185/C536639|C05.660.207.540.460.185/C536639|C07.320.440.185/C536639|C07.465.525.185/C536639|C07.650.500.460.185/C536639|C07.650.525.185/C536639|C10.597.606.360/C536639|C16.131.077/C536639|C16.131.621.207.540.460.185/C536639|C16.131.850.500.460.185/C536639|C16.131.850.525.185/C536639|C17.800.621.440.895/C536639|C23.550.291.812/C536639|C23.888.592.604.646/C536639|F03.625.539/C536639 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.597.606.360|C16.131.077|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C17.800.621.440.895|C23.550.291.812|C23.888.592.604.646|F03.625.539 Vitiligo, psychomotor retardation, cleft palate and facial dysmorphism|Vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Schwannomatosis MESH:C536641 DO:DOID:3204|OMIM:162091|OMIM:615670 MESH:D009442|MESH:D012878|MESH:D017253 C04.557.465.625.650.595/C536641|C04.557.580.600.580.590/C536641|C04.557.580.600.610.595/C536641|C04.557.580.625.650.595/C536641|C04.588.805/C536641|C04.700.631/C536641|C10.562.600/C536641|C10.574.500.549/C536641|C16.320.400.560/C536641|C16.320.700.633/C536641|C17.800.882/C536641 C04.557.465.625.650.595|C04.557.580.600.580.590|C04.557.580.600.610.595|C04.557.580.625.650.595|C04.588.805|C04.700.631|C10.562.600|C10.574.500.549|C16.320.400.560|C16.320.700.633|C17.800.882 Neurilemmomatosis, congenital cutaneous|Schwannomatosis 1|SCHWANNOMATOSIS 2|SWN1|SWN2|SWNTS1|SWNTS2 Cancer|Genetic disease (inborn)|Nervous system disease|Skin disease Schwartz Cohen-Addad Lambert syndrome MESH:C535835 MESH:D006849|MESH:D008548|MESH:D008591 C10.228.140.602/C535835|C10.500.680.610/C535835|C16.131.666.680.610/C535835|C17.800.621.430.530/C535835 C10.228.140.602|C10.500.680.610|C16.131.666.680.610|C17.800.621.430.530 Congenital melanocytosis with myelomeningocele and hydrocephalus Congenital abnormality|Nervous system disease|Skin disease Schwartz-Lelek syndrome MESH:C537519 MESH:D001848|MESH:D006972|MESH:D015576|MESH:D019465 C05.116.099.370.231.480/C537519|C05.116.099/C537519|C05.116.540/C537519|C05.660.207.231.480/C537519|C05.660.207/C537519|C16.131.621.207.231.480/C537519|C16.131.621.207/C537519 C05.116.099|C05.116.099.370.231.480|C05.116.540|C05.660.207|C05.660.207.231.480|C16.131.621.207|C16.131.621.207.231.480 Craniometadiaphyseal dysplasia|Craniometaphyseal dysplasia|Genetic craniotubular bone dysplasias and hyperostoses Congenital abnormality|Musculoskeletal disease Schweitzer Kemink Graham syndrome MESH:C536511 MESH:D006314|MESH:D008844 C05.500.460.457/C536511|C05.660.207.540.460.457/C536511|C07.320.440.457/C536511|C07.650.500.460.457/C536511|C09.218.458.341.562/C536511|C10.597.751.418.341.562/C536511|C16.131.621.207.540.460.457/C536511|C16.131.850.500.460.457/C536511|C23.888.592.763.393.341.562/C536511 C05.500.460.457|C05.660.207.540.460.457|C07.320.440.457|C07.650.500.460.457|C09.218.458.341.562|C10.597.751.418.341.562|C16.131.621.207.540.460.457|C16.131.850.500.460.457|C23.888.592.763.393.341.562 Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia|Thickened earlobes with conductive deafness from incus-stapes abnormalities Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Sciatica MESH:D012585 A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of SCIATIC NEUROPATHY; RADICULOPATHY (involving the SPINAL NERVE ROOTS; L4, L5, S1, or S2, often associated with INTERVERTEBRAL DISK DISPLACEMENT); or lesions of the CAUDA EQUINA. MESH:D009437|MESH:D020426 C10.668.829.500.675.800|C10.668.829.600.800|C23.888.592.612.664.800 C10.668.829.500.675|C10.668.829.600|C23.888.592.612.664 Bilateral Sciatica|Bilateral Sciaticas|Neuralgia, Sciatic|Neuralgias, Sciatic|Sciatica, Bilateral|Sciatic Neuralgia|Sciatic Neuralgias Nervous system disease|Signs and symptoms Sciatic Neuropathy MESH:D020426 DO:DOID:11446|DO:DOID:12528 Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363) MESH:D020422 C10.668.829.500.675 C10.668.829.500 Lesion of Sciatic Nerve|Nerve Disease, Sciatic|Nerve Diseases, Sciatic|Nerve Lesion, Sciatic|Nerve Lesions, Sciatic|Nerve Palsies, Sciatic|Nerve Palsy, Sciatic|Neuralgia-Neuritides, Sciatic Nerve|Neuralgia Neuritis, Sciatic Nerve|Neuralgia-Neuritis, Sciatic Nerve|Neuritides, Sciatic|Neuritis, Sciatic|Neuropathies, Sciatic|Neuropathy, Sciatic|Palsies, Sciatic Nerve|Palsy, Sciatic Nerve|Sciatic Nerve Disease|Sciatic Nerve Diseases|Sciatic Nerve Lesion|Sciatic Nerve Lesions|Sciatic Nerve Neuralgia-Neuritides|Sciatic Nerve Neuralgia-Neuritis|Sciatic Nerve Palsies|Sciatic Nerve Palsy|Sciatic Neuritides|Sciatic Neuritis|Sciatic Neuropathies Nervous system disease Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities MESH:C564262 MESH:D006330|MESH:D012587|MESH:D019465 C05.660.207/C564262|C08.381.844/C564262|C08.695.815/C564262|C14.240.400/C564262|C14.240.850.968/C564262|C14.280.400/C564262|C14.907.780/C564262|C16.131.240.400/C564262|C16.131.240.850.937/C564262|C16.131.621.207/C564262|C16.131.740.815/C564262 C05.660.207|C08.381.844|C08.695.815|C14.240.400|C14.240.850.968|C14.280.400|C14.907.780|C16.131.240.400|C16.131.240.850.937|C16.131.621.207|C16.131.740.815 Anomalous Pulmonary Venous Return, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Respiratory tract disease Scimitar Syndrome MESH:D012587 DO:DOID:4297|OMIM:106700 An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart. MESH:D008171|MESH:D014652|MESH:D015619|MESH:D054079 C08.381.844|C08.695.815|C14.240.850.968|C14.907.780|C16.131.240.850.937|C16.131.740.815 C08.381|C08.695|C14.240.850|C14.907|C16.131.240.850|C16.131.740 Anomalous Pulmonary Venous Return|Anomaly, Scimitar|APVR|Pulmonary Venous Return Anomaly|Scimitar Anomaly|SCIMITAR SYNDROME|TAPVR|TAPVR1|Total Anomalous Pulmonary Venous Return|Total Anomalous Pulmonary Venous Return 1 Cardiovascular disease|Congenital abnormality|Respiratory tract disease Scleral Diseases MESH:D015422 DO:DOID:11343 General disorders of the sclera or white of the eye. They may include anatomic, embryologic, degenerative, or pigmentation defects. MESH:D005128 C11.790 C11 Disease, Sclera|Disease, Scleral|Diseases, Sclera|Diseases, Scleral|Sclera Disease|Sclera Diseases|Scleral Disease Eye disease Scleredema Adultorum MESH:D012592 DO:DOID:3140 A diffuse, non-pitting induration of the skin of unknown etiology that occurs most commonly in association with diabetes mellitus, predominantly in females. It typically begins on the face or head and spreads to other areas of the body, sometimes involving noncutaneous tissues. Often it is preceded by any of various infections, notably staphylococcal infections. The condition resolves spontaneously, usually within two years of onset. (From Dorland, 27th ed) MESH:D012871|MESH:D017520 C17.300.550.750|C17.800.751 C17.300.550|C17.800 Buschke Scleredema|Buschke Scleredema Adultorum|Buschke Scleredema Diabeticorum|Buschke's Scleredema|Buschkes Scleredema|Diabeticorum, Scleredema|Diabeticorums, Scleredema|Scleredema|Scleredema Adultorum of Buschke|Scleredema, Buschke's|Scleredema Diabeticorum|Scleredema Diabeticorum of Buschke|Scleredema Diabeticorums|Scleredemas Connective tissue disease|Skin disease Sclerema Neonatorum MESH:D012593 A severe, sometimes fatal, disorder of adipose tissue occurring chiefly in preterm or debilitated infants suffering from an underlying illness and manifested by a diffuse, nonpitting induration of the affected tissue. The skin becomes cold, yellowish, mottled, and inflexible. MESH:D007232|MESH:D012868 C16.131.831.812|C16.614.810|C17.800.804.812 C16.131.831|C16.614|C17.800.804 Congenital abnormality|Infant-newborn disease|Skin disease Scleritis MESH:D015423 DO:DOID:13452 Refers to any inflammation of the sclera including episcleritis, a benign condition affecting only the episclera, which is generally short-lived and easily treated. Classic scleritis, on the other hand, affects deeper tissue and is characterized by higher rates of visual acuity loss and even mortality, particularly in necrotizing form. Its characteristic symptom is severe and general head pain. Scleritis has also been associated with systemic collagen disease. Etiology is unknown but is thought to involve a local immune response. Treatment is difficult and includes administration of anti-inflammatory and immunosuppressive agents such as corticosteroids. Inflammation of the sclera may also be secondary to inflammation of adjacent tissues, such as the conjunctiva. MESH:D015422 C11.790.500 C11.790 Episcleritides|Episcleritis|Necrotizing Scleritides|Necrotizing Scleritis|Scleritides|Scleritides, Necrotizing|Scleritis, Necrotizing Eye disease Scleroatonic muscular dystrophy MESH:C537521 OMIM:254090|OMIM:616470 MESH:D009136|MESH:D012598 C05.651.534.500/C537521|C10.668.491.175.500/C537521|C16.320.577/C537521|C23.550.823/C537521 C05.651.534.500|C10.668.491.175.500|C16.320.577|C23.550.823 Late onset scleroatonic familial myopathy|LGMDR22|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 22|Muscular Dystrophy, Scleroatonic|UCMD|UCMD1|UCMD2|Ullrich congenital muscular dystrophy|Ullrich congenital muscular dystrophy 1|ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2|Ullrich disease|Ullrich scleroatonic muscular dystrophy Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process) Sclerocornea MESH:C565209 DO:DOID:0060252 MESH:D003316 C11.204/C565209 C11.204 Eye disease Sclerocornea, Autosomal Dominant MESH:C566692 MESH:D003316 C11.204/C566692 C11.204 Eye disease Scleroderma, Diffuse MESH:D045743 DO:DOID:1580 A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability. MESH:D012595 C17.300.799.602|C17.800.784.602 C17.300.799|C17.800.784 Diffuse Cutaneous Systemic Sclerosis|Diffuse Scleroderma|Diffuse Systemic Scleroses|Diffuse Systemic Sclerosis|Progressive Scleroderma|Progressive Systemic Sclerosis|Scleroderma, Progressive|Sclerodermas, Sudden Onset|Scleroderma, Sudden Onset|Scleroses, Diffuse Systemic|Sclerosis, Diffuse Systemic|Sclerosis, Progressive Systemic|Sudden Onset Scleroderma|Sudden Onset Sclerodermas|Systemic Scleroses, Diffuse|Systemic Sclerosis, Diffuse|Systemic Sclerosis, Progressive Connective tissue disease|Skin disease SCLERODERMA, FAMILIAL PROGRESSIVE OMIM:181750 DO:DOID:418 MESH:D012595 C17.300.799/181750|C17.800.784/181750 C17.300.799|C17.800.784 SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TO CREST SYNDROME, INCLUDED Connective tissue disease|Skin disease Scleroderma, Limited MESH:D045745 DO:DOID:1577 The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma. MESH:D012595 C17.300.799.801|C17.800.784.801 C17.300.799|C17.800.784 Limited Scleroderma|Limited Systemic Scleroderma|Limited Systemic Sclerodermas|Scleroderma, Limited Systemic|Sclerodermas, Limited Systemic|Systemic Scleroderma, Limited|Systemic Sclerodermas, Limited Connective tissue disease|Skin disease Scleroderma, Localized MESH:D012594 DO:DOID:419|DO:DOID:8472 A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules. MESH:D003240|MESH:D012871 C17.300.787|C17.800.767 C17.300|C17.800 Circumscribed Scleroderma|Dermatosclerosis|Frontal Linear Scleroderma en Coup de Sabre|Linear Scleroderma|Localized Scleroderma|Morphea|Morpheas|Scleroderma, Circumscribed|Scleroderma, Linear|Sclerodermas, Localized Connective tissue disease|Skin disease Scleroderma, Systemic MESH:D012595 DO:DOID:418 A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA. MESH:D003240|MESH:D012871 C17.300.799|C17.800.784 C17.300|C17.800 Sclerosis, Systemic|Systemic Scleroderma|Systemic Sclerosis Connective tissue disease|Skin disease Scleromyxedema MESH:D053718 A connective tissue disorder characterized by widespread thickening of SKIN with a cobblestone-like appearance. It is caused by proliferation of FIBROBLASTS and deposition of MUCIN in the DERMIS in the absence of thyroid disease. Most scleromyxedema cases are associated with a MONOCLONAL GAMMOPATHY, immunoglobulin IgG-lambda. MESH:D017520 C17.300.550.875 C17.300.550 Lichen Myxedematosus|Mucinosis, Papular|Myxedematosus, Lichen|Papular Mucinosis Connective tissue disease Sclerosing bone dysplasia mental retardation MESH:C537523 MESH:D001847|MESH:D008607|MESH:D012598 C05.116/C537523|C10.597.606.360/C537523|C23.550.823/C537523|C23.888.592.604.646/C537523|F03.625.539/C537523 C05.116|C10.597.606.360|C23.550.823|C23.888.592.604.646|F03.625.539 Mixed sclerosing bone dysplasia and mental retardation Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms SCLEROSING CHOLANGITIS, NEONATAL OMIM:617394 MESH:D007232|MESH:D015209 C06.130.120.200.110/617394|C16.614/617394 C06.130.120.200.110|C16.614 NSC Digestive system disease|Infant-newborn disease Sclerosing lymphocytic lobulitis MESH:C537524 MESH:D001941|MESH:D008218|MESH:D012598 C15.378.553.475.604/C537524|C17.800.090/C537524|C23.550.823/C537524 C15.378.553.475.604|C17.800.090|C23.550.823 Sclerosing lymphocytic lobulitis of the breast Blood disease|Pathology (process)|Skin disease Sclerosis MESH:D012598 A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve. MESH:D010335 C23.550.823 C23.550 Scleroses Pathology (process) Sclerosteosis MESH:C537525 DO:DOID:0060251|OMIM:269500|OMIM:614305 MESH:D013576|MESH:D015576 C05.116.099.370.894.819/C537525|C05.116.540/C537525|C05.660.585.800/C537525|C05.660.906.819/C537525|C16.131.621.585.800/C537525|C16.131.621.906.819/C537525 C05.116.099.370.894.819|C05.116.540|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 Cortical hyperostosis with syndactyly|SCLEROSTEOSIS 1|SCLEROSTEOSIS 2|SOST|SOST1|SOST2 Congenital abnormality|Musculoskeletal disease Sclerotylosis MESH:C537526 OMIM:181600 MESH:D007642|MESH:D012594|MESH:D012878 C04.588.805/C537526|C17.300.787/C537526|C17.800.428/C537526|C17.800.767/C537526|C17.800.882/C537526 C04.588.805|C17.300.787|C17.800.428|C17.800.767|C17.800.882 HRZ|Huriez syndrome|Scleroatrophic and keratotic dermatosis of limbs|SCLEROTYLOSIS Cancer|Connective tissue disease|Skin disease Scoliosis MESH:D012600 DO:DOID:0060249 An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed) MESH:D013121 C05.116.900.800.875 C05.116.900.800 Scolioses Musculoskeletal disease Scoliosis, Arachnodactyly, And Blindness MESH:C567309 MESH:D001766|MESH:D012600|MESH:D054119 C05.116.900.800.875/C567309|C05.660.585.174/C567309|C10.597.751.941.162/C567309|C11.966.075/C567309|C16.131.621.585.174/C567309|C23.888.592.763.941.162/C567309 C05.116.900.800.875|C05.660.585.174|C10.597.751.941.162|C11.966.075|C16.131.621.585.174|C23.888.592.763.941.162 Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1 OMIM:181800 MESH:D012600 C05.116.900.800.875/181800 C05.116.900.800.875 ADOLESCENT IDIOPATHIC SCOLIOSIS|ADOLESCENT ISOLATED SCOLIOSIS|AIS|IS1 Musculoskeletal disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 2 OMIM:607354 MESH:D012600 C05.116.900.800.875/607354 C05.116.900.800.875 IS2 Musculoskeletal disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 OMIM:608765 MESH:D012600 C05.116.900.800.875/608765 C05.116.900.800.875 IS3 Musculoskeletal disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 4 OMIM:612238 MESH:D012600 C05.116.900.800.875/612238 C05.116.900.800.875 IS4 Musculoskeletal disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 5 OMIM:612239 MESH:D012600 C05.116.900.800.875/612239 C05.116.900.800.875 IS5 Musculoskeletal disease Scoptophobia MESH:C000719215 MESH:D000072861 F03.080.725.500/C000719215 F03.080.725.500 Fear of being stared at|Phobia, being stared at Mental disorder Scorpion Stings MESH:D065008 The effects, both local and systemic, caused by the bite of SCORPIONS. MESH:D001733 C25.723.127.142|C26.176.443 C25.723.127|C26.176 Envenomation, Scorpion|Envenoming, Scorpion|Envenomings, Scorpion|Scorpion Envenomation|Scorpion Envenomations|Scorpion Envenoming|Scorpion Envenomings|Scorpionism|Scorpionisms|Scorpion Sting|Sting, Scorpion|Stings, Scorpion Wounds and injuries Scotoma MESH:D012607 A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA); OPTIC NERVE DISEASES, and other conditions. MESH:D014786 C10.597.751.941.811|C11.966.811|C23.888.592.763.941.811 C10.597.751.941|C11.966|C23.888.592.763.941 Altitudinal Scotoma|Altitudinal Scotomas|Arcuate Scotoma|Arcuate Scotomas|Bjerrum Scotoma|Bjerrum Scotomas|Central Scotoma|Central Scotomas|Centrocecal Scotoma|Centrocecal Scotomas|Paracecal Scotoma|Paracecal Scotomas|Paracentral Scotoma|Paracentral Scotomas|Peripheral Scotoma|Peripheral Scotomas|Ring Scotoma|Ring Scotomas|Scintillating Scotoma|Scintillating Scotomas|Scotoma, Altitudinal|Scotoma, Arcuate|Scotoma, Bjerrum|Scotoma, Central|Scotoma, Centrocecal|Scotoma, Paracecal|Scotoma, Paracentral|Scotoma, Peripheral|Scotoma, Ring|Scotomas|Scotomas, Altitudinal|Scotomas, Arcuate|Scotomas, Bjerrum|Scotomas, Central|Scotomas, Centrocecal|Scotoma, Scintillating|Scotoma, Sector|Scotomas, Paracecal|Scotomas, Paracentral|Scotomas, Peripheral|Scotomas, Ring|Scotomas, Scintillating|Scotomas, Sector|Sector Scotoma|Sector Scotomas Eye disease|Nervous system disease|Signs and symptoms Scott Bryant Graham syndrome MESH:C537528 MESH:D000015|MESH:D008607|MESH:D013576 C05.116.099.370.894.819/C537528|C05.660.585.800/C537528|C05.660.906.819/C537528|C10.597.606.360/C537528|C16.131.077/C537528|C16.131.621.585.800/C537528|C16.131.621.906.819/C537528|C23.888.592.604.646/C537528|F03.625.539/C537528 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C10.597.606.360|C16.131.077|C16.131.621.585.800|C16.131.621.906.819|C23.888.592.604.646|F03.625.539 Craniodigital syndrome-mental retardation, Scott type|Craniodigital syndrome with mental retardation|Scott craniodigital syndrome with mental retardation Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Scott Syndrome MESH:C563120 DO:DOID:0111052|OMIM:262890 MESH:D001778 C15.378.100/C563120 C15.378.100 BDPLT7|Bleeding Abnormality due to Deficiency of Platelet Binding of Factor X|BLEEDING DISORDER, PLATELET-TYPE, 7|Prothrombin Consumption Deficiency|Prothrombin Consumption Inhibitor, Familial|Prothrombin Conversion Defect, Familial|SCTS Blood disease Scrapie MESH:D012608 DO:DOID:5434 A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS. MESH:D012757|MESH:D017096 C01.207.800.717|C10.228.228.800.717|C10.574.843.850|C22.836.799 C01.207.800|C10.228.228.800|C10.574.843|C22.836 Rida Animal disease|Nervous system disease Screw Worm Infection MESH:D012610 DO:DOID:12927 Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A. MESH:D009198 C01.610.858.211.503.744 C01.610.858.211.503 Chrysomya bezziana Infection|Chrysomya bezziana Infections|Chrysomya bezziana Infestation|Chrysomya bezziana Infestations|Chrysomya bezziana Myiases|Chrysomya bezziana Myiasis|Cochliomyia hominivorax Infection|Cochliomyia hominivorax Infections|Cochliomyia hominivorax Infestation|Cochliomyia hominivorax Infestations|Cochliomyia hominivorax Myiases|Cochliomyia hominivorax Myiasis|Infection, Chrysomya bezziana|Infection, Cochliomyia hominivorax|Infection, Screw Worm|Infestation, Chrysomya bezziana|Infestation, Cochliomyia hominivorax|Myiases, Chrysomya bezziana|Myiases, Cochliomyia hominivorax|Myiases, Screw Worm|Myiasis, Chrysomya bezziana|Myiasis, Cochliomyia hominivorax|Myiasis, Screw Worm|Screw Worm Infections|Screw Worm Myiases|Screw Worm Myiasis Parasitic disease Scrub Typhus MESH:D012612 DO:DOID:13371 An acute infectious disease caused by ORIENTIA TSUTSUGAMUSHI. It is limited to eastern and southeastern Asia, India, northern Australia, and the adjacent islands. Characteristics include the formation of a primary cutaneous lesion at the site of the bite of an infected mite, fever lasting about two weeks, and a maculopapular rash. MESH:D012288 C01.150.252.400.789.850|C01.920.914.850 C01.150.252.400.789|C01.920.914 Diseases, Tsutsugamushi|Disease, Tsutsugamushi|Fevers, Tsutsugamushi|Fever, Tsutsugamushi|Infection, Orientia tsutsugamushi|Infections, Orientia tsutsugamushi|Orientia tsutsugamushi Infection|Orientia tsutsugamushi Infections|Tsutsugamushi Disease|Tsutsugamushi Diseases|Tsutsugamushi Fever|Tsutsugamushi Fevers|Typhus, Scrub Bacterial infection or mycosis Scurvy MESH:D012614 DO:DOID:13724|OMIM:240400 An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs. MESH:D001206|MESH:D020141 C14.907.454.800|C15.378.463.515.800|C18.654.521.500.133.115.661 C14.907.454|C15.378.463.515|C18.654.521.500.133.115 GULO, NONFUNCTIONAL, INCLUDED|GULOP, INCLUDED|Hypoascorbemia|Hypoascorbemias|L-GULONOLACTONE OXIDASE, NONFUNCTIONAL, INCLUDED|Scorbutus|Scurvies|SCURVY|VITAMIN C, INABILITY TO SYNTHESIZE L-GULONOLACTONE OXIDASE PSEUDOGENE, INCLUDED Blood disease|Cardiovascular disease|Nutrition disorder Sea-Blue Histiocyte Syndrome MESH:D012618 DO:DOID:4423|OMIM:269600 A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining. MESH:D013106|MESH:D015616 C10.228.140.163.100.435.825.775|C15.604.250.410.800|C16.320.565.189.435.825.775|C16.320.565.398.641.803.850|C16.320.565.595.554.825.775|C18.452.132.100.435.825.775|C18.452.584.563.641.803.850|C18.452.648.189.435.825.775|C18.452.648.398.641.803.850|C18.452.648.595.554.825.775 C10.228.140.163.100.435.825|C15.604.250.410|C16.320.565.189.435.825|C16.320.565.398.641.803|C16.320.565.595.554.825|C18.452.132.100.435.825|C18.452.584.563.641.803|C18.452.648.189.435.825|C18.452.648.398.641.803|C18.452.648.595.554.825 Disease, Sea-Blue Histiocyte|Diseases, Sea-Blue Histiocyte|Histiocyte Disease, Sea-Blue|Histiocyte Diseases, Sea-Blue|Histiocyte Syndrome, Sea Blue|Histiocyte Syndrome, Sea-Blue|Histiocyte Syndromes, Sea Blue|Histiocyte Syndromes, Sea-Blue|Histiocytoses, Sea Blue|Histiocytoses, Sea-Blue|Histiocytosis, Sea Blue|Histiocytosis, Sea-Blue|Sea Blue Histiocyte Disease|Sea-Blue Histiocyte Disease|Sea-Blue Histiocyte Diseases|Sea Blue Histiocyte Syndrome|Sea-Blue Histiocyte Syndromes|Sea Blue Histiocytoses|Sea-Blue Histiocytoses|Sea Blue Histiocytosis|Sea-Blue Histiocytosis|Syndrome, Sea-Blue Histiocyte|Syndromes, Sea-Blue Histiocyte Genetic disease (inborn)|Lymphatic disease|Metabolic disease|Nervous system disease Seasonal Affective Disorder MESH:D016574 DO:DOID:0060167 A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. SAD (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (PHOTOTHERAPY), during the season of recurrence. MESH:D003866 F03.600.300.775 F03.600.300 Affective Disorder, Seasonal|Depression, Winter|Disorder, Seasonal Affective|Disorder, Seasonal Mood|Mood Disorder, Seasonal|Seasonal Affective Disorders|Seasonal Mood Disorder|Seasonal Mood Disorders|Winter Depression Mental disorder Seaver Cassidy syndrome MESH:C537529 MESH:D000015|MESH:D006972|MESH:D019465 C05.116.099.370.231.480/C537529|C05.660.207.231.480/C537529|C05.660.207/C537529|C16.131.077/C537529|C16.131.621.207.231.480/C537529|C16.131.621.207/C537529 C05.116.099.370.231.480|C05.660.207|C05.660.207.231.480|C16.131.077|C16.131.621.207|C16.131.621.207.231.480 Congenital abnormality|Musculoskeletal disease Sebaceous Gland Diseases MESH:D012625 Diseases of the sebaceous glands such as sebaceous hyperplasia and sebaceous cell carcinoma (SEBACEOUS GLAND NEOPLASMS). MESH:D012871 C17.800.794 C17.800 Disease, Sebaceous Gland|Diseases, Sebaceous Gland|Gland Disease, Sebaceous|Gland Diseases, Sebaceous|Sebaceous Gland Disease Skin disease Sebaceous gland hyperplasia, familial presenile MESH:C537530 MESH:D005148|MESH:D006965 C17.800.271/C537530|C23.550.444/C537530 C17.800.271|C23.550.444 Pathology (process)|Skin disease Sebaceous Gland Neoplasms MESH:D012626 DO:DOID:5759 New abnormal growth of tissue in the SEBACEOUS GLANDS. MESH:D012625|MESH:D012878 C04.588.805.578|C17.800.794.712|C17.800.882.712 C04.588.805|C17.800.794|C17.800.882 Neoplasm, Sebaceous Gland|Neoplasms, Sebaceous Gland|Sebaceous Gland Neoplasm Cancer|Skin disease Sebaceous Nevus Syndrome and Hemimegalencephaly MESH:C563339 MESH:D054000|MESH:D065705 C04.557.665.560.700/C563339|C05.660.207.536.500/C563339|C10.500.507.400.249.500/C563339|C10.562.700/C563339|C16.131.077.633/C563339|C16.131.621.207.532.500/C563339|C16.131.666.507.400.249.500/C563339 C04.557.665.560.700|C05.660.207.536.500|C10.500.507.400.249.500|C10.562.700|C16.131.077.633|C16.131.621.207.532.500|C16.131.666.507.400.249.500 Cancer|Congenital abnormality|Musculoskeletal disease|Nervous system disease Sebaceous Tumors, Somatic MESH:C563610 MESH:D012626 C04.588.805.578/C563610|C17.800.794.712/C563610|C17.800.882.712/C563610 C04.588.805.578|C17.800.794.712|C17.800.882.712 Cancer|Skin disease Sebocystomatosis MESH:C580471 MESH:D062685 C16.131.831.350.856.500/C580471|C16.320.850.250.856.500/C580471|C17.800.529.594.500/C580471|C17.800.804.350.856.500/C580471|C17.800.827.250.856.500/C580471 C16.131.831.350.856.500|C16.320.850.250.856.500|C17.800.529.594.500|C17.800.804.350.856.500|C17.800.827.250.856.500 Congenital abnormality|Genetic disease (inborn)|Skin disease Seborrhea-Like Dermatitis with Psoriasiform Elements MESH:C565217 OMIM:610227 MESH:D003872 C17.800.174/C565217 C17.800.174 Skin disease Secernentea Infections MESH:D017190 Infections with nematodes of the subclass SECERNENTEA. MESH:D009349 C01.610.335.508.700 C01.610.335.508 Infection, Phasmidia|Infection, Secernentea|Infections, Phasmidia|Infections, Secernentea|Phasmidia Infection|Phasmidia Infections|Secernentea Infection Parasitic disease Seckel like syndrome type Buebel MESH:C537532 MESH:D000015|MESH:D004392|MESH:D019465 C05.116.099.343/C537532|C05.660.207/C537532|C16.131.077/C537532|C16.131.621.207/C537532|C16.320.240/C537532|C19.297/C537532 C05.116.099.343|C05.660.207|C16.131.077|C16.131.621.207|C16.320.240|C19.297 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Seckel syndrome 1 MESH:C537533 DO:DOID:0070007|OMIM:210600 MESH:D004392|MESH:D008831|MESH:D019066 C05.116.099.343/C537533|C05.660.207.620/C537533|C10.500.507.400.500/C537533|C16.131.621.207.620/C537533|C16.131.666.507.400.500/C537533|C16.320.240/C537533|C19.297/C537533|C23.550.291.812/C537533 C05.116.099.343|C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.240|C19.297|C23.550.291.812 Bird-headed dwarfism|Microcephalic primordial dwarfism 1|Microcephalic Primordial Dwarfism I|Nanocephalic dwarfism|SCKL|SCKL1|Seckel-type dwarfism Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process) Seckel syndrome 2 MESH:C537534 DO:DOID:0070013|OMIM:606744 MESH:D004392|MESH:D008831 C05.116.099.343/C537534|C05.660.207.620/C537534|C10.500.507.400.500/C537534|C16.131.621.207.620/C537534|C16.131.666.507.400.500/C537534|C16.320.240/C537534|C19.297/C537534 C05.116.099.343|C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.240|C19.297 Bird-headed dwarfism 2|Microcephalic primordial dwarfism 2|SCKL2|Seckel-type dwarfism 2 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Seckel Syndrome 3 MESH:C563881 MESH:D004392|MESH:D008607|MESH:D008831|MESH:D019066 C05.116.099.343/C563881|C05.660.207.620/C563881|C10.500.507.400.500/C563881|C10.597.606.360/C563881|C16.131.621.207.620/C563881|C16.131.666.507.400.500/C563881|C16.320.240/C563881|C19.297/C563881|C23.550.291.812/C563881|C23.888.592.604.646/C563881|F03.625.539/C563881 C05.116.099.343|C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.240|C19.297|C23.550.291.812|C23.888.592.604.646|F03.625.539 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms SECKEL SYNDROME 4 OMIM:613676 DO:DOID:0070010 MESH:D004392|MESH:D005317|MESH:D008607|MESH:D008831 C05.116.099.343/613676|C05.660.207.620/613676|C10.500.507.400.500/613676|C10.597.606.360/613676|C12.050.703.277.370/613676|C16.131.621.207.620/613676|C16.131.666.507.400.500/613676|C16.300.390/613676|C16.320.240/613676|C19.297/613676|C23.550.393.450/613676|C23.888.592.604.646/613676|F03.625.539/613676 C05.116.099.343|C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C12.050.703.277.370|C16.131.621.207.620|C16.131.666.507.400.500|C16.300.390|C16.320.240|C19.297|C23.550.393.450|C23.888.592.604.646|F03.625.539 SCKL4 Congenital abnormality|Endocrine system disease|Fetal disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Pregnancy complication|Signs and symptoms Second Metatarsal-Metacarpal Syndrome MESH:C564824 MESH:D005532|MESH:D006228 C05.330.495/C564824|C05.390.408/C564824|C05.660.585.512.380/C564824|C05.660.585.988.425/C564824|C16.131.621.585.512.500/C564824|C16.131.621.585.988.500/C564824 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500 Congenital abnormality|Musculoskeletal disease Secretory breast carcinoma MESH:C537535 DO:DOID:4922 MESH:D001943|MESH:D002277 C04.557.470.200/C537535|C04.588.180/C537535|C17.800.090.500/C537535 C04.557.470.200|C04.588.180|C17.800.090.500 Cancer|Skin disease Secretory Component Deficiency MESH:C562869 MESH:D017098 C15.378.147.333.500/C562869|C20.673.430.500/C562869 C15.378.147.333.500|C20.673.430.500 Iga Deficiency, Secretory Blood disease|Immune system disease Secretory Diarrhea, Myopathy, and Deafness MESH:C564382 MESH:D003638|MESH:D003967|MESH:D005183|MESH:D008831|MESH:D009135 C05.651/C564382|C05.660.207.620/C564382|C09.218.458.341.186/C564382|C10.500.507.400.500/C564382|C10.597.751.418.341.186/C564382|C10.668.491/C564382|C16.131.621.207.620/C564382|C16.131.666.507.400.500/C564382|C23.888.338/C564382|C23.888.592.763.393.341.186/C564382|C23.888.821.214/C564382 C05.651|C05.660.207.620|C09.218.458.341.186|C10.500.507.400.500|C10.597.751.418.341.186|C10.668.491|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.338|C23.888.592.763.393.341.186|C23.888.821.214 Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Seemanova Lesny syndrome MESH:C537536 MESH:D000015|MESH:D002386|MESH:D006130|MESH:D007006|MESH:D008607|MESH:D008831|MESH:D009128 C05.651.512/C537536|C05.660.207.620/C537536|C10.500.507.400.500/C537536|C10.597.606.360/C537536|C10.597.613.550.550/C537536|C11.510.245/C537536|C16.131.077/C537536|C16.131.621.207.620/C537536|C16.131.666.507.400.500/C537536|C19.391.482/C537536|C23.550.393/C537536|C23.888.592.604.646/C537536|C23.888.592.608.550.550/C537536|F03.625.539/C537536 C05.651.512|C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C10.597.613.550.550|C11.510.245|C16.131.077|C16.131.621.207.620|C16.131.666.507.400.500|C19.391.482|C23.550.393|C23.888.592.604.646|C23.888.592.608.550.550|F03.625.539 Microcephaly microcornea syndrome Seemanova type Congenital abnormality|Endocrine system disease|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Segawa syndrome, autosomal recessive MESH:C537537 OMIM:605407 MESH:D020821 C10.228.662.300/C537537 C10.228.662.300 Autosomal Recessive Infantile Parkinsonism|Dopa-Responsive Dystonia, Autosomal Recessive|DOPA responsive dystonia, autosomal recessive|Dystonia, Dopa-Responsive, Autosomal Recessive|Dystonia, DOPA responsive, autosomal recessive|Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive|Parkinsonism, infantile, autosomal recessive|Th-Deficient Drd|Tyrosine Hydroxylase Deficiency Nervous system disease Segmental glomerulosclerosis MESH:C538457 MESH:D005923 C12.050.351.968.419.570.363.640/C538457|C12.200.777.419.570.363.660/C538457|C12.950.419.570.363.640/C538457 C12.050.351.968.419.570.363.640|C12.200.777.419.570.363.660|C12.950.419.570.363.640 Focal sclerosis with hyalinosis|Focal segmental glomerulosclerosis 1|FSGS1|Glomerulosclerosis, Focal Segmental, 1 Urogenital disease (female)|Urogenital disease (male) Segmentation syndrome 1 MESH:C537538 MESH:D007714 C05.116.099.370.535/C537538|C05.660.551/C537538|C16.131.621.551/C537538 C05.116.099.370.535|C05.660.551|C16.131.621.551 Klippel-Feil syndrome with laryngeal malformation Congenital abnormality|Musculoskeletal disease Seizures MESH:D012640 DO:DOID:11832 Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or 'seizure disorder.' MESH:D009461 C10.597.742|C23.888.592.742 C10.597|C23.888.592 Absence Seizure|Absence Seizure, Atonic|Absence Seizure, Generalized|Absence Seizures|Absence Seizures, Atonic|Absence Seizures, Generalized|Atonic Absence Seizure|Atonic Absence Seizures|Atonic Seizure|Atonic Seizures|Auditory Seizure|Auditory Seizures|Clonic Seizure|Clonic Seizures|Clonic Seizures, Tonic|Clonic Seizure, Tonic|Complex Partial Seizure|Complex Partial Seizures|Convulsion|Convulsion, Non Epileptic|Convulsion, Non-Epileptic|Convulsion, Petit Mal|Convulsions|Convulsions, Non-Epileptic|Convulsive Seizure|Convulsive Seizures|Epileptic Seizure|Epileptic Seizures|Focal Seizure|Focal Seizures|Generalized Absence Seizure|Generalized Absence Seizures|Generalized Seizure|Generalized Seizures|Generalized Tonic-Clonic Seizure|Generalized Tonic Clonic Seizures|Generalized Tonic-Clonic Seizures|Gustatory Seizure|Gustatory Seizures|Jacksonian Seizure|Motor Seizure|Motor Seizures|Myoclonic Seizure|Myoclonic Seizures|Non-Epileptic Convulsion|Non-Epileptic Convulsions|Nonepileptic Seizure|Non Epileptic Seizure|Non-Epileptic Seizure|Nonepileptic Seizures|Non Epileptic Seizures|Non-Epileptic Seizures|Olfactory Seizure|Olfactory Seizures|Partial Seizure|Partial Seizure, Complex|Partial Seizures|Partial Seizures, Complex|Petit Mal Convulsion|Seizure|Seizure, Absence|Seizure, Atonic|Seizure, Atonic Absence|Seizure, Auditory|Seizure, Clonic|Seizure, Complex Partial|Seizure, Convulsive|Seizure, Epileptic|Seizure, Focal|Seizure, Generalized|Seizure, Generalized Absence|Seizure, Generalized Tonic-Clonic|Seizure, Gustatory|Seizure, Jacksonian|Seizure, Motor|Seizure, Myoclonic|Seizure, Nonepileptic|Seizure, Non-Epileptic|Seizure, Olfactory|Seizure, Partial|Seizures, Auditory|Seizures, Clonic|Seizures, Convulsive|Seizure, Sensory|Seizures, Epileptic|Seizures, Focal|Seizures, Generalized|Seizures, Generalized Tonic-Clonic|Seizures, Gustatory|Seizure, Single|Seizures, Motor|Seizures, Nonepileptic|Seizures, Olfactory|Seizure, Somatosensory|Seizures, Sensory|Seizures, Somatosensory|Seizures, Tonic|Seizures, Tonic-Clonic|Seizures, Vertiginous|Seizures, Vestibular|Seizures, Visual|Seizure, Tonic|Seizure, Tonic Clonic|Seizure, Tonic-Clonic|Seizure, Vertiginous|Seizure, Vestibular|Seizure, Visual|Sensory Seizure|Sensory Seizures|Single Seizure|Single Seizures|Somatosensory Seizure|Somatosensory Seizures|Tonic Clonic Seizure|Tonic-Clonic Seizure|Tonic-Clonic Seizure, Generalized|Tonic Clonic Seizures|Tonic-Clonic Seizures|Tonic-Clonic Seizures, Generalized|Tonic Seizure|Tonic Seizures|Vertiginous Seizure|Vertiginous Seizures|Vestibular Seizure|Vestibular Seizures|Visual Seizure|Visual Seizures Nervous system disease|Signs and symptoms SEIZURES, BENIGN FAMILIAL INFANTILE, 2 OMIM:605751 DO:DOID:0081115 MESH:D020936 C10.228.140.490.370/605751|C16.614.258/605751 C10.228.140.490.370|C16.614.258 BFIC2|BFIS2|CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 Infant-newborn disease|Nervous system disease SEIZURES, BENIGN FAMILIAL INFANTILE, 5 OMIM:617080 DO:DOID:0081118 MESH:D020936 C10.228.140.490.370/617080|C16.614.258/617080 C10.228.140.490.370|C16.614.258 BFIC5|BFIS5|CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 Infant-newborn disease|Nervous system disease SEIZURES, BENIGN FAMILIAL NEONATAL, 1 OMIM:121200 DO:DOID:14264 MESH:D020936 C10.228.140.490.370/121200|C16.614.258/121200 C10.228.140.490.370|C16.614.258 BFNS1|EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED|SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED Infant-newborn disease|Nervous system disease SEIZURES, BENIGN FAMILIAL NEONATAL, 2 OMIM:121201 DO:DOID:14264 MESH:D020936 C10.228.140.490.370/121201|C16.614.258/121201 C10.228.140.490.370|C16.614.258 BFNC2|BFNS2|CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2 Infant-newborn disease|Nervous system disease SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME OMIM:616632 MESH:D008831|MESH:D012640|MESH:D019575 C05.660.207.620/616632|C10.500.507.400.500/616632|C10.597.742/616632|C10.597.751.941.162.250/616632|C11.966.075.250/616632|C16.131.621.207.620/616632|C16.131.666.507.400.500/616632|C23.888.592.742/616632|C23.888.592.763.941.162.250/616632 C05.660.207.620|C10.500.507.400.500|C10.597.742|C10.597.751.941.162.250|C11.966.075.250|C16.131.621.207.620|C16.131.666.507.400.500|C23.888.592.742|C23.888.592.763.941.162.250 SCBMS Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Seizures, Febrile MESH:D003294 Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784) MESH:D012640 C10.597.742.571|C23.888.592.742.571 C10.597.742|C23.888.592.742 Convulsion, Febrile|Convulsion, Fever|Convulsion, Pyrexial|Convulsions, Febrile|Convulsions, Fever|Convulsions, Pyrexial|Febrile Convulsion|Febrile Convulsions|Febrile Convulsion Seizure|Febrile Convulsion Seizures|Febrile Fit|Febrile Fits|Febrile Seizure|Febrile Seizures|Fever Convulsion|Fever Convulsions|Fever Seizure|Fever Seizures|Fit, Febrile|Fits, Febrile|Pyrexial Convulsion|Pyrexial Convulsions|Pyrexial Seizure|Pyrexial Seizures|Seizure, Febrile|Seizure, Febrile, Complex|Seizure, Febrile Convulsion|Seizure, Febrile, Simple|Seizure, Fever|Seizure, Pyrexial|Seizures, Febrile Convulsion|Seizures, Fever|Seizures, Pyrexial Nervous system disease|Signs and symptoms Selenophobia MESH:C000719216 MESH:D010698 F03.080.725/C000719216 F03.080.725 Fear of the moon|Phobia, moon Mental disorder Self-Healing Collodion Baby MESH:C565473 MESH:D017490 C16.131.831.512.400.410/C565473|C16.320.850.400.410/C565473|C16.614.492.400.410/C565473|C17.800.428.333.250.410/C565473|C17.800.804.512.400.410/C565473|C17.800.827.400.410/C565473 C16.131.831.512.400.410|C16.320.850.400.410|C16.614.492.400.410|C17.800.428.333.250.410|C17.800.804.512.400.410|C17.800.827.400.410 Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease Self Mutilation MESH:D012652 The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body. MESH:D014947 C26.780 C26 Autotomy Human|Autotomy Humans|Behavior, Self Mutilating|Mutilating Behavior, Self|Mutilation, Self|Self Mutilating Behavior|Self Mutilating Behaviors Wounds and injuries Selig Benacerraf Greene syndrome MESH:C535840 MESH:D004480|MESH:D007674|MESH:D014524 C05.660.585.350/C535840|C12.050.351.968.419/C535840|C12.050.351.968.767.700/C535840|C12.200.777.419/C535840|C12.200.777.767.700/C535840|C12.950.419/C535840|C12.950.767.700/C535840|C16.131.621.585.350/C535840 C05.660.585.350|C12.050.351.968.419|C12.050.351.968.767.700|C12.200.777.419|C12.200.777.767.700|C12.950.419|C12.950.767.700|C16.131.621.585.350 Renal dysplasia, megalocystis, and sirenomelia Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Sella Turcica, Bridged MESH:C566689 MESH:D010900 C10.228.140.617.738/C566689|C19.700/C566689 C10.228.140.617.738|C19.700 Endocrine system disease|Nervous system disease Semicircular Canal Dehiscence MESH:D000084322 A vestibular disorder caused by a pathologic third window into the BONY LABYRINTH (in contrast to the normal ROUND WINDOW OF EAR and the OVAL WINDOW OF EAR). It can present with autophony, sound- or pressure-induced VERTIGO, and chronic disequilibrium among other vestibulocochlear symptoms.(From: Semin Neurol. 2020 Jan 27; 48: 58-65.) MESH:D015837 C09.218.568.900.663 C09.218.568.900 Dehiscence of the Lateral Semicircular Canal|Dehiscence of the Posterior Semicircular Canal|Dehiscence of the Semicircular Canal|Dehiscence of the Superior Semicircular Canal|Lateral Canal Dehiscence Syndrome|Lateral Semicircular Canal Dehiscence|Lateral Semicircular Canal Dehiscence Syndrome|Posterior Canal Dehiscence Syndrome|Posterior Semicircular Canal Dehiscence|Posterior Semicircular Canal Dehiscence Syndrome|Semicircular Canal Dehiscence Syndrome|Superior Canal Dehiscence Syndrome|Superior Semicircular Canal Dehiscence|Superior Semicircular Canal Dehiscence Syndrome Ear-nose-throat disease Seminoma MESH:D018239 DO:DOID:4440|DO:DOID:5842 A radiosensitive, malignant neoplasm of the testis, thought to be derived from primordial germ cells of the sexually undifferentiated embryonic gonad. There are three variants: classical (typical), the most common type; anaplastic; and spermatocytic. The classical seminoma is composed of fairly well differentiated sheets or cords of uniform polygonal or round cells (seminoma cells), each cell having abundant clear cytoplasm, distinct cell membranes, a centrally placed round nucleus, and one or more nucleoli. In the female, a grossly and histologically identical neoplasm, known as dysgerminoma, occurs. (Dorland, 27th ed) MESH:D018237 C04.557.465.330.800 C04.557.465.330 Seminomas Cancer Sener syndrome MESH:C537579 MESH:D001927|MESH:D003560|MESH:D004476|MESH:D019465 C04.182/C537579|C05.660.207/C537579|C10.228.140/C537579|C16.131.077.350/C537579|C16.131.621.207/C537579|C16.131.831.350/C537579|C16.320.850.250/C537579|C17.800.804.350/C537579|C17.800.827.250/C537579|C23.300.306/C537579 C04.182|C05.660.207|C10.228.140|C16.131.077.350|C16.131.621.207|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.300.306 Frontonasal dysplasia and dilated virchow-robin spaces Cancer|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Skin disease Senior Loken Syndrome MESH:C537580 DO:DOID:0050576|OMIM:266900 MESH:D000072661|MESH:D015418|MESH:D052177|MESH:D057130 C10.292.700.225.500/C537580|C10.574.500.662/C537580|C11.270.516/C537580|C11.270.564/C537580|C11.640.451.451/C537580|C11.768.364/C537580|C12.050.351.968.419.403/C537580|C12.200.777.419.403/C537580|C12.950.419.403/C537580|C16.131.077.245/C537580|C16.320.184/C537580|C16.320.290.564/C537580|C16.320.400.630/C537580 C10.292.700.225.500|C10.574.500.662|C11.270.516|C11.270.564|C11.640.451.451|C11.768.364|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.077.245|C16.320.184|C16.320.290.564|C16.320.400.630 Juvenile nephronophthisis with Leber amaurosis|Loken-Senior Syndrome|Renal Dysplasia And Retinal Aplasia|Renal dysplasia retinal aplasia|Renal-retinal syndrome|Senior-Loken Syndrome|Senior-Løken Syndrome|Senior-Loken Syndrome 1|SLSN1 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Senior-Loken Syndrome 3 MESH:C564637 OMIM:606995 MESH:D000072661|MESH:D015418|MESH:D052177|MESH:D057130 C10.292.700.225.500/C564637|C10.574.500.662/C564637|C11.270.516/C564637|C11.270.564/C564637|C11.640.451.451/C564637|C11.768.364/C564637|C12.050.351.968.419.403/C564637|C12.200.777.419.403/C564637|C12.950.419.403/C564637|C16.131.077.245/C564637|C16.320.184/C564637|C16.320.290.564/C564637|C16.320.400.630/C564637 C10.292.700.225.500|C10.574.500.662|C11.270.516|C11.270.564|C11.640.451.451|C11.768.364|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.077.245|C16.320.184|C16.320.290.564|C16.320.400.630 SLSN3 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Senior-Loken syndrome 4 MESH:C537581 OMIM:606996 MESH:D000072661|MESH:D012174|MESH:D052177 C11.270.684/C537581|C11.768.585.658.500/C537581|C12.050.351.968.419.403/C537581|C12.200.777.419.403/C537581|C12.950.419.403/C537581|C16.131.077.245/C537581|C16.320.184/C537581|C16.320.290.684/C537581 C11.270.684|C11.768.585.658.500|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.077.245|C16.320.184|C16.320.290.684 SLSN4 Congenital abnormality|Eye disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Senior-Loken Syndrome 5 MESH:C563763 OMIM:609254 MESH:D000072661|MESH:D015418|MESH:D052177|MESH:D057130 C10.292.700.225.500/C563763|C10.574.500.662/C563763|C11.270.516/C563763|C11.270.564/C563763|C11.640.451.451/C563763|C11.768.364/C563763|C12.050.351.968.419.403/C563763|C12.200.777.419.403/C563763|C12.950.419.403/C563763|C16.131.077.245/C563763|C16.320.184/C563763|C16.320.290.564/C563763|C16.320.400.630/C563763 C10.292.700.225.500|C10.574.500.662|C11.270.516|C11.270.564|C11.640.451.451|C11.768.364|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.077.245|C16.320.184|C16.320.290.564|C16.320.400.630 SLSN5 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Senior-Loken Syndrome 6 MESH:C565708 OMIM:610189 MESH:D000072661|MESH:D015418|MESH:D052177|MESH:D057130 C10.292.700.225.500/C565708|C10.574.500.662/C565708|C11.270.516/C565708|C11.270.564/C565708|C11.640.451.451/C565708|C11.768.364/C565708|C12.050.351.968.419.403/C565708|C12.200.777.419.403/C565708|C12.950.419.403/C565708|C16.131.077.245/C565708|C16.320.184/C565708|C16.320.290.564/C565708|C16.320.400.630/C565708 C10.292.700.225.500|C10.574.500.662|C11.270.516|C11.270.564|C11.640.451.451|C11.768.364|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.077.245|C16.320.184|C16.320.290.564|C16.320.400.630 SLSN6 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Sennetsu Fever MESH:C537582 DO:DOID:0050485 MESH:D016873 C01.150.252.400.054.750/C537582|C01.920.930.300/C537582 C01.150.252.400.054.750|C01.920.930.300 Human Ehrlichial infection, Sennetsu type Bacterial infection or mycosis Sensation Disorders MESH:D012678 Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM). MESH:D009461 C10.597.751|C23.888.592.763 C10.597|C23.888.592 Sensation Disorder|Senses Disorder, Special|Senses Disorders, Special|Sensory Disorder|Sensory Disorders|Special Senses Disorder|Special Senses Disorders Nervous system disease|Signs and symptoms Sensorimotor neuropathy with ataxia, autosomal dominant MESH:C537197 OMIM:607458 MESH:D013132 C10.228.140.252.700/C537197|C10.228.854.787/C537197|C10.574.500.825/C537197|C16.320.400.780/C537197 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 SCA18|SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT|SMNA|Spinocerebellar ataxia 18 Genetic disease (inborn)|Nervous system disease Sensorineural Deafness With Mild Renal Dysfunction MESH:C567544 MESH:D001477|MESH:D006319 C09.218.458.341.887/C567544|C10.597.751.418.341.887/C567544|C12.050.351.968.419.815.279/C567544|C12.200.777.419.815.279/C567544|C12.950.419.815.279/C567544|C19.053.800.604.249/C567544|C23.888.592.763.393.341.887/C567544 C09.218.458.341.887|C10.597.751.418.341.887|C12.050.351.968.419.815.279|C12.200.777.419.815.279|C12.950.419.815.279|C19.053.800.604.249|C23.888.592.763.393.341.887 Ear-nose-throat disease|Endocrine system disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth MESH:C566560 MESH:D006319|MESH:D014075 C07.793.735/C566560|C09.218.458.341.887/C566560|C10.597.751.418.341.887/C566560|C23.888.592.763.393.341.887/C566560 C07.793.735|C09.218.458.341.887|C10.597.751.418.341.887|C23.888.592.763.393.341.887 Ear-nose-throat disease|Mouth disease|Nervous system disease|Signs and symptoms Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MESH:C537583 DO:DOID:0111276|OMIM:607459 MESH:D004401|MESH:D009886|MESH:D015417 C10.292.562.750/C537583|C10.500.300/C537583|C10.574.500.495/C537583|C10.597.606.150.500.800.150.200/C537583|C10.597.622.447/C537583|C10.668.829.800.300/C537583|C11.590.472/C537583|C16.131.666.300/C537583|C16.320.400.375/C537583|C23.888.592.604.150.500.800.150.200/C537583|C23.888.592.636.447/C537583 C10.292.562.750|C10.500.300|C10.574.500.495|C10.597.606.150.500.800.150.200|C10.597.622.447|C10.668.829.800.300|C11.590.472|C16.131.666.300|C16.320.400.375|C23.888.592.604.150.500.800.150.200|C23.888.592.636.447 EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY, INCLUDED;EPM5, FORMERLY, INCLUDED|EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY, INCLUDED|SANDO|SCAE, INCLUDED|SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Seow Najjar syndrome MESH:C537584 MESH:D000015|MESH:D002386|MESH:D003744 C07.650.800.295.625/C537584|C07.793.700.295.625/C537584|C11.510.245/C537584|C16.131.077/C537584|C16.131.850.800.295.625/C537584 C07.650.800.295.625|C07.793.700.295.625|C11.510.245|C16.131.077|C16.131.850.800.295.625 Enamel hypoplasia, capsular cataracts, and ductal stenosis Congenital abnormality|Eye disease|Mouth disease Sepsis MESH:D018805 Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK. MESH:D007239|MESH:D018746 C01.757|C23.550.470.790.500 C01|C23.550.470.790 Blood Poisoning|Blood Poisonings|Bloodstream Infection|Bloodstream Infections|Infection, Bloodstream|Poisoning, Blood|Poisonings, Blood|Pyaemia|Pyaemias|Pyemia|Pyemias|Pyohemia|Pyohemias|Sepsis, Severe|Septicemia|Septicemias|Severe Sepsis Pathology (process) Sepsis-Associated Encephalopathy MESH:D065166 Acute neurological dysfunction during severe SEPSIS in the absence of direct brain infection characterized by systemic inflammation and BLOOD BRAIN BARRIER perturbation. MESH:D001927 C10.228.140.807 C10.228.140 Associated Delirium, Sepsis|Associated Deliriums, Sepsis|Associated Encephalopathies, Sepsis|Associated Encephalopathy, Sepsis|Delirium, Sepsis Associated|Delirium, Sepsis-Associated|Deliriums, Sepsis Associated|Deliriums, Sepsis-Associated|Encephalopathies, Sepsis Associated|Encephalopathies, Sepsis-Associated|Encephalopathy, Sepsis Associated|Encephalopathy, Sepsis-Associated|Sepsis Associated Delirium|Sepsis-Associated Delirium|Sepsis Associated Deliriums|Sepsis-Associated Deliriums|Sepsis Associated Encephalopathies|Sepsis-Associated Encephalopathies|Sepsis Associated Encephalopathy Nervous system disease Septate Uterus MESH:D000093665 A congenital duplication of the UTERUS in which a septum is formed separating the uterus. The partitioning septum can also separate the CERVIX and VAGINA. MESH:D000093662 C12.050.351.500.852.667.375 C12.050.351.500.852.667 Complete Septate Uteri|Complete Septate Uterus|Incomplete Septate Uterus|Septate Uteri, Complete|Septate Uterus and Vagina|Septate Uterus, Complete|Septate Uterus, Incomplete|Septum, Uterine|Subseptate Uteri|Subseptate Uterus|Uterine Septum|Uterine Septums|Uterus, Septate|Uterus, Subseptate Urogenital disease (female) Septo-Optic Dysplasia MESH:D025962 DO:DOID:0060857 A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM; CORPUS CALLOSUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the HYPOTHALAMUS and other diencephalic structures, and HYPOPITUITARISM. MESH:D000080344|MESH:D000093922|MESH:D061085 C10.292.562.700.375.875|C10.500.034.937|C10.500.760.500|C11.590.436.400.875|C16.131.666.034.937|C16.131.666.763.500 C10.292.562.700.375|C10.500.034|C10.500.760|C11.590.436.400|C16.131.666.034|C16.131.666.763 De Morsier Syndrome|Dysplasia, Septooptic|Septooptic Dysplasia|Septooptic Dysplasias|Septo Optic Dysplasia with Growth Hormone Deficiency|Septo-Optic Dysplasia with Growth Hormone Deficiency Congenital abnormality|Eye disease|Nervous system disease Seres-Santamaria Arimany Muniz syndrome MESH:C537585 MESH:D002972|MESH:D004476 C05.500.460.185/C537585|C05.660.207.540.460.185/C537585|C07.320.440.185/C537585|C07.465.525.185/C537585|C07.650.500.460.185/C537585|C07.650.525.185/C537585|C16.131.077.350/C537585|C16.131.621.207.540.460.185/C537585|C16.131.831.350/C537585|C16.131.850.500.460.185/C537585|C16.131.850.525.185/C537585|C16.320.850.250/C537585|C17.800.804.350/C537585|C17.800.827.250/C537585 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C16.131.077.350|C16.131.621.207.540.460.185|C16.131.831.350|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.850.250|C17.800.804.350|C17.800.827.250 Cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Seroma MESH:D049291 Tumor-like sterile accumulation of serum in a tissue, organ, or cavity. It results from a tissue insult and is the product of tissue inflammation. It most commonly occurs following MASTECTOMY. MESH:D007249 C23.550.470.640 C23.550.470 Seromas Pathology (process) Serositis MESH:D012700 Inflammation of a serous membrane. MESH:D007249 C23.550.470.646 C23.550.470 Serositides Pathology (process) Serotonin Syndrome MESH:D020230 An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor. MESH:D064420 C25.100.875 C25.100 Serotonin Syndromes|Syndrome, Serotonin|Syndromes, Serotonin Serpentine fibula polycystic kidney syndrome MESH:C537586 MESH:D031845 C05.116.099.052.400/C537586|C05.116.264.579.052.400/C537586|C16.131.621.445/C537586|C16.320.355/C537586 C05.116.099.052.400|C05.116.264.579.052.400|C16.131.621.445|C16.320.355 Serpentine Fibula-Polycystic Kidney Syndrome|Serpentine fibula syndrome Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Serratia Infections MESH:D016868 Infections with bacteria of the genus SERRATIA. MESH:D004756 C01.150.252.400.310.850 C01.150.252.400.310 Infection, Serratia|Infections, Serratia|Serratia Infection Bacterial infection or mycosis Sertoli Cell-Only Syndrome MESH:D054331 DO:DOID:0050457|OMIM:305700 A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement. MESH:D007248 C12.100.500.430.754|C12.100.750.700.754|C12.200.294.430.754 C12.100.500.430|C12.100.750.700|C12.200.294.430 Del Castillo Syndrome|Germinal Cell Aplasia|Sertoli Cell Only Syndrome|SERTOLI CELL-ONLY SYNDROME|SPERMATOGENIC FAILURE, X-LINKED, 1|SPGFX1 Urogenital disease (male) Sertoli Cell-Only Syndrome, Type II MESH:C564032 MESH:D054331 C12.100.500.430.754/C564032|C12.100.750.700.754/C564032|C12.200.294.430.754/C564032 C12.100.500.430.754|C12.100.750.700.754|C12.200.294.430.754 Urogenital disease (male) Sertoli cell-only syndrome, Y-linked MESH:C537587 OMIM:400042 MESH:D050174|MESH:D054331 C12.100.500.430.754/C537587|C12.100.750.700.754/C537587|C12.200.294.430.754/C537587|C16.320.338/C537587 C12.100.500.430.754|C12.100.750.700.754|C12.200.294.430.754|C16.320.338 HYPOSPERMATOGENESIS, INCLUDED|INCOMPLETE SERTOLI CELL-ONLY SYNDROME, INCLUDED|Sertoli cell-only syndrome, type 1|Sertoli Cell-Only Syndrome, Type I|SERTOLI CELL-ONLY SYNDROME, TYPE I SERTOLI CELL-ONLY SYNDROME, TYPE II, INCLUDED|SERTOLI CELL-ONLY SYNDROME, Y-LINKED|SPERMATOGENIC FAILURE, Y-LINKED, 1|SPGFY1 Genetic disease (inborn)|Urogenital disease (male) Sertoli Cell Tumor MESH:D012707 DO:DOID:3577 Gonadal neoplasm composed entirely of SERTOLI CELLS or may have a component of GRANULOSA CELLS. Some of the Sertoli cell tumors produce ESTROGEN or ANDROGENS, but seldom in sufficient quantity to cause clinical symptoms such as FEMINIZATION or masculinization (VIRILISM). MESH:D018310 C04.557.475.750.847.500|C04.588.322.762.500.500|C04.588.945.440.915.500.500|C12.100.500.260.937.500.500|C12.200.294.260.937.500.500|C12.200.758.409.937.500.500|C12.900.619.937.500.500|C19.344.762.500.500|C19.391.829.782.500.500 C04.557.475.750.847|C04.588.322.762.500|C04.588.945.440.915.500|C12.100.500.260.937.500|C12.200.294.260.937.500|C12.200.758.409.937.500|C12.900.619.937.500|C19.344.762.500|C19.391.829.782.500 Tumor, Sertoli Cell Cancer|Endocrine system disease|Urogenital disease (male) Sertoli-Leydig Cell Tumor MESH:D018310 DO:DOID:2997 A sex cord-gonadal stromal tumor consists of LEYDIG CELLS; SERTOLI CELLS; and FIBROBLASTS in varying proportions and degree of differentiation. Most such tumors produce ANDROGENS in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the TESTIS or the OVARY causing precocious masculinization in the males, and defeminization, or virilization (VIRILISM) in the females. In some cases, the Sertoli cells produce ESTROGENS. MESH:D010051|MESH:D013736|MESH:D018312 C04.557.475.750.847|C04.588.322.455.648|C04.588.322.762.500|C04.588.945.440.915.500|C12.050.351.500.056.630.705.648|C12.050.351.937.418.685.648|C12.100.250.056.630.705.648|C12.100.500.260.937.500|C12.200.294.260.937.500|C12.200.758.409.937.500|C12.900.418.685.648|C12.900.619.937.500|C19.344.410.648|C19.344.762.500|C19.391.630.705.648|C19.391.829.782.500 C04.557.475.750|C04.588.322.455|C04.588.322.762|C04.588.945.440.915|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.100.500.260.937|C12.200.294.260.937|C12.200.758.409.937|C12.900.418.685|C12.900.619.937|C19.344.410|C19.344.762|C19.391.630.705|C19.391.829.782 Androblastoma|Androblastomas|Arrhenoblastoma|Arrhenoblastomas|Cell Tumor, Sertoli-Leydig|Cell Tumors, Sertoli-Leydig|Sertoli Leydig Cell Tumor|Sertoli Leydig Cell Tumors|Sertoli-Leydig Cell Tumors|Tumor, Sertoli-Leydig Cell|Tumors, Sertoli-Leydig Cell Cancer|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Serum Sickness MESH:D012713 Immune complex disease caused by the administration of foreign serum or serum proteins and characterized by fever, lymphadenopathy, arthralgia, and urticaria. When they are complexed to protein carriers, some drugs can also cause serum sickness when they act as haptens inducing antibody responses. MESH:D003875 C17.800.174.600.800|C25.100.468.380.800 C17.800.174.600|C25.100.468.380 Serum Sicknesses|Sicknesses, Serum|Sickness, Serum Skin disease SeSAME syndrome MESH:C557674 DO:DOID:0060484|OMIM:612780 MESH:D006319|MESH:D008607|MESH:D012640 C09.218.458.341.887/C557674|C10.597.606.360/C557674|C10.597.742/C557674|C10.597.751.418.341.887/C557674|C23.888.592.604.646/C557674|C23.888.592.742/C557674|C23.888.592.763.393.341.887/C557674|F03.625.539/C557674 C09.218.458.341.887|C10.597.606.360|C10.597.742|C10.597.751.418.341.887|C23.888.592.604.646|C23.888.592.742|C23.888.592.763.393.341.887|F03.625.539 EAST syndrome|Epilepsy, ataxia, sensorineural deafness and tubulopathy|Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy|SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ELECTROLYTE IMBALANCE|Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance|Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance|SESAMES|SESAME SYNDROME Ear-nose-throat disease|Mental disorder|Nervous system disease|Signs and symptoms Setariasis MESH:D012719 DO:DOID:1079 Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness. MESH:D005368|MESH:D006374 C01.610.335.349.820|C01.610.335.508.700.750.361.852|C01.610.701.377.820|C22.674.377.820 C01.610.335.349|C01.610.335.508.700.750.361|C01.610.701.377|C22.674.377 Setariases Animal disease|Parasitic disease Setting-Sun Phenomenon, Familial Benign MESH:C563470 MESH:D015835 C10.228.758/C563470|C10.292.562/C563470|C11.590/C563470 C10.228.758|C10.292.562|C11.590 Eye disease|Nervous system disease Severe Acute Malnutrition MESH:D000067011 Acute form of MALNUTRITION which usually affects children, characterized by a very low weight for height (below -3z scores of the median World Health Organization standards), visible severe wasting, or occurrence of nutritional EDEMA. It can be a direct or indirect cause of fatality in children suffering from DIARRHEA and PNEUMONIA. Do not confuse with starvation, a condition in which the body is not getting enough food, usually for extended periods of time. MESH:D044342 C18.654.521.719 C18.654.521 Acute Malnutrition, Severe|Malnutrition, Severe Acute Nutrition disorder Severe Acute Respiratory Syndrome MESH:D045169 DO:DOID:2945 A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent. MESH:D012141|MESH:D018352 C01.748.730|C01.925.782.600.550.200.750|C08.730.730 C01.748|C01.925.782.600.550.200|C08.730 Respiratory Syndrome, Acute, Severe|Respiratory Syndrome, Severe Acute|SARS (Severe Acute Respiratory Syndrome) Respiratory tract disease|Viral disease Severe Combined Immunodeficiency MESH:D016511 DO:DOID:5812|DO:DOID:627 Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID). MESH:D000081207|MESH:D007232|MESH:D049914 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 C16.320.798|C16.614|C18.452.284|C20.673.795 Bare Lymphocyte Syndrome|Bare Lymphocyte Syndromes|Combined Immunodeficiencies, Severe|Combined Immunodeficiency, Severe|Familial Reticuloendothelioses|Familial Reticuloendotheliosis|Immunodeficiencies, Severe Combined|Immunodeficiency, Severe Combined|Immunodeficiency Syndrome, Severe Combined|Immunologic Deficiency, Severe Combined|Lymphocyte Syndrome, Bare|Lymphocyte Syndromes, Bare|Omenn's Syndrome|Omenns Syndrome|Omenn Syndrome|Reticuloendothelioses, Familial|Reticuloendotheliosis, Familial|Severe Combined Immune Deficiency|Severe Combined Immunodeficiencies|Severe Combined Immunodeficiency Syndrome|Severe Combined Immunologic Deficiency|Syndrome, Bare Lymphocyte|Syndrome, Omenn|Syndrome, Omenn's|Syndromes, Bare Lymphocyte Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Severe combined immunodeficiency, atypical MESH:C537590 DO:DOID:0111943 MESH:D016511 C16.320.798.750/C537590|C16.614.815/C537590|C18.452.284.800/C537590|C20.673.795.750/C537590 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 SCID, atypical Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive MESH:C563311 DO:DOID:0090013|OMIM:601457 MESH:D016511 C16.320.798.750/C563311|C16.614.815/C563311|C18.452.284.800/C563311|C20.673.795.750/C563311 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative MESH:C563440 OMIM:600802 MESH:D016511 C16.320.798.750/C563440|C16.614.815/C563440|C18.452.284.800/C563440|C20.673.795.750/C563440 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive MESH:C563822 DO:DOID:0090014|OMIM:608971 MESH:D016511 C16.320.798.750/C563822|C16.614.815/C563822|C18.452.284.800/C563822|C20.673.795.750/C563822 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 IMD104|IMMUNODEFICIENCY 104|SCID, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive|SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE|SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Severe combined immunodeficiency due to adenosine deaminase deficiency MESH:C531816 OMIM:102700 MESH:D000361|MESH:D016511 C15.378.147.142/C531816|C15.604.515.032/C531816|C16.320.798.750/C531816|C16.614.815/C531816|C18.452.284.800/C531816|C20.673.088/C531816|C20.673.795.750/C531816 C15.378.147.142|C15.604.515.032|C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.088|C20.673.795.750 ADA Deficiency|ADA-SCID|Adenosine deaminase deficiency|Adenosine Deaminase Deficiency, Partial|ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, INCLUDED|Adenosine Deaminase Deficient Severe Combined Immunodeficiency|Adenosine deaminase-deficient severe combined immunodeficiency disease|Agammaglobulinemia, Swiss type|Bubble boy disease|Delayed-Late-Onset Adenosine Deaminase Deficiency|Partial ADA Deficiency|PARTIAL ADA DEFICIENCY, INCLUDED|Partial adenosine deaminase deficiency|SCID1|SCID Due to ADA Deficiency|SCID Due to ADA Deficiency, Delayed Onset|SCID Due to ADA Deficiency, Early-Onset|SCID DUE TO ADA DEFICIENCY, EARLY-ONSET SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED|SCID Due to ADA Deficiency, Late-Onset|SCID DUE TO ADA DEFICIENCY, LATE-ONSET, INCLUDED|Severe combined immunodeficiency, alymphocytotic type|Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency Blood disease|Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Lymphatic disease|Metabolic disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation MESH:C566970 OMIM:611291 MESH:D006130|MESH:D008831|MESH:D016511 C05.660.207.620/C566970|C10.500.507.400.500/C566970|C16.131.621.207.620/C566970|C16.131.666.507.400.500/C566970|C16.320.798.750/C566970|C16.614.815/C566970|C18.452.284.800/C566970|C20.673.795.750/C566970|C23.550.393/C566970 C05.660.207.620|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750|C23.550.393 NHEJ1 Syndrome|NHEJ1 SYNDROME SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED|SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, and Sensitivity to Ionizing Radiation due to NHEJ1 Deficiency|SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED|SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation|Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Due To Nhej1 Deficiency Congenital abnormality|Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process) Severe combined immunodeficiency with sensitivity to ionizing radiation MESH:C537589 DO:DOID:0090012|OMIM:602450 MESH:D016511 C16.320.798.750/C537589|C16.614.815/C537589|C18.452.284.800/C537589|C20.673.795.750/C537589 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY, INCLUDED|RS-SCID|SCIDA, INCLUDED|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation|SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED|SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL, INCLUDED Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Severe Dengue MESH:D019595 DO:DOID:12206 A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome. MESH:D003715 C01.920.500.270.200|C01.925.081.270.200|C01.925.782.350.250.214.200|C01.925.782.417.214.200 C01.920.500.270|C01.925.081.270|C01.925.782.350.250.214|C01.925.782.417.214 Dengue Hemorrhagic Fever|Dengue, Severe|Dengue Shock Syndrome|Dengues, Severe|Fever, Philippine Hemorrhagic|Fever, Singapore Hemorrhagic|Fever, Thai Hemorrhagic|Hemorrhagic Dengue|Hemorrhagic Dengues|Hemorrhagic Fever, Dengue|Philippine Hemorrhagic Fever|Severe Dengues|Singapore Hemorrhagic Fever|Thai Hemorrhagic Fever Viral disease Severe Fever with Thrombocytopenia Syndrome MESH:D000085142 A tick-borne infection with SEVERE FEVER WITH THROMBOCYTOPENIA SYNDROME BUNYAVIRUS of the genus Phlebovirus. It is associated with fever, THROMBOCYTOPENIA; LEUKOCYTOPENIA, and multiorgan dysfunction. It is found in parts of Asia including China, Japan, Korea and Vietnam and can be transmitted from infected domestic animals and humans. MESH:D002044|MESH:D017282 C01.920.930.831|C01.925.782.147.905 C01.920.930|C01.925.782.147 Infection, SFTS Virus|Severe Fever with Thrombocytopenia Syndrome Bunyavirus Infection|SFTS Virus Infection|SFTS Virus Infections|Virus Infection, SFTS Viral disease Severe infantile axonal neuropathy MESH:C537593 MESH:D011115 C10.668.829.800/C537593 C10.668.829.800 Nervous system disease Sex Chromosome Aberrations MESH:D012729 Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT. MESH:D002869 C23.550.210.815 C23.550.210 Aberration, Sex Chromosome|Aberrations, Sex Chromosome|Abnormalities, Sex Chromosome|Abnormality, Sex Chromosome|Chromosome Aberration, Sex|Chromosome Aberrations, Sex|Chromosome Abnormalities, Sex|Chromosome Abnormality, Sex|Sex Chromosome Aberration|Sex Chromosome Abnormalities|Sex Chromosome Abnormality Pathology (process) Sex Chromosome Disorders MESH:D025064 Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment). MESH:D025063 C16.131.260.830|C16.320.180.830 C16.131.260|C16.320.180 Chromosome Disorder, Sex|Chromosome Disorders, Sex|Disorders, Sex Chromosome|Disorders, Sex Chromosome Abnormality|Sex Chromosome Abnormality Disorders|Sex Chromosome Disorder Congenital abnormality|Genetic disease (inborn) Sex Chromosome Disorders of Sex Development MESH:D058533 Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM. MESH:D012734|MESH:D025064 C12.050.351.875.253.795|C12.200.706.316.795|C12.800.316.795|C16.131.260.830.835|C16.131.939.316.795|C16.320.180.830.835|C19.391.119.795 C12.050.351.875.253|C12.200.706.316|C12.800.316|C16.131.260.830|C16.131.939.316|C16.320.180.830|C19.391.119 Chromosome DSD, Sex|Chromosome DSDs, Sex|DSD, Sex Chromosome|DSDs, Sex Chromosome|Sex Chromosome DSD|Sex Chromosome DSDs Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Sex Cord-Gonadal Stromal Tumors MESH:D018312 DO:DOID:192 Neoplasms derived from the primitive sex cord or gonadal stromal cells of the embryonic GONADS. They are classified by their presumed histogenesis and differentiation. From the sex cord, there are SERTOLI CELL TUMOR and GRANULOSA CELL TUMOR; from the gonadal stroma, LEYDIG CELL TUMOR and THECOMA. These tumors may be identified in either the OVARY or the TESTIS. MESH:D018309 C04.557.475.750 C04.557.475 Gynandroblastoma|Gynandroblastomas|Sex Cord Stromal Tumor|Sex Cord-Stromal Tumor|Sex Cord-Stromal Tumors|Tumor, Sex Cord-Stromal|Tumors, Sex Cord-Stromal Cancer Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs MESH:C567517 MESH:D000307|MESH:D007674|MESH:D015619|MESH:D058531 C08.695/C567517|C12.050.351.875.253.064.124/C567517|C12.050.351.968.419/C567517|C12.200.706.316.064.124/C567517|C12.200.777.419/C567517|C12.800.316.064.124/C567517|C12.950.419/C567517|C16.131.740/C567517|C16.131.939.316.064.124/C567517|C19.053/C567517|C19.391.119.064.124/C567517 C08.695|C12.050.351.875.253.064.124|C12.050.351.968.419|C12.200.706.316.064.124|C12.200.777.419|C12.800.316.064.124|C12.950.419|C16.131.740|C16.131.939.316.064.124|C19.053|C19.391.119.064.124 SERKAL|SERKAL Syndrome Congenital abnormality|Endocrine system disease|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) Sexual and Gender Disorders MESH:D019968 Mental disorders related to sexual dysfunction, paraphilias, and gender identity disorders. MESH:D020018 F03.835.750 F03.835 Mental disorder Sexual Dysfunction, Physiological MESH:D012735 Physiological disturbances in normal sexual performance in either the male or the female. MESH:D000091662 C12.100.875 C12.100 Physiological Sexual Disorder|Physiological Sexual Disorders|Physiological Sexual Dysfunction|Physiological Sexual Dysfunctions|Sex Disorders|Sexual Disorder, Physiological|Sexual Disorders, Physiological|Sexual Dysfunctions, Physiological Sexual Dysfunctions, Psychological MESH:D020018 DO:DOID:13868 Disturbances in sexual desire and the psychophysiologic changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty. (APA, DSM-IV, 1994) MESH:D001523 F03.835 F03 Arousal Disorders, Sexual|Aversion Disorders, Sexual|Disorder, Psychosexual|Disorders, Orgasmic|Disorders, Psychosexual|Disorders, Sexual Arousal|Disorders, Sexual Aversion|Dysfunction, Psychological Sexual|Dysfunction, Psychosexual|Dysfunctions, Psychological Sexual|Dysfunctions, Psychosexual|Frigidity|Hypoactive Sexual Desire Disorder|Orgasmic Disorder|Orgasmic Disorders|Psychological Sexual Dysfunction|Psychological Sexual Dysfunctions|Psychosexual Disorder|Psychosexual Disorders|Psychosexual Dysfunction|Psychosexual Dysfunctions|Sexual Arousal Disorder|Sexual Arousal Disorders|Sexual Aversion Disorder|Sexual Aversion Disorders|Sexual Dysfunction, Psychological Mental disorder Sexual Infantilism MESH:D050035 The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY. MESH:D006059|MESH:D007006 C12.050.351.875.253.309.631|C12.200.706.316.309.631|C12.800.316.309.631|C16.131.939.316.309.631|C19.391.119.309.631|C19.391.482.814 C12.050.351.875.253.309|C12.200.706.316.309|C12.800.316.309|C16.131.939.316.309|C19.391.119.309|C19.391.482 Genital Infantilism|Infantilism, Genital|Infantilism, Sexual Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Sexually Transmitted Diseases MESH:D012749 Diseases due to or propagated by sexual contact. MESH:D000091662|MESH:D003141|MESH:D007239 C01.221.812|C01.778|C12.100.937|C23.550.291.531.937 C01|C01.221|C12.100|C23.550.291.531 Disease, Sexually Transmitted|Diseases, Sexually Transmitted|Diseases, Venereal|Disease, Venereal|Infection, Sexually Transmitted|Infections, Sexually Transmitted|Sexually Transmitted Disease|Sexually Transmitted Infection|Sexually Transmitted Infections|STDs|STI|STIs|Transmitted Infection, Sexually|Transmitted Infections, Sexually|Venereal Disease|Venereal Diseases Pathology (process) Sexually Transmitted Diseases, Bacterial MESH:D015231 Bacterial diseases transmitted or propagated by sexual conduct. MESH:D001424|MESH:D012749 C01.150.252.734|C01.221.812.281|C01.778.281|C12.100.937.281|C23.550.291.531.937.281 C01.150.252|C01.221.812|C01.778|C12.100.937|C23.550.291.531.937 Bacterial Sexually Transmitted Disease|Bacterial Sexually Transmitted Diseases|Bacterial Venereal Disease|Bacterial Venereal Diseases|Disease, Bacterial Venereal|Sexually Transmitted Disease, Bacterial|Venereal Disease, Bacterial|Venereal Diseases, Bacterial Bacterial infection or mycosis|Pathology (process) Sexually Transmitted Diseases, Viral MESH:D015229 Viral diseases which are transmitted or propagated by sexual conduct. MESH:D012749|MESH:D014777 C01.221.812.640|C01.778.640|C01.925.813|C12.100.937.640|C23.550.291.531.937.640 C01.221.812|C01.778|C01.925|C12.100.937|C23.550.291.531.937 Diseases, Viral Venereal|Disease, Viral Venereal|Sexually Transmitted Disease, Viral|Venereal Diseases, Viral|Venereal Disease, Viral|Viral Sexually Transmitted Disease|Viral Sexually Transmitted Diseases|Viral Venereal Disease|Viral Venereal Diseases Pathology (process)|Viral disease Sexual Trauma MESH:D000082002 Physical and psychological injuries resulting from SEXUAL VIOLENCE. MESH:D040921 F03.950.750.438 F03.950.750 Abuse Trauma, Sexual|Abuse Traumas, Sexual|Sexual Abuse Trauma|Sexual Abuse Traumas|Sexual Traumas|Trauma, Sexual|Trauma, Sexual Abuse|Traumas, Sexual|Traumas, Sexual Abuse Mental disorder Sezary Syndrome MESH:D012751 DO:DOID:8541 A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells). MESH:D008232|MESH:D016410 C04.557.386.480.750.800.775|C15.604.515.569.480.750.800.775|C15.604.515.841|C20.683.515.761.480.750.800.775|C20.683.515.920 C04.557.386.480.750.800|C15.604.515|C15.604.515.569.480.750.800|C20.683.515|C20.683.515.761.480.750.800 Erythroderma, Sezary|Lymphoma, Sezary's|Sezary Erythroderma|Sezary Lymphoma|Sezary's Lymphoma|Sezarys Lymphoma|Syndrome, Sezary Cancer|Immune system disease|Lymphatic disease Shaken Baby Syndrome MESH:D038642 Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death. MESH:D001930 C10.900.300.087.850|C26.915.300.200.825 C10.900.300.087|C26.915.300.200 Nervous system disease|Wounds and injuries Shapiro syndrome MESH:C537594 MESH:D006945|MESH:D007035|MESH:D061085 C10.500.034/C537594|C16.131.666.034/C537594|C17.800.946.350/C537594|C23.300.008/C537594|C23.888.119.565/C537594 C10.500.034|C16.131.666.034|C17.800.946.350|C23.300.008|C23.888.119.565 Shapiro's syndrome Congenital abnormality|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease Shared Paranoid Disorder MESH:D012753 A condition in which closely related persons, usually in the same family, share the same delusions. MESH:D012559 F03.700.750.700 F03.700.750 Disorder, Shared Paranoid|Disorder, Shared Psychotic|Disorders, Shared Paranoid|Disorders, Shared Psychotic|Folie a Deux|Folie a Trois|Paranoid Disorder, Shared|Paranoid Disorders, Shared|Psychotic Disorder, Shared|Psychotic Disorders, Shared|Shared Paranoid Disorders|Shared Psychotic Disorder|Shared Psychotic Disorders Mental disorder Sharma Kapoor Ramji syndrome MESH:C537595 MESH:D000015|MESH:D005317 C12.050.703.277.370/C537595|C16.131.077/C537595|C16.300.390/C537595|C23.550.393.450/C537595 C12.050.703.277.370|C16.131.077|C16.300.390|C23.550.393.450 Congenital abnormality|Fetal disease|Pathology (process)|Pregnancy complication Sheep Diseases MESH:D012757 Diseases of domestic and mountain sheep of the genus Ovis. MESH:D000820 C22.836 C22 Disease, Ovine|Disease, Sheep|Diseases, Ovine|Diseases, Sheep|Ovine Disease|Ovine Diseases|Sheep Disease Animal disease Shellfish Hypersensitivity MESH:D000067208 Allergic reaction to SHELLFISH or shellfish products. MESH:D005512 C20.543.480.370.763 C20.543.480.370 Allergies, Shellfish|Allergy, Shellfish|Hypersensitivities, Shellfish|Hypersensitivity, Shellfish|Shellfish Allergies|Shellfish Allergy|Shellfish Hypersensitivities Immune system disease Shellfish Poisoning MESH:D057096 Poisoning from toxins present in bivalve mollusks that have been ingested. Four distinct types of shellfish poisoning are recognized based on the toxin involved. MESH:D005517 C25.723.415.792 C25.723.415 Amnesic Shellfish Poisoning|Amnesic Shellfish Poisonings|Diarrhetic Shellfish Poisoning|Diarrhetic Shellfish Poisonings|Neurotoxic Shellfish Poisoning|Neurotoxic Shellfish Poisonings|Paralytic Shellfish Poisoning|Paralytic Shellfish Poisonings|Poisoning, Amnesic Shellfish|Poisoning, Diarrhetic Shellfish|Poisoning, Neurotoxic Shellfish|Poisoning, Paralytic Shellfish|Poisonings, Amnesic Shellfish|Poisonings, Diarrhetic Shellfish|Poisoning, Shellfish|Poisonings, Neurotoxic Shellfish|Poisonings, Paralytic Shellfish|Poisonings, Shellfish|Shellfish Poisoning, Amnesic|Shellfish Poisoning, Diarrhetic|Shellfish Poisoning, Neurotoxic|Shellfish Poisoning, Paralytic|Shellfish Poisonings|Shellfish Poisonings, Amnesic|Shellfish Poisonings, Diarrhetic|Shellfish Poisonings, Neurotoxic|Shellfish Poisonings, Paralytic shenjing shuairuo MESH:C000711650 MESH:D009440 F03.875.600/C000711650 F03.875.600 Mental disorder Shock MESH:D012769 A pathological condition manifested by failure to perfuse or oxygenate vital organs. MESH:D010335 C23.550.835 C23.550 Circulatory Collapse|Circulatory Failure|Collapse, Circulatory|Failure, Circulatory|Hypovolemic Shock|Shock, Hypovolemic Pathology (process) Shock, Cardiogenic MESH:D012770 Shock resulting from diminution of cardiac output in heart disease. MESH:D009203|MESH:D012769 C14.280.647.500.750|C14.907.585.500.750|C23.550.513.355.750.750|C23.550.717.489.750.750|C23.550.835.550 C14.280.647.500|C14.907.585.500|C23.550.513.355.750|C23.550.717.489.750|C23.550.835 Cardiogenic Shock Cardiovascular disease|Pathology (process) Shock, Hemorrhagic MESH:D012771 Acute hemorrhage or excessive fluid loss resulting in HYPOVOLEMIA. MESH:D006470|MESH:D012769 C23.550.414.980|C23.550.835.650 C23.550.414|C23.550.835 Hemorrhagic Shock Pathology (process) Shock, Septic MESH:D012772 DO:DOID:14115 Sepsis associated with HYPOTENSION or hypoperfusion despite adequate fluid resuscitation. Perfusion abnormalities may include but are not limited to LACTIC ACIDOSIS; OLIGURIA; or acute alteration in mental status. MESH:D018746|MESH:D018805 C01.757.800|C23.550.470.790.500.800|C23.550.835.900.712 C01.757|C23.550.470.790.500|C23.550.835.900 Endotoxin Shock|Endotoxin Shocks|Septic Shock|Shock, Endotoxic|Shock, Endotoxin|Shocks, Endotoxin|Shock Syndrome, Toxic|Shock, Toxic|Toxic Shock|Toxic Shock Syndrome|Toxic Shock Syndromes Pathology (process) Shock, Surgical MESH:D012773 A type of shock that occurs as a result of a surgical procedure. MESH:D011183|MESH:D012769 C23.550.767.879|C23.550.835.775 C23.550.767|C23.550.835 Surgical Shock|Surgical Shocks Pathology (process) Shock, Traumatic MESH:D012774 Shock produced as a result of trauma. MESH:D012769|MESH:D014947 C23.550.835.888|C26.797 C23.550.835|C26 Traumatic Shock Pathology (process)|Wounds and injuries Short Bowel Syndrome MESH:D012778 DO:DOID:10605 A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT. MESH:D008286|MESH:D011183 C06.405.469.637.832|C23.550.767.882 C06.405.469.637|C23.550.767 Bowel Syndrome, Short|Bowel Syndromes, Short|Short Bowel Syndromes|Syndrome, Short Bowel|Syndromes, Short Bowel Digestive system disease|Pathology (process) Short chain Acyl CoA dehydrogenase deficiency MESH:C537596 OMIM:201470 MESH:D008052 C16.320.565.398/C537596|C18.452.584.563/C537596|C18.452.648.398/C537596 C16.320.565.398|C18.452.584.563|C18.452.648.398 ACADSD|Acads Deficiency|Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of|Deficiency of Butyryl-Coa Dehydrogenase|Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency|Scad Deficiency|Scadh Deficiency|Short-Chain Acyl-Coa Dehydrogenase Deficiency|Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Genetic disease (inborn)|Metabolic disease Short limb dwarfism Al Gazali type MESH:C537598 MESH:D004392 C05.116.099.343/C537598|C16.320.240/C537598|C19.297/C537598 C05.116.099.343|C16.320.240|C19.297 Lethal neonatal short limb dwarfism|Lethal short-limb skeletal dysplasia, Al Gazali type Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Short limb dwarf lethal Colavita Kozlowski type MESH:C537597 MESH:D013796 C05.116.099.343.110.500/C537597|C05.116.099.708.017.500/C537597|C05.660.585.984/C537597|C16.131.621.585.984/C537597|C16.320.240.500.500/C537597|C16.614.890/C537597 C05.116.099.343.110.500|C05.116.099.708.017.500|C05.660.585.984|C16.131.621.585.984|C16.320.240.500.500|C16.614.890 Colavita Kozlowski syndrome Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency MESH:C565984 MESH:D000130|MESH:D016511 C05.116.099.343.110/C565984|C05.116.099.708.017/C565984|C16.320.240.500/C565984|C16.320.798.750/C565984|C16.614.815/C565984|C18.452.284.800/C565984|C20.673.795.750/C565984 C05.116.099.343.110|C05.116.099.708.017|C16.320.240.500|C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 Achondroplasia, So-Called, and Severe Combined Immunodeficiency Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease|Musculoskeletal disease Short Qt Syndrome MESH:C580439 MESH:D001145 C14.280.067/C580439|C23.550.073/C580439 C14.280.067|C23.550.073 Cardiovascular disease|Pathology (process) Short QT Syndrome 1 MESH:C566506 OMIM:609620 MESH:D001145|MESH:D006330 C14.240.400/C566506|C14.280.067/C566506|C14.280.400/C566506|C16.131.240.400/C566506|C23.550.073/C566506 C14.240.400|C14.280.067|C14.280.400|C16.131.240.400|C23.550.073 SQT1 Cardiovascular disease|Congenital abnormality|Pathology (process) Short QT Syndrome 2 MESH:C566505 OMIM:609621 MESH:D001145|MESH:D006330 C14.240.400/C566505|C14.280.067/C566505|C14.280.400/C566505|C16.131.240.400/C566505|C23.550.073/C566505 C14.240.400|C14.280.067|C14.280.400|C16.131.240.400|C23.550.073 SQT2 Cardiovascular disease|Congenital abnormality|Pathology (process) Short QT Syndrome 3 MESH:C566504 OMIM:609622 MESH:D001145|MESH:D006330 C14.240.400/C566504|C14.280.067/C566504|C14.280.400/C566504|C16.131.240.400/C566504|C23.550.073/C566504 C14.240.400|C14.280.067|C14.280.400|C16.131.240.400|C23.550.073 SQT3 Cardiovascular disease|Congenital abnormality|Pathology (process) Short Rib-Polydactyly Syndrome MESH:D012779 OMIM:263520|OMIM:266920|OMIM:613819|OMIM:614091|OMIM:615503|OMIM:615630|OMIM:615633|OMIM:616300|OMIM:616546|OMIM:617088|OMIM:617102|OMIM:617405 A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly. MESH:D000015|MESH:D010009|MESH:D017689 C05.116.099.708.857|C05.660.585.600.750|C16.131.077.850|C16.131.621.585.600.750 C05.116.099.708|C05.660.585.600|C16.131.077|C16.131.621.585.600 Asphyxiating Thoracic Dystrophy 3|ASPHYXIATING THORACIC DYSTROPHY 4|ATD4|CONORENAL SYNDROME|MAINZER-SALDINO SYNDROME|Majewski Syndrome|MZSDS|Polydactyly with Neonatal Chondrodystrophy, Type 1|Polydactyly with Neonatal Chondrodystrophy, Type 2|Polydactyly With Neonatal Chondrodystrophy, Type I|Polydactyly With Neonatal Chondrodystrophy, Type II|RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA|Saldino Noonan Syndrome|Saldino-Noonan Syndrome|Short Rib Polydactyly Syndrome|Short Rib Polydactyly Syndrome, Majewski Type|Short Rib-Polydactyly Syndrome, Majewski Type|Short Rib-Polydactyly Syndromes|Short Rib Polydactyly Syndrome, Saldino Noonan Type|Short Rib-Polydactyly Syndrome, Saldino-Noonan Type|Short Rib Polydactyly Syndrome Type 1|Short Rib-Polydactyly Syndrome Type 1|Short Rib Polydactyly Syndrome, Type I|Short Rib-Polydactyly Syndrome, Type I|Short Rib Polydactyly Syndrome, Type II|Short Rib-Polydactyly Syndrome, Type II|SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA|SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI|SHORT RIB-POLYDACTYLY SYNDROME, TYPE V;SRPS5 SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC, INCLUDED|SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY|SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY|SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY|SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY|SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY|SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY|SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY|SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY|SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY|SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY|SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY|SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY|SRPS2A|SRPS6|SRPS, TYPE II|SRTD10|SRTD11|SRTD13|SRTD14|SRTD15|SRTD16|SRTD17|SRTD4|SRTD6|SRTD7|SRTD7/20, INCLUDED|SRTD8|SRTD9 Congenital abnormality|Musculoskeletal disease Short rib-polydactyly syndrome, Beemer type MESH:C537599 DO:DOID:9249 MESH:D012779 C05.116.099.708.857/C537599|C05.660.585.600.750/C537599|C16.131.077.850/C537599|C16.131.621.585.600.750/C537599 C05.116.099.708.857|C05.660.585.600.750|C16.131.077.850|C16.131.621.585.600.750 Beemer Langer syndrome|Beemer-Langer Syndrome|Short rib-polydactyly syndrome, type 4|Short Rib-Polydactyly Syndrome, Type IV|Short Rib Syndrome, Beemer Type|SRPS IV|SRPS, type 4 Congenital abnormality|Musculoskeletal disease Short rib-polydactyly syndrome, Verma-Naumoff type MESH:C537602 OMIM:613091 MESH:D012779 C05.116.099.708.857/C537602|C05.660.585.600.750/C537602|C16.131.077.850/C537602|C16.131.621.585.600.750/C537602 C05.116.099.708.857|C05.660.585.600.750|C16.131.077.850|C16.131.621.585.600.750 ASPHYXIATING THORACIC DYSTROPHY 3|ATD3|Polydactyly with neonatal chondrodystrophy, type 3|POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I|Polydactyly With Neonatal Chondrodystrophy, Type III|SALDINO-NOONAN SYNDROME|SHORT RIB-POLYDACTYLY SYNDROME, TYPE I|SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB|Short Rib-Polydactyly Syndrome, Type III|SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY|SRPS1|SRPS2B|SRPS3|SRTD3|Verma-Naumoff syndrome Congenital abnormality|Musculoskeletal disease SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS OMIM:165800 DO:DOID:84 MESH:C580095|MESH:D006130|MESH:D010003 C05.116.791.668/C580095/165800|C05.550.114.606/165800|C05.799.613/165800|C23.550.393/165800 C05.116.791.668/C580095|C05.550.114.606|C05.799.613|C23.550.393 OD|OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS|SSOAOD Musculoskeletal disease|Pathology (process) Short Stature And Facioauriculothoracic Malformations MESH:C566457 MESH:D004392|MESH:D019465 C05.116.099.343/C566457|C05.660.207/C566457|C16.131.621.207/C566457|C16.320.240/C566457|C19.297/C566457 C05.116.099.343|C05.660.207|C16.131.621.207|C16.320.240|C19.297 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Short stature and locking fingers MESH:C537603 MESH:D005317|MESH:D007592 C05.550/C537603|C12.050.703.277.370/C537603|C16.300.390/C537603|C23.550.393.450/C537603 C05.550|C12.050.703.277.370|C16.300.390|C23.550.393.450 Fetal disease|Musculoskeletal disease|Pathology (process)|Pregnancy complication Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities MESH:C566544 MESH:D001848 C05.116.099/C566544 C05.116.099 Sams Musculoskeletal disease Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly MESH:C567093 MESH:D006130|MESH:D013576|MESH:D019066|MESH:D059327 C05.116.099.370.894.819/C567093|C05.660.585.262/C567093|C05.660.585.800/C567093|C05.660.906.819/C567093|C16.131.621.585.262/C567093|C16.131.621.585.800/C567093|C16.131.621.906.819/C567093|C23.550.291.812/C567093|C23.550.393/C567093 C05.116.099.370.894.819|C05.660.585.262|C05.660.585.800|C05.660.906.819|C16.131.621.585.262|C16.131.621.585.800|C16.131.621.906.819|C23.550.291.812|C23.550.393 Dauwerse Peters Syndrome Congenital abnormality|Musculoskeletal disease|Pathology (process) Short Stature, Idiopathic, Autosomal MESH:C565805 OMIM:604271 MESH:D004393 C05.116.099.343.445/C565805|C05.116.132.358/C565805|C10.228.140.617.738.300.300/C565805|C19.297.312/C565805|C19.700.482.311/C565805 C05.116.099.343.445|C05.116.132.358|C10.228.140.617.738.300.300|C19.297.312|C19.700.482.311 GHIP|Growth Hormone Deficiency, Isolated, Partial|GROWTH HORMONE INSENSITIVITY, PARTIAL|Growth Hormone, Insensitivity To, Partial|INCREASED RESPONSIVENESS TO GROWTH HORMONE, INCLUDED Endocrine system disease|Musculoskeletal disease|Nervous system disease Short Stature, Idiopathic, X-Linked MESH:C564479 OMIM:300582 MESH:D006130|MESH:D040181 C16.320.322/C564479|C23.550.393/C564479 C16.320.322|C23.550.393 ISS Genetic disease (inborn)|Pathology (process) Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting MESH:C566989 MESH:D000015|MESH:D000853|MESH:D002971|MESH:D004392|MESH:D008607|MESH:D061085 C05.116.099.343/C566989|C07.465.409.225/C566989|C07.465.525.164/C566989|C07.650.525.164/C566989|C10.500.034/C566989|C10.597.606.360/C566989|C11.250.080/C566989|C16.131.077/C566989|C16.131.384.159/C566989|C16.131.666.034/C566989|C16.131.850.525.164/C566989|C16.320.240/C566989|C19.297/C566989|C23.300.008/C566989|C23.888.592.604.646/C566989|F03.625.539/C566989 C05.116.099.343|C07.465.409.225|C07.465.525.164|C07.650.525.164|C10.500.034|C10.597.606.360|C11.250.080|C16.131.077|C16.131.384.159|C16.131.666.034|C16.131.850.525.164|C16.320.240|C19.297|C23.300.008|C23.888.592.604.646|F03.625.539 Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Short Stature-Obesity Syndrome MESH:C564821 MESH:D004392|MESH:D009765|MESH:D017880|MESH:D019465 C05.116.099.343/C564821|C05.660.207/C564821|C05.660.585/C564821|C16.131.621.207/C564821|C16.131.621.585/C564821|C16.320.240/C564821|C18.654.726.750.500/C564821|C19.297/C564821|C23.888.144.699.500/C564821 C05.116.099.343|C05.660.207|C05.660.585|C16.131.621.207|C16.131.621.585|C16.320.240|C18.654.726.750.500|C19.297|C23.888.144.699.500 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nutrition disorder|Signs and symptoms Short stature syndrome, Brussels type MESH:C537121 MESH:D006130|MESH:D010009 C05.116.099.708/C537121|C16.320.728/C537121|C23.550.393/C537121 C05.116.099.708|C16.320.728|C23.550.393 Mievis Verellen-Dumoulin syndrome Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) SHORT syndrome MESH:C537327 DO:DOID:0111454|OMIM:269880 MESH:D006130|MESH:D006934|MESH:D008659|MESH:D009397 C12.050.351.968.419.590/C537327|C12.200.777.419.590/C537327|C12.950.419.590/C537327|C18.452.174.130.560/C537327|C18.452.174.451/C537327|C18.452.950.340/C537327|C18.452/C537327|C23.550.393/C537327 C12.050.351.968.419.590|C12.200.777.419.590|C12.950.419.590|C18.452|C18.452.174.130.560|C18.452.174.451|C18.452.950.340|C23.550.393 Lipodystrophy, Partial, With Rieger Anomaly, And Short Stature|LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE|SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY Metabolic disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Shoulder Dislocation MESH:D012783 Displacement of the HUMERUS from the SCAPULA. MESH:D000070599|MESH:D004204 C05.550.518.750|C26.289.750|C26.803.125 C05.550.518|C26.289|C26.803 Dislocation, Glenohumeral|Dislocations, Glenohumeral|Dislocation, Shoulder|Dislocations, Shoulder|Glenohumeral Dislocation|Glenohumeral Dislocations|Glenohumeral Subluxation|Glenohumeral Subluxations|Shoulder Dislocations|Subluxation, Glenohumeral|Subluxations, Glenohumeral Musculoskeletal disease|Wounds and injuries Shoulder Dystocia MESH:D000080883 Obstetric complication during OBSTETRIC DELIVERY in which exit of the fetus is delayed due to physical obstruction involving fetal shoulder(s). MESH:D004420 C12.050.703.420.288.364 C12.050.703.420.288 Dystocia, Fetal Shoulder|Dystocia, Shoulder|Fetal Shoulder Dystocia|Fetal Shoulder Dystocias|Shoulder Dystocia, Fetal|Shoulder Dystocias Pregnancy complication Shoulder Fractures MESH:D012784 Fractures of the proximal humerus, including the head, anatomic and surgical necks, and tuberosities. MESH:D000070599|MESH:D050723 C26.404.625|C26.803.250 C26.404|C26.803 Fracture, Greater Tuberosity|Fracture, Humeral Head|Fracture, Proximal Humeral|Fracture, Shoulder|Fractures, Shoulder|Greater Tuberosity Fracture|Greater Tuberosity Fractures|Head Fracture, Humeral|Humeral Fracture, Proximal|Humeral Fractures, Proximal|Humeral Head Fracture|Humeral Head Fracture Dislocation|Humeral Head Fractures|Proximal Humeral Fracture|Proximal Humeral Fractures|Shoulder Fracture Wounds and injuries Shoulder Impingement Syndrome MESH:D019534 DO:DOID:14276 Compression of the ROTATOR CUFF tendons and subacromial bursa between the HUMERAL HEAD and the ACROMION of the SCAPULA. This condition is associated with subacromial BURSITIS, as well as rotator cuff (largely supraspinatus) and bicipital tendon INFLAMMATION. MESH:D000070599|MESH:D007592 C05.550.840|C26.803.500 C05.550|C26.803 Coracohumeral Impingement|Coracohumeral Impingements|Coracohumeral Impingement Syndrome|Coracohumeral Impingement Syndromes|Coracoid Impingement Syndrome|Coracoid Impingement Syndromes|Impingement, Coracohumeral|Impingement, Posterosuperior Glenoid|Impingement, Rotator Cuff|Impingement, Shoulder|Impingements, Posterosuperior Glenoid|Impingements, Rotator Cuff|Internal Impingement Syndrome|Internal Impingement Syndromes|Outlet Impingement|Outlet Impingements|Outlet Impingement Syndrome|Outlet Impingement Syndromes|Posterosuperior Glenoid Impingement|Posterosuperior Glenoid Impingements|Rotator Cuff Impingement|Rotator Cuff Impingements|Rotator Cuff Impingement Syndrome|Shoulder Impingement|Shoulder Impingements|Shoulder Impingement Syndromes|Subacromial Impingement Syndrome|Subacromial Impingement Syndromes Musculoskeletal disease|Wounds and injuries Shoulder Injuries MESH:D000070599 Injuries involving the SHOULDERS and SHOULDER JOINT. MESH:D014947 C26.803 C26 Injuries, Shoulder|Injury, Shoulder|Shoulder Injury|SLAP Tear|SLAP Tears|Superior Labrum from Anterior to Posterior Injuries|Tear, SLAP|Tears, SLAP Wounds and injuries Shoulder Pain MESH:D020069 Unilateral or bilateral pain of the shoulder. It is often caused by physical activities such as work or sports participation, but may also be pathologic in origin. MESH:D018771 C05.550.091.700|C23.888.592.612.094.700 C05.550.091|C23.888.592.612.094 Pain, Shoulder|Pains, Shoulder|Shoulder Pains Musculoskeletal disease|Signs and symptoms Shprintzen Golberg craniosynostosis MESH:C537328 OMIM:182212 MESH:D003398|MESH:D008382|MESH:D054119 C05.116.099.370.894.232/C537328|C05.116.099.674/C537328|C05.660.207.240/C537328|C05.660.585.174/C537328|C05.660.906.364/C537328|C14.240.400.725/C537328|C14.280.400.725/C537328|C16.131.077.550/C537328|C16.131.240.400.720/C537328|C16.131.621.207.240/C537328|C16.131.621.585.174/C537328|C16.131.621.906.364/C537328|C16.320.540/C537328|C17.300.500/C537328 C05.116.099.370.894.232|C05.116.099.674|C05.660.207.240|C05.660.585.174|C05.660.906.364|C14.240.400.725|C14.280.400.725|C16.131.077.550|C16.131.240.400.720|C16.131.621.207.240|C16.131.621.585.174|C16.131.621.906.364|C16.320.540|C17.300.500 Craniosynostosis and Marfanoid disorder, type 1|Craniosynostosis with arachnodactyly and abdominal hernias|Marfanoid craniosynostosis syndrome|Marfanoid-Craniosynostosis Syndrome|Marfanoid Disorder With Craniosynostosis, Type I|SGS|Shprintzen Golberg craniosynostosis syndrome|Shprintzen-Goldberg Craniosynostosis Syndrome|Shprintzen-Goldberg Syndrome Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease Shprintzen omphalocele syndrome MESH:C537329 MESH:D000015|MESH:D006554|MESH:D012600|MESH:D019066 C05.116.900.800.875/C537329|C16.131.077/C537329|C16.614.378/C537329|C23.300.707.374.937.500/C537329|C23.550.291.812/C537329 C05.116.900.800.875|C16.131.077|C16.614.378|C23.300.707.374.937.500|C23.550.291.812 Laryngeal and pharyngeal hypoplasia with omphalocele|Pharynx and larynx hypoplasia with omphalocele|Shprintzen-Goldberg omphalocele syndrome Congenital abnormality|Infant-newborn disease|Musculoskeletal disease|Pathology (anatomical condition)|Pathology (process) shubo-kyofu MESH:C000711530 MESH:D000072861|MESH:D057215 F03.080.725.500/C000711530|F03.875.149/C000711530 F03.080.725.500|F03.875.149 shubo kyofu|shubokyofu Mental disorder Shwachman-Diamond Syndrome MESH:D000081003 OMIM:260400 An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome. MESH:D000080984|MESH:D008052|MESH:D008068|MESH:D010188 C06.689.276.500|C15.378.190.223.500.875|C18.452.584.563.824|C18.452.584.718.875 C06.689.276|C15.378.190.223.500|C18.452.584.563|C18.452.584.718 Congenital Lipomatosis of Pancreas|LIPOMATOSIS OF PANCREAS, CONGENITAL|Metaphyseal Chondrodysplasia, Shwachman Type|Pancreas Congenital Lipomatoses|Pancreas Congenital Lipomatosis|Pancreatic Insufficiency and Bone Marrow Dysfunction|SDS|SDS1|Shwachman Bodian Diamond Syndrome|Shwachman-Bodian-Diamond Syndrome|Shwachman Bodian Syndrome|Shwachman-Bodian Syndrome|Shwachman Diamond Oski Syndrome|Shwachman-Diamond-Oski Syndrome|Shwachman Diamond Syndrome|SHWACHMAN-DIAMOND SYNDROME|SHWACHMAN-DIAMOND SYNDROME 1|Shwachman Syndrome Blood disease|Digestive system disease|Metabolic disease Shwartzman Phenomenon MESH:D012790 DO:DOID:3825 Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (ENDOTOXINS) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous THROMBOSIS and NECROSIS. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of IMMUNE SYSTEM, coagulation, FIBRINOLYSIS, and blood flow. MESH:D014657|MESH:D020141 C14.907.454.810|C14.907.940.890|C15.378.463.515.810 C14.907.454|C14.907.940|C15.378.463.515 Phenomenon, Schwartzman|Phenomenon, Shwartzman|Schwartzman Phenomenon|Schwartzman Reaction|Schwartzman Reactions|Shwartzman Reaction Blood disease|Cardiovascular disease Shy-Drager Syndrome MESH:D012791 DO:DOID:4752 A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536) MESH:D007022|MESH:D019578 C10.177.575.550.750|C10.228.140.079.612.700|C10.228.662.550.700|C14.907.514.741 C10.177.575.550|C10.228.140.079.612|C10.228.662.550|C14.907.514 Autonomic Failure, Progressive|Autonomic Failures, Progressive|Dysautonomia Orthostatic Hypotension Syndrome|Dysautonomia-Orthostatic Hypotension Syndrome|Dysautonomia-Orthostatic Hypotension Syndromes|Dysautonomic Orthostatic Hypotension|Dysautonomic Orthostatic Hypotensions|Failure, Progressive Autonomic|Failures, Progressive Autonomic|Hypotension, Dysautonomic Orthostatic|Hypotensions, Dysautonomic Orthostatic|Hypotension Syndrome, Dysautonomia-Orthostatic|Hypotension Syndromes, Dysautonomia-Orthostatic|Idiopathic Orthostatic Hypotension, Shy Drager Type|Idiopathic Orthostatic Hypotension, Shy-Drager Type|Orthostatic Hypotension, Dysautonomic|Orthostatic Hypotensions, Dysautonomic|Progressive Autonomic Failure|Progressive Autonomic Failures|Shy Drager Syndrome|Syndrome, Dysautonomia Orthostatic Hypotension|Syndrome, Dysautonomia-Orthostatic Hypotension|Syndromes, Dysautonomia-Orthostatic Hypotension|Syndrome, Shy-Drager Cardiovascular disease|Nervous system disease Sialadenitis MESH:D012793 DO:DOID:10303 INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries. MESH:D012466 C07.465.815.793 C07.465.815 Adenitides, Salivary Gland|Adenitis, Salivary Gland|Chronic Sialadenitides|Chronic Sialadenitis|Inflammation, Salivary Gland|Inflammations, Salivary Gland|Irradiation-Induced Sialadenitides|Irradiation Induced Sialadenitis|Irradiation-Induced Sialadenitis|Salivary Gland Adenitides|Salivary Gland Adenitis|Salivary Gland Inflammation|Salivary Gland Inflammations|Sialadenitides|Sialadenitides, Chronic|Sialadenitides, Irradiation-Induced|Sialadenitis, Chronic|Sialadenitis, Irradiation-Induced|Sialitides|Sialitis|Sialoadenitides|Sialoadenitis Mouth disease Sialic Acid Storage Disease MESH:D029461 DO:DOID:3659|OMIM:269920|OMIM:269921|OMIM:604369 Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided. MESH:D020140 C10.228.140.163.100.435.810|C16.320.565.189.435.810|C16.320.565.595.554.810|C18.452.132.100.435.810|C18.452.648.189.435.810|C18.452.648.595.554.810 C10.228.140.163.100.435|C16.320.565.189.435|C16.320.565.595.554|C18.452.132.100.435|C18.452.648.189.435|C18.452.648.595.554 Finnish Type Sialuria|Finnish Type Sialurias|French Type Sialuria|Infantile Form Sialuria|Infantile Form Sialurias|Infantile Sialic Acid Storage Disease|Infantile Sialic Acid Storage Disorder|Infantile Sialic Acid Storage Disorder (ISSD)|ISSD|N-ACETYLNEURAMINIC ACID STORAGE DISEASE|NANA STORAGE DISEASE|NSD|Salla Disease|SD|Sialic Acid Storage Disease, Finnish Type|Sialic Acid Storage Disease, Infantile Form|Sialuria|Sialuria, Finnish Type|SIALURIA, FRENCH TYPE|Sialuria, Infantile Form|Sialurias|Sialurias, Finnish Type|Sialurias, Infantile Form Genetic disease (inborn)|Metabolic disease|Nervous system disease Sialometaplasia, Necrotizing MESH:D012797 DO:DOID:12901 A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma. MESH:D012466 C07.465.815.802 C07.465.815 Necrotizing Sialometaplasia|Necrotizing Sialometaplasias|Sialometaplasias, Necrotizing Mouth disease Sialorrhea MESH:D012798 Increased salivary flow. MESH:D012466 C07.465.815.815 C07.465.815 Drooling|Hypersalivation Mouth disease Sialuria, French type MESH:C537332 MESH:D029461 C10.228.140.163.100.435.810/C537332|C16.320.565.189.435.810/C537332|C16.320.565.595.554.810/C537332|C18.452.132.100.435.810/C537332|C18.452.648.189.435.810/C537332|C18.452.648.595.554.810/C537332 C10.228.140.163.100.435.810|C16.320.565.189.435.810|C16.320.565.595.554.810|C18.452.132.100.435.810|C18.452.648.189.435.810|C18.452.648.595.554.810 Genetic disease (inborn)|Metabolic disease|Nervous system disease Sick Building Syndrome MESH:D018877 DO:DOID:2710 A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (ALVEOLITIS, EXTRINSIC ALLERGIC); allergic rhinitis (RHINITIS, ALLERGIC, PERENNIAL); ASTHMA; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992) MESH:D018876 C20.543.312.750|C21.223.750 C20.543.312|C21.223 Sick House Syndrome|Syndrome, Sick Building|Syndrome, Sick House|Syndromes, Sick House Environmental origin disorders|Immune system disease Sickle Cell Trait MESH:D012805 The condition of being heterozygous for hemoglobin S. MESH:D000755 C15.378.071.141.150.150.670|C15.378.420.155.668|C16.320.070.150.670|C16.320.365.155.668 C15.378.071.141.150.150|C15.378.420.155|C16.320.070.150|C16.320.365.155 Cell Trait, Sickle|Cell Traits, Sickle|Sickle Cell Traits|Trait, Sickle Cell|Traits, Sickle Cell Blood disease|Genetic disease (inborn) Sick Sinus Syndrome MESH:D012804 DO:DOID:13884 A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects. MESH:D001146|MESH:D006327 C14.280.067.093.249|C14.280.067.558.536|C14.280.123.500.536|C23.550.073.093.249|C23.550.073.425.440 C14.280.067.093|C14.280.067.558|C14.280.123.500|C23.550.073.093|C23.550.073.425 Dysfunction, Sinus Node|Dysfunctions, Sinus Node|Sick Sinus Node Syndrome|Sinus Node Disease|Sinus Node Diseases|Sinus Node Dysfunction|Syndrome, Sick Sinus Cardiovascular disease|Pathology (process) Sick Sinus Syndrome 1, Autosomal Recessive MESH:C563907 OMIM:608567 MESH:D012804 C14.280.067.093.249/C563907|C14.280.067.558.536/C563907|C14.280.123.500.536/C563907|C23.550.073.093.249/C563907|C23.550.073.425.440/C563907 C14.280.067.093.249|C14.280.067.558.536|C14.280.123.500.536|C23.550.073.093.249|C23.550.073.425.440 SICK SINUS SYNDROME 1|Sick Sinus Syndrome, Congenital|Sinus Bradycardia Syndrome, Familial|Sinus Node Disease, Familial, Autosomal Recessive|Sinus Rhythm, Congenital Absence of|SSS1 Cardiovascular disease|Pathology (process) Sick Sinus Syndrome 2, Autosomal Dominant MESH:C563513 OMIM:163800 MESH:D012804 C14.280.067.093.249/C563513|C14.280.067.558.536/C563513|C14.280.123.500.536/C563513|C23.550.073.093.249/C563513|C23.550.073.425.440/C563513 C14.280.067.093.249|C14.280.067.558.536|C14.280.123.500.536|C23.550.073.093.249|C23.550.073.425.440 Atrial Fibrillation with Bradyarrhythmia|SICK SINUS SYNDROME 2|SICK SINUS SYNDROME 2 WITH OR WITHOUT CARDIAC NONCOMPACTION AND/OR ASCENDING AORTA DILATION|Sinus Bradycardia Syndrome, Familial, Autosomal Dominant|Sinus Node Disease, Familial, Autosomal Dominant|SSS2 Cardiovascular disease|Pathology (process) Siderius X-linked mental retardation syndrome MESH:C537333 DO:DOID:0060812|OMIM:300263 MESH:D038901 C10.597.606.360.455/C537333|C16.320.322.500/C537333|C16.320.400.525/C537333 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SIDERIUS TYPE|Mental retardation X-linked Siderius type|Mental Retardation, X-Linked, Siderius Type|MENTAL RETARDATION, X-LINKED, SYNDROMIC, SIDERIUS TYPE|MRXSSD|Siderius Hamel syndrome|Siderius-Hamel Syndrome|SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME Genetic disease (inborn)|Nervous system disease Sideroblastic anemia, autosomal MESH:C537334 MESH:D000756 C15.378.071.419/C537334|C15.378.190.625.070/C537334 C15.378.071.419|C15.378.190.625.070 Sideroblastic anemia, autosomal recessive inheritance Blood disease Siderosis MESH:D012806 DO:DOID:10328 A form of pneumoconiosis resulting from inhalation of iron in the mining dust or welding fumes. MESH:D011009 C08.381.483.581.750|C08.381.520.702.750|C24.800.773 C08.381.483.581|C08.381.520.702|C24.800 Sideroses Occupational disease|Respiratory tract disease Siegler Brewer Carey syndrome MESH:C537335 MESH:D000015|MESH:D005767|MESH:D006314|MESH:D007674|MESH:D012140|MESH:D014786 C06.405/C537335|C08/C537335|C09.218.458.341.562/C537335|C10.597.751.418.341.562/C537335|C10.597.751.941/C537335|C11.966/C537335|C12.050.351.968.419/C537335|C12.200.777.419/C537335|C12.950.419/C537335|C16.131.077/C537335|C23.888.592.763.393.341.562/C537335|C23.888.592.763.941/C537335 C06.405|C08|C09.218.458.341.562|C10.597.751.418.341.562|C10.597.751.941|C11.966|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.077|C23.888.592.763.393.341.562|C23.888.592.763.941 Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Eye disease|Nervous system disease|Respiratory tract disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Sigmoid Diseases MESH:D012810 DO:DOID:1897 Pathological processes in the SIGMOID COLON region of the large intestine (INTESTINE, LARGE). MESH:D003108 C06.405.469.158.850 C06.405.469.158 Colon Disease, Sigmoid|Colon Diseases, Sigmoid|Disease, Sigmoid|Disease, Sigmoid Colon|Diseases, Sigmoid|Diseases, Sigmoid Colon|Sigmoid Colon Disease|Sigmoid Colon Diseases|Sigmoid Disease Digestive system disease Sigmoid Neoplasms MESH:D012811 DO:DOID:12192|DO:DOID:1896 Tumors or cancer of the SIGMOID COLON. MESH:D003110|MESH:D012810 C04.588.274.476.411.307.180.800|C06.301.371.411.307.180.800|C06.405.249.411.307.180.800|C06.405.469.158.356.180.800|C06.405.469.158.850.850|C06.405.469.491.307.180.800 C04.588.274.476.411.307.180|C06.301.371.411.307.180|C06.405.249.411.307.180|C06.405.469.158.356.180|C06.405.469.158.850|C06.405.469.491.307.180 Cancer of Sigmoid|Cancer of the Sigmoid|Cancer, Sigmoid|Cancer, Sigmoid Colon|Colon Cancer, Sigmoid|Colon Neoplasms, Sigmoid|Neoplasm, Sigmoid|Neoplasm, Sigmoid Colon|Neoplasms, Sigmoid|Neoplasms, Sigmoid Colon|Sigmoidal Cancer|Sigmoid Cancer|Sigmoid Colon Cancer|Sigmoid Colon Neoplasm|Sigmoid Colon Neoplasms|Sigmoid Neoplasm Cancer|Digestive system disease Signs and Symptoms MESH:D012816 Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. MESH:D013568 C23.888 C23 Symptoms and Signs Signs and symptoms Signs and Symptoms, Digestive MESH:D012817 Digestive system manifestations of diseases of the gastrointestinal system or of other organs. MESH:D012816 C23.888.821 C23.888 Signs and symptoms Signs and Symptoms, Respiratory MESH:D012818 Respiratory system manifestations of diseases of the respiratory tract or of other organs. MESH:D012816 C23.888.852 C23.888 Signs and symptoms Silengo Lerone Pelizza syndrome MESH:C537336 MESH:D000015|MESH:D008831|MESH:D009896|MESH:D020739 C05.660.207.620/C537336|C10.228.140.163.100/C537336|C10.292.700.225/C537336|C10.500.507.400.500/C537336|C11.640.451/C537336|C16.131.077/C537336|C16.131.621.207.620/C537336|C16.131.666.507.400.500/C537336|C16.320.565.189/C537336|C18.452.132.100/C537336|C18.452.648.189/C537336 C05.660.207.620|C10.228.140.163.100|C10.292.700.225|C10.500.507.400.500|C11.640.451|C16.131.077|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.565.189|C18.452.132.100|C18.452.648.189 Congenital abnormality|Eye disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Silhouette sign MESH:C000721350 MESH:D013568 C23/C000721350 C23 Silicosiderosis MESH:C537337 MESH:D008175|MESH:D012829 C04.588.894.797.520/C537337|C08.381.483.581.760/C537337|C08.381.520.702.760/C537337|C08.381.540/C537337|C08.785.520/C537337|C24.800.834/C537337 C04.588.894.797.520|C08.381.483.581.760|C08.381.520.702.760|C08.381.540|C08.785.520|C24.800.834 Hematite pneumoconiosis|Iron miners lung Cancer|Occupational disease|Respiratory tract disease Silicosis MESH:D012829 DO:DOID:10325 A form of pneumoconiosis resulting from inhalation of dust containing crystalline form of SILICON DIOXIDE, usually in the form of quartz. Amorphous silica is relatively nontoxic. MESH:D011009 C08.381.483.581.760|C08.381.520.702.760|C24.800.834 C08.381.483.581|C08.381.520.702|C24.800 Silicoses Occupational disease|Respiratory tract disease Silicotuberculosis MESH:D012830 Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis. MESH:D012829|MESH:D014397 C01.150.252.410.040.552.846.899.669|C01.748.939.669|C08.381.483.581.760.750|C08.381.520.702.760.750|C08.381.922.669|C08.730.939.669|C24.800.834.752 C01.150.252.410.040.552.846.899|C01.748.939|C08.381.483.581.760|C08.381.520.702.760|C08.381.922|C08.730.939|C24.800.834 Silicotuberculoses Bacterial infection or mycosis|Occupational disease|Respiratory tract disease Sillence syndrome MESH:C537338 MESH:D059327 C05.660.585.262/C537338|C16.131.621.585.262/C537338 C05.660.585.262|C16.131.621.585.262 Brachydactyly-distal symphalangism syndrome Congenital abnormality|Musculoskeletal disease Silo Filler's Disease MESH:D012832 DO:DOID:4374 A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage. MESH:D000382|MESH:D000542 C08.381.483.125.682|C24.080.752 C08.381.483.125|C24.080 Disease, Silo Filler|Disease, Silo Filler's|Disease, Silo Fillers|Disease, Silo Fillers'|Silo Filler Disease|Silo Fillers Disease|Silo Fillers' Disease Occupational disease|Respiratory tract disease Silver-Russell Syndrome MESH:D056730 DO:DOID:14681|OMIM:180860|OMIM:616489 Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology. MESH:D000015|MESH:D004392|MESH:D019465|MESH:D025063 C05.660.207.925|C16.131.077.855|C16.131.260.870|C16.320.180.870|C16.320.240.937 C05.660.207|C16.131.077|C16.131.260|C16.320.180|C16.320.240 Dwarfism, Silver Russell|Dwarfism, Silver-Russell|GRDF|GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES|RSS|Russell Silver Syndrome|Russell-Silver Syndrome|Silver Russell Dwarfism|Silver-Russell Dwarfism|Silver Russell Syndrome|SILVER-RUSSELL SYNDROME 1|SILVER-RUSSELL SYNDROME 3|SRS1|SRS3|Syndrome, Russell Silver|Syndrome, Silver-Russell Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Simian Acquired Immunodeficiency Syndrome MESH:D016097 Acquired defect of cellular immunity that occurs naturally in macaques infected with SRV serotypes, experimentally in monkeys inoculated with SRV or MASON-PFIZER MONKEY VIRUS; (MPMV), or in monkeys infected with SIMIAN IMMUNODEFICIENCY VIRUS. MESH:D008992|MESH:D012897|MESH:D016180 C01.925.782.815.616.850|C01.925.839.850|C22.735.500.850 C01.925.782.815.616|C01.925.839|C22.735.500 AIDS, Simian|AIDSs, Simian|SAIDS|Simian Acquired Immune Deficiency Syndrome|Simian Acquired Immuno Deficiency Syndrome|Simian Acquired Immuno-Deficiency Syndrome|Simian AIDS|Simian AIDSs Animal disease|Viral disease Simosa cranio facial syndrome MESH:C537339 MESH:D019465 C05.660.207/C537339|C16.131.621.207/C537339 C05.660.207|C16.131.621.207 Simosa craniofacial syndrome Congenital abnormality|Musculoskeletal disease Simpson-Golabi-Behmel syndrome MESH:C537340 DO:DOID:0060248|OMIM:312870 MESH:D001145|MESH:D005877|MESH:D006330|MESH:D008607|MESH:D040181 C05.116.099.492/C537340|C05.116.132.479/C537340|C10.597.606.360/C537340|C14.240.400/C537340|C14.280.067/C537340|C14.280.400/C537340|C16.131.240.400/C537340|C16.320.322/C537340|C19.700.355.528/C537340|C23.550.073/C537340|C23.888.592.604.646/C537340|F03.625.539/C537340 C05.116.099.492|C05.116.132.479|C10.597.606.360|C14.240.400|C14.280.067|C14.280.400|C16.131.240.400|C16.320.322|C19.700.355.528|C23.550.073|C23.888.592.604.646|F03.625.539 Bulldog syndrome|DGSX|Dysplasia gigantism syndrome, X-linked|Golabi-Rosen syndrome|Mental Retardation-Overgrowth Syndrome|SDYS|SGBS|SGBS1|Simpson dysmorphia syndrome|Simpson Dysplasia Syndrome|Simpson-Golabi-Behmel Syndrome, Type 1|Simpson Syndrome Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Simpson-Golabi-Behmel Syndrome, Type 2 MESH:C564567 OMIM:300209 MESH:D000015|MESH:D040181 C16.131.077/C564567|C16.320.322/C564567 C16.131.077|C16.320.322 SGBS2 Congenital abnormality|Genetic disease (inborn) Singh Chhaparwal Dhanda syndrome MESH:C537341 MESH:D002386|MESH:D003456|MESH:D004392|MESH:D008607|MESH:D009759|MESH:D013285 C05.116.099.343/C537341|C10.292.562.675/C537341|C10.292.562.887/C537341|C10.597.606.360/C537341|C11.510.245/C537341|C11.590.400/C537341|C11.590.810/C537341|C12.100.500.829.258/C537341|C12.200.294.829.258/C537341|C12.200.706.258/C537341|C12.800.258/C537341|C16.131.939.258/C537341|C16.320.240/C537341|C19.297/C537341|C19.391.829.258/C537341|C23.888.592.604.646/C537341|F03.625.539/C537341 C05.116.099.343|C10.292.562.675|C10.292.562.887|C10.597.606.360|C11.510.245|C11.590.400|C11.590.810|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C16.131.939.258|C16.320.240|C19.297|C19.391.829.258|C23.888.592.604.646|F03.625.539 Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (male) Singleton Merten syndrome MESH:C537343 OMIM:182250 MESH:D001018|MESH:D003744|MESH:D009135|MESH:D010024|MESH:D018126|MESH:D061205 C05.116.198.579/C537343|C05.651/C537343|C07.650.800.295.625/C537343|C07.650.800.600/C537343|C07.793.700.295.625/C537343|C07.793.700.600/C537343|C10.668.491/C537343|C14.907.109/C537343|C16.131.850.800.295.625/C537343|C16.131.850.800.600/C537343|C18.452.104.579/C537343|C18.452.174.130.780/C537343 C05.116.198.579|C05.651|C07.650.800.295.625|C07.650.800.600|C07.793.700.295.625|C07.793.700.600|C10.668.491|C14.907.109|C16.131.850.800.295.625|C16.131.850.800.600|C18.452.104.579|C18.452.174.130.780 Merten-Singleton syndrome|SGMRT1|Singleton-Merten Syndrome|SINGLETON-MERTEN SYNDROME 1 Cardiovascular disease|Congenital abnormality|Metabolic disease|Mouth disease|Musculoskeletal disease|Nervous system disease Single Umbilical Artery MESH:D058529 Congenital abnormality where one, instead of the usual two, UMBILICAL ARTERY connects the fetus to the placenta. MESH:D054079 C14.240.850.976|C16.131.240.850.952 C14.240.850|C16.131.240.850 Single Umbilical Arteries|Two Vessel Cord|Two Vessel Cords|Umbilical Artery, Single Cardiovascular disease|Congenital abnormality Single upper central incisor MESH:C537342 OMIM:147250 MESH:D000848 C07.650.800.100/C537342|C07.793.700.100/C537342|C16.131.850.800.100/C537342 C07.650.800.100|C07.793.700.100|C16.131.850.800.100 Fused incisors|Incisors, Fused|Single central maxillary incisor|SINGLE CENTRAL MAXILLARY INCISOR SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME, INCLUDED|SINGLE UPPER CENTRAL INCISOR|SMMCI|SMMCI Solitary median maxillary central incisor|SMMCI Syndrome|SMMCI SYNDROME, INCLUDED|Solitary median maxillary central incisor|Solitary median maxillary central incisor syndrome Congenital abnormality|Mouth disease Sinistral Portal Hypertension MESH:D000094723 Portal hypertension of the SPLENIC VEIN due to occlusion caused by pancreatic pathology such as PANCREATIC PSEUDOCYST and PANCRATIC CANCER. Sinistral portal hypertension is associated with GASTRIC VARICES and acute HEMATEMESIS. MESH:D006975 C06.552.494.707 C06.552.494 Hypertension, Left-Sided Portal|Hypertension, Segmental Portal|Hypertension, Sinistral Portal|Left Sided Portal Hypertension|Left-Sided Portal Hypertension|Left-Sided Portal Hypertensions|Portal Hypertension, Left-Sided|Portal Hypertension, Segmental|Portal Hypertension, Sinistral|Segmental Portal Hypertension|Segmental Portal Hypertensions|Sinistral Portal Hypertensions Digestive system disease Sinoatrial Block MESH:D012848 Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the SINOATRIAL NODE to the HEART ATRIA. It is characterized by a delayed in heartbeat and pauses between P waves in an ELECTROCARDIOGRAM. MESH:D006327 C14.280.067.558.750|C14.280.123.500.750|C23.550.073.425.780 C14.280.067.558|C14.280.123.500|C23.550.073.425 Block, Sinoatrial|Block, Sinoatrial Exit|Blocks, Sinoatrial|Blocks, Sinoatrial Exit|Exit Block, Sinoatrial|Exit Blocks, Sinoatrial|Sinoatrial Blocks|Sinoatrial Exit Block|Sinoatrial Exit Blocks Cardiovascular disease|Pathology (process) Sinonasal undifferentiated carcinoma MESH:C537344 DO:DOID:0080799 MESH:D002277|MESH:D008444 C04.557.470.200/C537344|C04.588.443.665.650.693.575/C537344|C08.460.669.693.575/C537344|C08.460.692.503.503/C537344|C08.785.600.693.575/C537344|C09.603.669.693.575/C537344|C09.603.692.503.503/C537344|C09.647.685.693.575/C537344 C04.557.470.200|C04.588.443.665.650.693.575|C08.460.669.693.575|C08.460.692.503.503|C08.785.600.693.575|C09.603.669.693.575|C09.603.692.503.503|C09.647.685.693.575 Cancer|Ear-nose-throat disease|Respiratory tract disease Sinus Arrest, Cardiac MESH:D054138 The omission of atrial activation that is caused by transient cessation of impulse generation at the SINOATRIAL NODE. It is characterized by a prolonged pause without P wave in an ELECTROCARDIOGRAM. Sinus arrest has been associated with sleep apnea (REM SLEEP-RELATED SINUS ARREST). MESH:D001146 C14.280.067.093.500|C23.550.073.093.500 C14.280.067.093|C23.550.073.093 Cardiac Sinus Arrest|Cardiac Sinus Arrests|Cardiac Sinus Pause|Cardiac Sinus Pauses|Sinus Arrests, Cardiac|Sinus Pause, Cardiac|Sinus Pauses, Cardiac Cardiovascular disease|Pathology (process) Sinusitis MESH:D012852 Inflammation of the NASAL MUCOSA in one or more of the PARANASAL SINUSES. MESH:D010254|MESH:D012141 C01.748.749|C08.460.692.752|C08.730.749|C09.603.692.752 C01.748|C08.460.692|C08.730|C09.603.692 Infection, Sinus|Infections, Sinus|Sinus Infection|Sinus Infections|Sinusitides Ear-nose-throat disease|Respiratory tract disease Sinus Node Disease and Myopia MESH:C566690 MESH:D009216|MESH:D012804 C11.744.636/C566690|C14.280.067.093.249/C566690|C14.280.067.558.536/C566690|C14.280.123.500.536/C566690|C23.550.073.093.249/C566690|C23.550.073.425.440/C566690 C11.744.636|C14.280.067.093.249|C14.280.067.558.536|C14.280.123.500.536|C23.550.073.093.249|C23.550.073.425.440 Sick Sinus Syndrome and Myopia|SSS-Myopia Syndrome Cardiovascular disease|Eye disease|Pathology (process) Sinus Pericranii MESH:D020779 Rare vascular anomaly involving a communication between the intracranial and extracranial venous circulation via diploe, the central spongy layer of cranial bone. It is often characterized by dilated venous structures on the scalp due to abnormal drainage from the intracranial venous sinuses. Sinus pericranii can be congenital or traumatic in origin. MESH:D020785 C10.500.190.800|C14.240.850.875.750|C16.131.666.190.800 C10.500.190|C14.240.850.875|C16.131.666.190 Cardiovascular disease|Congenital abnormality|Nervous system disease Sinus Tarsi Syndrome MESH:C000604661 MESH:D005534 C05.360/C000604661|C17.800.321/C000604661 C05.360|C17.800.321 Musculoskeletal disease|Skin disease Sinus Thrombosis, Intracranial MESH:D012851 DO:DOID:3572 Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects. MESH:D020767 C10.228.140.300.525.425.500|C14.907.253.566.350.500|C14.907.355.590.213.350.500 C10.228.140.300.525.425|C14.907.253.566.350|C14.907.355.590.213.350 Cranial Sinus Thromboses|Cranial Sinus Thrombosis|Intracranial Sinus Thrombophlebitides|Intracranial Sinus Thrombophlebitis|Intracranial Sinus Thromboses|Intracranial Sinus Thrombosis|Petrous Sinus Thrombophlebitides|Petrous Sinus Thrombophlebitis|Petrous Sinus Thromboses|Petrous Sinus Thrombosis|Sinus Thrombophlebitides, Intracranial|Sinus Thrombophlebitides, Petrous|Sinus Thrombophlebitis, Intracranial|Sinus Thrombophlebitis, Petrous|Sinus Thromboses|Sinus Thromboses, Cranial|Sinus Thromboses, Intracranial|Sinus Thromboses, Petrous|Sinus Thrombosis|Sinus Thrombosis, Cranial|Sinus Thrombosis, Petrous|Thrombophlebitides, Intracranial Sinus|Thrombophlebitides, Petrous Sinus|Thrombophlebitis, Intracranial Sinus|Thrombophlebitis, Petrous Sinus|Thromboses, Cranial Sinus|Thromboses, Intracranial Sinus|Thromboses, Petrous Sinus|Thromboses, Sinus|Thrombosis, Cranial Sinus|Thrombosis, Intracranial Sinus|Thrombosis, Petrous Sinus|Thrombosis, Sinus|Venous Sinus Thrombosis, Cranial Cardiovascular disease|Nervous system disease Sister Mary Joseph's Nodule MESH:D058288 Metastatic lesion of the UMBILICUS associated with intra-abdominal neoplasms especially of the GASTROINTESTINAL TRACT or OVARY. MESH:D000008 C04.588.033.740 C04.588.033 Nodule, Sister Joseph's|Nodules, Sister Joseph's|Sister Joseph Nodule|Sister Joseph's Nodule|Sister Josephs Nodule|Sister Joseph's Nodules Cancer Sitosterolemia MESH:C537345 DO:DOID:0090019|OMIM:210250 MESH:D006937|MESH:D007410|MESH:D008052 C06.405.469/C537345|C16.320.565.398/C537345|C18.452.584.500.500.396/C537345|C18.452.584.563/C537345|C18.452.648.398/C537345 C06.405.469|C16.320.565.398|C18.452.584.500.500.396|C18.452.584.563|C18.452.648.398 Macrothrombocytopenia-Stomatocytosis, Mediterranean|Phytosterolemia|PHYTOSTEROLEMIA MACROTHROMBOCYTOPENIA/STOMATOCYTOSIS, MEDITERRANEAN, INCLUDED|Plant sterol storage disease|Pseudohomozygous familial hypercholesterolemia|SITOSTEROLEMIA 1|STSL|STSL1 Digestive system disease|Genetic disease (inborn)|Metabolic disease Situs Inversus MESH:D012857 DO:DOID:758 A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins. MESH:D000013 C16.131.810 C16.131 Inversus, Situs|Situs Inversus Viscerum Congenital abnormality Situs inversus totalis with cystic dysplasia of kidneys and pancreas MESH:C536666 MESH:D010009|MESH:D012857|MESH:D052177 C05.116.099.708/C536666|C12.050.351.968.419.403/C536666|C12.200.777.419.403/C536666|C12.950.419.403/C536666|C16.131.810/C536666|C16.320.728/C536666 C05.116.099.708|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.810|C16.320.728 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Sjogren-Larsson-like syndrome MESH:C536668 MESH:D016111 C16.131.831.512.723/C536668|C16.320.565.398.641.723/C536668|C16.320.850.820/C536668|C16.614.492.723/C536668|C17.800.428.333.723/C536668|C17.800.804.512.723/C536668|C17.800.827.820/C536668|C18.452.584.563.641.723/C536668|C18.452.648.398.641.723/C536668 C16.131.831.512.723|C16.320.565.398.641.723|C16.320.850.820|C16.614.492.723|C17.800.428.333.723|C17.800.804.512.723|C17.800.827.820|C18.452.584.563.641.723|C18.452.648.398.641.723 Ichthyosis, Sjogren-Larsson-Like, Without CNS Or Eye Involvement|Sjogren-Larsson-like ichthyosis without CNS or eye involvement Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease Sjogren-Larsson Syndrome MESH:D016111 DO:DOID:14501|OMIM:270200 An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism. MESH:D007057|MESH:D008064|MESH:D012873 C16.131.831.512.723|C16.320.565.398.641.723|C16.320.850.820|C16.614.492.723|C17.800.428.333.723|C17.800.804.512.723|C17.800.827.820|C18.452.584.563.641.723|C18.452.648.398.641.723 C16.131.831.512|C16.320.565.398.641|C16.320.850|C16.614.492|C17.800.428.333|C17.800.804.512|C17.800.827|C18.452.584.563.641|C18.452.648.398.641 Congenital Icthyosis Mental Retardation Spasticity Syndrome|FALDH Deficiency|Fatty Alcohol:NAD+ Oxidoreductase Deficiency|Fatty Aldehyde Dehydrogenase Deficiency|Fatty Aldehyde Dehydrogenase Deficiency Disease|Ichthyosis Oligophrenia Syndrome|Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia|Sjogren Larsson Syndrome|Sjögren-Larsson Syndrome|SLS Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease Sjögren-Mikulicz syndrome MESH:C536669 MESH:D001172|MESH:D010309 C05.550.114.154/C536669|C05.799.114/C536669|C07.465.815.470.800/C536669|C07.465.815.793.500/C536669|C17.300.775.099/C536669|C20.111.199/C536669 C05.550.114.154|C05.799.114|C07.465.815.470.800|C07.465.815.793.500|C17.300.775.099|C20.111.199 Sjogren-Mikulicz syndrome Connective tissue disease|Immune system disease|Mouth disease|Musculoskeletal disease Sjogren's Syndrome MESH:D012859 DO:DOID:12894|OMIM:270150 Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis. MESH:D001172|MESH:D014987|MESH:D015352 C05.550.114.154.774|C05.799.114.774|C07.465.815.929.669|C11.496.260.719|C17.300.775.099.774|C20.111.199.774 C05.550.114.154|C05.799.114|C07.465.815.929|C11.496.260|C17.300.775.099|C20.111.199 Sicca Syndrome|Sjogrens Syndrome|Sjogren Syndrome|Syndrome, Sicca|Syndrome, Sjogren's Connective tissue disease|Eye disease|Immune system disease|Mouth disease|Musculoskeletal disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation MESH:C567306 OMIM:612447 MESH:D001848|MESH:D003456|MESH:D008607 C05.116.099/C567306|C10.597.606.360/C567306|C12.100.500.829.258/C567306|C12.200.294.829.258/C567306|C12.200.706.258/C567306|C12.800.258/C567306|C16.131.939.258/C567306|C19.391.829.258/C567306|C23.888.592.604.646/C567306|F03.625.539/C567306 C05.116.099|C10.597.606.360|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C16.131.939.258|C19.391.829.258|C23.888.592.604.646|F03.625.539 SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT|SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION Congenital abnormality|Endocrine system disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (male) Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal MESH:C566514 MESH:D001848|MESH:D002493|MESH:D009410 C05.116.099/C566514|C10.228/C566514|C23.550.737/C566514 C05.116.099|C10.228|C23.550.737 Musculoskeletal disease|Nervous system disease|Pathology (process) Skeletal dysplasia coarse facies mental retardation MESH:C536671 MESH:D008607|MESH:D010009|MESH:D040181 C05.116.099.708/C536671|C10.597.606.360/C536671|C16.320.322/C536671|C16.320.728/C536671|C23.888.592.604.646/C536671|F03.625.539/C536671 C05.116.099.708|C10.597.606.360|C16.320.322|C16.320.728|C23.888.592.604.646|F03.625.539 Leukoencephalopathy With Metaphyseal Chondrodysplasia|Lkmcd|Spondyloepimetaphyseal dysplasia X-linked with mental deterioration|Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa MESH:C563806 MESH:D001848|MESH:D012174 C05.116.099/C563806|C11.270.684/C563806|C11.768.585.658.500/C563806|C16.320.290.684/C563806 C05.116.099|C11.270.684|C11.768.585.658.500|C16.320.290.684 Eye disease|Genetic disease (inborn)|Musculoskeletal disease Skeletal dysplasia, San Diego type MESH:C536670 MESH:D003398|MESH:D013796 C05.116.099.343.110.500/C536670|C05.116.099.370.894.232/C536670|C05.116.099.708.017.500/C536670|C05.660.207.240/C536670|C05.660.585.984/C536670|C05.660.906.364/C536670|C16.131.621.207.240/C536670|C16.131.621.585.984/C536670|C16.131.621.906.364/C536670|C16.320.240.500.500/C536670|C16.614.890/C536670 C05.116.099.343.110.500|C05.116.099.370.894.232|C05.116.099.708.017.500|C05.660.207.240|C05.660.585.984|C05.660.906.364|C16.131.621.207.240|C16.131.621.585.984|C16.131.621.906.364|C16.320.240.500.500|C16.614.890 Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification MESH:C566687 MESH:D001848 C05.116.099/C566687 C05.116.099 Musculoskeletal disease Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris MESH:C564819 MESH:D011038 C16.131.831.775/C564819|C16.320.850.765/C564819|C16.614.760/C564819|C17.800.804.775/C564819|C17.800.827.775/C564819|C18.452.284.760/C564819 C16.131.831.775|C16.320.850.765|C16.614.760|C17.800.804.775|C17.800.827.775|C18.452.284.760 Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease Skin Abnormalities MESH:D012868 Congenital structural abnormalities of the skin. MESH:D000013|MESH:D012871 C16.131.831|C17.800.804 C16.131|C17.800 Abnormalities, Skin|Abnormality, Skin|Skin Abnormality Congenital abnormality|Skin disease Skin and Connective Tissue Diseases MESH:D017437 A collective term for diseases of the skin and its appendages and of connective tissue. MESH:C C17 C Skin Diseases MESH:D012871 DO:DOID:37 Diseases involving the DERMIS or EPIDERMIS. MESH:D017437 C17.800 C17 Dermatoses|Dermatosis|Skin and Subcutaneous Tissue Disorders|Skin Disease Skin disease Skin Diseases, Bacterial MESH:D017192 Skin diseases caused by bacteria. MESH:D001424|MESH:D012874 C01.150.252.819|C01.800.720|C17.800.838.765 C01.150.252|C01.800|C17.800.838 Bacterial Skin Disease|Bacterial Skin Diseases|Disease, Bacterial Skin|Skin Disease, Bacterial Bacterial infection or mycosis|Skin disease Skin Diseases, Eczematous MESH:D017443 Any of a variety of eruptive skin disorders characterized by erythema, oozing, vesiculation, and scaling. Etiology is varied. MESH:D012871 C17.800.815 C17.800 Disease, Eczematous Skin|Diseases, Eczematous Skin|Disorder, Eczematous|Disorders, Eczematous|Eczematous Disorder|Eczematous Disorders|Eczematous Skin Disease|Eczematous Skin Diseases|Skin Disease, Eczematous Skin disease Skin Diseases, Genetic MESH:D012873 DO:DOID:37 Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. MESH:D012871|MESH:D030342 C16.320.850|C17.800.827 C16.320|C17.800 Disease, Genetic Skin|Diseases, Genetic Skin|Genetic Skin Disease|Genetic Skin Diseases|Skin Disease, Genetic Genetic disease (inborn)|Skin disease Skin Diseases, Infectious MESH:D012874 Skin diseases caused by bacteria, fungi, parasites, or viruses. MESH:D007239|MESH:D012871 C01.800|C17.800.838 C01|C17.800 Disease, Infectious Skin|Diseases, Infectious Skin|Infectious Skin Disease|Infectious Skin Diseases|Skin Disease, Infectious Skin disease Skin Diseases, Metabolic MESH:D012875 Diseases of the skin associated with underlying metabolic disorders. MESH:D008659|MESH:D012871 C17.800.849|C18.452.880 C17.800|C18.452 Disease, Metabolic Skin|Diseases, Metabolic Skin|Metabolic Skin Disease|Metabolic Skin Diseases|Skin Disease, Metabolic Metabolic disease|Skin disease Skin Diseases, Papulosquamous MESH:D017444 A group of dermatoses with distinct morphologic features. The primary lesion is most commonly a papule, usually erythematous, with a variable degree of scaling on the surface. Plaques form through the coalescing of primary lesions. MESH:D012871 C17.800.859 C17.800 Disease, Papulosquamous Skin|Diseases, Papulosquamous Skin|Disorder, Papulosquamous|Disorders, Papulosquamous|Papulosquamous Disorder|Papulosquamous Disorders|Papulosquamous Skin Disease|Papulosquamous Skin Diseases|Skin Disease, Papulosquamous Skin disease Skin Diseases, Parasitic MESH:D012876 Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites. MESH:D010272|MESH:D012874 C01.610.858|C17.800.838.775 C01.610|C17.800.838 Disease, Parasitic Skin|Diseases, Parasitic Skin|Parasitic Skin Disease|Parasitic Skin Diseases|Skin Disease, Parasitic Parasitic disease|Skin disease Skin Diseases, Vascular MESH:D017445 DO:DOID:9540 Skin diseases affecting or involving the cutaneous blood vessels and generally manifested as inflammation, swelling, erythema, or necrosis in the affected area. MESH:D012871 C17.800.862 C17.800 Cutaneous Vasculitides|Cutaneous Vasculitis|Skin Disease, Vascular|Vascular Skin Disease|Vascular Skin Diseases|Vasculitis, Cutaneous Skin disease Skin Diseases, Vesiculobullous MESH:D012872 DO:DOID:2731|DO:DOID:8508 Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) MESH:D012871 C17.800.865 C17.800 Bullous Dermatoses|Bullous Skin Disease|Bullous Skin Diseases|Dermatoses, Bullous|Dermatoses, Subcorneal Pustular|Dermatoses, Vesiculobullous|Dermatosis, Subcorneal Pustular|Pustular Dermatoses, Subcorneal|Pustular Dermatosis, Subcorneal|Skin Disease, Bullous|Skin Diseases, Bullous|Skin Diseases, Vesicular|Skin Disease, Vesicular|Skin Disease, Vesiculobullous|Sneddon Wilkinson Disease|Sneddon-Wilkinson Disease|Subcorneal Pustular Dermatoses|Subcorneal Pustular Dermatosis|Vesicular Skin Disease|Vesicular Skin Diseases|Vesiculobullous Dermatoses|Vesiculobullous Skin Disease|Vesiculobullous Skin Diseases Skin disease Skin Diseases, Viral MESH:D017193 Skin diseases caused by viruses. MESH:D012874|MESH:D014777 C01.925.825|C17.800.838.790 C01.925|C17.800.838 Diseases, Viral Skin|Disease, Viral Skin|Skin Disease, Viral|Viral Skin Disease|Viral Skin Diseases Skin disease|Viral disease Skin Fragility-Woolly Hair Syndrome MESH:C564359 MESH:D006201|MESH:D012873 C16.320.850/C564359|C17.800.329/C564359|C17.800.827/C564359 C16.320.850|C17.800.329|C17.800.827 Genetic disease (inborn)|Skin disease Skin-Hair-Eye Pigmentation, Variation In, 10 MESH:C567376 MESH:D010859|MESH:D012868 C16.131.831/C567376|C17.800.621/C567376|C17.800.804/C567376|C23.550.755/C567376 C16.131.831|C17.800.621|C17.800.804|C23.550.755 SHEP10|Skin-Hair-Eye Pigmentation 10, Blond-Brown Hair Congenital abnormality|Pathology (process)|Skin disease Skin-Hair-Eye Pigmentation, Variation In, 11 MESH:C567374 MESH:D010859|MESH:D012868 C16.131.831/C567374|C17.800.621/C567374|C17.800.804/C567374|C23.550.755/C567374 C16.131.831|C17.800.621|C17.800.804|C23.550.755 SHEP11|Skin-Hair-Eye Pigmentation 11, Blue-Nonblue Eyes Congenital abnormality|Pathology (process)|Skin disease Skin-Hair-Eye Pigmentation, Variation In, 4 MESH:C567300 OMIM:113750 MESH:D010859|MESH:D012868 C16.131.831/C567300|C17.800.621/C567300|C17.800.804/C567300|C23.550.755/C567300 C16.131.831|C17.800.621|C17.800.804|C23.550.755 ALBINISM, OCULOCUTANEOUS, TYPE VI|OCA6|Shep4|SHEP4,|SHEP4, INCLUDED|Skin-Hair-Eye Pigmentation 4, Fair-Dark Skin|SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN, INCLUDED|SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4, INCLUDED Congenital abnormality|Pathology (process)|Skin disease Skin-Hair-Eye Pigmentation, Variation In, 5 MESH:C567119 MESH:D010859|MESH:D012868 C16.131.831/C567119|C17.800.621/C567119|C17.800.804/C567119|C23.550.755/C567119 C16.131.831|C17.800.621|C17.800.804|C23.550.755 Shep5|Skin-Hair-Eye Pigmentation 5, Black-Nonblack Hair|Skin-Hair-Eye Pigmentation 5, Dark-Fair Skin|Skin-Hair-Eye Pigmentation 5, Dark-Light Eyes Congenital abnormality|Pathology (process)|Skin disease Skin-Hair-Eye Pigmentation, Variation In, 6 MESH:C567139 MESH:D010859|MESH:D012868 C16.131.831/C567139|C17.800.621/C567139|C17.800.804/C567139|C23.550.755/C567139 C16.131.831|C17.800.621|C17.800.804|C23.550.755 Shep6|Skin-Hair-Eye Pigmentation 6, Blond-Brown Hair|Skin-Hair-Eye Pigmentation 6, Blue-Green Eyes Congenital abnormality|Pathology (process)|Skin disease Skin-Hair-Eye Pigmentation, Variation In, 7 MESH:C567155 MESH:D010859|MESH:D012868 C16.131.831/C567155|C17.800.621/C567155|C17.800.804/C567155|C23.550.755/C567155 C16.131.831|C17.800.621|C17.800.804|C23.550.755 Shep7|Skin-Hair-Eye Pigmentation 7, Blond-Brown Hair|Skin-Hair-Eye Pigmentation 7, Dark-Light Skin Congenital abnormality|Pathology (process)|Skin disease Skin-Hair-Eye Pigmentation, Variation In, 8 MESH:C567096 MESH:D010859|MESH:D012868 C16.131.831/C567096|C17.800.621/C567096|C17.800.804/C567096|C23.550.755/C567096 C16.131.831|C17.800.621|C17.800.804|C23.550.755 Shep8|Skin-Hair-Eye Pigmentation 8, Freckling Congenital abnormality|Pathology (process)|Skin disease Skin-Hair-Eye Pigmentation, Variation In, 9 MESH:C567091 MESH:D010859|MESH:D012868 C16.131.831/C567091|C17.800.621/C567091|C17.800.804/C567091|C23.550.755/C567091 C16.131.831|C17.800.621|C17.800.804|C23.550.755 Shep9|Skin-Hair-Eye Pigmentation 9, Brown-Nonbrown Eyes|Skin-Hair-Eye Pigmentation 9, Dark-Light Hair|Skin-Hair-Eye Pigmentation 9, Freckling And Burning|Skin-Hair-Eye Pigmentation 9, Red-Nonred Hair Congenital abnormality|Pathology (process)|Skin disease Skin Manifestations MESH:D012877 Dermatologic disorders attendant upon non-dermatologic disease or injury. MESH:D012816 C23.888.885 C23.888 Manifestation, Skin|Manifestations, Skin|Skin Manifestation Signs and symptoms Skin Neoplasms MESH:D012878 DO:DOID:3165|DO:DOID:4159 Tumors or cancer of the SKIN. MESH:D009371|MESH:D012871 C04.588.805|C17.800.882 C04.588|C17.800 Cancer of Skin|Cancer of the Skin|Cancer, Skin|Cancers, Skin|Neoplasm, Skin|Neoplasms, Skin|Skin Cancer|Skin Cancers|Skin Neoplasm Cancer|Skin disease Skin Ulcer MESH:D012883 An ULCER of the skin and underlying tissues. MESH:D012871 C17.800.893 C17.800 Skin Ulcers|Ulcer, Skin|Ulcers, Skin Skin disease Skull Base Neoplasms MESH:D019292 DO:DOID:3842 Neoplasms of the base of the skull specifically, differentiated from neoplasms of unspecified sites or bones of the skull (SKULL NEOPLASMS). MESH:D012888 C04.588.149.721.828|C05.116.231.754.829 C04.588.149.721|C05.116.231.754 Neoplasm, Skull Base|Neoplasms, Skull Base|Skull Base Neoplasm Cancer|Musculoskeletal disease Skull Fracture, Basilar MESH:D020205 Fractures which extend through the base of the SKULL, usually involving the PETROUS BONE. Battle's sign (characterized by skin discoloration due to extravasation of blood into the subcutaneous tissue behind the ear and over the mastoid process), CRANIAL NEUROPATHIES, TRAUMATIC; CAROTID-CAVERNOUS SINUS FISTULA; and CEREBROSPINAL FLUID OTORRHEA are relatively frequent sequelae of this condition. (Adams et al., Principles of Neurology, 6th ed, p876) MESH:D012887 C10.900.300.918.150|C26.404.750.821|C26.915.300.745.300 C10.900.300.918|C26.404.750|C26.915.300.745 Basilar Skull Fracture|Basilar Skull Fractures|Battle Sign|Battle's Sign|Battles Sign|Fracture, Basilar Skull|Fracture, Frontobasilar Skull|Fractures, Basilar Skull|Fractures, Frontobasilar Skull|Frontobasilar Skull Fracture|Frontobasilar Skull Fractures|Sign, Battle|Sign, Battle's|Skull Fracture, Basilar, Childhood|Skull Fracture, Frontobasilar|Skull Fractures, Basilar|Skull Fractures, Frontobasilar|Skull Fracture, Transphenoid Basilar Nervous system disease|Wounds and injuries Skull Fracture, Depressed MESH:D020204 A skull fracture characterized by inward depression of a fragment or section of cranial bone, often compressing the underlying dura mater and brain. Depressed cranial fractures which feature open skin wounds that communicate with skull fragments are referred to as compound depressed skull fractures. MESH:D012887 C10.900.300.918.300|C26.404.750.890|C26.915.300.745.350 C10.900.300.918|C26.404.750|C26.915.300.745 Compound Depressed Skull Fracture|Compound Depressed Skull Fractures|Depressed Skull Fracture|Depressed Skull Fractures|Fracture, Depressed Skull|Fractures, Depressed Skull|Skull Fracture, Compound Depressed|Skull Fractures, Compound Depressed|Skull Fractures, Depressed Nervous system disease|Wounds and injuries Skull Fractures MESH:D012887 Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED). MESH:D006259|MESH:D050723 C10.900.300.918|C26.404.750|C26.915.300.745 C10.900.300|C26.404|C26.915.300 Fracture, Non-Depressed Skull|Fracture, Skull|Fractures, Linear Skull|Fractures, Non-Depressed Skull|Fractures, Skull|Linear Skull Fracture|Linear Skull Fractures|Non Depressed Skull Fracture|Non-Depressed Skull Fracture|Non-Depressed Skull Fractures|Skull Fracture|Skull Fracture, Linear|Skull Fracture, Non Depressed|Skull Fracture, Non-Depressed|Skull Fractures, Linear|Skull Fractures, Non-Depressed Nervous system disease|Wounds and injuries Skull Neoplasms MESH:D012888 DO:DOID:1863 Neoplasms of the bony part of the skull. MESH:D001859 C04.588.149.721|C05.116.231.754 C04.588.149|C05.116.231 Neoplasm, Skull|Neoplasms, Skull|Skull Neoplasm Cancer|Musculoskeletal disease Slavotinek Pike Mills Hurst syndrome MESH:C536672 MESH:D002386|MESH:D006130|MESH:D007859 C10.597.606.150.550/C536672|C11.510.245/C536672|C23.550.393/C536672|C23.888.592.604.150.550/C536672|F03.625.562/C536672 C10.597.606.150.550|C11.510.245|C23.550.393|C23.888.592.604.150.550|F03.625.562 Eye disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Sleep Apnea, Central MESH:D020182 DO:DOID:9220 A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of efforts to breathe. This disorder is associated with dysfunction of central nervous system centers that regulate respiration. MESH:D012891 C08.618.085.852.800|C10.886.425.800.750.800 C08.618.085.852|C10.886.425.800.750 Alveolar Hypoventilation, Central|Alveolar Hypoventilations, Central|Apnea, Central|Apnea, Central Sleep|Apneas, Central|Apneas, Central Sleep|Apnea, Sleep, Central|Breathing, Central Sleep-Disordered|Breathings, Central Sleep-Disordered|Central Alveolar Hypoventilation|Central Alveolar Hypoventilation Syndrome|Central Apnea|Central Apneas|Central Sleep Apnea|Central Sleep Apnea, Primary|Central Sleep Apneas|Central Sleep Apnea, Secondary|Central Sleep Apnea Syndrome|Central Sleep Disordered Breathing|Central Sleep-Disordered Breathing|Central Sleep-Disordered Breathings|Hypoventilation, Central Alveolar|Hypoventilations, Central Alveolar|Newborn Primary Sleep Apneas|Ondine Syndrome|Primary Central Sleep Apnea|Primary Sleep Apneas of Newborn|Secondary Central Sleep Apnea|Sleep Apnea, Lethal Central|Sleep Apnea, Newborn, Primary|Sleep Apneas, Central|Sleep Disordered Breathing, Central|Sleep-Disordered Breathing, Central|Sleep-Disordered Breathings, Central Nervous system disease|Respiratory tract disease Sleep Apnea, Obstructive MESH:D020181 DO:DOID:0050848 A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395) MESH:D012891 C08.618.085.852.850|C10.886.425.800.750.850 C08.618.085.852|C10.886.425.800.750 Apnea, Obstructive Sleep|Apneas, Obstructive Sleep|Obstructive Sleep Apnea|Obstructive Sleep Apneas|Obstructive Sleep Apnea Syndrome|OSAHS|Sleep Apnea Hypopnea Syndrome|Sleep Apneas, Obstructive|Sleep Apnea Syndrome, Obstructive|Syndrome, Obstructive Sleep Apnea|Syndrome, Sleep Apnea, Obstructive|Syndrome, Upper Airway Resistance, Sleep Apnea|Upper Airway Resistance Sleep Apnea Syndrome Nervous system disease|Respiratory tract disease Sleep Apnea Syndromes MESH:D012891 DO:DOID:0050847|DO:DOID:0080302 Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types. MESH:D001049|MESH:D020919 C08.618.085.852|C10.886.425.800.750 C08.618.085|C10.886.425.800 Apnea, Sleep|Apneas, Sleep|Apnea Syndrome, Sleep|Apnea Syndromes, Sleep|Breathing, Sleep-Disordered|Hypersomnia with Periodic Respiration|Hypopnea, Sleep|Hypopneas, Sleep|Mixed Central and Obstructive Sleep Apnea|Mixed Sleep Apnea|Mixed Sleep Apneas|Sleep Apnea|Sleep Apnea, Mixed|Sleep Apnea, Mixed Central and Obstructive|Sleep Apneas|Sleep Apneas, Mixed|Sleep Apnea Syndrome|Sleep Disordered Breathing|Sleep-Disordered Breathing|Sleep Hypopnea|Sleep Hypopneas Nervous system disease|Respiratory tract disease Sleep Arousal Disorders MESH:D020921 Sleep disorders characterized by impaired arousal from the deeper stages of sleep (generally stage III or IV sleep). MESH:D020447 C10.886.659.635|F03.870.664.635 C10.886.659|F03.870.664 Arousal, Confusional|Arousal Disorder, Sleep|Arousal Disorders, Sleep|Arousals, Confusional|Confusional Arousal|Confusional Arousals|Sleep Arousal Disorder Mental disorder|Nervous system disease Sleep Bruxism MESH:D020186 DO:DOID:2846 A sleep disorder characterized by grinding and clenching of the teeth and forceful lateral or protrusive jaw movements. Sleep bruxism may be associated with TOOTH INJURIES; TEMPOROMANDIBULAR JOINT DISORDERS; sleep disturbances; and other conditions. MESH:D002012|MESH:D020447 C07.793.099.500|C10.886.659.637|F03.870.664.637 C07.793.099|C10.886.659|F03.870.664 Adult Sleep Bruxism|Adult Sleep Bruxisms|Bruxism, Nocturnal|Bruxism, Sleep|Bruxism, Sleep-Related|Bruxisms, Nocturnal|Bruxisms, Sleep|Bruxisms, Sleep-Related|Childhood Sleep Bruxism|Childhood Sleep Bruxisms|Nocturnal Bruxism|Nocturnal Bruxisms|Nocturnal Teeth Grinding Disorder|Sleep Bruxism, Adult|Sleep Bruxism, Childhood|Sleep Bruxisms|Sleep Bruxisms, Adult|Sleep Bruxisms, Childhood|Sleep Related Bruxism|Sleep-Related Bruxism|Sleep-Related Bruxisms|Teeth Grinding Disorder, Nocturnal Mental disorder|Mouth disease|Nervous system disease Sleep Deprivation MESH:D012892 The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder. MESH:D012893|MESH:D020920 C10.886.425.175|C23.888.592.796.772|F03.870.400.099 C10.886.425|C23.888.592.796|F03.870.400 Deprivation, REM Sleep|Deprivation, Sleep|Fragmentation, Sleep|Inadequate Sleep|Insufficiencies, Sleep|Insufficiency, Sleep|Insufficient Sleep|Insufficient Sleep Syndrome|Insufficient Sleep Syndromes|REM Sleep Deprivation|Sleep Debt|Sleep Deprivation, REM|Sleep Fragmentation|Sleep, Inadequate|Sleep Insufficiencies|Sleep Insufficiency|Sleep, Insufficient|Syndrome, Insufficient Sleep Mental disorder|Nervous system disease|Signs and symptoms Sleep Disorders, Circadian Rhythm MESH:D020178 OMIM:614163 Dyssomnias associated with disruption of the normal 24 hour sleep wake cycle secondary to travel (e.g., JET LAG SYNDROME), shift work, or other causes. MESH:D009784|MESH:D020920|MESH:D021081 C10.281.800|C10.886.425.200|C24.900|F03.870.400.200 C10.281|C10.886.425|C24|F03.870.400 Advanced Sleep Phase Syndrome|Circadian Rhythm Sleep Disorder|Circadian Rhythm Sleep Disorders|DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO|Delayed Sleep Phase Syndrome|Delayed Sleep-Phase Syndrome|Delayed Sleep-Phase Syndromes|Disturbed Nyctohemeral Rhythm|Disturbed Nyctohemeral Rhythms|DSPD|Non 24 Hour Sleep Wake Disorder|Non-24 Hour Sleep-Wake Disorder|Nonorganic Sleep Wake Cycle Disorder|Nonorganic Sleep Wake Cycle Disorders|Nyctohemeral Rhythm, Disturbed|Nyctohemeral Rhythms, Disturbed|Shift Work Sleep Disorder|Shift-Work Sleep Disorder|Shift-Work Sleep Disorders|Sleep Disorder, Shift Work|Sleep Disorder, Shift-Work|Sleep Disorders, Shift-Work|Sleep Wake Cycle Disorder|Sleep-Wake Cycle Disorder|Sleep Wake Cycle Disorders|Sleep-Wake Cycle Disorders|Sleep Wake Disorder, Non 24 Hour|Sleep-Wake Disorder, Non-24 Hour|Sleep Wake Schedule Disorder|Sleep-Wake Schedule Disorder|Sleep Wake Schedule Disorders|Sleep-Wake Schedule Disorders Mental disorder|Nervous system disease|Occupational disease Sleep Disorders, Intrinsic MESH:D020919 Dyssomnias (i.e., insomnias or hypersomnias) associated with dysfunction of internal sleep mechanisms or secondary to a sleep-related medical disorder (e.g., sleep apnea, post-traumatic sleep disorders, etc.). (From Thorpy, Sleep Disorders Medicine, 1994, p187) MESH:D020920 C10.886.425.800|F03.870.400.800 C10.886.425|F03.870.400 Hypersomnia, Posttraumatic|Hypersomnia, Post Traumatic|Hypersomnia, Post-Traumatic|Hypersomnias, Posttraumatic|Hypersomnias, Post-Traumatic|Intrinsic Sleep Disorder|Intrinsic Sleep Disorders|Posttraumatic Hypersomnia|Post-Traumatic Hypersomnia|Posttraumatic Hypersomnias|Post-Traumatic Hypersomnias|Sleep Disorder, Intrinsic|Sleep State Misperception|Sleep State Misperceptions Mental disorder|Nervous system disease Sleepiness MESH:D000077260 Compelling urge to sleep. MESH:D012816 C23.888.900 C23.888 Somnolence Signs and symptoms Sleep Initiation and Maintenance Disorders MESH:D007319 Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition. MESH:D020919 C10.886.425.800.800|F03.870.400.800.800 C10.886.425.800|F03.870.400.800 Awakening, Early|Chronic Insomnia|DIMS (Disorders of Initiating and Maintaining Sleep)|Disorders of Initiating and Maintaining Sleep|Dysfunction, Sleep Initiation|Dysfunctions, Sleep Initiation|Early Awakening|Insomnia|Insomnia, Chronic|Insomnia Disorder|Insomnia Disorders|Insomnia, Nonorganic|Insomnia, Primary|Insomnia, Psychophysiological|Insomnia, Rebound|Insomnias|Insomnia, Secondary|Insomnia, Transient|Nonorganic Insomnia|Primary Insomnia|Psychophysiological Insomnia|Rebound Insomnia|Secondary Insomnia|Sleep Initiation Dysfunction|Sleep Initiation Dysfunctions|Sleeplessness|Transient Insomnia Mental disorder|Nervous system disease Sleep Paralysis MESH:D020188 A common condition characterized by transient partial or total paralysis of skeletal muscles and areflexia that occurs upon awakening from sleep or less often while falling asleep. Stimuli such as touch or sound may terminate the episode, which usually has a duration of seconds to minutes. This condition may occur in normal subjects or be associated with NARCOLEPSY; CATAPLEXY; and hypnagogic HALLUCINATIONS. The pathophysiology of this condition is closely related to the normal hypotonia that occur during REM sleep. (From Adv Neurol 1995;67:245-271) MESH:D020923 C10.886.659.633.800|F03.870.664.633.800 C10.886.659.633|F03.870.664.633 Paralysis, Sleep Mental disorder|Nervous system disease Sleep Wake Disorders MESH:D012893 OMIM:612975 Abnormal sleep-wake schedule or pattern associated with the CIRCADIAN RHYTHM which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. MESH:D001523|MESH:D009422|MESH:D009461 C10.886|C23.888.592.796|F03.870 C10|C23.888.592|F03 Disorder, Sleep|Disorder, Sleep Wake|Disorders, Sleep|Disorders, Sleep Wake|FNSS1|Long Sleeper Syndrome|Long Sleeper Syndromes|Neurogenic Tachypnea, Sleep-Related|Neurogenic Tachypneas, Sleep-Related|Phenotype, Short Sleep|Phenotypes, Short Sleep|Short Sleeper Syndrome|Short Sleeper Syndromes|SHORT SLEEP, FAMILIAL NATURAL, 1|Short Sleep Phenotype|Short Sleep Phenotypes|Sleep Disorder|Sleep Disorders|Sleeper Syndrome, Long|Sleeper Syndrome, Short|Sleeper Syndromes, Long|Sleeper Syndromes, Short|Sleep Phenotypes, Short|Sleep Related Neurogenic Tachypnea|Sleep-Related Neurogenic Tachypnea|Sleep-Related Neurogenic Tachypneas|Sleep Wake Disorder|Subwakefullness Syndrome|Subwakefullness Syndromes|Syndrome, Long Sleeper|Syndrome, Short Sleeper|Syndromes, Long Sleeper|Syndromes, Short Sleeper|Syndromes, Subwakefullness|Syndrome, Subwakefullness|Tachypnea, Sleep-Related Neurogenic|Tachypneas, Sleep-Related Neurogenic|Wake Disorder, Sleep|Wake Disorders, Sleep Mental disorder|Nervous system disease|Signs and symptoms Sleep-Wake Transition Disorders MESH:D020922 Parasomnias characterized by behavioral abnormalities that occur during the transition between wakefulness and sleep (or between sleep and wakefulness). MESH:D020447 C10.886.659.700|F03.870.664.700 C10.886.659|F03.870.664 Cramp, Nocturnal Leg|Cramps, Nocturnal Leg|Jactatio Capitis Nocturna|Leg Cramp, Nocturnal|Leg Cramps, Nocturnal|Movement Disorders, Rhythmic Nocturnal|Nocturna, Jactatio Capitis|Nocturnal Leg Cramp|Nocturnal Leg Cramps|Nocturnal Sleep Head Banging|Rhythmic Movement Disorders, Nocturnal|Sleep Starts|Sleep Talking|Sleep-Wake Transitional Disorder|Sleep Wake Transitional Disorders|Sleep-Wake Transitional Disorders|Sleep-Wake Transition Disorder|Sleep Wake Transition Disorders|Somnolescent Starts|Starts, Sleep|Starts, Somnolescent|Talking, Sleep|Transitional Disorder, Sleep-Wake|Transitional Disorders, Sleep Wake|Transitional Disorders, Sleep-Wake|Transition Disorder, Sleep-Wake|Transition Disorders, Sleep Wake|Transition Disorders, Sleep-Wake Mental disorder|Nervous system disease Slipped Capital Femoral Epiphyses MESH:D060048 A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip. MESH:D004839|MESH:D010009 C05.116.099.708.928|C05.116.425.500 C05.116.099.708|C05.116.425 Adolescent Coxa Vara|Adolescent Coxa Varas|Bilateral Slipped Capital Femoral Epiphyses|Bilateral Slipped Capital Femoral Epiphysis|Coxa Vara, Adolescent|Epiphysiolysis Capitis Femoris|Slipped Capital Femoral Epiphysis|Slipped Femoral Capital Epiphyses|Unilateral Slipped Capital Femoral Epiphyses|Unilateral Slipped Capital Femoral Epiphysis Musculoskeletal disease Slit Ventricle Syndrome MESH:D056124 An intermittent and self-limiting headache disorder in individuals with CEREBROSPINAL FLUID SHUNTS emplaced for the treatment of HYDROCEPHALUS. The symptoms of headache, vomiting, and cranial neuropathies are associated with intermittent obstruction of the shunt. MESH:D006261|MESH:D011183 C23.550.767.884|C23.888.592.612.441.500 C23.550.767|C23.888.592.612.441 Slit Ventricle Syndromes|Syndrome, Slit Ventricle|Syndromes, Slit Ventricle Pathology (process)|Signs and symptoms Slowed Nerve Conduction Velocity, Autosomal Dominant MESH:C564269 OMIM:608236 MESH:D015417 C10.500.300/C564269|C10.574.500.495/C564269|C10.668.829.800.300/C564269|C16.131.666.300/C564269|C16.320.400.375/C564269 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 SNCV Congenital abnormality|Genetic disease (inborn)|Nervous system disease Slow Virus Diseases MESH:D012897 Diseases of viral origin, characterized by incubation periods of months to years, insidious onset of clinical manifestations, and protracted clinical course. Though the disease process is protracted, viral multiplication may not be unusually slow. Conventional viruses produce slow virus diseases such as SUBACUTE SCLEROSING PANENCEPHALITIS, progressive multifocal leukoencephalopathy (LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL), and AIDS. Diseases produced by unconventional agents were originally considered part of this group. They are now called PRION DISEASES. MESH:D014777 C01.925.839 C01.925 Disease, Slow Virus|Diseases, Slow Virus|Slow Virus Disease|Virus Disease, Slow|Virus Diseases, Slow Viral disease Slti Salem syndrome MESH:C536673 MESH:D000505|MESH:D007006 C17.800.329.937.122/C536673|C19.391.482/C536673|C23.300.035/C536673 C17.800.329.937.122|C19.391.482|C23.300.035 Hypogonadism and frontoparietal alopecia|Hypogonadotropic hypogonadism alopecia Endocrine system disease|Pathology (anatomical condition)|Skin disease Sluggish Cognitive Tempo MESH:D000087346 Defined by a constellation of caregiver-reported symptoms that includes daydreaming, difficulty initiating and sustaining effort, lethargy, and physical underactivity. These symptoms have been observed in both typically developing children and in some children with Attention-Deficit/Hyperactivity Disorder (ADHD), especially those with the predominantly inattentive presentation. (J Abnormal Child Psychology; 46: Jan 2018.127). . MESH:D019958 F03.625.094.650 F03.625.094 Cognitive Tempo, Sluggish|Cognitive Tempos, Sluggish|Sluggish Cognitive Tempos Mental disorder Small Cell Lung Carcinoma MESH:D055752 DO:DOID:5409 A form of highly malignant lung cancer that is composed of small ovoid cells (SMALL CELL CARCINOMA). MESH:D002283 C04.588.894.797.520.109.220.624|C08.381.540.140.750|C08.785.520.100.220.750 C04.588.894.797.520.109.220|C08.381.540.140|C08.785.520.100.220 Carcinoma, Small Cell Lung|Oat Cell Carcinoma of Lung|Oat Cell Lung Cancer|Small Cell Cancer Of The Lung|Small Cell Lung Cancer Cancer|Respiratory tract disease Small Fiber Neuropathy MESH:D000071075 Disorder of the peripheral nerves that primarily impair small nerve fibers. The affected small nerve fibers include myelinated A-delta fibers (see A FIBERS) and unmyelinated C FIBERS. Because these small fibers innervate skin and help control autonomic function, their neuropathy presents with neuropathic pain, reduced thermal and pain sensitivity, and autonomic dysfunction (e.g. abnormal sweating or facial flushing). Small fiber neuropathy can be idiopathic or associated with underlying diseases (e.g., AMYLOIDOSIS; DIABETES MELLITUS; SARCOIDOSIS; or VASCULITIS). MESH:D010523 C10.668.829.860 C10.668.829 Neuropathies, Small Fiber|Neuropathies, Small Fibre|Neuropathy, Small Fiber|Neuropathy, Small Fibre|Small Fiber Neuropathies|Small Fibre Neuropathies|Small Fibre Neuropathy|Small Nerve Fiber Neuropathy Nervous system disease Smallpox MESH:D012899 DO:DOID:8736|DO:DOID:9153 An acute, highly contagious, often fatal infectious disease caused by an orthopoxvirus characterized by a biphasic febrile course and distinctive progressive skin eruptions. Vaccination has succeeded in eradicating smallpox worldwide. (Dorland, 28th ed) MESH:D011213 C01.925.256.743.826 C01.925.256.743 Alastrim|Minors, Variola|Minor, Variola|Variola|Variola Minor|Variola Minors|Variolas Viral disease Smear Layer MESH:D016369 Adherent debris produced when cutting the enamel or dentin in cavity preparation. It is about 1 micron thick and its composition reflects the underlying dentin, although different quantities and qualities of smear layer can be produced by the various instrumentation techniques. Its function is presumed to be protective, as it lowers dentin permeability. However, it masks the underlying dentin and interferes with attempts to bond dental material to the dentin. MESH:D003741 C07.793.208.688 C07.793.208 Layer, Smear Mouth disease Smith-Lemli-Opitz Syndrome MESH:D019082 DO:DOID:14692|OMIM:270400 An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. MESH:D000015|MESH:D008052|MESH:D043202|MESH:D050171 C16.131.077.860|C16.320.565.398.850|C16.320.565.925.875|C18.452.584.500.937|C18.452.584.563.850|C18.452.648.398.850|C18.452.648.925.875 C16.131.077|C16.320.565.398|C16.320.565.925|C18.452.584.500|C18.452.584.563|C18.452.648.398|C18.452.648.925 7-Dehydrocholesterol Reductase Deficiencies|7-Dehydrocholesterol Reductase Deficiency|Acrodysgenital Syndrome, Lethal|Acrodysgenital Syndromes, Lethal|Deficiencies, 7-Dehydrocholesterol Reductase|Deficiency, 7-Dehydrocholesterol Reductase|Hyperotosis Corticalis Generalisata Familiaris|Lethal Acrodysgenital Syndrome|Lethal Acrodysgenital Syndromes|Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung|Reductase Deficiencies, 7-Dehydrocholesterol|Reductase Deficiency, 7-Dehydrocholesterol|RSH SLO Syndrome|RSH-SLO Syndrome|RSH-SLO Syndromes|RSH Syndrome|RSH Syndromes|Rutledge Friedman Harrod Syndrome|Rutledge Lethal Multiple Congenital Anomaly Syndrome|SLOS|SLO Syndrome|SLO Syndromes|Smith Lemli Opitz Syndrome|Smith Lemli Opitz syndrome, type 1|Smith-Lemli-Opitz Syndrome, Type 1|Smith Lemli Opitz Syndrome, Type 2|Smith-Lemli-Opitz Syndrome, Type 2|Smith Lemli Opitz Syndrome, Type I|Smith-Lemli-Opitz Syndrome, Type I|Smith Lemli Opitz Syndrome, Type II|Smith-Lemli-Opitz Syndrome, Type II|Syndrome, Lethal Acrodysgenital|Syndrome, RSH|Syndrome, SLO|Syndromes, RSH|Syndromes, SLO Congenital abnormality|Genetic disease (inborn)|Metabolic disease Smith-Magenis Syndrome MESH:D058496 DO:DOID:0060768|OMIM:182290 Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2. MESH:D000015|MESH:D021081|MESH:D025063 C10.281.900|C16.131.077.879|C16.131.260.887|C16.320.180.887 C10.281|C16.131.077|C16.131.260|C16.320.180 17p11.2 Monosomy|Chromosome 17p11.2 Deletion Syndrome|CHROMOSOME 17p11.2 DELETION SYNDROME SMITH-MAGENIS SYNDROME CHROMOSOME REGION, INCLUDED|SMCR, INCLUDED|Smith Magenis Syndrome|SMS|Syndrome, Smith-Magenis Congenital abnormality|Genetic disease (inborn)|Nervous system disease Smith-McCort Dysplasia MESH:C564589 DO:DOID:0060247|OMIM:607326 MESH:D010009 C05.116.099.708/C564589|C16.320.728/C564589 C05.116.099.708|C16.320.728 SMC|SMC1|SMITH-MCCORT DYSPLASIA 1 Genetic disease (inborn)|Musculoskeletal disease Smoke Inhalation Injury MESH:D015208 Pulmonary injury following the breathing in of toxic smoke from burning materials such as plastics, synthetics, building materials, etc. This injury is the most frequent cause of death in burn patients. MESH:D002059 C26.200.322.800 C26.200.322 Inhalation Injuries, Smoke|Inhalation Injury, Smoke|Injuries, Smoke Inhalation|Injury, Smoke Inhalation|Smoke Inhalation Injuries Wounds and injuries smoker's inclusion bodies MESH:C000719328 MESH:D017563 C08.381.483/C000719328 C08.381.483 smokers' inclusions Respiratory tract disease Smoldering Multiple Myeloma MESH:D000075122 An asymptomatic and slow-growing PLASMA CELL dyscrasia characterized by presence of MYELOMA PROTEINS and clonal bone marrow plasma cells without end-organ damage (e.g., renal impairment). It is distinguished from MONOCLONAL GAMMOPATHY OF UNDETERMINED SIGNIFICANCE by a much higher risk of progression to symptomatic MULTIPLE MYELOMA. MESH:D006942|MESH:D010265|MESH:D011230 C04.834.794|C15.378.147.542.820|C15.378.147.780.838|C20.683.460.820|C20.683.780.838 C04.834|C15.378.147.542|C15.378.147.780|C20.683.460|C20.683.780 Asymptomatic Multiple Myeloma|Asymptomatic Multiple Myelomas|Multiple Myeloma, Asymptomatic|Multiple Myelomas, Asymptomatic|Multiple Myeloma, Smoldering|Myeloma, Smoldering|Smoldering Multiple Myelomas|Smoldering Myeloma|Smoldering Myelomas Blood disease|Cancer|Immune system disease Smooth Muscle Tumor MESH:D018235 DO:DOID:4310 A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle. MESH:D009379 C04.557.450.590.800 C04.557.450.590 Muscle Tumor, Smooth|Muscle Tumors, Smooth|Smooth Muscle Tumors|Tumor, Smooth Muscle|Tumors, Smooth Muscle Cancer Snake Bites MESH:D012909 Bites by snakes. Bite by a venomous snake is characterized by stinging pain at the wound puncture. The venom injected at the site of the bite is capable of producing a deleterious effect on the blood or on the nervous system. (Webster's 3d ed; from Dorland, 27th ed, at snake, venomous) MESH:D001733 C25.723.127.442|C26.176.724 C25.723.127|C26.176 Bite, Snake|Envenomation, Snakebite|Envenoming, Snake|Envenomings, Snake|Snakebite|Snake Bite|Snakebite Envenomation|Snakebite Envenomations|Snakebites|Snake Envenoming|Snake Envenomings Wounds and injuries Sneddon Syndrome MESH:D018860 DO:DOID:13096|OMIM:182410 A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of LIVEDO RETICULARIS, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60) MESH:D002561|MESH:D017445 C10.228.140.300.750|C14.907.253.774|C17.800.862.775 C10.228.140.300|C14.907.253|C17.800.862 Livedo Reticularis And Cerebrovascular Accidents|Livedo Reticularis, Systemic Involvement|SNDNS|Sneddon Champion Syndrome|Sneddon-Champion Syndrome|Syndrome, Sneddon|Syndrome, Sneddon-Champion Cardiovascular disease|Nervous system disease|Skin disease Sneezing MESH:D012912 The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT. MESH:D012818 C23.888.852.889 C23.888.852 Sneezings Signs and symptoms Snoring MESH:D012913 Rough, noisy breathing during sleep, due to vibration of the uvula and soft palate. MESH:D012135 C23.888.852.779.850 C23.888.852.779 Snorings Signs and symptoms Snowflake vitreoretinal degeneration MESH:C536677 DO:DOID:0111570|OMIM:193230 MESH:D012162 C11.270.612/C536677|C11.768.585/C536677 C11.270.612|C11.768.585 Snowflake degeneration in hereditary vitreoretinal degeneration|SNOWFLAKE VITREORETINAL DEGENERATION|SVD|Vitreoretinal degeneration, Snowflake type Eye disease Snyder Robinson syndrome MESH:C536678 OMIM:309583 MESH:D038901 C10.597.606.360.455/C536678|C16.320.322.500/C536678|C16.320.400.525/C536678 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE|Mental Retardation, X-Linked, Snyder-Robinson Type|MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE|MRXSSR|Snyder-Robinson Mental Retardation Syndrome|Snyder-Robinson Syndrome|SRS|X-linked mental retardation Snyder - Robinson type Genetic disease (inborn)|Nervous system disease Social Communication Disorder MESH:D000067404 Persistent difficulties in the social uses of verbal and nonverbal communications. (DSM-V) MESH:D003147 F03.625.374.250 F03.625.374 Communication Disorder, Pragmatic|Communication Disorder, Social|Communication Disorders, Pragmatic|Communication Disorders, Social|Disorders, Pragmatic Communication|Pragmatic Communication Disorder|Pragmatic Communication Disorders|Social Communication Disorders Mental disorder SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 OMIM:613508 MESH:D007010 C18.452.950.620/613508 C18.452.950.620 HYPONATREMIA, INCLUDED|SSQTL1 Metabolic disease Soft Tissue Infections MESH:D018461 Infections of non-skeletal tissue, i.e., exclusive of bone, ligaments, cartilage, and fibrous tissue. The concept is usually referred to as skin and soft tissue infections and usually subcutaneous and muscle tissue are involved. The predisposing factors in anaerobic infections are trauma, ischemia, and surgery. The organisms often derive from the fecal or oral flora, particularly in wounds associated with intestinal surgery, decubitus ulcer, and human bites. (From Cecil Textbook of Medicine, 19th ed, p1688) MESH:D007239 C01.820 C01 Infection, Soft Tissue|Infections, Soft Tissue|Soft Tissue Infection Soft Tissue Injuries MESH:D017695 Injuries of tissue other than bone. The concept is usually general and does not customarily refer to internal organs or viscera. It is meaningful with reference to regions or organs where soft tissue (muscle, fat, skin) should be differentiated from bones or bone tissue, as 'soft tissue injuries of the hand'. MESH:D014947 C26.808 C26 Injuries, Soft Tissue|Injury, Soft Tissue|Soft Tissue Injury Wounds and injuries Soft Tissue Neoplasms MESH:D012983 DO:DOID:0060123 Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc. MESH:D009371 C04.588.839 C04.588 Neoplasm, Soft Tissue|Neoplasms, Soft Tissue|Soft Tissue Neoplasm Cancer Sohval Soffer syndrome MESH:C536679 MESH:D013733 C12.100.500.829/C536679|C12.200.294.829/C536679|C19.391.829/C536679 C12.100.500.829|C12.200.294.829|C19.391.829 Congenital testicular deficiency Endocrine system disease|Urogenital disease (male) Solitary Fibrous Tumor, Pleural MESH:D054363 DO:DOID:2653 A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure. MESH:D010997|MESH:D054364 C04.557.450.565.590.797.750|C04.588.894.797.640.800 C04.557.450.565.590.797|C04.588.894.797.640 Benign Fibrous Mesothelioma|Benign Fibrous Mesotheliomas|Fibromas, Submesothelial|Fibroma, Submesothelial|Fibrous Mesothelioma|Fibrous Mesothelioma, Benign|Fibrous Mesothelioma, Localized|Fibrous Mesotheliomas|Fibrous Mesotheliomas, Benign|Fibrous Mesotheliomas, Localized|Fibrous Mesothelioma, Solitary|Fibrous Mesotheliomas, Solitary|Localized Fibrous Mesothelioma|Localized Fibrous Mesotheliomas|Localized Mesothelioma|Localized Mesotheliomas|Mesothelioma, Benign Fibrous|Mesothelioma, Fibrous|Mesothelioma, Localized|Mesothelioma, Localized Fibrous|Mesotheliomas, Benign Fibrous|Mesotheliomas, Fibrous|Mesotheliomas, Localized|Mesotheliomas, Localized Fibrous|Mesothelioma, Solitary Fibrous|Mesotheliomas, Solitary Fibrous|Solitary Fibrous Mesothelioma|Solitary Fibrous Mesotheliomas|Solitary Fibrous Tumor of the Pleura|Submesothelial Fibroma|Submesothelial Fibromas Cancer Solitary Fibrous Tumors MESH:D054364 Rare neoplasms of mesenchymal origin, usually benign, and most commonly involving the PLEURA (see SOLITARY FIBROUS TUMOR, PLEURAL). They also are found in extrapleural sites. MESH:D018218 C04.557.450.565.590.797 C04.557.450.565.590 Fibrous Tumor, Solitary|Fibrous Tumors, Solitary|Solitary Fibrous Tumor|Tumor, Solitary Fibrous|Tumors, Solitary Fibrous Cancer Solitary Kidney MESH:D000075529 Either a single or a single functioning kidney due to NEPHRECTOMY, birth defects or other kidney diseases. MESH:D014564|MESH:D020763 C12.050.351.875.846|C12.200.706.846|C12.800.846|C23.300.925 C12.050.351.875|C12.200.706|C12.800|C23.300 Functioning Kidney, Single|Functioning Kidneys, Single|Kidney, Single|Kidney, Single Functioning|Kidneys, Single|Kidneys, Single Functioning|Renal Agenesis, Unilateral|Renal Hypoplasia, Unilateral|Single Functioning Kidney|Single Functioning Kidneys|Single Kidney|Single Kidneys|Solitary Functioning Kidney|Unilateral Renal Agenesis|Unilateral Renal Hypoplasia Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Solitary Pulmonary Nodule MESH:D003074 DO:DOID:5364 A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA. MESH:D008171 C08.381.884 C08.381 Coin Lesion, Pulmonary|Coin Lesions, Pulmonary|Lesion, Pulmonary Coin|Lung Nodule, Solitary|Nodule, Solitary Lung|Nodule, Solitary Pulmonary|Nodules, Solitary Pulmonary|Pulmonary Coin Lesion|Pulmonary Coin Lesions|Pulmonary Nodule, Solitary|Pulmonary Nodules, Solitary|Solitary Lung Nodule|Solitary Lung Nodules|Solitary Pulmonary Nodules Respiratory tract disease somatic cough syndrome MESH:C000726769 MESH:D011602 C23.888.592.700/C000726769 C23.888.592.700 psychogenic cough Signs and symptoms Somatoform Disorders MESH:D013001 DO:DOID:13918|DO:DOID:4737 Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by another medical condition, by the direct effects of a substance, or by another mental disorder. The MEDICALLY UNEXPLAINED SYMPTOMS must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to FACTITIOUS DISORDERS and MALINGERING, the physical symptoms are not under voluntary control. (APA, DSM-V) MESH:D001523 F03.875 F03 Briquet Syndrome|Disorder, Somatoform|Medically Unexplained Syndrome|Medically Unexplained Syndromes|Pain Disorder|Somatization Disorder|Somatization Disorders|Somatoform Disorder|Syndrome, Briquet|Syndrome, Medically Unexplained|Unexplained Syndrome, Medically Mental disorder Somatosensory Disorders MESH:D020886 Disorders of sensory information received from superficial and deep regions of the body. The somatosensory system conveys neural impulses which pertain to proprioception, tactile sensation, thermal sensation, pressure sensation, and pain. PERIPHERAL NERVOUS SYSTEM DISEASES; SPINAL CORD DISEASES; and BRAIN DISEASES may be associated with impaired or abnormal somatic sensation. MESH:D012678 C10.597.751.791|C23.888.592.763.770 C10.597.751|C23.888.592.763 Diminished, Pain Sensation|Diminished, Pinprick Sensation|Diminisheds, Pain Sensation|Diminisheds, Pinprick Sensation|Impairment, Light Touch Sensation|Light Touch Sensation Impairment|Pain Sensation Diminished|Pain Sensation Diminisheds|Pinprick Sensation Diminished|Pinprick Sensation Diminisheds|Position Sense Disorder|Position Sense Disorders|Proprioceptive Disorder|Proprioceptive Disorders|Sensation Diminished, Pain|Sensation Diminished, Pinprick|Sensation Diminisheds, Pain|Sensation Diminisheds, Pinprick|Sensation Disorder, Somatic|Sensation Disorders, Somatic|Sensation Disorders, Thermal|Sensation Disorder, Thermal|Sense Disorder, Position|Sense Disorders, Position|Somatic Sensation Disorder|Somatic Sensation Disorders|Somatosensory Disorder|Thermal Sensation Disorder|Thermal Sensation Disorders Nervous system disease|Signs and symptoms Somatostatinoma MESH:D013005 DO:DOID:4430 A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS. MESH:D018273|MESH:D018278 C04.557.465.625.650.240.695|C04.557.470.200.025.370.695|C04.588.274.761.500.500|C04.588.322.475.500.500|C06.301.761.500.500|C06.689.667.500.500|C19.344.421.500.500 C04.557.465.625.650.240|C04.557.470.200.025.370|C04.588.274.761.500|C04.588.322.475.500|C06.301.761.500|C06.689.667.500|C19.344.421.500 Somatostatinomas Cancer|Digestive system disease|Endocrine system disease Somnambulism MESH:D013009 OMIM:613938 A parasomnia characterized by a partial arousal that occurs during stage IV of non-REM sleep. Affected individuals exhibit semipurposeful behaviors such as ambulation and are difficult to fully awaken. Children are primarily affected, with a peak age range of 4-6 years. MESH:D020921 C10.886.659.635.700|F03.870.664.635.700 C10.886.659.635|F03.870.664.635 Nocturnal Wandering|PARASOMNIA, SLEEP TERRORS TYPE, INCLUDED|PARASOMNIA, SLEEPWALKING TYPE|PSMNST, INCLUDED|PSMNSW|Sleepwalking|Sleep Walking|Sleep Walking Disorder|Sleep Walking Disorders|Wandering, Nocturnal Mental disorder|Nervous system disease Sonoda syndrome MESH:C536680 MESH:D006130|MESH:D006330|MESH:D019465 C05.660.207/C536680|C14.240.400/C536680|C14.280.400/C536680|C16.131.240.400/C536680|C16.131.621.207/C536680|C23.550.393/C536680 C05.660.207|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207|C23.550.393 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Pathology (process) Sotos Syndrome MESH:D058495 DO:DOID:14748|OMIM:117550 Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome. MESH:D000015|MESH:D025063 C16.131.077.889|C16.131.260.905|C16.320.180.905 C16.131.077|C16.131.260|C16.320.180 Cerebral Gigantism|Cerebral Gigantisms|CHROMOSOME 5q35 DELETION SYNDROME|Gigantism, Cerebral|Gigantisms, Cerebral|Sequence, Sotos|SOTOS|SOTOS1, FORMERLY|Sotos Sequence|Soto's Syndrome|Sotos' Syndrome|SOTOS SYNDROME 1, FORMERLY|Soto Syndrome|Syndrome, Sotos|Syndrome, Sotos' Congenital abnormality|Genetic disease (inborn) Southern tick-associated rash illness MESH:C000722848 MESH:D017282 C01.920.930/C000722848 C01.920.930 Masters disease|STARI Southern tick-associated rash illness spaceflight-induced visual impairment MESH:C000722495 MESH:D014786 C10.597.751.941/C000722495|C11.966/C000722495|C23.888.592.763.941/C000722495 C10.597.751.941|C11.966|C23.888.592.763.941 SANS spaceflight-associated neuro-ocular syndrome|space flight-associated neuro-ocular syndrome|spaceflight-associated neuro-ocular syndrome|space flight-associated VIIP|spaceflight-associated VIIP|spaceflight-associated visual impairment and intracranial pressure syndrome|space flight-induced visual impairment|VIIP spaceflight-associated Eye disease|Nervous system disease|Signs and symptoms Space Motion Sickness MESH:D018489 DO:DOID:4796 Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary) MESH:D009041 C23.888.571.800 C23.888.571 Adaptation Syndrome, Space|Motion Sickness, Space|Space Adaptation Syndrome|Syndrome, Space Adaptation Signs and symptoms Sparganosis MESH:D013031 DO:DOID:10080 Infection of animals, including fish and man, with a developmental stage of Diphyllobothrium. This stage has recently been referred to as a plerocercoid but the name sparganum has persisted. Therefore, infection of fish or other animals with the plerocercoid larvae is sparganosis. Fish-eating mammals, including man, are the final hosts. MESH:D004169 C01.610.335.190.304.780 C01.610.335.190.304 Sparganoses Parasitic disease Spasm MESH:D013035 An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE. MESH:D020879 C10.597.613.750|C23.888.592.608.750 C10.597.613|C23.888.592.608 Ciliary Body Spasm|Ciliary Body Spasms|Generalized Spasm|Generalized Spasms|Muscle Spasm|Muscle Spasms|Muscular Spasm|Muscular Spasms|Spasm, Ciliary Body|Spasm, Generalized|Spasm, Muscle|Spasm, Muscular|Spasms|Spasms, Ciliary Body|Spasms, Generalized|Spasms, Muscle|Spasms, Muscular Nervous system disease|Signs and symptoms Spasms, Infantile MESH:D013036 DO:DOID:0050562 An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8) MESH:D000073376|MESH:D004829 C10.228.140.490.375.760|C10.228.140.490.493.875 C10.228.140.490.375|C10.228.140.490.493 Attack, Lightning|Attacks, Lightning|Attacks, Salaam|Cryptogenic Infantile Spasm|Cryptogenic Infantile Spasms|Cryptogenic West Syndrome|Hypsarrhythmia|Hypsarrhythmias|Infantile Spasm|Infantile Spasm, Cryptogenic|Infantile Spasms|Infantile Spasms, Cryptogenic|Infantile Spasms, Symptomatic|Infantile Spasm, Symptomatic|Jackknife Seizure|Jackknife Seizures|Lightning Attack|Lightning Attacks|Nodding Spasm|Nodding Spasms|Salaam Attacks|Salaam Seizures|Seizure, Jackknife|Seizures, Jackknife|Seizures, Salaam|Spasm, Cryptogenic Infantile|Spasm, Nodding|Spasms, Cryptogenic Infantile|Spasms, Nodding|Spasms, Symptomatic Infantile|Spasm, Symptomatic Infantile|Spasmus Nutans|Symptomatic Infantile Spasm|Symptomatic Infantile Spasms|Symptomatic West Syndrome|Syndrome, Cryptogenic West|Syndrome, Symptomatic West|Syndrome, West|West Syndrome|West Syndrome, Cryptogenic|West Syndrome, Symptomatic Nervous system disease Spastic Ataxia MESH:C564815 DO:DOID:0050952 MESH:D008607|MESH:D009128|MESH:D009896|MESH:D020754 C05.651.512/C564815|C10.228.140.252.190.530/C564815|C10.228.140.252.700.700/C564815|C10.228.854.787.875/C564815|C10.292.700.225/C564815|C10.574.500.825.700/C564815|C10.597.350.090.500.530/C564815|C10.597.606.360/C564815|C10.597.613.550.550/C564815|C11.640.451/C564815|C16.320.400.780.875/C564815|C23.888.592.604.646/C564815|C23.888.592.608.550.550/C564815|F03.625.539/C564815 C05.651.512|C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.292.700.225|C10.574.500.825.700|C10.597.350.090.500.530|C10.597.606.360|C10.597.613.550.550|C11.640.451|C16.320.400.780.875|C23.888.592.604.646|C23.888.592.608.550.550|F03.625.539 Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE OMIM:613672 DO:DOID:0050943 MESH:C564815 C05.651.512/C564815/613672|C10.228.140.252.190.530/C564815/613672|C10.228.140.252.700.700/C564815/613672|C10.228.854.787.875/C564815/613672|C10.292.700.225/C564815/613672|C10.574.500.825.700/C564815/613672|C10.597.350.090.500.530/C564815/613672|C10.597.606.360/C564815/613672|C10.597.613.550.550/C564815/613672|C11.640.451/C564815/613672|C16.320.400.780.875/C564815/613672|C23.888.592.604.646/C564815/613672|C23.888.592.608.550.550/C564815/613672|F03.625.539/C564815/613672 C05.651.512/C564815|C10.228.140.252.190.530/C564815|C10.228.140.252.700.700/C564815|C10.228.854.787.875/C564815|C10.292.700.225/C564815|C10.574.500.825.700/C564815|C10.597.350.090.500.530/C564815|C10.597.606.360/C564815|C10.597.613.550.550/C564815|C11.640.451/C564815|C16.320.400.780.875/C564815|C23.888.592.604.646/C564815|C23.888.592.608.550.550/C564815|F03.625.539/C564815 SPAX4 Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE OMIM:614487 DO:DOID:0050944 MESH:C564815 C05.651.512/C564815/614487|C10.228.140.252.190.530/C564815/614487|C10.228.140.252.700.700/C564815/614487|C10.228.854.787.875/C564815/614487|C10.292.700.225/C564815/614487|C10.574.500.825.700/C564815/614487|C10.597.350.090.500.530/C564815/614487|C10.597.606.360/C564815/614487|C10.597.613.550.550/C564815/614487|C11.640.451/C564815/614487|C16.320.400.780.875/C564815/614487|C23.888.592.604.646/C564815/614487|C23.888.592.608.550.550/C564815/614487|F03.625.539/C564815/614487 C05.651.512/C564815|C10.228.140.252.190.530/C564815|C10.228.140.252.700.700/C564815|C10.228.854.787.875/C564815|C10.292.700.225/C564815|C10.574.500.825.700/C564815|C10.597.350.090.500.530/C564815|C10.597.606.360/C564815|C10.597.613.550.550/C564815|C11.640.451/C564815|C16.320.400.780.875/C564815|C23.888.592.604.646/C564815|C23.888.592.608.550.550/C564815|F03.625.539/C564815 SPAX5 Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Spastic ataxia Charlevoix-Saguenay type MESH:C536787 DO:DOID:0050946|OMIM:270550 MESH:D009128|MESH:D020754 C05.651.512/C536787|C10.228.140.252.190.530/C536787|C10.228.140.252.700.700/C536787|C10.228.854.787.875/C536787|C10.574.500.825.700/C536787|C10.597.350.090.500.530/C536787|C10.597.613.550.550/C536787|C16.320.400.780.875/C536787|C23.888.592.608.550.550/C536787 C05.651.512|C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C10.597.613.550.550|C16.320.400.780.875|C23.888.592.608.550.550 ARSACS|Autosomal recessive spastic ataxia of Charlevoix-Saguenay|Charlevoix-Saguenay spastic ataxia|SACS|Spastic ataxia 6, autosomal recessive|Spastic Ataxia, Charlevoix-Saguenay Type|Spastic ataxia of Charlevoix-Saguenay|SPAX6 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Spastic diplegia infantile type MESH:C537481 OMIM:270600 MESH:D008607|MESH:D015419 C10.500.300.820/C537481|C10.574.500.495.820/C537481|C10.597.606.360/C537481|C10.668.829.800.300.820/C537481|C16.131.666.300.820/C537481|C16.320.400.375.820/C537481|C23.888.592.604.646/C537481|F03.625.539/C537481 C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.604.646|F03.625.539 Hereditary spastic diplegia with mental retardation|SPASTIC DIPLEGIA AND IMPAIRED INTELLECTUAL DEVELOPMENT|SPASTIC DIPLEGIA AND MENTAL RETARDATION|Spastic Diplegia, Infantile Type Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Spastic paraplegia 10, autosomal dominant MESH:C537482 OMIM:604187 MESH:D015419 C10.500.300.820/C537482|C10.574.500.495.820/C537482|C10.668.829.800.300.820/C537482|C16.131.666.300.820/C537482|C16.320.400.375.820/C537482 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Autosomal dominant spastic paraplegia|SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY|SPG10 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 11, autosomal recessive MESH:C537483 OMIM:604360 MESH:D015419 C10.500.300.820/C537483|C10.574.500.495.820/C537483|C10.668.829.800.300.820/C537483|C16.131.666.300.820/C537483|C16.320.400.375.820/C537483 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum|Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum|Hsp-Tcc|Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum|Spastic Paraplegia, Autosomal Recessive, with Mental Impairment and Thin Corpus Callosum|Spastic Paraplegia Type 11|SPG11|Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 12, autosomal dominant MESH:C537484 OMIM:604805 MESH:D015419 C10.500.300.820/C537484|C10.574.500.495.820/C537484|C10.668.829.800.300.820/C537484|C16.131.666.300.820/C537484|C16.320.400.375.820/C537484 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG12 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 13, autosomal dominant MESH:C537485 OMIM:605280 MESH:D015419 C10.500.300.820/C537485|C10.574.500.495.820/C537485|C10.668.829.800.300.820/C537485|C16.131.666.300.820/C537485|C16.320.400.375.820/C537485 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG13 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 14, autosomal recessive MESH:C537486 OMIM:605229 MESH:D008607|MESH:D015419 C10.500.300.820/C537486|C10.574.500.495.820/C537486|C10.597.606.360/C537486|C10.668.829.800.300.820/C537486|C16.131.666.300.820/C537486|C16.320.400.375.820/C537486|C23.888.592.604.646/C537486|F03.625.539/C537486 C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.604.646|F03.625.539 SPG14 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Spastic paraplegia 15, autosomal recessive MESH:C536642 OMIM:270700 MESH:D012162|MESH:D015419 C10.500.300.820/C536642|C10.574.500.495.820/C536642|C10.668.829.800.300.820/C536642|C11.270.612/C536642|C11.768.585/C536642|C16.131.666.300.820/C536642|C16.320.400.375.820/C536642 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C11.270.612|C11.768.585|C16.131.666.300.820|C16.320.400.375.820 Kjellin syndrome|Recessive spastic paraplegia with retinal degeneration|Spastic paraplegia and retinal degeneration|SPG15 Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 16, X-linked MESH:C536643 OMIM:300266 MESH:D015419|MESH:D040181 C10.500.300.820/C536643|C10.574.500.495.820/C536643|C10.668.829.800.300.820/C536643|C16.131.666.300.820/C536643|C16.320.322/C536643|C16.320.400.375.820/C536643 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.322|C16.320.400.375.820 SPG16 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 17 MESH:C536644 OMIM:270685 MESH:D015419 C10.500.300.820/C536644|C10.574.500.495.820/C536644|C10.668.829.800.300.820/C536644|C16.131.666.300.820/C536644|C16.320.400.375.820/C536644 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Silver spastic paraplegia syndrome|Silver syndrome|SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT|Spastic paraplegia with amyotrophy of hands and feet|Spg17 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 18, Autosomal Recessive MESH:C567628 OMIM:611225 MESH:D003286|MESH:D008607|MESH:D015419 C05.550.323/C567628|C05.651.197/C567628|C10.500.300.820/C567628|C10.574.500.495.820/C567628|C10.597.606.360/C567628|C10.668.829.800.300.820/C567628|C16.131.666.300.820/C567628|C16.320.400.375.820/C567628|C23.888.592.604.646/C567628|F03.625.539/C567628 C05.550.323|C05.651.197|C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.604.646|F03.625.539 IDMDC|Intellectual Disability, Motor Dysfunction, and Joint Contractures|SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE|SPASTIC PARAPLEGIA 18B, AUTOSOMAL RECESSIVE|SPG18|SPG18B Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Spastic paraplegia 19, autosomal dominant MESH:C536856 OMIM:607152 MESH:D015419 C10.500.300.820/C536856|C10.574.500.495.820/C536856|C10.668.829.800.300.820/C536856|C16.131.666.300.820/C536856|C16.320.400.375.820/C536856 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG19 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 20, autosomal recessive MESH:C536858 OMIM:275900 MESH:D015419 C10.500.300.820/C536858|C10.574.500.495.820/C536858|C10.668.829.800.300.820/C536858|C16.131.666.300.820/C536858|C16.320.400.375.820/C536858 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Cross-McKusick syndrome|Spastic paraparesis, childhood onset, with distal muscle wasting|Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting|Spastic paraplegia, autosomal recessive, Troyer type|Spastic paraplegia with distal muscle wasting|SPG20|Troyer syndrome Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 23 MESH:C536859 OMIM:270750 MESH:D010859|MESH:D014820|MESH:D015419|MESH:D019066 C10.500.300.820/C536859|C10.574.500.495.820/C536859|C10.668.829.800.300.820/C536859|C16.131.666.300.820/C536859|C16.320.400.375.820/C536859|C17.800.621.440.895/C536859|C17.800.621/C536859|C23.550.291.812/C536859|C23.550.755/C536859 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C17.800.621|C17.800.621.440.895|C23.550.291.812|C23.550.755 Abdallat Davis Farrage syndrome|Abdallat syndrome|Lison syndrome|Spastic Paraparesis, Vitiligo, Premature Graying, Characteristic Facies|SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE|Spastic paraplegia and pigmentary abnormalities|Spastic paraplegia, vitiligo, premature graying and characteristic facies|Spastic Paraplegia With Pigmentary Abnormalities|SPG23 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Skin disease Spastic paraplegia 24 MESH:C536860 OMIM:607584 MESH:D003638|MESH:D015419 C09.218.458.341.186/C536860|C10.500.300.820/C536860|C10.574.500.495.820/C536860|C10.597.751.418.341.186/C536860|C10.668.829.800.300.820/C536860|C16.131.666.300.820/C536860|C16.320.400.375.820/C536860|C23.888.592.763.393.341.186/C536860 C09.218.458.341.186|C10.500.300.820|C10.574.500.495.820|C10.597.751.418.341.186|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.763.393.341.186 SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE|SPG24 Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Spastic Paraplegia 24, Autosomal Recessive MESH:C564375 MESH:D010264 C10.597.622.669/C564375|C23.888.592.636.637/C564375 C10.597.622.669|C23.888.592.636.637 Nervous system disease|Signs and symptoms Spastic paraplegia 25, autosomal recessive MESH:C536861 OMIM:608220 MESH:D007405|MESH:D015419 C05.116.900.307/C536861|C10.500.300.820/C536861|C10.574.500.495.820/C536861|C10.668.829.800.300.820/C536861|C16.131.666.300.820/C536861|C16.320.400.375.820/C536861|C23.300.707.952/C536861 C05.116.900.307|C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.300.707.952 Disc Herniation With Spastic Paraplegia, Autosomal Recessive|SPG25|Spinal disc herniation with autosomal recessive spastic paraplegia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Spastic paraplegia 26, autosomal recessive MESH:C536862 OMIM:609195 MESH:D015419 C10.500.300.820/C536862|C10.574.500.495.820/C536862|C10.668.829.800.300.820/C536862|C16.131.666.300.820/C536862|C16.320.400.375.820/C536862 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG26 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 27, Autosomal Recessive MESH:C563807 OMIM:609041 MESH:D015419 C10.500.300.820/C563807|C10.574.500.495.820/C563807|C10.668.829.800.300.820/C563807|C16.131.666.300.820/C563807|C16.320.400.375.820/C563807 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG27 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 28, Autosomal Recessive MESH:C563732 OMIM:609340 MESH:D010264 C10.597.622.669/C563732|C23.888.592.636.637/C563732 C10.597.622.669|C23.888.592.636.637 SPG28 Nervous system disease|Signs and symptoms Spastic paraplegia 29, autosomal dominant MESH:C536863 OMIM:609727 MESH:D015419 C10.500.300.820/C536863|C10.574.500.495.820/C536863|C10.668.829.800.300.820/C536863|C16.131.666.300.820/C536863|C16.320.400.375.820/C536863 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG29 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 2, X-linked MESH:C536857 OMIM:312920 MESH:D015419|MESH:D040181 C10.500.300.820/C536857|C10.574.500.495.820/C536857|C10.668.829.800.300.820/C536857|C16.131.666.300.820/C536857|C16.320.322/C536857|C16.320.400.375.820/C536857 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.322|C16.320.400.375.820 SPG2|SPPX2 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 30, Autosomal Recessive MESH:C563677 OMIM:610357 MESH:D010264 C10.597.622.669/C563677|C23.888.592.636.637/C563677 C10.597.622.669|C23.888.592.636.637 SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT|SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, INCLUDED|SPG30 Nervous system disease|Signs and symptoms Spastic Paraplegia 31, Autosomal Dominant MESH:C565210 OMIM:610250 MESH:D015419 C10.500.300.820/C565210|C10.574.500.495.820/C565210|C10.668.829.800.300.820/C565210|C16.131.666.300.820/C565210|C16.320.400.375.820/C565210 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG31 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 32, Autosomal Recessive MESH:C566983 OMIM:611252 MESH:D008607|MESH:D015419 C10.500.300.820/C566983|C10.574.500.495.820/C566983|C10.597.606.360/C566983|C10.668.829.800.300.820/C566983|C16.131.666.300.820/C566983|C16.320.400.375.820/C566983|C23.888.592.604.646/C566983|F03.625.539/C566983 C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.604.646|F03.625.539 SPG32 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Spastic Paraplegia 33, Autosomal Dominant MESH:C565214 OMIM:610244 MESH:D015419 C10.500.300.820/C565214|C10.574.500.495.820/C565214|C10.668.829.800.300.820/C565214|C16.131.666.300.820/C565214|C16.320.400.375.820/C565214 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG33 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 34, X-Linked MESH:C567465 OMIM:300750 MESH:D015419|MESH:D040181 C10.500.300.820/C567465|C10.574.500.495.820/C567465|C10.668.829.800.300.820/C567465|C16.131.666.300.820/C567465|C16.320.322/C567465|C16.320.400.375.820/C567465 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.322|C16.320.400.375.820 SPG34 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION OMIM:612319 DO:DOID:0110786 MESH:D015419 C10.500.300.820/612319|C10.574.500.495.820/612319|C10.668.829.800.300.820/612319|C16.131.666.300.820/612319|C16.320.400.375.820/612319 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 FAHN|FATTY ACID HYDROXYLASE-ASSOCIATED NEURODEGENERATION|LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT DYSTONIA|SPG35 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 36, Autosomal Dominant MESH:C567930 OMIM:613096 MESH:D015419 C10.500.300.820/C567930|C10.574.500.495.820/C567930|C10.668.829.800.300.820/C567930|C16.131.666.300.820/C567930|C16.320.400.375.820/C567930 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Spg36 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 37, Autosomal Dominant MESH:C567931 OMIM:611945 MESH:D015419 C10.500.300.820/C567931|C10.574.500.495.820/C567931|C10.668.829.800.300.820/C567931|C16.131.666.300.820/C567931|C16.320.400.375.820/C567931 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG37 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 38, Autosomal Dominant MESH:C567349 OMIM:612335 MESH:D015419 C10.500.300.820/C567349|C10.574.500.495.820/C567349|C10.668.829.800.300.820/C567349|C16.131.666.300.820/C567349|C16.320.400.375.820/C567349 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG38 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 39, Autosomal Recessive MESH:C567433 OMIM:612020 MESH:D015419 C10.500.300.820/C567433|C10.574.500.495.820/C567433|C10.668.829.800.300.820/C567433|C16.131.666.300.820/C567433|C16.320.400.375.820/C567433 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 NTEMND|NTE-Related Motor Neuron Disorder|SPG39 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 3, autosomal dominant MESH:C536864 OMIM:182600 MESH:D015419 C10.500.300.820/C536864|C10.574.500.495.820/C536864|C10.668.829.800.300.820/C536864|C16.131.666.300.820/C536864|C16.320.400.375.820/C536864 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Familial spastic paraplegia, autosomal dominant, 1|FSP1|Fsp1 Familial spastic paraplegia 1|Spastic Paraplegia 3|Spastic Paraplegia 3a|Spastic Paraplegia Type 3a|SPG3|Spg3a|SPG3A Spastic paraplegia 3a|Strumpell disease Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT OMIM:613364 DO:DOID:0110793 MESH:D015419 C10.500.300.820/613364|C10.574.500.495.820/613364|C10.668.829.800.300.820/613364|C16.131.666.300.820/613364|C16.320.400.375.820/613364 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG41 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 42, Autosomal Dominant MESH:C567262 OMIM:612539 MESH:D015419 C10.500.300.820/C567262|C10.574.500.495.820/C567262|C10.668.829.800.300.820/C567262|C16.131.666.300.820/C567262|C16.320.400.375.820/C567262 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG42 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE OMIM:615043 DO:DOID:0110795 MESH:D015419 C10.500.300.820/615043|C10.574.500.495.820/615043|C10.668.829.800.300.820/615043|C16.131.666.300.820/615043|C16.320.400.375.820/615043 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG43 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 44, Autosomal Recessive MESH:C567707 OMIM:613206 MESH:D015419 C10.500.300.820/C567707|C10.574.500.495.820/C567707|C10.668.829.800.300.820/C567707|C16.131.666.300.820/C567707|C16.320.400.375.820/C567707 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG44 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE OMIM:613162 DO:DOID:0110797 MESH:D015419 C10.500.300.820/613162|C10.574.500.495.820/613162|C10.668.829.800.300.820/613162|C16.131.666.300.820/613162|C16.320.400.375.820/613162 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG45 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE OMIM:614409 DO:DOID:0110798 MESH:D015419 C10.500.300.820/614409|C10.574.500.495.820/614409|C10.668.829.800.300.820/614409|C16.131.666.300.820/614409|C16.320.400.375.820/614409 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG46 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE OMIM:614066 DO:DOID:0110799 MESH:D015419 C10.500.300.820/614066|C10.574.500.495.820/614066|C10.668.829.800.300.820/614066|C16.131.666.300.820/614066|C16.320.400.375.820/614066 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 5, FORMERLY|CPSQ5, FORMERLY|SPG47 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE OMIM:613647 DO:DOID:0110800 MESH:D015419 C10.500.300.820/613647|C10.574.500.495.820/613647|C10.668.829.800.300.820/613647|C16.131.666.300.820/613647|C16.320.400.375.820/613647 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG48 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 4, autosomal dominant MESH:C536865 OMIM:182601 MESH:D015419 C10.500.300.820/C536865|C10.574.500.495.820/C536865|C10.668.829.800.300.820/C536865|C16.131.666.300.820/C536865|C16.320.400.375.820/C536865 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Autosomal dominant, spastic paraplegia 4|Familial spastic paraplegia autosomal dominant 2|Familial Spastic Paraplegia, Autosomal Dominant, 2|FSP2|SPG4 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia-50, Autosomal Recessive MESH:C567858 OMIM:612936 MESH:D002547|MESH:D015419 C10.228.140.140.254/C567858|C10.500.300.820/C567858|C10.574.500.495.820/C567858|C10.668.829.800.300.820/C567858|C16.131.666.300.820/C567858|C16.320.400.375.820/C567858 C10.228.140.140.254|C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY|CPSQ3, FORMERLY|SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE|SPG50 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE OMIM:613744 DO:DOID:0110803 MESH:D015419 C10.500.300.820/613744|C10.574.500.495.820/613744|C10.668.829.800.300.820/613744|C16.131.666.300.820/613744|C16.320.400.375.820/613744 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY|CPSQ4, FORMERLY|SPG51 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE OMIM:614067 DO:DOID:0110804 MESH:D015419 C10.500.300.820/614067|C10.574.500.495.820/614067|C10.668.829.800.300.820/614067|C16.131.666.300.820/614067|C16.320.400.375.820/614067 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY|CPSQ6, FORMERLY|SPG52 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE OMIM:614898 DO:DOID:0110805 MESH:D015419 C10.500.300.820/614898|C10.574.500.495.820/614898|C10.668.829.800.300.820/614898|C16.131.666.300.820/614898|C16.320.400.375.820/614898 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG53 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE OMIM:615033 DO:DOID:0110806 MESH:D015419 C10.500.300.820/615033|C10.574.500.495.820/615033|C10.668.829.800.300.820/615033|C16.131.666.300.820/615033|C16.320.400.375.820/615033 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG54 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM OMIM:615030 DO:DOID:0110808 MESH:D011561|MESH:D015419 C10.500.300.820/615030|C10.574.500.495.820/615030|C10.668.829.800.300.820/615030|C14.907.454.530/615030|C15.378.463.515.530/615030|C16.131.666.300.820/615030|C16.131.831.766/615030|C16.320.400.375.820/615030|C16.320.850.750/615030|C17.300.766/615030|C17.800.804.766/615030|C17.800.827.750/615030 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C14.907.454.530|C15.378.463.515.530|C16.131.666.300.820|C16.131.831.766|C16.320.400.375.820|C16.320.850.750|C17.300.766|C17.800.804.766|C17.800.827.750 SPG56 Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Nervous system disease|Skin disease SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE OMIM:615658 DO:DOID:0110809 MESH:D015419 C10.500.300.820/615658|C10.574.500.495.820/615658|C10.668.829.800.300.820/615658|C16.131.666.300.820/615658|C16.320.400.375.820/615658 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG57 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 5a, Autosomal Recessive MESH:C564811 MESH:D015419 C10.500.300.820/C564811|C10.574.500.495.820/C564811|C10.668.829.800.300.820/C564811|C16.131.666.300.820/C564811|C16.320.400.375.820/C564811 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE OMIM:615685 DO:DOID:0110812 MESH:D015419 C10.500.300.820/615685|C10.574.500.495.820/615685|C10.668.829.800.300.820/615685|C16.131.666.300.820/615685|C16.320.400.375.820/615685 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG61 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE OMIM:615681 DO:DOID:0110813 MESH:D015419 C10.500.300.820/615681|C10.574.500.495.820/615681|C10.668.829.800.300.820/615681|C16.131.666.300.820/615681|C16.320.400.375.820/615681 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG62 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE OMIM:615686 DO:DOID:0110814 MESH:D015419 C10.500.300.820/615686|C10.574.500.495.820/615686|C10.668.829.800.300.820/615686|C16.131.666.300.820/615686|C16.320.400.375.820/615686 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG63 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE OMIM:615683 DO:DOID:0110815 MESH:D015419 C10.500.300.820/615683|C10.574.500.495.820/615683|C10.668.829.800.300.820/615683|C16.131.666.300.820/615683|C16.320.400.375.820/615683 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG64 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 6, autosomal dominant MESH:C536866 OMIM:600363 MESH:D015419 C10.500.300.820/C536866|C10.574.500.495.820/C536866|C10.668.829.800.300.820/C536866|C16.131.666.300.820/C536866|C16.320.400.375.820/C536866 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Familial spastic paraplegia, autosomal dominant 3|Familial Spastic Paraplegia, Autosomal Dominant, 3|Fsp3|Spg6 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE OMIM:615625 DO:DOID:0110817 MESH:D015419 C10.500.300.820/615625|C10.574.500.495.820/615625|C10.668.829.800.300.820/615625|C16.131.666.300.820/615625|C16.320.400.375.820/615625 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, INCLUDED|SPG72 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT OMIM:616282 DO:DOID:0110818 MESH:D015419 C10.500.300.820/616282|C10.574.500.495.820/616282|C10.668.829.800.300.820/616282|C16.131.666.300.820/616282|C16.320.400.375.820/616282 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG73 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE OMIM:616451 DO:DOID:0110819 MESH:D015419 C10.500.300.820/616451|C10.574.500.495.820/616451|C10.668.829.800.300.820/616451|C16.131.666.300.820/616451|C16.320.400.375.820/616451 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG74 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE OMIM:616680 DO:DOID:0110820 MESH:D015419 C10.500.300.820/616680|C10.574.500.495.820/616680|C10.668.829.800.300.820/616680|C16.131.666.300.820/616680|C16.320.400.375.820/616680 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG75 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE OMIM:616907 DO:DOID:0110821 MESH:D015419 C10.500.300.820/616907|C10.574.500.495.820/616907|C10.668.829.800.300.820/616907|C16.131.666.300.820/616907|C16.320.400.375.820/616907 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG76 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE OMIM:617046 DO:DOID:0110822 MESH:D015419 C10.500.300.820/617046|C10.574.500.495.820/617046|C10.668.829.800.300.820/617046|C16.131.666.300.820/617046|C16.320.400.375.820/617046 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG77 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE OMIM:617225 DO:DOID:0112348 MESH:D015419 C10.500.300.820/617225|C10.574.500.495.820/617225|C10.668.829.800.300.820/617225|C16.131.666.300.820/617225|C16.320.400.375.820/617225 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG78 Congenital abnormality|Genetic disease (inborn)|Nervous system disease SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE OMIM:615491 DO:DOID:0112344 MESH:D015419 C10.500.300.820/615491|C10.574.500.495.820/615491|C10.668.829.800.300.820/615491|C16.131.666.300.820/615491|C16.320.400.375.820/615491 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 NDGOA|NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET|SPG79B Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia 7, Autosomal Recessive MESH:C564599 OMIM:607259 MESH:D015419 C10.500.300.820/C564599|C10.574.500.495.820/C564599|C10.668.829.800.300.820/C564599|C16.131.666.300.820/C564599|C16.320.400.375.820/C564599 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG7 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia 9, autosomal dominant MESH:C536868 OMIM:601162 MESH:D002386|MESH:D006130|MESH:D015419 C10.500.300.820/C536868|C10.574.500.495.820/C536868|C10.668.829.800.300.820/C536868|C11.510.245/C536868|C16.131.666.300.820/C536868|C16.320.400.375.820/C536868|C23.550.393/C536868 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C11.510.245|C16.131.666.300.820|C16.320.400.375.820|C23.550.393 Autosomal dominant spastic paraparesis|Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy|Cataracts, motor neuronopathy, short stature and skeletal abnormalities|Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities|Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux|SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX|SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT|SPG9A Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process) SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE OMIM:616586 DO:DOID:0110825 MESH:D015419 C10.500.300.820/616586|C10.574.500.495.820/616586|C10.668.829.800.300.820/616586|C16.131.666.300.820/616586|C16.320.400.375.820/616586 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 SPG9B Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia And Evans Syndrome MESH:C566652 MESH:D000744|MESH:D013921|MESH:D015419 C10.500.300.820/C566652|C10.574.500.495.820/C566652|C10.668.829.800.300.820/C566652|C15.378.071.141.125/C566652|C15.378.140.855/C566652|C16.131.666.300.820/C566652|C16.320.400.375.820/C566652|C20.111.175/C566652 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C15.378.071.141.125|C15.378.140.855|C16.131.666.300.820|C16.320.400.375.820|C20.111.175 Blood disease|Congenital abnormality|Genetic disease (inborn)|Immune system disease|Nervous system disease Spastic Paraplegia, Ataxia, And Mental Retardation MESH:C564378 MESH:D001259|MESH:D008607|MESH:D010264 C10.597.350.090/C564378|C10.597.606.360/C564378|C10.597.622.669/C564378|C23.888.592.350.090/C564378|C23.888.592.604.646/C564378|C23.888.592.636.637/C564378|F03.625.539/C564378 C10.597.350.090|C10.597.606.360|C10.597.622.669|C23.888.592.350.090|C23.888.592.604.646|C23.888.592.636.637|F03.625.539 Mental disorder|Nervous system disease|Signs and symptoms Spastic paraplegia epilepsy mental retardation MESH:C536869 MESH:D008607|MESH:D015419 C10.500.300.820/C536869|C10.574.500.495.820/C536869|C10.597.606.360/C536869|C10.668.829.800.300.820/C536869|C16.131.666.300.820/C536869|C16.320.400.375.820/C536869|C23.888.592.604.646/C536869|F03.625.539/C536869 C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.604.646|F03.625.539 Spastic Paraplegia, Epilepsy, And Mental Retardation Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Spastic Paraplegia, Hereditary MESH:D015419 DO:DOID:2476 A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8) MESH:D015417 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.666.300|C16.320.400.375 Autosomal Dominant Hereditary Spastic Paraplegia|Autosomal Dominant Spastic Paraplegia Hereditary|Autosomal Recessive Hereditary Spastic Paraplegia|Autosomal Recessive Spastic Paraplegia, Hereditary|Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant|Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant|CMT with Pyramidal Features|Hereditary Autosomal Dominant Spastic Paraplegia|Hereditary Autosomal Recessive Spastic Paraplegia|Hereditary Motor and Sensory Neuropathy 5|Hereditary Motor And Sensory Neuropathy V|Hereditary Motor Sensory Neuropathy with Pyramidal Signs|Hereditary Motor-Sensory Neuropathy with Pyramidal Signs|Hereditary Spastic Paraplegia|Hereditary, Spastic Paraplegia, Autosomal Dominant|Hereditary Spastic Paraplegia, Autosomal Recessive|Hereditary Spastic Paraplegias|Hereditary, Spastic Paraplegia, X-Linked Recessive|Hereditary X Linked Recessive Spastic Paraplegia|Hereditary X-Linked Recessive Spastic Paraplegia|HMSN 5|HMSN Type V|HMSN V|HMSN V (Hereditary Motor and Sensory Neuropathy Type V)|Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia|Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia|Paraplegia, Hereditary Spastic|Paraplegias, Hereditary Spastic|Paraplegia, Spastic, Hereditary|Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant|Spastic Paraplegia 2|Spastic Paraplegia, Autosomal Dominant, Hereditary|Spastic Paraplegia, Autosomal Recessive, Hereditary|Spastic Paraplegia, Hereditary, Autosomal Dominant|Spastic Paraplegia, Hereditary, Autosomal Recessive|Spastic Paraplegia, Hereditary, X-Linked Recessive|Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy|Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy|Spastic Paraplegias, Hereditary|Spastic Paraplegia Type 2|Spastic Paraplegia, X-Linked Recessive, Hereditary|Type V Hereditary Motor and Sensory Neuropathy|Type V, HMSN|X-linked Recessive Hereditary Spastic Paraplegia|X Linked Recessive Hereditary Spastic Paraplegia|X-Linked, Spastic Paraplegia, Hereditary Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia neuropathy poikiloderma MESH:C536870 MESH:D011038|MESH:D015419 C10.500.300.820/C536870|C10.574.500.495.820/C536870|C10.668.829.800.300.820/C536870|C16.131.666.300.820/C536870|C16.131.831.775/C536870|C16.320.400.375.820/C536870|C16.320.850.765/C536870|C16.614.760/C536870|C17.800.804.775/C536870|C17.800.827.775/C536870|C18.452.284.760/C536870 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.131.831.775|C16.320.400.375.820|C16.320.850.765|C16.614.760|C17.800.804.775|C17.800.827.775|C18.452.284.760 Familial spastic paraplegia with neuropathy and poikiloderma|Spastic Paraplegia With Neuropathy And Poikiloderma Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Nervous system disease|Skin disease Spastic Paraplegia, Optic Atrophy, And Dementia MESH:C566679 MESH:D003704|MESH:D015418|MESH:D015419 C10.228.140.380/C566679|C10.292.700.225.500/C566679|C10.500.300.820/C566679|C10.574.500.495.820/C566679|C10.574.500.662/C566679|C10.668.829.800.300.820/C566679|C11.270.564/C566679|C11.640.451.451/C566679|C16.131.666.300.820/C566679|C16.320.290.564/C566679|C16.320.400.375.820/C566679|C16.320.400.630/C566679|F03.615.400/C566679 C10.228.140.380|C10.292.700.225.500|C10.500.300.820|C10.574.500.495.820|C10.574.500.662|C10.668.829.800.300.820|C11.270.564|C11.640.451.451|C16.131.666.300.820|C16.320.290.564|C16.320.400.375.820|C16.320.400.630|F03.615.400 Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Nervous system disease Spastic Paraplegia, Optic Atrophy, and Neuropathy MESH:C563702 DO:DOID:0060491|OMIM:609541 MESH:D009896|MESH:D010264|MESH:D015417 C10.292.700.225/C563702|C10.500.300/C563702|C10.574.500.495/C563702|C10.597.622.669/C563702|C10.668.829.800.300/C563702|C11.640.451/C563702|C16.131.666.300/C563702|C16.320.400.375/C563702|C23.888.592.636.637/C563702 C10.292.700.225|C10.500.300|C10.574.500.495|C10.597.622.669|C10.668.829.800.300|C11.640.451|C16.131.666.300|C16.320.400.375|C23.888.592.636.637 SPOAN Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal MESH:C566409 MESH:D006061|MESH:D008831|MESH:D015418|MESH:D015419 C05.660.207.620/C566409|C10.292.700.225.500/C566409|C10.500.300.820/C566409|C10.500.507.400.500/C566409|C10.574.500.495.820/C566409|C10.574.500.662/C566409|C10.668.829.800.300.820/C566409|C11.270.564/C566409|C11.640.451.451/C566409|C12.050.351.875.253.096.687/C566409|C12.050.351.875.253.309.388/C566409|C12.200.706.316.096.687/C566409|C12.200.706.316.309.388/C566409|C12.800.316.096.687/C566409|C12.800.316.309.388/C566409|C16.131.621.207.620/C566409|C16.131.666.300.820/C566409|C16.131.666.507.400.500/C566409|C16.131.939.316.096.687/C566409|C16.131.939.316.309.388/C566409|C16.320.290.564/C566409|C16.320.400.375.820/C566409|C16.320.400.630/C566409|C19.391.119.096.687/C566409|C19.391.119.309.388/C566409 C05.660.207.620|C10.292.700.225.500|C10.500.300.820|C10.500.507.400.500|C10.574.500.495.820|C10.574.500.662|C10.668.829.800.300.820|C11.270.564|C11.640.451.451|C12.050.351.875.253.096.687|C12.050.351.875.253.309.388|C12.200.706.316.096.687|C12.200.706.316.309.388|C12.800.316.096.687|C12.800.316.309.388|C16.131.621.207.620|C16.131.666.300.820|C16.131.666.507.400.500|C16.131.939.316.096.687|C16.131.939.316.309.388|C16.320.290.564|C16.320.400.375.820|C16.320.400.630|C19.391.119.096.687|C19.391.119.309.388 Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy MESH:C566682 MESH:D006319|MESH:D007674|MESH:D008607|MESH:D015419 C09.218.458.341.887/C566682|C10.500.300.820/C566682|C10.574.500.495.820/C566682|C10.597.606.360/C566682|C10.597.751.418.341.887/C566682|C10.668.829.800.300.820/C566682|C12.050.351.968.419/C566682|C12.200.777.419/C566682|C12.950.419/C566682|C16.131.666.300.820/C566682|C16.320.400.375.820/C566682|C23.888.592.604.646/C566682|C23.888.592.763.393.341.887/C566682|F03.625.539/C566682 C09.218.458.341.887|C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.597.751.418.341.887|C10.668.829.800.300.820|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.604.646|C23.888.592.763.393.341.887|F03.625.539 Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Spastic Paraplegia Type 4 MESH:C580456 MESH:D010264|MESH:D015419 C10.500.300.820/C580456|C10.574.500.495.820/C580456|C10.597.622.669/C580456|C10.668.829.800.300.820/C580456|C16.131.666.300.820/C580456|C16.320.400.375.820/C580456|C23.888.592.636.637/C580456 C10.500.300.820|C10.574.500.495.820|C10.597.622.669|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.636.637 Spastic Paraplegia 4 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Spastic paraplegia type 5A, recessive MESH:C536871 OMIM:270800 MESH:D015419 C10.500.300.820/C536871|C10.574.500.495.820/C536871|C10.668.829.800.300.820/C536871|C16.131.666.300.820/C536871|C16.320.400.375.820/C536871 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Autosomal recessive spastic paraplegia|SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE|SPG5A Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia type 5B, recessive MESH:C536872 MESH:D015419 C10.500.300.820/C536872|C10.574.500.495.820/C536872|C10.668.829.800.300.820/C536872|C16.131.666.300.820/C536872|C16.320.400.375.820/C536872 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic Paraplegia Type 7 MESH:C580457 MESH:D010264|MESH:D015419 C10.500.300.820/C580457|C10.574.500.495.820/C580457|C10.597.622.669/C580457|C10.668.829.800.300.820/C580457|C16.131.666.300.820/C580457|C16.320.400.375.820/C580457|C23.888.592.636.637/C580457 C10.500.300.820|C10.574.500.495.820|C10.597.622.669|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.636.637 Hereditary Spastic Paraplegia, Paraplegin Type|Spastic Paraplegia 7 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Spastic Paraplegia Type 8 MESH:C580458 OMIM:603563 MESH:D010264|MESH:D015419 C10.500.300.820/C580458|C10.574.500.495.820/C580458|C10.597.622.669/C580458|C10.668.829.800.300.820/C580458|C16.131.666.300.820/C580458|C16.320.400.375.820/C580458|C23.888.592.636.637/C580458 C10.500.300.820|C10.574.500.495.820|C10.597.622.669|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C23.888.592.636.637 Autosomal Dominant Spastic Paraplegia 8|Hereditary Spastic Paraplegia 8|Spastic Paraplegia 8|Spastic paraplegia 8, autosomal dominant|Spg 8|SPG8 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Spastic Paraplegia With Associated Extrapyramidal Signs MESH:C566681 MESH:D001480|MESH:D015419 C10.228.140.079/C566681|C10.500.300.820/C566681|C10.574.500.495.820/C566681|C10.668.829.800.300.820/C566681|C16.131.666.300.820/C566681|C16.320.400.375.820/C566681 C10.228.140.079|C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia with Kallmann syndrome MESH:C536873 MESH:D015419|MESH:D017436 C10.500.300.820/C536873|C10.574.500.495.820/C536873|C10.668.829.800.300.820/C536873|C12.050.351.875.253.096.750/C536873|C12.200.706.316.096.750/C536873|C12.800.316.096.750/C536873|C16.131.666.300.820/C536873|C16.131.939.316.096.750/C536873|C16.320.400.375.820/C536873|C16.320.467/C536873|C19.391.119.096.750/C536873|C19.391.482.600/C536873 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C12.050.351.875.253.096.750|C12.200.706.316.096.750|C12.800.316.096.750|C16.131.666.300.820|C16.131.939.316.096.750|C16.320.400.375.820|C16.320.467|C19.391.119.096.750|C19.391.482.600 Familial spastic paraplegia with Kallmann's syndrome|Kallmann syndrome with spastic paraplegia|Spastic Paraplegia-Kallmann Syndrome Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Spastic Paraplegia With Myoclonic Epilepsy MESH:C564810 MESH:D004831|MESH:D015419 C10.228.140.490.375.130/C564810|C10.228.140.490.493.063/C564810|C10.500.300.820/C564810|C10.574.500.495.820/C564810|C10.668.829.800.300.820/C564810|C16.131.666.300.820/C564810|C16.320.400.375.820/C564810 C10.228.140.490.375.130|C10.228.140.490.493.063|C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spastic paraplegia with precocious puberty MESH:C536874 MESH:D011629|MESH:D015419 C10.500.300.820/C536874|C10.574.500.495.820/C536874|C10.668.829.800.300.820/C536874|C16.131.666.300.820/C536874|C16.320.400.375.820/C536874|C19.391.693/C536874 C10.500.300.820|C10.574.500.495.820|C10.668.829.800.300.820|C16.131.666.300.820|C16.320.400.375.820|C19.391.693 Familial spastic paraplegia, mental retardation, and precocious puberty|Precocious puberty with spastic paraplegia Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Nervous system disease Spastic Paresis, Glaucoma, and Mental Retardation MESH:C564809 MESH:D005901|MESH:D008607|MESH:D020336 C10.597.606.360/C564809|C10.597.636.500.500/C564809|C11.525.381/C564809|C23.888.592.604.646/C564809|C23.888.592.643.500.500/C564809|F03.625.539/C564809 C10.597.606.360|C10.597.636.500.500|C11.525.381|C23.888.592.604.646|C23.888.592.643.500.500|F03.625.539 Eye disease|Mental disorder|Nervous system disease|Signs and symptoms Spastic Pseudosclerosis MESH:C563024 MESH:D001927|MESH:D019636 C10.228.140/C563024|C10.574/C563024 C10.228.140|C10.574 Corticopallidodegeneration|Disseminated Encephalomyelopathy Nervous system disease Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation MESH:C564808 MESH:D008607|MESH:D011782|MESH:D012174 C10.597.606.360/C564808|C10.597.622.760/C564808|C11.270.684/C564808|C11.768.585.658.500/C564808|C16.320.290.684/C564808|C23.888.592.604.646/C564808|C23.888.592.636.786/C564808|F03.625.539/C564808 C10.597.606.360|C10.597.622.760|C11.270.684|C11.768.585.658.500|C16.320.290.684|C23.888.592.604.646|C23.888.592.636.786|F03.625.539 Eye disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms SPATIAL VISUALIZATION, APTITUDE FOR OMIM:313000 MESH:D014786 C10.597.751.941/313000|C11.966/313000|C23.888.592.763.941/313000 C10.597.751.941|C11.966|C23.888.592.763.941 VISUOSPATIAL/PERCEPTUAL ABILITIES;VSPA TURNER SYNDROME-ASSOCIATED NEUROCOGNITIVE PHENOTYPE, INCLUDED Eye disease|Nervous system disease|Signs and symptoms Specific Granule Deficiency MESH:C562873 OMIM:245480 MESH:D007960 C15.378.553/C562873 C15.378.553 Lactoferrin-Deficient Neutrophils|Neutrophil Lactoferrin Deficiency|SGD1|SPECIFIC GRANULE DEFICIENCY 1 Blood disease Specific Language Disorder MESH:D000080888 Language disorder that delays the mastery of oral language skills or in children who have no hearing loss or other developmental delays. MESH:D007805|MESH:D007859 C10.597.606.150.500.550.500|C23.888.592.604.150.500.550.500|C23.888.592.604.150.550.600 C10.597.606.150.500.550|C23.888.592.604.150.500.550|C23.888.592.604.150.550 Disorder, Specific Language|Disorders, Specific Language|Impairment, Specific Language|Impairments, Specific Language|Language Disorder, Specific|Language Disorders, Specific|Language Impairment, Specific|Language Impairments, Specific|Specific Language Disorders|Specific Language Impairment|Specific Language Impairments Nervous system disease|Signs and symptoms SPECIFIC LANGUAGE IMPAIRMENT 1 OMIM:606711 DO:DOID:0060244 MESH:D007805 C10.597.606.150.500.550/606711|C23.888.592.604.150.500.550/606711 C10.597.606.150.500.550|C23.888.592.604.150.500.550 SLI1|SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 16 Nervous system disease|Signs and symptoms SPECIFIC LANGUAGE IMPAIRMENT 2 OMIM:606712 DO:DOID:0060244 MESH:D007805 C10.597.606.150.500.550/606712|C23.888.592.604.150.500.550/606712 C10.597.606.150.500.550|C23.888.592.604.150.500.550 SLI2|SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19 Nervous system disease|Signs and symptoms SPECIFIC LANGUAGE IMPAIRMENT 3 OMIM:607134 DO:DOID:0060244 MESH:D007805 C10.597.606.150.500.550/607134|C23.888.592.604.150.500.550/607134 C10.597.606.150.500.550|C23.888.592.604.150.500.550 SLI3|SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13 Nervous system disease|Signs and symptoms Specific Language Impairment 4 MESH:C567288 OMIM:612514 MESH:D007805 C10.597.606.150.500.550/C567288|C23.888.592.604.150.500.550/C567288 C10.597.606.150.500.550|C23.888.592.604.150.500.550 SLI4 Nervous system disease|Signs and symptoms SPECIFIC LANGUAGE IMPAIRMENT 5 OMIM:615432 DO:DOID:0060244 MESH:D007805 C10.597.606.150.500.550/615432|C23.888.592.604.150.500.550/615432 C10.597.606.150.500.550|C23.888.592.604.150.500.550 SLI5 Nervous system disease|Signs and symptoms Specific Learning Disorder MESH:D000067559 Diagnosed when there are specific deficits in an individual’s ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individual’s performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from DSM-V) MESH:D007859 F03.625.562.700 F03.625.562 Disorder, Specific Learning|Learning Disorder, Specific|Learning Disorders, Specific|Specific Learning Disorders Mental disorder Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease MESH:C566677 MESH:D007805|MESH:D013285|MESH:D019066 C10.292.562.887/C566677|C10.597.606.150.500.550/C566677|C11.590.810/C566677|C23.550.291.812/C566677|C23.888.592.604.150.500.550/C566677 C10.292.562.887|C10.597.606.150.500.550|C11.590.810|C23.550.291.812|C23.888.592.604.150.500.550 Eye disease|Nervous system disease|Pathology (process)|Signs and symptoms Speech Disorders MESH:D013064 DO:DOID:92 Acquired or developmental conditions marked by an impaired ability to comprehend or generate spoken forms of language. MESH:D007806 C10.597.606.150.500.800|C23.888.592.604.150.500.800 C10.597.606.150.500|C23.888.592.604.150.500 Aprosodia|Aprosodias|Aprosodic Speech|Cluttering|Clutterings|Dysglossia|Dysglossias|Dyslalia|Dyslalias|Rhinolalia|Rhinolalias|Speech, Aprosodic|Verbal Fluency Disorder|Verbal Fluency Disorders Nervous system disease|Signs and symptoms Speech disturbance - use of faulty phrasing and unrelated words MESH:C538446 MESH:D013064 C10.597.606.150.500.800/C538446|C23.888.592.604.150.500.800/C538446 C10.597.606.150.500.800|C23.888.592.604.150.500.800 Nervous system disease|Signs and symptoms Speech Sound Disorder MESH:D066229 Persistent difficulty with speech sound production such that it interferes with verbal communication. MESH:D003147 F03.625.374.500 F03.625.374 Disorder, Phonological|Disorder, Speech Sound|Disorders, Phonological|Disorders, Speech Sound|Phonological Disorder|Phonological Disorders|Speech Sound Disorders Mental disorder Speech-Sound Disorder, hereditary MESH:C563928 OMIM:608445 MESH:D066229 F03.625.374.500/C563928 F03.625.374.500 SPEECH-SOUND DISORDER|SSD Mental disorder Spermatic Cord Torsion MESH:D013086 DO:DOID:11996 The twisting of the SPERMATIC CORD due to an anatomical abnormality that left the TESTIS mobile and dangling in the SCROTUM. The initial effect of testicular torsion is obstruction of venous return. Depending on the duration and degree of cord rotation, testicular symptoms range from EDEMA to interrupted arterial flow and testicular pain. If blood flow to testis is absent for 4 to 6 h, SPERMATOGENESIS may be permanently lost. MESH:D005832 C12.100.500.693|C12.200.294.693 C12.100.500|C12.200.294 Spermatic Cord Torsions|Testicular Torsion|Testicular Torsions|Torsion Of Testicular Cord|Torsion, Spermatic Cord|Torsions, Spermatic Cord|Torsions, Testicular|Torsion, Testicular Urogenital disease (male) Spermatocele MESH:D013088 DO:DOID:11997 A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions. MESH:D003560|MESH:D005832 C12.100.500.731|C12.200.294.731|C23.300.306.750 C12.100.500|C12.200.294|C23.300.306 Cyst, Epididymal|Cysts, Epididymal|Epididymal Cyst|Epididymal Cysts|Spermatoceles Pathology (anatomical condition)|Urogenital disease (male) SPERMATOGENIC FAILURE 10 OMIM:614822 DO:DOID:0070178 MESH:D007248 C12.100.500.430/614822|C12.100.750.700/614822|C12.200.294.430/614822 C12.100.500.430|C12.100.750.700|C12.200.294.430 SPERMATOGENIC FAILURE WITH DEFECTIVE SPERM ANNULUS|SPGF10 Urogenital disease (male) SPERMATOGENIC FAILURE 11 OMIM:615081 DO:DOID:0070180 MESH:D007248 C12.100.500.430/615081|C12.100.750.700/615081|C12.200.294.430/615081 C12.100.500.430|C12.100.750.700|C12.200.294.430 SPGF11 Urogenital disease (male) SPERMATOGENIC FAILURE 12 OMIM:615413 DO:DOID:0070171 MESH:D007248 C12.100.500.430/615413|C12.100.750.700/615413|C12.200.294.430/615413 C12.100.500.430|C12.100.750.700|C12.200.294.430 SPGF12 Urogenital disease (male) SPERMATOGENIC FAILURE 13 OMIM:615841 DO:DOID:0070182 MESH:D007248 C12.100.500.430/615841|C12.100.750.700/615841|C12.200.294.430/615841 C12.100.500.430|C12.100.750.700|C12.200.294.430 SPGF13 Urogenital disease (male) SPERMATOGENIC FAILURE 14 OMIM:615842 DO:DOID:0070179 MESH:D007248 C12.100.500.430/615842|C12.100.750.700/615842|C12.200.294.430/615842 C12.100.500.430|C12.100.750.700|C12.200.294.430 SPGF14 Urogenital disease (male) SPERMATOGENIC FAILURE 15 OMIM:616950 DO:DOID:0070172 MESH:D007248 C12.100.500.430/616950|C12.100.750.700/616950|C12.200.294.430/616950 C12.100.500.430|C12.100.750.700|C12.200.294.430 SPGF15 Urogenital disease (male) SPERMATOGENIC FAILURE 16 OMIM:617187 DO:DOID:0070184 MESH:D007248 C12.100.500.430/617187|C12.100.750.700/617187|C12.200.294.430/617187 C12.100.500.430|C12.100.750.700|C12.200.294.430 ACEPHALIC SPERMATOZOA SYNDROME|SPGF16 Urogenital disease (male) SPERMATOGENIC FAILURE 17 OMIM:617214 DO:DOID:0070174 MESH:D007248 C12.100.500.430/617214|C12.100.750.700/617214|C12.200.294.430/617214 C12.100.500.430|C12.100.750.700|C12.200.294.430 MALE INFERTILITY DUE TO OOCYTE ACTIVATION FAILURE|SPGF17 Urogenital disease (male) SPERMATOGENIC FAILURE 2 OMIM:108420 DO:DOID:0070164 MESH:D007248 C12.100.500.430/108420|C12.100.750.700/108420|C12.200.294.430/108420 C12.100.500.430|C12.100.750.700|C12.200.294.430 ASG|ASPERMIOGENESIS FACTOR|SPGF2 Urogenital disease (male) SPERMATOGENIC FAILURE 4 OMIM:270960 DO:DOID:0070176 MESH:D053713 C12.100.500.430.380/270960|C12.100.750.700.380/270960|C12.200.294.430.380/270960 C12.100.500.430.380|C12.100.750.700.380|C12.200.294.430.380 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS|AZOOSPERMIA WITH MATURATION ARREST|RPRGL4, INCLUDED|SPERMATOGENESIS ARREST PREGNANCY LOSS, RECURRENT, 4, INCLUDED|SPGF4 Urogenital disease (male) SPERMATOGENIC FAILURE 6 OMIM:102530 DO:DOID:0070167 MESH:D007248 C12.100.500.430/102530|C12.100.750.700/102530|C12.200.294.430/102530 C12.100.500.430|C12.100.750.700|C12.200.294.430 ACROSOME MALFORMATION OF SPERMATOZOA|GLOBOZOOSPERMIA|ROUND-HEADED SPERMATOZOA|SPERMATOZOA, ROUND-HEADED|SPGF6 Urogenital disease (male) Spermatogenic Failure 7 MESH:C567832 DO:DOID:0070173|OMIM:612997 MESH:D053627 C12.100.500.430.253/C567832|C12.100.750.700.253/C567832|C12.200.294.430.253/C567832 C12.100.500.430.253|C12.100.750.700.253|C12.200.294.430.253 Male Infertility, Nonsyndromic, Autosomal Recessive|MIAR|SPGF7 Urogenital disease (male) SPERMATOGENIC FAILURE 8 OMIM:613957 DO:DOID:0070169 MESH:D007248 C12.100.500.430/613957|C12.100.750.700/613957|C12.200.294.430/613957 C12.100.500.430|C12.100.750.700|C12.200.294.430 SPGF8 Urogenital disease (male) SPERMATOGENIC FAILURE 9 OMIM:613958 DO:DOID:0111156 MESH:D007248 C12.100.500.430/613958|C12.100.750.700/613958|C12.200.294.430/613958 C12.100.500.430|C12.100.750.700|C12.200.294.430 GLOBOZOOSPERMIA, COMPLETE|GLOBOZOOSPERMIA, TOTAL|SPGF9 Urogenital disease (male) Spermatogenic Failure, Nonobstructive, Y-Linked MESH:C564030 DO:DOID:0070187|OMIM:415000 MESH:D007248|MESH:D050174 C12.100.500.430/C564030|C12.100.750.700/C564030|C12.200.294.430/C564030|C16.320.338/C564030 C12.100.500.430|C12.100.750.700|C12.200.294.430|C16.320.338 AZF REGIONS, INCLUDED|Azoospermia, Nonobstructive, Y-Linked|Oligospermia, Nonobstructive, Y-Linked|Oligozoospermia, Nonobstructive, Y-Linked|Spermatogenic Arrest, Y-Linked|SPERMATOGENIC ARREST, Y-LINKED AZOOSPERMIA FACTOR REGIONS, INCLUDED|SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED|SPERMATOGENIC FAILURE, Y-LINKED, 2|SPGFY2 Genetic disease (inborn)|Urogenital disease (male) SPERMATOGENIC FAILURE, X-LINKED, 2 OMIM:309120 DO:DOID:0070185 MESH:D007248 C12.100.500.430/309120|C12.100.750.700/309120|C12.200.294.430/309120 C12.100.500.430|C12.100.750.700|C12.200.294.430 MALE INFERTILITY FROM DEFECT IN MEIOSIS|SPGFX2 Urogenital disease (male) Sphenoid Sinusitis MESH:D015524 DO:DOID:10794 Inflammation of the NASAL MUCOSA in the SPHENOID SINUS. Isolated sphenoid sinusitis is uncommon. It usually occurs in conjunction with other paranasal sinusitis. MESH:D012852 C01.748.749.827|C08.460.692.752.827|C08.730.749.827|C09.603.692.752.827 C01.748.749|C08.460.692.752|C08.730.749|C09.603.692.752 Sinusitides, Sphenoid|Sinusitides, Sphenoidal|Sinusitis, Sphenoid|Sinusitis, Sphenoidal|Sphenoidal Sinusitides|Sphenoidal Sinusitis|Sphenoid Sinusitides Ear-nose-throat disease|Respiratory tract disease Spherocytosis, Hereditary MESH:D013103 DO:DOID:12971 A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions. MESH:D000745 C15.378.071.141.150.785|C16.320.070.785 C15.378.071.141.150|C16.320.070 Hereditary Spherocytoses|Spherocytoses, Hereditary Blood disease|Genetic disease (inborn) Spherocytosis, Type 1 MESH:C567159 OMIM:182900 MESH:D013103 C15.378.071.141.150.785/C567159|C16.320.070.785/C567159 C15.378.071.141.150.785|C16.320.070.785 Congenital Spherocytic Hemolytic Anemia|Congenital Spherocytosis|HS|HS1|SPH|SPH1|Spherocytic Anemia|Spherocytosis, Hereditary, 1 Blood disease|Genetic disease (inborn) SPHEROCYTOSIS, TYPE 2 OMIM:616649 DO:DOID:0110917 MESH:D013103 C15.378.071.141.150.785/616649|C16.320.070.785/616649 C15.378.071.141.150.785|C16.320.070.785 HS2|SPH2|SPHEROCYTOSIS, HEREDITARY, 2 Blood disease|Genetic disease (inborn) Spherocytosis, Type 3 MESH:C567489 OMIM:270970 MESH:D013103 C15.378.071.141.150.785/C567489|C16.320.070.785/C567489 C15.378.071.141.150.785|C16.320.070.785 HS3|SPH3|Spherocytosis, Hereditary, 3 Blood disease|Genetic disease (inborn) Spherocytosis, Type 4 MESH:C567208 OMIM:612653 MESH:D013103 C15.378.071.141.150.785/C567208|C16.320.070.785/C567208 C15.378.071.141.150.785|C16.320.070.785 HS4|SPH4|Spherocytosis, Hereditary, 4 Blood disease|Genetic disease (inborn) Spherocytosis, Type 5 MESH:C567202 OMIM:612690 MESH:D013103 C15.378.071.141.150.785/C567202|C16.320.070.785/C567202 C15.378.071.141.150.785|C16.320.070.785 HS5|SPH5|Spherocytosis, Hereditary, 5 Blood disease|Genetic disease (inborn) Spheroid body myopathy MESH:C000598645 DO:DOID:0080094 MESH:D020914 C05.651.575/C000598645|C10.668.491.550/C000598645 C05.651.575|C10.668.491.550 Autosomal dominant spheroid body myopathy Musculoskeletal disease|Nervous system disease Sphincter of Oddi Dysfunction MESH:D046628 Organic or functional motility disorder involving the SPHINCTER OF ODDI and associated with biliary COLIC. Pathological changes are most often seen in the COMMON BILE DUCT sphincter, and less commonly the PANCREATIC DUCT sphincter. MESH:D001657 C06.130.120.250.098.800 C06.130.120.250.098 Sphincter of Oddi Dyskinesia|Sphincter of Oddi Stenosis Digestive system disease Sphingolipidoses MESH:D013106 DO:DOID:1927 A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. MESH:D008064|MESH:D020140 C10.228.140.163.100.435.825|C16.320.565.189.435.825|C16.320.565.398.641.803|C16.320.565.595.554.825|C18.452.132.100.435.825|C18.452.584.563.641.803|C18.452.648.189.435.825|C18.452.648.398.641.803|C18.452.648.595.554.825 C10.228.140.163.100.435|C16.320.565.189.435|C16.320.565.398.641|C16.320.565.595.554|C18.452.132.100.435|C18.452.584.563.641|C18.452.648.189.435|C18.452.648.398.641|C18.452.648.595.554 Sphingolipidosis|Sphingolipid Storage Disease|Sphingolipid Storage Diseases|Storage Disease, Sphingolipid|Storage Diseases, Sphingolipid Genetic disease (inborn)|Metabolic disease|Nervous system disease Spider Bites MESH:D001098 The effects, both local and systemic, caused by the bites of SPIDERS. MESH:D001733 C25.723.127.723|C26.176.790 C25.723.127|C26.176 Arachnidism|Arachnidism, Necrotic|Bite, Spider|Bites, Spider|Necrotic Arachnidism|Spider Bite Wounds and injuries Spina Bifida Cystica MESH:D016137 A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5) MESH:D016135 C10.500.680.800.730|C16.131.666.680.800.730 C10.500.680.800|C16.131.666.680.800 Open Spina Bifida|Spina Bifida Aperta|Spina Bifida Manifesta|Spina Bifida, Open Congenital abnormality|Nervous system disease Spina Bifida, Folate-Sensitive MESH:C566648 MESH:D016135 C10.500.680.800/C566648|C16.131.666.680.800/C566648 C10.500.680.800|C16.131.666.680.800 Congenital abnormality|Nervous system disease Spina Bifida Occulta MESH:D016136 DO:DOID:0080073 A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. The lesion is also covered by skin. L5 and S1 are the most common vertebrae involved. The condition may be associated with an overlying area of hyperpigmented skin, a dermal sinus, or an abnormal patch of hair. The majority of individuals with this malformation are asymptomatic although there is an increased incidence of tethered cord syndrome and lumbar SPONDYLOSIS. (From Joynt, Clinical Neurology, 1992, Ch55, p34) MESH:D016135 C10.500.680.800.750|C16.131.666.680.800.750 C10.500.680.800|C16.131.666.680.800 Closed Spinal Bifida|Dermal Sinus|Occult Spina Bifida|Sinus, Dermal|Spina Bifida, Occult|Spinal Bifida, Closed Congenital abnormality|Nervous system disease Spina Bifida, X-Linked MESH:C564459 MESH:D016135|MESH:D040181 C10.500.680.800/C564459|C16.131.666.680.800/C564459|C16.320.322/C564459 C10.500.680.800|C16.131.666.680.800|C16.320.322 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Spinal Arterial Venous Malformations with Cutaneous Hemangiomas MESH:C566282 MESH:D001165|MESH:D006391 C04.557.645.375/C566282|C14.240.850.750/C566282|C14.907.150/C566282|C16.131.240.850.750/C566282 C04.557.645.375|C14.240.850.750|C14.907.150|C16.131.240.850.750 Cancer|Cardiovascular disease|Congenital abnormality Spinal Cord Compression MESH:D013117 Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence. MESH:D013118|MESH:D013119 C10.228.854.761|C26.819.678 C10.228.854|C26.819 Compression, Spinal Cord|Compressions, Spinal Cord|Compressive Myelopathy|Conus Medullaris Syndrome|Conus Medullaris Syndromes|Extramedullary Spinal Cord Compression|Myelopathy, Compressive|Spinal Cord Compression, Extramedullary|Spinal Cord Compressions|Syndrome, Conus Medullaris|Syndromes, Conus Medullaris Nervous system disease|Wounds and injuries Spinal Cord Diseases MESH:D013118 DO:DOID:319 Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord. MESH:D002493 C10.228.854 C10.228 Myelopathies|Myelopathy|Spinal Cord Disease|Spinal Cord Disorder|Spinal Cord Disorders Nervous system disease Spinal Cord Injuries MESH:D013119 Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.). MESH:D013118|MESH:D014947|MESH:D020196 C10.228.854.763|C10.900.850|C26.819 C10.228.854|C10.900|C26 Contusion, Spinal Cord|Contusions, Spinal Cord|Cord Contusion, Spinal|Cord Contusions, Spinal|Cord Injuries, Spinal|Cord Injury, Spinal|Cord Laceration, Spinal|Cord Lacerations, Spinal|Cord Transection, Spinal|Cord Transections, Spinal|Cord Trauma, Spinal|Cord Traumas, Spinal|Injuries, Spinal Cord|Injury, Spinal Cord|Laceration, Spinal Cord|Lacerations, Spinal Cord|Myelopathies, Post-Traumatic|Myelopathies, Traumatic|Myelopathy, Post-Traumatic|Myelopathy, Traumatic|Post-Traumatic Myelopathies|Post Traumatic Myelopathy|Post-Traumatic Myelopathy|Spinal Cord Contusion|Spinal Cord Contusions|Spinal Cord Injury|Spinal Cord Laceration|Spinal Cord Lacerations|Spinal Cord Transection|Spinal Cord Transections|Spinal Cord Trauma|Spinal Cord Traumas|Transection, Spinal Cord|Transections, Spinal Cord|Trauma, Spinal Cord|Traumas, Spinal Cord|Traumatic Myelopathies|Traumatic Myelopathy Nervous system disease|Wounds and injuries Spinal Cord Ischemia MESH:D020760 DO:DOID:178 Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue. MESH:D020758 C10.228.854.785.650|C14.907.790.550 C10.228.854.785|C14.907.790 Cord Ischemia, Spinal|Cord Ischemias, Spinal|Experimental Spinal Cord Ischemia|Ischemia, Spinal Cord|Ischemias, Spinal Cord|Ischemic Myelopathies|Ischemic Myelopathy|Myelopathies, Ischemic|Myelopathy, Ischemic|Spinal Cord Ischemia, Experimental|Spinal Cord Ischemias Cardiovascular disease|Nervous system disease Spinal Cord Neoplasms MESH:D013120 DO:DOID:5612 Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA. MESH:D013118|MESH:D016543 C04.588.614.250.803|C10.228.854.765|C10.551.240.750 C04.588.614.250|C10.228.854|C10.551.240 Intradural Extramedullary Spinal Cord Neoplasms|Intradural-Extramedullary Spinal Cord Neoplasms|Intramedullary Spinal Cord Neoplasms|Intramedullary Spinal Cord Neoplasms, Primary|Neoplasm, Spinal Cord|Neoplasms, Spinal Cord|Primary Intramedullary Spinal Cord Neoplasms|Primary Spinal Cord Neoplasms, Intramedullary|Spinal Cord Neoplasm|Spinal Cord Neoplasms, Benign|Spinal Cord Neoplasms, Intradural Extramedullary|Spinal Cord Neoplasms, Intradural-Extramedullary|Spinal Cord Neoplasms, Intramedullary|Spinal Cord Neoplasms, Malignant|Spinal Cord Neoplasms, Primary Intramedullary|Spinal Cord Tumor|Spinal Cord Tumors|Tumor, Spinal Cord|Tumors, Spinal Cord Cancer|Nervous system disease Spinal Cord Vascular Diseases MESH:D020758 DO:DOID:178 Pathological processes involving any of the BLOOD VESSELS feeding the SPINAL CORD, such as the anterior and paired posterior spinal arteries or their many branches. Disease processes may include ATHEROSCLEROSIS; EMBOLISM; and ARTERIOVENOUS MALFORMATIONS leading to ISCHEMIA or HEMORRHAGE into the spinal cord (hematomyelia). MESH:D013118|MESH:D014652 C10.228.854.785|C14.907.790 C10.228.854|C14.907 Hematomyelia|Hematomyelias|Posterior Spinal Artery Syndrome|Vascular Diseases, Spinal Cord Cardiovascular disease|Nervous system disease Spinal Curvatures MESH:D013121 Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS). MESH:D013122 C05.116.900.800 C05.116.900 Curvature, Spinal|Curvatures, Spinal|Spinal Curvature Musculoskeletal disease Spinal Diseases MESH:D013122 Diseases involving the SPINE. MESH:D001847 C05.116.900 C05.116 Disease, Spinal|Diseases, Spinal|Spinal Disease Musculoskeletal disease Spinal Dysplasia, Anhalt Type MESH:C563348 MESH:D010009 C05.116.099.708/C563348|C16.320.728/C563348 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Spinal Dysraphism MESH:D016135 DO:DOID:0080016 Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34) MESH:D009436 C10.500.680.800|C16.131.666.680.800 C10.500.680|C16.131.666.680 Bifida, Spina|Cleft Spine|Cleft Spines|Dysraphia, Spinal|Dysraphicus, Status|Dysraphism, Spinal|Dysraphisms, Spinal|Open Spine|Open Spines|Rachischises|Rachischisis|Schistorrhachis|Spina Bifida|Spina Bifidas|Spinal Dysraphia|Spinal Dysraphias|Spinal Dysraphisms|Spine, Cleft|Spine, Open|Status Dysraphicus Congenital abnormality|Nervous system disease Spinal Fractures MESH:D016103 Broken bones in the vertebral column. MESH:D013124|MESH:D050723 C26.117.500.500|C26.404.812 C26.117.500|C26.404 Fracture, Hangman|Fracture, Hangman's|Fracture, Spinal|Fractures, Spinal|Hangman Fracture|Hangman's Fracture|Hangmans Fracture|Spinal Fracture Wounds and injuries Spinal Injuries MESH:D013124 Injuries involving the vertebral column. MESH:D019567 C26.117.500 C26.117 Injuries, Spinal|Injury, Spinal|Spinal Injury Wounds and injuries Spinal intradural arachnoid cysts MESH:C536878 MESH:D013118|MESH:D016080 C04.182.044/C536878|C04.588.614.250.387.100/C536878|C10.228.854/C536878|C10.500.142.100/C536878|C10.551.240.375.100/C536878|C16.131.666.142.100/C536878 C04.182.044|C04.588.614.250.387.100|C10.228.854|C10.500.142.100|C10.551.240.375.100|C16.131.666.142.100 Arachnoid cysts, spinal intradural Cancer|Congenital abnormality|Nervous system disease Spinal Muscular Atrophies of Childhood MESH:D014897 DO:DOID:0050530|DO:DOID:0060160|DO:DOID:12376|DO:DOID:13137|OMIM:158600|OMIM:253300|OMIM:253400|OMIM:253550 A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3) MESH:D009134|MESH:D020271 C10.228.854.468.800|C10.574.500.812|C10.574.562.500.750|C10.668.467.500.750|C16.320.400.765 C10.228.854.468|C10.574.500|C10.574.562.500|C10.668.467.500|C16.320.400 HMN (Hereditary Motor Neuropathy) Proximal Type I|Infantile Muscular Atrophy|Infantile Spinal Muscular Atrophy|Juvenile Muscular Atrophy|Juvenile Spinal Muscular Atrophy|Kugelberg Welander Disease|Kugelberg-Welander Disease|Kugelberg Welander Syndrome|Kugelberg-Welander Syndrome|KUGELBERG-WELANDER SYNDROME, AUTOSOMAL DOMINANT|KWS|Muscular Atrophy, Infantile|Muscular Atrophy, Juvenile|Muscular Atrophy, Spinal, Infantile|Muscular Atrophy, Spinal, Infantile Chronic Form|Muscular Atrophy, Spinal, Intermediate Type|Muscular Atrophy, Spinal, Type I|Muscular Atrophy, Spinal, Type II|Muscular Atrophy, Spinal, Type III|Proximal Hereditary Motor Neuropathy Type I|SMA1|SMA2|SMA3|SMA I|SMA II|SMA III|SMA, Infantile Acute Form|SMALED|SMALED1|Spinal Muscular Atrophy 1|SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT|Spinal Muscular Atrophy, Infantile|Spinal Muscular Atrophy, Juvenile|SPINAL MUSCULAR ATROPHY, JUVENILE, PROXIMAL, AUTOSOMAL DOMINANT|SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT|Spinal Muscular Atrophy, Mild Childhood and Adolescent Form|Spinal Muscular Atrophy Type 2|Spinal Muscular Atrophy, Type 3|Spinal Muscular Atrophy Type I|Spinal Muscular Atrophy, Type I|Spinal Muscular Atrophy Type II|Spinal Muscular Atrophy, Type II|Spinal Muscular Atrophy Type III|Spinal Muscular Atrophy, Type III|Type III Spinal Muscular Atrophy|Type II Spinal Muscular Atrophy|Type I Spinal Muscular Atrophy|Werdnig Hoffman Disease|Werdnig Hoffmann Disease|Werdnig-Hoffmann Disease Genetic disease (inborn)|Nervous system disease Spinal muscular atrophy 4 MESH:C538417 OMIM:271150 MESH:D009134 C10.228.854.468/C538417|C10.574.562.500/C538417|C10.668.467.500/C538417 C10.228.854.468|C10.574.562.500|C10.668.467.500 SMA4|SPINAL MUSCULAR ATROPHY, ADULT FORM|SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL RECESSIVE|SPINAL MUSCULAR ATROPHY, TYPE IV Nervous system disease Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant MESH:C563560 MESH:D014897 C10.228.854.468.800/C563560|C10.574.500.812/C563560|C10.574.562.500.750/C563560|C10.668.467.500.750/C563560|C16.320.400.765/C563560 C10.228.854.468.800|C10.574.500.812|C10.574.562.500.750|C10.668.467.500.750|C16.320.400.765 Kugelberg-Welander Syndrome, Autosomal Dominant|Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant Genetic disease (inborn)|Nervous system disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 MESH:C564626 DO:DOID:0111211|OMIM:607088 MESH:D009134 C10.228.854.468/C564626|C10.574.562.500/C564626|C10.668.467.500/C564626 C10.228.854.468|C10.574.562.500|C10.668.467.500 DHMN3|DHMN4|DSMA3|HMN3|HMN4|HMN III|HMN IV|HMNR3|NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 3|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE III|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IV|Neuronopathy, Distal Hereditary Motor, Type III|Neuronopathy, Distal Hereditary Motor, Type IV|NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 3|NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IV|Neuropathy, Distal Hereditary Motor, Type IV|SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3 Nervous system disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 MESH:C567023 DO:DOID:0111213|OMIM:611067 MESH:D014897 C10.228.854.468.800/C567023|C10.574.500.812/C567023|C10.574.562.500.750/C567023|C10.668.467.500.750/C567023|C16.320.400.765/C567023 C10.228.854.468.800|C10.574.500.812|C10.574.562.500.750|C10.668.467.500.750|C16.320.400.765 Dsma4|HMNR4|NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4|NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4|SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 Genetic disease (inborn)|Nervous system disease Spinal Muscular Atrophy, Distal, Congenital Nonprogressive MESH:C563981 OMIM:600175 MESH:D009134 C10.228.854.468/C563981|C10.574.562.500/C563981|C10.668.467.500/C563981 C10.228.854.468|C10.574.562.500|C10.668.467.500 DHMN8|HMN8|HMND8|NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8|NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII|NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII|Spinal Muscular Atrophy, Congenital Benign, with Contractures|SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE Nervous system disease Spinal Muscular Atrophy, Distal, X-Linked 3 MESH:C564506 DO:DOID:0111196|OMIM:300489 MESH:D009134|MESH:D040181 C10.228.854.468/C564506|C10.574.562.500/C564506|C10.668.467.500/C564506|C16.320.322/C564506 C10.228.854.468|C10.574.562.500|C10.668.467.500|C16.320.322 DSMAX|HMNX|NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED|NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED|SMAX3|SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3|Spinal Muscular Atrophy, Distal, X-Linked Recessive Genetic disease (inborn)|Nervous system disease Spinal Muscular Atrophy, Facioscapulohumeral Type MESH:C566674 MESH:D009134 C10.228.854.468/C566674|C10.574.562.500/C566674|C10.668.467.500/C566674 C10.228.854.468|C10.574.562.500|C10.668.467.500 FSHSMA Nervous system disease Spinal muscular atrophy, Jerash type MESH:C535715 DO:DOID:0111065|OMIM:605726 MESH:D009134 C10.228.854.468/C535715|C10.574.562.500/C535715|C10.668.467.500/C535715 C10.228.854.468|C10.574.562.500|C10.668.467.500 DSMA2|Hereditary motor neuropathy, Jerash type|HMNJ|HMNR2|Motor neuropathy, distal, Jerash type|NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2|Neuronopathy, Distal Hereditary Motor, Jerash Type|NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2|Neuropathy, distal hereditary motor, Jerash type|Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2|SPINAL MUSCULAR ATROPHY, JERASH TYPE Nervous system disease SPINAL MUSCULAR ATROPHY, JOKELA TYPE OMIM:615048 DO:DOID:0081356 MESH:D009134 C10.228.854.468/615048|C10.574.562.500/615048|C10.668.467.500/615048 C10.228.854.468|C10.574.562.500|C10.668.467.500 SMAJ Nervous system disease Spinal Muscular Atrophy, Late-Onset, Finkel Type MESH:C566673 OMIM:182980 MESH:D009134 C10.228.854.468/C566673|C10.574.562.500/C566673|C10.668.467.500/C566673 C10.228.854.468|C10.574.562.500|C10.668.467.500 Finkel Late-Adult Type SMA|SMAFK|Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant Nervous system disease Spinal muscular atrophy, Ryukyuan type MESH:C536881 MESH:D009134 C10.228.854.468/C536881|C10.574.562.500/C536881|C10.668.467.500/C536881 C10.228.854.468|C10.574.562.500|C10.668.467.500 Ryukyuan muscular atrophy Nervous system disease Spinal Muscular Atrophy, Segmental MESH:C566670 MESH:D009134 C10.228.854.468/C566670|C10.574.562.500/C566670|C10.668.467.500/C566670 C10.228.854.468|C10.574.562.500|C10.668.467.500 Nervous system disease Spinal Muscular Atrophy, Type IV MESH:C563948 DO:DOID:0050529 MESH:D009134 C10.228.854.468/C563948|C10.574.562.500/C563948|C10.668.467.500/C563948 C10.228.854.468|C10.574.562.500|C10.668.467.500 Spinal Muscular Atrophy, Adult Form|Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive Nervous system disease Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures MESH:C564805 MESH:D014897|MESH:D050723 C10.228.854.468.800/C564805|C10.574.500.812/C564805|C10.574.562.500.750/C564805|C10.668.467.500.750/C564805|C16.320.400.765/C564805|C26.404/C564805 C10.228.854.468.800|C10.574.500.812|C10.574.562.500.750|C10.668.467.500.750|C16.320.400.765|C26.404 Genetic disease (inborn)|Nervous system disease|Wounds and injuries SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 OMIM:616866 MESH:D014897|MESH:D050723 C10.228.854.468.800/616866|C10.574.500.812/616866|C10.574.562.500.750/616866|C10.668.467.500.750/616866|C16.320.400.765/616866|C26.404/616866 C10.228.854.468.800|C10.574.500.812|C10.574.562.500.750|C10.668.467.500.750|C16.320.400.765|C26.404 SMABF1|SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES Genetic disease (inborn)|Nervous system disease|Wounds and injuries SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 OMIM:616867 MESH:D014897|MESH:D050723 C10.228.854.468.800/616867|C10.574.500.812/616867|C10.574.562.500.750/616867|C10.668.467.500.750/616867|C16.320.400.765/616867|C26.404/616867 C10.228.854.468.800|C10.574.500.812|C10.574.562.500.750|C10.668.467.500.750|C16.320.400.765|C26.404 SMABF2 Genetic disease (inborn)|Nervous system disease|Wounds and injuries Spinal Muscular Atrophy with Mental Retardation MESH:C564807 MESH:D008607|MESH:D009134 C10.228.854.468/C564807|C10.574.562.500/C564807|C10.597.606.360/C564807|C10.668.467.500/C564807|C23.888.592.604.646/C564807|F03.625.539/C564807 C10.228.854.468|C10.574.562.500|C10.597.606.360|C10.668.467.500|C23.888.592.604.646|F03.625.539 Mental disorder|Nervous system disease|Signs and symptoms Spinal Muscular Atrophy with Microcephaly and Mental Subnormality MESH:C564806 MESH:D008607|MESH:D008831|MESH:D014897 C05.660.207.620/C564806|C10.228.854.468.800/C564806|C10.500.507.400.500/C564806|C10.574.500.812/C564806|C10.574.562.500.750/C564806|C10.597.606.360/C564806|C10.668.467.500.750/C564806|C16.131.621.207.620/C564806|C16.131.666.507.400.500/C564806|C16.320.400.765/C564806|C23.888.592.604.646/C564806|F03.625.539/C564806 C05.660.207.620|C10.228.854.468.800|C10.500.507.400.500|C10.574.500.812|C10.574.562.500.750|C10.597.606.360|C10.668.467.500.750|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.400.765|C23.888.592.604.646|F03.625.539 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY OMIM:159950 DO:DOID:0111527 MESH:D014897|MESH:D020191 C10.228.140.490.375.130.650/159950|C10.228.140.490.493.063.650/159950|C10.228.854.468.800/159950|C10.574.500.812/159950|C10.574.562.500.750/159950|C10.668.467.500.750/159950|C16.320.400.765/159950 C10.228.140.490.375.130.650|C10.228.140.490.493.063.650|C10.228.854.468.800|C10.574.500.812|C10.574.562.500.750|C10.668.467.500.750|C16.320.400.765 MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY|SMAPME Genetic disease (inborn)|Nervous system disease Spinal muscular atrophy with respiratory distress 1 MESH:C536880 OMIM:604320 MESH:D009134|MESH:D012127 C08.381.840.500/C536880|C08.618.840.500/C536880|C10.228.854.468/C536880|C10.574.562.500/C536880|C10.668.467.500/C536880|C16.614.521.563/C536880 C08.381.840.500|C08.618.840.500|C10.228.854.468|C10.574.562.500|C10.668.467.500|C16.614.521.563 Autosomal Recessive Distal Spinal Muscular Atrophy 1|Dhmn6|Diaphragmatic Spinal Muscular Atrophy|Distal Hereditary Motor Neuronopathy Type Vi|Distal Spinal Muscular Atrophy Type 1|Dsma1|Hmn6|HMNR1|Hmnvi|HMN VI|NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1|NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VI|Neuronopathy, Distal Hereditary Motor, Type VI|Neuronopathy, Severe Infantile Axonal, With Respiratory Failure|NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1|Severe Infantile Axonal Neuropathy With Respiratory Failure|Sianrf|Smard1|Spinal Muscular Atrophy, Diaphragmatic|Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1|Spinal Muscular Atrophy with Respiratory Distress|SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1|Spinal Muscular Atrophy with Respiratory Distress Type 1 Infant-newborn disease|Nervous system disease|Respiratory tract disease Spinal Neoplasms MESH:D013125 DO:DOID:5612 New abnormal growth of tissue in the SPINE. MESH:D001859|MESH:D013122 C04.588.149.828|C05.116.231.828|C05.116.900.801 C04.588.149|C05.116.231|C05.116.900 Neoplasm, Spinal|Neoplasms, Spinal|Spinal Neoplasm Cancer|Musculoskeletal disease Spinal Osteochondrosis MESH:D055035 A bone disorder involving ossification centers (EPIPHYSES) of the VERTEBRAL COLUMN. MESH:D013122|MESH:D055034 C05.116.821.500|C05.116.900.808 C05.116.821|C05.116.900 Osteochondroses, Spinal|Osteochondrosis of Spine|Osteochondrosis, Spinal|Spinal Osteochondroses|Spine Osteochondroses|Spine Osteochondrosis Musculoskeletal disease Spinal Osteophytosis MESH:D013128 Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS. MESH:D013122 C05.116.900.815 C05.116.900 Osteophytoses, Spinal|Osteophytosis, Spinal|Spinal Osteophytoses Musculoskeletal disease Spinal Stenosis MESH:D013130 DO:DOID:6725 Narrowing of the spinal canal. MESH:D013122 C05.116.900.825 C05.116.900 Spinal Stenoses|Stenoses, Spinal|Stenosis, Spinal Musculoskeletal disease Spinocerebellar Ataxia 10 MESH:C566874 OMIM:603516 MESH:D020754 C10.228.140.252.190.530/C566874|C10.228.140.252.700.700/C566874|C10.228.854.787.875/C566874|C10.574.500.825.700/C566874|C10.597.350.090.500.530/C566874|C16.320.400.780.875/C566874 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 Sca10|SCA10 Spinocerebellar Ataxia 10 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia 11 MESH:C565772 OMIM:604432 MESH:D020754 C10.228.140.252.190.530/C565772|C10.228.140.252.700.700/C565772|C10.228.854.787.875/C565772|C10.574.500.825.700/C565772|C10.597.350.090.500.530/C565772|C16.320.400.780.875/C565772 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 SCA11|SCA 11 Spinocerebellar Ataxia 11 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia 12 MESH:C565790 OMIM:604326 MESH:D020754 C10.228.140.252.190.530/C565790|C10.228.140.252.700.700/C565790|C10.228.854.787.875/C565790|C10.574.500.825.700/C565790|C10.597.350.090.500.530/C565790|C16.320.400.780.875/C565790 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 SCA12|SCA12 Spinocerebellar Ataxia 12 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 13 MESH:C537195 OMIM:605259 MESH:D020754 C10.228.140.252.190.530/C537195|C10.228.140.252.700.700/C537195|C10.228.854.787.875/C537195|C10.574.500.825.700/C537195|C10.597.350.090.500.530/C537195|C16.320.400.780.875/C537195 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 Autosomal dominant cerebellar ataxia with mental retardation|Cerebellar ataxia, autosomal dominant with mental retardation|SCA13|SCA13 Spinocerebellar ataxia 13 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 14 MESH:C537196 OMIM:605361 MESH:D020754 C10.228.140.252.190.530/C537196|C10.228.140.252.700.700/C537196|C10.228.854.787.875/C537196|C10.574.500.825.700/C537196|C10.597.350.090.500.530/C537196|C16.320.400.780.875/C537196 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 SCA14|SCA14 Spinocerebellar ataxia 14 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia 15 MESH:C564685 OMIM:606658 MESH:D020754 C10.228.140.252.190.530/C564685|C10.228.140.252.700.700/C564685|C10.228.854.787.875/C564685|C10.574.500.825.700/C564685|C10.597.350.090.500.530/C564685|C16.320.400.780.875/C564685 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 SCA15|SCA15 Spinocerebellar Ataxia 15|SCA16, FORMERLY|SPINOCEREBELLAR ATAXIA 16, FORMERLY Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia 17 MESH:C564616 OMIM:607136 MESH:D020754 C10.228.140.252.190.530/C564616|C10.228.140.252.700.700/C564616|C10.228.854.787.875/C564616|C10.574.500.825.700/C564616|C10.597.350.090.500.530/C564616|C16.320.400.780.875/C564616 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 CEREBELLOPARENCHYMAL DISORDER II|CPD2|HDL4|HDL4 Huntington Disease-Like 4|Huntington Disease-Like 4|OLIVOPONTOCEREBELLAR ATROPHY V|OPCA5|SCA17|SCA17 Spinocerebellar Ataxia 17 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 19 MESH:C537198 OMIM:607346 MESH:D013132 C10.228.140.252.700/C537198|C10.228.854.787/C537198|C10.574.500.825/C537198|C16.320.400.780/C537198 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 SCA19|SCA19 Spinocerebellar ataxia 19|SCA22|SPINOCEREBELLAR ATAXIA 22 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 20 MESH:C537199 OMIM:608687 MESH:D020754 C10.228.140.252.190.530/C537199|C10.228.140.252.700.700/C537199|C10.228.854.787.875/C537199|C10.574.500.825.700/C537199|C10.597.350.090.500.530/C537199|C16.320.400.780.875/C537199 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB|SCA20|SCA20 Spinocerebellar ataxia 20|Spinocerebellar ataxia type 20|Spinocerebellar Ataxia With Dysphonia|Spinocerebellar Ataxia With Spasmodic Cough Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 21 MESH:C537200 OMIM:607454 MESH:D013132 C10.228.140.252.700/C537200|C10.228.854.787/C537200|C10.574.500.825/C537200|C16.320.400.780/C537200 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 SCA21|SCA21 Spinocerebellar ataxia 21 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 22 MESH:C542540 MESH:D013132 C10.228.140.252.700/C542540|C10.228.854.787/C542540|C10.574.500.825/C542540|C16.320.400.780/C542540 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 23 MESH:C537201 OMIM:610245 MESH:D013132 C10.228.140.252.700/C537201|C10.228.854.787/C537201|C10.574.500.825/C537201|C16.320.400.780/C537201 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 SCA23|SCA23 Spinocerebellar ataxia 23 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 25 MESH:C537202 DO:DOID:0050974|OMIM:608703 MESH:D020754 C10.228.140.252.190.530/C537202|C10.228.140.252.700.700/C537202|C10.228.854.787.875/C537202|C10.574.500.825.700/C537202|C10.597.350.090.500.530/C537202|C16.320.400.780.875/C537202 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 SCA25|SCA25 Spinocerebellar ataxia 25|Spinocerebellar ataxia type 25 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 26 MESH:C537203 DO:DOID:0050975|OMIM:609306 MESH:D020754 C10.228.140.252.190.530/C537203|C10.228.140.252.700.700/C537203|C10.228.854.787.875/C537203|C10.574.500.825.700/C537203|C10.597.350.090.500.530/C537203|C16.320.400.780.875/C537203 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 SCA26|SCA26 Spinocerebellar ataxia 26|Spinocerebellar ataxia type 26 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 27 MESH:C537204 MESH:D013132 C10.228.140.252.700/C537204|C10.228.854.787/C537204|C10.574.500.825/C537204|C16.320.400.780/C537204 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 Cerebellar ataxia, autosomal dominant, FGF14-related|SCA27 Spinocerebellar ataxia 27 Genetic disease (inborn)|Nervous system disease SPINOCEREBELLAR ATAXIA 27A OMIM:193003 DO:DOID:0050976 MESH:C537856|MESH:D013132 C10.228.140.252.700/193003|C10.228.854.787/193003|C10.292.562.675.300/C537856/193003|C10.574.500.825/193003|C11.590.400.300/C537856/193003|C16.320.400.780/193003|C16.614.643/C537856/193003 C10.228.140.252.700|C10.228.854.787|C10.292.562.675.300/C537856|C10.574.500.825|C11.590.400.300/C537856|C16.320.400.780|C16.614.643/C537856 CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, FGF14-RELATED|NYS4, FORMERLY|NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT, FORMERLY|SCA27|SCA27A|SPINOCEREBELLAR ATAXIA 27|VESTIBULOCEREBELLAR DISORDER WITH PREDOMINANT OCULAR SIGNS Eye disease|Genetic disease (inborn)|Infant-newborn disease|Nervous system disease Spinocerebellar ataxia 28 MESH:C537205 OMIM:610246 MESH:D020754 C10.228.140.252.190.530/C537205|C10.228.140.252.700.700/C537205|C10.228.854.787.875/C537205|C10.574.500.825.700/C537205|C10.597.350.090.500.530/C537205|C16.320.400.780.875/C537205 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 SCA28|SCA28 Spinocerebellar ataxia 28 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia 29 MESH:C537206 OMIM:117360 MESH:D013132 C10.228.140.252.700/C537206|C10.228.854.787/C537206|C10.574.500.825/C537206|C16.320.400.780/C537206 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 ACV|Aplasia of cerebellar vermis|Cerebellar ataxia, congenital, nonprogressive, autosomal dominant|CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT|Cerebellar ataxia, early-onset, nonprogressive|Cerebellar vermis aplasia|CNPCA|SCA29|SCA29 Spinocerebellar Ataxia 29 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 30 MESH:C575214 OMIM:613371 MESH:D020754 C10.228.140.252.190.530/C575214|C10.228.140.252.700.700/C575214|C10.228.854.787.875/C575214|C10.574.500.825.700/C575214|C10.597.350.090.500.530/C575214|C16.320.400.780.875/C575214 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 SCA30|SCA30 Spinocerebellar ataxia 30 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia 31 MESH:C566146 OMIM:117210 MESH:D020754 C10.228.140.252.190.530/C566146|C10.228.140.252.700.700/C566146|C10.228.854.787.875/C566146|C10.574.500.825.700/C566146|C10.597.350.090.500.530/C566146|C16.320.400.780.875/C566146 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 SCA31|SCA31 Spinocerebellar Ataxia 31|Spinocerebellar Ataxia, 16q22-Linked Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia 8 MESH:C537307 OMIM:608768 MESH:D013132 C10.228.140.252.700/C537307|C10.228.854.787/C537307|C10.574.500.825/C537307|C16.320.400.780/C537307 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 SCA8|SCA8 Spinocerebellar ataxia 8 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia And Plaque-Like Deposits MESH:C566671 MESH:D020754 C10.228.140.252.190.530/C566671|C10.228.140.252.700.700/C566671|C10.228.854.787.875/C566671|C10.574.500.825.700/C566671|C10.597.350.090.500.530/C566671|C16.320.400.780.875/C566671 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia, autosomal recessive 1 MESH:C537308 OMIM:606002 MESH:D020754 C10.228.140.252.190.530/C537308|C10.228.140.252.700.700/C537308|C10.228.854.787.875/C537308|C10.574.500.825.700/C537308|C10.597.350.090.500.530/C537308|C16.320.400.780.875/C537308 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 AOA2|Ataxia-ocular apraxia 2|Ataxia-oculomotor apraxia 2|Ataxia with Oculomotor Apraxia|SCAN2|SCAR1|SCAR1, FORMERLY|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, FORMERLY|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2|Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1|Spinocerebellar Ataxia with Axonal Neuropathy Type 2 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia, Autosomal Recessive 2 MESH:C565865 OMIM:213200 MESH:D013132 C10.228.140.252.700/C565865|C10.228.854.787/C565865|C10.574.500.825/C565865|C16.320.400.780/C565865 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital|Cerebellar Hypoplasia, Nonprogressive Norman Type|Cerebelloparenchymal Disorder III|CPD3|CPD III|SCAR2|Spinocerebellar Ataxia Autosomal Recessive 2 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia, autosomal recessive 3 MESH:C537309 DO:DOID:0111612|OMIM:271250 MESH:D013132 C10.228.140.252.700/C537309|C10.228.854.787/C537309|C10.574.500.825/C537309|C16.320.400.780/C537309 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 SCABD|SCAR3|Spinocerebellar ataxia with blindness and deafness Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia, autosomal recessive 4 MESH:C537310 DO:DOID:0111611|OMIM:607317 MESH:D013132 C10.228.140.252.700/C537310|C10.228.854.787/C537310|C10.574.500.825/C537310|C16.320.400.780/C537310 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 SCA24, FORMERLY|SCAR4|SCASI|SPINOCEREBELLAR ATAXIA 24, FORMERLY|Spinocerebellar ataxia with saccadic intrusions Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia, autosomal recessive 5 MESH:C537311 MESH:D013132 C10.228.140.252.700/C537311|C10.228.854.787/C537311|C10.574.500.825/C537311|C16.320.400.780/C537311 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 Cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia, autosomal recessive 6 MESH:C537312 DO:DOID:0111617|OMIM:608029 MESH:D013132 C10.228.140.252.700/C537312|C10.228.854.787/C537312|C10.574.500.825/C537312|C16.320.400.780/C537312 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 Cerebellar ataxia, infantile nonprogressive, autosomal recessive|Norwegian infantile onset ataxia|SCAR6 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia, Autosomal Recessive 7 MESH:C563753 OMIM:609270 MESH:D020754 C10.228.140.252.190.530/C563753|C10.228.140.252.700.700/C563753|C10.228.854.787.875/C563753|C10.574.500.825.700/C563753|C10.597.350.090.500.530/C563753|C16.320.400.780.875/C563753 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 SCAR7|SCAR7 Spinocerebellar Ataxia Autosomal Recessive 7|Spinocerebellar Ataxia Autosomal Recessive 7 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia, Autosomal Recessive 8 MESH:C565188 DO:DOID:0111618|OMIM:610743 MESH:D020754 C10.228.140.252.190.530/C565188|C10.228.140.252.700.700/C565188|C10.228.854.787.875/C565188|C10.574.500.825.700/C565188|C10.597.350.090.500.530/C565188|C16.320.400.780.875/C565188 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 ARCA1|ARCA1 Autosomal Recessive Cerebellar Ataxia 1|Ataxia, Recessive, of Beauce|Cerebellar Ataxia, Autosomal Recessive, Type 1|SCAR8|SCAR8 Spinocerebellar Ataxia, Autosomal Recessive 8 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia, Autosomal Recessive 9 MESH:C567436 MESH:D020754 C10.228.140.252.190.530/C567436|C10.228.140.252.700.700/C567436|C10.228.854.787.875/C567436|C10.574.500.825.700/C567436|C10.597.350.090.500.530/C567436|C16.320.400.780.875/C567436 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 Cerebellar Ataxia, Autosomal Recessive, Type 2 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy MESH:C537313 OMIM:607250 MESH:D013132 C10.228.140.252.700/C537313|C10.228.854.787/C537313|C10.574.500.825/C537313|C16.320.400.780/C537313 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 SCAN1|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxias MESH:D020754 DO:DOID:0050957|DO:DOID:1441|OMIM:164400|OMIM:164500|OMIM:183086|OMIM:183090|OMIM:600223|OMIM:600224|OMIM:612876|OMIM:613728|OMIM:613908|OMIM:613909|OMIM:614153|OMIM:614229|OMIM:614322|OMIM:614831|OMIM:615386|OMIM:615705|OMIM:615768|OMIM:615957|OMIM:616053|OMIM:616127|OMIM:616204|OMIM:616354|OMIM:616410|OMIM:616719|OMIM:616795|OMIM:616948|OMIM:616949|OMIM:617018|OMIM:617133 A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43) MESH:D002524|MESH:D013132 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875 C10.228.140.252.190|C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C10.597.350.090.500|C16.320.400.780 ADCA, TYPE II|ALS13, INCLUDED|Ataxia 1, Spinocerebellar|Ataxia 2, Spinocerebellar|Ataxia 4, Spinocerebellar|Ataxia 5, Spinocerebellar|Ataxia 6, Spinocerebellar|Ataxia 7, Spinocerebellar|Ataxia, Dominantly-Inherited Spinocerebellar|Ataxias, Dominantly-Inherited Spinocerebellar|Ataxia, Spinocerebellar|Ataxias, Spinocerebellar|Atrophies, Spinocerebellar|Atrophy 2, Olivopontocerebellar|Atrophy 2s, Olivopontocerebellar|Atrophy 2, Spinocerebellar|Atrophy 2s, Spinocerebellar|Atrophy III, Olivopontocerebellar|Atrophy II, Olivopontocerebellar|Atrophy IIs, Spinocerebellar|Atrophy I, Olivopontocerebellar|Atrophy I, Spinocerebellar|Atrophy IV, Olivopontocerebellar|Atrophy IVs, Olivopontocerebellar|Atrophy, Spinocerebellar|Autosomal Dominant Cerebellar Ataxia, Type II|CALFAN|CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1|Cerebellar Degeneration with Slow Eye Movements|Cerebelloparenchymal Disorder I|Cerebelloparenchymal Disorder Is|CHOLESTASIS, LOW GGT, ACUTE LIVER FAILURE, AND NEURODEGENERATION SYNDROME|CPD1|Dominantly-Inherited Spinocerebellar Ataxia|Dominantly Inherited Spinocerebellar Ataxias|Dominantly-Inherited Spinocerebellar Ataxias|Menzel Type OPCA|Olivopontocerebellar Atrophy 2|Olivopontocerebellar Atrophy 2s|Olivopontocerebellar Atrophy, Holguin Type|Olivopontocerebellar Atrophy I|Olivopontocerebellar Atrophy II|Olivopontocerebellar Atrophy III|Olivopontocerebellar Atrophy IIIs|Olivopontocerebellar Atrophy IIs|Olivopontocerebellar Atrophy Is|Olivopontocerebellar Atrophy IV|Olivopontocerebellar Atrophy IVs|OPCA1|OPCA2|OPCA3|OPCA4|OPCA I|OPCA III|OPCA IV|OPCA, Menzel Type|OPCA, Schut-Haymaker Type|OPCA with Macular Degeneration and External Ophthalmoplegia|OPCA with Retinal Degeneration|SALIH ATAXIA|SCA1|SCA1s|SCA2|SCA32|SCA35|SCA36|SCA38|SCA4|SCA40|SCA41|SCA42|SCA43|SCA5|SCA6|SCA7|SCA9|SCAR10|SCAR11|SCAR12|SCAR13|SCAR14|SCAR15|SCAR16|SCAR17|SCAR18|SCAR20|SCAR21|SCAR22|SCAR23|SCAR24|Schut Haymaker Type OPCA|Schut-Haymaker Type OPCA|SPARCA1|Spinocerebellar Ataxia|Spinocerebellar Ataxia 1|Spinocerebellar Ataxia-1|Spinocerebellar Ataxia 1s|Spinocerebellar Ataxia 2|Spinocerebellar Ataxia-2|Spinocerebellar Ataxia 2s|SPINOCEREBELLAR ATAXIA 32|SPINOCEREBELLAR ATAXIA 35|SPINOCEREBELLAR ATAXIA 36|SPINOCEREBELLAR ATAXIA 38|Spinocerebellar Ataxia 4|Spinocerebellar Ataxia-4|SPINOCEREBELLAR ATAXIA 40|SPINOCEREBELLAR ATAXIA 41|SPINOCEREBELLAR ATAXIA 42|SPINOCEREBELLAR ATAXIA 43|Spinocerebellar Ataxia 4s|Spinocerebellar Ataxia 5|Spinocerebellar Ataxia-5|Spinocerebellar Ataxia 5s|Spinocerebellar Ataxia 6|Spinocerebellar Ataxia-6|Spinocerebellar Ataxia 6s|Spinocerebellar Ataxia 7|Spinocerebellar Ataxia-7|Spinocerebellar Ataxia 7s|SPINOCEREBELLAR ATAXIA 9|Spinocerebellar Ataxia, Autosomal Dominant, with Sensory Axonal Neuropathy|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, WITH HEPATOPATHY|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24|Spinocerebellar Ataxia, Cuban Type|Spinocerebellar Ataxia, Dominantly-Inherited|Spinocerebellar Ataxias, Dominantly Inherited|Spinocerebellar Ataxias, Dominantly-Inherited|Spinocerebellar Ataxia Type 1|Spinocerebellar Ataxia Type 2|Spinocerebellar Ataxia Type 4|Spinocerebellar Ataxia Type 5|Spinocerebellar Ataxia Type 6|Spinocerebellar Ataxia Type 7|SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY|Spinocerebellar Ataxia with Slow Eye Movements|Spinocerebellar Atrophies|Spinocerebellar Atrophy|Spinocerebellar Atrophy 2|Spinocerebellar Atrophy 2s|Spinocerebellar Atrophy I|Spinocerebellar Atrophy II|Spinocerebellar Atrophy IIs|Spinocerebellar Atrophy Is|Spinocerebellar Degeneration with Slow Eye Movements|SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS;SDSEM AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13, INCLUDED|Swami Syndrome, Wadia|Syndrome, Wadia Swami|Syndrome, Wadia-Swami|Type 1 Spinocerebellar Ataxia|Type 2 Spinocerebellar Ataxia|Type 4 Spinocerebellar Ataxia|Type 5 Spinocerebellar Ataxia|Type 6 Spinocerebellar Ataxia|Type 7 Spinocerebellar Ataxia|Wadia Swami Syndrome|Wadia-Swami Syndrome Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia with Dysmorphism MESH:C564802 MESH:D019066|MESH:D020754 C10.228.140.252.190.530/C564802|C10.228.140.252.700.700/C564802|C10.228.854.787.875/C564802|C10.574.500.825.700/C564802|C10.597.350.090.500.530/C564802|C16.320.400.780.875/C564802|C23.550.291.812/C564802 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875|C23.550.291.812 Genetic disease (inborn)|Nervous system disease|Pathology (process) Spinocerebellar Ataxia with Epilepsy MESH:C564395 MESH:D004827|MESH:D020754|MESH:D028361 C10.228.140.252.190.530/C564395|C10.228.140.252.700.700/C564395|C10.228.140.490/C564395|C10.228.854.787.875/C564395|C10.574.500.825.700/C564395|C10.597.350.090.500.530/C564395|C16.320.400.780.875/C564395|C18.452.660/C564395 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.140.490|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.400.780.875|C18.452.660 Myoclonic Epilepsy Myopathy Sensory Ataxia Genetic disease (inborn)|Metabolic disease|Nervous system disease Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy MESH:C566669 MESH:D009127|MESH:D010523|MESH:D020754 C05.651.504/C566669|C10.228.140.252.190.530/C566669|C10.228.140.252.700.700/C566669|C10.228.854.787.875/C566669|C10.574.500.825.700/C566669|C10.597.350.090.500.530/C566669|C10.597.613.550.500/C566669|C10.668.829/C566669|C16.320.400.780.875/C566669|C23.888.592.608.550.500/C566669 C05.651.504|C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C10.597.613.550.500|C10.668.829|C16.320.400.780.875|C23.888.592.608.550.500 Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Spinocerebellar Ataxia, X-Linked 1 MESH:C563134 OMIM:302500 MESH:D009849|MESH:D020754|MESH:D040181 C10.177.575.550.375/C563134|C10.228.140.079.612.600/C563134|C10.228.140.252.190.530/C563134|C10.228.140.252.700.650/C563134|C10.228.140.252.700.700/C563134|C10.228.662.550.600/C563134|C10.228.854.787.750/C563134|C10.228.854.787.875/C563134|C10.574.500.825.650/C563134|C10.574.500.825.700/C563134|C10.597.350.090.500.530/C563134|C16.320.322/C563134|C16.320.400.780.750/C563134|C16.320.400.780.875/C563134 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.190.530|C10.228.140.252.700.650|C10.228.140.252.700.700|C10.228.662.550.600|C10.228.854.787.750|C10.228.854.787.875|C10.574.500.825.650|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.322|C16.320.400.780.750|C16.320.400.780.875 Olivopontocerebellar Atrophy, X-Linked|OPCAX|OPCA, X-Linked|SCAX1 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia, X-linked, 2 MESH:C537314 OMIM:302600 MESH:D013132 C10.228.140.252.700/C537314|C10.228.854.787/C537314|C10.574.500.825/C537314|C16.320.400.780/C537314 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 Cerebellar ataxia with extrapyramidal involvement, early-onset|SCAX2|Spinocerebellar Ataxia, X-Linked 2 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia, X-linked, 3 MESH:C537315 DO:DOID:0111831|OMIM:301790 MESH:D017827|MESH:D040181 C10.228.140.252.190.530.530/C537315|C10.228.140.252.700.700.500/C537315|C10.228.854.787.875.500/C537315|C10.574.500.825.700.500/C537315|C10.597.350.090.500.530.530/C537315|C16.320.322/C537315|C16.320.400.780.875.500/C537315 C10.228.140.252.190.530.530|C10.228.140.252.700.700.500|C10.228.854.787.875.500|C10.574.500.825.700.500|C10.597.350.090.500.530.530|C16.320.322|C16.320.400.780.875.500 Ataxia-deafness syndrome X-linked|Ataxia-deafness syndrome, X-linked|SCAX3|Schmidley syndrome|Spinocerebellar Ataxia, X-Linked 3 Genetic disease (inborn)|Nervous system disease Spinocerebellar ataxia, X-linked, 4 MESH:C537316 DO:DOID:0111832|OMIM:301840 MESH:D013132 C10.228.140.252.700/C537316|C10.228.854.787/C537316|C10.574.500.825/C537316|C16.320.400.780/C537316 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 Ataxia-dementia syndrome, X-linked|SCAX4|Spinocerebellar Ataxia, X-Linked 4 Genetic disease (inborn)|Nervous system disease Spinocerebellar Ataxia, X-Linked 5 MESH:C567478 DO:DOID:0111833|OMIM:300703 MESH:D020754|MESH:D040181 C10.228.140.252.190.530/C567478|C10.228.140.252.700.700/C567478|C10.228.854.787.875/C567478|C10.574.500.825.700/C567478|C10.597.350.090.500.530/C567478|C16.320.322/C567478|C16.320.400.780.875/C567478 C10.228.140.252.190.530|C10.228.140.252.700.700|C10.228.854.787.875|C10.574.500.825.700|C10.597.350.090.500.530|C16.320.322|C16.320.400.780.875 Scax5 Genetic disease (inborn)|Nervous system disease Spinocerebellar Atrophy With Pupillary Paralysis MESH:C566668 MESH:D009849 C10.177.575.550.375/C566668|C10.228.140.079.612.600/C566668|C10.228.140.252.700.650/C566668|C10.228.662.550.600/C566668|C10.228.854.787.750/C566668|C10.574.500.825.650/C566668|C16.320.400.780.750/C566668 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 Genetic disease (inborn)|Nervous system disease Spinocerebellar Degenerations MESH:D013132 DO:DOID:9277|OMIM:248800 A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. MESH:D002526|MESH:D013118|MESH:D020271 C10.228.140.252.700|C10.228.854.787|C10.574.500.825|C16.320.400.780 C10.228.140.252|C10.228.854|C10.574.500|C16.320.400 Ataxia, Hereditary|Ataxias, Hereditary|Cerebellar Ataxia, Early Onset|Cerebellar Ataxia, Late Onset|Cerebellar Ataxia, Marie|Cerebellar Ataxia, Marie's|Cerebellar Degeneration, Primary|Cerebellar Degenerations, Primary|Corticostriatal Spinal Degeneration|Corticostriatal-Spinal Degeneration|Corticostriatal-Spinal Degenerations|Degeneration, Corticostriatal-Spinal|Degeneration, Familial Spinocerebellar|Degeneration, Hereditary Spinocerebellar|Degeneration, Inherited Spinocerebellar|Degeneration, Primary Cerebellar|Degenerations, Corticostriatal-Spinal|Degenerations, Familial Spinocerebellar|Degenerations, Hereditary Spinocerebellar|Degenerations, Inherited Spinocerebellar|Degeneration, Spinocerebellar|Degeneration, Spino Cerebellar|Degeneration, Spino-Cerebellar|Degenerations, Primary Cerebellar|Degenerations, Spinocerebellar|Degenerations, Spino Cerebellar|Early Onset Cerebellar Ataxia|Familial Spinocerebellar Degeneration|Familial Spinocerebellar Degenerations|Garland Moorhouse Syndrome|Garland-Moorhouse Syndrome|Hereditary Ataxia|Hereditary Ataxias|Hereditary Oligophrenic Cerebello Lental Degeneration|Hereditary Oligophrenic Cerebello-Lental Degeneration|Hereditary Spinocerebellar Degeneration|Hereditary Spinocerebellar Degenerations|Hypogonadism, Marinesco-Sjogren Syndrome-Hypergonadotrophic|Inherited Spinocerebellar Degeneration|Inherited Spinocerebellar Degenerations|Late Onset Cerebellar Ataxia|Marie Cerebellar Ataxia|Marie's Cerebellar Ataxia|Marinesco Garland Syndrome|Marinesco-Garland Syndrome|Marinesco Sjogren Garland Syndrome|Marinesco-Sjogren-Garland Syndrome|Marinesco Sjogren Syndrome|Marinesco-Sjogren Syndrome|Marinesco Sjögren Syndrome|Marinesco-Sjögren Syndrome|Marinesco Sjogren Syndrome Hypergonadotrophic Hypogonadism|Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism|Marinesco Sjogren Syndrome Myopathy|Marinesco-Sjogren Syndrome-Myopathy|MSS|Primary Cerebellar Degeneration|Primary Cerebellar Degenerations|Spinocerebellar Degeneration|Spino Cerebellar Degeneration|Spino-Cerebellar Degeneration|Spinocerebellar Degeneration, Familial|Spinocerebellar Degeneration, Hereditary|Spinocerebellar Degeneration, Inherited|Spino Cerebellar Degenerations|Spino-Cerebellar Degenerations|Spinocerebellar Degenerations, Familial|Spinocerebellar Degenerations, Hereditary|Spinocerebellar Degenerations, Inherited|Spinocerebellar Disease|Spinocerebellar Diseases|Syndrome, Garland-Moorhouse|Syndrome-Hypergonadotrophic Hypogonadism, Marinesco-Sjogren|Syndrome, Marinesco-Garland|Syndrome, Marinesco-Sjogren|Syndrome, Marinesco-Sjögren|Syndrome, Marinesco-Sjogren-Garland|Syndrome-Myopathy, Marinesco-Sjogren Genetic disease (inborn)|Nervous system disease Spirochaetales Infections MESH:D013145 Infections with bacteria of the order SPIROCHAETALES. MESH:D016905 C01.150.252.400.794 C01.150.252.400 Infection, Spirochaetales|Infection, Spirochete|Infections, Spirochaetales|Infections, Spirochete|Spirochaetales Infection|Spirochete Infection|Spirochete Infections Bacterial infection or mycosis Spirurida Infections MESH:D017205 Infections with nematodes of the order SPIRURIDA. MESH:D017190 C01.610.335.508.700.750 C01.610.335.508.700 Habronemiases|Habronemiasis|Infection, Spirurida|Infections, Spirurida|Spirurida Infection Parasitic disease Splenic Diseases MESH:D013158 DO:DOID:2529 Diseases involving the SPLEEN. MESH:D008206 C15.604.744 C15.604 Disease, Splenic|Diseases, Splenic|Splenic Disease Lymphatic disease Splenic Hypoplasia MESH:C563028 MESH:D000081207 C16.320.798/C563028|C20.673.795/C563028 C16.320.798|C20.673.795 Asplenia, Familial|Hyposplenia, Isolated Congenital Genetic disease (inborn)|Immune system disease Splenic Infarction MESH:D013159 DO:DOID:2533 Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed) MESH:D007238|MESH:D013158|MESH:D014652 C14.907.795|C15.604.744.617|C23.550.513.355.937|C23.550.717.489.937 C14.907|C15.604.744|C23.550.513.355|C23.550.717.489 Infarction, Splenic|Infarctions, Splenic|Infarct of the Spleen|Infarct, Splenic|Infarcts, Splenic|Splenic Infarct|Splenic Infarctions|Splenic Infarcts Cardiovascular disease|Lymphatic disease|Pathology (process) Splenic Neoplasms MESH:D013160 DO:DOID:672 Tumors or cancer of the SPLEEN. MESH:D009371|MESH:D013158 C04.588.842|C15.604.744.680 C04.588|C15.604.744 Cancer of Spleen|Cancer of the Spleen|Cancer, Spleen|Cancer, Splenic|Cancers, Spleen|Cancers, Splenic|Neoplasm, Spleen|Neoplasm, Splenic|Neoplasms, Spleen|Neoplasms, Splenic|Spleen Cancer|Spleen Cancers|Spleen Neoplasm|Spleen Neoplasms|Splenic Cancer|Splenic Cancers|Splenic Neoplasm Cancer|Lymphatic disease Splenic Rupture MESH:D013161 Rupture of the SPLEEN due to trauma or disease. MESH:D000007|MESH:D012421|MESH:D013158 C15.604.744.742|C26.017.680|C26.761.555 C15.604.744|C26.017|C26.761 Rupture, Splenic|Ruptures, Splenic|Splenic Ruptures Lymphatic disease|Wounds and injuries Splenogonadal fusion limb defects micrognatia MESH:C537318 MESH:D017880|MESH:D019465 C05.660.207/C537318|C05.660.585/C537318|C16.131.621.207/C537318|C16.131.621.585/C537318 C05.660.207|C05.660.585|C16.131.621.207|C16.131.621.585 Splenogonadal fusion limb defects syndrome|Splenogonadal Fusion Limb Defect Syndrome|Splenogonadal Fusion with Limb Defects and Micrognathia Congenital abnormality|Musculoskeletal disease Splenomegaly MESH:D013163 Enlargement of the spleen. MESH:D006984 C23.300.775.750 C23.300.775 Enlarged Spleen|Spleen, Enlarged Pathology (anatomical condition) Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T-Helper Cells MESH:C566666 MESH:D006971|MESH:D013163 C15.604.744.293/C566666|C23.300.775.750/C566666 C15.604.744.293|C23.300.775.750 Lymphatic disease|Pathology (anatomical condition) Splenoportal Vascular Anomalies MESH:C562761 MESH:D054079 C14.240.850/C562761|C16.131.240.850/C562761 C14.240.850|C16.131.240.850 Cardiovascular disease|Congenital abnormality Splenosis MESH:D017890 The spontaneous transplantation of splenic tissue to unusual sites after open splenic trauma, e.g., after automobile accidents, gunshot or stab wounds. The splenic pulp implants appear as red-blue nodules on the peritoneum, omentum, and mesentery, morphologically similar to multifocal pelvic endometriosis. (Segen, Dictionary of Modern Medicine, 1992) MESH:D013161 C15.604.744.742.500|C26.017.680.500|C26.761.555.500 C15.604.744.742|C26.017.680|C26.761.555 Splenoses Lymphatic disease|Wounds and injuries SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY OMIM:616890 MESH:D017689|MESH:D017880 C05.660.585.600/616890|C05.660.585/616890|C16.131.621.585.600/616890|C16.131.621.585/616890 C05.660.585|C05.660.585.600|C16.131.621.585|C16.131.621.585.600 SFMMP Congenital abnormality|Musculoskeletal disease Split-Hand And Split-Foot With Hypodontia MESH:C566665 MESH:D000848|MESH:D017880 C05.660.585/C566665|C07.650.800.100/C566665|C07.793.700.100/C566665|C16.131.621.585/C566665|C16.131.850.800.100/C566665 C05.660.585|C07.650.800.100|C07.793.700.100|C16.131.621.585|C16.131.850.800.100 Congenital abnormality|Mouth disease|Musculoskeletal disease Split hand foot deformity MESH:C535777 MESH:D017880 C05.660.585/C535777|C16.131.621.585/C535777 C05.660.585|C16.131.621.585 Congenital abnormality|Musculoskeletal disease Split-Hand Foot Malformation 2 MESH:C564056 OMIM:313350 MESH:D017880|MESH:D040181 C05.660.585/C564056|C16.131.621.585/C564056|C16.320.322/C564056 C05.660.585|C16.131.621.585|C16.320.322 SHFD2|SHFM2|SHSF2|Split hand foot anomaly - X-linked|Split-Hand-Foot Deformity 2|SPLIT-HAND/FOOT DEFORMITY 2|Split-Hand-Foot Malformation 2|SPLIT-HAND/FOOT MALFORMATION 2|Split hand-foot malformation X-linked|Split-Hand-Split-Foot Anomaly, X-Linked|SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease SPLIT-HAND/FOOT MALFORMATION 3 OMIM:246560 DO:DOID:0090025 MESH:C535777 C05.660.585/C535777/246560|C16.131.621.585/C535777/246560 C05.660.585/C535777|C16.131.621.585/C535777 CHROMOSOME 10q24 DUPLICATION SYNDROME|LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA|SHFM3|SHSF3 Congenital abnormality|Musculoskeletal disease Split-Hand-Foot Malformation 4 MESH:C565344 OMIM:605289 MESH:D017880 C05.660.585/C565344|C16.131.621.585/C565344 C05.660.585|C16.131.621.585 SHFM4|SPLIT-HAND/FOOT MALFORMATION 4 Congenital abnormality|Musculoskeletal disease Split-Hand-Foot Malformation 5 MESH:C564674 OMIM:606708 MESH:D017880 C05.660.585/C564674|C16.131.621.585/C564674 C05.660.585|C16.131.621.585 SHFM5|SPLIT-HAND/FOOT MALFORMATION 5 Congenital abnormality|Musculoskeletal disease Split-Hand-Foot Malformation 6 MESH:C567616 OMIM:225300 MESH:D017880 C05.660.585/C567616|C16.131.621.585/C567616 C05.660.585|C16.131.621.585 Ectrodactyly, Autosomal Recessive|SHFM6|SPLIT-HAND/FOOT MALFORMATION 6 Congenital abnormality|Musculoskeletal disease Split-hand-foot malformation with long bone deficiency MESH:C536425 OMIM:119100 MESH:D017880 C05.660.585/C536425|C16.131.621.585/C536425 C05.660.585|C16.131.621.585 Aplasia of tibia with ectrodactyly|Cleft hand absent tibia|Cleft Hand And Absent Tibia|Ectrodactyly with aplasia of long bones|SHFLD|SHFLD1|SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY|Split-Hand-Foot Malformation With Long Bone Deficiency 1|SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1|Tibial aplasia with split-hand-split-foot deformity|TIBIAL APLASIA WITH SPLIT-HAND/SPLIT-FOOT DEFORMITY Congenital abnormality|Musculoskeletal disease Split-Hand-Foot Malformation With Long Bone Deficiency 2 MESH:C565199 OMIM:610685 MESH:D017880 C05.660.585/C565199|C16.131.621.585/C565199 C05.660.585|C16.131.621.585 SHFLD2|SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2 Congenital abnormality|Musculoskeletal disease Split-Hand-Foot Malformation With Long Bone Deficiency 3 MESH:C567245 OMIM:612576 MESH:D017880 C05.660.585/C567245|C16.131.621.585/C567245 C05.660.585|C16.131.621.585 CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME|SHFLD3|SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3 Congenital abnormality|Musculoskeletal disease Split-Hand-Foot Malformation With Sensorineural Hearing Loss MESH:C565647 OMIM:220600 MESH:D005532|MESH:D006228|MESH:D006319 C05.330.495/C565647|C05.390.408/C565647|C05.660.585.512.380/C565647|C05.660.585.988.425/C565647|C09.218.458.341.887/C565647|C10.597.751.418.341.887/C565647|C16.131.621.585.512.500/C565647|C16.131.621.585.988.500/C565647|C23.888.592.763.393.341.887/C565647 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.621.585.512.500|C16.131.621.585.988.500|C23.888.592.763.393.341.887 Deafness, Congenital, And Split Hands And Feet|DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET|SHFM1D|SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Split hand split foot nystagmus MESH:C537319 MESH:D005532|MESH:D006228|MESH:D009759 C05.330.495/C537319|C05.390.408/C537319|C05.660.585.512.380/C537319|C05.660.585.988.425/C537319|C10.292.562.675/C537319|C11.590.400/C537319|C16.131.621.585.512.500/C537319|C16.131.621.585.988.500/C537319 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C10.292.562.675|C11.590.400|C16.131.621.585.512.500|C16.131.621.585.988.500 Karsch-Neugebauer syndrome|Nystagmus-Split Hand Syndrome|Split hand nystagmus syndrome|Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects MESH:C566662 MESH:D000015|MESH:D014564|MESH:D016135|MESH:D017880 C05.660.585/C566662|C10.500.680.800/C566662|C12.050.351.875/C566662|C12.200.706/C566662|C12.800/C566662|C16.131.077/C566662|C16.131.621.585/C566662|C16.131.666.680.800/C566662|C16.131.939/C566662 C05.660.585|C10.500.680.800|C12.050.351.875|C12.200.706|C12.800|C16.131.077|C16.131.621.585|C16.131.666.680.800|C16.131.939 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Spondylarthritis MESH:D025241 Inflammation of the joints of the SPINE, the intervertebral articulations. MESH:D001168|MESH:D013166 C05.116.900.853.625|C05.550.114.865 C05.116.900.853|C05.550.114 Arthritis, Spinal|Spinal Arthritides|Spinal Arthritis|Spondylarthritides Musculoskeletal disease Spondylarthropathies MESH:D025242 DO:DOID:1123 Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others. MESH:D025241 C05.116.900.853.625.800|C05.550.114.865.800 C05.116.900.853.625|C05.550.114.865 Bechterew Syndrome|Marie Strumpell Spondylitis|Marie-Strumpell Spondylitis|Spondylarthropathy|Spondylitis, Marie-Strumpell|Spondyloarthropathies|Spondyloarthropathy|Syndrome, Bechterew Musculoskeletal disease Spondylitis MESH:D013166 Inflammation of the SPINE. This includes both arthritic and non-arthritic conditions. MESH:D001850|MESH:D013122 C01.160.762|C05.116.165.762|C05.116.900.853 C01.160|C05.116.165|C05.116.900 Spondylitides Musculoskeletal disease Spondylitis, Ankylosing MESH:D013167 DO:DOID:7147|OMIM:106300 A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions. MESH:D000089183 C05.116.900.853.625.800.744.500|C05.550.069.340.500|C05.550.114.865.800.744.500 C05.116.900.853.625.800.744|C05.550.069.340|C05.550.114.865.800.744 Ankylosing Spondylarthritides|Ankylosing Spondylarthritis|Ankylosing Spondylitis|ANKYLOSING SPONDYLITIS, SUSCEPTIBILITY TO|Ankylosing Spondyloarthritides|Ankylosing Spondyloarthritis|Bechterew Disease|Bechterew's Disease|Bechterews Disease|BECHTEREW SYNDROME|Marie Struempell Disease|Marie-Struempell Disease|MARIE-STRUMPELL SPONDYLITIS|Rheumatoid Spondylitis|SPDA1|Spondylarthritides, Ankylosing|Spondylarthritis Ankylopoietica|Spondylarthritis, Ankylosing|Spondylitis Ankylopoietica|Spondylitis, Rheumatoid|Spondyloarthritides, Ankylosing|Spondyloarthritis Ankylopoietica|Spondyloarthritis, Ankylosing|SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 Musculoskeletal disease SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2 OMIM:183840 DO:DOID:0080604 MESH:D013167 C05.116.900.853.625.800.744.500/183840|C05.550.069.340.500/183840|C05.550.114.865.800.744.500/183840 C05.116.900.853.625.800.744.500|C05.550.069.340.500|C05.550.114.865.800.744.500 SPDA2 Musculoskeletal disease SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 3 OMIM:613238 DO:DOID:0080605 MESH:D013167 C05.116.900.853.625.800.744.500/613238|C05.550.069.340.500/613238|C05.550.114.865.800.744.500/613238 C05.116.900.853.625.800.744.500|C05.550.069.340.500|C05.550.114.865.800.744.500 SPDA3 Musculoskeletal disease Spondylocamptodactyly MESH:C535779 MESH:D006228|MESH:D013122 C05.116.900/C535779|C05.390.408/C535779|C05.660.585.988.425/C535779|C16.131.621.585.988.500/C535779 C05.116.900|C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Camptodactyly with cervical platyspondyly|Spondylo camptodactyly syndrome Congenital abnormality|Musculoskeletal disease Spondylocarpotarsal synostosis MESH:C535780 OMIM:272460 MESH:D000015|MESH:D009140|MESH:D012600|MESH:D013580 C05.116.099.370.894/C535780|C05.116.900.800.875/C535780|C05.660.906/C535780|C05/C535780|C16.131.077/C535780|C16.131.621.906/C535780 C05|C05.116.099.370.894|C05.116.900.800.875|C05.660.906|C16.131.077|C16.131.621.906 Congenital Scoliosis with Unilateral Unsegmented Bar|Congenital Synspondylism|Scoliosis, congenital, with unilateral unsegmented bar|SCT|SCT Syndrome|Spondylocarpotarsal Syndrome|Spondylocarpotarsal synostosis syndrome|Synspondylism, congenital|Vertebral fusion with carpal coalition Congenital abnormality|Musculoskeletal disease Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like MESH:C567340 OMIM:612350 MESH:D004535|MESH:D010009 C05.116.099.708/C567340|C14.907.454.240/C567340|C15.378.463.515.240/C567340|C16.131.831.428/C567340|C16.320.728/C567340|C16.320.850.260/C567340|C17.300.200.310/C567340|C17.800.804.428/C567340|C17.800.827.260/C567340 C05.116.099.708|C14.907.454.240|C15.378.463.515.240|C16.131.831.428|C16.320.728|C16.320.850.260|C17.300.200.310|C17.800.804.428|C17.800.827.260 EDSSPD3|EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3|SCD-EDS|SCDEDS|SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE Blood disease|Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Spondylocostal Dysostosis 4, Autosomal Dominant MESH:C565149 MESH:D004413 C05.116.099.370/C565149 C05.116.099.370 Costovertebral Segmentation Anomalies|Spondylocostal Dysplasia, Dominant Form|Spondylothoracic Dysostosis, Autosomal Dominant Musculoskeletal disease SPONDYLOCOSTAL DYSOSTOSIS 5 OMIM:122600 DO:DOID:0112363 MESH:D004413 C05.116.099.370/122600 C05.116.099.370 COSTOVERTEBRAL SEGMENTATION ANOMALIES|SCDO5|SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES|SPONDYLOCOSTAL DYSPLASIA|SPONDYLOTHORACIC DYSOSTOSIS|TACS Musculoskeletal disease Spondylocostal dysostosis, autosomal recessive MESH:C535781 OMIM:277300|OMIM:608681|OMIM:609813|OMIM:613686|OMIM:616566 MESH:D004413 C05.116.099.370/C535781 C05.116.099.370 Autosomal recessive spondylocostal dysostosis|COSTOVERTEBRAL DYSPLASIA|JARCHO-LEVIN SYNDROME|SCDO1|SCDO2|SCDO3|SCDO4|SCDO6|SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE|Spondylocostal Dysostosis 2, Autosomal Recessive|Spondylocostal Dysostosis 3, Autosomal Recessive|SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE|SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE|SPONDYLOTHORACIC DYSOSTOSIS|SPONDYLOTHORACIC DYSPLASIA|VERTEBRAL ANOMALIES Musculoskeletal disease Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies MESH:C564799 MESH:D001006|MESH:D004413|MESH:D014564 C05.116.099.370/C564799|C06.198.050/C564799|C12.050.351.875/C564799|C12.200.706/C564799|C12.800/C564799|C16.131.314.094/C564799|C16.131.939/C564799 C05.116.099.370|C06.198.050|C12.050.351.875|C12.200.706|C12.800|C16.131.314.094|C16.131.939 Casamassima-Morton-Nance Syndrome Congenital abnormality|Digestive system disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Spondylodysplasia And Premature Pubarche MESH:C567552 MESH:D010009|MESH:D011629 C05.116.099.708/C567552|C16.320.728/C567552|C19.391.693/C567552 C05.116.099.708|C16.320.728|C19.391.693 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Spondyloenchondrodysplasia MESH:C535782 MESH:D001327|MESH:D010009 C05.116.099.708/C535782|C16.320.728/C535782|C20.111/C535782 C05.116.099.708|C16.320.728|C20.111 Spondyloenchondromatosis|Spondylometaphyseal dysplasia with enchondromatous changes Genetic disease (inborn)|Immune system disease|Musculoskeletal disease Spondyloepimetaphyseal Dysplasia, Aggrecan Type MESH:C567558 OMIM:612813 MESH:D001848|MESH:D019465 C05.116.099/C567558|C05.660.207/C567558|C16.131.621.207/C567558 C05.116.099|C05.660.207|C16.131.621.207 SEMDAG|SEMD, Aggrecan Type Congenital abnormality|Musculoskeletal disease Spondyloepimetaphyseal dysplasia, Genevieve type MESH:C535785 DO:DOID:0080576|OMIM:610442 MESH:D001259|MESH:D006628|MESH:D008607|MESH:D008831|MESH:D010009 C05.116.099.708/C535785|C05.660.207.620/C535785|C10.500.507.400.500/C535785|C10.597.350.090/C535785|C10.597.606.360/C535785|C16.131.621.207.620/C535785|C16.131.666.507.400.500/C535785|C16.320.728/C535785|C17.800.329.750/C535785|C23.888.592.350.090/C535785|C23.888.592.604.646/C535785|C23.888.971.468/C535785|F03.625.539/C535785 C05.116.099.708|C05.660.207.620|C10.500.507.400.500|C10.597.350.090|C10.597.606.360|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.728|C17.800.329.750|C23.888.592.350.090|C23.888.592.604.646|C23.888.971.468|F03.625.539 NANS DEFICIENCY|SEMDG|SEMD, Genevieve Type Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Spondyloepimetaphyseal Dysplasia, Irapa Type MESH:C562958 MESH:D010009 C05.116.099.708/C562958|C16.320.728/C562958 C05.116.099.708|C16.320.728 SEMDIT Genetic disease (inborn)|Musculoskeletal disease Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related MESH:C563869 OMIM:608728 MESH:D010009 C05.116.099.708/C563869|C16.320.728/C563869 C05.116.099.708|C16.320.728 SEMDBCD|SEMD, MATN3-RELATED|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED Genetic disease (inborn)|Musculoskeletal disease Spondyloepimetaphyseal Dysplasia, Missouri Type MESH:C566574 DO:DOID:0080030|OMIM:602111 MESH:D010009 C05.116.099.708/C566574|C16.320.728/C566574 C05.116.099.708|C16.320.728 MANDP1, INCLUDED|SEMDM|SEMD, Missouri Type|SEMD, MISSOURI TYPE METAPHYSEAL ANADYSPLASIA 1, INCLUDED Genetic disease (inborn)|Musculoskeletal disease Spondyloepimetaphyseal Dysplasia, Pakistani Type MESH:C567551 DO:DOID:0050812|OMIM:612847 MESH:D006130|MESH:D010009 C05.116.099.708/C567551|C16.320.728/C567551|C23.550.393/C567551 C05.116.099.708|C16.320.728|C23.550.393 BCYM4|BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES|SEMD, Pakistani Type|SPONDYLODYSPLASIA AND PREMATURE PUBARCHE|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Spondyloepimetaphyseal Dysplasia, Shohat Type MESH:C566523 MESH:D010009 C05.116.099.708/C566523|C16.320.728/C566523 C05.116.099.708|C16.320.728 SEMD, Shohat Type Genetic disease (inborn)|Musculoskeletal disease Spondyloepimetaphyseal dysplasia, sponastrime type MESH:C535786 MESH:D010009 C05.116.099.708/C535786|C16.320.728/C535786 C05.116.099.708|C16.320.728 Sponastrime dysplasia|Spondylar and nasal alterations with striated metaphyses Genetic disease (inborn)|Musculoskeletal disease Spondyloepimetaphyseal Dysplasia With Abnormal Dentition MESH:C566644 MESH:D010009|MESH:D014071 C05.116.099.708/C566644|C07.650.800/C566644|C07.793.700/C566644|C16.131.850.800/C566644|C16.320.728/C566644 C05.116.099.708|C07.650.800|C07.793.700|C16.131.850.800|C16.320.728 SEMDAD Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Spondyloepimetaphyseal dysplasia with hypotrichosis MESH:C535783 MESH:D007039|MESH:D010009 C05.116.099.708/C535783|C16.320.728/C535783|C17.800.329.937/C535783 C05.116.099.708|C16.320.728|C17.800.329.937 Whyte Petersen McAlister syndrome|Whyte syndrome Genetic disease (inborn)|Musculoskeletal disease|Skin disease Spondyloepimetaphyseal Dysplasia With Joint Laxity MESH:C562968 DO:DOID:0112197 MESH:D007593|MESH:D010009 C05.116.099.708/C562968|C05.550.521/C562968|C16.320.728/C562968 C05.116.099.708|C05.550.521|C16.320.728 SEMDJL Genetic disease (inborn)|Musculoskeletal disease SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES OMIM:271640 DO:DOID:0112198 MESH:C562968|MESH:D050723 C05.116.099.708/C562968/271640|C05.550.521/C562968/271640|C16.320.728/C562968/271640|C26.404/271640 C05.116.099.708/C562968|C05.550.521/C562968|C16.320.728/C562968|C26.404 SEMDJL|SEMDJL1 Genetic disease (inborn)|Musculoskeletal disease|Wounds and injuries Spondyloepimetaphyseal dysplasia with multiple dislocations MESH:C535784 MESH:D004204|MESH:D010009 C05.116.099.708/C535784|C05.550.518/C535784|C16.320.728/C535784|C26.289/C535784 C05.116.099.708|C05.550.518|C16.320.728|C26.289 Spondyloepimetaphyseal dysplasia with multiple dislocations, hall type|Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type Genetic disease (inborn)|Musculoskeletal disease|Wounds and injuries Spondyloepimetaphyseal Dysplasia, X-Linked MESH:C564714 DO:DOID:0112150|OMIM:300106 MESH:D010009|MESH:D040181 C05.116.099.708/C564714|C16.320.322/C564714|C16.320.728/C564714 C05.116.099.708|C16.320.322|C16.320.728 SEMDX|SEMD, X-Linked Genetic disease (inborn)|Musculoskeletal disease SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY OMIM:300232 MESH:C564714|MESH:D020279 C05.116.099.708/C564714/300232|C10.228.140.163.100.362/300232|C10.228.140.695.625/300232|C10.314.400/300232|C10.574.500.490/300232|C16.320.322/C564714/300232|C16.320.400.367/300232|C16.320.565.189.362/300232|C16.320.728/C564714/300232|C18.452.132.100.362/300232|C18.452.648.189.362/300232 C05.116.099.708/C564714|C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C16.320.322/C564714|C16.320.400.367|C16.320.565.189.362|C16.320.728/C564714|C18.452.132.100.362|C18.452.648.189.362 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA|LKMCD|SEMDHL|SEMD, X-LINKED, WITH MENTAL DETERIORATION|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech MESH:C567128 DO:DOID:0112287 MESH:D010009|MESH:D059327 C05.116.099.708/C567128|C05.660.585.262/C567128|C16.131.621.585.262/C567128|C16.320.728/C567128 C05.116.099.708|C05.660.585.262|C16.131.621.585.262|C16.320.728 Fantasy Island Syndrome|SED-BDS|Tattoo Dysplasia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Spondyloepiphyseal dysplasia, congenita MESH:C535788 DO:DOID:14789|OMIM:183900 MESH:D010009 C05.116.099.708/C535788|C16.320.728/C535788 C05.116.099.708|C16.320.728 SEDC|SED Congenita|Sed, Congenital Type|Spondyloepiphyseal Dysplasia Congenita|Spondyloepiphyseal dysplasia, congenital type Genetic disease (inborn)|Musculoskeletal disease Spondyloepiphyseal Dysplasia, Kimberley Type MESH:C564252 DO:DOID:0112282|OMIM:608361 MESH:D010009 C05.116.099.708/C564252|C16.320.728/C564252 C05.116.099.708|C16.320.728 SEDK Genetic disease (inborn)|Musculoskeletal disease SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE OMIM:184095 DO:DOID:0111553 MESH:D010009 C05.116.099.708/184095|C16.320.728/184095 C05.116.099.708|C16.320.728 PSEUDO-MORQUIO SYNDROME, TYPE 2|SED, MAROTEAUX TYPE Genetic disease (inborn)|Musculoskeletal disease Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness MESH:C566659 MESH:D006319|MESH:D009216|MESH:D010009 C05.116.099.708/C566659|C09.218.458.341.887/C566659|C10.597.751.418.341.887/C566659|C11.744.636/C566659|C16.320.728/C566659|C23.888.592.763.393.341.887/C566659 C05.116.099.708|C09.218.458.341.887|C10.597.751.418.341.887|C11.744.636|C16.320.728|C23.888.592.763.393.341.887 Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Spondyloepiphyseal dysplasia, Omani type MESH:C535789 MESH:D010009 C05.116.099.708/C535789|C16.320.728/C535789 C05.116.099.708|C16.320.728 Chondrodysplasia with Multiple Dislocations|CHST3-Related Skeletal Dysplasia|Humerospinal dysostosis|Humero-Spinal Dysostosis|Humero-spinal dysostosis with congenital heart disease|Kozlowski Celermajer Tink syndrome|Omani type of spondyloepiphyseal dysplasia|SED, Omani Type|SED with Luxations, CHST3 Type|Spondyloepiphyseal Dysplasia, CHST3-Related|Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations Genetic disease (inborn)|Musculoskeletal disease Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant MESH:C566658 MESH:D010009 C05.116.099.708/C566658|C16.320.728/C566658 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive MESH:C564797 MESH:D010009 C05.116.099.708/C564797|C16.320.728/C564797 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type MESH:C563772 MESH:D010009 C05.116.099.708/C563772|C16.320.728/C563772 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Spondyloepiphyseal dysplasia tarda, Toledo type MESH:C535787 MESH:D003318|MESH:D004392|MESH:D010009 C05.116.099.343/C535787|C05.116.099.708/C535787|C11.204.299/C535787|C16.320.240/C535787|C16.320.728/C535787|C19.297/C535787 C05.116.099.343|C05.116.099.708|C11.204.299|C16.320.240|C16.320.728|C19.297 Brachyolmia, Toledo type|Brachyolmia Type 1, Toledo Type|Paps-Chondroitin Sulfate Sulfotransferase Deficiency|SED, Chondroitin Sulfate Type|Spondyloepiphyseal dysplasia, chondroitin sulfate type|Toledo type brachyolmia Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies MESH:C564003 DO:DOID:0112289 MESH:D010009|MESH:D019066 C05.116.099.708/C564003|C16.320.728/C564003|C23.550.291.812/C564003 C05.116.099.708|C16.320.728|C23.550.291.812 Genetic disease (inborn)|Musculoskeletal disease|Pathology (process) Spondyloepiphyseal Dysplasia Tarda with Mental Retardation MESH:C564796 DO:DOID:0112292 MESH:D008607|MESH:D010009 C05.116.099.708/C564796|C10.597.606.360/C564796|C16.320.728/C564796|C23.888.592.604.646/C564796|F03.625.539/C564796 C05.116.099.708|C10.597.606.360|C16.320.728|C23.888.592.604.646|F03.625.539 Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Spondyloepiphyseal Dysplasia with Atlantoaxial Instability MESH:C563472 MESH:D007593|MESH:D010009 C05.116.099.708/C563472|C05.550.521/C563472|C16.320.728/C563472 C05.116.099.708|C05.550.521|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS OMIM:143095 DO:DOID:0050813 MESH:C535789 C05.116.099.708/C535789/143095|C16.320.728/C535789/143095 C05.116.099.708/C535789|C16.320.728/C535789 CDMD|CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS|HSD|HUMEROSPINAL DYSOSTOSIS|SEDCJD|SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE Genetic disease (inborn)|Musculoskeletal disease Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation MESH:C566515 MESH:D002386|MESH:D002972|MESH:D003398|MESH:D008607|MESH:D010009 C05.116.099.370.894.232/C566515|C05.116.099.708/C566515|C05.500.460.185/C566515|C05.660.207.240/C566515|C05.660.207.540.460.185/C566515|C05.660.906.364/C566515|C07.320.440.185/C566515|C07.465.525.185/C566515|C07.650.500.460.185/C566515|C07.650.525.185/C566515|C10.597.606.360/C566515|C11.510.245/C566515|C16.131.621.207.240/C566515|C16.131.621.207.540.460.185/C566515|C16.131.621.906.364/C566515|C16.131.850.500.460.185/C566515|C16.131.850.525.185/C566515|C16.320.728/C566515|C23.888.592.604.646/C566515|F03.625.539/C566515 C05.116.099.370.894.232|C05.116.099.708|C05.500.460.185|C05.660.207.240|C05.660.207.540.460.185|C05.660.906.364|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.597.606.360|C11.510.245|C16.131.621.207.240|C16.131.621.207.540.460.185|C16.131.621.906.364|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.728|C23.888.592.604.646|F03.625.539 Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy MESH:C566660 DO:DOID:0112286 MESH:D003317|MESH:D010009 C05.116.099.708/C566660|C11.204.236/C566660|C11.270.162/C566660|C16.320.290.162/C566660|C16.320.728/C566660 C05.116.099.708|C11.204.236|C11.270.162|C16.320.290.162|C16.320.728 Eye disease|Genetic disease (inborn)|Musculoskeletal disease Spondylohypoplasia, arthrogryposis and popliteal pterygium MESH:C535790 MESH:D000015|MESH:D001176 C05.550.150/C535790|C05.651.102/C535790|C05.660.077/C535790|C16.131.077/C535790|C16.131.621.077/C535790 C05.550.150|C05.651.102|C05.660.077|C16.131.077|C16.131.621.077 Congenital abnormality|Musculoskeletal disease Spondylolisthesis MESH:D013168 DO:DOID:6682 Forward displacement of a superior vertebral body over the vertebral body below. MESH:D013169 C05.116.900.938.500.500 C05.116.900.938.500 Olistheses|Olisthesis|Spondylistheses|Spondylisthesis|Spondylolistheses Musculoskeletal disease Spondylolysis MESH:D013169 DO:DOID:2300 Deficient development or degeneration of a portion of the VERTEBRA, usually in the pars interarticularis (the bone bridge between the superior and inferior facet joints of the LUMBAR VERTEBRAE) leading to SPONDYLOLISTHESIS. MESH:D055009 C05.116.900.938.500 C05.116.900.938 Spondylolyses Musculoskeletal disease Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness MESH:C566507 MESH:D002114|MESH:D010009|MESH:D034381 C05.116.099.708/C566507|C09.218.458.341/C566507|C10.597.751.418.341/C566507|C16.320.728/C566507|C18.452.174.130/C566507|C23.888.592.763.393.341/C566507 C05.116.099.708|C09.218.458.341|C10.597.751.418.341|C16.320.728|C18.452.174.130|C23.888.592.763.393.341 Ear-nose-throat disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Spondylo-Megaepiphyseal-Metaphyseal Dysplasia MESH:C567639 OMIM:613330 MESH:D010009 C05.116.099.708/C567639|C16.320.728/C567639 C05.116.099.708|C16.320.728 SMMD Genetic disease (inborn)|Musculoskeletal disease Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type MESH:C564794 DO:DOID:0112196|OMIM:271665 MESH:D004392|MESH:D010009 C05.116.099.343/C564794|C05.116.099.708/C564794|C16.320.240/C564794|C16.320.728/C564794|C19.297/C564794 C05.116.099.343|C05.116.099.708|C16.320.240|C16.320.728|C19.297 SMED, Short Limb-Abnormal Calcification Type|SMED, Short Limb-Hand Type|SMED-SL|SMED-SL/AC|SMED Type II|SMED, TYPE II|Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Spondylometaphyseal dysplasia, Algerian type MESH:C535794 DO:DOID:0112296 MESH:D010009 C05.116.099.708/C535794|C16.320.728/C535794 C05.116.099.708|C16.320.728 Spondylometaphyseal Dysplasia, Schmidt Type|Spondylometaphyseal Dysplasia With Severe Genu Valgum Genetic disease (inborn)|Musculoskeletal disease Spondylometaphyseal dysplasia, axial MESH:C535795 DO:DOID:0112299 MESH:D010009 C05.116.099.708/C535795|C16.320.728/C535795 C05.116.099.708|C16.320.728 Axial SMD|SMD, Axial Genetic disease (inborn)|Musculoskeletal disease Spondylometaphyseal dysplasia, 'corner fracture' type MESH:C535793 DO:DOID:0112297 MESH:D006130|MESH:D010009|MESH:D013978 C05.116.099.708/C535793|C16.320.728/C535793|C23.550.393/C535793|C26.404.875/C535793|C26.558.857/C535793 C05.116.099.708|C16.320.728|C23.550.393|C26.404.875|C26.558.857 Spondylometaphyseal Dysplasia, Corner Fracture Type|Spondylometaphyseal Dysplasia, Sutcliffe Type Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Wounds and injuries Spondylometaphyseal dysplasia, east-African type MESH:C535796 MESH:D010009 C05.116.099.708/C535796|C16.320.728/C535796 C05.116.099.708|C16.320.728 Spondylometaphyseal Dysplasia, East African Type Genetic disease (inborn)|Musculoskeletal disease Spondylometaphyseal dysplasia, Kozlowski type MESH:C535797 DO:DOID:0111554|OMIM:184252 MESH:D010009 C05.116.099.708/C535797|C16.320.728/C535797 C05.116.099.708|C16.320.728 SMDK|SMD, Kozlowski Type Genetic disease (inborn)|Musculoskeletal disease Spondylometaphyseal dysplasia, Sedaghatian type MESH:C535798 DO:DOID:0112298|OMIM:250220 MESH:D010009 C05.116.099.708/C535798|C16.320.728/C535798 C05.116.099.708|C16.320.728 Lethal Metaphyseal Dysplasia|Metaphyseal Chondrodysplasia, Congenital Lethal|Sedaghatian Chondrodysplasia|SMDS Genetic disease (inborn)|Musculoskeletal disease Spondylometaphyseal Dysplasia, Type A4 MESH:C563803 DO:DOID:0112301 MESH:D010009 C05.116.099.708/C563803|C16.320.728/C563803 C05.116.099.708|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism MESH:C535791 DO:DOID:0112305 MESH:D010009 C05.116.099.708/C535791|C16.320.728/C535791 C05.116.099.708|C16.320.728 SMD With Bowed Forearms And Facial Dysmorphism Genetic disease (inborn)|Musculoskeletal disease Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy MESH:C563825 DO:DOID:0112300|OMIM:608940 MESH:D010009|MESH:D012174 C05.116.099.708/C563825|C11.270.684/C563825|C11.768.585.658.500/C563825|C16.320.290.684/C563825|C16.320.728/C563825 C05.116.099.708|C11.270.684|C11.768.585.658.500|C16.320.290.684|C16.320.728 SMDCRD Eye disease|Genetic disease (inborn)|Musculoskeletal disease Spondylometaphyseal dysplasia with dentinogenesis imperfecta MESH:C535792 MESH:D003811|MESH:D010009 C05.116.099.708/C535792|C07.650.800.270/C535792|C07.793.700.270/C535792|C16.131.850.800.270/C535792|C16.320.728/C535792 C05.116.099.708|C07.650.800.270|C07.793.700.270|C16.131.850.800.270|C16.320.728 Odontochondrodysplasia Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Spondylometaphyseal Dysplasia, X-Linked MESH:C563124 MESH:D010009|MESH:D040181 C05.116.099.708/C563124|C16.320.322/C563124|C16.320.728/C563124 C05.116.099.708|C16.320.322|C16.320.728 Spondylometaphyseal Dysplasia, Richmond Type Genetic disease (inborn)|Musculoskeletal disease Spondyloocular Syndrome, Autosomal Recessive MESH:C565285 MESH:D002386|MESH:D010009|MESH:D012163|MESH:D015785|MESH:D019465 C05.116.099.708/C565285|C05.660.207/C565285|C11.270/C565285|C11.510.245/C565285|C11.768.648/C565285|C16.131.621.207/C565285|C16.320.290/C565285|C16.320.728/C565285 C05.116.099.708|C05.660.207|C11.270|C11.510.245|C11.768.648|C16.131.621.207|C16.320.290|C16.320.728 Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease SPONDYLOPERIPHERAL DYSPLASIA OMIM:271700 DO:DOID:0112195 MESH:D010009 C05.116.099.708/271700|C16.320.728/271700 C05.116.099.708|C16.320.728 SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA Genetic disease (inborn)|Musculoskeletal disease Spondyloperipheral dysplasia short ulna MESH:C535799 MESH:D010009 C05.116.099.708/C535799|C16.320.728/C535799 C05.116.099.708|C16.320.728 Familial spondyloepiphyseal dysplasia|Spondyloperipheral dysplasia|Spondyloperipheral Dysplasia With Short Ulna Genetic disease (inborn)|Musculoskeletal disease Spondylosis MESH:D055009 DO:DOID:2247 A degenerative spinal disease that can involve any part of the VERTEBRA, the INTERVERTEBRAL DISK, and the surrounding soft tissue. MESH:D013122 C05.116.900.938 C05.116.900 Cervical Spondylosis|Lumbarsacral Spondylosis|Spondylosis, Cervical|Spondylosis Deformans|Spondylosis, Lumbarsacral|Spondylosis, Thoracic|Thoracic Spondylosis Musculoskeletal disease Spondylospinal Thoracic Dysostosis MESH:C566622 MESH:D003286|MESH:D004413|MESH:D010009 C05.116.099.370/C566622|C05.116.099.708/C566622|C05.550.323/C566622|C05.651.197/C566622|C16.320.728/C566622 C05.116.099.370|C05.116.099.708|C05.550.323|C05.651.197|C16.320.728 Genetic disease (inborn)|Musculoskeletal disease Spongiform Encephalopathy with Neuropsychiatric Features MESH:C564678 OMIM:606688 MESH:D001523|MESH:D017096|MESH:D020271 C01.207.800/C564678|C10.228.228.800/C564678|C10.574.500/C564678|C10.574.843/C564678|C16.320.400/C564678|F03/C564678 C01.207.800|C10.228.228.800|C10.574.500|C10.574.843|C16.320.400|F03 Genetic disease (inborn)|Mental disorder|Nervous system disease Spontaneous Perforation MESH:D000072663 A pathological hole in an organ, blood vessel or other soft part of the body, occurring in the absence of external force. MESH:D020763 C23.300.940 C23.300 Perforation, Spontaneous|Perforations, Spontaneous|Spontaneous Perforations Pathology (anatomical condition) Sporotrichosis MESH:D013174 DO:DOID:14484 The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound with SPOROTHRIX. MESH:D003881 C01.150.703.302.675|C01.800.200.675|C17.800.838.208.675 C01.150.703.302|C01.800.200|C17.800.838.208 Infection, Sporothrix|Infection, Sporothrix brasiliensis|Infection, Sporothrix schenckii|Sporothrix brasiliensis Infection|Sporothrix brasiliensis Infections|Sporothrix Infection|Sporothrix Infections|Sporothrix schenckii Infection|Sporothrix schenckii Infections|Sporotrichoses Bacterial infection or mycosis|Skin disease Spotted Fever Group Rickettsiosis MESH:D000073605 DO:DOID:10921|DO:DOID:11103|DO:DOID:11104 A group of arthropod-borne diseases caused by spotted fever bio-group members of RICKETTSIA. They are characterized by fever, headache, and petechial (spotted) rash. MESH:D012282|MESH:D017282 C01.150.252.400.789.725.400|C01.920.930.887 C01.150.252.400.789.725|C01.920.930 African Tick Bite Fever|African Tick-Bite Fever|Far Eastern Spotted Fever|Fever, African Tick-Bite|Fever, Japanese Spotted|Fevers, Japanese Spotted|Fever, Spotted|Fevers, Spotted|Flinders Island Spotted Fever|Infection, Rickettsia aeschlimannii|Infection, Rickettsia africae|Infection, Rickettsia akari|Infection, Rickettsia australis|Infection, Rickettsia slovaca|Infections, Rickettsia aeschlimannii|Infections, Rickettsia africae|Infections, Rickettsia akari|Infections, Rickettsia australis|Infections, Rickettsia slovaca|Japanese Spotted Fever|Japanese Spotted Fevers|Lymphadenopathies, Tick-Borne|Lymphadenopathy, Tick-Borne|North Asian Tick Typhus|Queensland Tick Typhus|Rickettsia aeschlimannii Infection|Rickettsia aeschlimannii Infections|Rickettsia africae Infection|Rickettsia africae Infections|Rickettsia akari Infection|Rickettsia akari Infections|Rickettsia australis Infection|Rickettsia australis Infections|Rickettsialpox|Rickettsia slovaca Infection|Rickettsia slovaca Infections|Spotted Fever|Spotted Fever Group Rickettsioses|Spotted Fever, Japanese|Spotted Fevers|TIBOLA|Tick-Bite Fever, African|Tick-Borne Lymphadenopathies|Tick Borne Lymphadenopathy|Tick-Borne Lymphadenopathy|Tick Typhus, Queensland|Typhus, Queensland Tick Bacterial infection or mycosis Sprains and Strains MESH:D013180 A collective term for muscle and ligament injuries without dislocation or fracture. A sprain is a joint injury in which some of the fibers of a supporting ligament are ruptured but the continuity of the ligament remains intact. A strain is an overstretching or overexertion of some part of the musculature. MESH:D014947 C26.844 C26 Sprain|Sprains|Strain|Strains|Strains and Sprains Wounds and injuries Spranger Schinzel Myers syndrome MESH:C535801 MESH:D001176|MESH:D001848 C05.116.099/C535801|C05.550.150/C535801|C05.651.102/C535801|C05.660.077/C535801|C16.131.621.077/C535801 C05.116.099|C05.550.150|C05.651.102|C05.660.077|C16.131.621.077 Arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits|Cerebroarthrodigital syndrome Congenital abnormality|Musculoskeletal disease Sprengel deformity MESH:C535802 MESH:D000013 C16.131/C535802 C16.131 High scapula|Maladie de Sprengel familiale|Sprengel's shoulder Congenital abnormality Sprue, Tropical MESH:D013182 DO:DOID:10607 A chronic malabsorption syndrome, occurring mainly in residents of or visitors to the tropics or subtropics. The failed INTESTINAL ABSORPTION of nutrients from the SMALL INTESTINE results in MALNUTRITION and ANEMIA that is due to FOLIC ACID deficiency. MESH:D008286 C06.405.469.637.850|C18.452.603.850 C06.405.469.637|C18.452.603 Idiopathic Tropical Malabsorption Syndrome|Tropical Sprue Digestive system disease|Metabolic disease Squamous Cell Carcinoma of Head and Neck MESH:D000077195 DO:DOID:2876|DO:DOID:5515|DO:DOID:5520|OMIM:275355 The most common type of head and neck carcinoma that originates from cells on the surface of the NASAL CAVITY; MOUTH; PARANASAL SINUSES, SALIVARY GLANDS, and LARYNX. Mutations in TNFRSF10B, PTEN, and ING1 genes are associated with this cancer. MESH:D002294|MESH:D006258 C04.557.470.200.400.565|C04.588.443.177 C04.557.470.200.400|C04.588.443 Carcinoma, Squamous Cell of Head and Neck|Head and Neck Squamous Cell Carcinoma|Head And Neck Squamous Cell Carcinomas|HNSCC|Hypopharyngeal Squamous Cell Carcinoma|Laryngeal Squamous Cell Carcinoma|Oral Cavity Squamous Cell Carcinoma|Oral Squamous Cell Carcinoma|Oral Squamous Cell Carcinomas|Oral Tongue Squamous Cell Carcinoma|Oropharyngeal Squamous Cell Carcinoma|Squamous Cell Carcinoma, Head And Neck|Squamous Cell Carcinoma of Larynx|Squamous Cell Carcinoma of the Head and Neck|Squamous Cell Carcinoma of the Larynx|Squamous Cell Carcinoma of the Mouth|Squamous Cell Carcinoma of the Nasal Cavity Cancer Squamous Intraepithelial Lesions MESH:D000081483 A cytological test finding that shows abnormal lesions of SQUAMOUS EPITHELIAL cells. MESH:D065308 C23.149.688 C23.149 High Grade Squamous Intraepithelial Lesion|High-Grade Squamous Intraepithelial Lesion|High Grade Squamous Intraepithelial Lesions|High-Grade Squamous Intraepithelial Lesions|HSIL, High Grade Squamous Intraepithelial Lesion|HSIL, High Grade Squamous Intraepithelial Lesions|HSIL, High-Grade Squamous Intraepithelial Lesions|Intraepithelial Lesion, Squamous|Lesions, Squamous Intraepithelial|Low Grade Squamous Intraepithelial Lesion|Low-Grade Squamous Intraepithelial Lesion|Low Grade Squamous Intraepithelial Lesions|Low-Grade Squamous Intraepithelial Lesions|LSIL ASC-H|LSIL, Atypical Squamous Cells Cannot Exclude HSIL|LSIL, Low Grade Squamous Intraepithelial Lesion|LSIL, Low-Grade Squamous Intraepithelial Lesion|LSIL, Low Grade Squamous Intraepithelial Lesions|LSIL, Low-Grade Squamous Intraepithelial Lesions|Squamous Intraepithelial Lesion Squamous Intraepithelial Lesions of the Cervix MESH:D065310 A cytological test finding often from PAP SMEARS that shows abnormal lesions of SQUAMOUS EPITHELIAL CELLS of the CERVIX. It is a diagnostic criterion used in the Bethesda System for UTERINE CERVICAL NEOPLASMS and represents the PAP TEST result that is abnormal. Although squamous intraepithelial lesions test result does not mean UTERINE CERVICAL NEOPLASMS it requires follow-ups (e.g., HPV DNA TESTS; and COLPOSCOPY). MESH:D000081483|MESH:D002578 C04.834.818.500|C12.050.351.500.852.593.074.500|C12.100.250.852.593.074.500|C23.149.688.500 C04.834.818|C12.050.351.500.852.593.074|C12.100.250.852.593.074|C23.149.688 Cancer|Urogenital disease (female) Staghorn Calculi MESH:D000069856 Renal calculi with a characteristic shape like antlers of a deer, formed as it extends into multiple calices of the RENAL PELVIS. A large number of staghorn calculi as well as other URINARY CALCULI are composed of STRUVITE. MESH:D007669 C12.050.351.968.419.600.500.500|C12.050.351.968.967.249.500.500|C12.050.351.968.967.500.503.500|C12.200.777.419.600.500.500|C12.200.777.967.249.500.500|C12.200.777.967.500.503.500|C12.950.419.600.500.500|C12.950.967.249.500.500|C12.950.967.500.503.500|C23.300.175.850.550.500 C12.050.351.968.419.600.500|C12.050.351.968.967.249.500|C12.050.351.968.967.500.503|C12.200.777.419.600.500|C12.200.777.967.249.500|C12.200.777.967.500.503|C12.950.419.600.500|C12.950.967.249.500|C12.950.967.500.503|C23.300.175.850.550 Calculi, Staghorn|Calculus, Staghorn|Staghorn Calculus Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Staphylococcal Food Poisoning MESH:D013202 DO:DOID:96 Poisoning by staphylococcal toxins present in contaminated food. MESH:D005517|MESH:D013203 C01.150.252.410.868.806|C25.723.415.846 C01.150.252.410.868|C25.723.415 Food Poisonings, Staphylococcal|Food Poisoning, Staphylococcal|Poisonings, Staphylococcal Food|Poisoning, Staphylococcal Food|Staphylococcal Food Poisonings Bacterial infection or mycosis Staphylococcal Infections MESH:D013203 Infections with bacteria of the genus STAPHYLOCOCCUS. MESH:D016908 C01.150.252.410.868 C01.150.252.410 Infections, Staphylococcal|Staphylococcal Infection|Staphylococcus aureus Infection|Staphylococcus aureus Infections Bacterial infection or mycosis Staphylococcal Scalded Skin Syndrome MESH:D013206 DO:DOID:9063 A disease of infants due to group 2 phage type 17 staphylococci that produce an epidermolytic exotoxin. Superficial fine vesicles and bullae form and rupture easily, resulting in loss of large sheets of epidermis. MESH:D013207 C01.150.252.410.868.951.770|C01.150.252.819.770.770|C01.800.720.770.770|C17.800.838.765.770.770 C01.150.252.410.868.951|C01.150.252.819.770|C01.800.720.770|C17.800.838.765.770 Disease, Ritter|Disease, Ritter's|Ritter Disease|Ritter's Disease|Ritters Disease|Scalded-Skin Syndromes, Staphylococcal|Scalded Skin Syndrome, Staphylococcal|Scalded-Skin Syndrome, Staphylococcal|Staphylococcal Scalded-Skin Syndrome|Staphylococcal Scalded-Skin Syndromes|Syndromes, Staphylococcal Scalded-Skin|Syndrome, Staphylococcal Scalded-Skin Bacterial infection or mycosis|Skin disease Staphylococcal Skin Infections MESH:D013207 Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS. MESH:D013203|MESH:D017192 C01.150.252.410.868.951|C01.150.252.819.770|C01.800.720.770|C17.800.838.765.770 C01.150.252.410.868|C01.150.252.819|C01.800.720|C17.800.838.765 Infections, Staphylococcal Skin|Skin Diseases, Staphylococcal|Skin Infections, Staphylococcal|Staphylococcal Diseases, Skin|Staphylococcal Infections, Skin|Staphylococcal Skin Diseases Bacterial infection or mycosis|Skin disease Stargardt Disease MESH:D000080362 DO:DOID:0050817|OMIM:248200 A juvenile-onset macular dystrophy characterized by progressive loss of VISUAL ACUITY with normal acuity in peripheral VISUAL FIELDS. Other associated clinical features may include LIPOFUSCIN fundus autofluorescence, atrophy of the RETINAL PIGMENT EPITHELIUM, loss of color vision, PHOTOPHOBIA and PARACENTRAL SCOTOMA. Germline mutations in the ABCA4 gene have been identified in recessive and dominant diseases. MESH:D008268|MESH:D015785 C11.270.872|C11.768.585.439.339|C16.320.290.724 C11.270|C11.768.585.439|C16.320.290 Degeneration, Juvenile Macular|Degeneration, Stargardt Macular|FFM, INCLUDED|Fundus Flavimaculatus|Juvenile Macular Degeneration|Juvenile Macular Degenerations|Macular Degeneration, Juvenile|Macular Degeneration, Stargardt|Macular Dystrophy With Flecks, Type 1|MACULAR DYSTROPHY WITH FLECKS, TYPE 1 FUNDUS FLAVIMACULATUS, INCLUDED|RETINAL DYSTROPHY, EARLY-ONSET SEVERE, INCLUDED|Stargardt Disease 1|Stargardt Macular Degeneration|Stargardt Macular Degenerations|STGD|STGD1 Eye disease|Genetic disease (inborn) Stargardt disease 3 MESH:C535805 OMIM:600110 MESH:D008268 C11.768.585.439/C535805 C11.768.585.439 Macular dystrophy, autosomal dominant, chromosome 6-linked,|Macular dystrophy with flecks, type 3|Stargardt-Like Macular Dystrophy, Autosomal Dominant|STGD3 Eye disease Stargardt disease 4 MESH:C535521 OMIM:603786 MESH:D008268 C11.768.585.439/C535521 C11.768.585.439 STGD4 Eye disease Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features MESH:C548086 MESH:D000015|MESH:D008268|MESH:D061085 C10.500.034/C548086|C11.768.585.439/C548086|C16.131.077/C548086|C16.131.666.034/C548086|C23.300.008/C548086 C10.500.034|C11.768.585.439|C16.131.077|C16.131.666.034|C23.300.008 Congenital abnormality|Eye disease|Nervous system disease|Pathology (anatomical condition) Starvation MESH:D013217 Lengthy and continuous deprivation of food. (Stedman, 25th ed) MESH:D044342 C18.654.521.750 C18.654.521 Nutrition disorder Status Asthmaticus MESH:D013224 DO:DOID:9362 A sudden intense and continuous aggravation of a state of asthma, marked by dyspnea to the point of exhaustion and collapse and not responding to the usual therapeutic efforts. MESH:D001249 C08.127.108.880|C08.674.095.880|C20.543.480.680.095.880 C08.127.108|C08.674.095|C20.543.480.680.095 Asthmatic Crises|Asthmatic Crisis|Asthmatic Shock|Asthmatic Shocks|Asthmaticus, Status|Crises, Asthmatic|Crisis, Asthmatic|Shock, Asthmatic|Shocks, Asthmatic Immune system disease|Respiratory tract disease Status Epilepticus MESH:D013226 DO:DOID:1824 A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30) MESH:D012640 C10.597.742.785|C23.888.592.742.785 C10.597.742|C23.888.592.742 Absence Status|Complex Partial Status Epilepticus|Electrographic Status Epilepticus|Generalized Convulsive Status Epilepticus|Generalized Status Epilepticus|Grand Mal Status Epilepticus|Non Convulsive Status Epilepticus|Non-Convulsive Status Epilepticus|Petit Mal Status|Simple Partial Status Epilepticus|Status, Absence|Status Epilepticus, Complex Partial|Status Epilepticus, Electrographic|Status Epilepticus, Generalized|Status Epilepticus, Generalized Convulsive|Status Epilepticus, Grand Mal|Status Epilepticus, Non Convulsive|Status Epilepticus, Non-Convulsive|Status Epilepticus, Simple Partial|Status Epilepticus, Subclinical|Status, Petit Mal|Subclinical Status Epilepticus Nervous system disease|Signs and symptoms Steatitis MESH:D013231 A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed) MESH:D000820|MESH:D014811 C18.654.521.500.133.841.682|C22.880 C18.654.521.500.133.841|C22 Steatitides Animal disease|Nutrition disorder Steatocystoma Multiplex MESH:D062685 DO:DOID:0111556|OMIM:184500 A disorder characterized by multiple, wide spread cutaneous cysts that often become inflamed and rupture. It is caused by the same mutations in the gene coding for KRT-17 that are causative mutations for Pachyonychia congenita, Type 2. Natal teeth involvement is sometimes associated with steatocystoma multiplex. MESH:D053549 C16.131.831.350.856.500|C16.320.850.250.856.500|C17.800.529.594.500|C17.800.804.350.856.500|C17.800.827.250.856.500 C16.131.831.350.856|C16.320.850.250.856|C17.800.529.594|C17.800.804.350.856|C17.800.827.250.856 Cyst, Multiple Sebaceous|Cysts, Multiple Sebaceous|Multiple Sebaceous Cyst|Multiple Sebaceous Cysts|Multiplex Steatocystoma|Multiplex Steatocystomas|Sebaceous Cyst, Multiple|Sebaceous Cysts, Multiple|Steatocystoma, Multiplex|Steatocystoma Multiplices|Steatocystomas, Multiplex Congenital abnormality|Genetic disease (inborn)|Skin disease Steatocystoma multiplex with natal teeth MESH:C537487 MESH:D009264|MESH:D062685 C16.131.831.350.856.500/C537487|C16.320.850.250.856.500/C537487|C17.800.529.594.500/C537487|C17.800.804.350.856.500/C537487|C17.800.827.250.856.500/C537487|C23.300.820/C537487 C16.131.831.350.856.500|C16.320.850.250.856.500|C17.800.529.594.500|C17.800.804.350.856.500|C17.800.827.250.856.500|C23.300.820 Natal teeth and steatocystoma multiplex Congenital abnormality|Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease Steatorrhea MESH:D045602 A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS. MESH:D008286 C06.405.469.637.887|C18.452.603.887 C06.405.469.637|C18.452.603 Digestive system disease|Metabolic disease Steinfeld Syndrome MESH:C566655 MESH:D006330|MESH:D016142|MESH:D017880 C05.660.207.410/C566655|C05.660.585/C566655|C10.500.034.875/C566655|C14.240.400/C566655|C14.280.400/C566655|C16.131.077.410/C566655|C16.131.240.400/C566655|C16.131.260.380/C566655|C16.131.621.207.410/C566655|C16.131.621.585/C566655|C16.131.666.034.875/C566655|C16.320.180.380/C566655 C05.660.207.410|C05.660.585|C10.500.034.875|C14.240.400|C14.280.400|C16.131.077.410|C16.131.240.400|C16.131.260.380|C16.131.621.207.410|C16.131.621.585|C16.131.666.034.875|C16.320.180.380 Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease ST Elevation Myocardial Infarction MESH:D000072657 A clinical syndrome defined by MYOCARDIAL ISCHEMIA symptoms; persistent elevation in the ST segments of the ELECTROCARDIOGRAM; and release of BIOMARKERS of myocardial NECROSIS (e.g., elevated TROPONIN levels). ST segment elevation in the ECG is often used in determining the treatment protocol (see also NON-ST ELEVATION MYOCARDIAL INFARCTION). MESH:D009203 C14.280.647.500.875|C14.907.585.500.875|C23.550.513.355.750.875|C23.550.717.489.750.875 C14.280.647.500|C14.907.585.500|C23.550.513.355.750|C23.550.717.489.750 ST Elevated Myocardial Infarction|STEMI|ST Segment Elevation Myocardial Infarction Cardiovascular disease|Pathology (process) Stenosis, Pulmonary Artery MESH:D000071079 Narrowing of the PULMONARY ARTERIES. MESH:D001157 C14.907.137.825 C14.907.137 Artery Stenoses, Pulmonary|Artery Stenosis, Pulmonary|Pulmonary Artery Stenoses|Pulmonary Artery Stenosis|Stenoses, Pulmonary Artery Cardiovascular disease Stenosis, Pulmonary Vein MESH:D000071078 Narrowing of the PULMONARY VEIN. MESH:D014652 C14.907.798 C14.907 Pulmonary Vein Stenoses|Pulmonary Vein Stenosis|Stenoses, Pulmonary Vein|Vein Stenoses, Pulmonary|Vein Stenosis, Pulmonary Cardiovascular disease Stenotrophomonas maltophilia bacteremia MESH:C531821 MESH:D016905 C01.150.252.400/C531821 C01.150.252.400 Stenotrophomonas maltophilia bacteraemia Bacterial infection or mycosis Stereotypic Movement Disorder MESH:D019956 DO:DOID:2303 Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (DSM-IV, 1994) MESH:D065886 F03.625.984 F03.625 Body Rocking|Head Banging|Movement Disorder, Stereotypic|Stereotypic Movement Disorders Mental disorder Sternal cleft MESH:C537489 MESH:D009139 C05.660/C537489|C16.131.621/C537489 C05.660|C16.131.621 Congenital sternal cleft Congenital abnormality|Musculoskeletal disease Stern Lubinsky Durrie syndrome MESH:C537488 MESH:D003316|MESH:D006130|MESH:D007645|MESH:D017880 C05.660.585/C537488|C11.204/C537488|C16.131.621.585/C537488|C16.320.850.475/C537488|C17.800.428.435/C537488|C17.800.827.475/C537488|C23.550.393/C537488 C05.660.585|C11.204|C16.131.621.585|C16.320.850.475|C17.800.428.435|C17.800.827.475|C23.550.393 Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Skin disease Steroid Metabolism, Inborn Errors MESH:D043202 DO:DOID:1701 Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero. MESH:D008661 C16.320.565.925|C18.452.648.925 C16.320.565|C18.452.648 Congenital Errors of Steroid Metabolism|Inborn Errors of Steroid Metabolism|Steroid Metabolic Diseases, Inborn Genetic disease (inborn)|Metabolic disease Stevens-Johnson Syndrome MESH:D013262 DO:DOID:0050426|OMIM:608579 Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis. MESH:D003875|MESH:D004892|MESH:D006968|MESH:D013280 C07.465.864.500|C17.800.174.600.900|C17.800.229.400.683|C17.800.865.475.683|C20.543.418.787|C25.100.468.380.900 C07.465.864|C17.800.174.600|C17.800.229.400|C17.800.865.475|C20.543.418|C25.100.468.380 Drug Induced Stevens Johnson Syndrome|Drug-Induced Stevens Johnson Syndrome|Drug-Induced Stevens-Johnson Syndrome|Drug-Induced Stevens-Johnson Syndromes|Epidermal Necrolyses, Toxic|Epidermal Necrolysis, Toxic|HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO, INCLUDED|Lyell's Syndrome|Lyell's Syndromes|Lyell Syndrome|Mycoplasma Induced Stevens Johnson Syndrome|Mycoplasma-Induced Stevens Johnson Syndrome|Mycoplasma-Induced Stevens-Johnson Syndrome|Necrolyses, Toxic Epidermal|Necrolysis, Toxic Epidermal|Nonstaphylococcal Scalded Skin Syndrome|Scalded Skin Syndrome, Nonstaphylococcal|SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO|Stevens Johnson Syndrome|Stevens-Johnson Syndrome, Drug-Induced|Stevens-Johnson Syndrome, Mycoplasma-Induced|Stevens-Johnson Syndromes, Drug-Induced|STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO, INCLUDED|Stevens Johnson Syndrome Toxic Epidermal Necrolysis|Stevens-Johnson Syndrome Toxic Epidermal Necrolysis|Stevens Johnson Syndrome Toxic Epidermal Necrolysis Spectrum|Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum|Syndrome, Lyell's|Syndrome, Mycoplasma-Induced Stevens-Johnson|Syndromes, Lyell's|Toxic Epidermal Necrolyses|Toxic Epidermal Necrolysis|Toxic Epidermal Necrolysis Stevens Johnson Syndrome|Toxic Epidermal Necrolysis Stevens-Johnson Syndrome|Toxic Epidermal Necrolysis Stevens Johnson Syndrome Spectrum|Toxic Epidermal Necrolysis Stevens-Johnson Syndrome Spectrum|TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO, INCLUDED Immune system disease|Mouth disease|Skin disease Stevenson-Carey Syndrome MESH:C567446 MESH:D000015|MESH:D002526|MESH:D008607|MESH:D010855 C05.500.460.606/C567446|C05.660.207.540.460.606/C567446|C07.320.440.606/C567446|C07.650.500.460.606/C567446|C10.228.140.252/C567446|C10.597.606.360/C567446|C16.131.077/C567446|C16.131.621.207.540.460.606/C567446|C16.131.850.500.460.606/C567446|C23.888.592.604.646/C567446|F03.625.539/C567446 C05.500.460.606|C05.660.207.540.460.606|C07.320.440.606|C07.650.500.460.606|C10.228.140.252|C10.597.606.360|C16.131.077|C16.131.621.207.540.460.606|C16.131.850.500.460.606|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Stewart Treves syndrome MESH:C537491 DO:DOID:2689 MESH:D006394|MESH:D008204 C04.557.375.480/C537491|C04.557.450.795.390/C537491|C04.557.450.795.480/C537491|C04.557.645.390/C537491 C04.557.375.480|C04.557.450.795.390|C04.557.450.795.480|C04.557.645.390 Angiosarcoma associated with chronic lymphedema|Lymphangiosarcoma following mastectomy|Postmastectomy extremity angiosarcoma Cancer Stickler Syndrome, Autosomal Recessive, COL9A1-Related MESH:C565177 MESH:D003240|MESH:D006319|MESH:D009216|MESH:D012164|MESH:D019465 C05.660.207/C565177|C09.218.458.341.887/C565177|C10.597.751.418.341.887/C565177|C11.744.636/C565177|C11.768/C565177|C16.131.621.207/C565177|C17.300/C565177|C23.888.592.763.393.341.887/C565177 C05.660.207|C09.218.458.341.887|C10.597.751.418.341.887|C11.744.636|C11.768|C16.131.621.207|C17.300|C23.888.592.763.393.341.887 Congenital abnormality|Connective tissue disease|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Stickler syndrome, type 1 MESH:C537492 OMIM:108300 MESH:D001168|MESH:D003240|MESH:D006319|MESH:D012163 C05.550.114/C537492|C09.218.458.341.887/C537492|C10.597.751.418.341.887/C537492|C11.768.648/C537492|C17.300/C537492|C23.888.592.763.393.341.887/C537492 C05.550.114|C09.218.458.341.887|C10.597.751.418.341.887|C11.768.648|C17.300|C23.888.592.763.393.341.887 AOM|Arthroophthalmopathy, hereditary progressive|Hereditary Arthro-Ophthalmo-Dystrophy|Hereditary Arthro-Ophthalmopathy|Stickler Dysplasia|Stickler Syndrome|Stickler syndrome, membranous vitreous type|Stickler Syndrome, Type I|Stickler syndrome, vitreous type 1|STL1 Connective tissue disease|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Stickler syndrome, type 2 MESH:C537493 OMIM:604841 MESH:D003240|MESH:D020255 C11.980/C537493|C17.300/C537493 C11.980|C17.300 Stickler syndrome, beaded vitreous type|Stickler Syndrome, Type II|Stickler syndrome, vitreous type 2|STL2 Connective tissue disease|Eye disease Stickler syndrome, type 3 MESH:C537494 MESH:D001168|MESH:D003240 C05.550.114/C537494|C17.300/C537494 C05.550.114|C17.300 Stickler syndrome nonocular type|Stickler Syndrome, Nonocular Type|Stickler Syndrome, Type III Connective tissue disease|Musculoskeletal disease Stickler Syndrome, Type I, Nonsyndromic Ocular MESH:C563709 OMIM:609508 MESH:D015785 C11.270/C563709|C16.320.290/C563709 C11.270|C16.320.290 DRRD, INCLUDED|Stickler Syndrome, Atypical|STICKLER SYNDROME, ATYPICAL RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED|Stickler Syndrome, Type I, Predominantly Ocular Eye disease|Genetic disease (inborn) STICKLER SYNDROME, TYPE IV OMIM:614134 MESH:D006319|MESH:D009216|MESH:D012162 C09.218.458.341.887/614134|C10.597.751.418.341.887/614134|C11.270.612/614134|C11.744.636/614134|C11.768.585/614134|C23.888.592.763.393.341.887/614134 C09.218.458.341.887|C10.597.751.418.341.887|C11.270.612|C11.744.636|C11.768.585|C23.888.592.763.393.341.887 STL4 Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms STICKLER SYNDROME, TYPE V OMIM:614284 MESH:D006319|MESH:D009216|MESH:D012162|MESH:D012163 C09.218.458.341.887/614284|C10.597.751.418.341.887/614284|C11.270.612/614284|C11.744.636/614284|C11.768.585/614284|C11.768.648/614284|C23.888.592.763.393.341.887/614284 C09.218.458.341.887|C10.597.751.418.341.887|C11.270.612|C11.744.636|C11.768.585|C11.768.648|C23.888.592.763.393.341.887 STL5 Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms Stiff-Person Syndrome MESH:D016750 DO:DOID:13366|OMIM:184850 A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93) MESH:D009468|MESH:D013118|MESH:D020274 C10.114.812|C10.228.854.790|C10.668.900|C20.111.258.850 C10.114|C10.228.854|C10.668|C20.111.258 Congenital Stiff Man Syndrome|Congenital Stiff-Man Syndrome|Congenital Stiff-Man Syndromes|Congenital Stiff-Person Syndrome|Congenital Stiff-Person Syndromes|Familial Hyperekplexia|Familial Hyperekplexias|Hereditary Hyperekplexia|Hereditary Hyperekplexias|Hyperekplexia, Familial|Hyperekplexia, Hereditary|Hyperekplexias, Familial|Hyperekplexias, Hereditary|Moersch Woltmann Syndrome|Moersch-Woltmann Syndrome|PER, INCLUDED|PERM, INCLUDED|SPS|Startle Syndrome|Startle Syndromes|Stiff-Baby Syndrome|Stiff-Baby Syndromes|Stiffman Syndrome|Stiff Man Syndrome|Stiff-Man Syndrome|Stiff-Man Syndrome, Congenital|Stiff-Man Syndromes, Congenital|Stiff Person Syndrome|Stiff-Person Syndrome, Congenital|Stiff-Person Syndromes, Congenital|Stiff Trunk Syndrome|Stiff-Trunk Syndrome|STIFF-TRUNK SYNDROME PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY, INCLUDED|Stiff-Trunk Syndromes|Syndrome, Congenital Stiff-Man|Syndrome, Congenital Stiff-Person|Syndrome, Moersch-Woltmann|Syndromes, Congenital Stiff-Man|Syndromes, Congenital Stiff-Person|Syndromes, Startle|Syndromes, Stiff-Baby|Syndromes, Stiff-Trunk|Syndrome, Startle|Syndrome, Stiff-Baby|Syndrome, Stiffman|Syndrome, Stiff-Man|Syndrome, Stiff-Person|Syndrome, Stiff-Trunk Immune system disease|Nervous system disease Stiff Skin Syndrome MESH:C566112 DO:DOID:0111561|OMIM:184900 MESH:D003286|MESH:D012873 C05.550.323/C566112|C05.651.197/C566112|C16.320.850/C566112|C17.800.827/C566112 C05.550.323|C05.651.197|C16.320.850|C17.800.827 SSKS Genetic disease (inborn)|Musculoskeletal disease|Skin disease Stillbirth MESH:D050497 The event that a FETUS is born dead or stillborn. MESH:D005313 C12.050.703.223.650|C23.550.260.585.630 C12.050.703.223|C23.550.260.585 Stillbirths Pathology (process)|Pregnancy complication Still's Disease, Adult-Onset MESH:D016706 DO:DOID:14256 Systemic-onset rheumatoid arthritis in adults. It differs from classical rheumatoid arthritis in that it is more often marked by acute febrile onset, and generalized lymphadenopathy and hepatosplenomegaly are more prominent. MESH:D001172 C05.550.114.154.870|C05.799.114.870|C17.300.775.099.870|C20.111.199.870 C05.550.114.154|C05.799.114|C17.300.775.099|C20.111.199 Adult Onset Still Disease|Adult-Onset Still Disease|Adult Onset Still's Disease|Adult-Onset Still's Disease|Adult-Onset Stills Disease|Still Disease, Adult Onset|Still Disease, Adult-Onset|Still's Disease, Adult Onset|Stills Disease, Adult-Onset Connective tissue disease|Immune system disease|Musculoskeletal disease STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET OMIM:615934 DO:DOID:0111457 MESH:D014652 C14.907/615934 C14.907 AUTOINFLAMMATORY-VASCULOPATHY SYNDROME|SAVI Cardiovascular disease Stocco dos Santos syndrome MESH:C537495 OMIM:300434 MESH:D038901 C10.597.606.360.455/C537495|C16.320.322.500/C537495|C16.320.400.525/C537495 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, STOCCO DOS SANTOS TYPE|Mental retardation, Stocco dos Santos type|Mental Retardation, X-Linked, Stocco Dos Santos Type|MENTAL RETARDATION, X-LINKED, SYNDROMIC, STOCCO DOS SANTOS TYPE|MRXSDS|SDSX|Stocco dos Santos X-linked mental retardation syndrome Genetic disease (inborn)|Nervous system disease Stoelinga de Koomen Davis syndrome MESH:C537496 MESH:D000015|MESH:D056304 C05.116.482/C537496|C16.131.077/C537496 C05.116.482|C16.131.077 Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|Non erupted teeth with maxillary hypoplasia and genu valgum Congenital abnormality|Musculoskeletal disease Stoll Alembik Dott syndrome MESH:C537497 MESH:D005532|MESH:D006228|MESH:D010855|MESH:D013575|MESH:D018879 C05.330.495/C537497|C05.390.408/C537497|C05.500.460.606/C537497|C05.660.207.540.460.606/C537497|C05.660.585.512.380/C537497|C05.660.585.988.425/C537497|C07.320.440.606/C537497|C07.650.500.460.606/C537497|C10.597.606.358.800.600/C537497|C14.280.067.325.500/C537497|C14.280.123.375.500/C537497|C16.131.621.207.540.460.606/C537497|C16.131.621.585.512.500/C537497|C16.131.621.585.988.500/C537497|C16.131.850.500.460.606/C537497|C23.550.073.325.800/C537497|C23.888.592.604.359.800.600/C537497 C05.330.495|C05.390.408|C05.500.460.606|C05.660.207.540.460.606|C05.660.585.512.380|C05.660.585.988.425|C07.320.440.606|C07.650.500.460.606|C10.597.606.358.800.600|C14.280.067.325.500|C14.280.123.375.500|C16.131.621.207.540.460.606|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.131.850.500.460.606|C23.550.073.325.800|C23.888.592.604.359.800.600 Ventricular extrasystoles with syncope, perodactyly, and robin sequence Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Stoll Levy Francfort syndrome MESH:C537498 MESH:D001848|MESH:D006314 C05.116.099/C537498|C09.218.458.341.562/C537498|C10.597.751.418.341.562/C537498|C23.888.592.763.393.341.562/C537498 C05.116.099|C09.218.458.341.562|C10.597.751.418.341.562|C23.888.592.763.393.341.562 Facioauriculoradial dysplasia|Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Stomach Diseases MESH:D013272 DO:DOID:76 Pathological processes involving the STOMACH. MESH:D005767 C06.405.748 C06.405 Disease, Gastric|Diseases, Gastric|Diseases, Stomach|Disease, Stomach|Gastric Disease|Gastric Diseases|Stomach Disease Digestive system disease Stomach Neoplasms MESH:D013274 DO:DOID:10534|OMIM:137215|OMIM:613659 Tumors or cancer of the STOMACH. MESH:D005770|MESH:D013272 C04.588.274.476.767|C06.301.371.767|C06.405.249.767|C06.405.748.789 C04.588.274.476|C06.301.371|C06.405.249|C06.405.748 Cancer, Gastric|Cancer of Stomach|Cancer of the Stomach|Cancers, Gastric|Cancers, Stomach|Cancer, Stomach|DGLBC|DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME|Gastric Cancer|Gastric Cancer, Familial Diffuse|GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR;LBC DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME WITH CLEFT LIP AND WITH OR WITHOUT CLEFT PALATE, INCLUDED|GASTRIC CANCER, HEREDITARY DIFFUSE|GASTRIC CANCER, INTESTINAL, INCLUDED|Gastric Cancers|Gastric Neoplasm|Gastric Neoplasms|HDGC|Neoplasm, Gastric|Neoplasms, Gastric|Neoplasms, Stomach|Neoplasm, Stomach|Stomach Cancer|Stomach Cancers|Stomach Neoplasm Cancer|Digestive system disease Stomach Rupture MESH:D013275 Bursting of the STOMACH. MESH:D000007|MESH:D012421|MESH:D013272 C06.405.748.824|C26.017.809|C26.761.684 C06.405.748|C26.017|C26.761 Gastric Rupture|Gastric Ruptures|Rupture, Gastric|Ruptures, Gastric|Ruptures, Stomach|Rupture, Stomach|Stomach Ruptures Digestive system disease|Wounds and injuries Stomach Ulcer MESH:D013276 DO:DOID:10808 Ulceration of the GASTRIC MUCOSA due to contact with GASTRIC JUICE. It is often associated with HELICOBACTER PYLORI infection or consumption of nonsteroidal anti-inflammatory drugs (NSAIDS). MESH:D010437 C06.405.469.275.800.849|C06.405.748.586.849 C06.405.469.275.800|C06.405.748.586 Gastric Ulcer|Gastric Ulcers|Stomach Ulcers|Ulcer, Gastric|Ulcers, Gastric|Ulcers, Stomach|Ulcer, Stomach Digestive system disease Stomach Volvulus MESH:D013277 Twisting of the STOMACH that may result in gastric ISCHEMIA and GASTRIC OUTLET OBSTRUCTION. It is often associated with DIAPHRAGMATIC HERNIA. MESH:D013272 C06.405.748.895 C06.405.748 Gastric Volvulus|Volvulus, Gastric|Volvulus, Stomach Digestive system disease Stomatitis MESH:D013280 DO:DOID:9637 INFLAMMATION of the soft tissues of the MOUTH, such as MUCOSA; PALATE; GINGIVA; and LIP. MESH:D009059 C07.465.864 C07.465 Mucositides, Oral|Mucositis, Oral|Oral Mucositides|Oral Mucositis|Oromucositides|Oromucositis|Stomatitides Mouth disease Stomatitis, Aphthous MESH:D013281 DO:DOID:9663 A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742) MESH:D013280 C07.465.864.750 C07.465.864 Aphthae|Aphthous Stomatitides|Aphthous Stomatitis|Aphthous Ulcer|Aphthous Ulcers|Canker Sore|Canker Sores|Periadenitis Mucosa Necrotica Recurrens|Sore, Canker|Sores, Canker|Stomatitides, Aphthous|Ulcer, Aphthous|Ulcers, Aphthous Mouth disease Stomatitis, Denture MESH:D013282 DO:DOID:11875 Inflammation of the mouth due to denture irritation. MESH:D013280 C07.465.864.875 C07.465.864 Denture Stomatitides|Denture Stomatitis|Stomatitides, Denture Mouth disease Stomatitis, Herpetic MESH:D013283 Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents. MESH:D006561|MESH:D013280 C01.925.256.466.382.834|C07.465.864.937 C01.925.256.466.382|C07.465.864 Gingivostomatitides, Herpetic|Gingivostomatitis, Herpetic|Herpes Simplex, Oral|Herpetic Gingivostomatitides|Herpetic Gingivostomatitis|Herpetic Stomatitides|Herpetic Stomatitis|Oral Herpes Simplex|Simplex, Oral Herpes|Stomatitides, Herpetic Mouth disease|Viral disease Stomatocytosis I MESH:C566111 OMIM:185000 MESH:D000137|MESH:D000745|MESH:D008661 C15.378.071.141.150/C566111|C16.320.070/C566111|C16.320.565/C566111|C18.452.076/C566111|C18.452.648/C566111 C15.378.071.141.150|C16.320.070|C16.320.565|C18.452.076|C18.452.648 OHS|OHST|Overhydrated Hereditary Stomatocytosis|Potassium-Sodium Disorder Of Erythrocyte Blood disease|Genetic disease (inborn)|Metabolic disease Stomatocytosis II MESH:C566110 MESH:D000137|MESH:D000745|MESH:D008661 C15.378.071.141.150/C566110|C16.320.070/C566110|C16.320.565/C566110|C18.452.076/C566110|C18.452.648/C566110 C15.378.071.141.150|C16.320.070|C16.320.565|C18.452.076|C18.452.648 Blood disease|Genetic disease (inborn)|Metabolic disease Stomatodynia MESH:C531639 MESH:D002054 C07.465.114/C531639 C07.465.114 Mouth disease Stomatognathic Diseases MESH:D009057 General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx. MESH:C C07 C Dental Disease|Dental Diseases|Disease, Dental|Diseases, Dental|Diseases, Stomatognathic|Disease, Stomatognathic|Mouth and Tooth Diseases|Stomatognathic Disease Mouth disease Stomatognathic System Abnormalities MESH:D018640 Congenital structural abnormalities of the mouth and jaws, including the dentition. MESH:D000013|MESH:D009057 C07.650|C16.131.850 C07|C16.131 Abnormalities, Stomatognathic System|Abnormality, Stomatognathic System|Stomatognathic System Abnormality Congenital abnormality|Mouth disease Stormorken Syndrome MESH:C566108 DO:DOID:0060354 MESH:D001791|MESH:D004410|MESH:D007057|MESH:D008881|MESH:D015877 C10.228.140.546.399.750/C566108|C10.597.606.150.500.300/C566108|C10.597.606.150.550.200/C566108|C10.597.690.362/C566108|C11.710.528/C566108|C15.378.140/C566108|C16.131.831.512/C566108|C16.614.492/C566108|C17.800.428.333/C566108|C17.800.804.512/C566108|C23.888.592.604.150.500.300/C566108|C23.888.592.604.150.550.200/C566108|C23.888.592.708.362/C566108|F03.625.562.400/C566108 C10.228.140.546.399.750|C10.597.606.150.500.300|C10.597.606.150.550.200|C10.597.690.362|C11.710.528|C15.378.140|C16.131.831.512|C16.614.492|C17.800.428.333|C17.800.804.512|C23.888.592.604.150.500.300|C23.888.592.604.150.550.200|C23.888.592.708.362|F03.625.562.400 Thrombocytopathy, Asplenia, and Miosis Blood disease|Congenital abnormality|Eye disease|Infant-newborn disease|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Storm Syndrome MESH:C566109 MESH:D002114|MESH:D006349|MESH:D007039|MESH:D012873 C14.280.484/C566109|C16.320.850/C566109|C17.800.329.937/C566109|C17.800.827/C566109|C18.452.174.130/C566109 C14.280.484|C16.320.850|C17.800.329.937|C17.800.827|C18.452.174.130 Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Skin disease Strabismus MESH:D013285 DO:DOID:9306|DO:DOID:9837|OMIM:185100 Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641) MESH:D015835 C10.292.562.887|C11.590.810 C10.292.562|C11.590 Comitant Strabismus|Comitant Strabismus, Convergent|Concomitant Strabismus|Convergent Comitant Strabismus|Deviation, Dissociated Horizontal|Dissociated Horizontal Deviation|Dissociated Horizontal Deviations|Dissociated Vertical Deviation|Dissociated Vertical Deviations|Heterophoria|Heterophorias|Heterotropia|Heterotropias|Horizontal Deviation, Dissociated|Hypertropia|Hypertropias|Mechanical Strabismus|Noncomitant Strabismus|Nonconcomitant Strabismus|Non Concomitant Strabismus|Non-Concomitant Strabismus|Phoria|Phorias|Squint|STBMS1, INCLUDED|Strabismus, Comitant|Strabismus, Concomitant|Strabismus, Convergent Comitant|Strabismus, Mechanical|Strabismus, Noncomitant|Strabismus, Nonconcomitant|Strabismus, Non-Concomitant|STRABISMUS, SUSCEPTIBILITY TO|STRABISMUS, SUSCEPTIBILITY TO, 1, INCLUDED Eye disease|Nervous system disease Stratton-Parker Syndrome MESH:C566105 MESH:D001006|MESH:D006330|MESH:D007021|MESH:D017880 C05.660.585/C566105|C06.198.050/C566105|C12.050.351.875.466/C566105|C12.100.500.494.400/C566105|C12.200.294.494.400/C566105|C12.200.706.516/C566105|C12.800.516/C566105|C14.240.400/C566105|C14.280.400/C566105|C16.131.240.400/C566105|C16.131.314.094/C566105|C16.131.621.585/C566105|C16.131.939.516/C566105 C05.660.585|C06.198.050|C12.050.351.875.466|C12.100.500.494.400|C12.200.294.494.400|C12.200.706.516|C12.800.516|C14.240.400|C14.280.400|C16.131.240.400|C16.131.314.094|C16.131.621.585|C16.131.939.516 Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly Cardiovascular disease|Congenital abnormality|Digestive system disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Streptococcal Infections MESH:D013290 Infections with bacteria of the genus STREPTOCOCCUS. MESH:D016908 C01.150.252.410.890 C01.150.252.410 Group A Strep Infection|Group A Streptococcal Infection|Group A Streptococcal Infections|Group B Strep Infection|Group B Streptococcal Infection|Group B Streptococcal Infections|Infections, Streptococcal|Infection, Streptococcal|Streptococcal Infection Bacterial infection or mycosis Stress Disorders, Post-Traumatic MESH:D013313 DO:DOID:2055 A class of traumatic stress disorders with symptoms that last more than one month. MESH:D040921 F03.950.750.500 F03.950.750 Acute Post Traumatic Stress Disorder|Acute Post-Traumatic Stress Disorder|Chronic Post Traumatic Stress Disorder|Chronic Post-Traumatic Stress Disorder|Delayed Onset Post Traumatic Stress Disorder|Delayed Onset Post-Traumatic Stress Disorder|Injury, Moral|Moral Injuries|Moral Injury|Neuroses, Posttraumatic|Neuroses, Post Traumatic|Neuroses, Post-Traumatic|Posttraumatic Neuroses|Post-Traumatic Neuroses|Posttraumatic Stress Disorder|Post Traumatic Stress Disorder|Post-Traumatic Stress Disorder|Posttraumatic Stress Disorders|Post Traumatic Stress Disorders|Post-Traumatic Stress Disorders|PTSD|Stress Disorder, Posttraumatic|Stress Disorder, Post Traumatic|Stress Disorder, Post-Traumatic|Stress Disorders, Posttraumatic Mental disorder Stress Disorders, Traumatic MESH:D040921 Anxiety disorders manifested by the development of characteristic symptoms following a psychologically traumatic event that is outside the normal range of usual human experience. Symptoms include re-experiencing the traumatic event, increased arousal, and numbing of responsiveness to or reduced involvement with the external world. Traumatic stress disorders can be further classified by the time of onset and the duration of these symptoms. MESH:D000068099 F03.950.750 F03.950 Stress Disorder, Traumatic|Traumatic Stress Disorder|Traumatic Stress Disorders Mental disorder Stress Disorders, Traumatic, Acute MESH:D040701 A class of traumatic stress disorders that is characterized by the significant dissociative states seen immediately after overwhelming trauma. By definition it cannot last longer than 1 month, if it persists, a diagnosis of post-traumatic stress disorder (STRESS DISORDERS, POST-TRAUMATIC) is more appropriate. MESH:D040921 F03.950.750.550 F03.950.750 Acute Stress Disorder|Acute Stress Disorders|Stress Disorder, Acute|Stress Disorders, Acute Mental disorder Striae Distensae MESH:D057896 Linear dermal scars accompanied by epidermal atrophy that affects skin that is subjected to continuous stretching. They usually do not cause any significant medical problems, only cosmetic problems. MESH:D012877 C23.888.885.800 C23.888.885 Distensae, Striae|Marks, Stretch|Mark, Stretch|Stretch Mark|Stretch Marks Signs and symptoms Striae Distensae, Familial MESH:C566104 MESH:D057896 C23.888.885.800/C566104 C23.888.885.800 Signs and symptoms Striatal Degeneration, Autosomal Dominant MESH:C563783 OMIM:609161 MESH:D009410 C23.550.737/C563783 C23.550.737 ADSD1|STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 Pathology (process) STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 OMIM:616922 MESH:D020955 C10.177.575.550.875/616922|C10.228.140.079.612.800/616922|C10.228.662.550.800/616922 C10.177.575.550.875|C10.228.140.079.612.800|C10.228.662.550.800 ADSD2 Nervous system disease Striatonigral Degeneration MESH:D020955 DO:DOID:4751 A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN. (From Adams et al., Principles of Neurology, 6th ed, p1075-6) MESH:D019578 C10.177.575.550.875|C10.228.140.079.612.800|C10.228.662.550.800 C10.177.575.550|C10.228.140.079.612|C10.228.662.550 Atrophies, Striatonigral|Atrophy, Striatonigral|Degeneration, Striatonigral|Striatonigral Atrophies|Striatonigral Atrophy|Striatonigral Degenerations Nervous system disease STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET OMIM:617054 MESH:D020955 C10.177.575.550.875/617054|C10.228.140.079.612.800/617054|C10.228.662.550.800/617054 C10.177.575.550.875|C10.228.140.079.612.800|C10.228.662.550.800 LENK-PLOSKI SYNDROME|SNDC Nervous system disease Striatonigral degeneration infantile MESH:C537500 OMIM:271930 MESH:D020955 C10.177.575.550.875/C537500|C10.228.140.079.612.800/C537500|C10.228.662.550.800/C537500 C10.177.575.550.875|C10.228.140.079.612.800|C10.228.662.550.800 Bilateral Striatal Necrosis, Infantile|IBSN|Infantile bilateral striatal necrosis|SNDI|Striatal degeneration familial|Striatal Degeneration, Familial|Striatonigral Degeneration, Infantile Nervous system disease Striatonigral Degeneration, Infantile, Mitochondrial MESH:C564025 MESH:D020955 C10.177.575.550.875/C564025|C10.228.140.079.612.800/C564025|C10.228.662.550.800/C564025 C10.177.575.550.875|C10.228.140.079.612.800|C10.228.662.550.800 Bilateral Striatal Necrosis, Infantile, Mitochondrial|Infantile Bilateral Striatal Necrosis, Mitochondrial Nervous system disease Stridor, Congenital MESH:C563163 MESH:D000013|MESH:D012135 C16.131/C563163|C23.888.852.779/C563163 C16.131|C23.888.852.779 Congenital abnormality|Signs and symptoms Stroke MESH:D020521 OMIM:606799 A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810) MESH:D002561 C10.228.140.300.775|C14.907.253.855 C10.228.140.300|C14.907.253 Acute Cerebrovascular Accident|Acute Cerebrovascular Accidents|Acute Stroke|Acute Strokes|Apoplexy|Apoplexy, Cerebrovascular|Brain Vascular Accident|Brain Vascular Accidents|Cerebral Stroke|Cerebral Strokes|Cerebrovascular Accident|Cerebrovascular Accident, Acute|Cerebrovascular Accidents|Cerebrovascular Accidents, Acute|Cerebrovascular Apoplexy|Cerebrovascular Stroke|Cerebrovascular Strokes|CVA (Cerebrovascular Accident)|CVAs (Cerebrovascular Accident)|STRK1|Stroke, Acute|Stroke, Cerebral|Stroke, Cerebrovascular|Strokes|Strokes, Acute|Strokes, Cerebral|Strokes, Cerebrovascular|STROKE, SUSCEPTIBILITY TO, 1|Vascular Accident, Brain|Vascular Accidents, Brain Cardiovascular disease|Nervous system disease Stroke, Lacunar MESH:D059409 Stroke caused by lacunar infarction or other small vessel diseases of the brain. It features hemiparesis (see PARESIS), hemisensory, or hemisensory motor loss. MESH:D000083244|MESH:D020520|MESH:D059345 C10.228.140.300.275.800|C10.228.140.300.775.400.750.500|C14.907.253.329.800|C14.907.253.855.400.750.500|C23.550.513.355.250.600|C23.550.717.489.250.600 C10.228.140.300.275|C10.228.140.300.775.400.750|C14.907.253.329|C14.907.253.855.400.750|C23.550.513.355.250|C23.550.717.489.250 Infarction, Lacunar|Infarctions, Lacunar|Infarct, Lacunar|Infarcts, Lacunar|Lacunar Infarct|Lacunar Infarction|Lacunar Infarctions|Lacunar Infarcts|Lacunar Stroke|Lacunar Strokes|Lacunar Syndrome|Lacunar Syndromes|Strokes, Lacunar|Syndrome, Lacunar|Syndromes, Lacunar Cardiovascular disease|Nervous system disease|Pathology (process) Strongyle Infections, Equine MESH:D013319 Infection of horses with parasitic nematodes of the superfamily STRONGYLOIDEA. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum. MESH:D006374|MESH:D006734|MESH:D017206 C01.610.335.349.840|C01.610.335.508.700.775.773|C01.610.701.377.840|C22.488.861|C22.674.377.840 C01.610.335.349|C01.610.335.508.700.775|C01.610.701.377|C22.488|C22.674.377 Equine Strongyle Infection|Equine Strongyle Infections|Equine Strongyloses|Equine Strongylosis|Infection, Equine Strongyle|Infections, Equine Strongyle|Strongyle Infection, Equine|Strongyloses, Equine|Strongylosis, Equine Animal disease|Parasitic disease Strongylida Infections MESH:D017206 Infections with nematodes of the order STRONGYLIDA. MESH:D017190 C01.610.335.508.700.775 C01.610.335.508.700 Angiostrongylus Infection|Angiostrongylus Infections|Infection, Angiostrongylus|Infections, Stephanurus dentatus|Infections, Strongylida|Infection, Stephanurus dentatus|Infection, Strongylida|Stephanurus dentatus Infection|Stephanurus dentatus Infections|Strongylida Infection|Syngamiases|Syngamiasis Parasitic disease Strongyloidiasis MESH:D013322 DO:DOID:10955 Infection with nematodes of the genus STRONGYLOIDES. The presence of larvae may produce pneumonitis and the presence of adult worms in the intestine could lead to moderate to severe diarrhea. MESH:D017196 C01.610.335.508.700.700.799 C01.610.335.508.700.700 Anguilluliases|Anguilluliasis|Strongyloidiases Parasitic disease Strudwick syndrome MESH:C537501 OMIM:184250 MESH:D010009 C05.116.099.708/C537501|C16.320.728/C537501 C05.116.099.708|C16.320.728 Dappled metaphysis syndrome|Sed Strudwick|SEMDC|Semd, Strudwick Type|SEMDSTWK|SMD|Smed, Strudwick Type|Smed, Type I|Spondyloepimetaphyseal dysplasia, Strudwick type|Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type|Spondylometaphyseal Dysplasia|Spondylometaphyseal Dysplasia (Smd)|STRUDWICK SYNDROME Genetic disease (inborn)|Musculoskeletal disease Struma Ovarii MESH:D013330 DO:DOID:2640 A rare teratoid tumor of the ovary composed almost entirely of thyroid tissue, with large follicles containing abundant colloid. Occasionally there are symptoms of hyperthyroidism. 5-10% of struma ovarii become malignant, the only absolute criterion for which is the presence of metastasis. (Dorland, 27th ed; Segen, Dictionary of Modern Medicine, 1992) MESH:D013724 C04.557.465.910.850 C04.557.465.910 Cancer Stupor MESH:D053608 A state of reduced sensibility and response to stimuli which is distinguished from COMA in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. It can be induced by CENTRAL NERVOUS SYSTEM AGENTS. The word derives from Latin stupere and is related to stunned, stupid, dazed or LETHARGY. MESH:D014474 C10.597.606.358.800.500|C23.888.592.604.359.800.500 C10.597.606.358.800|C23.888.592.604.359.800 Narcosis Nervous system disease|Signs and symptoms Sturge-Weber Syndrome MESH:D013341 DO:DOID:0111563|OMIM:185300 A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects. MESH:D000798|MESH:D006391|MESH:D020752 C04.557.645.375.850|C10.562.800|C14.907.077.850 C04.557.645.375|C10.562|C14.907.077 Angiomatosis, Meningo-Oculo-Facial|Angiomatosis Oculoorbital-Thalamic Syndrome|Encephalofacial Hemangiomatosis Syndrome|Hemangiomatosis Syndrome, Encephalofacial|Meningofacial Angiomatosis-Cerebral Calcification Syndrome|Meningo Oculo Facial Angiomatosis|Meningo-Oculo-Facial Angiomatosis|Neuroretinoangiomatosis|Parkes Weber Syndrome|Parkes-Weber Syndrome|Phakomatosis, Sturge Weber|Phakomatosis, Sturge-Weber|Sturge Disease|Sturge Kalischer Weber Syndrome|Sturge-Kalischer-Weber Syndrome|Sturge's Syndrome|Sturge Syndrome|Sturge Weber Dimitri Syndrome|Sturge-Weber-Dimitri Syndrome|Sturge Weber Krabbe Syndrome|Sturge-Weber-Krabbe Syndrome|Sturge-Weber Phakomatosis|Sturge Weber Syndrome|SWS|Syndrome, Encephalofacial Hemangiomatosis|Syndrome, Parkes Weber|Syndrome, Parkes-Weber|Syndrome, Sturge|Syndrome, Sturge-Kalischer-Weber|Syndrome, Sturge's|Syndrome, Sturge-Weber|Syndrome, Sturge-Weber-Dimitri|Syndrome, Sturge-Weber-Krabbe Cancer|Cardiovascular disease|Nervous system disease Stuttering MESH:D013342 DO:DOID:0060243 A disturbance in the normal fluency and time patterning of speech that is inappropriate for the individual's age. This disturbance is characterized by frequent repetitions or prolongations of sounds or syllables. Various other types of speech dysfluencies may also be involved including interjections, broken words, audible or silent blocking, circumlocutions, words produced with an excess of physical tension, and monosyllabic whole word repetitions. Stuttering may occur as a developmental condition in childhood or as an acquired disorder which may be associated with BRAIN INFARCTIONS and other BRAIN DISEASES. (From DSM-IV, 1994) MESH:D013064 C10.597.606.150.500.800.750|C23.888.592.604.150.500.800.750 C10.597.606.150.500.800|C23.888.592.604.150.500.800 Acquired Stuttering|Adult Stuttering|Childhood Stuttering|Developmental Stuttering|Stammering|Stuttering, Acquired|Stuttering, Adult|Stuttering, Childhood|Stuttering, Developmental|Stuttering, Familial Persistent 1 Nervous system disease|Signs and symptoms STUTTERING, FAMILIAL PERSISTENT, 1 OMIM:184450 DO:DOID:0060243 MESH:D013342 C10.597.606.150.500.800.750/184450|C23.888.592.604.150.500.800.750/184450 C10.597.606.150.500.800.750|C23.888.592.604.150.500.800.750 STAMMERING|STUT1 Nervous system disease|Signs and symptoms Stuttering, Familial Persistent 2 MESH:C563756 OMIM:609261 MESH:D013342 C10.597.606.150.500.800.750/C563756|C23.888.592.604.150.500.800.750/C563756 C10.597.606.150.500.800.750|C23.888.592.604.150.500.800.750 STUT2|STUTTERING, FAMILIAL PERSISTENT, 2 Nervous system disease|Signs and symptoms Stuve-Wiedemann syndrome MESH:C537502 OMIM:601559 MESH:D005097|MESH:D010009 C04.557.450.565.575.610.615.325/C537502|C04.700.330/C537502|C05.116.099.708.670.615.325/C537502|C05.116.099.708/C537502|C05.116.540.310.500/C537502|C16.320.700.330/C537502|C16.320.728/C537502 C04.557.450.565.575.610.615.325|C04.700.330|C05.116.099.708|C05.116.099.708.670.615.325|C05.116.540.310.500|C16.320.700.330|C16.320.728 Schwartz Jampel syndrome neonatal|Schwartz-Jampel Syndrome, Neonatal|Schwartz-Jampel Syndrome, Type 2|Schwartz Jampel type 2 syndrome|SJS2|Stuve-Wiedemann-Schwartz-Jampel type 2 syndrome|STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME|STUVE-WIEDEMANN SYNDROME 1|STWS|STWS1|SWS Cancer|Genetic disease (inborn)|Musculoskeletal disease Subacute Combined Degeneration MESH:D052879 A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA. MESH:D003711|MESH:D009410|MESH:D013118|MESH:D014806|MESH:D019636 C10.228.854.811|C10.314.875|C10.574.910|C18.654.521.500.133.699.923.640|C23.550.737.625 C10.228.854|C10.314|C10.574|C18.654.521.500.133.699.923|C23.550.737 Neuropathy, Subacute Combined Degeneration|Subacute Combined Neuropathy Degeneration Nervous system disease|Nutrition disorder|Pathology (process) Subacute Sclerosing Panencephalitis MESH:D013344 DO:DOID:8970 A rare, slowly progressive encephalitis caused by chronic infection with the MEASLES VIRUS. The condition occurs primarily in children and young adults, approximately 2-8 years after the initial infection. A gradual decline in intellectual abilities and behavioral alterations are followed by progressive MYOCLONUS; MUSCLE SPASTICITY; SEIZURES; DEMENTIA; autonomic dysfunction; and ATAXIA. DEATH usually occurs 1-3 years after disease onset. Pathologic features include perivascular cuffing, eosinophilic cytoplasmic inclusions, neurophagia, and fibrous gliosis. It is caused by the SSPE virus, which is a defective variant of MEASLES VIRUS. (From Adams et al., Principles of Neurology, 6th ed, pp767-8) MESH:D008457|MESH:D012897|MESH:D018792 C01.207.245.340.600|C01.207.399.750.600|C01.925.182.525.600|C01.925.782.580.600.500.500.800|C01.925.839.862|C10.228.140.430.520.750.600|C10.228.228.245.340.600|C10.228.228.399.750.600|C10.586.250.520.750.600 C01.207.245.340|C01.207.399.750|C01.925.182.525|C01.925.782.580.600.500.500|C01.925.839|C10.228.140.430.520.750|C10.228.228.245.340|C10.228.228.399.750|C10.586.250.520.750 Encephalitis, Inclusion Body, Measles|Inclusion Body Encephalitis, Measles|Leukoencephalitides, Subacute Sclerosing|Leukoencephalitis, Subacute Sclerosing|Leukoencephalitis, Van Bogaert|Leukoencephalitis, Van Bogaert's|Leukoencephalitis, Van Bogaerts|Measles Inclusion Body Encephalitis|Panencephalitides, Subacute Sclerosing|Panencephalitis, Subacute Sclerosing|Sclerosing Leukoencephalitides, Subacute|Sclerosing Leukoencephalitis, Subacute|Sclerosing Panencephalitides, Subacute|Sclerosing Panencephalitis, Subacute|SSPE|Subacute Sclerosing Leukoencephalitides|Subacute Sclerosing Leukoencephalitis|Subacute Sclerosing Panencephalitides|Van Bogaert Leukoencephalitis|Van Bogaert's Leukoencephalitis|Van Bogaerts Leukoencephalitis Nervous system disease|Viral disease Subaortic Stenosis, Membranous MESH:C564793 MESH:D006330|MESH:D021922 C14.240.400/C564793|C14.280.400/C564793|C14.280.484.048.750.070.210/C564793|C14.280.955.249.070.210/C564793|C16.131.240.400/C564793 C14.240.400|C14.280.400|C14.280.484.048.750.070.210|C14.280.955.249.070.210|C16.131.240.400 Cardiovascular disease|Congenital abnormality Subarachnoid Hemorrhage MESH:D013345 Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status. MESH:D020300 C10.228.140.300.535.800|C14.907.253.573.800|C23.550.414.913.850 C10.228.140.300.535|C14.907.253.573|C23.550.414.913 Aneurysmal Subarachnoid Hemorrhage|Aneurysmal Subarachnoid Hemorrhages|Hemorrhage, Aneurysmal Subarachnoid|Hemorrhage, Intracranial Subarachnoid|Hemorrhage, Perinatal Subarachnoid|Hemorrhages, Aneurysmal Subarachnoid|Hemorrhages, Intracranial Subarachnoid|Hemorrhages, Perinatal Subarachnoid|Hemorrhage, Spontaneous Subarachnoid|Hemorrhages, Spontaneous Subarachnoid|Hemorrhages, Subarachnoid|Hemorrhage, Subarachnoid|Intracranial Subarachnoid Hemorrhage|Intracranial Subarachnoid Hemorrhages|Perinatal Subarachnoid Hemorrhage|Perinatal Subarachnoid Hemorrhages|SAHs (Subarachnoid Hemorrhage)|SAH (Subarachnoid Hemorrhage)|Spontaneous Subarachnoid Hemorrhage|Spontaneous Subarachnoid Hemorrhages|Subarachnoid Hemorrhage, Aneurysmal|Subarachnoid Hemorrhage, Intracranial|Subarachnoid Hemorrhage, Perinatal|Subarachnoid Hemorrhages|Subarachnoid Hemorrhages, Aneurysmal|Subarachnoid Hemorrhages, Intracranial|Subarachnoid Hemorrhages, Perinatal|Subarachnoid Hemorrhage, Spontaneous|Subarachnoid Hemorrhages, Spontaneous Cardiovascular disease|Nervous system disease|Pathology (process) Subarachnoid Hemorrhage, Traumatic MESH:D020206 Bleeding into the SUBARACHNOID SPACE due to CRANIOCEREBRAL TRAUMA. Minor hemorrhages may be asymptomatic; moderate to severe hemorrhages may be associated with INTRACRANIAL HYPERTENSION and VASOSPASM, INTRACRANIAL. MESH:D013345|MESH:D020198|MESH:D020214 C10.228.140.300.535.450.650|C10.228.140.300.535.800.700|C10.900.300.837.800|C14.907.253.535.600|C14.907.253.573.400.700|C14.907.253.573.800.700|C26.915.300.490.700 C10.228.140.300.535.450|C10.228.140.300.535.800|C10.900.300.837|C14.907.253.535|C14.907.253.573.400|C14.907.253.573.800|C26.915.300.490 Hemorrhage, Post-Traumatic Subarachnoid|Hemorrhages, Post-Traumatic Subarachnoid|Hemorrhage, Traumatic Subarachnoid|Post Traumatic Subarachnoid Hemorrhage|Post-Traumatic Subarachnoid Hemorrhage|Post-Traumatic Subarachnoid Hemorrhages|Subarachnoid Hemorrhage, Post-Traumatic|Subarachnoid Hemorrhages, Post-Traumatic|Subarachnoid Hemorrhages, Traumatic|Traumatic Subarachnoid Hemorrhage|Traumatic Subarachnoid Hemorrhages Cardiovascular disease|Nervous system disease|Wounds and injuries Subclavian Steal Syndrome MESH:D013349 DO:DOID:13002 A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8) MESH:D014715 C10.228.140.300.150.956.700|C14.907.253.092.956.700 C10.228.140.300.150.956|C14.907.253.092.956 Artery Stenoses, Subclavian|Artery Stenosis, Subclavian|Basilar Steal Syndrome|Basilar Steal Syndromes|Brachial Basilar Insufficiency Syndrome|Brachial-Basilar Insufficiency Syndrome|Brachial-Basilar Insufficiency Syndromes|Insufficiency Syndrome, Brachial-Basilar|Insufficiency Syndromes, Brachial-Basilar|Phenomenon, Subclavian Steal|Steal Phenomenon, Subclavian|Steal, Subclavian|Steal Syndrome, Basilar|Steal Syndromes, Basilar|Steal Syndromes, Subclavian|Steal Syndrome, Subclavian|Stenoses, Subclavian Artery|Stenosis, Subclavian Artery|Subclavian Artery Stenoses|Subclavian Artery Stenosis|Subclavian Carotid Artery Steal Syndrome|Subclavian-Carotid Artery Steal Syndrome|Subclavian Steal|Subclavian Steal Phenomenon|Subclavian Steal Syndromes|Syndrome, Brachial-Basilar Insufficiency|Syndromes, Brachial-Basilar Insufficiency Cardiovascular disease|Nervous system disease Subcortical Band Heterotopia, X-Linked MESH:C564722 MESH:D054221 C10.500.507.450.230/C564722|C10.500.507.450.499.230/C564722|C16.131.666.507.450.230/C564722|C16.131.666.507.450.499.230/C564722|C16.320.322.500.186/C564722 C10.500.507.450.230|C10.500.507.450.499.230|C16.131.666.507.450.230|C16.131.666.507.450.499.230|C16.320.322.500.186 Congenital abnormality|Genetic disease (inborn)|Nervous system disease Subcutaneous Emphysema MESH:D013352 Presence of air or gas in the subcutaneous tissues of the body. MESH:D004646 C23.550.325.500 C23.550.325 Emphysemas, Subcutaneous|Emphysema, Subcutaneous|Subcutaneous Emphysemas Pathology (process) Subcutaneous panniculitis-like T-cell lymphoma MESH:C537503 MESH:D015434|MESH:D016399 C04.557.386.480.750/C537503|C15.604.515.569.480.750/C537503|C17.300.710/C537503|C17.800.566/C537503|C20.683.515.761.480.750/C537503 C04.557.386.480.750|C15.604.515.569.480.750|C17.300.710|C17.800.566|C20.683.515.761.480.750 Cancer|Connective tissue disease|Immune system disease|Lymphatic disease|Skin disease Subdural Effusion MESH:D013353 Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions. MESH:D001927|MESH:D020819 C01.207.709.675|C10.228.140.870|C10.228.228.709.675 C01.207.709|C10.228.140|C10.228.228.709 Cerebrospinal Fluid Effusion, Subdural|Cerebrospinal Fluid Leakage, Subdural|Effusion, Subdural|Hygroma, Subdural|Subdural Cerebrospinal Fluid Effusion|Subdural Cerebrospinal Fluid Leakage|Subdural Hygroma Nervous system disease Sublingual Gland Neoplasms MESH:D013362 Neoplasms of the sublingual glands. MESH:D012468 C04.588.443.591.824.882|C07.465.530.824.882|C07.465.815.718.870 C04.588.443.591.824|C07.465.530.824|C07.465.815.718 Gland Neoplasms, Sublingual|Gland Neoplasm, Sublingual|Neoplasms, Sublingual Gland|Neoplasm, Sublingual Gland|Sublingual Gland Neoplasm Cancer|Mouth disease Submacular Cysticercosis MESH:C531662 MESH:D003551 C01.610.335.190.902.185/C531662 C01.610.335.190.902.185 Parasitic disease Submandibular Gland Diseases MESH:D013364 DO:DOID:12897 Diseases involving the SUBMANDIBULAR GLAND. MESH:D012466 C07.465.815.882 C07.465.815 Diseases, Submandibular Gland|Disease, Submandibular Gland|Gland Diseases, Submandibular|Gland Disease, Submandibular|Submandibular Gland Disease Mouth disease Submandibular Gland Neoplasms MESH:D013365 New abnormal growth of tissue in the SUBMANDIBULAR GLAND. MESH:D012468|MESH:D013364 C04.588.443.591.824.885|C07.465.530.824.885|C07.465.815.718.885|C07.465.815.882.500 C04.588.443.591.824|C07.465.530.824|C07.465.815.718|C07.465.815.882 Gland Neoplasms, Submandibular|Gland Neoplasm, Submandibular|Neoplasms, Submandibular Gland|Neoplasm, Submandibular Gland|Submandibular Gland Neoplasm Cancer|Mouth disease Subphrenic Abscess MESH:D013369 Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections. MESH:D010538|MESH:D018784 C01.463.600.500|C01.830.025.020.810|C06.844.640.500 C01.463.600|C01.830.025.020|C06.844.640 Abscesses, Subdiaphragmatic|Abscesses, Subphrenic|Abscess, Subdiaphragmatic|Abscess, Subphrenic|Subdiaphragmatic Abscess|Subdiaphragmatic Abscesses|Subphrenic Abscesses Digestive system disease Substance Abuse, Intravenous MESH:D015819 Abuse, overuse, or misuse of a substance by its injection into a vein. MESH:D019966 C25.775.793|F03.900.793 C25.775|F03.900 Drug Abuse, Intravenous|Drug Abuse, Parenteral|Intravenous Drug Abuse|Intravenous Substance Abuse|Parenteral Drug Abuse Mental disorder|Substance-related disorder Substance Abuse, Oral MESH:D000075067 Abuse, overuse, or misuse of a substance by ingestion. MESH:D019966 C25.775.814|F03.900.809 C25.775|F03.900 Abuse, Oral Substance|Bombing, Drug|Drug Bombing|Drug Parachuting|Oral Substance Abuse|Parachuting, Drug|Substance Abuses, Oral Mental disorder|Substance-related disorder Substance-Related Disorders MESH:D019966 DO:DOID:302|DO:DOID:303|OMIM:606581 Disorders related to substance use or abuse. MESH:D001523|MESH:D064419 C25.775|F03.900 C25|F03 Abuse, Drug|Abuse, Prescription Drug|Abuse, Substance|Addiction, Drug|Addiction, Substance|Chemical Dependence|Chemical Dependences|Dependence, Chemical|Dependence, Drug|Dependences, Chemical|Dependence, Substance|Disorder, Drug Use|Disorders, Substance Related|Disorder, Substance Related|Disorder, Substance Use|Drug Abuse|Drug Abuse, Prescription|Drug Addiction|DRUG ADDICTION, SUSCEPTIBILITY TO|Drug Dependence|Drug Habituation|Drug Use Disorder|Drug Use Disorders|Habituation, Drug|Organic Mental Disorders, Substance Induced|Organic Mental Disorders, Substance-Induced|POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO|Prescription Drug Abuse|PSAB|Related Disorders, Substance|Related Disorder, Substance|Substance Abuse|Substance Abuses|Substance Addiction|Substance Dependence|Substance Related Disorder|Substance Use|Substance Use Disorder|Substance Use Disorders|Substance Uses|Use, Substance Mental disorder|Substance-related disorder Substance Withdrawal Syndrome MESH:D013375 Physiological and psychological symptoms associated with withdrawal from the use of a drug after prolonged administration or habituation. The concept includes withdrawal from smoking or drinking, as well as withdrawal from an administered drug. MESH:D019966 C25.775.835|F03.900.825 C25.775|F03.900 Drug Withdrawal Symptom|Drug Withdrawal Symptoms|Substance Withdrawal Syndromes|Symptom, Drug Withdrawal|Symptoms, Drug Withdrawal|Symptoms, Withdrawal|Symptom, Withdrawal|Syndromes, Substance Withdrawal|Syndrome, Substance Withdrawal|Withdrawal Symptom|Withdrawal Symptom, Drug|Withdrawal Symptoms|Withdrawal Symptoms, Drug|Withdrawal Syndromes, Substance|Withdrawal Syndrome, Substance Mental disorder|Substance-related disorder Subungual exostoses MESH:C535723 MESH:D001859|MESH:D005096|MESH:D009260 C04.588.149/C535723|C05.116.231/C535723|C05.116.540.310/C535723|C17.800.529/C535723 C04.588.149|C05.116.231|C05.116.540.310|C17.800.529 Dupuytren subungual exostosis|Exostosis, Dupuytren Subungual Cancer|Musculoskeletal disease|Skin disease Subvalvular aortic stenosis, Eisenberg type MESH:C538550 MESH:D001020 C14.280.484.048.750.070/C538550|C14.280.955.249.070/C538550 C14.280.484.048.750.070|C14.280.955.249.070 Cardiovascular disease Succinate-Coa Ligase Deficiency MESH:C580473 DO:DOID:0080124|DO:DOID:0080128 MESH:D028361 C18.452.660/C580473 C18.452.660 Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria|Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria|Succinate-Coenzyme A Ligase Deficiency Metabolic disease Succinic Acidemia MESH:C563952 MESH:D008661 C16.320.565/C563952|C18.452.648/C563952 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease succinic semialdehyde dehydrogenase deficiency MESH:C535803 DO:DOID:0060175|OMIM:271980 MESH:D000592|MESH:D002658 C16.320.565.100/C535803|C18.452.648.100/C535803|F03.625.421/C535803 C16.320.565.100|C18.452.648.100|F03.625.421 4-hydroxybutyric aciduria|4-Hydroxybutyricaciduria|GABA METABOLIC DEFECT|Gamma-Hydroxybutyric Acidemia|Gamma-Hydroxybutyric Aciduria|SSADHD|SSADH Deficiency Genetic disease (inborn)|Mental disorder|Metabolic disease Succinyl-CoA:3-oxoacid CoA transferase deficiency MESH:C537527 OMIM:245050 MESH:D000138 C18.452.076.176/C537527 C18.452.076.176 3-Oxoacid Coa Transferase Deficiency|Ketoacidosis due to SCOT deficiency|SCOTD|SCOT deficiency|Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency|Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency|SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY|Succinyl-Coa 3-Oxoacid Transferase Deficiency|Succinyl-Coa:Acetoacetate Transferase Deficiency Metabolic disease Sucrase-isomaltase deficiency, congenital MESH:C538139 DO:DOID:0111633|OMIM:222900 MESH:D002239 C16.320.565.202/C538139|C18.452.648.202/C538139 C16.320.565.202|C18.452.648.202 Congenital Sucrase-Isomaltase Deficiency|Congenital Sucrose Intolerance|Congenital sucrose-isomaltase malabsorption|Congenital Sucrose-Isomaltose Malabsorption|CSID|Disaccharide intolerance, 1|Disaccharide Intolerance I|Si Deficiency|Sucrase-Isomaltase Deficiency|Sucrose intolerance congenital|Sucrose Intolerance, Congenital|Sucrose-isomaltase malabsorption, congenital|Sucrose-Isomaltose Malabsorption, Congenital Genetic disease (inborn)|Metabolic disease Sucrosuria, Hiatus Hernia and Mental Retardation MESH:C564792 MESH:D006551|MESH:D008607 C10.597.606.360/C564792|C23.300.707.960.500.467/C564792|C23.888.592.604.646/C564792|F03.625.539/C564792 C10.597.606.360|C23.300.707.960.500.467|C23.888.592.604.646|F03.625.539 Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED OMIM:617223 MESH:D016757|MESH:D020751 C14.280.383.220/617223|C23.550.260.322.250/617223|C25.775.100.087/617223 C14.280.383.220|C23.550.260.322.250|C25.775.100.087 SCFAI Cardiovascular disease|Pathology (process)|Substance-related disorder SUDDEN CARDIAC FAILURE, INFANTILE OMIM:617222 MESH:D016757 C14.280.383.220/617222|C23.550.260.322.250/617222 C14.280.383.220|C23.550.260.322.250 SCFI Cardiovascular disease|Pathology (process) Sudden Infant Death MESH:D013398 DO:DOID:9007|OMIM:272120 The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84) MESH:D003645|MESH:D066088 C23.550.260.322.625|C23.550.260.657.500 C23.550.260.322|C23.550.260.657 Cot Death|Cot Deaths|Crib Death|Death, Cot|Death, Crib|Death, Sudden Infant|Infant Death, Sudden|SID|SIDS|Sudden Infant Death Syndrome Pathology (process) Sudden Infant Death with Dysgenesis of the Testes Syndrome MESH:C563856 OMIM:608800 MESH:D013398 C23.550.260.322.625/C563856|C23.550.260.657.500/C563856 C23.550.260.322.625|C23.550.260.657.500 SIDDT Pathology (process) Sudden Unexpected Death in Epilepsy MESH:D000080485 Sudden death in a patient with EPILEPSY associated with SEIZURES and seizure-related symptoms (e.g., APNEA; HYPOXEMIA) without other identifiable accidental causes (e.g., DROWNING; WOUNDS AND INJURIES). MESH:D003645|MESH:D004827 C10.228.140.490.746|C23.550.260.322.812 C10.228.140.490|C23.550.260.322 SUDEP Nervous system disease|Pathology (process) Sudden unexpected nocturnal death syndrome MESH:C531638 MESH:D053840 C14.280.067.322/C531638|C14.280.123.250/C531638|C16.320.100/C531638 C14.280.067.322|C14.280.123.250|C16.320.100 Cardiovascular disease|Genetic disease (inborn) Sulfatidosis MESH:D052516 A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-containing lipids (SULFATIDES), including SULFOGLYCOSPHINGOLIPIDS normally found in the MYELIN SHEATH of the brain. These disorders are caused by defective degradative enzymes leading to substrate accumulation (or storage). MESH:D013106 C10.228.140.163.100.435.825.850|C16.320.565.189.435.825.850|C16.320.565.398.641.803.925|C16.320.565.595.554.825.850|C18.452.132.100.435.825.850|C18.452.584.563.641.803.925|C18.452.648.189.435.825.850|C18.452.648.398.641.803.925|C18.452.648.595.554.825.850 C10.228.140.163.100.435.825|C16.320.565.189.435.825|C16.320.565.398.641.803|C16.320.565.595.554.825|C18.452.132.100.435.825|C18.452.584.563.641.803|C18.452.648.189.435.825|C18.452.648.398.641.803|C18.452.648.595.554.825 Sulfatidoses Genetic disease (inborn)|Metabolic disease|Nervous system disease Sulfhemoglobinemia MESH:D013436 DO:DOID:12451 A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed) MESH:D006402 C15.378.896 C15.378 Sulfhemoglobinemias Blood disease Sulfhemoglobinemia, Congenital MESH:C566102 MESH:D013436 C15.378.896/C566102 C15.378.896 Blood disease Sulfite oxidase deficiency MESH:C538141 DO:DOID:0111270|OMIM:272300 MESH:D000592 C16.320.565.100/C538141|C18.452.648.100/C538141 C16.320.565.100|C18.452.648.100 ISOD|SULFITE OXIDASE DEFICIENCY, ISOLATED|Sulfocysteinuria Genetic disease (inborn)|Metabolic disease Summitt syndrome MESH:C538142 MESH:D000168 C05.116.099.370.894.232.015/C538142|C05.116.099.370.894.819.100/C538142|C05.660.207.240.100/C538142|C05.660.585.800.100/C538142|C05.660.906.364.100/C538142|C05.660.906.819.100/C538142|C16.131.621.207.240.100/C538142|C16.131.621.585.800.100/C538142|C16.131.621.906.364.100/C538142|C16.131.621.906.819.100/C538142 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.660.207.240.100|C05.660.585.800.100|C05.660.906.364.100|C05.660.906.819.100|C16.131.621.207.240.100|C16.131.621.585.800.100|C16.131.621.906.364.100|C16.131.621.906.819.100 Recessive acrocephalosyndactyly with normal intelligence|Summitt's acrocephalosyndactyly Congenital abnormality|Musculoskeletal disease Sunburn MESH:D013471 An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight. MESH:D002056|MESH:D010787 C17.800.600.725|C26.200.855 C17.800.600|C26.200 Sunburns Skin disease|Wounds and injuries SUNCT Syndrome MESH:D050798 A primary headache disorder that is characterized by frequent short-lasting, unilateral, neuralgiform pain attacks in the ocular area, with CONJUNCTIVA fluid-filling and tearing. SUNCT syndrome is usually resistant to treatment. MESH:D051303 C10.228.140.546.399.937.875 C10.228.140.546.399.937 SUNCT Syndromes|Syndromes, SUNCT|Syndrome, SUNCT Nervous system disease Sunstroke MESH:D013474 Heat stroke caused by exposure to the sun. It is characterized by dangerously high BODY TEMPERATURE; red, hot skin; DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly. MESH:D018883 C26.522.500.500 C26.522.500 Sun Stroke|Sunstrokes|Sun Strokes Wounds and injuries Superinfection MESH:D015163 A frequent complication of drug therapy for microbial infection. It may result from opportunistic colonization following immunosuppression by the primary pathogen and can be influenced by the time interval between infections, microbial physiology, or host resistance. Experimental challenge and in vitro models are sometimes used in virulence and infectivity studies. MESH:D009894 C01.597.880 C01.597 Microbial Superinvasion|Microbial Superinvasions|Superinfections|Superinvasion, Microbial|Superinvasions, Microbial Superior Mesenteric Artery Syndrome MESH:D013478 DO:DOID:3557 DUODENAL OBSTRUCTION by the superior mesenteric artery (MESENTERIC ARTERY, SUPERIOR) which travels in the root of the MESENTERY and crosses over the DUODENUM. The syndrome is characterized by the dilated proximal duodenum and STOMACH, bloating, ABDOMINAL CRAMPS, and VOMITING. Often it is observed in patient with body casts after spinal surgery. MESH:D004380 C06.405.469.275.395.890 C06.405.469.275.395 Cast Syndrome|Duodenal Compression Syndrome, Mesenteric|Mesenteric Duodenal Compression Syndrome|Syndrome, Cast|Syndrome, Wilkie|Wilkie Syndrome Digestive system disease Superior Transverse Scapular Ligament, Calcification Of, Familial MESH:C566638 MESH:D009408|MESH:D009999 C10.668.829.550/C566638|C23.550.751/C566638 C10.668.829.550|C23.550.751 Nervous system disease|Pathology (process) Superior Vena Cava Syndrome MESH:D013479 A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms which is called Pemberton's sign. Classification of SVC obstruction is often based on COLLATERAL CIRCULATION. MESH:D014652 C14.907.800 C14.907 Obstruction of the Superior Vena Cava|Obstruction, SVC|Superior Vena Cava Obstruction|Superior Vena Cava Thrombosis|SVC Obstruction|SVC Obstructions|SVC Syndrome|SVC Syndromes|SVC Thromboses|SVC Thrombosis|Syndrome, SVC|Thrombosis, SVC Cardiovascular disease SUPERNUMERARY DER(22)t(8 OMIM:613700 MESH:D004427|MESH:D008607|MESH:D014178 C09.218/613700|C10.597.606.360/613700|C23.550.210.870/613700|C23.888.592.604.646/613700|F03.625.539/613700 C09.218|C10.597.606.360|C23.550.210.870|C23.888.592.604.646|F03.625.539 22) SYNDROME Ear-nose-throat disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms SUPPRESSOR OF TUMORIGENICITY 3 OMIM:191181 MESH:D002583 C04.588.945.418.948.850/191181|C12.050.351.500.852.593.131/191181|C12.050.351.500.852.762.850/191181|C12.050.351.937.418.875.850/191181|C12.100.250.852.593.131/191181|C12.100.250.852.762.850/191181|C12.900.418.875.850/191181 C04.588.945.418.948.850|C12.050.351.500.852.593.131|C12.050.351.500.852.762.850|C12.050.351.937.418.875.850|C12.100.250.852.593.131|C12.100.250.852.762.850|C12.900.418.875.850 CCTS|CERVICAL CARCINOMA, TUMOR-SUPPRESSOR GENE INVOLVED IN|ST3|TSHL|TUMOR-SUPPRESSOR GENE, HELA CELL TYPE Cancer|Urogenital disease (female) Suppuration MESH:D013492 A pathologic process consisting in the formation of pus. MESH:D007239|MESH:D007249 C01.830|C23.550.470.756 C01|C23.550.470 Pus Pathology (process) Supraglottitis MESH:D059525 Inflammation of the EPIGLOTTIS and supraglottic structures including the PHARYNX; UVULA; base of tongue; and aryepiglottic folds. It is usually caused by HAEMOPHILUS INFLUENZAE in children but often by different organisms in adults. MESH:D007818|MESH:D012141 C01.748.798|C08.360.840|C08.730.798|C09.400.840 C01.748|C08.360|C08.730|C09.400 Supraglottitides Ear-nose-throat disease|Respiratory tract disease Supranuclear Palsy, Progressive MESH:D013494 DO:DOID:678|OMIM:601104 A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7) MESH:D001480|MESH:D009069|MESH:D009886|MESH:D024801 C10.228.140.079.882|C10.228.662.700|C10.292.562.750.500|C10.574.945.500|C10.597.622.447.690|C11.590.472.500|C23.888.592.636.447.690 C10.228.140.079|C10.228.662|C10.292.562.750|C10.574.945|C10.597.622.447|C11.590.472|C23.888.592.636.447 Ophthalmoplegia, Progressive Supranuclear|Palsy, Progressive Supranuclear|Progressive Supranuclear Ophthalmoplegia|Progressive Supranuclear Palsies|Progressive Supranuclear Palsy|Progressive Supranuclear Palsy 1|PSNP1|PSP|Richardson's Syndrome|Richardson Syndrome|Steele Richardson Olszewski Disease|Steele-Richardson-Olszewski Disease|Steele Richardson Olszewski Syndrome|Steele-Richardson-Olszewski Syndrome|Supranuclear Ophthalmoplegia, Progressive|Supranuclear Palsies, Progressive|Supranuclear Palsy, Progressive, 1 Eye disease|Nervous system disease|Signs and symptoms Supranuclear Palsy, Progressive, 2 MESH:C563717 OMIM:609454 MESH:D013494 C10.228.140.079.882/C563717|C10.228.662.700/C563717|C10.292.562.750.500/C563717|C10.574.945.500/C563717|C10.597.622.447.690/C563717|C11.590.472.500/C563717|C23.888.592.636.447.690/C563717 C10.228.140.079.882|C10.228.662.700|C10.292.562.750.500|C10.574.945.500|C10.597.622.447.690|C11.590.472.500|C23.888.592.636.447.690 PSNP2 Eye disease|Nervous system disease|Signs and symptoms Supranuclear Palsy, Progressive, 3 MESH:C567050 OMIM:610898 MESH:D013494 C10.228.140.079.882/C567050|C10.228.662.700/C567050|C10.292.562.750.500/C567050|C10.574.945.500/C567050|C10.597.622.447.690/C567050|C11.590.472.500/C567050|C23.888.592.636.447.690/C567050 C10.228.140.079.882|C10.228.662.700|C10.292.562.750.500|C10.574.945.500|C10.597.622.447.690|C11.590.472.500|C23.888.592.636.447.690 PSNP3 Eye disease|Nervous system disease|Signs and symptoms Supratentorial Neoplasms MESH:D015173 DO:DOID:1659 Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and BRAIN STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation. MESH:D001932 C04.588.614.250.195.885|C10.228.140.211.885|C10.551.240.250.700 C04.588.614.250.195|C10.228.140.211|C10.551.240.250 Benign Supratentorial Neoplasm|Benign Supratentorial Neoplasms|Cancers, Supratentorial|Cancer, Supratentorial|Malignant Supratentorial Neoplasm|Malignant Supratentorial Neoplasms|Neoplasm, Benign Supratentorial|Neoplasm, Malignant Supratentorial|Neoplasm, Primary Supratentorial|Neoplasms, Benign Supratentorial|Neoplasms, Malignant Supratentorial|Neoplasms, Primary Supratentorial|Neoplasms, Supratentorial|Neoplasm, Supratentorial|Primary Supratentorial Neoplasm|Primary Supratentorial Neoplasms|Supratentorial Cancer|Supratentorial Cancers|Supratentorial Neoplasm|Supratentorial Neoplasm, Benign|Supratentorial Neoplasm, Malignant|Supratentorial Neoplasm, Primary|Supratentorial Neoplasms, Benign|Supratentorial Neoplasms, Malignant|Supratentorial Neoplasms, Primary|Supratentorial Tumor|Supratentorial Tumors|Tumors, Supratentorial|Tumor, Supratentorial Cancer|Nervous system disease Supraumbilical midabdominal raphe and facial cavernous hemangiomas MESH:C538144 MESH:D005153|MESH:D006392 C04.557.645.375.385/C538144|C04.588.443.392/C538144|C14.907.454.385/C538144|C15.378.463.515.385/C538144 C04.557.645.375.385|C04.588.443.392|C14.907.454.385|C15.378.463.515.385 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe|Hemangiomas cavernous of face supraumbilical midline raphe|Raphe, supraumbilical midline, with cavernous facial hemangiomas|Sternal nonunion with supraumbilical raphe Blood disease|Cancer|Cardiovascular disease Supravalvar aortic stenosis, eisenberg type MESH:C538461 MESH:D021921 C14.280.484.048.750.535/C538461|C14.280.955.249.535/C538461 C14.280.484.048.750.535|C14.280.955.249.535 Cardiovascular disease Surfactant Dysfunction MESH:C580477 MESH:D017563 C08.381.483/C580477 C08.381.483 Interstitial Lung Disease Due To Surfactant Deficiency|Pulmonary Surfactant Metabolism Dysfunction|Surfactant Metabolism Deficiency Respiratory tract disease Surfactant Metabolism Dysfunction, Pulmonary, 1 MESH:C566882 OMIM:265120 MESH:D011649|MESH:D017563 C08.381.483/C566882|C08.381.719/C566882 C08.381.483|C08.381.719 Interstitial Lung Disease Due To Surfactant Protein B Deficiency|Interstitial Lung Disease, Nonspecific, Due To Surfactant Protein B Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 1|SMDP1 Respiratory tract disease Surfactant Metabolism Dysfunction, Pulmonary, 2 MESH:C567048 OMIM:610913 MESH:D011649|MESH:D017563 C08.381.483/C567048|C08.381.719/C567048 C08.381.483|C08.381.719 Desquamative Interstitial Pneumonitis Due To Surfactant Protein C Deficiency|Interstitial Lung Disease Due To Surfactant Protein C Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 2|SMDP2 Respiratory tract disease Surfactant Metabolism Dysfunction, Pulmonary, 3 MESH:C567046 OMIM:610921 MESH:D011649|MESH:D017563 C08.381.483/C567046|C08.381.719/C567046 C08.381.483|C08.381.719 Interstitial Lung Disease Due To ABCA3 Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 3|SMDP3 Respiratory tract disease Surfactant Metabolism Dysfunction, Pulmonary, 4 MESH:C567461 OMIM:300770 MESH:D011649|MESH:D040181 C08.381.719/C567461|C16.320.322/C567461 C08.381.719|C16.320.322 CSF2RA Deficiency|PAP due to CSF2RA Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 4|SMDP4 Genetic disease (inborn)|Respiratory tract disease SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 OMIM:614370 DO:DOID:12120 MESH:D011649 C08.381.719/614370 C08.381.719 CSF2RB DEFICIENCY|PAP DUE TO CSF2RB DEFICIENCY|PULMONARY ALVEOLAR PROTEINOSIS 5|SMDP5 Respiratory tract disease Surgical Wound MESH:D000072836 An incision made during a surgical procedure. MESH:D014947 C26.859 C26 Incisions, Surgical|Incision, Surgical|Surgical Incision|Surgical Incisions|Surgical Wounds|Wounds, Surgical|Wound, Surgical Wounds and injuries Surgical Wound Dehiscence MESH:D013529 Pathologic process consisting of a partial or complete disruption of the layers of a surgical wound. MESH:D011183 C23.550.767.887 C23.550.767 Dehiscence, Surgical Wound|Wound Dehiscence, Surgical Pathology (process) Surgical Wound Infection MESH:D013530 Infection occurring at the site of a surgical incision. MESH:D011183|MESH:D014946 C01.947.692|C23.550.767.925 C01.947|C23.550.767 Infection, Postoperative Wound|Infections, Postoperative Wound|Infections, Surgical Site|Infections, Surgical Wound|Infection, Surgical Site|Infection, Surgical Wound|Postoperative Wound Infection|Postoperative Wound Infections|Surgical Site Infection|Surgical Site Infections|Surgical Wound Infections|Wound Infection, Postoperative|Wound Infections, Postoperative|Wound Infections, Surgical|Wound Infection, Surgical Pathology (process) Susac Syndrome MESH:D055955 A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss. MESH:D002561|MESH:D004427|MESH:D005132|MESH:D009461|MESH:D014786|MESH:D015356 C09.218.855|C10.228.140.300.787|C10.597.825|C11.768.400.500|C11.966.858|C14.907.137.780.500|C23.888.307.750|C23.888.592.848 C09.218|C10.228.140.300|C10.597|C11.768.400|C11.966|C14.907.137.780|C23.888.307|C23.888.592 Retinocochleocerebral Vasculopathies|Retinocochleocerebral Vasculopathy|Susac's Syndrome|Susacs Syndrome|Syndrome, Susac|Syndrome, Susac's|Vasculopathies, Retinocochleocerebral|Vasculopathy, Retinocochleocerebral Cardiovascular disease|Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms Sutton disease 2 MESH:C538145 MESH:D013281 C07.465.864.750/C538145 C07.465.864.750 Aphthous Stomatitis, Recurrent|Aphthous Ulcer, Recurrent|Major Aphthous Ulcer|Major Canker Sore|Recurrent Scarring Aphthae Mouth disease Sveinsson Chorioretinal Atrophy MESH:C566236 DO:DOID:0111228|OMIM:108985 MESH:D003317|MESH:D012162 C11.204.236/C566236|C11.270.162/C566236|C11.270.612/C566236|C11.768.585/C566236|C16.320.290.162/C566236 C11.204.236|C11.270.162|C11.270.612|C11.768.585|C16.320.290.162 AA|Atrophia Areata|Helicoidal Peripapillary Chorioretinal Degeneration|HPCD|Peripapillary Chorioretinal Degeneration, Icelandic Type|SCRA Eye disease|Genetic disease (inborn) Swayback MESH:D013540 DO:DOID:5112 Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed) MESH:D003677|MESH:D012757 C18.654.521.500.857|C22.836.886 C18.654.521.500|C22.836 Ataxia, Enzootic|Ataxias, Enzootic|Enzootic Ataxia|Enzootic Ataxias Animal disease|Nutrition disorder Sweat Gland Diseases MESH:D013543 DO:DOID:1383 Diseases of the SWEAT GLANDS. MESH:D012871 C17.800.946 C17.800 Diseases, Sweat Gland|Disease, Sweat Gland|Sweat Gland Disease Skin disease Sweat Gland Neoplasms MESH:D013544 DO:DOID:2664 New abnormal growth of tissue in the SWEAT GLANDS. MESH:D012878|MESH:D013543 C04.588.805.776|C17.800.882.743|C17.800.946.743 C04.588.805|C17.800.882|C17.800.946 Neoplasms, Sweat Gland|Neoplasm, Sweat Gland|Sweat Gland Neoplasm Cancer|Skin disease Sweating, Gustatory MESH:D013547 DO:DOID:11599 An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5) MESH:D001342|MESH:D006945 C10.177.825|C17.800.946.350.843 C10.177|C17.800.946.350 Auriculotemporal Nerve Syndrome|Auriculotemporal Syndrome|Baillarger Syndrome|Frey's Syndrome|Frey Syndrome|Gustatory Hyperhidroses|Gustatory Hyperhidrosis|Gustatory Sweating|Hyperhidroses, Gustatory|Hyperhidrosis, Gustatory|Salivosudoriparous Syndrome|Salivosudoriparous Syndromes|Syndrome, Auriculotemporal|Syndrome, Baillarger|Syndrome, Frey|Syndrome, Frey's|Syndrome, Salivosudoriparous|Syndromes, Salivosudoriparous|Syndrome, von Frey|Syndrome, von Frey's|von Frey's Syndrome|von Freys Syndrome|von Frey Syndrome Nervous system disease|Skin disease Sweating Sickness MESH:D018614 A clinical condition characterized by fever and profuse sweating and associated with high mortality. It occurred in epidemic form five times in the fifteenth and sixteenth centuries in England, first in 1485 and last in 1551, specially during the summer and early autumn, attacking the relatively affluent adult male population. The etiology was unknown. MESH:D005334 C23.888.119.344.672 C23.888.119.344 English Sweating Sickness|Sickness, Sweating|Sudor Anglicus Signs and symptoms Sweet Syndrome MESH:D016463 DO:DOID:0080746 Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA. MESH:D004890 C17.800.229.800 C17.800.229 Acute Febrile Neutrophilic Dermatosis|Dermatosis, Neutrophilic, Febrile, Acute|Disease, Gomm Button|Disease, Gomm-Button|Gomm Button Disease|Gomm-Button Disease|Neutrophilic Dermatosis, Acute Febrile|Sweet's Syndrome|Sweets Syndrome|Syndrome, Sweet|Syndrome, Sweet's Skin disease Swine Diseases MESH:D013553 Diseases of domestic swine and of the wild boar of the genus Sus. MESH:D000820 C22.905 C22 Diseases, Swine|Disease, Swine|Swine Disease Animal disease Swine Erysipelas MESH:D013554 An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa. MESH:D004889|MESH:D013553 C01.150.252.410.334.776|C22.331.693|C22.905.832 C01.150.252.410.334|C22.331|C22.905 Animal disease|Bacterial infection or mycosis Swine Vesicular Disease MESH:D013555 An enterovirus infection of swine clinically indistinguishable from FOOT-AND-MOUTH DISEASE, vesicular stomatitis, and VESICULAR EXANTHEMA OF SWINE. It is caused by a strain of HUMAN ENTEROVIRUS B. MESH:D004769|MESH:D013553 C01.925.782.687.359.855|C22.905.850 C01.925.782.687.359|C22.905 Swine Vesicular Diseases|Vesicular Diseases, Swine|Vesicular Disease, Swine Animal disease|Viral disease Symmastia MESH:C538147 MESH:D001941 C17.800.090/C538147 C17.800.090 Medial confluence of the breasts Skin disease Symphalangism, C. S. Lewis Type MESH:C566100 MESH:D006228 C05.390.408/C566100|C05.660.585.988.425/C566100|C16.131.621.585.988.500/C566100 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Thumbs, Stiff Congenital abnormality|Musculoskeletal disease Symphalangism, Distal MESH:C566099 MESH:D000844|MESH:D005532|MESH:D006228 C05.330.495/C566099|C05.390.408/C566099|C05.550.069/C566099|C05.660.585.512.380/C566099|C05.660.585.988.425/C566099|C16.131.621.585.512.500/C566099|C16.131.621.585.988.500/C566099 C05.330.495|C05.390.408|C05.550.069|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500 Congenital abnormality|Musculoskeletal disease Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch MESH:C538148 MESH:D003784 C07.793.237.252/C538148 C07.793.237.252 Distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch Mouth disease Symphalangism of Toes MESH:C566101 MESH:D000844|MESH:D013580 C05.116.099.370.894/C566101|C05.550.069/C566101|C05.660.906/C566101|C16.131.621.906/C566101 C05.116.099.370.894|C05.550.069|C05.660.906|C16.131.621.906 Congenital abnormality|Musculoskeletal disease SYMPHALANGISM, PROXIMAL, 1B OMIM:615298 DO:DOID:0080788 MESH:D006228 C05.390.408/615298|C05.660.585.988.425/615298|C16.131.621.585.988.500/615298 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 SYM1B Congenital abnormality|Musculoskeletal disease Symphalangism with Multiple Anomalies of Hands and Feet MESH:C566098 MESH:D005532|MESH:D006228|MESH:D013580 C05.116.099.370.894/C566098|C05.330.495/C566098|C05.390.408/C566098|C05.660.585.512.380/C566098|C05.660.585.988.425/C566098|C05.660.906/C566098|C16.131.621.585.512.500/C566098|C16.131.621.585.988.500/C566098|C16.131.621.906/C566098 C05.116.099.370.894|C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C05.660.906|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.131.621.906 Congenital abnormality|Musculoskeletal disease Symptom Flare Up MESH:D000067251 A transient exacerbation of symptoms of an existing disease or condition. MESH:D012008 C23.550.291.937.500 C23.550.291.937 Acute Symptom Flare|Acute Symptom Flares|Exacerbation, Symptom|Exaggeration, Symptom|Flare-ups, Symptom|Flareups, Symptom|Flare Ups, Symptom|Flare-up, Symptom|Flareup, Symptom|Flare Up, Symptom|Flaring Up, Symptom|Increase, Symptom|Magnification, Symptom|Symptom Exacerbation|Symptom Exacerbations|Symptom Exaggeration|Symptom Exaggerations|Symptom Flare, Acute|Symptom Flare-up|Symptom Flareup|Symptom Flare-ups|Symptom Flareups|Symptom Flare Ups|Symptom Flaring Up|Symptom Increase|Symptom Magnification|Symptom Magnifications|Symptom Worsening|Worsening, Symptom Pathology (process) Syncope MESH:D013575 A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9) MESH:D014474 C10.597.606.358.800.600|C23.888.592.604.359.800.600 C10.597.606.358.800|C23.888.592.604.359.800 Attack, Drop|Cardiogenic Syncope|Cardiogenic Syncopes|Carotid Sinus Syncope|Carotid Sinus Syncopes|Convulsive Syncope|Convulsive Syncopes|Deglutitional Syncope|Deglutitional Syncopes|Drop Attack|Drop Attacks|Effort Syncope|Effort Syncopes|Episode, Syncopal|Fainting|Hyperventilation Syncope|Hyperventilation Syncopes|Micturition Syncope|Micturition Syncopes|Postural Syncope|Postural Syncopes|Presyncope|Presyncopes|Situational Syncope|Situational Syncopes|Stokes-Adams Syncope|Stokes-Adams Syncopes|Syncopal Episode|Syncopal Episodes|Syncopal Vertigo|Syncope, Cardiogenic|Syncope, Carotid Sinus|Syncope, Convulsive|Syncope, Deglutitional|Syncope, Effort|Syncope, Hyperventilation|Syncope, Micturition|Syncope, Postural|Syncopes|Syncopes, Cardiogenic|Syncopes, Carotid Sinus|Syncopes, Convulsive|Syncopes, Deglutitional|Syncopes, Effort|Syncopes, Hyperventilation|Syncope, Situational|Syncopes, Micturition|Syncopes, Postural|Syncopes, Situational|Syncopes, Stokes-Adams|Syncope, Stokes Adams|Syncope, Stokes-Adams|Syncopes, Tussive|Syncope, Tussive|Tussive Syncope|Tussive Syncopes|Vertigos, Syncopal|Vertigo, Syncopal Nervous system disease|Signs and symptoms Syncope, Vasovagal MESH:D019462 Loss of consciousness due to a reduction in blood pressure that is associated with an increase in vagal tone and peripheral vasodilation. MESH:D013575|MESH:D054971 C10.177.575.600.800|C10.597.606.358.800.600.500|C23.888.592.604.359.800.600.500 C10.177.575.600|C10.597.606.358.800.600|C23.888.592.604.359.800.600 Cerebral Syncope|Cerebral Syncopes|Faint, Neurally Mediated|Faints, Neurally Mediated|Malignant Neurocardiogenic Syncope|Malignant Neurocardiogenic Syncopes|Neurally Mediated Faint|Neurally Mediated Faints|Neurocardiogenic Syncope|Neurocardiogenic Syncope, Malignant|Neurocardiogenic Syncopes|Neurocardiogenic Syncopes, Malignant|Neurogenic Syncope|Neurogenic Syncopes|Supine Syncope|Supine Syncopes|Syncope, Cerebral|Syncope, Malignant Neurocardiogenic|Syncope, Neurocardiogenic|Syncope, Neurogenic|Syncopes, Cerebral|Syncopes, Malignant Neurocardiogenic|Syncopes, Neurocardiogenic|Syncopes, Neurogenic|Syncopes, Supine|Syncope, Supine|Syncopes, Vasodepressor|Syncopes, Vasovagal|Syncope, Vasodepressor|Syncope, Vasovagal, Neurally-Mediated|Vasodepressor Syncope|Vasodepressor Syncopes|Vasovagal Syncope|Vasovagal Syncopes Nervous system disease|Signs and symptoms Syndactyly MESH:D013576 DO:DOID:11193|OMIM:186000 A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements. MESH:D013580|MESH:D017880 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 C05.116.099.370.894|C05.660.585|C05.660.906|C16.131.621.585|C16.131.621.906 Polysyndactyly|SDTY2|SPD1|Syndactylia|Syndactylias|Syndactylies|SYNDACTYLY, TYPE II|SYNPOLYDACTYLY 1 Congenital abnormality|Musculoskeletal disease Syndactyly Cenani Lenz type MESH:C538150 OMIM:212780 MESH:D013576 C05.116.099.370.894.819/C538150|C05.660.585.800/C538150|C05.660.906.819/C538150|C16.131.621.585.800/C538150|C16.131.621.906.819/C538150 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 Cenani-Lenz Syndactyly|CENANI-LENZ SYNDACTYLY SYNDROME|Cenani-Lenz type syndactyly|Cenani syndactylism|CLSS|Syndactyly type 7|Syndactyly, Type VII Congenital abnormality|Musculoskeletal disease Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction MESH:C563721 OMIM:609432 MESH:D013576 C05.116.099.370.894.819/C563721|C05.660.585.800/C563721|C05.660.906.819/C563721|C16.131.621.585.800/C563721|C16.131.621.906.819/C563721 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 MSSD|Syndactyly, Malik-Percin Type|Syndactyly, Type IX Congenital abnormality|Musculoskeletal disease Syndactyly-Polydactyly-Earlobe Syndrome MESH:C566091 MESH:D013576|MESH:D017689 C05.116.099.370.894.819/C566091|C05.660.585.600/C566091|C05.660.585.800/C566091|C05.660.906.819/C566091|C16.131.621.585.600/C566091|C16.131.621.585.800/C566091|C16.131.621.906.819/C566091 C05.116.099.370.894.819|C05.660.585.600|C05.660.585.800|C05.660.906.819|C16.131.621.585.600|C16.131.621.585.800|C16.131.621.906.819 Congenital abnormality|Musculoskeletal disease Syndactyly, type 2 MESH:C538153 DO:DOID:0060242 MESH:D013576 C05.116.099.370.894.819/C538153|C05.660.585.800/C538153|C05.660.906.819/C538153|C16.131.621.585.800/C538153|C16.131.621.906.819/C538153 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 Syndactyly, Type II|Synpolydactyly|Synpolydactyly 1 Congenital abnormality|Musculoskeletal disease Syndactyly, type 3 MESH:C538154 DO:DOID:0111817|OMIM:186100 MESH:D013576 C05.116.099.370.894.819/C538154|C05.660.585.800/C538154|C05.660.906.819/C538154|C16.131.621.585.800/C538154|C16.131.621.906.819/C538154 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 Familial syndactyly type 3|Ring and little finger syndactyly|SDTY3|Syndactyly of fingers four and five|Syndactyly Of Fingers IV and V|Syndactyly of the ring and little finger|Syndactyly, Type III Congenital abnormality|Musculoskeletal disease Syndactyly, Type I MESH:C566096 OMIM:185900 MESH:D013576 C05.116.099.370.894.819/C566096|C05.660.585.800/C566096|C05.660.906.819/C566096|C16.131.621.585.800/C566096|C16.131.621.906.819/C566096 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 CHROMOSOME 2q35 DUPLICATION SYNDROME|SD1|SDTY1|SYNDACTYLY, TYPE I|Zygodactyly|ZYGODACTYLY CRANIOSYNOSTOSIS, PHILADELPHIA TYPE, INCLUDED Congenital abnormality|Musculoskeletal disease Syndactyly, Type IV MESH:C566092 DO:DOID:0111818|OMIM:186200 MESH:D013576|MESH:D017689 C05.116.099.370.894.819/C566092|C05.660.585.600/C566092|C05.660.585.800/C566092|C05.660.906.819/C566092|C16.131.621.585.600/C566092|C16.131.621.585.800/C566092|C16.131.621.906.819/C566092 C05.116.099.370.894.819|C05.660.585.600|C05.660.585.800|C05.660.906.819|C16.131.621.585.600|C16.131.621.585.800|C16.131.621.906.819 Haas Type Syndactyly|Polysyndactyly, Haas Type|SD4|SDTY4 Congenital abnormality|Musculoskeletal disease Syndactyly, type v MESH:C538155 DO:DOID:0111819|OMIM:186300 MESH:D013576 C05.116.099.370.894.819/C538155|C05.660.585.800/C538155|C05.660.906.819/C538155|C16.131.621.585.800/C538155|C16.131.621.906.819/C538155 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 SDTY5|Syndactyly type 5|Syndactyly with metacarpal and metatarsal fusion Congenital abnormality|Musculoskeletal disease Syndrome MESH:D013577 DO:DOID:225 A characteristic symptom complex. MESH:D004194 C23.550.288.500 C23.550.288 Clusters, Symptom|Cluster, Symptom|Symptom Cluster|Symptom Clusters|Syndromes Pathology (process) Synesthesia MESH:D000080311 OMIM:612759 The experience of involuntary sensory cross activation where the presentation of a particular stimulus elicits a secondary sensory-perceptual experience. It most commonly occurs in the association of color with linguistic stimuli such as letters, numbers, words, or music, but can also occur between other senses. Although synesthesia can be acquired or transient due to trauma or drug use, there is also a strong genetic component, with a prevalence of about 1 in 2,000 individuals and a female to male ratio of 6:1. MESH:D010468 C10.597.606.762.850 C10.597.606.762 Chromesthesia|Chromesthesias|Colored Hearing Synesthesia|Colored Hearing Synesthesias|Grapheme Color Synesthesia|Grapheme-Color Synesthesia|Grapheme-Color Synesthesias|Hearing Synesthesia, Colored|Hearing Synesthesias, Colored|Ideaesthesia|Ideaesthesias|Ideasthesia|Ideasthesias|Lexical Gustatory Synesthesia|Lexical-Gustatory Synesthesia|Lexical-Gustatory Synesthesias|Synesthesia, Colored Hearing|Synesthesia, Grapheme-Color|Synesthesia, Lexical-Gustatory|Synesthesias|Synesthesias, Colored Hearing|Synesthesias, Grapheme-Color|Synesthesias, Lexical-Gustatory|SYNSTH Nervous system disease Synkinesis MESH:D046608 An involuntary movement accompanying a volitional movement. It often refers to facial movements that accompany FACIAL PARALYSIS. MESH:D020820 C10.597.350.675|C23.888.592.350.675 C10.597.350|C23.888.592.350 Synkineses Nervous system disease|Signs and symptoms Synostoses, tarsal, carpal, and digital MESH:C538156 MESH:D013580 C05.116.099.370.894/C538156|C05.660.906/C538156|C16.131.621.906/C538156 C05.116.099.370.894|C05.660.906|C16.131.621.906 Calcaneonavicular coalition Congenital abnormality|Musculoskeletal disease Synostosis MESH:D013580 DO:DOID:11971 A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed) MESH:D004413|MESH:D009139 C05.116.099.370.894|C05.660.906|C16.131.621.906 C05.116.099.370|C05.660|C16.131.621 Synostoses Congenital abnormality|Musculoskeletal disease Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly MESH:C566090 OMIM:186550 MESH:D006228|MESH:D013580|MESH:D059327 C05.116.099.370.894/C566090|C05.390.408/C566090|C05.660.585.262/C566090|C05.660.585.988.425/C566090|C05.660.906/C566090|C16.131.621.585.262/C566090|C16.131.621.585.988.500/C566090|C16.131.621.906/C566090 C05.116.099.370.894|C05.390.408|C05.660.585.262|C05.660.585.988.425|C05.660.906|C16.131.621.585.262|C16.131.621.585.988.500|C16.131.621.906 Brachydactyly with Joint Dysplasia|LBNBG|Liebenberg Syndrome|SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY Congenital abnormality|Musculoskeletal disease Synostosis of Talus and Calcaneus with Short Stature MESH:C566089 MESH:D006130|MESH:D013580 C05.116.099.370.894/C566089|C05.660.906/C566089|C16.131.621.906/C566089|C23.550.393/C566089 C05.116.099.370.894|C05.660.906|C16.131.621.906|C23.550.393 Congenital abnormality|Musculoskeletal disease|Pathology (process) Synovial Chondromatosis, Familial, with Dwarfism MESH:C566087 MESH:D004392|MESH:D015838 C05.116.099.343/C566087|C05.550.287/C566087|C16.320.240/C566087|C19.297/C566087 C05.116.099.343|C05.550.287|C16.320.240|C19.297 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Synovial Cyst MESH:D013581 Non-neoplastic tumor-like lesions at joints, developed from the SYNOVIAL MEMBRANE of a joint through the JOINT CAPSULE into the periarticular tissues. They are filled with SYNOVIAL FLUID with a smooth and translucent appearance. A synovial cyst can develop from any joint, but most commonly at the back of the knee, where it is known as POPLITEAL CYST. MESH:D003560 C04.182.867 C04.182 Cysts, Synovial|Cyst, Synovial|Synovial Cysts Cancer Synovitis MESH:D013585 DO:DOID:12225|DO:DOID:2703 Inflammation of the SYNOVIAL MEMBRANE. MESH:D007592 C05.550.870 C05.550 Hypertrophies, Synovial|Hypertrophy, Synovial|Plica Syndrome|Plica Syndrome, Synovial|Synovial Hypertrophies|Synovial Hypertrophy|Synovial Plica Syndrome|Synovial Thickening|Synovial Thickenings|Synovitides|Thickenings, Synovial|Thickening, Synovial Musculoskeletal disease Synovitis, Pigmented Villonodular MESH:D013586 DO:DOID:2702 Diffuse outgrowth arising from the SYNOVIAL MEMBRANE; SYNOVIAL BURSA; or TENDON sheath around the joint cavity, with extension to surrounding soft tissue. It is characterized by pigmented HEMOSIDERIN-containing MACROPHAGES; FOAM CELLS; and multinucleated GIANT CELLS. It usually occurs in the hands and feet, and around large joints, such as in the ankle and knee joints. MESH:D000070779 C04.557.450.565.380.690.500|C05.550.870.445.500|C05.651.869.762.500 C04.557.450.565.380.690|C05.550.870.445|C05.651.869.762 Diffuse Tenosynovial Giant Cell Tumor|Pigmented Villonodular Synovitides|Pigmented Villonodular Synovitis|Synovitides, Pigmented Villonodular|Villonodular Synovitides, Pigmented|Villonodular Synovitis, Pigmented Cancer|Musculoskeletal disease Synpolydactyly 2 MESH:C564278 OMIM:608180 MESH:D005532|MESH:D006228|MESH:D017689 C05.330.495/C564278|C05.390.408/C564278|C05.660.585.512.380/C564278|C05.660.585.600/C564278|C05.660.585.988.425/C564278|C16.131.621.585.512.500/C564278|C16.131.621.585.600/C564278|C16.131.621.585.988.500/C564278 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.600|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.600|C16.131.621.585.988.500 SPD2|Synpolydactyly, 3, 3-Prime, 4, associated with metacarpal and metatarsal synostoses|SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES Congenital abnormality|Musculoskeletal disease Synpolydactyly 3 MESH:C565216 OMIM:610234 MESH:D017689 C05.660.585.600/C565216|C16.131.621.585.600/C565216 C05.660.585.600|C16.131.621.585.600 SPD3 Congenital abnormality|Musculoskeletal disease Synpolydactyly With Foot Anomalies MESH:C566095 MESH:D005532|MESH:D017689 C05.330.495/C566095|C05.660.585.512.380/C566095|C05.660.585.600/C566095|C16.131.621.585.512.500/C566095|C16.131.621.585.600/C566095 C05.330.495|C05.660.585.512.380|C05.660.585.600|C16.131.621.585.512.500|C16.131.621.585.600 Congenital abnormality|Musculoskeletal disease Synucleinopathies MESH:D000080874 Neurodegenerative disorders involving deposition of abnormal ALPHA-SYNUCLEIN in dopaminergic neurons and glial cells in the brain. Pathological aggregations of alpha-synuclein proteins results in LEWY BODIES and Lewy neurites; melanin granules in the SUBSTANTIA NIGRA and LOCUS COERULEUS; and glial cytoplasmic inclusions. Synucleinopathies are associated with mutation in the ALPHA-SYNUCLEIN (SNCA) gene on chromosome 4. PARKINSON DISEASE; LEWY BODY DISEASE with dementia; and MULTIPLE SYSTEM ATROPHY are prominent examples of synucleinopathy. MESH:D019636|MESH:D057165 C10.574.928|C18.452.845.650 C10.574|C18.452.845 alpha Synucleinopathies|alpha-Synucleinopathies|alpha-Synucleinopathy|alpha Synuclein Pathologies|alpha Synuclein Pathology|a-Synucleinopathies|a-Synucleinopathy|Synucleinopathy Metabolic disease|Nervous system disease Syphilis MESH:D013587 A contagious venereal disease caused by the spirochete TREPONEMA PALLIDUM. MESH:D014211|MESH:D015231 C01.150.252.400.794.840.500|C01.150.252.400.840.500|C01.150.252.734.859|C01.221.812.281.859|C01.778.281.859|C12.100.937.281.859 C01.150.252.400.794.840|C01.150.252.400.840|C01.150.252.734|C01.221.812.281|C01.778.281|C12.100.937.281 Great Pox Bacterial infection or mycosis Syphilis, Cardiovascular MESH:D013589 Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM. MESH:D013587|MESH:D053821 C01.150.252.400.794.840.500.875|C01.150.252.400.840.500.875|C01.190.500|C14.260.500 C01.150.252.400.794.840.500|C01.150.252.400.840.500|C01.190|C14.260 Aortitides, Syphilitic|Aortitis, Syphilitic|Cardiovascular Syphilis|Syphilitic Aortitides|Syphilitic Aortitis Bacterial infection or mycosis|Cardiovascular disease Syphilis, Congenital MESH:D013590 DO:DOID:9856 Syphilis acquired in utero and manifested by any of several characteristic tooth (Hutchinson's teeth) or bone malformations and by active mucocutaneous syphilis at birth or shortly thereafter. Ocular and neurologic changes may also occur. MESH:D007232|MESH:D013587 C01.150.252.400.794.840.500.937|C01.150.252.400.840.500.937|C16.614.868 C01.150.252.400.794.840.500|C01.150.252.400.840.500|C16.614 Congenital Syphilis|Hutchinson's Teeth|Hutchinsons Teeth|Hutchinson Teeth|Teeth, Hutchinson's Bacterial infection or mycosis|Infant-newborn disease Syphilis, Cutaneous MESH:D013591 Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409) MESH:D013587|MESH:D017192 C01.150.252.400.794.840.500.968|C01.150.252.400.840.500.968|C01.150.252.819.790|C01.800.720.790|C17.800.838.765.790 C01.150.252.400.794.840.500|C01.150.252.400.840.500|C01.150.252.819|C01.800.720|C17.800.838.765 Cutaneous Syphilis|Skin Syphilis|Syphilid|Syphilids|Syphilis, Skin Bacterial infection or mycosis|Skin disease Syphilis, Latent MESH:D013592 DO:DOID:9531 The stage of syphilis that occurs following the primary (CHANCRE) and secondary stages. The patient is asymptomatic at the latent stage but remains seropositive for the SPIROCHETE. MESH:D000085343|MESH:D013587 C01.150.252.400.794.840.500.984|C01.150.252.400.840.500.984|C01.550.750 C01.150.252.400.794.840.500|C01.150.252.400.840.500|C01.550 Latent Stage Syphilis|Syphilis, Latent Stage Bacterial infection or mycosis Syphilis, primary MESH:C536772 MESH:D013587 C01.150.252.400.794.840.500/C536772|C01.150.252.400.840.500/C536772|C01.150.252.734.859/C536772|C01.221.812.281.859/C536772|C01.778.281.859/C536772|C12.100.937.281.859/C536772 C01.150.252.400.794.840.500|C01.150.252.400.840.500|C01.150.252.734.859|C01.221.812.281.859|C01.778.281.859|C12.100.937.281.859 Primary syphilis Bacterial infection or mycosis Syphilis, secondary MESH:C536773 DO:DOID:4157 MESH:D013587 C01.150.252.400.794.840.500/C536773|C01.150.252.400.840.500/C536773|C01.150.252.734.859/C536773|C01.221.812.281.859/C536773|C01.778.281.859/C536773|C12.100.937.281.859/C536773 C01.150.252.400.794.840.500|C01.150.252.400.840.500|C01.150.252.734.859|C01.221.812.281.859|C01.778.281.859|C12.100.937.281.859 Secondary syphilis Bacterial infection or mycosis Syphilis, tertiary MESH:C536774 DO:DOID:8200 MESH:D013587 C01.150.252.400.794.840.500/C536774|C01.150.252.400.840.500/C536774|C01.150.252.734.859/C536774|C01.221.812.281.859/C536774|C01.778.281.859/C536774|C12.100.937.281.859/C536774 C01.150.252.400.794.840.500|C01.150.252.400.840.500|C01.150.252.734.859|C01.221.812.281.859|C01.778.281.859|C12.100.937.281.859 Late syphilis|Tertiary syphilis Bacterial infection or mycosis Syphilitic aseptic meningitis MESH:C536775 DO:DOID:10073 MESH:D009494 C01.150.252.223.600/C536775|C01.150.252.400.794.840.500.750/C536775|C01.150.252.400.840.500.750/C536775|C01.207.180.600/C536775|C10.228.228.180.600/C536775 C01.150.252.223.600|C01.150.252.400.794.840.500.750|C01.150.252.400.840.500.750|C01.207.180.600|C10.228.228.180.600 Meningeal syphilis|Meningitis, syphilitic|Syphilitic meningitis Bacterial infection or mycosis|Nervous system disease Syphilitic myelopathy (tabes dorsalis) MESH:C536776 MESH:D013606 C01.150.252.223.600.800/C536776|C01.150.252.400.794.840.500.750.800/C536776|C01.150.252.400.840.500.750.800/C536776|C01.207.180.600.800/C536776|C10.228.228.180.600.800/C536776|C10.228.854.889/C536776 C01.150.252.223.600.800|C01.150.252.400.794.840.500.750.800|C01.150.252.400.840.500.750.800|C01.207.180.600.800|C10.228.228.180.600.800|C10.228.854.889 Bacterial infection or mycosis|Nervous system disease Syringoma MESH:D018252 DO:DOID:2065 A benign tumor of the sweat glands which is usually multiple and results from malformation of sweat ducts. It is uncommon and more common in females than in males. It is most likely to appear at adolescence, and further lesions may develop during adult life. It does not appear to be hereditary. (Rook et al., Textbook of Dermatology, 4th ed, pp2407-8) MESH:D006607 C04.557.470.035.175.800|C04.557.470.550.175.800 C04.557.470.035.175|C04.557.470.550.175 Syringomas Cancer Syringomas, Multiple MESH:C566085 MESH:D018252 C04.557.470.035.175.800/C566085|C04.557.470.550.175.800/C566085 C04.557.470.035.175.800|C04.557.470.550.175.800 Cancer Syringomyelia MESH:D013595 DO:DOID:327 Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269) MESH:D013118 C10.228.854.833 C10.228.854 Hydrosyringomyelia|Hydrosyringomyelias|Morvan Disease|Morvan Diseases|Morvan's Disease|Morvans Disease|Morvan's Diseases|Myelosyringoses|Myelosyringosis|Syringomyelias|Syringomyelus Nervous system disease Syringomyelia, Isolated MESH:C566084 MESH:D013595 C10.228.854.833/C566084 C10.228.854.833 Nervous system disease Systemic candidiasis MESH:C536777 MESH:D002177 C01.150.703.160/C536777 C01.150.703.160 Systemic candida infections Bacterial infection or mycosis Systemic carnitine deficiency MESH:C536778 DO:DOID:14365|OMIM:212140 MESH:D009135|MESH:D009202|MESH:D022124 C05.651/C536778|C10.668.491/C536778|C14.280.238/C536778|C23.550.421/C536778 C05.651|C10.668.491|C14.280.238|C23.550.421 Carnitine deficiency, primary|Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine|Carnitine deficiency, systemic primary|Carnitine Transporter Deficiency|Carnitine transporter, plasma-membrane, deficiency of|Carnitine uptake defect|Carnitine Uptake Deficiency|CDSP|CUD|Primary Carnitine Deficiency|Renal Carnitine Transport Defect|SCD|SYSTEMIC CARNITINE DEFICIENCY Cardiovascular disease|Musculoskeletal disease|Nervous system disease|Pathology (process) Systemic Inflammatory Response Syndrome MESH:D018746 A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA <36 degrees C; (2) TACHYCARDIA >90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS. MESH:D007249|MESH:D012769 C23.550.470.790|C23.550.835.900 C23.550.470|C23.550.835 Inflammatory Response Syndrome, Systemic|Sepsis Syndrome|Sepsis Syndromes|Syndrome, Sepsis|Syndromes, Sepsis Pathology (process) SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1 OMIM:607279 MESH:D000743|MESH:D008180 C15.378.071.141/607279|C17.300.480/607279|C20.111.590/607279 C15.378.071.141|C17.300.480|C20.111.590 SLEH1|SYSTEMIC LUPUS ERYTHEMATOSUS, HEMOLYTIC ANEMIA-RELATED Blood disease|Connective tissue disease|Immune system disease SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1 OMIM:607965 MESH:D008180|MESH:D009393 C12.050.351.968.419.570/607965|C12.200.777.419.570/607965|C12.950.419.570/607965|C17.300.480/607965|C20.111.590/607965 C12.050.351.968.419.570|C12.200.777.419.570|C12.950.419.570|C17.300.480|C20.111.590 SLEN1 Connective tissue disease|Immune system disease|Urogenital disease (female)|Urogenital disease (male) SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2 OMIM:607966 MESH:D008180|MESH:D009393 C12.050.351.968.419.570/607966|C12.200.777.419.570/607966|C12.950.419.570/607966|C17.300.480/607966|C20.111.590/607966 C12.050.351.968.419.570|C12.200.777.419.570|C12.950.419.570|C17.300.480|C20.111.590 SLEN2 Connective tissue disease|Immune system disease|Urogenital disease (female)|Urogenital disease (male) SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3 OMIM:607967 MESH:D008180|MESH:D009393 C12.050.351.968.419.570/607967|C12.200.777.419.570/607967|C12.950.419.570/607967|C17.300.480/607967|C20.111.590/607967 C12.050.351.968.419.570|C12.200.777.419.570|C12.950.419.570|C17.300.480|C20.111.590 SLEN3 Connective tissue disease|Immune system disease|Urogenital disease (female)|Urogenital disease (male) Systemic necrotizing angiitis MESH:C536779 MESH:D010488 C14.907.940.090.720/C536779|C14.907.940.897.500/C536779|C17.800.862.625/C536779 C14.907.940.090.720|C14.907.940.897.500|C17.800.862.625 Systemic necrotizing angitis Cardiovascular disease|Skin disease Systemic Vasculitis MESH:D056647 A heterogeneous group of diseases characterized by inflammation and necrosis of the blood vessel walls. MESH:D014657 C14.907.940.897 C14.907.940 Systemic Vasculitides|Vasculitides, Systemic|Vasculitis, Systemic Cardiovascular disease Systolic Murmurs MESH:D054160 Heart murmurs which are systolic in timing. They occur between the first and the second HEART SOUNDS, between the closure of MITRAL VALVE and TRICUSPID VALVE and the closure of semilunar aortic and pulmonary valves. Systolic murmurs include ejection murmurs and regurgitant murmurs. MESH:D006337 C23.888.447.500 C23.888.447 Ejection Murmur|Ejection Murmurs|Murmur, Ejection|Murmurs, Ejection|Murmurs, Systolic|Murmurs, Systolic Regurgitant|Murmur, Systolic|Murmur, Systolic Regurgitant|Regurgitant Murmurs, Systolic|Regurgitant Murmur, Systolic|Systolic Murmur|Systolic Regurgitant Murmur|Systolic Regurgitant Murmurs Signs and symptoms Tabatznik syndrome MESH:C536784 MESH:D006228|MESH:D006330 C05.390.408/C536784|C05.660.585.988.425/C536784|C14.240.400/C536784|C14.280.400/C536784|C16.131.240.400/C536784|C16.131.621.585.988.500/C536784 C05.390.408|C05.660.585.988.425|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.585.988.500 Heart-hand syndrome 2 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease Tabes Dorsalis MESH:D013606 DO:DOID:10027 Parenchymatous NEUROSYPHILIS marked by slowly progressive degeneration of the posterior columns, posterior roots, and ganglia of the spinal cord. The condition tends to present 15 to 20 years after the initial infection and is characterized by lightening-like pains in the lower extremities, URINARY INCONTINENCE; ATAXIA; severely impaired position and vibratory sense, abnormal gait (see GAIT DISORDERS, NEUROLOGIC), OPTIC ATROPHY; Argyll-Robertson pupils, hypotonia, hyperreflexia, and trophic joint degeneration (Charcot's Joint; see ARTHROPATHY, NEUROGENIC). (From Adams et al., Principles of Neurology, 6th ed, p726) MESH:D009494|MESH:D013118 C01.150.252.223.600.800|C01.150.252.400.794.840.500.750.800|C01.150.252.400.840.500.750.800|C01.207.180.600.800|C10.228.228.180.600.800|C10.228.854.889 C01.150.252.223.600|C01.150.252.400.794.840.500.750|C01.150.252.400.840.500.750|C01.207.180.600|C10.228.228.180.600|C10.228.854 Ataxia, Locomotor|Ataxias, Locomotor|Locomotor Ataxia|Locomotor Ataxias|Meningomyelitides, Syphilitic|Meningomyelitis, Syphilitic|Meningovascular Syphilis, Spinal|Myelosyphilis|Neurosyphilis, Tabetic|Spinal Cord Syphilis|Spinalis, Tabes|Spinal Meningovascular Syphilis|Syphilis, Spinal Cord|Syphilis, Spinal Meningovascular|Syphilitic Meningomyelitides|Syphilitic Meningomyelitis|Tabes Spinalis|Tabetic Neurosyphilis Bacterial infection or mycosis|Nervous system disease Tachycardia MESH:D013610 Abnormally rapid heartbeat, usually with a HEART RATE above 100 beats per minute for adults. Tachycardia accompanied by disturbance in the cardiac depolarization (cardiac arrhythmia) is called tachyarrhythmia. MESH:D000075224|MESH:D001145 C14.280.067.845|C14.280.123.875|C23.550.073.845 C14.280.067|C14.280.123|C23.550.073 Tachyarrhythmia|Tachyarrhythmias|Tachycardias Cardiovascular disease|Pathology (process) Tachycardia, Atrioventricular Nodal Reentry MESH:D013611 Abnormally rapid heartbeats caused by reentry of atrial impulse into the dual (fast and slow) pathways of ATRIOVENTRICULAR NODE. The common type involves a blocked atrial impulse in the slow pathway which reenters the fast pathway in a retrograde direction and simultaneously conducts to the atria and the ventricles leading to rapid HEART RATE of 150-250 beats per minute. MESH:D054139 C14.280.067.845.787.249|C14.280.123.875.787.249|C23.550.073.845.787.500 C14.280.067.845.787|C14.280.123.875.787|C23.550.073.845.787 Atrioventricular Nodal Reentrant Tachycardia|Atrioventricular Nodal Re Entrant Tachycardia|Atrioventricular Nodal Re-Entrant Tachycardia|Atrioventricular Nodal Reentry Tachycardia|Atrioventricular Reentrant Tachycardia|Atrioventricular Reentrant Tachycardias|AV Nodal Reentrant Tachycardia|Reentrant Tachycardia, Atrioventricular|Tachycardia, Atrioventricular Reentrant|Tachycardia, AV Nodal Reentrant Cardiovascular disease|Pathology (process) Tachycardia, Ectopic Atrial MESH:D013612 Abnormally rapid heartbeats originating from one or more automatic foci (nonsinus pacemakers) in the HEART ATRIUM but away from the SINOATRIAL NODE. Unlike the reentry mechanism, automatic tachycardia speeds up and slows down gradually. The episode is characterized by a HEART RATE between 135 to less than 200 beats per minute and lasting 30 seconds or longer. MESH:D013617 C14.280.067.845.880.315|C14.280.123.875.880.315|C23.550.073.845.880.315 C14.280.067.845.880|C14.280.123.875.880|C23.550.073.845.880 Atrial Ectopic Tachycardia|Atrial Ectopic Tachycardias|Atrial Tachycardia, Ectopic|Atrial Tachycardias, Ectopic|Ectopic Atrial Tachycardia|Ectopic Atrial Tachycardias|Ectopic Tachycardia, Atrial|Ectopic Tachycardias, Atrial|Tachycardia, Atrial Ectopic|Tachycardias, Atrial Ectopic|Tachycardias, Ectopic Atrial Cardiovascular disease|Pathology (process) Tachycardia, Ectopic Junctional MESH:D013613 A rare form of supraventricular tachycardia caused by automatic, not reentrant, conduction initiated from sites at the atrioventricular junction, but not the ATRIOVENTRICULAR NODE. It usually occurs during myocardial infarction, after heart surgery, or in digitalis intoxication with a HEART RATE ranging from 140 to 250 beats per minute. MESH:D013617 C14.280.067.845.880.320|C14.280.123.875.880.320|C23.550.073.845.880.320 C14.280.067.845.880|C14.280.123.875.880|C23.550.073.845.880 Ectopic Junctional Tachycardia|Ectopic Junctional Tachycardias|Ectopic Tachycardia, Junctional|Ectopic Tachycardias, Junctional|Junctional Ectopic Tachycardia|Junctional Ectopic Tachycardias|Junctional Tachycardia, Ectopic|Junctional Tachycardias, Ectopic|Tachycardia, Junctional Ectopic|Tachycardias, Ectopic Junctional|Tachycardias, Junctional Ectopic Cardiovascular disease|Pathology (process) Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria MESH:C566880 MESH:D006973|MESH:D008850|MESH:D013610 C11.250.566/C566880|C14.280.067.845/C566880|C14.280.123.875/C566880|C14.907.489/C566880|C16.131.384.666/C566880|C23.550.073.845/C566880 C11.250.566|C14.280.067.845|C14.280.123.875|C14.907.489|C16.131.384.666|C23.550.073.845 Cardiovascular disease|Congenital abnormality|Eye disease|Pathology (process) Tachycardia, Paroxysmal MESH:D013614 Abnormally rapid heartbeats with sudden onset and cessation. MESH:D013610 C14.280.067.845.695|C14.280.123.875.695|C23.550.073.845.695 C14.280.067.845|C14.280.123.875|C23.550.073.845 Paroxysmal Reciprocal Tachycardia|Paroxysmal Reciprocal Tachycardias|Paroxysmal Tachycardia|Paroxysmal Tachycardias|Reciprocal Tachycardia, Paroxysmal|Reciprocal Tachycardias, Paroxysmal|Tachycardia, Paroxysmal Reciprocal|Tachycardias, Paroxysmal|Tachycardias, Paroxysmal Reciprocal Cardiovascular disease|Pathology (process) Tachycardia, Reciprocating MESH:D054139 Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE. MESH:D013610 C14.280.067.845.787|C14.280.123.875.787|C23.550.073.845.787 C14.280.067.845|C14.280.123.875|C23.550.073.845 Reciprocal Tachycardia|Reciprocal Tachycardias|Reciprocating Tachycardia|Reciprocating Tachycardias|Tachycardia, Reciprocal|Tachycardias, Reciprocal|Tachycardias, Reciprocating Cardiovascular disease|Pathology (process) Tachycardia, Sinoatrial Nodal Reentry MESH:D013615 Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval. MESH:D054139 C14.280.067.845.787.500|C14.280.123.875.787.500|C23.550.073.845.787.750 C14.280.067.845.787|C14.280.123.875.787|C23.550.073.845.787 Sinoatrial Nodal Reentry Tachycardia|Sinus Node Reentrant Tachycardia|Tachycardia, SA Nodal Reentrant Cardiovascular disease|Pathology (process) Tachycardia, Sinus MESH:D013616 Simple rapid heartbeats caused by rapid discharge of impulses from the SINOATRIAL NODE, usually between 100 and 180 beats/min in adults. It is characterized by a gradual onset and termination. Sinus tachycardia is common in infants, young children, and adults during strenuous physical activities. MESH:D013617 C14.280.067.845.880.845|C14.280.123.875.880.845|C23.550.073.845.880.845 C14.280.067.845.880|C14.280.123.875.880|C23.550.073.845.880 Sinus Tachycardia|Sinus Tachycardias|Tachycardias, Sinus Cardiovascular disease|Pathology (process) Tachycardia, Supraventricular MESH:D013617 A generic expression for any tachycardia that originates above the BUNDLE OF HIS. MESH:D013610 C14.280.067.845.880|C14.280.123.875.880|C23.550.073.845.880 C14.280.067.845|C14.280.123.875|C23.550.073.845 Supraventricular Tachycardia|Supraventricular Tachycardias|Tachycardias, Supraventricular Cardiovascular disease|Pathology (process) Tachycardia, Ventricular MESH:D017180 An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation). MESH:D013610 C14.280.067.845.940|C14.280.123.875.940|C23.550.073.845.940 C14.280.067.845|C14.280.123.875|C23.550.073.845 Idiopathic Ventricular Tachycardia|Idiopathic Ventricular Tachycardias|Nonsustained Ventricular Tachycardia|Nonsustained Ventricular Tachycardias|Paroxysmal Supraventricular Tachycardia|Paroxysmal Supraventricular Tachycardias|Supraventricular Tachycardia, Paroxysmal|Tachyarrhythmia, Ventricular|Tachycardia, Idiopathic Ventricular|Tachycardia, Nonsustained Ventricular|Tachycardia, Paroxysmal Supraventricular|Ventricular Tachyarrhythmia|Ventricular Tachyarrhythmias|Ventricular Tachycardia|Ventricular Tachycardia, Idiopathic|Ventricular Tachycardia, Nonsustained|Ventricular Tachycardias Cardiovascular disease|Pathology (process) Tachypnea MESH:D059246 Increased RESPIRATORY RATE. MESH:D012120|MESH:D012818 C08.618.961|C23.888.852.944 C08.618|C23.888.852 Tachypneas Respiratory tract disease|Signs and symptoms Taeniasis MESH:D013622 Infection with tapeworms of the genus Taenia. MESH:D002590 C01.610.335.190.902 C01.610.335.190 Infections, Taenia|Infection, Taenia|Infection, Taenia brauni|Infection, Taenia glomeratus|Infection, Taenia multiceps|Infection, Taenia serialis|Infection, Taenia solium|Taenia brauni Infection|Taenia brauni Infections|Taenia glomeratus Infection|Taenia glomeratus Infections|Taenia Infection|Taenia Infections|Taenia multiceps Infection|Taenia multiceps Infections|Taenia serialis Infection|Taenia serialis Infections|Taeniases|Taenia solium Infection|Taenia solium Infections Parasitic disease taijin kyofusho MESH:C000711528 MESH:D000072861 F03.080.725.500/C000711528 F03.080.725.500 taijin-kyofusho Mental disorder Takao VCF Syndrome MESH:C566051 MESH:D004062 C05.660.207.103.500/C566051|C14.240.400.021.500/C566051|C14.280.400.044.500/C566051|C15.604.451.249.500/C566051|C16.131.077.019.500/C566051|C16.131.240.400.021.500/C566051|C16.131.260.019.500/C566051|C16.131.482.249.500/C566051|C16.131.621.207.103.500/C566051|C16.320.180.019.500/C566051|C19.642.482.500.500/C566051 C05.660.207.103.500|C14.240.400.021.500|C14.280.400.044.500|C15.604.451.249.500|C16.131.077.019.500|C16.131.240.400.021.500|C16.131.260.019.500|C16.131.482.249.500|C16.131.621.207.103.500|C16.320.180.019.500|C19.642.482.500.500 Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Lymphatic disease|Musculoskeletal disease Takayasu Arteritis MESH:D013625 DO:DOID:2508 A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy. MESH:D001015|MESH:D001167|MESH:D017445 C14.907.109.239.650|C14.907.940.090.800|C17.800.862.875 C14.907.109.239|C14.907.940.090|C17.800.862 Aortitis Syndrome|Arteritides, Young Female|Arteritis, Takayasu|Arteritis, Takayasu's|Arteritis, Takayasus|Arteritis, Young Female|Disease, Takayasu|Female Arteritides, Young|Female Arteritis, Young|Pulseless Disease|Syndrome, Aortitis|Takayasu Disease|Takayasu's Arteritis|Takayasus Arteritis|Takayasu Syndrome|Young Female Arteritides|Young Female Arteritis Cardiovascular disease|Skin disease TAKENOUCHI-KOSAKI SYNDROME OMIM:616737 MESH:D008607|MESH:D013921 C10.597.606.360/616737|C15.378.140.855/616737|C23.888.592.604.646/616737|F03.625.539/616737 C10.597.606.360|C15.378.140.855|C23.888.592.604.646|F03.625.539 MACROTHROMBOCYTOPENIA AND MENTAL RETARDATION SYNDROME|TKS Blood disease|Mental disorder|Nervous system disease|Signs and symptoms Takotsubo Cardiomyopathy MESH:D054549 A transient left ventricular apical dysfunction or ballooning accompanied by electrocardiographic (ECG) T wave inversions. This abnormality is associated with high levels of CATECHOLAMINES, either administered or endogenously secreted from a tumor or during extreme stress. MESH:D009202|MESH:D018487 C14.280.238.906|C14.280.945.900.500 C14.280.238|C14.280.945.900 Apical Ballooning Syndrome|Broken Heart Syndrome|Cardiomyopathy, Stress|Cardiomyopathy, Takotsubo|Cardiomyopathy, Tako-Tsubo|Left Ventricular Apical Ballooning Syndrome|Stress Cardiomyopathy|Syndrome, Tako-Tsubo|Tako-Tsubo Cardiomyopathies|Tako Tsubo Cardiomyopathy|Tako-Tsubo Cardiomyopathy|Takotsubo Syndrome|Tako Tsubo Syndrome|Tako-Tsubo Syndrome|Tako-Tsubo Syndromes|Transient Apical Ballooning Syndrome Cardiovascular disease talaromycosis MESH:C000656865 MESH:D009181 C01.150.703/C000656865 C01.150.703 Penicillium marneffei infection|P marneffei infection|P. marneffei infection|Talaromyces infection|Talaromyces infections|Talaromyces marneffei infection|T marneffei infection|T. marneffei infection Bacterial infection or mycosis Talipes MESH:D000070558 Deformity in which the foot is misaligned with respect to the TALUS in the ANKLE JOINT. While mostly congenital, as in CLUBFOOT, acquired deformities are included. Acquired talipedes are often associated with other foot deformities such as SYNDACTYLY and POLYDACTYLY. MESH:D005531|MESH:D005532 C05.330.488.655|C05.330.495.681|C05.660.585.512.380.813|C16.131.621.585.512.500.681 C05.330.488|C05.330.495|C05.660.585.512.380|C16.131.621.585.512.500 Calcaneovarus, Talipes|Calcaneus, Talipes|Talipedes|Talipes Calcaneovarus|Talipes Calcaneus|Talipes Varus|Varus, Talipes Congenital abnormality|Musculoskeletal disease Talipes Cavus MESH:D000070589 A foot deformity in which the arch of the foot is high and often the heel adducted. MESH:D000070558 C05.330.488.655.500|C05.330.495.681.500|C05.660.585.512.380.813.500|C16.131.621.585.512.500.681.500 C05.330.488.655|C05.330.495.681|C05.660.585.512.380.813|C16.131.621.585.512.500.681 Cavovarus Foot Deformities|Cavovarus Foot Deformity|Cavus Deformities|Cavus Deformity|Cavus Foot|Foot Deformities, Cavovarus|Foot Deformity, Cavovarus|High Arched Foot|High-Arched Foot|Pes Cavus Congenital abnormality|Musculoskeletal disease Talonavicular coalition MESH:C536895 MESH:D005532 C05.330.495/C536895|C05.660.585.512.380/C536895|C16.131.621.585.512.500/C536895 C05.330.495|C05.660.585.512.380|C16.131.621.585.512.500 Congenital abnormality|Musculoskeletal disease Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals MESH:C536894 MESH:D010014|MESH:D013585 C05.116.264.579/C536894|C05.550.870/C536894 C05.116.264.579|C05.550.870 Musculoskeletal disease Tamari Goodman syndrome MESH:C536896 MESH:D000015|MESH:D006330|MESH:D008607|MESH:D015417|MESH:D038062 C05.660.585.988/C536896|C10.500.300/C536896|C10.574.500.495/C536896|C10.597.606.360/C536896|C10.668.829.800.300/C536896|C14.240.400/C536896|C14.280.400/C536896|C16.131.077/C536896|C16.131.240.400/C536896|C16.131.621.585.988/C536896|C16.131.666.300/C536896|C16.320.400.375/C536896|C23.888.592.604.646/C536896|F03.625.539/C536896 C05.660.585.988|C10.500.300|C10.574.500.495|C10.597.606.360|C10.668.829.800.300|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.585.988|C16.131.666.300|C16.320.400.375|C23.888.592.604.646|F03.625.539 Congenital heart disease radio ulnar synostos mental retardation|Upper limb cardiovascular syndromes Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Tang Hsi Ryu syndrome MESH:C536897 MESH:D006529|MESH:D009422|MESH:D010859|MESH:D013163 C06.552.416/C536897|C10/C536897|C17.800.621/C536897|C23.300.775.525/C536897|C23.300.775.750/C536897|C23.550.755/C536897 C06.552.416|C10|C17.800.621|C23.300.775.525|C23.300.775.750|C23.550.755 Ascitis, splenomegaly, lymphadenopathy|Polyneuropathy hepatosplenomegaly hyperpigmentation|Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly Digestive system disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Skin disease Tangier Disease MESH:D013631 DO:DOID:1388|OMIM:205400 An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD. MESH:D011115|MESH:D052456 C10.668.829.800.875|C16.320.565.398.500.330.750|C18.452.584.500.875.330.750|C18.452.584.563.500.330.750|C18.452.648.398.500.330.750 C10.668.829.800|C16.320.565.398.500.330|C18.452.584.500.875.330|C18.452.584.563.500.330|C18.452.648.398.500.330 A-alphalipoprotein Neuropathies|A-alphalipoprotein Neuropathy|Alpha High Density Lipoprotein Deficiency Disease|Analphalipoproteinemia|Analphalipoproteinemias|Cholesterol Thesaurismoses|Cholesterol Thesaurismosis|HDLDT1|High Density Lipoprotein Deficiency, Tangier Type|High-Density Lipoprotein Deficiency, Tangier Type|High Density Lipoprotein Deficiency, Type 1|High Density Lipoprotein Deficiency, Type I|High-Density Lipoprotein Deficiency, Type I|Neuropathies, A-alphalipoprotein|Neuropathy, A-alphalipoprotein|Neuropathy of Tangier Disease|Tangier Disease Neuropathy|Tangier Hereditary Neuropathy|TGD|Thesaurismoses, Cholesterol|Thesaurismosis, Cholesterol Genetic disease (inborn)|Metabolic disease|Nervous system disease Tapetoretinal Degeneration with Ataxia MESH:C564788 MESH:D001259|MESH:D012174 C10.597.350.090/C564788|C11.270.684/C564788|C11.768.585.658.500/C564788|C16.320.290.684/C564788|C23.888.592.350.090/C564788 C10.597.350.090|C11.270.684|C11.768.585.658.500|C16.320.290.684|C23.888.592.350.090 Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Tardive Dyskinesia MESH:D000071057 Drug-related movement disorder characterized by uncontrollable movements in certain muscles. It is associated with a long-term exposure to certain neuroleptic medications (e.g., METOCLOPRAMIDE). MESH:D004409 C10.228.662.262.500.500|C10.597.350.275.500|C23.888.592.350.275.500 C10.228.662.262.500|C10.597.350.275|C23.888.592.350.275 Dyskinesias, Tardive|Dyskinesia, Tardive|Dystonias, Tardive|Dystonia, Tardive|Tardive Dyskinesias|Tardive Dystonia|Tardive Dystonias Nervous system disease|Signs and symptoms Tarlov Cysts MESH:D052958 Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself. MESH:D003560|MESH:D010523 C04.182.872|C10.668.829.900 C04.182|C10.668.829 Cyst, Perineural|Cyst, Perineurial|Cyst, Sacral Perineural|Cysts, Perineural|Cysts, Perineurial|Cysts, Sacral Perineural|Cysts, Sacral Tarlov|Cysts, Tarlov|Cyst, Tarlov|Perineural Cyst|Perineural Cysts|Perineurial Cyst|Perineurial Cysts|Sacral Perineural Cyst|Sacral Perineural Cysts|Sacral Tarlov Cysts|Tarlov Cyst Cancer|Nervous system disease TARP syndrome MESH:C536942 DO:DOID:0111780|OMIM:311900 MESH:D003025|MESH:D006330|MESH:D010855 C05.330.488.655.063/C536942|C05.330.495.681.063/C536942|C05.500.460.606/C536942|C05.660.207.540.460.606/C536942|C05.660.585.512.380.813.063/C536942|C07.320.440.606/C536942|C07.650.500.460.606/C536942|C14.240.400/C536942|C14.280.400/C536942|C16.131.240.400/C536942|C16.131.621.207.540.460.606/C536942|C16.131.621.585.512.500.681.063/C536942|C16.131.850.500.460.606/C536942 C05.330.488.655.063|C05.330.495.681.063|C05.500.460.606|C05.660.207.540.460.606|C05.660.585.512.380.813.063|C07.320.440.606|C07.650.500.460.606|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.540.460.606|C16.131.621.585.512.500.681.063|C16.131.850.500.460.606 Pierre Robin syndrome with congenital heart malformation and clubfoot|Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava|TARPS Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease Tarsal Coalition MESH:D000070604 Congenital, complete or partial fusion of the TARSAL BONES of the foot. PES PLANUS is usually a feature. MESH:D005532|MESH:D013580 C05.116.099.370.894.909|C05.330.495.787|C05.660.585.512.380.875|C05.660.906.909|C16.131.621.585.512.500.787|C16.131.621.906.909 C05.116.099.370.894|C05.330.495|C05.660.585.512.380|C05.660.906|C16.131.621.585.512.500|C16.131.621.906 Synostoses, Tarsal|Synostosis, Tarsal|Tarsal Coalitions|Tarsal Synostoses|Tarsal Synostosis Congenital abnormality|Musculoskeletal disease Tarsal Tunnel Syndrome MESH:D013641 DO:DOID:12526 Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52) MESH:D009408|MESH:D020429 C10.668.829.500.700.800|C10.668.829.550.800 C10.668.829.500.700|C10.668.829.550 Entrapment Neuropathy, Tarsal Tunnel|Posterior Tibial Nerve Neuralgia|Syndromes, Tarsal Tunnel|Syndrome, Tarsal Tunnel|Tarsal Tunnel Entrapment Neuropathy|Tarsal Tunnel Syndromes|Tarsal Tunnel Tibial Neuropathy|Tibial Neuropathy, Tarsal Tunnel|Tunnel Syndromes, Tarsal|Tunnel Syndrome, Tarsal Nervous system disease Taste Disorders MESH:D013651 Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases). MESH:D012678 C10.597.751.861|C23.888.592.763.861 C10.597.751|C23.888.592.763 Dysfunction, Taste|Metallic Taste|Metallic Tastes|Primary Taste Disorder|Primary Taste Disorders|Secondary Taste Disorder|Secondary Taste Disorders|Taste Disorder|Taste Disorder, Anterior Tongue|Taste Disorder, Posterior Tongue|Taste Disorder, Primary|Taste Disorder, Primary, Bitter|Taste Disorder, Primary, Salt|Taste Disorder, Primary, Sweet|Taste Disorder, Secondary|Taste Disorder, Secondary, Bitter|Taste Disorder, Secondary, Salt|Taste Disorder, Secondary, Sweet|Taste Disorders, Primary|Taste Disorders, Secondary|Taste Dysfunction|Taste, Metallic|Tastes, Metallic Nervous system disease|Signs and symptoms Tatsumi Factor Deficiency MESH:C564787 MESH:D020147 C15.378.100.141/C564787 C15.378.100.141 Blood disease TATTON-BROWN-RAHMAN SYNDROME OMIM:615879 DO:DOID:0112339 MESH:D006130|MESH:D008607 C10.597.606.360/615879|C23.550.393/615879|C23.888.592.604.646/615879|F03.625.539/615879 C10.597.606.360|C23.550.393|C23.888.592.604.646|F03.625.539 TBRS Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Tauopathies MESH:D024801 DO:DOID:680 Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (TAU PROTEINS) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with ALZHEIMER DISEASE; DEMENTIA; PARKINSONIAN DISORDERS; progressive supranuclear palsy (SUPRANUCLEAR PALSY, PROGRESSIVE); and corticobasal degeneration. MESH:D019636 C10.574.945 C10.574 Tauopathy Nervous system disease Tauopathy and Respiratory Failure MESH:C563580 MESH:D012131|MESH:D013494 C08.618.846/C563580|C10.228.140.079.882/C563580|C10.228.662.700/C563580|C10.292.562.750.500/C563580|C10.574.945.500/C563580|C10.597.622.447.690/C563580|C11.590.472.500/C563580|C23.888.592.636.447.690/C563580 C08.618.846|C10.228.140.079.882|C10.228.662.700|C10.292.562.750.500|C10.574.945.500|C10.597.622.447.690|C11.590.472.500|C23.888.592.636.447.690 Eye disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Taurodontia absent teeth sparse hair MESH:C536945 MESH:D000848|MESH:D004476 C07.650.800.100/C536945|C07.793.700.100/C536945|C16.131.077.350/C536945|C16.131.831.350/C536945|C16.131.850.800.100/C536945|C16.320.850.250/C536945|C17.800.804.350/C536945|C17.800.827.250/C536945 C07.650.800.100|C07.793.700.100|C16.131.077.350|C16.131.831.350|C16.131.850.800.100|C16.320.850.250|C17.800.804.350|C17.800.827.250 Taurodontia, Absent Teeth, And Sparse Hair|Teeth, congenital absence of, with taurodontia and sparse hair Congenital abnormality|Genetic disease (inborn)|Mouth disease|Skin disease Taurodontism MESH:C536946 MESH:D014071 C07.650.800/C536946|C07.793.700/C536946|C16.131.850.800/C536946 C07.650.800|C07.793.700|C16.131.850.800 Bull teeth|Large pulp chambers, in the molars Congenital abnormality|Mouth disease Taurodontism, microdontia, and dens invaginatus MESH:C536947 MESH:D009056|MESH:D014071 C07.465.525/C536947|C07.650.525/C536947|C07.650.800/C536947|C07.793.700/C536947|C16.131.850.525/C536947|C16.131.850.800/C536947 C07.465.525|C07.650.525|C07.650.800|C07.793.700|C16.131.850.525|C16.131.850.800 Congenital abnormality|Mouth disease Tay-Sachs Disease MESH:D013661 DO:DOID:3320|OMIM:272800 An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. MESH:D020143 C10.228.140.163.100.435.825.300.300.500|C16.320.565.189.435.825.300.300.500|C16.320.565.398.641.803.350.300.850|C16.320.565.595.554.825.300.300.840|C18.452.132.100.435.825.300.300.500|C18.452.584.563.641.803.350.300.850|C18.452.648.189.435.825.300.300.500|C18.452.648.398.641.803.350.300.850|C18.452.648.595.554.825.300.300.840 C10.228.140.163.100.435.825.300.300|C16.320.565.189.435.825.300.300|C16.320.565.398.641.803.350.300|C16.320.565.595.554.825.300.300|C18.452.132.100.435.825.300.300|C18.452.584.563.641.803.350.300|C18.452.648.189.435.825.300.300|C18.452.648.398.641.803.350.300|C18.452.648.595.554.825.300.300 Amaurotic Familial Idiocy|Amaurotic Idiocy, Familial|B Variant GM2-Gangliosidoses|B Variant GM2 Gangliosidosis|B Variant GM2-Gangliosidosis|Deficiency Disease Hexosaminidase A|Deficiency, Hexosaminidase A|Deficiency, Hexosaminidase alpha-Subunit (Variant B)|Familial Amaurotic Idiocy|Gangliosidosis GM2, B Variant|Gangliosidosis GM2 , Type 1|Gangliosidosis G(M2), Type I|Gangliosidosis GM2, Type I|GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED|GM2 Gangliosidosis, B Variant|GM2-Gangliosidosis, B Variant|GM2 Gangliosidosis, Type 1|GM2 Gangliosidosis, Type I|GM2-Gangliosidosis, Type I|G(M2) Gangliosidosis, Type I|GM2-GANGLIOSIDOSIS, VARIANT B1, INCLUDED|HexA Deficiency|HEXA DEFICIENCY TAY-SACHS DISEASE, JUVENILE, INCLUDED|Hexosaminidase A Deficiency|HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED|Hexosaminidase A Deficiency Disease|Hexosaminidase alpha Subunit Deficiency (Variant B)|Hexosaminidase alpha-Subunit Deficiency (Variant B)|Sphingolipidosis, Tay Sachs|Sphingolipidosis, Tay-Sachs|Tay Sachs Disease|Tay Sachs Disease, B Variant|Tay-Sachs Disease, B Variant|TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED|TAY-SACHS DISEASE, VARIANT B1, INCLUDED|Tay-Sachs Sphingolipidosis|TSD|Type I GM2-Gangliosidosis Genetic disease (inborn)|Metabolic disease|Nervous system disease Tay-Sachs Disease, AB Variant MESH:D049290 DO:DOID:4795|OMIM:272750 A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein. MESH:D020143 C10.228.140.163.100.435.825.300.300.750|C16.320.565.189.435.825.300.300.750|C16.320.565.398.641.803.350.300.925|C16.320.565.595.554.825.300.300.920|C18.452.132.100.435.825.300.300.750|C18.452.584.563.641.803.350.300.925|C18.452.648.189.435.825.300.300.750|C18.452.648.398.641.803.350.300.925|C18.452.648.595.554.825.300.300.920 C10.228.140.163.100.435.825.300.300|C16.320.565.189.435.825.300.300|C16.320.565.398.641.803.350.300|C16.320.565.595.554.825.300.300|C18.452.132.100.435.825.300.300|C18.452.584.563.641.803.350.300|C18.452.648.189.435.825.300.300|C18.452.648.398.641.803.350.300|C18.452.648.595.554.825.300.300 AB Variant Gangliosidosis GM2|AB Variant GM2-Gangliosidoses|AB Variant GM2 Gangliosidosis|AB Variant GM2-Gangliosidosis|Activator Deficiencies, GM2|Activator Deficiencies, Hexosaminidase|Activator Deficiency, GM2|Activator Deficiency GM2 Gangliosidosis|Activator Deficiency, Hexosaminidase|Activator Deficient Tay Sachs Disease|Activator-Deficient Tay-Sachs Disease|Activator-Deficient Tay-Sachs Diseases|Deficiencies, GM2 Activator|Deficiencies, Hexosaminidase Activator|Deficiency Disease, GM2 Protein Activator|Deficiency, GM2 Activator|Deficiency, Hexosaminidase Activator|Disease, Activator-Deficient Tay-Sachs|Diseases, Activator-Deficient Tay-Sachs|Gangliosidosis GM2, AB Variant|Gangliosidosis GM2, Type AB|GM2 Activator Deficiencies|GM2 Activator Deficiency|GM2 Activator Deficiency Disease|GM2-Gangliosidoses, AB Variant|GM2 Gangliosidosis, AB Variant|GM2-Gangliosidosis, AB Variant|GM2 Gangliosidosis, Type AB|GM2 Protein Activator Deficiency Disease|Hexosaminidase Activator Deficiencies|Hexosaminidase Activator Deficiency|Hexosaminidase Activator Protein Deficiency Disease|Tay Sachs Disease, AB Variant|TAY-SACHS DISEASE, AB VARIANT|Tay-Sachs Disease, Activator-Deficient|Tay-Sachs Diseases, Activator-Deficient|Variant GM2-Gangliosidoses, AB|Variant GM2-Gangliosidosis, AB Genetic disease (inborn)|Metabolic disease|Nervous system disease Tay-Sachs Disease, Juvenile MESH:C564782 MESH:D013661 C10.228.140.163.100.435.825.300.300.500/C564782|C16.320.565.189.435.825.300.300.500/C564782|C16.320.565.398.641.803.350.300.850/C564782|C16.320.565.595.554.825.300.300.840/C564782|C18.452.132.100.435.825.300.300.500/C564782|C18.452.584.563.641.803.350.300.850/C564782|C18.452.648.189.435.825.300.300.500/C564782|C18.452.648.398.641.803.350.300.850/C564782|C18.452.648.595.554.825.300.300.840/C564782 C10.228.140.163.100.435.825.300.300.500|C16.320.565.189.435.825.300.300.500|C16.320.565.398.641.803.350.300.850|C16.320.565.595.554.825.300.300.840|C18.452.132.100.435.825.300.300.500|C18.452.584.563.641.803.350.300.850|C18.452.648.189.435.825.300.300.500|C18.452.648.398.641.803.350.300.850|C18.452.648.595.554.825.300.300.840 Genetic disease (inborn)|Metabolic disease|Nervous system disease Tay-Sachs Disease, Pseudo-AB Variant MESH:C564786 MESH:D013661 C10.228.140.163.100.435.825.300.300.500/C564786|C16.320.565.189.435.825.300.300.500/C564786|C16.320.565.398.641.803.350.300.850/C564786|C16.320.565.595.554.825.300.300.840/C564786|C18.452.132.100.435.825.300.300.500/C564786|C18.452.584.563.641.803.350.300.850/C564786|C18.452.648.189.435.825.300.300.500/C564786|C18.452.648.398.641.803.350.300.850/C564786|C18.452.648.595.554.825.300.300.840/C564786 C10.228.140.163.100.435.825.300.300.500|C16.320.565.189.435.825.300.300.500|C16.320.565.398.641.803.350.300.850|C16.320.565.595.554.825.300.300.840|C18.452.132.100.435.825.300.300.500|C18.452.584.563.641.803.350.300.850|C18.452.648.189.435.825.300.300.500|C18.452.648.398.641.803.350.300.850|C18.452.648.595.554.825.300.300.840 Genetic disease (inborn)|Metabolic disease|Nervous system disease Tay-Sachs Disease, Variant B1 MESH:C564785 MESH:D013661 C10.228.140.163.100.435.825.300.300.500/C564785|C16.320.565.189.435.825.300.300.500/C564785|C16.320.565.398.641.803.350.300.850/C564785|C16.320.565.595.554.825.300.300.840/C564785|C18.452.132.100.435.825.300.300.500/C564785|C18.452.584.563.641.803.350.300.850/C564785|C18.452.648.189.435.825.300.300.500/C564785|C18.452.648.398.641.803.350.300.850/C564785|C18.452.648.595.554.825.300.300.840/C564785 C10.228.140.163.100.435.825.300.300.500|C16.320.565.189.435.825.300.300.500|C16.320.565.398.641.803.350.300.850|C16.320.565.595.554.825.300.300.840|C18.452.132.100.435.825.300.300.500|C18.452.584.563.641.803.350.300.850|C18.452.648.189.435.825.300.300.500|C18.452.648.398.641.803.350.300.850|C18.452.648.595.554.825.300.300.840 Genetic disease (inborn)|Metabolic disease|Nervous system disease T-cell immunodeficiency, congenital alopecia and nail dystrophy MESH:C536781 DO:DOID:0060769|OMIM:601705 MESH:D000505|MESH:D009260|MESH:D016511 C16.320.798.750/C536781|C16.614.815/C536781|C17.800.329.937.122/C536781|C17.800.529/C536781|C18.452.284.800/C536781|C20.673.795.750/C536781|C23.300.035/C536781 C16.320.798.750|C16.614.815|C17.800.329.937.122|C17.800.529|C18.452.284.800|C20.673.795.750|C23.300.035 Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|Pignata Guarino syndrome|T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy|TIDAND Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease|Pathology (anatomical condition)|Skin disease T cell immunodeficiency primary MESH:C536780 MESH:D000081207 C16.320.798/C536780|C20.673.795/C536780 C16.320.798|C20.673.795 Primary T-Cell Immunodeficiency Disorders Genetic disease (inborn)|Immune system disease T-cell lymphoma 1A MESH:C536782 MESH:D016399 C04.557.386.480.750/C536782|C15.604.515.569.480.750/C536782|C20.683.515.761.480.750/C536782 C04.557.386.480.750|C15.604.515.569.480.750|C20.683.515.761.480.750 Cancer|Immune system disease|Lymphatic disease T-Cell OKT4 Deficiency MESH:C566080 MESH:D007153|MESH:D007960 C15.378.553/C566080|C20.673/C566080 C15.378.553|C20.673 Blood disease|Immune system disease TDP-43 Proteinopathies MESH:D057177 Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease. MESH:D019636|MESH:D057165 C10.574.950|C18.452.845.800 C10.574|C18.452.845 Proteinopathies, TDP-43|Proteinopathy, TDP-43|TDP 43 Proteinopathies|TDP-43 Proteinopathy Metabolic disease|Nervous system disease Technophobia MESH:C000719218 MESH:D010698 F03.080.725/C000719218 F03.080.725 Cyberphobia|Fear of computers|Fear of technology Mental disorder Teebi Kaurah syndrome MESH:C536948 MESH:D006228|MESH:D008831|MESH:D009264 C05.390.408/C536948|C05.660.207.620/C536948|C05.660.585.988.425/C536948|C10.500.507.400.500/C536948|C16.131.621.207.620/C536948|C16.131.621.585.988.500/C536948|C16.131.666.507.400.500/C536948|C23.300.820/C536948 C05.390.408|C05.660.207.620|C05.660.585.988.425|C10.500.507.400.500|C16.131.621.207.620|C16.131.621.585.988.500|C16.131.666.507.400.500|C23.300.820 Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Teebi Naguib Al Awadi syndrome MESH:C536949 MESH:D010009 C05.116.099.708/C536949|C16.320.728/C536949 C05.116.099.708|C16.320.728 Al Awadi Teebi Farag syndrome|Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence Genetic disease (inborn)|Musculoskeletal disease Teebi Shaltout syndrome MESH:C536950 MESH:D000015|MESH:D019465 C05.660.207/C536950|C16.131.077/C536950|C16.131.621.207/C536950 C05.660.207|C16.131.077|C16.131.621.207 Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage|Teebi-Shaltout Syndrome Congenital abnormality|Musculoskeletal disease Teeth noneruption of with maxillary hypoplasia and genu valgum MESH:C536952 MESH:D000015|MESH:D014071|MESH:D056304 C05.116.482/C536952|C07.650.800/C536952|C07.793.700/C536952|C16.131.077/C536952|C16.131.850.800/C536952 C05.116.482|C07.650.800|C07.793.700|C16.131.077|C16.131.850.800 Teeth, Noneruption of, With Maxillary Hypoplasia and Genu Valgum Congenital abnormality|Mouth disease|Musculoskeletal disease Teeth, Odd Shapes Of MESH:C566076 MESH:D014071 C07.650.800/C566076|C07.793.700/C566076|C16.131.850.800/C566076 C07.650.800|C07.793.700|C16.131.850.800 Conical Teeth, Multiple|Lobodontia Congenital abnormality|Mouth disease Telangiectasia, Generalized Essential MESH:C562998 MESH:D013684 C14.907.823/C562998 C14.907.823 Cardiovascular disease Telangiectasia, Hereditary Benign MESH:C562908 OMIM:187260 MESH:D013684 C14.907.823/C562908 C14.907.823 HBT|TELANGIECTASIA, GENERALIZED ESSENTIAL Cardiovascular disease Telangiectasia, Hereditary Hemorrhagic MESH:D013683 DO:DOID:1270|OMIM:187300 An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA. MESH:D013684|MESH:D020141|MESH:D054079 C14.907.454.900|C14.907.823.780|C15.378.463.515.900|C16.131.240.850.968 C14.907.454|C14.907.823|C15.378.463.515|C16.131.240.850 Hemorrhagic Telangiectasia, Hereditary|Hereditary Hemorrhagic Telangiectasia|HHT|HHT1|ORW DISEASE|Osler Disease|Osler Rendu Disease|Osler-Rendu Disease|Osler Rendu Weber Disease|Osler-Rendu-Weber Disease|Osler's Disease|Osler Weber Rendu Syndrome|Osler-Weber-Rendu Syndrome|Rendu Osler Weber Disease|Rendu-Osler-Weber Disease|Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber|Telangiectasia, Hereditary Hemorrhagic, Type 1|Weber Osler Disease|Weber-Osler Disease|Weber Osler Syndrome|Weber-Osler Syndrome Blood disease|Cardiovascular disease|Congenital abnormality Telangiectasia, Hereditary Hemorrhagic, Type 4 MESH:C565691 OMIM:610655 MESH:D013683 C14.907.454.900/C565691|C14.907.823.780/C565691|C15.378.463.515.900/C565691|C16.131.240.850.968/C565691 C14.907.454.900|C14.907.823.780|C15.378.463.515.900|C16.131.240.850.968 HHT4 Blood disease|Cardiovascular disease|Congenital abnormality TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 OMIM:615506 DO:DOID:1270 MESH:D013683 C14.907.454.900/615506|C14.907.823.780/615506|C15.378.463.515.900/615506|C16.131.240.850.968/615506 C14.907.454.900|C14.907.823.780|C15.378.463.515.900|C16.131.240.850.968 HHT5 Blood disease|Cardiovascular disease|Congenital abnormality Telangiectasia macularis eruptiva perstans MESH:C000715747 MESH:D034701 C04.557.450.565.465.500/C000715747|C04.588.805.309/C000715747|C17.800.882.356/C000715747|C20.762.750.563/C000715747 C04.557.450.565.465.500|C04.588.805.309|C17.800.882.356|C20.762.750.563 Paucicellular mastocytosis|Telangiectasia macularis eruptive perstans|Telangiectatic cutaneous mastocytosis Cancer|Immune system disease|Skin disease Telangiectasis MESH:D013684 DO:DOID:1272 Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders. MESH:D014652 C14.907.823 C14.907 Spider Vein|Spider Veins|Telangiectases|Telangiectasia|Telangiectasias|Vein, Spider|Veins, Spider Cardiovascular disease Telecanthus MESH:C562941 MESH:D019465 C05.660.207/C562941|C16.131.621.207/C562941 C05.660.207|C16.131.621.207 Congenital abnormality|Musculoskeletal disease Telencephalic leukoencephalopathy MESH:C536954 MESH:D056784 C10.228.140.695/C536954 C10.228.140.695 Nervous system disease Telfer Sugar Jaeger syndrome MESH:C536955 MESH:D009069|MESH:D016116 C10.228.662/C536955|C16.320.290.040.600/C536955|C16.320.565.100.102.600/C536955|C16.320.850.080.600/C536955|C17.800.621.440.102.600/C536955|C17.800.827.080.600/C536955|C18.452.648.100.102.600/C536955 C10.228.662|C16.320.290.040.600|C16.320.565.100.102.600|C16.320.850.080.600|C17.800.621.440.102.600|C17.800.827.080.600|C18.452.648.100.102.600 Piebald trait neurologic defects|White forelock and leukoderma with neurological impairment Genetic disease (inborn)|Metabolic disease|Nervous system disease|Skin disease Tel Hashomer camptodactyly syndrome MESH:C536953 MESH:D006228|MESH:D006344|MESH:D006628|MESH:D009135 C05.390.408/C536953|C05.651/C536953|C05.660.585.988.425/C536953|C10.668.491/C536953|C14.240.400.560.375/C536953|C14.280.400.560.375/C536953|C16.131.240.400.560.375/C536953|C16.131.621.585.988.500/C536953|C17.800.329.750/C536953|C23.888.971.468/C536953 C05.390.408|C05.651|C05.660.585.988.425|C10.668.491|C14.240.400.560.375|C14.280.400.560.375|C16.131.240.400.560.375|C16.131.621.585.988.500|C17.800.329.750|C23.888.971.468 Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Telomeric 22q13 Monosomy Syndrome MESH:C536801 OMIM:606232 MESH:D002872|MESH:D025063 C16.131.260/C536801|C16.320.180/C536801|C23.550.210.050.500.500/C536801 C16.131.260|C16.320.180|C23.550.210.050.500.500 22q13.3 Deletion Syndrome|22q13 Deletion Syndrome|Chromosome 22q13.3 Deletion Syndrome|Deletion 22q13.3 Syndrome|Deletion 22q13 Syndrome|Monosomy 22q13|Phelan-McDermid Syndrome|PHMDS|TELOMERIC 22q13 MONOSOMY SYNDROME Congenital abnormality|Genetic disease (inborn)|Pathology (process) Temple-Baraitser Syndrome MESH:C567516 OMIM:611816 MESH:D008607|MESH:D009264 C10.597.606.360/C567516|C23.300.820/C567516|C23.888.592.604.646/C567516|F03.625.539/C567516 C10.597.606.360|C23.300.820|C23.888.592.604.646|F03.625.539 Mental Retardation, Severe, And Absent Nails Of Hallux And Pollex|TMBTS Mental disorder|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Temple syndrome MESH:C000726750 MESH:D009123|MESH:D019066 C10.597.613.575/C000726750|C23.550.291.812/C000726750|C23.888.592.608.575/C000726750 C10.597.613.575|C23.550.291.812|C23.888.592.608.575 maternal uniparental disomy of chromosome 14|UPD14mat Nervous system disease|Pathology (process)|Signs and symptoms Temporal epilepsy, familial MESH:C536956 MESH:D004833 C10.228.140.490.360.290/C536956|C10.228.140.490.493.375/C536956 C10.228.140.490.360.290|C10.228.140.490.493.375 Epilepsy, familial temporal lobe|Familial temporal lobe epilepsy Nervous system disease Temporomandibular ankylosis MESH:C536957 MESH:D000844|MESH:D013705 C05.500.607.221.897/C536957|C05.550.069/C536957|C05.550.905/C536957|C05.651.243.897/C536957|C07.320.610.291.897/C536957|C07.678/C536957 C05.500.607.221.897|C05.550.069|C05.550.905|C05.651.243.897|C07.320.610.291.897|C07.678 Ankylosis of the temporomandibular joint (TMJ)|TMJ Ankylosis Mouth disease|Musculoskeletal disease Temporomandibular Joint Disorders MESH:D013705 A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia. (From Thoma's Oral Pathology, 6th ed, pp577-600) MESH:D007592|MESH:D009057|MESH:D017271 C05.500.607.221.897|C05.550.905|C05.651.243.897|C07.320.610.291.897|C07.678 C05.500.607.221|C05.550|C05.651.243|C07|C07.320.610.291 Diseases, Temporomandibular Joint|Diseases, TMJ|Disease, Temporomandibular Joint|Disease, TMJ|Disorders, Temporomandibular|Disorders, Temporomandibular Joint|Disorders, TMJ|Disorder, Temporomandibular|Disorder, Temporomandibular Joint|Disorder, TMJ|Joint Diseases, Temporomandibular|Joint Disease, Temporomandibular|Joint Disorders, Temporomandibular|Joint Disorder, Temporomandibular|Temporomandibular Disorder|Temporomandibular Disorders|Temporomandibular Joint Disease|Temporomandibular Joint Diseases|Temporomandibular Joint Disorder|TMJ Disease|TMJ Diseases|TMJ Disorder|TMJ Disorders Mouth disease|Musculoskeletal disease Temporomandibular Joint Dysfunction Syndrome MESH:D013706 A symptom complex consisting of pain, muscle tenderness, clicking in the joint, and limitation or alteration of mandibular movement. The symptoms are subjective and manifested primarily in the masticatory muscles rather than the temporomandibular joint itself. Etiologic factors are uncertain but include occlusal dysharmony and psychophysiologic factors. MESH:D009209|MESH:D013705 C05.500.607.221.897.897|C05.550.905.905|C05.651.243.897.897|C05.651.550.905|C07.320.610.291.897.897|C07.678.949 C05.500.607.221.897|C05.550.905|C05.651.243.897|C05.651.550|C07.320.610.291.897|C07.678 Costen's Syndrome|Costens Syndrome|Costen Syndrome|Joint Syndrome, Temporomandibular|Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint|Syndrome, Costen's|Syndrome, Temporomandibular Joint|Syndrome, TMJ|Temporomandibular Joint Syndrome|TMJ Syndrome Mouth disease|Musculoskeletal disease Temtamy preaxial brachydactyly syndrome MESH:C536958 DO:DOID:0050814|OMIM:605282 MESH:D003638|MESH:D008607|MESH:D009056|MESH:D014071|MESH:D059327 C05.660.585.262/C536958|C07.465.525/C536958|C07.650.525/C536958|C07.650.800/C536958|C07.793.700/C536958|C09.218.458.341.186/C536958|C10.597.606.360/C536958|C10.597.751.418.341.186/C536958|C16.131.621.585.262/C536958|C16.131.850.525/C536958|C16.131.850.800/C536958|C23.888.592.604.646/C536958|C23.888.592.763.393.341.186/C536958|F03.625.539/C536958 C05.660.585.262|C07.465.525|C07.650.525|C07.650.800|C07.793.700|C09.218.458.341.186|C10.597.606.360|C10.597.751.418.341.186|C16.131.621.585.262|C16.131.850.525|C16.131.850.800|C23.888.592.604.646|C23.888.592.763.393.341.186|F03.625.539 Preaxial brachydactyly syndrome, Temtamy type|TPBS Congenital abnormality|Ear-nose-throat disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Temtamy syndrome MESH:C536959 DO:DOID:0111621|OMIM:218340 MESH:D003103|MESH:D019465|MESH:D061085 C05.660.207/C536959|C10.500.034/C536959|C11.250.110/C536959|C11.270.147/C536959|C16.131.384.282/C536959|C16.131.621.207/C536959|C16.131.666.034/C536959|C23.300.008/C536959 C05.660.207|C10.500.034|C11.250.110|C11.270.147|C16.131.384.282|C16.131.621.207|C16.131.666.034|C23.300.008 Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation|Craniofacial Dysmorphism With Ocular Coloboma, Absent Corpus Callosum, And Aortic Dilatation|Dysmorphism, corpus callosum agenesis and colobomas|MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM|TEMTYS Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Tendinopathy MESH:D052256 DO:DOID:971 Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance. MESH:D009135|MESH:D013708 C05.651.869|C26.874.800 C05.651|C26.874 Tendinitides|Tendinitis|Tendinopathies|Tendinoses|Tendinosis|Tendonitides|Tendonitis|Tendonopathies|Tendonopathy|Tendonoses|Tendonosis Musculoskeletal disease|Wounds and injuries Tendon Entrapment MESH:D053682 Narrowing or stenosis of a tendon's retinacular sheath. It occurs most often in the hand or wrist but can also be found in the foot or ankle. The most common types are DE QUERVAIN DISEASE and TRIGGER FINGER DISORDER. MESH:D052256 C05.651.869.816 C05.651.869 Entrapments, Tendon|Entrapment, Tendon|Stenosing Tendovaginitides|Stenosing Tendovaginitis|Stenosing Tenosynovitides|Stenosing Tenosynovitis|Stenosing Tenovaginitides|Stenosing Tenovaginitis|Tendon Entrapments|Tendovaginitides, Stenosing|Tendovaginitis, Stenosing|Tenosynovitides, Stenosing|Tenosynovitis, Stenosing|Tenovaginitides, Stenosing|Tenovaginitis, Stenosing Musculoskeletal disease Tendon Injuries MESH:D013708 Injuries to the fibrous cords of connective tissue which attach muscles to bones or other structures. MESH:D014947 C26.874 C26 Injuries, Tendon|Injury, Tendon|Tendon Injury Wounds and injuries Tennis Elbow MESH:D013716 DO:DOID:14087 A condition characterized by pain in or near the lateral humeral epicondyle or in the forearm extensor muscle mass as a result of unusual strain. It occurs due repetitive stresses on the elbow from activities such as tennis playing. MESH:D000070639|MESH:D000092464 C05.651.869.435.500|C26.088.134.750|C26.874.800.500.500 C05.651.869.435|C26.088.134|C26.874.800.500 Elbow, Tennis|Epicondylitides, Lateral|Epicondylitides, Lateral Humeral|Epicondylitis, Lateral|Epicondylitis, Lateral Humeral|Humeral Epicondylitides, Lateral|Humeral Epicondylitis, Lateral|Lateral Epicondylitides|Lateral Epicondylitis|Lateral Humeral Epicondylitides|Lateral Humeral Epicondylitis|Tennis Elbows Musculoskeletal disease|Wounds and injuries TENORIO SYNDROME OMIM:616260 MESH:D006130|MESH:D008607|MESH:D058627 C05.660.207.536/616260|C10.500.507.400.249/616260|C10.597.606.360/616260|C16.131.621.207.532/616260|C16.131.666.507.400.249/616260|C23.550.393/616260|C23.888.592.604.646/616260|F03.625.539/616260 C05.660.207.536|C10.500.507.400.249|C10.597.606.360|C16.131.621.207.532|C16.131.666.507.400.249|C23.550.393|C23.888.592.604.646|F03.625.539 OVERGROWTH, MACROCEPHALY, AND INTELLECTUAL DISABILITY SYNDROME|TNORS Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Tenosynovitis MESH:D013717 DO:DOID:970 Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced. MESH:D052256 C05.651.869.870 C05.651.869 Tenosynovitides Musculoskeletal disease Tension-Type Headache MESH:D018781 A common primary headache disorder, characterized by a dull, non-pulsatile, diffuse, band-like (or vice-like) PAIN of mild to moderate intensity in the HEAD; SCALP; or NECK. The subtypes are classified by frequency and severity of symptoms. There is no clear cause even though it has been associated with MUSCLE CONTRACTION and stress. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) MESH:D051270 C10.228.140.546.399.875 C10.228.140.546.399 Headache, Idiopathic|Headache, Psychogenic|Headaches, Idiopathic|Headaches, Psychogenic|Headaches, Stress|Headaches, Tension|Headaches, Tension-Type|Headaches, Tension-Vascular|Headache, Stress|Headache, Tension|Headache, Tension-Type|Headache, Tension-Vascular|Idiopathic Headache|Idiopathic Headaches|Psychogenic Headache|Psychogenic Headaches|Stress Headache|Stress Headaches|Tension Headache|Tension Headaches|Tension Type Headache|Tension-Type Headaches|Tension Vascular Headache|Tension-Vascular Headache|Tension-Vascular Headaches Nervous system disease Teratocarcinoma MESH:D018243 DO:DOID:3305 A malignant neoplasm consisting of elements of teratoma with those of embryonal carcinoma or choriocarcinoma, or both. It occurs most often in the testis. (Dorland, 27th ed) MESH:D009373 C04.557.465.900 C04.557.465 Teratocarcinomas Cancer Teratogenesis MESH:D064793 The formation of CONGENITAL ABNORMALITIES. MESH:D010335 C23.550.863 C23.550 Pathology (process) Teratoid Tumor, Atypical MESH:C563737 MESH:D013724|MESH:D018335 C04.557.435.710/C563737|C04.557.465.910/C563737 C04.557.435.710|C04.557.465.910 Cancer Teratoma MESH:D013724 DO:DOID:3307|DO:DOID:5563 A true neoplasm composed of a number of different types of tissue, none of which is native to the area in which it occurs. It is composed of tissues that are derived from three germinal layers, the endoderm, mesoderm, and ectoderm. They are classified histologically as mature (benign) or immature (malignant). (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1642) MESH:D009373 C04.557.465.910 C04.557.465 Benign Teratoma|Benign Teratomas|Dysembryoma|Dysembryomas|Immature Teratoma|Immature Teratomas|Malignant Teratoma|Malignant Teratomas|Teratoid Tumor|Teratoid Tumors|Teratoma, Benign|Teratoma, Cystic|Teratoma, Immature|Teratoma, Malignant|Teratoma, Mature|Teratomas|Teratomas, Benign|Teratomas, Immature|Teratomas, Malignant|Tumors, Teratoid|Tumor, Teratoid Cancer Teratoma, Ovarian MESH:C562731 DO:DOID:5117 MESH:D010051|MESH:D013724 C04.557.465.910/C562731|C04.588.322.455/C562731|C12.050.351.500.056.630.705/C562731|C12.050.351.937.418.685/C562731|C12.100.250.056.630.705/C562731|C12.900.418.685/C562731|C19.344.410/C562731|C19.391.630.705/C562731 C04.557.465.910|C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C19.344.410|C19.391.630.705 Dermoid Cyst, Ovarian Cancer|Endocrine system disease|Urogenital disease (female) Teratoma, Testicular MESH:C562472 MESH:D013724|MESH:D013736 C04.557.465.910/C562472|C04.588.322.762/C562472|C04.588.945.440.915/C562472|C12.100.500.260.937/C562472|C12.200.294.260.937/C562472|C12.200.758.409.937/C562472|C12.900.619.937/C562472|C19.344.762/C562472|C19.391.829.782/C562472 C04.557.465.910|C04.588.322.762|C04.588.945.440.915|C12.100.500.260.937|C12.200.294.260.937|C12.200.758.409.937|C12.900.619.937|C19.344.762|C19.391.829.782 Cancer|Endocrine system disease|Urogenital disease (male) Teratozoospermia MESH:D000072660 DO:DOID:0070167 Conditions in which sperm show abnormal morphology. MESH:D007248 C12.100.500.430.877|C12.100.750.700.877|C12.200.294.430.877 C12.100.500.430|C12.100.750.700|C12.200.294.430 Abnormal Spermatozoa|Abnormal Spermatozoas|Globozoospermia|Globozoospermias|Spermatozoa, Abnormal|Spermatozoas, Abnormal|Teratospermia|Teratospermias|Teratozoospermias Urogenital disease (male) Ter Haar syndrome MESH:C537274 DO:DOID:0111789|OMIM:249420 MESH:D002658|MESH:D006330|MESH:D010009|MESH:D019465 C05.116.099.708/C537274|C05.660.207/C537274|C14.240.400/C537274|C14.280.400/C537274|C16.131.240.400/C537274|C16.131.621.207/C537274|C16.320.728/C537274|F03.625.421/C537274 C05.116.099.708|C05.660.207|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207|C16.320.728|F03.625.421 Borrone dermatocardioskeletal syndrome|Borrone Di Rocco Crovato syndrome|Frank Ter Haar syndrome|Frank-Ter Haar Syndrome|FTHS|Megalocornea, multiple skeletal anomalies, and developmental delay|MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY|TER HAAR SYNDROME Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease TERMINAL OSSEOUS DYSPLASIA OMIM:300244 DO:DOID:0112149 MESH:D005532|MESH:D006228|MESH:D010009|MESH:D010859|MESH:D040181 C05.116.099.708/300244|C05.330.495/300244|C05.390.408/300244|C05.660.585.512.380/300244|C05.660.585.988.425/300244|C16.131.621.585.512.500/300244|C16.131.621.585.988.500/300244|C16.320.322/300244|C16.320.728/300244|C17.800.621/300244|C23.550.755/300244 C05.116.099.708|C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.320.322|C16.320.728|C17.800.621|C23.550.755 ODPD|ODPF|ODPF SYNDROME|OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA|TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS|TOD|TODPD Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Skin disease Terminal Osseous Dysplasia and Pigmentary Defects MESH:C564554 DO:DOID:0112149 MESH:D010009|MESH:D010859|MESH:D017880|MESH:D040181 C05.116.099.708/C564554|C05.660.585/C564554|C16.131.621.585/C564554|C16.320.322/C564554|C16.320.728/C564554|C17.800.621/C564554|C23.550.755/C564554 C05.116.099.708|C05.660.585|C16.131.621.585|C16.320.322|C16.320.728|C17.800.621|C23.550.755 Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)|Skin disease Terminal Transverse Defects of Arm MESH:C565681 MESH:D000652|MESH:D038062 C05.660.585.988/C565681|C16.131.621.585.988/C565681|C16.614.042/C565681 C05.660.585.988|C16.131.621.585.988|C16.614.042 Congenital abnormality|Infant-newborn disease|Musculoskeletal disease Tertiary Lymphoid Structures MESH:D000072717 Aggregates of immune cells formed near the sites of chronically inflamed, infected, or tumorous tissues. MESH:D020763 C23.300.955 C23.300 Ectopic Lymph Node|Ectopic Lymph Nodes|Ectopic Lymphoid Follicle|Ectopic Lymphoid Follicles|Ectopic Lymphoid Formation|Ectopic Lymphoid Formations|Ectopic Lymphoid-Like Structure|Ectopic Lymphoid Like Structures|Ectopic Lymphoid-Like Structures|Ectopic Lymphoid Organ|Ectopic Lymphoid Organs|Ectopic Lymphoid Tissue|Ectopic Lymphoid Tissues|Lymph Node, Ectopic|Lymph Nodes, Ectopic|Lymphoid Follicle, Ectopic|Lymphoid Follicles, Ectopic|Lymphoid Formation, Ectopic|Lymphoid Formations, Ectopic|Lymphoid-Like Structure, Ectopic|Lymphoid-Like Structures, Ectopic|Lymphoid Organ, Ectopic|Lymphoid Organs, Ectopic|Lymphoid Structures, Tertiary|Lymphoid Structure, Tertiary|Lymphoid Tissue, Ectopic|Lymphoid Tissues, Ectopic|Tertiary Lymphoid Structure Pathology (anatomical condition) TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE OMIM:615542 MESH:D003456|MESH:D006330|MESH:D058490 C12.050.351.875.253.096/615542|C12.100.500.829.258/615542|C12.200.294.829.258/615542|C12.200.706.258/615542|C12.200.706.316.096/615542|C12.800.258/615542|C12.800.316.096/615542|C14.240.400/615542|C14.280.400/615542|C16.131.240.400/615542|C16.131.939.258/615542|C16.131.939.316.096/615542|C19.391.119.096/615542|C19.391.829.258/615542 C12.050.351.875.253.096|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.200.706.316.096|C12.800.258|C12.800.316.096|C14.240.400|C14.280.400|C16.131.240.400|C16.131.939.258|C16.131.939.316.096|C19.391.119.096|C19.391.829.258 TACHD Cardiovascular disease|Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Testicular Diseases MESH:D013733 DO:DOID:2519 Pathological processes of the TESTIS. MESH:D005832|MESH:D006058 C12.100.500.829|C12.200.294.829|C19.391.829 C12.100.500|C12.200.294|C19.391 Diseases, Testicular|Disease, Testicular|Testicular Disease Endocrine system disease|Urogenital disease (male) Testicular Germ Cell Tumor MESH:C563236 DO:DOID:5557|OMIM:273300 MESH:D009373|MESH:D013736 C04.557.465/C563236|C04.588.322.762/C563236|C04.588.945.440.915/C563236|C12.100.500.260.937/C563236|C12.200.294.260.937/C563236|C12.200.758.409.937/C563236|C12.900.619.937/C563236|C19.344.762/C563236|C19.391.829.782/C563236 C04.557.465|C04.588.322.762|C04.588.945.440.915|C12.100.500.260.937|C12.200.294.260.937|C12.200.758.409.937|C12.900.619.937|C19.344.762|C19.391.829.782 EMBRYONAL CELL CARCINOMA, INCLUDED|ENDODERMAL SINUS TUMOR, INCLUDED|MALE GERM CELL TUMOR;MGCT SEMINOMA, INCLUDED|NONSEMINOMATOUS GERM CELL TUMORS, INCLUDED|SPERMATOCYTIC SEMINOMA, INCLUDED|TERATOMA, TESTICULAR, INCLUDED|TGCT Cancer|Endocrine system disease|Urogenital disease (male) Testicular Germ Cell Tumor 1 MESH:C564559 OMIM:300228 MESH:D009373|MESH:D013736|MESH:D040181 C04.557.465/C564559|C04.588.322.762/C564559|C04.588.945.440.915/C564559|C12.100.500.260.937/C564559|C12.200.294.260.937/C564559|C12.200.758.409.937/C564559|C12.900.619.937/C564559|C16.320.322/C564559|C19.344.762/C564559|C19.391.829.782/C564559 C04.557.465|C04.588.322.762|C04.588.945.440.915|C12.100.500.260.937|C12.200.294.260.937|C12.200.758.409.937|C12.900.619.937|C16.320.322|C19.344.762|C19.391.829.782 TGCT1 Cancer|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (male) Testicular Hydrocele MESH:D006848 Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM. MESH:D005832 C12.100.500.882|C12.200.294.882 C12.100.500|C12.200.294 Hydrocele, Scrotal|Hydroceles, Scrotal|Hydroceles, Testicular|Hydroceles, Vaginal|Hydrocele, Testicular|Hydrocele, Vaginal|Scrotal Hydrocele|Scrotal Hydroceles|Testicular Hydroceles|Vaginal Hydrocele|Vaginal Hydroceles Urogenital disease (male) Testicular Microlithiasis MESH:C566478 OMIM:610441 MESH:D002137|MESH:D013733 C12.100.500.829/C566478|C12.200.294.829/C566478|C19.391.829/C566478|C23.300.175/C566478 C12.100.500.829|C12.200.294.829|C19.391.829|C23.300.175 Endocrine system disease|Pathology (anatomical condition)|Urogenital disease (male) Testicular Neoplasms MESH:D013736 DO:DOID:2998 Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms. MESH:D004701|MESH:D005834|MESH:D013733 C04.588.322.762|C04.588.945.440.915|C12.100.500.260.937|C12.200.294.260.937|C12.200.758.409.937|C12.900.619.937|C19.344.762|C19.391.829.782 C04.588.322|C04.588.945.440|C12.100.500.260|C12.200.294.260|C12.200.758.409|C12.900.619|C19.344|C19.391.829 Cancer of Testis|Cancer of the Testes|Cancer of the Testis|Cancers, Testicular|Cancers, Testis|Cancer, Testicular|Cancer, Testis|Neoplasms, Testicular|Neoplasms, Testis|Neoplasm, Testicular|Neoplasm, Testis|Rete Testis Tumor|Rete Testis Tumors|Testicular Cancer|Testicular Cancers|Testicular Neoplasm|Testicular Tumor|Testicular Tumors|Testis Cancer|Testis Cancers|Testis Neoplasm|Testis Neoplasms|Testis Tumor, Rete|Testis Tumors, Rete|Tumor of Rete Testis|Tumors, Testicular|Tumor, Testicular Cancer|Endocrine system disease|Urogenital disease (male) Tetanus MESH:D013742 DO:DOID:11338 A disease caused by tetanospasmin, a powerful protein toxin produced by CLOSTRIDIUM TETANI. Tetanus usually occurs after an acute injury, such as a puncture wound or laceration. Generalized tetanus, the most common form, is characterized by tetanic muscular contractions and hyperreflexia. Localized tetanus presents itself as a mild condition with manifestations restricted to muscles near the wound. It may progress to the generalized form. MESH:D003015 C01.150.252.410.222.864 C01.150.252.410.222 Clostridium tetani Infection|Clostridium tetani Infections|Infection, Clostridium tetani|Infections, Clostridium tetani Bacterial infection or mycosis Tetany MESH:D013746 A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. Tetany usually results from HYPOCALCEMIA or reduced serum levels of MAGNESIUM that may be associated with HYPERVENTILATION; HYPOPARATHYROIDISM; RICKETS; UREMIA; or other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1490) MESH:D006996|MESH:D020879 C10.597.613.875|C18.452.174.509.700|C23.888.592.608.875 C10.597.613|C18.452.174.509|C23.888.592.608 Neonatal Tetanies|Neonatal Tetany|Spasmophilia|Spasmophilias|Tetanies|Tetanies, Neonatal|Tetanilla|Tetanillas|Tetany, Neonatal Metabolic disease|Nervous system disease|Signs and symptoms Tetra-amelia autosomal recessive MESH:C536498 OMIM:273395 MESH:D004480 C05.660.585.350/C536498|C16.131.621.585.350/C536498 C05.660.585.350|C16.131.621.585.350 Autosomal recessive tetra-amelia|TETAMS1|Tetra-Amelia|Tetraamelia, Autosomal Recessive|Tetra-Amelia, Autosomal Recessive|Tetra-Amelia Syndrome|TETRAAMELIA SYNDROME 1|TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE Congenital abnormality|Musculoskeletal disease Tetraamelia multiple malformations MESH:C536500 MESH:D000015|MESH:D004480 C05.660.585.350/C536500|C16.131.077/C536500|C16.131.621.585.350/C536500 C05.660.585.350|C16.131.077|C16.131.621.585.350 Zimmer phocomelia|Zimmer Taub Sova syndrome Congenital abnormality|Musculoskeletal disease Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities MESH:C536496 MESH:D002658|MESH:D004476|MESH:D004480 C05.660.585.350/C536496|C16.131.077.350/C536496|C16.131.621.585.350/C536496|C16.131.831.350/C536496|C16.320.850.250/C536496|C17.800.804.350/C536496|C17.800.827.250/C536496|F03.625.421/C536496 C05.660.585.350|C16.131.077.350|C16.131.621.585.350|C16.131.831.350|C16.320.850.250|C17.800.804.350|C17.800.827.250|F03.625.421 Absence of all four limbs with ectodermal dysplasia and lacrimal duct abnormalities|Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Skin disease Tetra-amelia with pulmonary hypoplasia MESH:C536499 MESH:D000015|MESH:D004480|MESH:D008171 C05.660.585.350/C536499|C08.381/C536499|C16.131.077/C536499|C16.131.621.585.350/C536499 C05.660.585.350|C08.381|C16.131.077|C16.131.621.585.350 Absence of upper and lower limbs with pulmonary hypoplasia|Syndrome of tetraamelia with pulmonary hypoplasia Congenital abnormality|Musculoskeletal disease|Respiratory tract disease Tetralogy of Fallot MESH:D013771 DO:DOID:6419|OMIM:187500 A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS. MESH:D006330 C14.240.400.849|C14.280.400.849|C16.131.240.400.849 C14.240.400|C14.280.400|C16.131.240.400 Fallot's Tetralogy|Fallots Tetralogy|Fallot Tetralogy|Tetralogy, Fallot|Tetralogy, Fallot's|Tetralogy, Fallots|TOF Cardiovascular disease|Congenital abnormality Tetralogy of fallot and glaucoma MESH:C536501 MESH:D005901|MESH:D013771 C11.525.381/C536501|C14.240.400.849/C536501|C14.280.400.849/C536501|C16.131.240.400.849/C536501 C11.525.381|C14.240.400.849|C14.280.400.849|C16.131.240.400.849 Familial tetralogy of fallot and glaucoma Cardiovascular disease|Congenital abnormality|Eye disease Tetralogy Of Fallot Syndrome, Autosomal Recessive MESH:C565314 MESH:D013771 C14.240.400.849/C565314|C14.280.400.849/C565314|C16.131.240.400.849/C565314 C14.240.400.849|C14.280.400.849|C16.131.240.400.849 Cardiovascular disease|Congenital abnormality Tetramelic Monodactyly MESH:C566066 MESH:D017880 C05.660.585/C566066|C16.131.621.585/C566066 C05.660.585|C16.131.621.585 Congenital abnormality|Musculoskeletal disease Tetraphocomelia-Thrombocytopenia Syndrome MESH:C564771 MESH:D004480|MESH:D013921 C05.660.585.350/C564771|C15.378.140.855/C564771|C16.131.621.585.350/C564771 C05.660.585.350|C15.378.140.855|C16.131.621.585.350 Blood disease|Congenital abnormality|Musculoskeletal disease Tetraploidy MESH:D057891 The presence of four sets of chromosomes. It is associated with ABNORMALITIES, MULTIPLE; and MISCARRAGES. MESH:D011123 C23.550.210.702.249 C23.550.210.702 Tetraploid|Tetraploidies|Tetraploids Pathology (process) Tetrasomy MESH:D058670 The possession of four chromosomes of any one type in an otherwise diploid cell. MESH:D000782|MESH:D058674 C23.550.210.050.625|C23.550.210.182.249 C23.550.210.050|C23.550.210.182 Partial Tetrasomies|Partial Tetrasomy|Tetrasomies|Tetrasomies, Partial|Tetrasomy, Partial Pathology (process) Tetrasomy X MESH:C536502 MESH:D008607|MESH:D012729|MESH:D019465 C05.660.207/C536502|C10.597.606.360/C536502|C16.131.621.207/C536502|C23.550.210.815/C536502|C23.888.592.604.646/C536502|F03.625.539/C536502 C05.660.207|C10.597.606.360|C16.131.621.207|C23.550.210.815|C23.888.592.604.646|F03.625.539 48 XXXX|48 XXXX syndrome Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Thai Symphalangism Syndrome MESH:C564303 MESH:D000848|MESH:D007592|MESH:D017689 C05.550/C564303|C05.660.585.600/C564303|C07.650.800.100/C564303|C07.793.700.100/C564303|C16.131.621.585.600/C564303|C16.131.850.800.100/C564303 C05.550|C05.660.585.600|C07.650.800.100|C07.793.700.100|C16.131.621.585.600|C16.131.850.800.100 Congenital abnormality|Mouth disease|Musculoskeletal disease Thakker Donnai syndrome MESH:C536503 MESH:D000015|MESH:D009133|MESH:D019066 C10.597.613.612/C536503|C16.131.077/C536503|C23.300.070.500/C536503|C23.550.291.812/C536503|C23.888.592.608.612/C536503 C10.597.613.612|C16.131.077|C23.300.070.500|C23.550.291.812|C23.888.592.608.612 Dysmorphic facial features and multiple structural abnormalities|Dysmorphism multiple structural anomalies Congenital abnormality|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms Thalamic degeneration symmetrical infantile MESH:C536504 MESH:D013786 C10.228.140.915/C536504 C10.228.140.915 Symmetrical infantile thalamic degeneration|Thalamic Degeneration, Symmetric Infantile Nervous system disease Thalamic Diseases MESH:D013786 DO:DOID:4662 Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, MOVEMENT DISORDERS; ATAXIA, pain syndromes, visual disorders, a variety of neuropsychological conditions, and COMA. Relatively common etiologies include CEREBROVASCULAR DISORDERS; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; BRAIN HYPOXIA; INTRACRANIAL HEMORRHAGES; and infectious processes. MESH:D001927 C10.228.140.915 C10.228.140 Dejerine Roussy Syndrome|Dejerine-Roussy Syndrome|Diseases, Thalamic|Disease, Thalamic|Syndrome, Dejerine-Roussy|Syndromes, Thalamic|Syndrome, Thalamic|Thalamic Disease|Thalamic Syndrome|Thalamic Syndromes Nervous system disease Thalassemia MESH:D013789 DO:DOID:10241 A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia. MESH:D000745|MESH:D006453 C15.378.071.141.150.875|C15.378.420.826|C16.320.070.875|C16.320.365.826 C15.378.071.141.150|C15.378.420|C16.320.070|C16.320.365 Thalassemias Blood disease|Genetic disease (inborn) Thalassemia, Beta+, Silent Allele MESH:C566065 MESH:D017086 C15.378.071.141.150.875.150/C566065|C15.378.420.826.150/C566065|C16.320.070.875.150/C566065|C16.320.365.826.150/C566065 C15.378.071.141.150.875.150|C15.378.420.826.150|C16.320.070.875.150|C16.320.365.826.150 Blood disease|Genetic disease (inborn) Thanatophoric Dysplasia MESH:D013796 DO:DOID:13481 A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period. MESH:D000130|MESH:D007232|MESH:D017880 C05.116.099.343.110.500|C05.116.099.708.017.500|C05.660.585.984|C16.131.621.585.984|C16.320.240.500.500|C16.614.890 C05.116.099.343.110|C05.116.099.708.017|C05.660.585|C16.131.621.585|C16.320.240.500|C16.614 Dwarfisms, Thanatophoric|Dwarfism, Thanatophoric|Dysplasias, Thanatophoric|Dysplasia, Thanatophoric|Thanatophoric Dwarfism|Thanatophoric Dwarfisms|Thanatophoric Dysplasias|Thanatophoric Short Stature Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease Thanatophoric dysplasia Glasgow variant MESH:C536506 MESH:D013796 C05.116.099.343.110.500/C536506|C05.116.099.708.017.500/C536506|C05.660.585.984/C536506|C16.131.621.585.984/C536506|C16.320.240.500.500/C536506|C16.614.890/C536506 C05.116.099.343.110.500|C05.116.099.708.017.500|C05.660.585.984|C16.131.621.585.984|C16.320.240.500.500|C16.614.890 Neonatally lethal short-limb skeletal dysplasia, glasgow type|Thanatophoric Dysplasia, Glasgow Variant Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease Thanatophoric dysplasia, type 2 MESH:C536508 OMIM:187601 MESH:D013796 C05.116.099.343.110.500/C536508|C05.116.099.708.017.500/C536508|C05.660.585.984/C536508|C16.131.621.585.984/C536508|C16.320.240.500.500/C536508|C16.614.890/C536508 C05.116.099.343.110.500|C05.116.099.708.017.500|C05.660.585.984|C16.131.621.585.984|C16.320.240.500.500|C16.614.890 Cloverleaf skull with thanatophoric dwarfism|TD2|Thanatophoric Dysplasia, Type Ii|Thanatophoric dysplasia with Kleeblattschaedel|Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease Thanatophoric Dysplasia, Type I MESH:C566844 OMIM:187600 MESH:D013796 C05.116.099.343.110.500/C566844|C05.116.099.708.017.500/C566844|C05.660.585.984/C566844|C16.131.621.585.984/C566844|C16.320.240.500.500/C566844|C16.614.890/C566844 C05.116.099.343.110.500|C05.116.099.708.017.500|C05.660.585.984|C16.131.621.585.984|C16.320.240.500.500|C16.614.890 Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type|Platyspondylic Lethal Skeletal Dysplasia, San Diego Type|TD|TD1|THANATOPHORIC DWARFISM|THANATOPHORIC DYSPLASIA Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease THAUVIN-ROBINET-FAIVRE SYNDROME OMIM:617107 MESH:D006130|MESH:D011596|MESH:D058627 C05.660.207.536/617107|C10.500.507.400.249/617107|C10.597.606.881/617107|C16.131.621.207.532/617107|C16.131.666.507.400.249/617107|C23.550.393/617107|C23.888.592.604.882/617107 C05.660.207.536|C10.500.507.400.249|C10.597.606.881|C16.131.621.207.532|C16.131.666.507.400.249|C23.550.393|C23.888.592.604.882 TROFAS Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Thecoma MESH:D013798 A gonadal stromal neoplasm composed only of THECA CELLS, occurring mostly in the postmenopausal OVARY. It is filled with lipid-containing spindle cells and produces ESTROGENS that can lead to ENDOMETRIAL HYPERPLASIA; UTERINE HEMORRHAGE; or other malignancies in postmenopausal women and sexual precocity in girls. When tumors containing theca cells also contain FIBROBLASTS, they are identified as thecoma-fibroma tumors with less active hormone production. MESH:D010051|MESH:D018312 C04.557.475.750.875|C04.588.322.455.765|C12.050.351.500.056.630.705.765|C12.050.351.937.418.685.765|C12.100.250.056.630.705.765|C12.900.418.685.765|C19.344.410.765|C19.391.630.705.765 C04.557.475.750|C04.588.322.455|C12.050.351.500.056.630.705|C12.050.351.937.418.685|C12.100.250.056.630.705|C12.900.418.685|C19.344.410|C19.391.630.705 Theca Cell Tumor|Theca Cell Tumors|Thecomas|Tumors, Theca Cell|Tumor, Theca Cell Cancer|Endocrine system disease|Urogenital disease (female) Theileriasis MESH:D013801 DO:DOID:3733 Infection of cattle, sheep, or goats with protozoa of the genus THEILERIA. This infection results in an acute or chronic febrile condition. MESH:D002418|MESH:D011528|MESH:D011529|MESH:D017282 C01.610.701.688.735|C01.610.752.625.735|C01.610.752.750|C01.920.930.915|C22.196.831|C22.674.710.735 C01.610.701.688|C01.610.752|C01.610.752.625|C01.920.930|C22.196|C22.674.710 Coast Fever, East|Corridor Disease|Disease, Corridor|East Coast Fever|Fever, East Coast|Theileriases|Theilerioses|Theileriosis Animal disease|Parasitic disease Theodor Hertz Goodman syndrome MESH:C536509 MESH:D006130 C23.550.393/C536509 C23.550.393 Symphalangism, short stature, skeletal anomalies, and accessory testis Pathology (process) Thiamine Deficiency MESH:D013832 A nutritional condition produced by a deficiency of THIAMINE in the diet, characterized by anorexia, irritability, and weight loss. Later, patients experience weakness, peripheral neuropathy, headache, and tachycardia. In addition to being caused by a poor diet, thiamine deficiency in the United States most commonly occurs as a result of alcoholism, since ethanol interferes with thiamine absorption. In countries relying on polished rice as a dietary staple, BERIBERI prevalence is very high. (From Cecil Textbook of Medicine, 19th ed, p1171) MESH:D014804 C18.654.521.500.133.699.827 C18.654.521.500.133.699 Deficiencies, Thiamine|Deficiency, Thiamine|Thiamine Deficiencies Nutrition disorder THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) OMIM:613710 MESH:D008661|MESH:D011115|MESH:D020955 C10.177.575.550.875/613710|C10.228.140.079.612.800/613710|C10.228.662.550.800/613710|C10.668.829.800/613710|C16.320.565/613710|C18.452.648/613710 C10.177.575.550.875|C10.228.140.079.612.800|C10.228.662.550.800|C10.668.829.800|C16.320.565|C18.452.648 BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY|STRIATAL NECROSIS, BILATERAL, AND PROGRESSIVE POLYNEUROPATHY|THMD4 Genetic disease (inborn)|Metabolic disease|Nervous system disease THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) OMIM:614458 MESH:D020739 C10.228.140.163.100/614458|C16.320.565.189/614458|C18.452.132.100/614458|C18.452.648.189/614458 C10.228.140.163.100|C16.320.565.189|C18.452.132.100|C18.452.648.189 ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY|THMD5 Genetic disease (inborn)|Metabolic disease|Nervous system disease Thiamine responsive megaloblastic anemia syndrome MESH:C536510 DO:DOID:0090117|OMIM:249270 MESH:D000749|MESH:D003920|MESH:D006319|MESH:D013832 C09.218.458.341.887/C536510|C10.597.751.418.341.887/C536510|C15.378.071.252.196/C536510|C18.452.394.750/C536510|C18.654.521.500.133.699.827/C536510|C19.246/C536510|C23.888.592.763.393.341.887/C536510 C09.218.458.341.887|C10.597.751.418.341.887|C15.378.071.252.196|C18.452.394.750|C18.654.521.500.133.699.827|C19.246|C23.888.592.763.393.341.887 Abboud syndrome|Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness|Rogers syndrome|THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE)|Thiamine-Responsive Anemia Syndrome|Thiamine-Responsive Megaloblastic Anemia Syndrome|Thiamine responsive myelodysplasia|Thiamine-Responsive Myelodysplasia|THMD1|TRMA Blood disease|Ear-nose-throat disease|Endocrine system disease|Metabolic disease|Nervous system disease|Nutrition disorder|Signs and symptoms Thinness MESH:D013851 A state of insufficient flesh on the body usually defined as having a body weight less than skeletal and physical standards, such as BODY MASS INDEX, and dependent on age, sex, and genetic background. MESH:D001835 C23.888.144.828 C23.888.144 Leanness|Underweight Signs and symptoms Thiopurine S methyltranferase deficiency MESH:C536512 DO:DOID:0080172|OMIM:610460 MESH:D004342|MESH:D011686 C16.320.565.798/C536512|C18.452.648.798/C536512|C25.100.468/C536512 C16.320.565.798|C18.452.648.798|C25.100.468 6 alpha mercaptopurine sensitivity|Thiopurine methyltransferase deficiency|Thiopurine S-Methyltransferase Deficiency|Thiopurines, poor metabolism of|THIOPURINES, POOR METABOLISM OF, 1|THPM1|TPMTD|TPMT deficiency Genetic disease (inborn)|Metabolic disease THIOPURINES, POOR METABOLISM OF, 2 OMIM:616903 MESH:D011686 C16.320.565.798/616903|C18.452.648.798/616903 C16.320.565.798|C18.452.648.798 NUDT15 DEFICIENCY|THPM2 Genetic disease (inborn)|Metabolic disease THIOUREA TASTING OMIM:171200 MESH:D013651 C10.597.751.861/171200|C23.888.592.763.861/171200 C10.597.751.861|C23.888.592.763.861 PHENYLTHIOCARBAMIDE TASTING, INCLUDED|PROP TASTING, INCLUDED|PROPYLTHIOURACIL TASTING, INCLUDED|PTC TASTING, INCLUDED|THIOT Nervous system disease|Signs and symptoms Thomas Jewett Raines syndrome MESH:C536513 MESH:D000015|MESH:D008850|MESH:D014339|MESH:D019066 C11.250.566/C536513|C14.240.400.560.098.500/C536513|C14.280.400.560.098.500/C536513|C16.131.077/C536513|C16.131.240.400.560.098.500/C536513|C16.131.384.666/C536513|C23.550.291.812/C536513 C11.250.566|C14.240.400.560.098.500|C14.280.400.560.098.500|C16.131.077|C16.131.240.400.560.098.500|C16.131.384.666|C23.550.291.812 Cardiovascular disease|Congenital abnormality|Eye disease|Pathology (process) Thomas syndrome MESH:C536514 MESH:D000015|MESH:D002971|MESH:D006330 C07.465.409.225/C536514|C07.465.525.164/C536514|C07.650.525.164/C536514|C14.240.400/C536514|C14.280.400/C536514|C16.131.077/C536514|C16.131.240.400/C536514|C16.131.850.525.164/C536514 C07.465.409.225|C07.465.525.164|C07.650.525.164|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.850.525.164 Cardiovascular disease|Congenital abnormality|Mouth disease Thompson Baraitser syndrome MESH:C536515 MESH:D011625|MESH:D012131 C08.618.846/C536515|C11.187.781/C536515 C08.618.846|C11.187.781 Eye disease|Respiratory tract disease Thoracic Diseases MESH:D013896 Disorders affecting the organs of the thorax. MESH:D012140 C08.846 C08 Diseases, Thoracic|Disease, Thoracic|Thoracic Disease Respiratory tract disease Thoracic Dysostosis, Isolated MESH:C566063 MESH:D004413 C05.116.099.370/C566063 C05.116.099.370 Musculoskeletal disease Thoracic Dysplasia-Hydrocephalus Syndrome MESH:C564774 MESH:D006849|MESH:D017880 C05.660.585/C564774|C10.228.140.602/C564774|C16.131.621.585/C564774 C05.660.585|C10.228.140.602|C16.131.621.585 Congenital abnormality|Musculoskeletal disease|Nervous system disease Thoracic Injuries MESH:D013898 General or unspecified injuries to the chest area. MESH:D014947 C26.891 C26 Chest Injuries|Chest Injury|Injuries, Chest|Injuries, Thoracic|Injury, Chest|Injury, Thoracic|Thoracic Injury Wounds and injuries Thoracic Neoplasms MESH:D013899 DO:DOID:5093 New abnormal growth of tissue in the THORAX. MESH:D009371 C04.588.894 C04.588 Neoplasms, Thoracic|Neoplasm, Thoracic|Thoracic Neoplasm Cancer Thoracic Outlet Syndrome MESH:D013901 DO:DOID:3103 A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5). MESH:D009408|MESH:D014652 C10.668.829.550.850|C14.907.863 C10.668.829.550|C14.907 Aperture Syndrome, Thoracic Outlet|Arterial Thoracic Outlet Syndrome|Costoclavicular Syndrome|Costoclavicular Syndromes|Nerve Compression Syndrome, Thoracic Outlet|Neurogenic Thoracic Outlet Syndrome|Neurologic Syndrome, Thoracic Outlet|Neurovascular Syndrome, Thoracic Outlet|Outlet Syndromes, Thoracic|Outlet Syndrome, Thoracic|Scalenus Anticus Syndrome|Superior Thoracic Aperture Syndrome|Syndrome, Costoclavicular|Syndrome, Scalenus Anticus|Syndromes, Costoclavicular|Syndromes, Thoracic Outlet|Syndrome, Thoracic Outlet|Thoracic Outlet Nerve Compression Syndrome|Thoracic Outlet Neurologic Syndrome|Thoracic Outlet Neurovascular Syndrome|Thoracic Outlet Syndrome, Neurogenic|Thoracic Outlet Syndromes|Venous Thoracic Outlet Syndrome Cardiovascular disease|Nervous system disease Thoracolaryngopelvic dysplasia MESH:C536517 MESH:D000015|MESH:D001238|MESH:D010009 C05.116.099.708/C536517|C16.131.077/C536517|C16.320.728/C536517|C16.614.092/C536517 C05.116.099.708|C16.131.077|C16.320.728|C16.614.092 Autosomal dominant thoracolaryngopelvic dysplasia|Barnes syndrome Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease Thoraco limb dysplasia Rivera type MESH:C536516 MESH:D004392|MESH:D017880 C05.116.099.343/C536516|C05.660.585/C536516|C16.131.621.585/C536516|C16.320.240/C536516|C19.297/C536516 C05.116.099.343|C05.660.585|C16.131.621.585|C16.320.240|C19.297 Rivera Perez Salas syndrome Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Thoracomelic Dysplasia MESH:C564773 MESH:D004392|MESH:D017880 C05.116.099.343/C564773|C05.660.585/C564773|C16.131.621.585/C564773|C16.320.240/C564773|C19.297/C564773 C05.116.099.343|C05.660.585|C16.131.621.585|C16.320.240|C19.297 Thoraco-Limb Dysplasia Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Thoracopelvic Dysostosis MESH:C566062 MESH:D004413 C05.116.099.370/C566062 C05.116.099.370 Musculoskeletal disease Three M Syndrome 2 MESH:C567862 OMIM:612921 MESH:D004392|MESH:D009123 C05.116.099.343/C567862|C10.597.613.575/C567862|C16.320.240/C567862|C19.297/C567862|C23.888.592.608.575/C567862 C05.116.099.343|C10.597.613.575|C16.320.240|C19.297|C23.888.592.608.575 3M2|3M SYNDROME 2 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Thrombasthenia MESH:D013915 DO:DOID:2219|OMIM:273800 A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction. Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX). MESH:D001791|MESH:D006474|MESH:D025861 C15.378.100.100.820|C15.378.140.810|C15.378.463.810|C16.320.099.820 C15.378.100.100|C15.378.140|C15.378.463|C16.320.099 BDPLT2|BLEEDING DISORDER, PLATELET-TYPE, 2|Deficiency of GP 2b 3a Complex|Glanzmann Thrombasthenia|GLANZMANN THROMBASTHENIA 1|Glanzmann Thrombasthenia, Type A|GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY|Glycoprotein Complex IIb IIIa, Deficiency Of|Glycoprotein Complex IIb-IIIa, Deficiency Of|GP IIb-IIIa COMPLEX DEFICIENCY|GP IIb IIIa Complex, Deficiency Of|GP IIb-IIIa Complex, Deficiency Of|GT|GT1|PLATELET FIBRINOGEN RECEPTOR DEFICIENCY|Platelet Fibrinogen Receptor, Deficiency of|Platelet Glycoprotein 2b 3a Deficiency|Platelet Glycoprotein 2b-3a Deficiency|Platelet Glycoprotein IIb IIIa Deficiency|Platelet Glycoprotein IIb-IIIa Deficiency|Thrombasthenia, Glanzmann|Thrombasthenia of Glanzmann and Naegeli|Thrombasthenias Blood disease|Genetic disease (inborn) Thrombasthenia-Thrombocytopenia, Hereditary MESH:C566060 OMIM:187900 MESH:D013915|MESH:D013921 C15.378.100.100.820/C566060|C15.378.140.810/C566060|C15.378.140.855/C566060|C15.378.463.810/C566060|C16.320.099.820/C566060 C15.378.100.100.820|C15.378.140.810|C15.378.140.855|C15.378.463.810|C16.320.099.820 BDPLT17|BLEEDING DISORDER, PLATELET-TYPE, 17|THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY Blood disease|Genetic disease (inborn) Thromboangiitis Obliterans MESH:D013919 DO:DOID:12918 A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking. MESH:D001157|MESH:D014657 C14.907.137.870|C14.907.940.905 C14.907.137|C14.907.940 Buerger Disease|Buerger's Disease|Buergers Disease|Disease, Buerger|Disease, Buerger's|Thromboangitis Obliterans Cardiovascular disease Thrombocythemia, Essential MESH:D013920 DO:DOID:2224 A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets. MESH:D001778|MESH:D006474|MESH:D013922 C15.378.100.832|C15.378.140.860.800|C15.378.190.636.860.800|C15.378.463.825 C15.378.100|C15.378.140.860|C15.378.190.636.860|C15.378.463 Autosomal Dominant Thrombocytoses|Autosomal Dominant Thrombocytosis|Dominant Thrombocytoses, Autosomal|Dominant Thrombocytosis, Autosomal|Essential Thrombocythemia|Essential Thrombocythemias|Hemorrhagic Thrombocythemia|Hemorrhagic Thrombocythemias|Idiopathic Thrombocythemia|Idiopathic Thrombocythemias|Primary Thrombocythemia|Primary Thrombocythemias|Primary Thrombocytoses|Primary Thrombocytosis|Thrombocythemia, Hemorrhagic|Thrombocythemia, Idiopathic|Thrombocythemia, Primary|Thrombocythemias, Essential|Thrombocythemias, Hemorrhagic|Thrombocythemias, Idiopathic|Thrombocythemias, Primary|Thrombocytoses, Autosomal Dominant|Thrombocytoses, Primary|Thrombocytosis, Autosomal Dominant|Thrombocytosis, Primary Blood disease Thrombocytopenia MESH:D013921 DO:DOID:1588 A subnormal level of BLOOD PLATELETS. MESH:D001791 C15.378.140.855 C15.378.140 Thrombocytopenias|Thrombopenia|Thrombopenias Blood disease Thrombocytopenia 1 MESH:C564052 OMIM:313900 MESH:D013921|MESH:D040181 C15.378.140.855/C564052|C16.320.322/C564052 C15.378.140.855|C16.320.322 THC|THC1|Thrombocytopenia, X-Linked|Thrombocytopenia, X-Linked, 1|THROMBOCYTOPENIA, X-LINKED, 1 THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, INCLUDED|X-Linked Thrombocytopenia|XLT Blood disease|Genetic disease (inborn) THROMBOCYTOPENIA 2 OMIM:188000 DO:DOID:1588 MESH:D013921 C15.378.140.855/188000 C15.378.140.855 THC2|THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2 Blood disease Thrombocytopenia 3 MESH:C567487 OMIM:273900 MESH:D013921 C15.378.140.855/C567487 C15.378.140.855 THC3|Thrombocytopenia, Autosomal Recessive, 3 Blood disease Thrombocytopenia 4 MESH:C567438 OMIM:612004 MESH:D013921 C15.378.140.855/C567438 C15.378.140.855 THC4|Thrombocytopenia, Autosomal Dominant, 4 Blood disease THROMBOCYTOPENIA 5 OMIM:616216 MESH:D013921 C15.378.140.855/616216 C15.378.140.855 THC5|THROMBOCYTOPENIA 5 WITH INCREASED SUSCEPTIBILITY TO MALIGNANCY|THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5 Blood disease THROMBOCYTOPENIA 6 OMIM:616937 MESH:D013921 C15.378.140.855/616937 C15.378.140.855 THC6|THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 6 Blood disease Thrombocytopenia absent ulnar syndrome MESH:C536944 MESH:D013921 C15.378.140.855/C536944 C15.378.140.855 Blood disease THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS OMIM:617441 MESH:C536848|MESH:D000740|MESH:D013921 C15.378.071/617441|C15.378.140.855/617441|C15.378.190.636.765/C536848/617441 C15.378.071|C15.378.140.855|C15.378.190.636.765/C536848 THAMY Blood disease Thrombocytopenia chromosome breakage MESH:C536519 MESH:D013921|MESH:D019457|MESH:D025063 C15.378.140.855/C536519|C16.131.260/C536519|C16.320.180/C536519|C23.550.210.170/C536519 C15.378.140.855|C16.131.260|C16.320.180|C23.550.210.170 Helmerhorst Heaton Crossen syndrome|Thrombocytopenia 2|Thrombocytopenia, autosomal dominant|Thrombocytopenia, Autosomal Dominant, 2 Blood disease|Congenital abnormality|Genetic disease (inborn)|Pathology (process) Thrombocytopenia, cyclic MESH:C536899 MESH:D013921 C15.378.140.855/C536899 C15.378.140.855 Blood disease Thrombocytopenia, Neonatal Alloimmune MESH:D054098 A condition in newborns caused by immunity of the mother to PLATELET ALLOANTIGENS on the fetal platelets. The PLATELETS, coated with maternal ANTIBODIES, are destroyed and removed by the fetal MONONUCLEAR PHAGOCYTE SYSTEM. Affected infants may have INTRACRANIAL HEMORRHAGES. MESH:D007232|MESH:D013921 C15.378.140.855.850|C16.614.899 C15.378.140.855|C16.614 Alloimmune Thrombocytopenia, Neonatal|Alloimmune Thrombocytopenias, Neonatal|Neonatal Alloimmune Thrombocytopenia|Neonatal Alloimmune Thrombocytopenias|Neonatal Thrombocytopenia|Neonatal Thrombocytopenias|Thrombocytopenia, Neonatal|Thrombocytopenias, Neonatal|Thrombocytopenias, Neonatal Alloimmune Blood disease|Infant-newborn disease Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis MESH:C564050 DO:DOID:0111767|OMIM:314050 MESH:D006461|MESH:D013921|MESH:D017086|MESH:D040181 C15.378.071.141.150.875.150/C564050|C15.378.140.855/C564050|C15.378.420.826.150/C564050|C16.320.070.875.150/C564050|C16.320.322/C564050|C16.320.365.826.150/C564050|C23.550.403/C564050 C15.378.071.141.150.875.150|C15.378.140.855|C15.378.420.826.150|C16.320.070.875.150|C16.320.322|C16.320.365.826.150|C23.550.403 THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS|Thrombocytopenia with Beta-Thalassemia, X-Linked|XLTT Blood disease|Genetic disease (inborn)|Pathology (process) Thrombocytopenia Robin sequence MESH:C536898 MESH:D006130|MESH:D010855|MESH:D013921|MESH:D019066|MESH:D061085 C05.500.460.606/C536898|C05.660.207.540.460.606/C536898|C07.320.440.606/C536898|C07.650.500.460.606/C536898|C10.500.034/C536898|C15.378.140.855/C536898|C16.131.621.207.540.460.606/C536898|C16.131.666.034/C536898|C16.131.850.500.460.606/C536898|C23.300.008/C536898|C23.550.291.812/C536898|C23.550.393/C536898 C05.500.460.606|C05.660.207.540.460.606|C07.320.440.606|C07.650.500.460.606|C10.500.034|C15.378.140.855|C16.131.621.207.540.460.606|C16.131.666.034|C16.131.850.500.460.606|C23.300.008|C23.550.291.812|C23.550.393 Braddock Carey syndrome Blood disease|Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process) Thrombocytopenia with Elevated Serum Iga and Renal Disease MESH:C564051 MESH:D007674|MESH:D013921 C12.050.351.968.419/C564051|C12.200.777.419/C564051|C12.950.419/C564051|C15.378.140.855/C564051 C12.050.351.968.419|C12.200.777.419|C12.950.419|C15.378.140.855 Blood disease|Urogenital disease (female)|Urogenital disease (male) Thrombocytopenia, X-Linked, Intermittent MESH:C564053 MESH:D013921|MESH:D040181 C15.378.140.855/C564053|C16.320.322/C564053 C15.378.140.855|C16.320.322 Blood disease|Genetic disease (inborn) THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA OMIM:300367 DO:DOID:1588 MESH:D000742|MESH:D013921 C15.378.071.141.150.095/300367|C15.378.140.855/300367|C16.320.070.095/300367 C15.378.071.141.150.095|C15.378.140.855|C16.320.070.095 XLTDA Blood disease|Genetic disease (inborn) Thrombocytosis MESH:D013922 DO:DOID:2228|OMIM:187950|OMIM:601977|OMIM:614521 Increased numbers of platelets in the peripheral blood. (Dorland, 27th ed) MESH:D001791|MESH:D009196 C15.378.140.860|C15.378.190.636.860 C15.378.140|C15.378.190.636 THCYT1|THCYT2|THCYT3|Thrombocythemia|THROMBOCYTHEMIA 1|THROMBOCYTHEMIA 2|THROMBOCYTHEMIA 3|Thrombocythemias|Thrombocytoses|THROMBOCYTOSIS 1|THROMBOCYTOSIS 3 Blood disease Thrombocytosis, Benign Familial Microcytic MESH:C566596 MESH:D013922 C15.378.140.860/C566596|C15.378.190.636.860/C566596 C15.378.140.860|C15.378.190.636.860 Blood disease Thrombocytosis, Familial X-Linked MESH:C564532 MESH:D013922|MESH:D040181 C15.378.140.860/C564532|C15.378.190.636.860/C564532|C16.320.322/C564532 C15.378.140.860|C15.378.190.636.860|C16.320.322 Blood disease|Genetic disease (inborn) Thromboembolism MESH:D013923 Obstruction of a blood vessel (embolism) by a blood clot (THROMBUS) in the blood stream. MESH:D016769 C14.907.355.590 C14.907.355 Thromboembolisms Cardiovascular disease Thromboinflammation MESH:D000090882 Thrombosis with associated inflammation due to crosstalk between HEMOSTASIS and INNATE IMMUNE RESPONSES modulated by PLATELETS. It is associated with many diseases such as COVID-19; SICKLE CELL ANEMIA; and THROMBOPHLEBITIS. MESH:D001778|MESH:D007249|MESH:D013927 C14.907.355.830.749|C15.378.100.876|C23.550.470.895 C14.907.355.830|C15.378.100|C23.550.470 Immunothrombosis Blood disease|Cardiovascular disease|Pathology (process) Thrombomodulin anomalies, familial MESH:C536900 MESH:D019851 C15.378.925/C536900 C15.378.925 Blood disease Thrombophilia MESH:D019851 DO:DOID:2452|OMIM:188050 A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS. MESH:D006402 C15.378.925 C15.378 Hypercoagulabilities|Hypercoagulability|THPH1|THROMBOPHILIA DUE TO FACTOR 2 DEFECT|THROMBOPHILIA DUE TO THROMBIN DEFECT|Thrombophilias|VENOUS THROMBOEMBOLISM THROMBOSIS, PROTECTION AGAINST, INCLUDED|VENOUS THROMBOSIS Blood disease Thrombophilia due to Activated Protein C Resistance MESH:C566056 DO:DOID:0111902|OMIM:188055 MESH:D020016 C15.378.100.100.037/C566056|C15.378.100.141.036/C566056|C15.378.925.050/C566056|C16.320.099.037/C566056 C15.378.100.100.037|C15.378.100.141.036|C15.378.925.050|C16.320.099.037 ACTIVATED PROTEIN C RESISTANCE|APC RESISTANCE|Apc Resistance, Leiden Type|Factor V Leiden Thrombophilia|Hereditary Resistance To Activated Protein C|PCCF DEFICIENCY|PROC COFACTOR DEFICIENCY|Protein C Cofactor Deficiency|THPH2|Thrombophilia due to Deficiency of Activated Protein C Cofactor|Thrombophilia due to Factor V Leiden|Thrombophilia V|THROMBOPHILIA V THROMBOPHILIA DUE TO FACTOR V LEIDEN, INCLUDED Blood disease|Genetic disease (inborn) Thrombophilia Due To Elevated Histidine-Rich Glycoprotein MESH:C567737 OMIM:613116 MESH:D019851 C15.378.925/C567737 C15.378.925 THPH11|THROMBOPHILIA DUE TO ELEVATED HISTIDINE-RICH GLYCOPROTEIN, INCLUDED|Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency Blood disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE OMIM:612304 DO:DOID:0111904 MESH:C535424 C15.378.100.100.690/C535424/612304|C15.378.147.880/C535424/612304|C15.378.925.795/C535424/612304|C16.320.099.690/C535424/612304 C15.378.100.100.690/C535424|C15.378.147.880/C535424|C15.378.925.795/C535424|C16.320.099.690/C535424 PROC DEFICIENCY, AUTOSOMAL RECESSIVE|PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE|THPH4 Blood disease|Genetic disease (inborn) Thrombophilia due to Thrombomodulin Defect MESH:C566057 DO:DOID:0111908|OMIM:614486 MESH:D019851 C15.378.925/C566057 C15.378.925 THPH12 Blood disease Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator MESH:C567341 DO:DOID:0111906 MESH:D019851 C15.378.925/C567341 C15.378.925 Hyperfibrinolysis, Familial, Due To Increased Release Of Tissue Plasminogen Activator Blood disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN OMIM:612348 DO:DOID:0111906 MESH:D019851 C15.378.925/612348 C15.378.925 ACTIVATOR, INCLUDED Blood disease Thrombophilia, hereditary MESH:C540694 MESH:D019851 C15.378.925/C540694 C15.378.925 Blood disease Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant MESH:C567163 DO:DOID:0111909 MESH:D020151 C15.378.100.100.690/C567163|C15.378.147.880/C567163|C15.378.925.795/C567163|C16.320.099.690/C567163 C15.378.100.100.690|C15.378.147.880|C15.378.925.795|C16.320.099.690 PROC Deficiency, Autosomal Dominant|Protein C Deficiency, Autosomal Dominant Blood disease|Genetic disease (inborn) Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive MESH:C567353 DO:DOID:0111904 MESH:D020151 C15.378.100.100.690/C567353|C15.378.147.880/C567353|C15.378.925.795/C567353|C16.320.099.690/C567353 C15.378.100.100.690|C15.378.147.880|C15.378.925.795|C16.320.099.690 PROC Deficiency, Autosomal Recessive|Protein C Deficiency, Autosomal Recessive Blood disease|Genetic disease (inborn) Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant MESH:C567347 OMIM:612336 MESH:D018455 C15.378.100.800/C567347|C15.378.147.890/C567347|C15.378.925.800/C567347 C15.378.100.800|C15.378.147.890|C15.378.925.800 THPH5|THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Blood disease Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive MESH:C567348 OMIM:614514 MESH:D018455 C15.378.100.800/C567348|C15.378.147.890/C567348|C15.378.925.800/C567348 C15.378.100.800|C15.378.147.890|C15.378.925.800 THPH6|THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE Blood disease Thrombophilia, X-Linked, Due To Factor Ix Defect MESH:C567581 DO:DOID:0111899|OMIM:300807 MESH:D019851|MESH:D040181 C15.378.925/C567581|C16.320.322/C567581 C15.378.925|C16.320.322 DEEP VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED|THPH8 Blood disease|Genetic disease (inborn) Thrombophlebitis MESH:D013924 DO:DOID:3875 Inflammation of a vein associated with a blood clot (THROMBUS). MESH:D010689|MESH:D020246 C14.907.355.830.925.770|C14.907.617.718.788|C14.907.940.740.910 C14.907.355.830.925|C14.907.617.718|C14.907.940.740 Dolens, Phlegmasia Alba|Phlegmasia Alba Dolens|Thrombophlebitides Cardiovascular disease Thrombosis MESH:D013927 DO:DOID:0060903 Formation and development of a thrombus or blood clot in the blood vessel. MESH:D016769 C14.907.355.830 C14.907.355 Blood Clot|Blood Clots|Clot, Blood|Clots, Blood|Thromboses|Thrombus Cardiovascular disease Thrombotic Microangiopathies MESH:D057049 Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation. MESH:D013921 C15.378.140.855.925 C15.378.140.855 Microangiopathies, Thrombotic|Microangiopathy, Thrombotic|Thrombotic Microangiopathy Blood disease Thrombotic Stroke MESH:D000083244 A type of ischemic stroke resulting from obstruction due to a BLOOD CLOT formed within in a CEREBRAL ARTERY often associated with ATHEROSCLEROSIS. A stroke due to a blood clot in a cerebral vein is a venous infarction (see VENOUS INFARCTION, BRAIN). MESH:D000083242 C10.228.140.300.775.400.750|C14.907.253.855.400.750 C10.228.140.300.775.400|C14.907.253.855.400 Acute Thrombotic Stroke|Acute Thrombotic Strokes|Stroke, Acute Thrombotic|Stroke, Thrombotic|Thrombotic Stroke, Acute|Thrombotic Strokes Cardiovascular disease|Nervous system disease Thrombotic thrombocytopenic purpura, acquired MESH:C536901 MESH:D011697 C15.378.100.802.687.680/C536901|C15.378.140.855.925.750.680/C536901|C15.378.925.850/C536901|C23.550.414.950.687.680/C536901|C23.888.885.687.687.680/C536901 C15.378.100.802.687.680|C15.378.140.855.925.750.680|C15.378.925.850|C23.550.414.950.687.680|C23.888.885.687.687.680 Idiopathic thrombotic thrombocytopenic purpura|Moschowitz syndrome Blood disease|Pathology (process)|Signs and symptoms Thromboxane Synthetase Deficiency MESH:C562866 OMIM:614158 MESH:D001778|MESH:D001791 C15.378.100/C562866|C15.378.140/C562866 C15.378.100|C15.378.140 BDPLT14|BLEEDING DISORDER, PLATELET-TYPE, 14|THROMBOXANE SYNTHETASE DEFICIENCY Blood disease Thumb Agenesis, Short Stature, And Immunodeficiency MESH:C564770 MESH:D000081207|MESH:D006130 C16.320.798/C564770|C20.673.795/C564770|C23.550.393/C564770 C16.320.798|C20.673.795|C23.550.393 Genetic disease (inborn)|Immune system disease|Pathology (process) Thumb deformity MESH:C536903 MESH:D006226 C05.390/C536903 C05.390 Thumb absent or hypoplastic|Thumb hypoplastic Musculoskeletal disease Thumb deformity, alopecia, pigmentation anomaly MESH:C536904 MESH:D000505|MESH:D000848|MESH:D010859 C07.650.800.100/C536904|C07.793.700.100/C536904|C16.131.850.800.100/C536904|C17.800.329.937.122/C536904|C17.800.621/C536904|C23.300.035/C536904|C23.550.755/C536904 C07.650.800.100|C07.793.700.100|C16.131.850.800.100|C17.800.329.937.122|C17.800.621|C23.300.035|C23.550.755 Congenital deformity of the thumb and congenital alopecia|Hypotrichosis associated with congenital hypoplasia of the thumb Congenital abnormality|Mouth disease|Pathology (anatomical condition)|Pathology (process)|Skin disease Thumb Deformity And Alopecia MESH:C566054 MESH:D000505 C17.800.329.937.122/C566054|C23.300.035/C566054 C17.800.329.937.122|C23.300.035 Pathology (anatomical condition)|Skin disease Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness MESH:C564769 MESH:D003103|MESH:D006130|MESH:D006313 C09.218.458.341.887.432/C564769|C09.218.807.186.432/C564769|C10.228.140.068.432/C564769|C10.597.751.418.341.887.432/C564769|C11.250.110/C564769|C11.270.147/C564769|C16.131.384.282/C564769|C23.550.393/C564769|C23.888.592.763.393.341.887.432/C564769 C09.218.458.341.887.432|C09.218.807.186.432|C10.228.140.068.432|C10.597.751.418.341.887.432|C11.250.110|C11.270.147|C16.131.384.282|C23.550.393|C23.888.592.763.393.341.887.432 Congenital abnormality|Ear-nose-throat disease|Eye disease|Nervous system disease|Pathology (process)|Signs and symptoms Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay MESH:C566053 MESH:D002658|MESH:D059327 C05.660.585.262/C566053|C16.131.621.585.262/C566053|F03.625.421/C566053 C05.660.585.262|C16.131.621.585.262|F03.625.421 Congenital abnormality|Mental disorder|Musculoskeletal disease Thymic aplasia MESH:C536288 MESH:D007153 C20.673/C536288 C20.673 Immune Defect Due To Absence Of Thymus|Nezelof syndrome Immune system disease Thymic Aplasia with Fetal Death MESH:C564768 MESH:D000015|MESH:D005313 C12.050.703.223/C564768|C16.131.077/C564768|C23.550.260.585/C564768 C12.050.703.223|C16.131.077|C23.550.260.585 Congenital abnormality|Pathology (process)|Pregnancy complication Thymic epithelial tumor MESH:C536905 MESH:D009375|MESH:D013953 C04.557.470/C536905|C04.588.894.949/C536905|C15.604.861/C536905 C04.557.470|C04.588.894.949|C15.604.861 Epithelial tumor of thymus|Thymoma, adult Cancer|Lymphatic disease Thymic-Renal-Anal-Lung dysplasia MESH:C536907 MESH:D001006|MESH:D005317 C06.198.050/C536907|C12.050.703.277.370/C536907|C16.131.314.094/C536907|C16.300.390/C536907|C23.550.393.450/C536907 C06.198.050|C12.050.703.277.370|C16.131.314.094|C16.300.390|C23.550.393.450 Congenital abnormality|Digestive system disease|Fetal disease|Pathology (process)|Pregnancy complication Thymoma MESH:D013945 DO:DOID:3275|DO:DOID:3284 A neoplasm originating from thymic tissue, usually benign, and frequently encapsulated. Although it is occasionally invasive, metastases are extremely rare. It consists of any type of thymic epithelial cell as well as lymphocytes that are usually abundant. Malignant lymphomas that involve the thymus, e.g., lymphosarcoma, Hodgkin's disease (previously termed granulomatous thymoma), should not be regarded as thymoma. (From Stedman, 25th ed) MESH:D013953|MESH:D018193 C04.557.435.850|C04.588.894.949.500|C15.604.861.800 C04.557.435|C04.588.894.949|C15.604.861 Carcinomas, Thymic|Carcinoma, Thymic|Thymic Carcinoma|Thymic Carcinomas|Thymomas Cancer|Lymphatic disease Thymoma, Familial MESH:C564767 OMIM:274230 MESH:D013945 C04.557.435.850/C564767|C04.588.894.949.500/C564767|C15.604.861.800/C564767 C04.557.435.850|C04.588.894.949.500|C15.604.861.800 Thymic Neoplasia Cancer|Lymphatic disease Thymus Hyperplasia MESH:D013952 Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486) MESH:D008206 C15.604.816 C15.604 Gland Hyperplasias, Thymus|Gland Hyperplasia, Thymus|Hyperplasia of Thymus Gland|Hyperplasias, Thymic|Hyperplasia, Thymic|Hyperplasia, Thymus|Thymic Hyperplasia|Thymic Hyperplasias|Thymus Gland Hyperplasia|Thymus Gland Hyperplasias Lymphatic disease Thymus Neoplasms MESH:D013953 DO:DOID:3277 Tumors or cancer of the THYMUS GLAND. MESH:D008206|MESH:D013899 C04.588.894.949|C15.604.861 C04.588.894|C15.604 Cancer of the Thymus|Cancer of Thymus|Cancers, Thymic|Cancers, Thymus|Cancer, Thymic|Cancer, Thymus|Neoplasms, Thymic|Neoplasms, Thymus|Neoplasm, Thymic|Neoplasm, Thymus|Thymic Cancer|Thymic Cancers|Thymic Neoplasm|Thymic Neoplasms|Thymic Tumor|Thymic Tumors|Thymus Cancer|Thymus Cancers|Thymus Neoplasm|Thymus Tumor|Thymus Tumors|Tumors, Thymic|Tumors, Thymus|Tumor, Thymic|Tumor, Thymus Cancer|Lymphatic disease Thyrocerebral-retinal syndrome MESH:C536908 MESH:D001927|MESH:D007674|MESH:D013959 C10.228.140/C536908|C12.050.351.968.419/C536908|C12.200.777.419/C536908|C12.950.419/C536908|C19.874/C536908 C10.228.140|C12.050.351.968.419|C12.200.777.419|C12.950.419|C19.874 Thyrocerebroretinal syndrome Endocrine system disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Thyroglossal Cyst MESH:D013955 A cyst in the neck caused by persistence of portions of, or by lack of closure of, the primitive thyroglossal duct. (Dorland, 27th ed) MESH:D003560 C04.182.902 C04.182 Cysts, Thyroglossal|Cysts, Thyroglossal Duct|Cysts, Thyrolingual|Cyst, Thyroglossal|Cyst, Thyroglossal Duct|Cyst, Thyrolingual|Thyroglossal Cysts|Thyroglossal Duct Cyst|Thyroglossal Duct Cysts|Thyrolingual Cyst|Thyrolingual Cysts Cancer Thyroglossal tract cyst MESH:C536909 MESH:D013955 C04.182.902/C536909 C04.182.902 Familial thyroglossal duct cyst|Hereditary thyroglossal duct cysts|Thyroglossal Duct Cyst, Familial|Thyroglossal duct cysts familial Cancer Thyroid Adenoma, Hyperfunctioning MESH:C566386 MESH:D006044|MESH:D013971 C19.874.283.501/C566386|C19.874.397.685/C566386 C19.874.283.501|C19.874.397.685 Thyroid Carcinoma With Thyrotoxicosis Endocrine system disease Thyroid cancer, follicular MESH:C572845 OMIM:188470 MESH:D018263 C04.557.470.200.025.060/C572845 C04.557.470.200.025.060 NMTC2|THYROID CANCER, NONMEDULLARY, 2 Cancer Thyroid cancer, Hurthle cell MESH:C536913 DO:DOID:8161|OMIM:607464 MESH:D013964|MESH:D018249 C04.557.470.035.140/C536913|C04.588.322.894/C536913|C04.588.443.915/C536913|C19.344.894/C536913|C19.874.788/C536913 C04.557.470.035.140|C04.588.322.894|C04.588.443.915|C19.344.894|C19.874.788 Follicular thyroid cancer, Hurthle cell type|Hurthle cell carcinoma of the thyroid|Hurthle Cell Thyroid Neoplasia|Thyroid cancer, follicular, Hurthle cell type|Thyroid carcinoma, Hurthle cell Cancer|Endocrine system disease Thyroid cancer, medullary MESH:C536914 DO:DOID:3973 MESH:D013964|MESH:D018278 C04.557.465.625.650.240/C536914|C04.557.470.200.025.370/C536914|C04.557.580.625.650.240/C536914|C04.588.322.894/C536914|C04.588.443.915/C536914|C19.344.894/C536914|C19.874.788/C536914 C04.557.465.625.650.240|C04.557.470.200.025.370|C04.557.580.625.650.240|C04.588.322.894|C04.588.443.915|C19.344.894|C19.874.788 Medullary thyroid cancer (MTC)|Thyroid carcinoma, medullary Cancer|Endocrine system disease THYROID CANCER, NONMEDULLARY, 4 OMIM:616534 MESH:D013964 C04.588.322.894/616534|C04.588.443.915/616534|C19.344.894/616534|C19.874.788/616534 C04.588.322.894|C04.588.443.915|C19.344.894|C19.874.788 NMTC4 Cancer|Endocrine system disease THYROID CANCER, NONMEDULLARY, 5 OMIM:616535 MESH:D013964 C04.588.322.894/616535|C04.588.443.915/616535|C19.344.894/616535|C19.874.788/616535 C04.588.322.894|C04.588.443.915|C19.344.894|C19.874.788 NMTC5 Cancer|Endocrine system disease Thyroid Cancer, Papillary MESH:D000077273 DO:DOID:3969|OMIM:188550 An ADENOCARCINOMA that originates from follicular cells of the THYROID GLAND and accounts for the majority of THYROID CANCER cases. Cells exhibit enlarged, oval, or elongated morphologies with clear, round, nuclei. Fusions of RET, NTRK1, TPM3, and PCM1 genes are associated with this cancer. MESH:D000231|MESH:D013964 C04.557.470.200.025.085.612|C04.588.322.894.400|C04.588.443.915.400|C19.344.894.400|C19.874.788.400 C04.557.470.200.025.085|C04.588.322.894|C04.588.443.915|C19.344.894|C19.874.788 Cancer, Papillary Thyroid|Cancers, Papillary Thyroid|Carcinoma, Nonmedullary Thyroid|Carcinoma, Papillary Thyroid|Carcinomas, Nonmedullary Thyroid|Carcinomas, Papillary Thyroid|Familial Nonmedullary Thyroid Cancer|FAMILIAL NONMEDULLARY THYROID CANCER, PAPILLARY|NMTC1|Nonmedullary Thyroid Carcinoma|NONMEDULLARY THYROID CARCINOMA, PAPILLARY|Nonmedullary Thyroid Carcinomas|PACT|Papillary Carcinoma Of Thyroid|Papillary Thyroid Cancer|Papillary Thyroid Cancers|Papillary Thyroid Carcinoma|Papillary Thyroid Carcinomas|PTC|THYROID CANCER, NONMEDULLARY, 1|Thyroid Cancers, Papillary|Thyroid Carcinoma, Nonmedullary|Thyroid Carcinoma, Papillary|Thyroid Carcinomas, Nonmedullary|Thyroid Carcinomas, Papillary|TPC Cancer|Endocrine system disease Thyroid Carcinoma, Anaplastic MESH:D065646 An aggressive THYROID GLAND malignancy which generally occurs in IODINE-deficient areas in people with previous thyroid pathology such as GOITER. It is associated with CELL DEDIFFERENTIATION of THYROID CARCINOMA (e.g., FOLLICULAR THYROID CARCINOMA; PAPILLARY THYROID CANCER). Typical initial presentation is a rapidly growing neck mass which upon metastasis is associated with DYSPHAGIA; NECK PAIN; bone pain; DYSPNEA; and NEUROLOGIC DEFICITS. MESH:D002277 C04.557.470.200.725 C04.557.470.200 Anaplastic Thyroid Cancer|Anaplastic Thyroid Cancers|Anaplastic Thyroid Carcinoma|Anaplastic Thyroid Carcinomas|Cancer, Anaplastic Thyroid|Cancers, Anaplastic Thyroid|Carcinoma, Anaplastic Thyroid|Carcinomas, Anaplastic Thyroid|Thyroid Cancer, Anaplastic|Thyroid Cancers, Anaplastic|Thyroid Carcinomas, Anaplastic Cancer Thyroid Carcinoma, Nonmedullary 1 MESH:C565247 OMIM:606240 MESH:D013964 C04.588.322.894/C565247|C04.588.443.915/C565247|C19.344.894/C565247|C19.874.788/C565247 C04.588.322.894|C04.588.443.915|C19.344.894|C19.874.788 NMTC1, FORMERLY|NMTC3|Nonmedullary Thyroid Carcinoma 1|THYROID CANCER, NONMEDULLARY, 1, FORMERLY|THYROID CANCER, NONMEDULLARY, 3 Cancer|Endocrine system disease Thyroid Carcinoma, Papillary, With Papillary Renal Neoplasia MESH:C565310 OMIM:605642 MESH:D002291|MESH:D002292|MESH:D013964 C04.557.470.200.025.390/C565310|C04.557.470.200.360/C565310|C04.557.470.700.360/C565310|C04.588.322.894/C565310|C04.588.443.915/C565310|C04.588.945.947.535.160/C565310|C12.050.351.937.820.535.160/C565310|C12.050.351.968.419.473.160/C565310|C12.200.758.820.750.160/C565310|C12.200.777.419.473.160/C565310|C12.900.820.535.160/C565310|C12.950.419.473.160/C565310|C12.950.983.535.160/C565310|C19.344.894/C565310|C19.874.788/C565310 C04.557.470.200.025.390|C04.557.470.200.360|C04.557.470.700.360|C04.588.322.894|C04.588.443.915|C04.588.945.947.535.160|C12.050.351.937.820.535.160|C12.050.351.968.419.473.160|C12.200.758.820.750.160|C12.200.777.419.473.160|C12.900.820.535.160|C12.950.419.473.160|C12.950.983.535.160|C19.344.894|C19.874.788 PRN1|PTCPRN Cancer|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male) Thyroid Crisis MESH:D013958 DO:DOID:12837 A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems. MESH:D013971 C19.874.397.685.905 C19.874.397.685 Crisis, Thyroid|Crisis, Thyrotoxic|Storm, Thyroid|Storm, Thyrotoxic|Thyroid Storm|Thyrotoxic Crisis|Thyrotoxic Storm Endocrine system disease Thyroid Diseases MESH:D013959 DO:DOID:50 Pathological processes involving the THYROID GLAND. MESH:D004700 C19.874 C19 Diseases, Thyroid|Disease, Thyroid|Thyroid Disease Endocrine system disease Thyroid Dysgenesis MESH:D050033 Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM. MESH:D000013|MESH:D013959 C16.131.894|C19.874.689 C16.131|C19.874 Agenesis, Thyroid|Dysgenesis, Thyroid|Ectopic Thyroid|Ectopic Thyroids|Hypoplasia, Thyroid|Thyroid Agenesis|Thyroid, Ectopic|Thyroid Hypoplasia|Thyroids, Ectopic Congenital abnormality|Endocrine system disease Thyroid Dyshormonogenesis 1 MESH:C564766 DO:DOID:0112185|OMIM:274400 MESH:D003409 C05.116.099.343.347/C564766|C05.116.132.256/C564766|C16.320.240.625/C564766|C19.297.155/C564766|C19.874.482.281/C564766 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 Hypothyroidism, Congenital, due to Dyshormonogenesis, 1|Iodine Accumulation, Transport, or Trapping Defect|TDH1|Thyroid Hormonogenesis, Genetic Defect in, 1 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Thyroid Dyshormonogenesis 2A MESH:C563206 DO:DOID:0112186|OMIM:274500 MESH:D003409 C05.116.099.343.347/C563206|C05.116.132.256/C563206|C16.320.240.625/C563206|C19.297.155/C563206|C19.874.482.281/C563206 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 Hypothyroidism, Congenital, due to Dyshormonogenesis, 2A|Iodide Peroxidase Deficiency|TDH2A|Thyroid Hormonogenesis, Genetic Defect in, 2A|Thyroid Peroxidase Deficiency Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Thyroid Dyshormonogenesis 3 MESH:C562769 DO:DOID:0112187|OMIM:274700 MESH:D007037 C19.874.482/C562769 C19.874.482 Hypothyroidism, Congenital, due to Dyshormonogenesis, 3|TDH3|Thyroid Hormonogenesis, Genetic Defect in, 3 Endocrine system disease Thyroid Dyshormonogenesis 4 MESH:C562770 DO:DOID:0112188|OMIM:274800 MESH:D003409 C05.116.099.343.347/C562770|C05.116.132.256/C562770|C16.320.240.625/C562770|C19.297.155/C562770|C19.874.482.281/C562770 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 Deiodinase Deficiency|Hypothyroidism, Congenital, due to Dyshormonogenesis, 4|Iodotyrosine Dehalogenase Deficiency|TDH4|Thyroid Hormonogenesis, Genetic Defect in, 4 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Thyroid Dyshormonogenesis 5 MESH:C562771 DO:DOID:0112184|OMIM:274900 MESH:D007037 C19.874.482/C562771 C19.874.482 Hypothyroidism, Congenital, due to Dyshormonogenesis, 5|TDH5|Thyroid Hormonogenesis, Genetic Defect in, 5 Endocrine system disease Thyroid Dyshormonogenesis 6 MESH:C564608 DO:DOID:0112189|OMIM:607200 MESH:D003409 C05.116.099.343.347/C564608|C05.116.132.256/C564608|C16.320.240.625/C564608|C19.297.155/C564608|C19.874.482.281/C564608 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 Hypothyroidism, Congenital, due to Dyshormonogenesis, 6|TDH6|Thyroid Hormonogenesis, Genetic Defect in, 6 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Thyroid Hormone Metabolism, Abnormal MESH:C566454 OMIM:609698 MESH:D013959 C19.874/C566454 C19.874 THMA|THMA1|THYROID HORMONE METABOLISM, ABNORMAL, 1 Endocrine system disease Thyroid hormone plasma membrane transport defect MESH:C536916 MESH:D006981 C19.874.410/C536916 C19.874.410 Hyperthyroxinemia, eumetabolic, due to T4 plasma membrane transport|Thyroid hormone resistance due to T4 plasma membrane transport defect Endocrine system disease Thyroid Hormone Resistance, Generalized, Autosomal Dominant MESH:C567934 OMIM:188570 MESH:D018382 C19.874.410.500/C567934 C19.874.410.500 GRTHD|GTHR|Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones|THYROID HORMONE UNRESPONSIVENESS Endocrine system disease Thyroid Hormone Resistance, Generalized, Autosomal Recessive MESH:C567936 OMIM:274300 MESH:D018382 C19.874.410.500/C567936 C19.874.410.500 GRTHR|GTHR|REFETOFF SYNDROME|THYROID HORMONE UNRESPONSIVENESS Endocrine system disease Thyroid Hormone Resistance, Selective Pituitary MESH:C564154 DO:DOID:0111374|OMIM:145650 MESH:D006980 C19.874.397/C564154 C19.874.397 Hyperthyroidism, Familial, due to Inappropriate Thyrotropin Secretion|PRTH Endocrine system disease Thyroid Hormone Resistance Syndrome MESH:D018382 DO:DOID:11633 An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels. MESH:D006981 C19.874.410.500 C19.874.410 Generalized Resistance to Thyroid Hormone|Generalized Thyroid Hormone Resistance|Hormone Resistance, Thyroid|Refetoff DeWind DeGroot Syndrome|Refetoff-DeWind-DeGroot Syndrome|Refetoff Syndrome|Resistance, Thyroid Hormone|Syndrome, Refetoff|Syndrome, Refetoff-DeWind-DeGroot|Thyroid Hormone Resistance Endocrine system disease Thyroiditis MESH:D013966 DO:DOID:7166 Inflammatory diseases of the THYROID GLAND. Thyroiditis can be classified into acute (THYROIDITIS, SUPPURATIVE), subacute (granulomatous and lymphocytic), chronic fibrous (Riedel's), chronic lymphocytic (HASHIMOTO DISEASE), transient (POSTPARTUM THYROIDITIS), and other AUTOIMMUNE THYROIDITIS subtypes. MESH:D013959 C19.874.871 C19.874 Thyroiditides Endocrine system disease Thyroiditis, Autoimmune MESH:D013967 DO:DOID:7188|OMIM:608173|OMIM:608174|OMIM:608175|OMIM:608176 Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis. MESH:D001327|MESH:D013966 C19.874.871.102|C20.111.809 C19.874.871|C20.111 AITD1|AITD2|AITD3|AITD4|AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1|AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2|AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3|AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4|Autoimmune Thyroiditides|Autoimmune Thyroiditis|Lymphocytic Thyroiditides|Lymphocytic Thyroiditis|Lymphomatous Thyroiditides|Lymphomatous Thyroiditis|Thyroiditides, Autoimmune|Thyroiditides, Lymphocytic|Thyroiditides, Lymphomatous|Thyroiditis, Lymphocytic|Thyroiditis, Lymphomatous Endocrine system disease|Immune system disease Thyroiditis, Chronic MESH:C535842 MESH:D013966|MESH:D050031 C19.874.871.102.500/C535842|C19.874.871/C535842 C19.874.871|C19.874.871.102.500 Endocrine system disease Thyroiditis, Subacute MESH:D013968 DO:DOID:7165 Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection. MESH:D013966 C19.874.871.900 C19.874.871 Cell Thyroiditides, Giant|Cell Thyroiditis, Giant|De Quervain Thyroiditis|Giant Cell Thyroiditides|Giant Cell Thyroiditis|Granulomatous Thyroiditides|Granulomatous Thyroiditis|Nonsuppurative Thyroiditides, Subacute|Nonsuppurative Thyroiditis, Subacute|Painful Thyroiditides, Subacute|Painful Thyroiditis, Subacute|Subacute Nonsuppurative Thyroiditides|Subacute Nonsuppurative Thyroiditis|Subacute Painful Thyroiditides|Subacute Painful Thyroiditis|Subacute Thyroiditides|Subacute Thyroiditis|Thyroiditides, Giant Cell|Thyroiditides, Granulomatous|Thyroiditides, Subacute|Thyroiditides, Subacute Nonsuppurative|Thyroiditides, Subacute Painful|Thyroiditis, De Quervain|Thyroiditis, Giant Cell|Thyroiditis, Granulomatous|Thyroiditis, Subacute Nonsuppurative|Thyroiditis, Subacute Painful Endocrine system disease Thyroiditis, Suppurative MESH:D013969 DO:DOID:14350 Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS. MESH:D013492|MESH:D013966 C01.830.840|C19.874.871.910 C01.830|C19.874.871 Acute Infectious Thyroiditides|Acute Infectious Thyroiditis|Acute Suppurative Thyroiditides|Acute Suppurative Thyroiditis|Infectious Thyroiditides|Infectious Thyroiditides, Acute|Infectious Thyroiditis|Infectious Thyroiditis, Acute|Suppurative Thyroiditides|Suppurative Thyroiditides, Acute|Suppurative Thyroiditis|Suppurative Thyroiditis, Acute|Thyroiditides, Acute Infectious|Thyroiditides, Acute Suppurative|Thyroiditides, Infectious|Thyroiditides, Suppurative|Thyroiditis, Acute Infectious|Thyroiditis, Acute Suppurative|Thyroiditis, Infectious Endocrine system disease Thyroid Neoplasms MESH:D013964 DO:DOID:1781|DO:DOID:2891|DO:DOID:3963 Tumors or cancer of the THYROID GLAND. MESH:D004701|MESH:D006258|MESH:D013959 C04.588.322.894|C04.588.443.915|C19.344.894|C19.874.788 C04.588.322|C04.588.443|C19.344|C19.874 Adenomas, Thyroid|Adenoma, Thyroid|Cancer of the Thyroid|Cancer of Thyroid|Cancers, Thyroid|Cancer, Thyroid|Carcinomas, Thyroid|Carcinoma, Thyroid|Neoplasms, Thyroid|Neoplasm, Thyroid|Thyroid Adenoma|Thyroid Adenomas|Thyroid Cancer|Thyroid Cancers|Thyroid Carcinoma|Thyroid Carcinomas|Thyroid Neoplasm Cancer|Endocrine system disease Thyroid Nodule MESH:D016606 A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR). MESH:D013964 C04.588.322.894.800|C04.588.443.915.800|C19.344.894.800|C19.874.788.800 C04.588.322.894|C04.588.443.915|C19.344.894|C19.874.788 Nodules, Thyroid|Nodule, Thyroid|Thyroid Nodules Cancer|Endocrine system disease THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1 OMIM:612306 MESH:D013959 C19.874/612306 C19.874 THYROTROPIN QUANTITATIVE TRAIT LOCUS 1|TSHQTL1 Endocrine system disease Thyrotoxicosis MESH:D013971 DO:DOID:7997 A hypermetabolic syndrome caused by excess THYROID HORMONES which may come from endogenous or exogenous sources. The endogenous source of hormone may be thyroid HYPERPLASIA; THYROID NEOPLASMS; or hormone-producing extrathyroidal tissue. Thyrotoxicosis is characterized by NERVOUSNESS; TACHYCARDIA; FATIGUE; WEIGHT LOSS; heat intolerance; and excessive SWEATING. MESH:D006980 C19.874.397.685 C19.874.397 Thyrotoxicoses Endocrine system disease THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 OMIM:188580 MESH:D006111|MESH:D020514|MESH:D050031 C05.651.701.450/188580|C10.668.491.650.450/188580|C11.675.349.500/188580|C16.320.565.618.711.550/188580|C18.452.648.618.711.550/188580|C19.874.283.605/188580|C19.874.397.370/188580|C19.874.871.102.500/188580|C20.111.555/188580 C05.651.701.450|C10.668.491.650.450|C11.675.349.500|C16.320.565.618.711.550|C18.452.648.618.711.550|C19.874.283.605|C19.874.397.370|C19.874.871.102.500|C20.111.555 TTPP1 Endocrine system disease|Eye disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Musculoskeletal disease|Nervous system disease THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 OMIM:613239 MESH:D020514 C05.651.701.450/613239|C10.668.491.650.450/613239|C16.320.565.618.711.550/613239|C18.452.648.618.711.550/613239 C05.651.701.450|C10.668.491.650.450|C16.320.565.618.711.550|C18.452.648.618.711.550 TTPP2 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Thyrotropin, Biologically Inactive MESH:C564765 MESH:D003409 C05.116.099.343.347/C564765|C05.116.132.256/C564765|C16.320.240.625/C564765|C19.297.155/C564765|C19.874.482.281/C564765 C05.116.099.343.347|C05.116.132.256|C16.320.240.625|C19.297.155|C19.874.482.281 Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Thyrotropin deficiency, isolated MESH:C000610012 MESH:D006980 C19.874.397/C000610012 C19.874.397 Endocrine system disease THYROTROPIN-RELEASING HORMONE DEFICIENCY OMIM:275120 MESH:D007037|MESH:D008661 C16.320.565/275120|C18.452.648/275120|C19.874.482/275120 C16.320.565|C18.452.648|C19.874.482 HYPOTHALAMIC HYPOTHYROIDISM|TRH DEFICIENCY Endocrine system disease|Genetic disease (inborn)|Metabolic disease Thyrotropin-Releasing Hormone Resistance, Generalized MESH:C566049 MESH:D007037 C19.874.482/C566049 C19.874.482 Endocrine system disease Thyroxine-Binding Globulin Deficiency MESH:C564049 MESH:D040181 C16.320.322/C564049 C16.320.322 Genetic disease (inborn) Tibia, Absence of, with Congenital Deafness MESH:C564764 MESH:D003638 C09.218.458.341.186/C564764|C10.597.751.418.341.186/C564764|C23.888.592.763.393.341.186/C564764 C09.218.458.341.186|C10.597.751.418.341.186|C23.888.592.763.393.341.186 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies MESH:C563403 MESH:D000015|MESH:D016080|MESH:D017689 C04.182.044/C563403|C04.588.614.250.387.100/C563403|C05.660.585.600/C563403|C10.500.142.100/C563403|C10.551.240.375.100/C563403|C16.131.077/C563403|C16.131.621.585.600/C563403|C16.131.666.142.100/C563403 C04.182.044|C04.588.614.250.387.100|C05.660.585.600|C10.500.142.100|C10.551.240.375.100|C16.131.077|C16.131.621.585.600|C16.131.666.142.100 Cancer|Congenital abnormality|Musculoskeletal disease|Nervous system disease Tibia absent polydactyly arachnoid cyst MESH:C536918 MESH:D016080|MESH:D017689 C04.182.044/C536918|C04.588.614.250.387.100/C536918|C05.660.585.600/C536918|C10.500.142.100/C536918|C10.551.240.375.100/C536918|C16.131.621.585.600/C536918|C16.131.666.142.100/C536918 C04.182.044|C04.588.614.250.387.100|C05.660.585.600|C10.500.142.100|C10.551.240.375.100|C16.131.621.585.600|C16.131.666.142.100 Cancer|Congenital abnormality|Musculoskeletal disease|Nervous system disease Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum MESH:C563787 MESH:D005660|MESH:D011542|MESH:D038061 C05.116.099.386/C563787|C05.660.386/C563787|C05.660.585.512/C563787|C16.131.621.386/C563787|C16.131.621.585.512/C563787|C26.404.468.627/C563787 C05.116.099.386|C05.660.386|C05.660.585.512|C16.131.621.386|C16.131.621.585.512|C26.404.468.627 Congenital abnormality|Musculoskeletal disease|Wounds and injuries Tibia, Hypoplasia of, with Polydactyly MESH:C566046 MESH:D004480|MESH:D017689 C05.660.585.350/C566046|C05.660.585.600/C566046|C16.131.621.585.350/C566046|C16.131.621.585.600/C566046 C05.660.585.350|C05.660.585.600|C16.131.621.585.350|C16.131.621.585.600 Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs with Fibular Dimelia Congenital abnormality|Musculoskeletal disease Tibial Fractures MESH:D013978 Fractures of the TIBIA. MESH:D007869|MESH:D050723 C26.404.875|C26.558.857 C26.404|C26.558 Fracture, Segond|Fractures, Tibial|Fracture, Tibial|Fracture, Tillaux|Fracture, Toddler's|Segond Fracture|Tibial Fracture|Tillaux Fracture|Toddler Fracture|Toddler's Fracture|Toddlers Fracture Wounds and injuries Tibial Meniscus Injuries MESH:D000070600 Injuries to the TIBIAL MENISCUS of the leg. MESH:D007869 C26.558.781 C26.558 Bucket Handle Tear|Bucket Handle Tears|Flap Tear|Flap Tears|Injuries, Tibial Meniscus|Injury, Tibial Meniscus|Meniscus Injuries, Tibial|Meniscus Injury, Tibial|Meniscus Tears, Tibial|Meniscus Tear, Tibial|Meniscus, Torn Tibial|Tears, Flap|Tears, Tibial Meniscus|Tear, Tibial Meniscus|Tibial Meniscus Injury|Tibial Meniscus Tear|Tibial Meniscus Tears|Tibial Meniscus, Torn|Torn Tibial Meniscus Wounds and injuries Tibial Neuropathy MESH:D020429 DO:DOID:1187 Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32) MESH:D020422 C10.668.829.500.700 C10.668.829.500 Internal Popliteal Neuropathies|Internal Popliteal Neuropathy|Lateral Plantar Neuropathies|Lateral Plantar Neuropathy|Medial Plantar Nerve Disease|Medial Plantar Neuropathies|Medial Plantar Neuropathy|Medial Popliteal Neuropathies|Medial Popliteal Neuropathy|Nerve Diseases, Tibial|Nerve Disease, Tibial|Neuropathies, Internal Popliteal|Neuropathies, Lateral Plantar|Neuropathies, Medial Plantar|Neuropathies, Medial Popliteal|Neuropathies, Posterior Tibial|Neuropathies, Tibial|Neuropathy, Internal Popliteal|Neuropathy, Lateral Plantar|Neuropathy, Medial Plantar|Neuropathy, Medial Popliteal|Neuropathy, Posterior Tibial|Neuropathy, Post-Traumatic Tibial|Neuropathy, Tibial|Plantar Neuropathy, Lateral|Plantar Neuropathy, Medial|Popliteal Neuropathies, Internal|Popliteal Neuropathies, Medial|Popliteal Neuropathy, Internal|Popliteal Neuropathy, Medial|Posterior Tibial Nerve Diseases|Posterior Tibial Neuropathies|Posterior Tibial Neuropathy|Post-Traumatic Tibial Neuropathies|Post-Traumatic Tibial Neuropathy|Tibial Nerve Disease|Tibial Nerve Diseases|Tibial Neuropathies|Tibial Neuropathies, Posterior|Tibial Neuropathies, Post-Traumatic|Tibial Neuropathy, Posterior|Tibial Neuropathy, Post Traumatic|Tibial Neuropathy, Post-Traumatic Nervous system disease Tibial Plateau Fractures MESH:D000092463 Fractures in the proximal portion of the TIBIA which acts as articular surface in the KNEE. They are often associated with knee ligament injuries (e.g., ACL TEARS). MESH:D000092443|MESH:D013978 C26.404.525.500|C26.404.875.500|C26.558.554.625.500|C26.558.857.500 C26.404.525|C26.404.875|C26.558.554.625|C26.558.857 Bicondylar Tibial Plateau Fracture|Bicondylar Tibial Plateau Fractures|Fracture, Tibial Plateau|Lateral Tibial Plateau Fracture|Lateral Tibial Plateau Fractures|Medial Tibial Plateau Fracture|Medial Tibial Plateau Fractures|Tibial Plateau Fracture Wounds and injuries Tibial Torsion, Bilateral Medial MESH:C566045 MESH:D014102 C23.300.970/C566045 C23.300.970 Pathology (anatomical condition) Tic Disorders MESH:D013981 DO:DOID:10600|DO:DOID:2768|DO:DOID:2769 Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994) MESH:D009069|MESH:D065886 C10.228.662.825|F03.625.992 C10.228.662|F03.625 Childhood Tic Disorder|Childhood Tic Disorders|Chronic Motor or Vocal Tic Disorder|Motor or Vocal Tic Disorder, Chronic|Motor Tic Disorder|Motor Tic Disorders|Post Traumatic Tic Disorder|Post-Traumatic Tic Disorder|Post-Traumatic Tic Disorders|Tic Disorder|Tic Disorder, Childhood|Tic Disorder, Chronic Motor or Vocal|Tic Disorder, Motor|Tic Disorder, Post Traumatic|Tic Disorder, Post-Traumatic|Tic Disorders, Childhood|Tic Disorders, Motor|Tic Disorders, Post-Traumatic|Tic Disorders, Transient|Tic Disorders, Vocal|Tic Disorder, Transient|Tic Disorder, Vocal|Transient Tic Disorder|Transient Tic Disorders|Vocal Tic Disorder|Vocal Tic Disorders Mental disorder|Nervous system disease Tick Bites MESH:D064927 The effects, both local and systemic, caused by the bites of TICKS. MESH:D001733 C25.723.127.789|C26.176.793 C25.723.127|C26.176 Bites, Tick|Bite, Tick|Tick Bite Wounds and injuries Tick-Borne Diseases MESH:D017282 Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic. MESH:D000079426 C01.920.930 C01.920 Borne Diseases, Tick|Borne Disease, Tick|Diseases, Tick Borne|Diseases, Tick-Borne|Disease, Tick Borne|Disease, Tick-Borne|Infections, Tick Borne|Infections, Tick-Borne|Infection, Tick-Borne|Tick Borne Disease|Tick-Borne Disease|Tick Borne Diseases|Tick Borne Infection|Tick-Borne Infection|Tick Borne Infections|Tick-Borne Infections Tick Infestations MESH:D013984 DO:DOID:4109 Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks. MESH:D004478 C01.610.858.211.857 C01.610.858.211 Infestations, Tick|Infestation, Tick|Tick Infestation Parasitic disease Tick Paralysis MESH:D013985 DO:DOID:11285 Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks. MESH:D013986 C25.723.127.789.500.707 C25.723.127.789.500 Paralyses, Tick|Paralysis, Tick|Tick Paralyses Tick Toxicoses MESH:D013986 Toxicoses caused by toxic substances secreted by the salivary glands of ticks; include tick paralysis (neurotropic toxin), sweating sickness (dermotropic toxin), and Rhipicephalus appendiculatus toxicosis (leukotropic toxin). MESH:D064927 C25.723.127.789.500 C25.723.127.789 Toxicoses, Tick Tics MESH:D020323 Habitual, repeated, rapid contraction of certain muscles, resulting in stereotyped individualized actions that can be voluntarily suppressed for only brief periods. They often involve the face, vocal cords, neck, and less often the extremities. Examples include repetitive throat clearing, vocalizations, sniffing, pursing the lips, and excessive blinking. Tics tend to be aggravated by emotional stress. When frequent they may interfere with speech and INTERPERSONAL RELATIONS. Conditions which feature frequent and prominent tics as a primary manifestation of disease are referred to as TIC DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, pp109-10) MESH:D020820 C10.597.350.700|C23.888.592.350.700 C10.597.350|C23.888.592.350 Chorea, Habit|Choreas, Habit|Gestural Tic|Gestural Tics|Habit Chorea|Habit Choreas|Habit Spasm|Habit Spasms|Habituation Spasm|Habituation Spasms|Motor Tic|Motor Tics|Spasm, Habit|Spasm, Habituation|Spasms, Habit|Spasms, Habituation|Tic|Tic, Gestural|Tic, Motor|Tics, Gestural|Tics, Motor|Tics, Transient|Tics, Vocal|Tic, Transient|Tic, Vocal|Transient Tic|Transient Tics|Vocal Tic|Vocal Tics Nervous system disease|Signs and symptoms Tietze's Syndrome MESH:D013991 DO:DOID:14021 Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. (Dorland, 27th ed.) MESH:D002357 C05.182.790|C17.300.182.790 C05.182|C17.300.182 Chondritides, Costal|Chondritis, Costal|Costal Chondritides|Costal Chondritis|Syndrome, Tietze's|Tietzes Syndrome|Tietze Syndrome Connective tissue disease|Musculoskeletal disease Tietz syndrome MESH:C536919 DO:DOID:0090002|OMIM:103500 MESH:D003638|MESH:D016115 C09.218.458.341.186/C536919|C10.597.751.418.341.186/C536919|C11.270.040.545/C536919|C16.320.290.040.100/C536919|C16.320.565.100.102.100/C536919|C16.320.850.080.100/C536919|C17.800.621.440.102.100/C536919|C17.800.827.080.100/C536919|C18.452.648.100.102.100/C536919|C23.888.592.763.393.341.186/C536919 C09.218.458.341.186|C10.597.751.418.341.186|C11.270.040.545|C16.320.290.040.100|C16.320.565.100.102.100|C16.320.850.080.100|C17.800.621.440.102.100|C17.800.827.080.100|C18.452.648.100.102.100|C23.888.592.763.393.341.186 Albinism and complete nerve deafness|Albinism-deafness of Tietz|Hypopigmentation-deafness of Tietz|HYPOPIGMENTATION/DEAFNESS OF TIETZ|TADS|Tietz albinism-deafness syndrome|TIETZ SYNDROME Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease Tight skin contracture syndrome, lethal MESH:C536920 DO:DOID:0060762|OMIM:275210 MESH:D003286|MESH:D012868 C05.550.323/C536920|C05.651.197/C536920|C16.131.831/C536920|C17.800.804/C536920 C05.550.323|C05.651.197|C16.131.831|C17.800.804 Fetal hypokinesia sequence due to restrictive dermopathy|Hyperkeratosis-contracture syndrome|RESTRICTIVE DERMOPATHY 1|RESTRICTIVE DERMOPATHY 1, LETHAL|Restrictive dermopathy, lethal|RSDM1|TIGHT SKIN CONTRACTURE SYNDROME, LETHAL Congenital abnormality|Musculoskeletal disease|Skin disease Tiglic acidemia MESH:C536921 MESH:D000592 C16.320.565.100/C536921|C18.452.648.100/C536921 C16.320.565.100|C18.452.648.100 Disorder of isoleucine metabolism Genetic disease (inborn)|Metabolic disease Timothy syndrome MESH:C536962 DO:DOID:0060173|OMIM:601005 MESH:D001321|MESH:D008133|MESH:D013576 C05.116.099.370.894.819/C536962|C05.660.585.800/C536962|C05.660.906.819/C536962|C14.280.067.565/C536962|C14.280.123.625/C536962|C16.131.240.400.715/C536962|C16.131.621.585.800/C536962|C16.131.621.906.819/C536962|C23.550.073.547/C536962|F03.625.164.113.500/C536962 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C14.280.067.565|C14.280.123.625|C16.131.240.400.715|C16.131.621.585.800|C16.131.621.906.819|C23.550.073.547|F03.625.164.113.500 Long Qt Syndrome 8|Long QT syndrome with syndactyly|TS Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Pathology (process) Tinea MESH:D014005 Fungal infection of keratinized tissues such as hair, skin and nails. The main causative fungi include MICROSPORUM; TRICHOPHYTON; and EPIDERMOPHYTON. MESH:D003881 C01.150.703.302.720|C01.800.200.720|C17.800.838.208.883 C01.150.703.302|C01.800.200|C17.800.838.208 Dermatophytoses|Dermatophytosis|Epidermophytoses|Epidermophytosis|Infection, Trichophyton mentagrophytes|Ringworm|Tinea Corporis|Tineas|Trichophyton mentagrophytes Infection|Trichophyton mentagrophytes Infections|Trichophytoses|Trichophytosis Bacterial infection or mycosis|Skin disease tinea barbae MESH:C000656825 DO:DOID:0050096 MESH:D005148|MESH:D014005 C01.150.703.302.720/C000656825|C01.800.200.720/C000656825|C17.800.271/C000656825|C17.800.838.208.883/C000656825 C01.150.703.302.720|C01.800.200.720|C17.800.271|C17.800.838.208.883 barber's itch|beard ringworm Bacterial infection or mycosis|Skin disease Tinea Capitis MESH:D014006 Ringworm of the scalp and associated hair mainly caused by species of MICROSPORUM; TRICHOPHYTON; and EPIDERMOPHYTON, which may occasionally involve the eyebrows and eyelashes. MESH:D012536|MESH:D014005 C01.150.703.302.720.730|C01.800.200.720.730|C17.800.738.708|C17.800.838.208.883.558 C01.150.703.302.720|C01.800.200.720|C17.800.738|C17.800.838.208.883 Barbae, Trichophytia Profunda|Capitides, Trichophytia Profunda|Capitis Profundas, Tinea|Capitis Profunda, Tinea|Capitis, Trichophytia Profunda|Kerion Celsi|Profunda Barbae, Trichophytia|Profunda Capitides, Trichophytia|Profunda Capitis, Trichophytia|Profundas, Tinea Capitis|Profunda, Tinea Capitis|Tinea Capitis Profunda|Tinea Capitis Profundas|Trichophytia Profunda Barbae|Trichophytia Profunda Capitides|Trichophytia Profunda Capitis Bacterial infection or mycosis|Skin disease Tinea cruris MESH:D000084002 Fungal infection of the groin. The main causative fungus is TRICHOPHYTON. MESH:D007402|MESH:D014005 C01.150.703.302.720.745|C01.800.200.720.745|C17.800.174.640.500|C17.800.815.650.500|C17.800.838.208.883.608 C01.150.703.302.720|C01.800.200.720|C17.800.174.640|C17.800.815.650|C17.800.838.208.883 Jock Itch|Jock Itchs Bacterial infection or mycosis|Skin disease Tinea Favosa MESH:D014007 DO:DOID:4336 A disease of the scalp that may affect the glabrous skin and the nails and is recognized by the concave sulfur-yellow crusts that form around loose, wiry hairs. Atrophy ensues, leaving a smooth, glossy, thin, paper-white patch. This type of disease is rare in the United States and more frequently seen in the Middle East, Africa, Southeastern Europe, and other countries bordering the Mediterranean Sea. (Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p319) MESH:D014006 C01.150.703.302.720.730.740|C01.800.200.720.730.740|C17.800.738.708.708|C17.800.838.208.883.558.708 C01.150.703.302.720.730|C01.800.200.720.730|C17.800.738.708|C17.800.838.208.883.558 Favus Bacterial infection or mycosis|Skin disease tinea incognita MESH:C000656845 MESH:D014005 C01.150.703.302.720/C000656845|C01.800.200.720/C000656845|C17.800.838.208.883/C000656845 C01.150.703.302.720|C01.800.200.720|C17.800.838.208.883 tinea faciei incognito Bacterial infection or mycosis|Skin disease tinea manus MESH:C000656824 DO:DOID:13369 MESH:D006229|MESH:D014005 C01.150.703.302.720/C000656824|C01.800.200.720/C000656824|C17.800.338/C000656824|C17.800.838.208.883/C000656824 C01.150.703.302.720|C01.800.200.720|C17.800.338|C17.800.838.208.883 tinea manuum Bacterial infection or mycosis|Skin disease tinea nigra MESH:C000656904 DO:DOID:8912 MESH:D014005 C01.150.703.302.720/C000656904|C01.800.200.720/C000656904|C17.800.838.208.883/C000656904 C01.150.703.302.720|C01.800.200.720|C17.800.838.208.883 Hortaea werneckii infection Bacterial infection or mycosis|Skin disease Tinea Pedis MESH:D014008 DO:DOID:12403 Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum. MESH:D005533|MESH:D011537|MESH:D014005 C01.150.703.302.720.760|C01.800.200.720.760|C17.800.321.125.500|C17.800.838.208.883.658|C23.888.885.625.500 C01.150.703.302.720|C01.800.200.720|C17.800.321.125|C17.800.838.208.883|C23.888.885.625 Athlete Foot|Athlete's Foot|Athletes Foot Bacterial infection or mycosis|Signs and symptoms|Skin disease Tinea Versicolor MESH:D014010 DO:DOID:9060 A common chronic, noninflammatory and usually symptomless disorder, characterized by the occurrence of multiple macular patches of all sizes and shapes, and varying in pigmentation from fawn-colored to brown. It is seen most frequently in hot, humid, tropical regions and is mostly caused by MALASSEZIA FURFUR (formerly Pityrosporum orbiculare). MESH:D003881 C01.150.703.302.860|C01.800.200.860|C17.800.838.208.941 C01.150.703.302|C01.800.200|C17.800.838.208 Folliculitides, Pityriasis|Folliculitis, Pityriasis|Infection, Malassezia furfur|Infection, Pityrosporum orbiculare|Malassezia furfur Infection|Malassezia furfur Infections|Pityriasis Folliculitides|Pityriasis Folliculitis|Pityriasis Versicolor|Pityrosporum orbiculare Infection|Pityrosporum orbiculare Infections Bacterial infection or mycosis|Skin disease Tinnitus MESH:D014012 A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other noises in the ear. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; and other conditions. MESH:D006311 C09.218.458.670|C10.597.751.418.670|C23.888.592.763.393.670 C09.218.458|C10.597.751.418|C23.888.592.763.393 Clicking Tinnitus|Induced Tinnitus, Noise|Leudet's Tinnitus|Leudet Tinnitus|Noise Induced Tinnitus|Objective Tinnitus|Pulsatile Tinnitus|Ringing Buzzing Tinnitus|Ringing-Buzzing-Tinnitus|Spontaneous Oto Acoustic Emission Tinnitus|Spontaneous Oto-Acoustic Emission Tinnitus|Subjective Tinnitus|Tensor Palatini Induced Tinnitus|Tensor Tympani Induced Tinnitus|Tinnitus, Clicking|Tinnitus, Leudet|Tinnitus, Leudet's|Tinnitus, Leudets|Tinnitus, Noise Induced|Tinnitus, Objective|Tinnitus of Vascular Origin|Tinnitus, Pulsatile|Tinnitus, Spontaneous Oto Acoustic Emission|Tinnitus, Spontaneous Oto-Acoustic Emission|Tinnitus, Subjective|Tinnitus, Tensor Palatini Induced|Tinnitus, Tensor Tympani Induced|Tinnitus, Vascular Origin|Vascular Origin Tinnitus Ear-nose-throat disease|Nervous system disease|Signs and symptoms Tissue Adhesions MESH:D000267 Pathological processes consisting of the union of the opposing surfaces of a wound. MESH:D002921 C23.550.355.274.840 C23.550.355.274 Adhesions, Surgery-Induced Tissue|Adhesions, Surgical|Adhesions, Tissue|Adhesion, Surgery-Induced Tissue|Adhesion, Surgical|Adhesion, Tissue|Surgery-Induced Tissue Adhesion|Surgery Induced Tissue Adhesions|Surgery-Induced Tissue Adhesions|Surgical Adhesion|Surgical Adhesions|Tissue Adhesion|Tissue Adhesions, Surgery-Induced|Tissue Adhesion, Surgery-Induced Pathology (process) T-Lymphocytopenia MESH:C536783 MESH:D008231 C15.378.553.546.605/C536783|C20.673.627/C536783 C15.378.553.546.605|C20.673.627 Blood disease|Immune system disease T-Lymphocytopenia, Idiopathic CD4-Positive MESH:D018344 DO:DOID:3109|OMIM:615518 Reproducible depletion of CD4+ lymphocytes below 300 per cubic millimeter in the absence of HIV infection or other known causes of immunodeficiency. This is a rare, heterogeneous syndrome and does not appear to be caused by a transmissible agent. MESH:D008231 C15.378.553.546.605.800|C20.673.627.800 C15.378.553.546.605|C20.673.627 CD4 Positive T Lymphocytopenia, Idiopathic|CD4-Positive T-Lymphocytopenia, Idiopathic|CD4+ T Lymphocytopenia|CD4+ T-Lymphocytopenia|CD4+ T Lymphocytopenia, Idiopathic|CD4+ T-Lymphocytopenia, Idiopathic|CD4+ T-Lymphocytopenias|ICL|IDIOPATHIC CD4 LYMPHOPENIA|Idiopathic CD4 Positive T-Lymphocytopenia|Idiopathic CD4-Positive T-Lymphocytopenia|Idiopathic CD4+ T Lymphocytopenia|Idiopathic CD4+ T-Lymphocytopenia|IMD13|IMMUNODEFICIENCY 13|T-Lymphocytopenia, CD4+|T Lymphocytopenia, Idiopathic CD4+|T-Lymphocytopenia, Idiopathic CD4+|T Lymphocytopenia, Idiopathic CD4 Positive|T-Lymphocytopenias, CD4+ Blood disease|Immune system disease Tn Syndrome MESH:C562719 OMIM:300622 MESH:D001327 C20.111/C562719 C20.111 Galactosyltransferase Deficiency|TN POLYAGGLUTINATION SYNDROME|TNPS Immune system disease TOBACCO ADDICTION, SUSCEPTIBILITY TO OMIM:188890 MESH:D014029 C25.775.912/188890|F03.900.912/188890 C25.775.912|F03.900.912 CIGARETTE HABITUATION, SUSCEPTIBILITY TO|NICOTINE ADDICTION, SUSCEPTIBILITY TO|NICOTINE DEPENDENCE, PROTECTION AGAINST|NICOTINE DEPENDENCE, SUSCEPTIBILITY TO|SMOKING HABIT, SUSCEPTIBILITY TO Mental disorder|Substance-related disorder Tobacco Use Disorder MESH:D014029 DO:DOID:0050742 Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included. MESH:D019966 C25.775.912|F03.900.912 C25.775|F03.900 Addiction, Nicotine|Dependence, Nicotine|Dependence, Tobacco|Disorder, Nicotine Use|Disorder, Tobacco Use|Disorder, Tobacco-Use|Nicotine Addiction|Nicotine Addictions|Nicotine Dependence|Nicotine Use Disorder|Nicotine Use Disorders|Tobacco Dependence|Tobacco-Use Disorder|Tobacco Use Disorders Mental disorder|Substance-related disorder Toenail Dystrophy, Isolated MESH:C564384 OMIM:607523 MESH:D009260|MESH:D009264 C17.800.529/C564384|C23.300.820/C564384 C17.800.529|C23.300.820 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8|NDNC8|TOENAIL DYSTROPHY, ISOLATED Pathology (anatomical condition)|Skin disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations MESH:C567475 DO:DOID:0111931|OMIM:300707 MESH:D006972|MESH:D013576|MESH:D014564 C05.116.099.370.231.480/C567475|C05.116.099.370.894.819/C567475|C05.660.207.231.480/C567475|C05.660.585.800/C567475|C05.660.906.819/C567475|C12.050.351.875/C567475|C12.200.706/C567475|C12.800/C567475|C16.131.621.207.231.480/C567475|C16.131.621.585.800/C567475|C16.131.621.906.819/C567475|C16.131.939/C567475 C05.116.099.370.231.480|C05.116.099.370.894.819|C05.660.207.231.480|C05.660.585.800|C05.660.906.819|C12.050.351.875|C12.200.706|C12.800|C16.131.621.207.231.480|C16.131.621.585.800|C16.131.621.906.819|C16.131.939 STAR|STAR Syndrome|Syndactyly with Renal and Anogenital Malformations Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Togaviridae Infections MESH:D014036 Virus diseases caused by the TOGAVIRIDAE. MESH:D012327 C01.925.782.930 C01.925.782 Diseases, Togaviridae|Disease, Togaviridae|Infections, Togaviridae|Infections, Togavirus|Infection, Togaviridae|Infection, Togavirus|Togaviridae Disease|Togaviridae Diseases|Togaviridae Infection|Togavirus Infection|Togavirus Infections Viral disease Tollner Horst Manzke syndrome MESH:C536964 MESH:D000015|MESH:D006228|MESH:D019465 C05.390.408/C536964|C05.660.207/C536964|C05.660.585.988.425/C536964|C16.131.077/C536964|C16.131.621.207/C536964|C16.131.621.585.988.500/C536964 C05.390.408|C05.660.207|C05.660.585.988.425|C16.131.077|C16.131.621.207|C16.131.621.585.988.500 Heptacarpo-octatarso-dactyly combined with multiple malformation Congenital abnormality|Musculoskeletal disease Tolosa-Hunt Syndrome MESH:D020333 DO:DOID:1278 An idiopathic syndrome characterized by the formation of granulation tissue in the anterior cavernous sinus or superior orbital fissure, producing a painful ophthalmoplegia. (Adams et al., Principles of Neurology, 6th ed, p271) MESH:D015835 C10.292.562.900|C11.590.905 C10.292.562|C11.590 Tolosa Hunt Syndrome Eye disease|Nervous system disease Tomaculous neuropathy MESH:C536965 DO:DOID:0060843|OMIM:162500 MESH:D001176|MESH:D015417 C05.550.150/C536965|C05.651.102/C536965|C05.660.077/C536965|C10.500.300/C536965|C10.574.500.495/C536965|C10.668.829.800.300/C536965|C16.131.621.077/C536965|C16.131.666.300/C536965|C16.320.400.375/C536965 C05.550.150|C05.651.102|C05.660.077|C10.500.300|C10.574.500.495|C10.668.829.800.300|C16.131.621.077|C16.131.666.300|C16.320.400.375 Compression Neuropathy|Familial Pressure Sensitive Neuropathy|Hereditary Neuropathy with Liability To Pressure Palsies|Hereditary Neuropathy with Liability to Pressure Palsy|Hereditary Pressure Sensitive Neuropathy|HNPP|Inherited Tendency To Pressure Palsies|Neuropathy, Hereditary, With Liability To Pressure Palsies|Polyneuropathy, familial recurrent|TOMACULOUS NEUROPATHY Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Tongue Diseases MESH:D014060 DO:DOID:10944 Diseases involving the TONGUE. MESH:D009059 C07.465.910 C07.465 Diseases, Tongue|Disease, Tongue|Microglossia|Microglossias|Tongue Disease Mouth disease Tongue, Fissured MESH:D014063 DO:DOID:11514 The occurrence of of breaks or slits in the tissue of the dorsal surface of the TONGUE. MESH:D014060 C07.465.910.708 C07.465.910 Fissured Tongue|Fissured Tongues|Furrowed Tongue|Furrowed Tongues|Lingua Plicata|Lingua Plicatas|Plicata, Lingua|Plicatas, Lingua|Scrotal Tongue|Scrotal Tongues|Tongue, Furrowed|Tongue, Scrotal|Tongues, Fissured|Tongues, Furrowed|Tongues, Scrotal Mouth disease Tongue, Hairy MESH:D014064 DO:DOID:13500 A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed) MESH:D014060 C07.465.910.791 C07.465.910 Hairy Tongue|Hairy Tongues|Tongues, Hairy Mouth disease Tongue Neoplasms MESH:D014062 DO:DOID:8649 Tumors or cancer of the TONGUE. MESH:D009062|MESH:D014060 C04.588.443.591.925|C07.465.530.925|C07.465.910.470 C04.588.443.591|C07.465.530|C07.465.910 Cancer of the Tongue|Cancer of Tongue|Cancers, Tongue|Cancer, Tongue|Neoplasms, Tongue|Neoplasm, Tongue|Tongue Cancer|Tongue Cancers|Tongue Neoplasm Cancer|Mouth disease Tonic Pupil MESH:D015845 A pupillary abnormality characterized by a poor pupillary light reaction, reduced accommodation, iris sector palsies, an enhanced pupillary response to near effort that results in a prolonged, 'tonic' constriction, and slow pupillary redilation. This condition is associated with injury to the postganglionic parasympathetic innervation to the pupil. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp492-500) MESH:D011681 C10.597.690.575|C11.710.800|C23.888.592.708.575 C10.597.690|C11.710|C23.888.592.708 Adie Pupil|Adie's Pupil|Adies Pupil|Myotonic Pupil|Myotonic Pupils|Neuropathic Tonic Pupil|Neuropathic Tonic Pupils|Pupil, Adie|Pupil, Adie's|Pupil, Local Tonic|Pupillotonia|Pupillotonias|Pupil, Myotonic|Pupil, Neuropathic Tonic|Pupils, Adie's|Pupils, Local Tonic|Pupils, Myotonic|Pupils, Neuropathic Tonic|Pupils, Tonic|Pupil, Tonic|Tonic Pupil, Local|Tonic Pupil, Neuropathic|Tonic Pupils|Tonic Pupils, Local|Tonic Pupils, Neuropathic Eye disease|Nervous system disease|Signs and symptoms Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes MESH:C531601 MESH:D000270 C10.177.045/C531601|C10.292.562.700.250/C531601|C11.590.436.200/C531601|C11.710.800.180/C531601 C10.177.045|C10.292.562.700.250|C11.590.436.200|C11.710.800.180 Eye disease|Nervous system disease TONNE-KALSCHEUER SYNDROME OMIM:300978 DO:DOID:0112042 MESH:D038901 C10.597.606.360.455/300978|C16.320.322.500/300978|C16.320.400.525/300978 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT HAND AND FOOT ANOMALIES, GENITAL ANOMALIES, OR CONGENITAL DIAPHRAGMATIC HERNIA|MENTAL RETARDATION, X-LINKED 61|MRX61|TOKAS Genetic disease (inborn)|Nervous system disease Tonoki syndrome MESH:C536967 MESH:D006130|MESH:D008607|MESH:D009264|MESH:D059327 C05.660.585.262/C536967|C10.597.606.360/C536967|C16.131.621.585.262/C536967|C23.300.820/C536967|C23.550.393/C536967|C23.888.592.604.646/C536967|F03.625.539/C536967 C05.660.585.262|C10.597.606.360|C16.131.621.585.262|C23.300.820|C23.550.393|C23.888.592.604.646|F03.625.539 Short stature, brachydactyly, nail dysplasia, and mental retardation Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms Tonsillar Neoplasms MESH:D014067 DO:DOID:8858 Tumors or cancer of the PALATINE TONSIL. MESH:D009959 C04.588.443.665.710.684.800|C07.550.745.671.800|C09.647.710.685.800|C09.775.549.685.800 C04.588.443.665.710.684|C07.550.745.671|C09.647.710.685|C09.775.549.685 Cancer of the Tonsil|Cancer of Tonsil|Cancers, Tonsil|Cancers, Tonsillar|Cancer, Tonsil|Cancer, Tonsillar|Neoplasms, Tonsil|Neoplasms, Tonsillar|Neoplasm, Tonsil|Neoplasm, Tonsillar|Tonsil Cancer|Tonsil Cancers|Tonsillar Cancer|Tonsillar Cancers|Tonsillar Neoplasm|Tonsil Neoplasm|Tonsil Neoplasms Cancer|Ear-nose-throat disease|Mouth disease Tonsillitis MESH:D014069 DO:DOID:10456 Inflammation of the tonsils, especially the PALATINE TONSILS but the ADENOIDS (pharyngeal tonsils) and lingual tonsils may also be involved. Tonsillitis usually is caused by bacterial infection. Tonsillitis may be acute, chronic, or recurrent. MESH:D010612 C01.748.561.750|C07.550.781.750|C08.730.561.750|C09.775.649.750 C01.748.561|C07.550.781|C08.730.561|C09.775.649 Tonsillitides Ear-nose-throat disease|Mouth disease|Respiratory tract disease Tooth Abnormalities MESH:D014071 Congenital absence of or defects in structures of the teeth. MESH:D014076|MESH:D018640 C07.650.800|C07.793.700|C16.131.850.800 C07.650|C07.793|C16.131.850 Abnormalities, Teeth|Abnormalities, Tooth|Abnormality, Teeth|Abnormality, Tooth|Odontome|Odontomes|Teeth Abnormalities|Teeth Abnormality|Tooth Abnormality Congenital abnormality|Mouth disease Tooth Abrasion MESH:D014072 The pathologic wearing away of the tooth substance by brushing, bruxism, clenching, and other mechanical causes. It is differentiated from TOOTH ATTRITION in that this type of wearing away is the result of tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces. It differs also from TOOTH EROSION, the progressive loss of the hard substance of a tooth by chemical processes not involving bacterial action. (From Jablonski, Dictionary of Dentistry, 1992, p2) MESH:D057085 C07.793.818.124 C07.793.818 Abrasion, Dental|Abrasion, Tooth|Dental Abrasion Mouth disease Toothache MESH:D014098 Pain in the adjacent areas of the teeth. MESH:D005157|MESH:D014076 C07.793.929|C23.888.592.612.330.500 C07.793|C23.888.592.612.330 Odontalgia|Odontalgias|Toothaches Mouth disease|Signs and symptoms Tooth Agenesis, Selective, 2 MESH:C566513 OMIM:602639 MESH:D000848 C07.650.800.100/C566513|C07.793.700.100/C566513|C16.131.850.800.100/C566513 C07.650.800.100|C07.793.700.100|C16.131.850.800.100 HYD2|Hypodontia-Oligodontia 2|HYPODONTIA/OLIGODONTIA 2|STHAG2 Congenital abnormality|Mouth disease Tooth Agenesis, Selective, 3 MESH:C567036 OMIM:604625 MESH:D000848 C07.650.800.100/C567036|C07.793.700.100/C567036|C16.131.850.800.100/C567036 C07.650.800.100|C07.793.700.100|C16.131.850.800.100 Hypodontia-Oligodontia 3|HYPODONTIA/OLIGODONTIA 3|STHAG3 Congenital abnormality|Mouth disease Tooth Agenesis, Selective, 4 MESH:C563634 OMIM:150400 MESH:D000848 C07.650.800.100/C563634|C07.793.700.100/C563634|C16.131.850.800.100/C563634 C07.650.800.100|C07.793.700.100|C16.131.850.800.100 Lateral Incisors, Absence of|Lateral Incisors, Pegged or Missing|STHAG4|Succedaneous Teeth, Agenesis Of|TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA Congenital abnormality|Mouth disease Tooth Agenesis, Selective, 5 MESH:C565757 OMIM:610926 MESH:D000848 C07.650.800.100/C565757|C07.793.700.100/C565757|C16.131.850.800.100/C565757 C07.650.800.100|C07.793.700.100|C16.131.850.800.100 He-Zhao Deficiency|Hypodontia-Oligodontia 5|HYPODONTIA/OLIGODONTIA 5|STHAG5 Congenital abnormality|Mouth disease Tooth Agenesis, Selective, 6 MESH:C567755 OMIM:601216 MESH:D000848 C07.650.800.100/C567755|C07.793.700.100/C567755|C16.131.850.800.100/C567755 C07.650.800.100|C07.793.700.100|C16.131.850.800.100 DASS|DENTAL ANOMALIES AND SHORT STATURE|PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA|STHAG6|STHAG6, FORMERLY|TOOTH AGENESIS, SELECTIVE, 6, FORMERLY|VBS|VERLOES-BOURGUIGNON SYNDROME Congenital abnormality|Mouth disease TOOTH AGENESIS, SELECTIVE, 7 OMIM:616724 MESH:D014071 C07.650.800/616724|C07.793.700/616724|C16.131.850.800/616724 C07.650.800|C07.793.700|C16.131.850.800 STHAG7 Congenital abnormality|Mouth disease TOOTH AGENESIS, SELECTIVE, 8 OMIM:617073 MESH:D014071 C07.650.800/617073|C07.793.700/617073|C16.131.850.800/617073 C07.650.800|C07.793.700|C16.131.850.800 STHAG8 Congenital abnormality|Mouth disease TOOTH AGENESIS, SELECTIVE, 9 OMIM:617275 MESH:D014071 C07.650.800/617275|C07.793.700/617275|C16.131.850.800/617275 C07.650.800|C07.793.700|C16.131.850.800 STHAG9 Congenital abnormality|Mouth disease Tooth Agenesis, Selective, With Orofacial Cleft MESH:C566994 MESH:D000848|MESH:D002971|MESH:D002972 C05.500.460.185/C566994|C05.660.207.540.460.185/C566994|C07.320.440.185/C566994|C07.465.409.225/C566994|C07.465.525.164/C566994|C07.465.525.185/C566994|C07.650.500.460.185/C566994|C07.650.525.164/C566994|C07.650.525.185/C566994|C07.650.800.100/C566994|C07.793.700.100/C566994|C16.131.621.207.540.460.185/C566994|C16.131.850.500.460.185/C566994|C16.131.850.525.164/C566994|C16.131.850.525.185/C566994|C16.131.850.800.100/C566994 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C07.650.800.100|C07.793.700.100|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C16.131.850.800.100 Congenital abnormality|Mouth disease|Musculoskeletal disease Tooth Agenesis, Selective, X-Linked, 1 MESH:C567060 OMIM:313500 MESH:D000848|MESH:D040181 C07.650.800.100/C567060|C07.793.700.100/C567060|C16.131.850.800.100/C567060|C16.320.322/C567060 C07.650.800.100|C07.793.700.100|C16.131.850.800.100|C16.320.322 Hypodontia-Oligodontia, X-Linked, 1|HYPODONTIA/OLIGODONTIA, X-LINKED, 1|STHAGX1 Congenital abnormality|Genetic disease (inborn)|Mouth disease Tooth Ankylosis MESH:D020254 DO:DOID:12661 Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992) MESH:D014076 C07.793.710 C07.793 Ankyloses, Dental|Ankyloses, Dentoalveolar|Ankyloses, Tooth|Ankylosis, Dental|Ankylosis, Dentoalveolar|Ankylosis of Teeth|Ankylosis, Tooth|Dental Ankyloses|Dental Ankylosis|Dentoalveolar Ankyloses|Dentoalveolar Ankylosis|Teeth Ankyloses|Teeth Ankylosis|Tooth Ankyloses Mouth disease Tooth Attrition MESH:D019217 The wearing away of a tooth as a result of tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces. It is chiefly associated with aging. It is differentiated from TOOTH ABRASION (the pathologic wearing away of the tooth substance by friction, as brushing, bruxism, clenching, and other mechanical causes) and from TOOTH EROSION (the loss of substance caused by chemical action without bacterial action). (Jablonski, Dictionary of Dentistry, 1992, p86) MESH:D057085 C07.793.818.249 C07.793.818 Attrition, Dental|Attrition, Tooth|Dental Attrition|Dental Attritions|Occlusal Wear|Occlusal Wears|Wear, Occlusal|Wears, Occlusal Mouth disease Tooth Avulsion MESH:D014084 Partial or complete displacement of a tooth from its alveolar support. It is commonly the result of trauma. (From Boucher's Clinical Dental Terminology, 4th ed, p312) MESH:D018677 C07.793.850.725|C26.900.725 C07.793.850|C26.900 Avulsed Tooth|Avulsions, Tooth|Avulsion, Tooth|Dislocations, Tooth|Dislocation, Tooth|Luxations, Tooth|Luxation, Tooth|Tooth, Avulsed|Tooth Avulsions|Tooth Dislocation|Tooth Dislocations|Tooth Luxation|Tooth Luxations Mouth disease|Wounds and injuries Tooth Demineralization MESH:D017001 A tooth's loss of minerals, such as calcium in hydroxyapatite from the tooth matrix, caused by acidic exposure. An example of the occurrence of demineralization is in the formation of dental caries. MESH:D014076 C07.793.720 C07.793 Demineralization, Tooth Mouth disease Tooth Discoloration MESH:D014075 Any change in the hue, color, or translucency of a tooth due to any cause. Restorative filling materials, drugs (both topical and systemic), pulpal necrosis, or hemorrhage may be responsible. (Jablonski, Dictionary of Dentistry, 1992, p253) MESH:D014076 C07.793.735 C07.793 Discolorations, Tooth|Discoloration, Tooth|Tooth Discolorations Mouth disease Tooth Diseases MESH:D014076 DO:DOID:1091 Diseases involving the TEETH. MESH:D009057 C07.793 C07 Diseases, Tooth|Disease, Tooth|Tooth Disease Mouth disease Tooth Erosion MESH:D014077 DO:DOID:2498 Progressive loss of the hard substance of a tooth by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296) MESH:D017001|MESH:D057085 C07.793.720.605|C07.793.818.500 C07.793.720|C07.793.818 Dental Enamel Erosion|Dental Enamel Erosions|Dental Erosion|Dental Erosions|Enamel Erosion, Dental|Erosion, Dental|Erosion, Dental Enamel|Erosion, Tooth|Tooth Erosions Mouth disease Tooth Eruption, Ectopic MESH:D014079 An abnormality in the direction of a TOOTH ERUPTION. MESH:D014076 C07.793.790 C07.793 Ectopic Tooth Eruption|Ectopic Tooth Eruptions|Eruption, Ectopic Tooth|Eruptions, Ectopic Tooth|Tooth Eruptions, Ectopic Mouth disease Tooth Fractures MESH:D014082 Break or rupture of a tooth or tooth root. MESH:D018677 C07.793.850.750|C26.900.750 C07.793.850|C26.900 Fractures, Tooth|Fracture, Tooth|Tooth Fracture Mouth disease|Wounds and injuries Tooth, Impacted MESH:D014095 A tooth that is prevented from erupting by a physical barrier, usually other teeth. Impaction may also result from orientation of the tooth in an other than vertical position in the periodontal structures. MESH:D014076 C07.793.905 C07.793 Impacted Teeth|Impacted Tooth|Teeth, Impacted Mouth disease Tooth Injuries MESH:D018677 Traumatic or other damage to teeth including fractures (TOOTH FRACTURES) or displacements (TOOTH LUXATION). MESH:D014076|MESH:D014947 C07.793.850|C26.900 C07.793|C26 Injuries, Teeth|Injuries, Tooth|Injury, Teeth|Injury, Tooth|Teeth Injuries|Teeth Injury|Tooth Injury Mouth disease|Wounds and injuries Tooth Loss MESH:D016388 The failure to retain teeth as a result of disease or injury. MESH:D010510|MESH:D014076 C07.465.714.804|C07.793.870 C07.465.714|C07.793 Loss, Tooth Mouth disease Tooth Migration MESH:D014085 The movement of teeth into altered positions in relationship to the basal bone of the ALVEOLAR PROCESS and to adjoining and opposing teeth as a result of loss of approximating or opposing teeth, occlusal interferences, habits, inflammatory and dystrophic disease of the attaching and supporting structures of the teeth. (From Boucher's Clinical Dental Terminology, 4th ed) MESH:D010510 C07.465.714.836 C07.465.714 Migration, Tooth|Tooth Drift|Tooth Drifting Mouth disease Tooth Mobility MESH:D014086 Horizontal and, to a lesser degree, axial movement of a tooth in response to normal forces, as in occlusion. It refers also to the movability of a tooth resulting from loss of all or a portion of its attachment and supportive apparatus, as seen in periodontitis, occlusal trauma, and periodontosis. (From Jablonski, Dictionary of Dentistry, 1992, p507 & Boucher's Clinical Dental Terminology, 4th ed, p313) MESH:D010510 C07.465.714.898 C07.465.714 Mobilities, Tooth|Mobility, Tooth|Tooth Mobilities Mouth disease Tooth, Nonvital MESH:D019553 A tooth from which the dental pulp has been removed or is necrotic. (Boucher, Clinical Dental Terminology, 4th ed) MESH:D003788 C07.793.237.910 C07.793.237 Devitalized Teeth|Devitalized Tooth|Endodontically-Treated Teeth|Endodontically-Treated Tooth|Nonvital Teeth|Nonvital Tooth|Pulpless Teeth|Pulpless Tooth|Teeth, Devitalized|Teeth, Endodontically Treated|Teeth, Endodontically-Treated|Teeth, Nonvital|Teeth, Pulpless|Tooth, Devitalized|Tooth, Endodontically Treated|Tooth, Endodontically-Treated|Tooth, Pulpless Mouth disease Tooth Resorption MESH:D014091 DO:DOID:13240 Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676) MESH:D014076 C07.793.901 C07.793 Resorptions, Tooth|Resorption, Tooth|Tooth Resorptions Mouth disease Tooth, Supernumerary MESH:D014096 An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption. MESH:D014071 C07.650.800.850|C07.793.700.850|C16.131.850.800.850 C07.650.800|C07.793.700|C16.131.850.800 Fourth Molar|Fourth Molars|Molar, Fourth|Molars, Fourth|Supernumerary Teeth|Supernumerary Tooth|Teeth, Supernumerary Congenital abnormality|Mouth disease Tooth, Unerupted MESH:D014097 A normal developing tooth which has not yet perforated the oral mucosa or one that fails to erupt in the normal sequence or time interval expected for the type of tooth in a given gender, age, or population group. MESH:D014076 C07.793.915 C07.793 Teeth, Unerupted|Unerupted Teeth|Unerupted Tooth Mouth disease Tooth Wear MESH:D057085 Loss of the tooth substance by chemical or mechanical processes MESH:D014076 C07.793.818 C07.793 Dental Wear|Dental Wears|Tooth Wears|Wear, Dental|Wears, Dental|Wears, Tooth|Wear, Tooth Mouth disease Torovirus Infections MESH:D018176 Infections with viruses of the genus TOROVIRUS, family CORONAVIRIDAE. MESH:D003333 C01.925.782.600.550.800 C01.925.782.600.550 Infections, Torovirus|Infection, Torovirus|Torovirus Infection Viral disease Torsades de Pointes MESH:D016171 A malignant form of polymorphic ventricular tachycardia that is characterized by HEART RATE between 200 and 250 beats per minute, and QRS complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long QT intervals exceeding 500 milliseconds or BRADYCARDIA. Torsades de pointes may be self-limited or may progress to VENTRICULAR FIBRILLATION. MESH:D017180 C14.280.067.845.940.700|C14.280.123.875.940.700|C23.550.073.845.940.700 C14.280.067.845.940|C14.280.123.875.940|C23.550.073.845.940 de Pointes, Torsade|de Pointes, Torsades|Pointes, Torsade de|Pointes, Torsades de|Torsade de Pointes Cardiovascular disease|Pathology (process) Torsion Abnormality MESH:D014102 An abnormal twisting or rotation of a bodily part or member on its axis. MESH:D020763 C23.300.970 C23.300 Abnormalities, Torsion|Abnormality, Torsion|Torsion Abnormalities Pathology (anatomical condition) Torsion dystonia with onset in infancy MESH:C536969 DO:DOID:0090058 MESH:D004421|MESH:D005124 C10.597.350.300/C536969|C11.250/C536969|C16.131.384/C536969|C23.888.592.350.300/C536969 C10.597.350.300|C11.250|C16.131.384|C23.888.592.350.300 Autosomal dominant torsion dystonia with onset in infancy Congenital abnormality|Eye disease|Nervous system disease|Signs and symptoms Torticollis MESH:D014103 A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors. MESH:D004421 C23.888.592.350.300.800 C23.888.592.350.300 Cervical Dystonia|Cervical Dystonias|Dystonia, Cervical|Dystonias, Cervical|Intermittent Torticollis|Psychogenic Torticollis|Spasmodic Torticollis|Torticollis, Intermittent|Torticollis, Psychogenic|Torticollis, Spasmodic|Wryneck Signs and symptoms Torticollis keloids cryptorchidism renal dysplasia MESH:C536970 OMIM:314300 MESH:D003456|MESH:D007627|MESH:D014103|MESH:D040181 C12.100.500.829.258/C536970|C12.200.294.829.258/C536970|C12.200.706.258/C536970|C12.800.258/C536970|C16.131.939.258/C536970|C16.320.322/C536970|C17.300.200.425/C536970|C19.391.829.258/C536970|C23.550.355.274.510/C536970|C23.888.592.350.300.800/C536970 C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.800.258|C16.131.939.258|C16.320.322|C17.300.200.425|C19.391.829.258|C23.550.355.274.510|C23.888.592.350.300.800 Goeminne syndrome|TKC|TKCR|TKCR SYNDROME|Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia Congenital abnormality|Connective tissue disease|Endocrine system disease|Genetic disease (inborn)|Pathology (process)|Signs and symptoms|Urogenital disease (male) Torulopsis MESH:C536972 MESH:D002177 C01.150.703.160/C536972 C01.150.703.160 Neonatal Torulopsis glabrata Fungemia Bacterial infection or mycosis Torus Palatinus and Torus Mandibularis MESH:C566043 MESH:D005096 C05.116.540.310/C566043 C05.116.540.310 Musculoskeletal disease Total Hypotrichosis, Mari type MESH:C536973 MESH:D000505 C17.800.329.937.122/C536973|C23.300.035/C536973 C17.800.329.937.122|C23.300.035 Alopecia Universalis Congenita, Mari type|Hypotrichosis, Autosomal Recessive|Hypotrichosis, Localized, Autosomal Recessive, 2|Hypotrichosis, Total, Mari Type|Mari type Alopecia universalis congenita Pathology (anatomical condition)|Skin disease Tourette Syndrome MESH:D005879 DO:DOID:11119|OMIM:137580 A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79) MESH:D001480|MESH:D013981|MESH:D020271 C10.228.140.079.898|C10.228.662.825.800|C10.574.500.850|C16.320.400.820|F03.625.992.850 C10.228.140.079|C10.228.662.825|C10.574.500|C16.320.400|F03.625.992 Chronic Motor and Vocal Tic Disorder|Combined Multiple Motor and Vocal Tic Disorder|Combined Vocal and Multiple Motor Tic Disorder|Gilles de la Tourette Disorder|Gilles de la Tourette's Disease|Gilles De La Tourette's Syndrome|Gilles de la Tourette Syndrome|GTS|Multiple Motor and Vocal Tic Disorder, Combined|Syndrome, Tourette|Tic Disorder, Combined Vocal and Multiple Motor|Tourette Disease|Tourette Disorder|TOURETTE DISORDER CHRONIC MOTOR TICS, INCLUDED|Tourette's Disease|Tourettes Disease|Tourette's Disorder|Tourettes Disorder|Tourette's Syndrome|Tourettes Syndrome|TOURETTE SYNDROME|TS Genetic disease (inborn)|Mental disorder|Nervous system disease Townes-Brocks-Branchiootorenal-Like Syndrome MESH:C566272 MESH:D000015|MESH:D001006|MESH:D006319 C06.198.050/C566272|C09.218.458.341.887/C566272|C10.597.751.418.341.887/C566272|C16.131.077/C566272|C16.131.314.094/C566272|C23.888.592.763.393.341.887/C566272 C06.198.050|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.077|C16.131.314.094|C23.888.592.763.393.341.887 Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Townes-Brocks syndrome MESH:C536974 DO:DOID:0050887|OMIM:107480|OMIM:617466 MESH:D000015|MESH:D001006|MESH:D006319 C06.198.050/C536974|C09.218.458.341.887/C536974|C10.597.751.418.341.887/C536974|C16.131.077/C536974|C16.131.314.094/C536974|C23.888.592.763.393.341.887/C536974 C06.198.050|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.077|C16.131.314.094|C23.888.592.763.393.341.887 Anal-Ear-Renal-Radial Malformation Syndrome|Anus, Imperforate, with Hand, Foot, and Ear Anomalies|Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome|Deafness, sensorineural, with imperforate anus and hypoplastic thumbs|Deafness, Sensorineural, With Imperforate Anus And Thumb Anomalies|DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED|Imperforate Anus-Hand and Foot Anomalies Syndrome|REAR syndrome|Renal-ear-anal-radial syndrome|Renal-Ear-Anal-Radial Syndrome (Rear)|Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome|TBS1|TBS2|TOWNES-BROCKS SYNDROME 1|TOWNES-BROCKS SYNDROME 2|Townes Syndrome Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms Toxascariasis MESH:D017227 DO:DOID:3107 Infections with nematodes of the genus TOXASCARIS. MESH:D017191 C01.610.335.508.700.100.850 C01.610.335.508.700.100 Toxascariases Parasitic disease Toxemia MESH:D014115 A condition produced by the presence of toxins or other harmful substances in the BLOOD. MESH:D007239 C01.861 C01 Toxemias Toxic Optic Neuropathy MESH:D000081028 DO:DOID:13329 Damage to the eye or its function (e.g., VISUAL IMPAIRMENT) due to OPTIC NERVE damage secondary to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION. MESH:D010335|MESH:D011832|MESH:D020221|MESH:D064420 C10.292.200.750.500|C10.292.700.475.500|C10.900.300.218.550.500|C11.640.530.500|C23.550.877|C25.100.937|C26.733.902 C10.292.200.750|C10.292.700.475|C10.900.300.218.550|C11.640.530|C23.550|C25.100|C26.733 Neuropathy, Toxic Optic|Ocular Toxicity|Optic Neuropathy, Toxic|Toxicity, Ocular|Toxic Optic Neuropathies Eye disease|Nervous system disease|Pathology (process)|Wounds and injuries Toxocara canis infection (canine roundworms) MESH:C531834 MESH:D014120 C01.610.335.349.868/C531834|C01.610.335.508.700.100.868/C531834|C01.610.701.377.868/C531834|C22.674.377.868/C531834 C01.610.335.349.868|C01.610.335.508.700.100.868|C01.610.701.377.868|C22.674.377.868 Human infection with the larvae of canine or feline roundworms|Toxocara catis infection (feline roundworms) Animal disease|Parasitic disease Toxocariasis MESH:D014120 Infection by round worms of the genus TOXOCARA, usually found in wild and domesticated cats and dogs and foxes, except for the larvae, which may produce visceral and ocular larva migrans in man. MESH:D006374|MESH:D017191 C01.610.335.349.868|C01.610.335.508.700.100.868|C01.610.701.377.868|C22.674.377.868 C01.610.335.349|C01.610.335.508.700.100|C01.610.701.377|C22.674.377 Toxocariases Animal disease|Parasitic disease Toxoplasmosis MESH:D014123 DO:DOID:9965 The acquired form of infection by Toxoplasma gondii in animals and man. MESH:D003048 C01.610.752.250.800 C01.610.752.250 Infection, Toxoplasma gondii|Toxoplasma gondii Infection Parasitic disease Toxoplasmosis, Animal MESH:D014124 Acquired infection of non-human animals by organisms of the genus TOXOPLASMA. MESH:D011529|MESH:D014123 C01.610.701.688.817|C01.610.752.250.800.110|C01.610.752.625.817|C22.674.710.817 C01.610.701.688|C01.610.752.250.800|C01.610.752.625|C22.674.710 Animal Toxoplasmoses|Animal Toxoplasmosis|Toxoplasmoses, Animal Animal disease|Parasitic disease Toxoplasmosis, Cerebral MESH:D016781 Infections of the BRAIN caused by the protozoan TOXOPLASMA gondii that primarily arise in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES (see also AIDS-RELATED OPPORTUNISTIC INFECTIONS). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include SEIZURES, altered mentation, headache, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3) MESH:D001922|MESH:D014123|MESH:D020808 C01.207.090.800|C01.207.205.300.800|C01.610.105.300.800|C01.610.752.250.800.250|C01.830.025.160.800|C10.228.140.116.800|C10.228.228.090.800|C10.228.228.205.300.800 C01.207.090|C01.207.205.300|C01.610.105.300|C01.610.752.250.800|C01.830.025.160|C10.228.140.116|C10.228.228.090|C10.228.228.205.300 Central Nervous System Toxoplasmosis|Cerebral Toxoplasmosis|Intracranial Toxoplasmosis|Neurotoxoplasmosis|Toxoplasmoses, Cerebral|Toxoplasmosis, Central Nervous System|Toxoplasmosis, Intracranial Nervous system disease|Parasitic disease Toxoplasmosis, Congenital MESH:D014125 DO:DOID:13336 Prenatal protozoal infection with TOXOPLASMA gondii which is associated with injury to the developing fetal nervous system. The severity of this condition is related to the stage of pregnancy during which the infection occurs; first trimester infections are associated with a greater degree of neurologic dysfunction. Clinical features include HYDROCEPHALUS; MICROCEPHALY; deafness; cerebral calcifications; SEIZURES; and psychomotor retardation. Signs of a systemic infection may also be present at birth, including fever, rash, and hepatosplenomegaly. (From Adams et al., Principles of Neurology, 6th ed, p735) MESH:D007232|MESH:D014123|MESH:D020808 C01.207.205.300.900|C01.610.752.250.800.445|C10.228.228.205.300.900|C16.614.909 C01.207.205.300|C01.610.752.250.800|C10.228.228.205.300|C16.614 Congenital Infection, Toxoplasma gondii|Congenital Toxoplasma gondii Infection|Congenital Toxoplasma Infection|Congenital Toxoplasma Infections|Congenital Toxoplasmoses|Congenital Toxoplasmosis|Fetal Toxoplasmoses|Fetal Toxoplasmosis|Infection, Congenital Toxoplasma|Infections, Congenital Toxoplasma|Prenatal Toxoplasmoses|Prenatal Toxoplasmosis|Toxoplasma Infection, Congenital|Toxoplasma Infections, Congenital|Toxoplasmoses, Congenital|Toxoplasmoses, Fetal|Toxoplasmoses, Prenatal|Toxoplasmosis, Fetal|Toxoplasmosis, Prenatal Infant-newborn disease|Nervous system disease|Parasitic disease Toxoplasmosis, Ocular MESH:D014126 Infection caused by the protozoan parasite TOXOPLASMA in which there is extensive connective tissue proliferation, the retina surrounding the lesions remains normal, and the ocular media remain clear. Chorioretinitis may be associated with all forms of toxoplasmosis, but is usually a late sequel of congenital toxoplasmosis. The severe ocular lesions in infants may lead to blindness. MESH:D014123|MESH:D015822 C01.610.300.781|C01.610.752.250.800.640|C11.294.725.781 C01.610.300|C01.610.752.250.800|C11.294.725 Ocular Toxoplasmoses|Ocular Toxoplasmosis|Toxoplasmoses, Ocular Eye disease|Parasitic disease Tracheal agenesis MESH:C536975 MESH:D003251 C23.300.287/C536975 C23.300.287 Congenital tracheal agenesis Pathology (anatomical condition) Tracheal agenesis without tracheoesophageal fistula MESH:C536976 MESH:D055090 C05.182.895.500/C536976|C08.907.796.500/C536976|C16.131.621.953.500/C536976|C17.300.182.895.500/C536976 C05.182.895.500|C08.907.796.500|C16.131.621.953.500|C17.300.182.895.500 Type 2 tracheal agenesis Congenital abnormality|Connective tissue disease|Musculoskeletal disease|Respiratory tract disease Tracheal Diseases MESH:D014133 DO:DOID:3225 Diseases involving the TRACHEA. MESH:D012140 C08.907 C08 Diseases, Tracheal|Disease, Tracheal|Tracheal Disease Respiratory tract disease Tracheal Neoplasms MESH:D014134 DO:DOID:248 New abnormal growth of tissue in the TRACHEA. MESH:D006258|MESH:D012142|MESH:D014133 C04.588.443.925|C04.588.894.797.760|C08.785.760|C08.907.563 C04.588.443|C04.588.894.797|C08.785|C08.907 Neoplasms, Tracheal|Neoplasm, Tracheal|Tracheal Neoplasm Cancer|Respiratory tract disease Tracheal Stenosis MESH:D014135 DO:DOID:3227 A pathological narrowing of the TRACHEA. MESH:D014133 C08.907.663 C08.907 Stenoses, Tracheal|Stenosis, Tracheal|Tracheal Stenoses Respiratory tract disease Tracheitis MESH:D014136 DO:DOID:9392 INFLAMMATION of the TRACHEA that is usually associated with RESPIRATORY TRACT INFECTIONS. MESH:D012141|MESH:D014133 C01.748.848|C08.730.848|C08.907.763 C01.748|C08.730|C08.907 Tracheitides Respiratory tract disease Tracheobronchial Stenosis, Congenital MESH:C566362 MESH:D001982|MESH:D003251|MESH:D014135 C08.127/C566362|C08.907.663/C566362|C23.300.287/C566362 C08.127|C08.907.663|C23.300.287 Pathology (anatomical condition)|Respiratory tract disease Tracheobronchomalacia MESH:D055089 A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA and the BRONCHI. This results in a floppy non-rigid airway making patency difficult to maintain. MESH:D001982|MESH:D002357|MESH:D009139|MESH:D014133 C05.182.895|C08.127.719|C08.907.796|C16.131.621.953|C17.300.182.895 C05.182|C08.127|C08.907|C16.131.621|C17.300.182 Chondromalacia of Trachea and Bronchi|Syndrome, Williams-Campbell|Tracheobronchomalacias|Williams Campbell Syndrome|Williams-Campbell Syndrome Congenital abnormality|Connective tissue disease|Musculoskeletal disease|Respiratory tract disease Tracheobronchomegaly MESH:D014137 A rare and probably congenital condition characterized by great enlargement of the lumen of the trachea and the larger bronchi. MESH:D001982|MESH:D014133|MESH:D015619 C08.127.930|C08.695.830|C08.907.830|C16.131.740.830 C08.127|C08.695|C08.907|C16.131.740 Congenital Tracheobronchomegalies|Congenital Tracheobronchomegaly|Mounier Kuhn Syndrome|Mounier-Kuhn Syndrome|Tracheobronchomegalies|Tracheobronchomegalies, Congenital|Tracheobronchomegaly, Congenital Congenital abnormality|Respiratory tract disease Tracheobronchopathia osteoplastica MESH:C536977 MESH:D010009|MESH:D014133 C05.116.099.708/C536977|C08.907/C536977|C16.320.728/C536977 C05.116.099.708|C08.907|C16.320.728 Cartilaginous or bony projections into the tracheobronchial lumen|Tracheobronchopathia Osteochondroplastica|Tracheopathia osteoplastica Genetic disease (inborn)|Musculoskeletal disease|Respiratory tract disease Tracheoesophageal Fistula MESH:D014138 Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA. MESH:D004937|MESH:D014133|MESH:D016156 C06.267.250.725|C06.405.117.367.725|C08.702.750|C08.907.863|C23.300.575.185.250.725 C06.267.250|C06.405.117.367|C08.702|C08.907|C23.300.575.185.250 Esophagotracheal Fistula|Esophagotracheal Fistulas|Fistula, Esophagotracheal|Fistulas, Esophagotracheal|Fistulas, Tracheoesophageal|Fistula, Tracheoesophageal|Tracheoesophageal Fistulas Digestive system disease|Pathology (anatomical condition)|Respiratory tract disease Tracheomalacia MESH:D055090 A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA. This results in a floppy tracheal wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing. MESH:D055089 C05.182.895.500|C08.907.796.500|C16.131.621.953.500|C17.300.182.895.500 C05.182.895|C08.907.796|C16.131.621.953|C17.300.182.895 Chondromalacia of Trachea|Trachea Chondromalacia|Trachea Chondromalacias|Tracheomalacias Congenital abnormality|Connective tissue disease|Musculoskeletal disease|Respiratory tract disease Trachoma MESH:D014141 DO:DOID:11265 A chronic infection of the CONJUNCTIVA and CORNEA caused by CHLAMYDIA TRACHOMATIS. MESH:D002690|MESH:D003234|MESH:D003316 C01.150.252.289.225.800|C01.150.252.400.210.125.745|C01.375.354.220.800|C11.187.183.220.889|C11.204.813|C11.294.354.220.800 C01.150.252.289.225|C01.150.252.400.210.125|C01.375.354.220|C11.187.183.220|C11.204|C11.294.354.220 Egyptian Ophthalmia|Ophthalmia, Egyptian|Trachomas Bacterial infection or mycosis|Eye disease Tram track sign brain MESH:C000721391 MESH:D013341 C04.557.645.375.850/C000721391|C10.562.800/C000721391|C14.907.077.850/C000721391 C04.557.645.375.850|C10.562.800|C14.907.077.850 Brain tram track sign Cancer|Cardiovascular disease|Nervous system disease Tram track sign chest MESH:C000721392 MESH:D001987 C08.127.384/C000721392 C08.127.384 Chest tram track sign Respiratory tract disease tram track sign optic nerve MESH:C000721389 MESH:D009901 C10.292.700/C000721389|C11.640/C000721389 C10.292.700|C11.640 Optic nerve tram track sign|tram track sign of optic nerve Eye disease|Nervous system disease Tranebjaerg Svejgaard syndrome MESH:C536978 MESH:D011565|MESH:D012640|MESH:D038901 C10.597.606.360.455/C536978|C10.597.742/C536978|C16.320.322.500/C536978|C16.320.400.525/C536978|C17.800.859.675/C536978|C23.888.592.742/C536978 C10.597.606.360.455|C10.597.742|C16.320.322.500|C16.320.400.525|C17.800.859.675|C23.888.592.742 Mental retardation X-linked, Tranebjaerg type seizures and psoriasis|X-linked mental retardation associated with psoriasis Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease Transaldolase Deficiency MESH:C563207 OMIM:606003 MESH:D002239 C16.320.565.202/C563207|C18.452.648.202/C563207 C16.320.565.202|C18.452.648.202 EYAID SYNDROME|TALDOD|TALDO DEFICIENCY Genetic disease (inborn)|Metabolic disease Transcobalamin I Deficiency MESH:C562798 MESH:D008661 C16.320.565/C562798|C18.452.648/C562798 C16.320.565|C18.452.648 Cobalamin Pseudodeficiency due to Transcobalamin Deficiency|Cobalamin R Binder Protein Deficiency|Transcobalamin I Deficiency With Lactoferrin Deficiency Genetic disease (inborn)|Metabolic disease TRANSCOBALAMIN II DEFICIENCY OMIM:275350 DO:DOID:0050818 MESH:D014806 C18.654.521.500.133.699.923/275350 C18.654.521.500.133.699.923 TC II DEFICIENCY|TCN2 DEFICIENCY Nutrition disorder Transfusion Reaction MESH:D065227 Complications of BLOOD TRANSFUSION. Included adverse reactions are common allergic and febrile reactions; hemolytic (delayed and acute) reactions; and other non-hemolytic adverse reactions such as infections and adverse immune reactions related to immunocompatibility. MESH:D006402|MESH:D007154 C15.378.962|C20.920 C15.378|C20 Acute Hemolytic Transfusion Reaction|Allergic Reaction, Transfusion-Associated|Blood Transfusion Associated Adverse Reactions|Blood Transfusion-Associated Adverse Reactions|Circulatory Overloads, Transfusion-Associated|Circulatory Overload, Transfusion-Associated|Delayed Hemolytic Transfusion Reaction|Delayed Serologic Transfusion Reaction|Dyspnea, Transfusion-Associated|Febrile Non Hemolytic Transfusion Reaction|Febrile Non-Hemolytic Transfusion Reaction|Hemolytic Transfusion Reaction|Hemolytic Transfusion Reactions|Hypotensive Transfusion Reaction|Infection, Transfusion-Transmitted|Posttransfusion Purpura|Post Transfusion Purpura|Post-Transfusion Purpura|Posttransfusion Purpuras|Purpura, Posttransfusion|Purpura, Post-Transfusion|Reaction, Hemolytic Transfusion|Reaction, Hypotensive Transfusion|Reactions, Hemolytic Transfusion|TAGHD|Transfusion Associated Allergic Reaction|Transfusion-Associated Allergic Reaction|Transfusion Associated Circulatory Overload|Transfusion-Associated Circulatory Overload|Transfusion-Associated Circulatory Overloads|Transfusion Associated Dyspnea|Transfusion-Associated Dyspnea|Transfusion Associated Graft Vs. Host Disease|Transfusion-Associated Graft Vs. Host Disease|Transfusion Reaction, Hemolytic|Transfusion Reaction, Hypotensive|Transfusion Reactions|Transfusion Reactions, Hemolytic|Transfusion Reactions, Hypotensive|Transfusion Transmitted Infection|Transfusion-Transmitted Infection|Transfusion-Transmitted Infections Blood disease|Immune system disease Transfusion-Related Acute Lung Injury MESH:D000073617 A rare but serious transfusion-related reaction in which fluid builds up in the lungs unrelated to excessively high infusion rate and/or volume (TRANSFUSION-ASSOCIATED CIRCULATORY OVERLOAD). Signs of Transfusion-Related Acute Lung Injury include pulmonary secretions; hypotension; fever; DYSPNEA; TACHYPNEA; TACHYCARDIA; and CYANOSIS. MESH:D055371|MESH:D065227 C08.381.520.500.500|C15.378.962.500|C20.920.500 C08.381.520.500|C15.378.962|C20.920 Acute Lung Injury, Transfusion Related|Acute Lung Injury, Transfusion-Related|TRALI|Transfusion Related Acute Lung Injury Blood disease|Immune system disease|Respiratory tract disease Transient antero-apical dyskinesia MESH:C538679 MESH:D054549 C14.280.238.906/C538679|C14.280.945.900.500/C538679 C14.280.238.906|C14.280.945.900.500 Cardiovascular disease Transient bullous dermolysis of the newborn MESH:C536979 DO:DOID:0111345|OMIM:131705 MESH:D016108 C16.131.831.493.160/C536979|C16.320.850.275.160/C536979|C17.300.200.367/C536979|C17.800.804.493.160/C536979|C17.800.827.275.160/C536979|C17.800.865.410.160/C536979 C16.131.831.493.160|C16.320.850.275.160|C17.300.200.367|C17.800.804.493.160|C17.800.827.275.160|C17.800.865.410.160 Dystrophic Epidermolysis Bullosa, Dominant Neonatal|DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL|Epidermolysis bullosa dystrophica, dominant neonatal form|EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM|TBDN Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease Transient erythroblastopenia of childhood MESH:C536980 OMIM:227050 MESH:D000745 C15.378.071.141.150/C536980|C16.320.070/C536980 C15.378.071.141.150|C16.320.070 Erythroblastopenia, transient|Familial transient erythroblastopenia of childhood|TEC Blood disease|Genetic disease (inborn) Transient Myeloproliferative Disorder of Down Syndrome MESH:C566024 MESH:D004314|MESH:D009196 C10.597.606.360.220/C566024|C15.378.190.636/C566024|C16.131.077.327/C566024|C16.131.260.260/C566024|C16.320.180.260/C566024 C10.597.606.360.220|C15.378.190.636|C16.131.077.327|C16.131.260.260|C16.320.180.260 Blood disease|Congenital abnormality|Genetic disease (inborn)|Nervous system disease Transient Tachypnea of the Newborn MESH:D059245 Abnormal increase in RESPIRATORY RATE in the newborn. It is self-limiting and attributed to the delayed fetal lung fluid clearance often in CAESAREAN SECTION delivery. MESH:D012127|MESH:D059246 C08.381.840.500.737|C08.618.840.500.737|C08.618.961.500|C16.614.521.563.737|C23.888.852.944.500 C08.381.840.500|C08.618.840.500|C08.618.961|C16.614.521.563|C23.888.852.944 Newborn Transient Tachypnea|Newborn Transient Tachypneas|Transient Tachypnea of Newborn Infant-newborn disease|Respiratory tract disease|Signs and symptoms Translocation, Genetic MESH:D014178 A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. MESH:D002869 C23.550.210.870 C23.550.210 Chromosomal Translocation|Chromosomal Translocations|Genetic Translocation|Genetic Translocations|Translocation, Chromosomal|Translocations, Chromosomal|Translocations, Genetic Pathology (process) Transposition of Great Vessels MESH:D014188 A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. Consequently, the pulmonary and the systemic circulations are parallel and not sequential, so that the venous return from the peripheral circulation is re-circulated by the right ventricle via aorta to the systemic circulation without being oxygenated in the lungs. This is a potentially lethal form of heart disease in newborns and infants. MESH:D006330 C14.240.400.915|C14.280.400.915|C16.131.240.400.915 C14.240.400|C14.280.400|C16.131.240.400 Dextro Looped Transposition of the Great Arteries|Dextro-Looped Transposition of the Great Arteries|Dextro TGA|Dextro-TGA|Dextro-TGAs|Dextrotransposition of Great Vessels|Great Arteries Transposition|Great Arteries Transpositions|Great Vessels Dextrotransposition|Great Vessels Dextrotranspositions|Great Vessels Levotransposition|Great Vessels Levotranspositions|Great Vessels Transposition|Great Vessels Transpositions|Levo Looped Transposition of the Great Arteries|Levo-Looped Transposition of the Great Arteries|Levo TGA|Levo-TGA|Levo-TGAs|Levotransposition of Great Vessels|Transposition of Great Arteries Cardiovascular disease|Congenital abnormality Transposition of the Great Arteries, Dextro-Looped 1 MESH:C563853 OMIM:608808 MESH:D014188 C14.240.400.915/C563853|C14.280.400.915/C563853|C16.131.240.400.915/C563853 C14.240.400.915|C14.280.400.915|C16.131.240.400.915 DTGA|DTGA1|TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED Cardiovascular disease|Congenital abnormality Transurethral resection syndrome MESH:C000721827 MESH:D011183|MESH:D014869 C18.452.950.932/C000721827|C23.550.767/C000721827|C25.723.932/C000721827 C18.452.950.932|C23.550.767|C25.723.932 Metabolic disease|Pathology (process) Transvestism MESH:D014190 DO:DOID:1233 Disorder characterized by recurrent, intense sexually arousing fantasies, sexual urges, or behaviors involving cross-dressing in a heterosexual male. The fantasies, urges, or behaviors cause clinically significant distress or impairment in social, occupational or other areas of functioning. (from APA, DSM-IV, 1994) MESH:D010262 F03.657.800 F03.657 Fetishisms, Transvestic|Fetishism, Transvestic|Transvestic Fetishism|Transvestic Fetishisms|Transvestisms Mental disorder Trauma and Stressor Related Disorders MESH:D000068099 Disorders in which exposure to a traumatic or stressful event is explicitly a diagnostic criterion. MESH:D001523 F03.950 F03 Trauma and Stress Related Disorders Mental disorder Trauma, Nervous System MESH:D020196 Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures. MESH:D009422|MESH:D014947 C10.900|C26.915 C10|C26 Axonotmeses|Axonotmesis|Craniocervical Injuries|Craniocervical Injury|Injuries, Nervous System|Nervous System Injuries|Nervous System Injury|Nervous System Trauma|Nervous System Traumas|Neurotmeses|Neurotmesis Nervous system disease|Wounds and injuries Travel-Related Illness MESH:D000076082 Health problems associated with TRAVEL. MESH:D012816 C23.888.914 C23.888 Diseases, Travel-Associated Infectious|Diseases, Travel-Related|Diseases, Travel-Related Infectious|Disease, Travel-Associated Infectious|Disease, Travel-Related|Disease, Travel-Related Infectious|Health Problems, Travel-Related|Health Problem, Travel-Related|Illnesses, Travel-Related|Illness, Travel-Related|Infections, Travel-Associated|Infections, Travel-Related|Infection, Travel-Associated|Infection, Travel-Related|Infectious Diseases, Travel-Associated|Infectious Diseases, Travel-Related|Infectious Disease, Travel-Associated|Infectious Disease, Travel-Related|Problems, Travel-Related Health|Problem, Travel-Related Health|Sicknesses, Travel|Sicknesses, Travel-Related|Sickness, Travel|Sickness, Travel-Related|Travel-Associated Infection|Travel Associated Infections|Travel-Associated Infections|Travel-Associated Infectious Disease|Travel Associated Infectious Diseases|Travel-Associated Infectious Diseases|Travel Related Disease|Travel-Related Disease|Travel-Related Diseases|Travel-Related Health Problem|Travel Related Health Problems|Travel-Related Health Problems|Travel Related Illness|Travel-Related Illnesses|Travel-Related Infection|Travel Related Infections|Travel-Related Infections|Travel-Related Infectious Disease|Travel Related Infectious Diseases|Travel-Related Infectious Diseases|Travel Related Sickness|Travel-Related Sickness|Travel-Related Sicknesses|Travel Sickness|Travel Sicknesses Signs and symptoms TREACHER COLLINS SYNDROME 2 OMIM:613717 DO:DOID:0080790 MESH:D008342 C05.116.099.370.231.576/613717|C05.660.207.231.576/613717|C11.270.147.750/613717|C16.131.621.207.231.576/613717 C05.116.099.370.231.576|C05.660.207.231.576|C11.270.147.750|C16.131.621.207.231.576 TCS2 Congenital abnormality|Eye disease|Musculoskeletal disease Treft Sanborn Carey syndrome MESH:C536544 MESH:D001259|MESH:D001763|MESH:D006319|MESH:D009135|MESH:D009886|MESH:D009896 C05.651/C536544|C09.218.458.341.887/C536544|C10.292.562.750/C536544|C10.292.700.225/C536544|C10.597.350.090/C536544|C10.597.622.447/C536544|C10.597.751.418.341.887/C536544|C10.668.491/C536544|C11.338.204/C536544|C11.590.472/C536544|C11.640.451/C536544|C23.888.592.350.090/C536544|C23.888.592.636.447/C536544|C23.888.592.763.393.341.887/C536544 C05.651|C09.218.458.341.887|C10.292.562.750|C10.292.700.225|C10.597.350.090|C10.597.622.447|C10.597.751.418.341.887|C10.668.491|C11.338.204|C11.590.472|C11.640.451|C23.888.592.350.090|C23.888.592.636.447|C23.888.592.763.393.341.887 Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Trehalase Deficiency MESH:C562603 OMIM:612119 MESH:D002239|MESH:D003967 C16.320.565.202/C562603|C18.452.648.202/C562603|C23.888.821.214/C562603 C16.320.565.202|C18.452.648.202|C23.888.821.214 Trehalose Intolerance Genetic disease (inborn)|Metabolic disease|Signs and symptoms Trematode Infections MESH:D014201 DO:DOID:884|DO:DOID:888 Infections caused by infestation with worms of the class Trematoda. MESH:D006373 C01.610.335.865 C01.610.335 Fasciolopsiases|Fasciolopsiasis|Infections, Trematode|Infection, Trematode|Metagonimiases|Metagonimiasis|Trematode Infection Parasitic disease Tremor MESH:D014202 Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE. MESH:D020820 C10.597.350.850|C23.888.592.350.850 C10.597.350|C23.888.592.350 Action Tremor|Action Tremors|Coarse Tremor|Coarse Tremors|Continuous Tremor|Continuous Tremors|Darkness Tremor|Darkness Tremors|Fine Tremor|Fine Tremors|Intention Tremor|Intention Tremors|Intermittent Tremor|Intermittent Tremors|Involuntary Quiver|Involuntary Quivers|Limb Tremor|Limb Tremors|Massive Tremor|Massive Tremors|Muscle Tremor|Muscle Tremors|Neonatal Tremor|Neonatal Tremors|Nerve Tremor|Nerve Tremors|Passive Tremor|Passive Tremors|Perioral Tremor|Perioral Tremors|Persistent Tremor|Persistent Tremors|Pill Rolling Tremor|Pill Rolling Tremors|Quiver, Involuntary|Resting Tremor|Resting Tremors|Rest Tremor|Rest Tremors|Saturnine Tremor|Saturnine Tremors|Semirhythmic Tremor|Semirhythmic Tremors|Senile Tremor|Senile Tremors|Static Tremor|Static Tremors|Tremor, Action|Tremor, Coarse|Tremor, Continuous|Tremor, Darkness|Tremor, Fine|Tremor, Intention|Tremor, Intermittent|Tremor, Limb|Tremor, Massive|Tremor, Muscle|Tremor, Neonatal|Tremor, Nerve|Tremor, Passive|Tremor, Perioral|Tremor, Persistent|Tremor, Pill Rolling|Tremor, Rest|Tremor, Resting|Tremors|Tremor, Saturnine|Tremor, Semirhythmic|Tremor, Senile|Tremor, Static Nervous system disease|Signs and symptoms Tremor hereditary essential, 1 MESH:C536545 OMIM:190300 MESH:D020329 C10.228.662.350/C536545 C10.228.662.350 ETM1|FET1|Tremor familial essential, 1|Tremor, Familial Essential, 1|Tremor, Hereditary Essential, 1 Nervous system disease Tremor hereditary essential, 2 MESH:C536546 OMIM:602134 MESH:D014202|MESH:D015417 C10.500.300/C536546|C10.574.500.495/C536546|C10.597.350.850/C536546|C10.668.829.800.300/C536546|C16.131.666.300/C536546|C16.320.400.375/C536546|C23.888.592.350.850/C536546 C10.500.300|C10.574.500.495|C10.597.350.850|C10.668.829.800.300|C16.131.666.300|C16.320.400.375|C23.888.592.350.850 ETM2|Tremor, Hereditary Essential, 2 Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Tremor, Hereditary Essential, 3 MESH:C566949 MESH:D020329 C10.228.662.350/C566949 C10.228.662.350 Nervous system disease TREMOR, HEREDITARY ESSENTIAL, 4 OMIM:614782 DO:DOID:0111431 MESH:D020329 C10.228.662.350/614782 C10.228.662.350 ETM4 Nervous system disease TREMOR, HEREDITARY ESSENTIAL, 5 OMIM:616736 DO:DOID:0111432 MESH:D020329 C10.228.662.350/616736 C10.228.662.350 ETM5 Nervous system disease Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus MESH:C567519 MESH:D006850|MESH:D020329 C10.228.140.602.750/C567519|C10.228.662.350/C567519 C10.228.140.602.750|C10.228.662.350 ETINPH Nervous system disease Tremor of Intention, Ataxia, and Lipofuscinosis MESH:C566038 MESH:D001259|MESH:D008064|MESH:D014202 C10.597.350.090/C566038|C10.597.350.850/C566038|C16.320.565.398.641/C566038|C18.452.584.563.641/C566038|C18.452.648.398.641/C566038|C23.888.592.350.090/C566038|C23.888.592.350.850/C566038 C10.597.350.090|C10.597.350.850|C16.320.565.398.641|C18.452.584.563.641|C18.452.648.398.641|C23.888.592.350.090|C23.888.592.350.850 Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Trench Fever MESH:D014205 DO:DOID:11101 An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by BARTONELLA QUINTANA and transmitted by the human louse. MESH:D001474 C01.150.252.400.126.100.800 C01.150.252.400.126.100 Bartonella quintana Infection|Bartonella quintana Infections|Fever, Trench|Infection, Bartonella quintana Bacterial infection or mycosis Treponemal Infections MESH:D014211 DO:DOID:13431 Infections with bacteria of the genus TREPONEMA. MESH:D013145|MESH:D016905 C01.150.252.400.794.840|C01.150.252.400.840 C01.150.252.400|C01.150.252.400.794 Bejel|Bejels|Infections, Treponemal|Infection, Treponemal|Treponemal Infection Bacterial infection or mycosis Tricarboxylic Acid Cycle, Defect of MESH:C564762 MESH:D000140|MESH:D020739 C10.228.140.163.100/C564762|C16.320.565.189/C564762|C18.452.076.176.180/C564762|C18.452.132.100/C564762|C18.452.648.189/C564762 C10.228.140.163.100|C16.320.565.189|C18.452.076.176.180|C18.452.132.100|C18.452.648.189 Genetic disease (inborn)|Metabolic disease|Nervous system disease Trichiasis MESH:D058457 A disease of the eye in which the eyelashes abnormally turn inwards toward the eyeball producing constant irritation caused by motion of the lids. MESH:D005141 C11.338.912 C11.338 Trichiases Eye disease Trichilemmal Cyst 1 MESH:C566458 OMIM:609649 MESH:D004814 C04.182.254/C566458 C04.182.254 PILAR CYST|Tricholemmal Cyst|TRICY1 Cancer Trichinellosis MESH:D014235 DO:DOID:9784 An infection with TRICHINELLA. It is caused by eating raw or undercooked meat that is infected with larvae of nematode worms TRICHINELLA genus. All members of the TRICHINELLA genus can infect human in addition to TRICHINELLA SPIRALIS, the traditional etiological agent. It is distributed throughout much of the world and is re-emerging in some parts as a public health hazard and a food safety problem. MESH:D017189 C01.610.335.508.100.275.882 C01.610.335.508.100.275 Human Trichinelloses|Human Trichinellosis|Trichinelliases|Trichinelliasis|Trichinelloses|Trichinelloses, Human|Trichinellosis, Human|Trichinoses|Trichinosis Parasitic disease Trichodental syndrome MESH:C536551 MESH:D004476|MESH:D008607|MESH:D008831|MESH:D018126 C05.660.207.620/C536551|C07.650.800.600/C536551|C07.793.700.600/C536551|C10.500.507.400.500/C536551|C10.597.606.360/C536551|C16.131.077.350/C536551|C16.131.621.207.620/C536551|C16.131.666.507.400.500/C536551|C16.131.831.350/C536551|C16.131.850.800.600/C536551|C16.320.850.250/C536551|C17.800.804.350/C536551|C17.800.827.250/C536551|C23.888.592.604.646/C536551|F03.625.539/C536551 C05.660.207.620|C07.650.800.600|C07.793.700.600|C10.500.507.400.500|C10.597.606.360|C16.131.077.350|C16.131.621.207.620|C16.131.666.507.400.500|C16.131.831.350|C16.131.850.800.600|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.888.592.604.646|F03.625.539 Tricho-dental dysplasia|Trichodental dysplasia|Tricho-dental syndrome Congenital abnormality|Genetic disease (inborn)|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Tricho-dento-osseous syndrome MESH:C536549 DO:DOID:0111565 MESH:D003744|MESH:D006201|MESH:D019465 C05.660.207/C536549|C07.650.800.295.625/C536549|C07.793.700.295.625/C536549|C16.131.621.207/C536549|C16.131.850.800.295.625/C536549|C17.800.329/C536549 C05.660.207|C07.650.800.295.625|C07.793.700.295.625|C16.131.621.207|C16.131.850.800.295.625|C17.800.329 Trichodentoosseous Syndrome Congenital abnormality|Mouth disease|Musculoskeletal disease|Skin disease TRICHODENTOOSSEOUS SYNDROME OMIM:190320 DO:DOID:0111565 MESH:D006201|MESH:D014071|MESH:D019465 C05.660.207/190320|C07.650.800/190320|C07.793.700/190320|C16.131.621.207/190320|C16.131.850.800/190320|C17.800.329/190320 C05.660.207|C07.650.800|C07.793.700|C16.131.621.207|C16.131.850.800|C17.800.329 TDO|TDO SYNDROME Congenital abnormality|Mouth disease|Musculoskeletal disease|Skin disease Tricho-dento-osseous syndrome 1 MESH:C536550 MESH:D000015|MESH:D001847|MESH:D003394|MESH:D006201|MESH:D014071 C05.116.099.370.231/C536550|C05.116/C536550|C05.660.207.231/C536550|C07.650.800/C536550|C07.793.700/C536550|C16.131.077/C536550|C16.131.621.207.231/C536550|C16.131.850.800/C536550|C17.800.329/C536550 C05.116|C05.116.099.370.231|C05.660.207.231|C07.650.800|C07.793.700|C16.131.077|C16.131.621.207.231|C16.131.850.800|C17.800.329 Congenital abnormality|Mouth disease|Musculoskeletal disease|Skin disease Trichodysplasia-Xeroderma MESH:C566032 MESH:D006201|MESH:D007057 C16.131.831.512/C566032|C16.614.492/C566032|C17.800.329/C566032|C17.800.428.333/C566032|C17.800.804.512/C566032 C16.131.831.512|C16.614.492|C17.800.329|C17.800.428.333|C17.800.804.512 Congenital abnormality|Infant-newborn disease|Skin disease Trichoepithelioma, Multiple Familial, 2 MESH:C567418 OMIM:612099 MESH:D012878 C04.588.805/C567418|C17.800.882/C567418 C04.588.805|C17.800.882 MFT2 Cancer|Skin disease Trichoepitheliomas, Multiple Desmoplastic MESH:C566034 MESH:D012878 C04.588.805/C566034|C17.800.882/C566034 C04.588.805|C17.800.882 Cancer|Skin disease Trichofolliculoma MESH:C536553 MESH:D005497|MESH:D012878|MESH:D018295 C04.182.300/C536553|C04.557.470.565/C536553|C04.588.805/C536553|C17.800.882/C536553 C04.182.300|C04.557.470.565|C04.588.805|C17.800.882 Congenital trichofolliculoma|Folliculo-sebaceous cystic hamartoma|Folliculosebaceous cystic hamartoma|Recurrent trichofolliculoma|Sebaceous trichofolliculoma Cancer|Skin disease Trichohepatoenteric Syndrome MESH:C565627 DO:DOID:0111414|OMIM:222470|OMIM:614602 MESH:D003968|MESH:D005317|MESH:D006201|MESH:D019066 C12.050.703.277.370/C565627|C16.300.390/C565627|C17.800.329/C565627|C23.550.291.812/C565627|C23.550.393.450/C565627|C23.888.821.214.500/C565627 C12.050.703.277.370|C16.300.390|C17.800.329|C23.550.291.812|C23.550.393.450|C23.888.821.214.500 Diarrhea, Fatal Infantile, with Trichorrhexis Nodosa|Diarrhea, Syndromic|THES1|THES2|THE SYNDROME|TRICHOHEPATOENTERIC SYNDROME 1|TRICHOHEPATOENTERIC SYNDROME 2 Fetal disease|Pathology (process)|Pregnancy complication|Signs and symptoms|Skin disease Trichomonas Infections MESH:D014245 DO:DOID:1947 Infections in birds and mammals produced by various species of Trichomonas. MESH:D011528 C01.610.752.890 C01.610.752 Infections, Trichomonas|Infection, Trichomonas|Trichomonas Infection|Trichomoniases|Trichomoniasis Parasitic disease Trichomonas Vaginitis MESH:D014247 DO:DOID:0050269 Inflammation of the vagina, marked by a purulent discharge. This disease is caused by the protozoan TRICHOMONAS VAGINALIS. MESH:D014245|MESH:D014627 C01.610.752.890.633|C12.050.351.500.894.906.633|C12.100.250.894.906.633 C01.610.752.890|C12.050.351.500.894.906|C12.100.250.894.906 Human Trichomoniases|Human Trichomoniasis|Trichomonas Vaginitides|Trichomoniases, Human|Trichomoniasis, Human|Vaginitides, Trichomonas|Vaginitis, Trichomonas Parasitic disease|Urogenital disease (female) Trichoodontoonychial Dysplasia MESH:C564760 MESH:D001848|MESH:D003744|MESH:D004476|MESH:D007039|MESH:D009260 C05.116.099/C564760|C07.650.800.295.625/C564760|C07.793.700.295.625/C564760|C16.131.077.350/C564760|C16.131.831.350/C564760|C16.131.850.800.295.625/C564760|C16.320.850.250/C564760|C17.800.329.937/C564760|C17.800.529/C564760|C17.800.804.350/C564760|C17.800.827.250/C564760 C05.116.099|C07.650.800.295.625|C07.793.700.295.625|C16.131.077.350|C16.131.831.350|C16.131.850.800.295.625|C16.320.850.250|C17.800.329.937|C17.800.529|C17.800.804.350|C17.800.827.250 Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Trichophyton infection MESH:C569516 MESH:D014005 C01.150.703.302.720/C569516|C01.800.200.720/C569516|C17.800.838.208.883/C569516 C01.150.703.302.720|C01.800.200.720|C17.800.838.208.883 Deep dermatophytosis|deep seated dermatophytosis|Granuloma trichophyticum|Majocchi's granuloma|trichophytic granuloma|Trichophyton infections|Trichophyton rubrum infection|Trichophyton rubrum infections Bacterial infection or mycosis|Skin disease Trichorhinophalangeal Syndrome, Type I MESH:C536820 DO:DOID:14743|OMIM:190350 MESH:D006201|MESH:D015826 C05.116.099.708.582/C536820|C17.800.329/C536820 C05.116.099.708.582|C17.800.329 Giedion syndrome|Trichorhinophalangeal dysplasia 1|Trichorhinophalangeal (TRP) syndrome 1|TRPS1|TRPS I Musculoskeletal disease|Skin disease Trichorhinophalangeal Syndrome, Type III MESH:C566033 OMIM:190351 MESH:D005532|MESH:D006201|MESH:D006228|MESH:D019066 C05.330.495/C566033|C05.390.408/C566033|C05.660.585.512.380/C566033|C05.660.585.988.425/C566033|C16.131.621.585.512.500/C566033|C16.131.621.585.988.500/C566033|C17.800.329/C566033|C23.550.291.812/C566033 C05.330.495|C05.390.408|C05.660.585.512.380|C05.660.585.988.425|C16.131.621.585.512.500|C16.131.621.585.988.500|C17.800.329|C23.550.291.812 Sugio-Kajii Syndrome|TRPS3 Congenital abnormality|Musculoskeletal disease|Pathology (process)|Skin disease Trichorrhexis nodosa syndrome MESH:C536556 MESH:D054463 C16.131.077.899/C536556|C16.131.831.874/C536556|C16.320.850.895/C536556|C17.800.804.874/C536556|C17.800.827.895/C536556 C16.131.077.899|C16.131.831.874|C16.320.850.895|C17.800.804.874|C17.800.827.895 Pollitt syndrome|Trichothiodystrophy-neurocutaneous syndrome|Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt Congenital abnormality|Genetic disease (inborn)|Skin disease Trichoscyphodysplasia MESH:C536557 MESH:D004476|MESH:D010009 C05.116.099.708/C536557|C16.131.077.350/C536557|C16.131.831.350/C536557|C16.320.728/C536557|C16.320.850.250/C536557|C17.800.804.350/C536557|C17.800.827.250/C536557 C05.116.099.708|C16.131.077.350|C16.131.831.350|C16.320.728|C16.320.850.250|C17.800.804.350|C17.800.827.250 Cupped metaphyses and cone-shaped epiphyses with alopecia|Metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia|Metaphyseal chondrodysplasia with ectodermal dysplasia Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Trichosporonosis MESH:D060586 DO:DOID:0050290 Fungal infections caused by TRICHOSPORON that may become systemic especially in an IMMUNOCOMPROMISED HOST. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs. MESH:D000542|MESH:D009181 C01.150.703.875|C08.381.483.125.841|C08.674.055.682|C20.543.480.680.075.682 C01.150.703|C08.381.483.125|C08.674.055|C20.543.480.680.075 Disseminated Trichosporonoses|Disseminated Trichosporonosis|Infection, Trichosporon|Invasive Trichosporonoses|Invasive Trichosporonosis|Japanese Summer Type Hypersensitivity Pneumonitis|Japanese Summer-Type Hypersensitivity Pneumonitis|Pneumonitides, Summer-Type Hypersensitivity|Pneumonitis, Summer-Type Hypersensitivity|Summer-Type Hypersensitivity Pneumonitides|Summer Type Hypersensitivity Pneumonitis|Summer-Type Hypersensitivity Pneumonitis|Trichosporon Infection|Trichosporon Infections|Trichosporonoses|Trichosporonosis, Disseminated|Trichosporonosis, Invasive Bacterial infection or mycosis|Immune system disease|Respiratory tract disease Trichostasis spinulosa MESH:C536558 MESH:D006201|MESH:D007642|MESH:D011537 C17.800.329/C536558|C17.800.428/C536558|C17.800.685/C536558|C23.888.885.625/C536558 C17.800.329|C17.800.428|C17.800.685|C23.888.885.625 Signs and symptoms|Skin disease Trichostrongyloidiasis MESH:D014252 DO:DOID:1255 Infection by roundworms of the superfamily TRICHOSTRONGYLOIDEA, including the genera TRICHOSTRONGYLUS; OSTERTAGIA; Cooperia, HAEMONCHUS; Nematodirus, Hyostrongylus, and DICTYOCAULUS. MESH:D017206 C01.610.335.508.700.775.825 C01.610.335.508.700.775 Trichostrongyloidiases Parasitic disease Trichostrongylosis MESH:D014253 DO:DOID:1254 Infestation with nematode worms of the genus TRICHOSTRONGYLUS. Man and animals become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin. MESH:D014252 C01.610.335.508.700.775.825.842 C01.610.335.508.700.775.825 Trichostrongyloses Parasitic disease TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE OMIM:601675 DO:DOID:0111873 MESH:D004476|MESH:D006201|MESH:D008607|MESH:D009260|MESH:D010787|MESH:D054463 C10.597.606.360/601675|C16.131.077.350/601675|C16.131.077.899/601675|C16.131.831.350/601675|C16.131.831.874/601675|C16.320.850.250/601675|C16.320.850.895/601675|C17.800.329/601675|C17.800.529/601675|C17.800.600/601675|C17.800.804.350/601675|C17.800.804.874/601675|C17.800.827.250/601675|C17.800.827.895/601675|C23.888.592.604.646/601675|F03.625.539/601675 C10.597.606.360|C16.131.077.350|C16.131.077.899|C16.131.831.350|C16.131.831.874|C16.320.850.250|C16.320.850.895|C17.800.329|C17.800.529|C17.800.600|C17.800.804.350|C17.800.804.874|C17.800.827.250|C17.800.827.895|C23.888.592.604.646|F03.625.539 ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION|ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY|PIBIDS SYNDROME|TAY SYNDROME|TRICHOTHIODYSTROPHY, PHOTOSENSITIVE|TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS|TTD1|TTDP Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE OMIM:616390 DO:DOID:0111869 MESH:D010787|MESH:D054463 C16.131.077.899/616390|C16.131.831.874/616390|C16.320.850.895/616390|C17.800.600/616390|C17.800.804.874/616390|C17.800.827.895/616390 C16.131.077.899|C16.131.831.874|C16.320.850.895|C17.800.600|C17.800.804.874|C17.800.827.895 TTD2 Congenital abnormality|Genetic disease (inborn)|Skin disease TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE OMIM:616395 DO:DOID:0111871 MESH:D010787|MESH:D054463 C16.131.077.899/616395|C16.131.831.874/616395|C16.320.850.895/616395|C17.800.600/616395|C17.800.804.874/616395|C17.800.827.895/616395 C16.131.077.899|C16.131.831.874|C16.320.850.895|C17.800.600|C17.800.804.874|C17.800.827.895 TRICHOTHIODYSTROPHY, COMPLEMENTATION GROUP A|TTD3|TTDA Congenital abnormality|Genetic disease (inborn)|Skin disease TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE OMIM:300953 DO:DOID:0111868 MESH:D054463 C16.131.077.899/300953|C16.131.831.874/300953|C16.320.850.895/300953|C17.800.804.874/300953|C17.800.827.895/300953 C16.131.077.899|C16.131.831.874|C16.320.850.895|C17.800.804.874|C17.800.827.895 TTD5 Congenital abnormality|Genetic disease (inborn)|Skin disease TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE OMIM:616943 DO:DOID:0111872 MESH:D054463 C16.131.077.899/616943|C16.131.831.874/616943|C16.320.850.895/616943|C17.800.804.874/616943|C17.800.827.895/616943 C16.131.077.899|C16.131.831.874|C16.320.850.895|C17.800.804.874|C17.800.827.895 TTD6 Congenital abnormality|Genetic disease (inborn)|Skin disease Trichothiodystrophy Syndromes MESH:D054463 DO:DOID:0111866|DO:DOID:0111868|DO:DOID:2960|OMIM:234050 Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene. MESH:D000015|MESH:D012868|MESH:D012873 C16.131.077.899|C16.131.831.874|C16.320.850.895|C17.800.804.874|C17.800.827.895 C16.131.077|C16.131.831|C16.320.850|C17.800.804|C17.800.827 ABHS|Amish Brittle Hair Brain Syndrome|Amish Brittle Hair Syndrome|BIDS Syndrome|BIDS Syndromes|Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome|Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome|Hair Brain Syndrome|Hair-Brain Syndrome|Hair-Brain Syndromes|IBIDS Syndrome|IBIDS Syndromes|Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation|Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature|Photosensitive Trichothiodystrophies|Photosensitive Trichothiodystrophy|PIBIDS Syndrome|PIBIDS Syndromes|POLLITT SYNDROME|Tay Syndrome|Trichothiodystrophies|Trichothiodystrophies, Nonphotosensitive 1|Trichothiodystrophies, Photosensitive|Trichothiodystrophy|TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE|TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME|Trichothiodystrophy, Nonphotosensitive 1|Trichothiodystrophy, Photosensitive|Trichothiodystrophy Syndrome|Trichothiodystrophy with Congenital Ichtyosis|TTD4|TTDN1 Congenital abnormality|Genetic disease (inborn)|Skin disease Trichothiodystrophy, Type 1 MESH:C564734 MESH:D014983 C04.834.867/C564734|C16.131.831.936/C564734|C16.320.850.970/C564734|C17.800.600.925/C564734|C17.800.621.936/C564734|C17.800.804.936/C564734|C17.800.827.970/C564734|C18.452.284.975/C564734 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Trichothiodystrophy with Sun Sensitivity MESH:C564733 MESH:D054463 C16.131.077.899/C564733|C16.131.831.874/C564733|C16.320.850.895/C564733|C17.800.804.874/C564733|C17.800.827.895/C564733 C16.131.077.899|C16.131.831.874|C16.320.850.895|C17.800.804.874|C17.800.827.895 Congenital abnormality|Genetic disease (inborn)|Skin disease Trichotillomania MESH:D014256 DO:DOID:0050587|OMIM:613229 Compulsion to pull out one's hair. MESH:D007174 F03.250.800 F03.250 Trichotillomanias|TTM Mental disorder Trichuriasis MESH:D014257 DO:DOID:1252 Infection with nematodes of the genus TRICHURIS, formerly called Trichocephalus. MESH:D017189 C01.610.335.508.100.275.895 C01.610.335.508.100.275 Infections, Trichuris|Infections, Trichuris trichiura|Infections, Whipworm|Infection, Trichuris|Infection, Trichuris trichiura|Infection, Whipworm|Trichocephaliases|Trichocephaliasis|Trichuriases|Trichuris Infection|Trichuris Infections|Trichuris trichiura Infection|Trichuris trichiura Infections|Whipworm Infection|Whipworm Infections Parasitic disease Tricuspid Atresia MESH:D018785 DO:DOID:0080169|OMIM:605067 Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional. MESH:D006330|MESH:D006349 C14.240.400.920|C14.280.400.920|C14.280.484.845|C16.131.240.400.920 C14.240.400|C14.280.400|C14.280.484|C16.131.240.400 Absent Right Atrioventricular Connection|Atresias, Tricuspid|Atresias, Tricuspid Valve|Atresia, Tricuspid|Atresia, Tricuspid Valve|Tricuspid Atresias|Tricuspid Valve Atresia|Tricuspid Valve Atresias|Valve Atresias, Tricuspid|Valve Atresia, Tricuspid Cardiovascular disease|Congenital abnormality Tricuspid Valve Insufficiency MESH:D014262 DO:DOID:4080 Backflow of blood from the RIGHT VENTRICLE into the RIGHT ATRIUM due to imperfect closure of the TRICUSPID VALVE. MESH:D006349 C14.280.484.856 C14.280.484 Incompetence, Tricuspid|Incompetence, Tricuspid Valve|Insufficiency, Tricuspid Valve|Regurgitation, Tricuspid|Regurgitation, Tricuspid Valve|Tricuspid Incompetence|Tricuspid Regurgitation|Tricuspid Valve Incompetence|Tricuspid Valve Regurgitation|Valve Incompetence, Tricuspid|Valve Insufficiency, Tricuspid|Valve Regurgitation, Tricuspid Cardiovascular disease Tricuspid Valve Prolapse MESH:D014263 DO:DOID:5644 Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus. MESH:D016127 C14.280.484.400.875 C14.280.484.400 Prolapses, Tricuspid Valve|Prolapse, Tricuspid Valve|Tricuspid Valve Prolapses|Valve Prolapses, Tricuspid|Valve Prolapse, Tricuspid Cardiovascular disease Tricuspid Valve Stenosis MESH:D014264 DO:DOID:4078 The pathologic narrowing of the orifice of the TRICUSPID VALVE. This hinders the emptying of RIGHT ATRIUM leading to elevated right atrial pressure and systemic venous congestion. Tricuspid valve stenosis is almost always due to RHEUMATIC FEVER. MESH:D006349 C14.280.484.911 C14.280.484 Stenoses, Tricuspid Valve|Stenosis, Tricuspid Valve|Tricuspid Valve Stenoses|Valve Stenoses, Tricuspid|Valve Stenosis, Tricuspid Cardiovascular disease Trifunctional Protein Deficiency With Myopathy And Neuropathy MESH:C566945 DO:DOID:0111277|OMIM:609015 MESH:D008052|MESH:D009202|MESH:D009422|MESH:D012206|MESH:D017240 C05.651.460/C566945|C05.651.807/C566945|C10.668.491.500/C566945|C10/C566945|C14.280.238/C566945|C16.320.565.398/C566945|C18.452.584.563/C566945|C18.452.648.398/C566945|C18.452.660.560/C566945 C05.651.460|C05.651.807|C10|C10.668.491.500|C14.280.238|C16.320.565.398|C18.452.584.563|C18.452.648.398|C18.452.660.560 3-Hydroxyacyl-CoA Dehydrogenase, Long Chain, Deficiency|LCHAD Deficiency|Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency|Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency|Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency|Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency|Mitochondrial Trifunctional Protein Deficiency|MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1|MTPD|MTPD1|TFP Deficiency|Trifunctional Protein Deficiency|TRIFUNCTIONAL PROTEIN DEFICIENCY MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY, INCLUDED|Trifunctional Protein Deficiency, Type 1|Trifunctional Protein Deficiency, Type 2 Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Trigeminal Autonomic Cephalalgias MESH:D051303 Primary headache disorders that show symptoms caused by the activation of the AUTONOMIC NERVOUS SYSTEM of the TRIGEMINAL NERVE. These autonomic features include redness and tearing of the EYE, nasal congestion or discharge, facial SWEATING and other symptoms. Most subgroups show unilateral cranial PAIN. MESH:D051270 C10.228.140.546.399.937 C10.228.140.546.399 Cephalalgias, Trigeminal Autonomic|Cephalalgia, Trigeminal Autonomic|Trigeminal Autonomic Cephalalgia Nervous system disease Trigeminal Nerve Diseases MESH:D020433 Diseases of the trigeminal nerve or its nuclei, which are located in the pons and medulla. The nerve is composed of three divisions: ophthalmic, maxillary, and mandibular, which provide sensory innervation to structures of the face, sinuses, and portions of the cranial vault. The mandibular nerve also innervates muscles of mastication. Clinical features include loss of facial and intra-oral sensation and weakness of jaw closure. Common conditions affecting the nerve include brain stem ischemia, INFRATENTORIAL NEOPLASMS, and TRIGEMINAL NEURALGIA. MESH:D005156 C07.465.299.625.500|C10.292.319.625.700 C07.465.299.625|C10.292.319.625 Cranial Nerve V Diseases|Fifth Cranial Nerve Diseases|Idiopathic Trigeminal Neuropathies|Idiopathic Trigeminal Neuropathy|Neuropathies, Idiopathic Trigeminal|Neuropathies, Trigeminal|Neuropathy, Idiopathic Trigeminal|Neuropathy, Trigeminal|Raeder Paratrigeminal Syndrome|Syndrome, Raeder Paratrigeminal|Trigeminal Nerve Disease|Trigeminal Nerve Disorder|Trigeminal Nerve Disorders|Trigeminal Neuropathies|Trigeminal Neuropathies, Idiopathic|Trigeminal Neuropathy|Trigeminal Neuropathy, Idiopathic Mouth disease|Nervous system disease Trigeminal Nerve Injuries MESH:D061221 Traumatic injuries to the TRIGEMINAL NERVE. It may result in extreme pain, abnormal sensation in the areas the nerve innervates on face, jaw, gums and tongue and can cause difficulties with speech and chewing. It is sometimes associated with various dental treatments. MESH:D020209|MESH:D020433 C07.465.299.625.500.349|C10.292.200.875|C10.292.319.625.700.349|C10.900.300.218.775|C26.915.300.400.825 C07.465.299.625.500|C10.292.200|C10.292.319.625.700|C10.900.300.218|C26.915.300.400 Avulsions, Trigeminal Nerve|Avulsion, Trigeminal Nerve|Contusions, Trigeminal Nerve|Contusion, Trigeminal Nerve|Cranial Nerve V Injury|Fifth Cranial Nerve Injuries|Fifth Cranial Nerve Injury|Fifth-Nerve Palsies, Traumatic|Fifth Nerve Palsy, Traumatic|Fifth-Nerve Palsy, Traumatic|Fifth Nerve Trauma|Fifth-Nerve Trauma|Fifth-Nerve Traumas|Injuries, Trigeminal Nerve|Injury, Cranial Nerve V|Injury, Fifth Cranial Nerve|Injury, Trigeminal Nerve|Nerve Avulsions, Trigeminal|Nerve Avulsion, Trigeminal|Nerve Contusions, Trigeminal|Nerve Contusion, Trigeminal|Nerve Injuries, Trigeminal|Nerve Injury, Trigeminal|Nerve Transections, Trigeminal|Nerve Transection, Trigeminal|Nerve Traumas, Trigeminal|Nerve Trauma, Trigeminal|Neuropathies, Traumatic Trigeminal|Neuropathy, Traumatic Trigeminal|Palsies, Traumatic Fifth-Nerve|Palsy, Traumatic Fifth-Nerve|Transections, Trigeminal Nerve|Transection, Trigeminal Nerve|Trauma, Fifth-Nerve|Traumas, Fifth-Nerve|Traumas, Trigeminal Nerve|Traumatic Fifth-Nerve Palsies|Traumatic Fifth Nerve Palsy|Traumatic Fifth-Nerve Palsy|Traumatic Trigeminal Neuropathies|Traumatic Trigeminal Neuropathy|Trauma, Trigeminal Nerve|Trigeminal Nerve Avulsion|Trigeminal Nerve Avulsions|Trigeminal Nerve Contusion|Trigeminal Nerve Contusions|Trigeminal Nerve Injury|Trigeminal Nerve Transection|Trigeminal Nerve Transections|Trigeminal Nerve Trauma|Trigeminal Nerve Traumas|Trigeminal Neuropathies, Traumatic|Trigeminal Neuropathy, Traumatic Mouth disease|Nervous system disease|Wounds and injuries Trigeminal Neuralgia MESH:D014277 DO:DOID:12098 A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187) MESH:D020433 C07.465.299.625.500.700|C10.292.319.625.700.700 C07.465.299.625.500|C10.292.319.625.700 Disease, Fothergill|Epileptiform Neuralgia|Epileptiform Neuralgias|Fothergill Disease|Idiopathic Trigeminal Neuralgia|Idiopathic Trigeminal Neuralgias|Neuralgia, Epileptiform|Neuralgia, Idiopathic Trigeminal|Neuralgia, Secondary Trigeminal|Neuralgia, Trifacial|Neuralgia, Trigeminal|Secondary Trigeminal Neuralgia|Secondary Trigeminal Neuralgias|Tic Doloureux|Tic Douloureux|Trifacial Neuralgia|Trifacial Neuralgias|Trigeminal Neuralgia, Idiopathic|Trigeminal Neuralgias|Trigeminal Neuralgia, Secondary Mouth disease|Nervous system disease Trigger Finger Disorder MESH:D052582 A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58). MESH:D053682 C05.651.869.816.800 C05.651.869.816 Digits, Trigger|Digit, Trigger|Entrapment, Flexor Tendon|Entrapments, Flexor Tendon|Finger, Snapping|Fingers, Snapping|Flexor Tendon Entrapment|Flexor Tendon Entrapments|Snapping Finger|Snapping Fingers|Tendon Entrapment, Flexor|Tendon Entrapments, Flexor|Thumbs, Trigger|Thumb, Trigger|Trigger Digit|Trigger Digits|Trigger Thumb|Trigger Thumbs Musculoskeletal disease Triglyceride Storage Disease, Type I MESH:C566031 MESH:D008052 C16.320.565.398/C566031|C18.452.584.563/C566031|C18.452.648.398/C566031 C16.320.565.398|C18.452.584.563|C18.452.648.398 Genetic disease (inborn)|Metabolic disease Triglyceride Storage Disease, Type II MESH:C566030 MESH:D008052 C16.320.565.398/C566030|C18.452.584.563/C566030|C18.452.648.398/C566030 C16.320.565.398|C18.452.584.563|C18.452.648.398 Genetic disease (inborn)|Metabolic disease Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet MESH:C564759 MESH:D003398|MESH:D005532|MESH:D006228|MESH:D008844|MESH:D011596 C05.116.099.370.894.232/C564759|C05.330.495/C564759|C05.390.408/C564759|C05.500.460.457/C564759|C05.660.207.240/C564759|C05.660.207.540.460.457/C564759|C05.660.585.512.380/C564759|C05.660.585.988.425/C564759|C05.660.906.364/C564759|C07.320.440.457/C564759|C07.650.500.460.457/C564759|C10.597.606.881/C564759|C16.131.621.207.240/C564759|C16.131.621.207.540.460.457/C564759|C16.131.621.585.512.500/C564759|C16.131.621.585.988.500/C564759|C16.131.621.906.364/C564759|C16.131.850.500.460.457/C564759|C23.888.592.604.882/C564759 C05.116.099.370.894.232|C05.330.495|C05.390.408|C05.500.460.457|C05.660.207.240|C05.660.207.540.460.457|C05.660.585.512.380|C05.660.585.988.425|C05.660.906.364|C07.320.440.457|C07.650.500.460.457|C10.597.606.881|C16.131.621.207.240|C16.131.621.207.540.460.457|C16.131.621.585.512.500|C16.131.621.585.988.500|C16.131.621.906.364|C16.131.850.500.460.457|C23.888.592.604.882 Congenital abnormality|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Trigonocephaly, Nonsyndromic MESH:C562951 MESH:D003398 C05.116.099.370.894.232/C562951|C05.660.207.240/C562951|C05.660.906.364/C562951|C16.131.621.207.240/C562951|C16.131.621.906.364/C562951 C05.116.099.370.894.232|C05.660.207.240|C05.660.906.364|C16.131.621.207.240|C16.131.621.906.364 Craniosynostosis, Metopic Congenital abnormality|Musculoskeletal disease Trilogy of Fallot MESH:D014286 A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY. MESH:D006330 C14.240.400.960|C14.280.400.960|C16.131.240.400.960 C14.240.400|C14.280.400|C16.131.240.400 Fallot's Trilogy|Fallots Trilogy|Fallot Trilogy|Trilogy, Fallot's Cardiovascular disease|Congenital abnormality Trimethylaminuria MESH:C536561 DO:DOID:0080361|OMIM:602079 MESH:D008661 C16.320.565/C536561|C18.452.648/C536561 C16.320.565|C18.452.648 Fish malodor syndrome|Fish odor syndrome|Fish-Odor Syndrome|Stale Fish Syndrome|TMAU|TMAuria Genetic disease (inborn)|Metabolic disease Triosephosphate Isomerase Deficiency MESH:C566029 DO:DOID:0050884|OMIM:615512 MESH:D000746|MESH:D002239 C15.378.071.141.150.100/C566029|C16.320.070.100/C566029|C16.320.565.202/C566029|C18.452.648.202/C566029 C15.378.071.141.150.100|C16.320.070.100|C16.320.565.202|C18.452.648.202 TPID Blood disease|Genetic disease (inborn)|Metabolic disease Triphalangeal Thumb MESH:C573898 MESH:D006228 C05.390.408/C573898|C05.660.585.988.425/C573898|C16.131.621.585.988.500/C573898 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Congenital abnormality|Musculoskeletal disease Triphalangeal thumb non opposable MESH:C536562 MESH:D006228 C05.390.408/C536562|C05.660.585.988.425/C536562|C16.131.621.585.988.500/C536562 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Non-opposable triphalangeal thumb|Triphalangeal Thumb, Nonopposable Congenital abnormality|Musculoskeletal disease Triphalangeal thumbs brachyectrodactyly MESH:C536564 MESH:D000015 C16.131.077/C536564 C16.131.077 Triphalangeal thumb and brachy-ectrodactyly syndrome|Triphalangeal thumb and brachyectrodactyly syndrome|Triphalangeal Thumbs with Brachyectrodactyly Congenital abnormality Triphalangeal Thumb with Double Phalanges MESH:C566028 MESH:D006228 C05.390.408/C566028|C05.660.585.988.425/C566028|C16.131.621.585.988.500/C566028 C05.390.408|C05.660.585.988.425|C16.131.621.585.988.500 Congenital abnormality|Musculoskeletal disease Triple Negative Breast Neoplasms MESH:D064726 Breast neoplasms that do not express ESTROGEN RECEPTORS; PROGESTERONE RECEPTORS; and do not overexpress the NEU RECEPTOR/HER-2 PROTO-ONCOGENE PROTEIN. MESH:D001943 C04.588.180.788|C17.800.090.500.788 C04.588.180|C17.800.090.500 Breast Cancers, Triple-Negative|Breast Cancer, Triple-Negative|Breast Neoplasms, Triple-Negative|Breast Neoplasm, Triple-Negative|ER Negative PR Negative HER2 Negative Breast Cancer|ER-Negative PR-Negative HER2-Negative Breast Cancer|ER Negative PR Negative HER2 Negative Breast Neoplasms|ER-Negative PR-Negative HER2-Negative Breast Neoplasms|Triple Negative Breast Cancer|Triple-Negative Breast Cancer|Triple-Negative Breast Cancers|Triple Negative Breast Neoplasm|Triple-Negative Breast Neoplasm|Triple-Negative Breast Neoplasms Cancer|Skin disease Triple X syndrome MESH:C535318 MESH:D012729|MESH:D014314|MESH:D058533 C12.050.351.875.253.795/C535318|C12.200.706.316.795/C535318|C12.800.316.795/C535318|C16.131.260.830.835/C535318|C16.131.939.316.795/C535318|C16.320.180.830.835/C535318|C19.391.119.795/C535318|C23.550.210.050.750/C535318|C23.550.210.182.500/C535318|C23.550.210.815/C535318 C12.050.351.875.253.795|C12.200.706.316.795|C12.800.316.795|C16.131.260.830.835|C16.131.939.316.795|C16.320.180.830.835|C19.391.119.795|C23.550.210.050.750|C23.550.210.182.500|C23.550.210.815 47,Xxx|47,XXX syndrome|Super female|Triple-X chromosome syndrome|Triple-X female|Triplo X syndrome|Trisomy X|XXX syndrome Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Triploidy MESH:D057885 Polyploidy with three sets of chromosomes. Triploidy in humans are 69XXX, 69XXY, and 69XYY. It is associated with HOLOPROSENCEPHALY; ABNORMALITIES, MULTIPLE; PARTIAL HYDATIDIFORM MOLE; and MISCARRAGES. MESH:D011123 C23.550.210.702.500 C23.550.210.702 Triploid|Triploidies|Triploids Pathology (process) Trismus MESH:D014313 Spasmodic contraction of the masseter muscle resulting in forceful jaw closure. This may be seen with a variety of diseases, including TETANUS, as a complication of radiation therapy, trauma, or in association with neoplastic conditions. MESH:D013035 C10.597.613.750.700|C23.888.592.608.750.700 C10.597.613.750|C23.888.592.608.750 Lockjaw|Lock Jaw|Masseter Muscle Spasm|Masseter Muscle Spasms|Masseter Spasm|Masseter Spasms|Muscle Spasm, Masseter|Muscle Spasms, Masseter|Spasm, Masseter|Spasm, Masseter Muscle|Spasms, Masseter|Spasms, Masseter Muscle Nervous system disease|Signs and symptoms Trisomy MESH:D014314 The possession of a third chromosome of any one type in an otherwise diploid cell. MESH:D000782|MESH:D058674 C23.550.210.050.750|C23.550.210.182.500 C23.550.210.050|C23.550.210.182 Chromosomal Triplication|Chromosomal Triplications|Partial Trisomies|Partial Trisomy|Trisomies|Trisomies, Partial|Trisomy, Partial Pathology (process) Trisomy 13 Syndrome MESH:D000073839 DO:DOID:11665 A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS. MESH:D000015|MESH:D006330|MESH:D008607|MESH:D025063 C10.597.606.360.835|C14.240.400.970|C14.280.400.970|C16.131.077.919|C16.131.240.400.965|C16.131.260.923|C16.320.180.923 C10.597.606.360|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.260|C16.320.180 Bartholin Patau Syndrome|Bartholin-Patau Syndrome|Chromosome 13 Duplication|Chromosome 13 Duplications|Chromosome 13 Trisomy Syndrome|Complete Trisomy 13 Syndrome|Duplication, Chromosome 13|Mosaic Trisomy 13 Syndrome|Patau's Syndrome|Pataus Syndrome|Patau Syndrome|Trisomy 13|Trisomy 13 Syndromes Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Nervous system disease Trisomy 18-Like Syndrome MESH:C563382 MESH:D000015|MESH:D014314|MESH:D025063 C16.131.077/C563382|C16.131.260/C563382|C16.320.180/C563382|C23.550.210.050.750/C563382|C23.550.210.182.500/C563382 C16.131.077|C16.131.260|C16.320.180|C23.550.210.050.750|C23.550.210.182.500 Congenital abnormality|Genetic disease (inborn)|Pathology (process) Trisomy 18 Syndrome MESH:D000073842 DO:DOID:1085 A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 18. Clinical manifestations include INTRAUTERINE GROWTH RETARDATION; CLEFT PALATE; CONGENITAL HEART DEFECTS; MICROCEPHALY; MICROGNATHIA and clenched fists with overlapping fingers. Most affected fetuses do not survive to birth. Those who survive through their first year often have severe INTELLECTUAL DISABILITY. MESH:D000015|MESH:D006330|MESH:D025063 C14.240.400.975|C14.280.400.975|C16.131.077.929|C16.131.240.400.968|C16.131.260.932|C16.320.180.932 C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.260|C16.320.180 Complete Trisomy 18 Syndrome|Edwards Syndrome|Mosaic Trisomy 18 Syndrome|Trisomy 18|Trisomy 18 Syndromes|Trisomy E Syndrome Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) Trisomy 20p MESH:C535371 MESH:D014314 C23.550.210.050.750/C535371|C23.550.210.182.500/C535371 C23.550.210.050.750|C23.550.210.182.500 Chromosome 20, duplication 20p|Duplication 20p Pathology (process) Trisomy 22 mosaicism syndrome MESH:C536796 MESH:D014314|MESH:D024182|MESH:D025063 C16.131.260/C536796|C16.320.180/C536796|C23.550.210.050.750/C536796|C23.550.210.182.500/C536796|C23.550.210.645.890/C536796 C16.131.260|C16.320.180|C23.550.210.050.750|C23.550.210.182.500|C23.550.210.645.890 Chromosome 22 trisomy mosaic|Trisomy 22 mosaic|Trisomy mosaic 22|Uniparental disomy of 22 Congenital abnormality|Genetic disease (inborn)|Pathology (process) TRITANOPIA OMIM:190900 DO:DOID:11661 MESH:D003117 C10.597.751.941.256/190900|C11.270.151.500/190900|C11.966.256/190900|C23.888.592.763.941.256/190900 C10.597.751.941.256|C11.270.151.500|C11.966.256|C23.888.592.763.941.256 BLUE COLORBLINDNESS|CBT|COLORBLINDNESS, TRITAN|COLORBLINDNESS, TRITANOPIC Eye disease|Nervous system disease|Signs and symptoms Trochlea of the Humerus, Aplasia of MESH:C566022 MESH:D001847 C05.116/C566022 C05.116 Musculoskeletal disease Trochlear Nerve Diseases MESH:D020432 DO:DOID:13864 Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS. MESH:D003389 C10.292.850 C10.292 Cranial Nerve IV Diseases|Fourth Cranial Nerve Diseases|Fourth Cranial Nerve Palsy|Fourth Nerve Palsies|Fourth Nerve Palsy|Myokymias, Superior Oblique|Myokymia, Superior Oblique|Neurogenic Superior Oblique Palsy|Neuropathies, Trochlear|Neuropathy, Trochlear|Palsies, Fourth Nerve|Palsies, Trochlear Nerve|Palsy, Fourth Nerve|Palsy, Trochlear Nerve|Superior Oblique Myokymia|Superior Oblique Myokymias|Superior Oblique Palsy, Neurogenic|Trochlear Nerve Disease|Trochlear Nerve Disorder|Trochlear Nerve Disorders|Trochlear Nerve Palsies|Trochlear Nerve Palsy|Trochlear Neuropathies|Trochlear Neuropathy Nervous system disease Trochlear Nerve Injuries MESH:D061247 Traumatic injuries to the TROCHLEAR NERVE. MESH:D020209 C10.292.200.906|C10.900.300.218.831|C26.915.300.400.868 C10.292.200|C10.900.300.218|C26.915.300.400 Avulsions, Trochlear Nerve|Avulsion, Trochlear Nerve|Contusions, Trochlear Nerve|Contusion, Trochlear Nerve|Cranial Nerve IV Injury|Fourth Cranial Nerve Injuries|Fourth Cranial Nerve Injury|Fourth-Nerve Palsies, Traumatic|Fourth Nerve Palsy, Traumatic|Fourth-Nerve Palsy, Traumatic|Fourth Nerve Trauma|Fourth-Nerve Trauma|Fourth-Nerve Traumas|Injuries, Trochlear Nerve|Injury, Cranial Nerve IV|Injury, Fourth Cranial Nerve|Injury, Trochlear Nerve|Nerve Avulsions, Trochlear|Nerve Avulsion, Trochlear|Nerve Contusions, Trochlear|Nerve Contusion, Trochlear|Nerve Injuries, Trochlear|Nerve Injury, Trochlear|Nerve Transections, Trochlear|Nerve Transection, Trochlear|Nerve Traumas, Trochlear|Nerve Trauma, Trochlear|Neuropathies, Traumatic Trochlear|Neuropathy, Traumatic Trochlear|Palsies, Traumatic Fourth-Nerve|Palsy, Traumatic Fourth-Nerve|Transections, Trochlear Nerve|Transection, Trochlear Nerve|Trauma, Fourth-Nerve|Traumas, Fourth-Nerve|Traumas, Trochlear Nerve|Traumatic Fourth-Nerve Palsies|Traumatic Fourth Nerve Palsy|Traumatic Fourth-Nerve Palsy|Traumatic Trochlear Neuropathies|Traumatic Trochlear Neuropathy|Trauma, Trochlear Nerve|Trochlear Nerve Avulsion|Trochlear Nerve Avulsions|Trochlear Nerve Contusion|Trochlear Nerve Contusions|Trochlear Nerve Injury|Trochlear Nerve Transection|Trochlear Nerve Transections|Trochlear Nerve Trauma|Trochlear Nerve Traumas|Trochlear Neuropathies, Traumatic|Trochlear Neuropathy, Traumatic Nervous system disease|Wounds and injuries Trombiculiasis MESH:D014323 DO:DOID:8399 Infestation with mites of the genus Trombicula, whose larvae carry the rickettsial agent of scrub typhus. MESH:D008924 C01.610.858.211.480.869 C01.610.858.211.480 Trombiculiases Parasitic disease Trophoblastic Neoplasms MESH:D014328 DO:DOID:4085 Trophoblastic growth, which may be gestational or nongestational in origin. Trophoblastic neoplasia resulting from pregnancy is often described as gestational trophoblastic disease to distinguish it from germ cell tumors which frequently show trophoblastic elements, and from the trophoblastic differentiation which sometimes occurs in a wide variety of epithelial cancers. Gestational trophoblastic growth has several forms, including HYDATIDIFORM MOLE and CHORIOCARCINOMA. (From Holland et al., Cancer Medicine, 3d ed, p1691) MESH:D009373|MESH:D011252 C04.557.465.955|C04.850.908|C12.050.703.720.949 C04.557.465|C04.850|C12.050.703.720 Cancers, Trophoblast|Cancers, Trophoblastic|Cancer, Trophoblast|Cancer, Trophoblastic|Neoplasms, Trophoblast|Neoplasms, Trophoblastic|Neoplasm, Trophoblast|Neoplasm, Trophoblastic|Trophoblast Cancer|Trophoblast Cancers|Trophoblastic Cancer|Trophoblastic Cancers|Trophoblastic Neoplasm|Trophoblastic Tumor|Trophoblastic Tumors|Trophoblast Neoplasm|Trophoblast Neoplasms|Trophoblast Tumor|Trophoblast Tumors|Tumors, Trophoblast|Tumors, Trophoblastic|Tumor, Trophoblast|Tumor, Trophoblastic Cancer|Pregnancy complication Trophoblastic Tumor, Placental Site MESH:D018245 DO:DOID:3596 An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected. MESH:D002822 C04.557.465.955.207.875|C04.557.470.200.025.455.875|C04.850.908.208.875|C12.050.703.720.949.208.875 C04.557.465.955.207|C04.557.470.200.025.455|C04.850.908.208|C12.050.703.720.949.208 Placental Site Trophoblastic Tumor|Placental-Site Trophoblastic Tumor|Placental-Site Trophoblastic Tumors|Placental Trophoblastic Tumor|Placental Trophoblastic Tumors|Trophoblastic Tumor, Placental|Trophoblastic Tumor, Placental-Site|Trophoblastic Tumors, Placental|Trophoblastic Tumors, Placental-Site|Tumor, Placental-Site Trophoblastic|Tumor, Placental Trophoblastic|Tumors, Placental-Site Trophoblastic|Tumors, Placental Trophoblastic Cancer|Pregnancy complication Tropical Calcific Pancreatitis MESH:C564276 OMIM:608189 MESH:D002114|MESH:D050500 C06.689.750.830/C564276|C18.452.174.130/C564276|C23.550.291.500.750/C564276 C06.689.750.830|C18.452.174.130|C23.550.291.500.750 TCP Digestive system disease|Metabolic disease|Pathology (process) Trueb Burg Bottani syndrome MESH:C536565 MESH:D004476|MESH:D013576|MESH:D056734 C05.116.099.370.894.819/C536565|C05.660.585.800/C536565|C05.660.906.819/C536565|C16.131.077.350/C536565|C16.131.077.592/C536565|C16.131.621.585.800/C536565|C16.131.621.906.819/C536565|C16.131.831.350/C536565|C16.320.850.250/C536565|C16.320.850.647/C536565|C17.800.329.984/C536565|C17.800.804.350/C536565|C17.800.827.250/C536565|C17.800.827.602/C536565 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.077.350|C16.131.077.592|C16.131.621.585.800|C16.131.621.906.819|C16.131.831.350|C16.320.850.250|C16.320.850.647|C17.800.329.984|C17.800.804.350|C17.800.827.250|C17.800.827.602 Ectodermal dysplasia with corkscrew hairs|Tricho-odonto-onychodysplasia with syndactyly Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease Truncus Arteriosus, Persistent MESH:D014339 A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect. MESH:D001028 C14.240.400.560.098.500|C14.280.400.560.098.500|C16.131.240.400.560.098.500 C14.240.400.560.098|C14.280.400.560.098|C16.131.240.400.560.098 Arteriosus Communis, Truncus|Persistent Truncus Arteriosus|Truncus Arteriosus Communi|Truncus Arteriosus Communis Cardiovascular disease|Congenital abnormality Trypanosomiasis MESH:D014352 DO:DOID:10113 Infection with protozoa of the genus TRYPANOSOMA. MESH:D056986 C01.610.752.300.900 C01.610.752.300 Trypanosomiases Parasitic disease Trypanosomiasis, African MESH:D014353 DO:DOID:10112 A disease endemic among people and animals in Central Africa. It is caused by various species of trypanosomes, particularly T. gambiense and T. rhodesiense. Its second host is the TSETSE FLY. Involvement of the central nervous system produces 'African sleeping sickness.' Nagana is a rapidly fatal trypanosomiasis of horses and other animals. MESH:D000079426|MESH:D014352 C01.610.752.300.900.719|C01.920.937 C01.610.752.300.900|C01.920 African Sleeping Sickness|African Sleeping Sicknesses|African Trypanosomiases|African Trypanosomiasis|Nagana|Sickness, African Sleeping|Sicknesses, African Sleeping|Sleeping Sickness, African|Sleeping Sicknesses, African|Trypanosomiases, African Parasitic disease Trypanosomiasis, Bovine MESH:D014354 Infection in cattle caused by various species of trypanosomes. MESH:D002418|MESH:D011529|MESH:D014352 C01.610.701.688.896|C01.610.752.300.900.802|C01.610.752.625.896|C22.196.888|C22.674.710.896 C01.610.701.688|C01.610.752.300.900|C01.610.752.625|C22.196|C22.674.710 Bovine Trypanosomiases|Bovine Trypanosomiasis|Trypanosomiases, Bovine Animal disease|Parasitic disease Trypophobia MESH:C000719219 MESH:D010698 F03.080.725/C000719219 F03.080.725 Fear of holes|Phobia, holes Mental disorder TRYPSINOGEN DEFICIENCY OMIM:614044 MESH:D008661 C16.320.565/614044|C18.452.648/614044 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Tryptophanuria With Dwarfism MESH:C562658 MESH:D000592|MESH:D001259|MESH:D004392|MESH:D008607 C05.116.099.343/C562658|C10.597.350.090/C562658|C10.597.606.360/C562658|C16.320.240/C562658|C16.320.565.100/C562658|C18.452.648.100/C562658|C19.297/C562658|C23.888.592.350.090/C562658|C23.888.592.604.646/C562658|F03.625.539/C562658 C05.116.099.343|C10.597.350.090|C10.597.606.360|C16.320.240|C16.320.565.100|C18.452.648.100|C19.297|C23.888.592.350.090|C23.888.592.604.646|F03.625.539 Endocrine system disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Tsc2 Angiomyolipomas, Renal, Modifier Of MESH:C567682 MESH:D014402|MESH:D018207|MESH:D052177 C04.445.810/C567682|C04.557.450.550.125/C567682|C04.557.450.692.249/C567682|C04.651.800/C567682|C04.700.700/C567682|C10.500.507.400.750/C567682|C10.562.850/C567682|C10.574.500.865/C567682|C12.050.351.968.419.403/C567682|C12.200.777.419.403/C567682|C12.950.419.403/C567682|C16.131.666.507.400.750/C567682|C16.320.400.880/C567682|C16.320.700.700/C567682 C04.445.810|C04.557.450.550.125|C04.557.450.692.249|C04.651.800|C04.700.700|C10.500.507.400.750|C10.562.850|C10.574.500.865|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.666.507.400.750|C16.320.400.880|C16.320.700.700 Cancer|Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Tsukahara Syndrome MESH:C566376 MESH:D000015|MESH:D006130|MESH:D008607|MESH:D008831|MESH:D012600|MESH:D013580 C05.116.099.370.894/C566376|C05.116.900.800.875/C566376|C05.660.207.620/C566376|C05.660.906/C566376|C10.500.507.400.500/C566376|C10.597.606.360/C566376|C16.131.077/C566376|C16.131.621.207.620/C566376|C16.131.621.906/C566376|C16.131.666.507.400.500/C566376|C23.550.393/C566376|C23.888.592.604.646/C566376|F03.625.539/C566376 C05.116.099.370.894|C05.116.900.800.875|C05.660.207.620|C05.660.906|C10.500.507.400.500|C10.597.606.360|C16.131.077|C16.131.621.207.620|C16.131.621.906|C16.131.666.507.400.500|C23.550.393|C23.888.592.604.646|F03.625.539 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Tuberculoma MESH:D014375 DO:DOID:399 A tumor-like mass resulting from the enlargement of a tuberculous lesion. MESH:D014376 C01.150.252.410.040.552.846.493 C01.150.252.410.040.552.846 Tuberculomas Bacterial infection or mycosis Tuberculoma, Intracranial MESH:D016862 DO:DOID:1638 A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with SEIZURES, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as OPPORTUNISTIC INFECTIONS, but also occur in immunocompetent individuals. MESH:D014375|MESH:D020306 C01.150.252.223.850.400|C01.150.252.410.040.552.846.493.400|C01.150.252.410.040.552.846.617.200.300|C01.207.180.850.400|C10.228.228.180.850.400 C01.150.252.223.850|C01.150.252.410.040.552.846.493|C01.150.252.410.040.552.846.617.200|C01.207.180.850|C10.228.228.180.850 Abscess, Tubercular, Intracranial|Intracranial Tuberculoma Bacterial infection or mycosis|Nervous system disease Tuberculosis MESH:D014376 Any of the infectious diseases of man and other animals caused by species of MYCOBACTERIUM TUBERCULOSIS. MESH:D009164 C01.150.252.410.040.552.846 C01.150.252.410.040.552 Infection, Mycobacterium tuberculosis|Infections, Mycobacterium tuberculosis|Koch Disease|Koch's Disease|Kochs Disease|Mycobacterium tuberculosis Infection|Mycobacterium tuberculosis Infections|Tuberculoses Bacterial infection or mycosis Tuberculosis, Avian MESH:D014379 A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells. MESH:D001715|MESH:D014376 C01.150.252.410.040.552.846.516|C22.131.921 C01.150.252.410.040.552.846|C22.131 Avian Tuberculoses|Avian Tuberculosis|Tuberculoses, Avian Animal disease|Bacterial infection or mycosis Tuberculosis, Bovine MESH:D014380 An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals. MESH:D002418|MESH:D014376 C01.150.252.410.040.552.846.538|C22.196.927 C01.150.252.410.040.552.846|C22.196 Bovine Tuberculoses|Bovine Tuberculosis|Tuberculoses, Bovine Animal disease|Bacterial infection or mycosis Tuberculosis, Cardiovascular MESH:D014381 DO:DOID:0060570 Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM. MESH:D000092225|MESH:D053821 C01.150.252.410.040.552.846.617.150|C01.190.750|C14.260.750 C01.150.252.410.040.552.846.617|C01.190|C14.260 Cardiovascular Tuberculoses|Cardiovascular Tuberculosis|Tuberculoses, Cardiovascular Bacterial infection or mycosis|Cardiovascular disease Tuberculosis, Central Nervous System MESH:D020306 Tuberculosis of the brain, spinal cord, or meninges (TUBERCULOSIS, MENINGEAL), most often caused by MYCOBACTERIUM TUBERCULOSIS and rarely by MYCOBACTERIUM BOVIS. The infection may be limited to the nervous system or coexist in other organs (e.g., TUBERCULOSIS, PULMONARY). The organism tends to seed the meninges causing a diffuse meningitis and leads to the formation of TUBERCULOMA, which may occur within the brain, spinal cord, or perimeningeal spaces. Tuberculous involvement of the vertebral column (TUBERCULOSIS, SPINAL) may result in nerve root or spinal cord compression. (From Adams et al., Principles of Neurology, 6th ed, pp717-20) MESH:D000092225|MESH:D020806 C01.150.252.223.850|C01.150.252.410.040.552.846.617.200|C01.207.180.850|C10.228.228.180.850 C01.150.252.223|C01.150.252.410.040.552.846.617|C01.207.180|C10.228.228.180 Central Nervous System Tuberculosis Bacterial infection or mycosis|Nervous system disease Tuberculosis, Cutaneous MESH:D014382 Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS. MESH:D000092225|MESH:D017192 C01.150.252.410.040.552.846.617.250|C01.150.252.819.820|C01.800.720.820|C17.800.838.765.820 C01.150.252.410.040.552.846.617|C01.150.252.819|C01.800.720|C17.800.838.765 Scrofuloderma|Skin Tuberculosis|Tuberculid Bacterial infection or mycosis|Skin disease Tuberculosis, Endocrine MESH:D014383 Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS. MESH:D000092225|MESH:D004700 C01.150.252.410.040.552.846.617.300|C19.927 C01.150.252.410.040.552.846.617|C19 Endocrine Tuberculoses|Endocrine Tuberculosis|Tuberculoses, Endocrine Bacterial infection or mycosis|Endocrine system disease Tuberculosis, Extrapulmonary MESH:D000092225 MYCOBACTERIUM infections of organs other than the lung. MESH:D014376 C01.150.252.410.040.552.846.617 C01.150.252.410.040.552.846 Extrapulmonary Tuberculoses|Extra-Pulmonary Tuberculoses|Extrapulmonary Tuberculosis|Extra Pulmonary Tuberculosis|Extra-Pulmonary Tuberculosis|Tuberculosis, Extra-Pulmonary Bacterial infection or mycosis Tuberculosis, Female Genital MESH:D014384 MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE). MESH:D005831|MESH:D014401 C01.150.252.410.040.552.846.617.900.596|C12.050.351.500.758|C12.050.351.750.940|C12.100.250.758|C12.600.940 C01.150.252.410.040.552.846.617.900|C12.050.351.500|C12.050.351.750|C12.100.250|C12.600 Female Genital Tuberculoses|Female Genital Tuberculosis|Genital Tuberculoses, Female|Genital Tuberculosis, Female|Tuberculoses, Female Genital Bacterial infection or mycosis|Urogenital disease (female) Tuberculosis, Gastrointestinal MESH:D014385 DO:DOID:404 TUBERCULOSIS that involves any region of the GASTROINTESTINAL TRACT, mostly in the distal ILEUM and the CECUM. In most cases, MYCOBACTERIUM TUBERCULOSIS is the pathogen. Clinical features include ABDOMINAL PAIN; FEVER; and palpable mass in the ileocecal area. MESH:D000092225|MESH:D005767 C01.150.252.410.040.552.846.617.350|C06.405.874 C01.150.252.410.040.552.846.617|C06.405 Gastrointestinal Tuberculosis Bacterial infection or mycosis|Digestive system disease Tuberculosis, Hepatic MESH:D014386 DO:DOID:407 Infection of the LIVER with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (TUBERCULOMA), and abnormalities in liver function tests. MESH:D000092225|MESH:D008107 C01.150.252.410.040.552.846.617.400|C06.552.933 C01.150.252.410.040.552.846.617|C06.552 Hepatic Tuberculoses|Hepatic Tuberculosis|Tuberculoses, Hepatic Bacterial infection or mycosis|Digestive system disease Tuberculosis, Laryngeal MESH:D014387 DO:DOID:1583 Tuberculosis involving the larynx, producing ulceration of the VOCAL CORDS and the LARYNGEAL MUCOSA. MESH:D000092225|MESH:D007818|MESH:D012141 C01.150.252.410.040.552.846.617.450|C01.748.860|C08.360.860|C08.730.860|C09.400.860 C01.150.252.410.040.552.846.617|C01.748|C08.360|C08.730|C09.400 Laryngeal Tuberculoses|Laryngeal Tuberculosis|Larynx Tuberculoses|Larynx Tuberculosis|Tuberculoses, Laryngeal|Tuberculosis of Larynx Bacterial infection or mycosis|Ear-nose-throat disease|Respiratory tract disease Tuberculosis, Lymph Node MESH:D014388 DO:DOID:4889 Infection of the lymph nodes by tuberculosis. Tuberculous infection of the cervical lymph nodes is scrofula. MESH:D000092225 C01.150.252.410.040.552.846.617.475 C01.150.252.410.040.552.846.617 Cervical Lymphadenitis, Mycobacterial|Cervical Tuberculous Lymphadenitis|Lymphadenitis, Cervical Tuberculous|Lymphadenitis, Mycobacterial Cervical|Lymphadenitis, Tuberculous|Lymph Node Tuberculoses|Lymph Node Tuberculosis|Mycobacterial Cervical Lymphadenitis|Scrofula|Scrofulas|Tuberculoses, Lymph Node|Tuberculous Lymphadenitis|Tuberculous Lymphadenitis, Cervical Bacterial infection or mycosis Tuberculosis, Male Genital MESH:D014389 MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE). MESH:D005832|MESH:D014401 C01.150.252.410.040.552.846.617.900.721|C12.100.500.909|C12.200.294.909|C12.200.672.721|C12.600.955 C01.150.252.410.040.552.846.617.900|C12.100.500|C12.200.294|C12.200.672|C12.600 Genital Tuberculoses, Male|Genital Tuberculosis, Male|Male Genital Tuberculoses|Male Genital Tuberculosis|Tuberculoses, Male Genital Bacterial infection or mycosis|Urogenital disease (male) Tuberculosis, Meningeal MESH:D014390 A form of bacterial meningitis caused by MYCOBACTERIUM TUBERCULOSIS or rarely MYCOBACTERIUM BOVIS. The organism seeds the meninges and forms microtuberculomas which subsequently rupture. The clinical course tends to be subacute, with progressions occurring over a period of several days or longer. Headache and meningeal irritation may be followed by SEIZURES, cranial neuropathies, focal neurologic deficits, somnolence, and eventually COMA. The illness may occur in immunocompetent individuals or as an OPPORTUNISTIC INFECTION in the ACQUIRED IMMUNODEFICIENCY SYNDROME and other immunodeficiency syndromes. (From Adams et al., Principles of Neurology, 6th ed, pp717-9) MESH:D016920|MESH:D020306 C01.150.252.223.500.937|C01.150.252.223.850.800|C01.150.252.410.040.552.846.617.200.600|C01.207.180.500.937|C01.207.180.850.800|C10.228.228.180.500.937|C10.228.228.180.850.800|C10.586.625.280.915 C01.150.252.223.500|C01.150.252.223.850|C01.150.252.410.040.552.846.617.200|C01.207.180.500|C01.207.180.850|C10.228.228.180.500|C10.228.228.180.850|C10.586.625.280 Hypertrophic Pachymeningitides, Tuberculous|Hypertrophic Pachymeningitis, Tuberculous|Meningeal Tuberculoses|Meningeal Tuberculosis|Meningitides, Tubercular|Meningitides, Tuberculosis|Meningitides, Tuberculous|Meningitis, Tubercular|Meningitis, Tuberculosis|Meningitis, Tuberculous|Pachymeningitides, Tuberculous Hypertrophic|Pachymeningitis, Tuberculous Hypertrophic|TB Meningitides|TB Meningitis|Tubercular Meningitides|Tubercular Meningitis|Tuberculoses, Meningeal|Tuberculosis Meningitides|Tuberculosis Meningitis|Tuberculous Hypertrophic Pachymeningitides|Tuberculous Hypertrophic Pachymeningitis|Tuberculous Meningitides|Tuberculous Meningitis Bacterial infection or mycosis|Nervous system disease Tuberculosis, Miliary MESH:D014391 DO:DOID:9861 An acute form of TUBERCULOSIS in which minute tubercles are formed in a number of organs of the body due to dissemination of the bacilli through the blood stream. MESH:D014376 C01.150.252.410.040.552.846.764 C01.150.252.410.040.552.846 Miliary Tuberculoses|Miliary Tuberculosis|Tuberculoses, Miliary Bacterial infection or mycosis Tuberculosis, Multidrug-Resistant MESH:D018088 DO:DOID:401 Tuberculosis resistant to chemotherapy with two or more ANTITUBERCULAR AGENTS, including at least ISONIAZID and RIFAMPICIN. The problem of resistance is particularly troublesome in tuberculous OPPORTUNISTIC INFECTIONS associated with HIV INFECTIONS. It requires the use of second line drugs which are more toxic than the first line regimens. TB with isolates that have developed further resistance to at least three of the six classes of second line drugs is defined as EXTENSIVELY DRUG-RESISTANT TUBERCULOSIS. MESH:D014376 C01.150.252.410.040.552.846.775 C01.150.252.410.040.552.846 Drug-Resistant Tuberculosis|MDR Tuberculosis|Multidrug-Resistant Tuberculosis|Multi-Drug Resistant Tuberculosis|Tuberculosis, Drug Resistant|Tuberculosis, Drug-Resistant|Tuberculosis, MDR|Tuberculosis, Multidrug Resistant|Tuberculosis, Multi Drug Resistant|Tuberculosis, Multi-Drug Resistant Bacterial infection or mycosis Tuberculosis, Ocular MESH:D014392 Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid. MESH:D015818 C01.150.252.289.800|C01.375.354.800|C11.294.354.800 C01.150.252.289|C01.375.354|C11.294.354 Ocular Tuberculoses|Ocular Tuberculosis|Tuberculoses, Ocular Bacterial infection or mycosis|Eye disease Tuberculosis, Oral MESH:D014393 DO:DOID:402 Tuberculosis of the mouth, tongue, and salivary glands. MESH:D000092225|MESH:D009059 C01.150.252.410.040.552.846.617.500|C07.465.943 C01.150.252.410.040.552.846.617|C07.465 Oral Tuberculoses|Oral Tuberculosis|Tuberculoses, Oral Bacterial infection or mycosis|Mouth disease Tuberculosis, Osteoarticular MESH:D014394 DO:DOID:1639 Tuberculosis of the bones or joints. MESH:D000092225|MESH:D001850 C01.150.252.410.040.552.846.617.525|C01.160.886|C05.116.165.886 C01.150.252.410.040.552.846.617|C01.160|C05.116.165 Bone Tuberculoses|Bone Tuberculosis|Joint Tuberculoses|Joint Tuberculosis|Osteoarticular Tuberculoses|Osteoarticular Tuberculosis|Tuberculoses, Bone|Tuberculoses, Joint|Tuberculoses, Osteoarticular|Tuberculosis, Bone|Tuberculosis, Joint Bacterial infection or mycosis|Musculoskeletal disease Tuberculosis, Pleural MESH:D014396 DO:DOID:106 Tuberculosis of the serous membrane lining the thoracic cavity and surrounding the lungs. MESH:D000092225|MESH:D010995|MESH:D012141 C01.150.252.410.040.552.846.617.550|C01.748.912|C08.528.928|C08.730.912 C01.150.252.410.040.552.846.617|C01.748|C08.528|C08.730 Pleural Tuberculoses|Pleural Tuberculosis|Pleurisies, Tuberculous|Pleurisy, Tuberculous|Tuberculoses, Pleural|Tuberculous Pleurisies|Tuberculous Pleurisy Bacterial infection or mycosis|Respiratory tract disease Tuberculosis, Pulmonary MESH:D014397 DO:DOID:2957 MYCOBACTERIUM infections of the lung. MESH:D008171|MESH:D012141|MESH:D014376 C01.150.252.410.040.552.846.899|C01.748.939|C08.381.922|C08.730.939 C01.150.252.410.040.552.846|C01.748|C08.381|C08.730 Consumption, Pulmonary|Consumptions, Pulmonary|Phthises, Pulmonary|Phthisis, Pulmonary|Pulmonary Consumption|Pulmonary Consumptions|Pulmonary Phthises|Pulmonary Phthisis|Pulmonary Tuberculoses|Pulmonary Tuberculosis|Tuberculoses, Pulmonary Bacterial infection or mycosis|Respiratory tract disease Tuberculosis, Renal MESH:D014398 DO:DOID:9733 Infection of the KIDNEY with species of MYCOBACTERIUM. MESH:D007674|MESH:D014401 C01.150.252.410.040.552.846.617.900.847|C12.050.351.750.970|C12.050.351.968.419.912|C12.200.672.847|C12.200.777.419.912|C12.600.970|C12.950.419.912 C01.150.252.410.040.552.846.617.900|C12.050.351.750|C12.050.351.968.419|C12.200.672|C12.200.777.419|C12.600|C12.950.419 Renal Tuberculoses|Renal Tuberculosis|Tuberculoses, Renal Bacterial infection or mycosis|Urogenital disease (female)|Urogenital disease (male) Tuberculosis, Spinal MESH:D014399 Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs. MESH:D013166|MESH:D014394 C01.150.252.410.040.552.846.617.525.722|C01.160.886.722|C05.116.165.886.722|C05.116.900.853.850 C01.150.252.410.040.552.846.617.525|C01.160.886|C05.116.165.886|C05.116.900.853 Disease, Pott|Disease, Pott's|Pott Disease|Pott's Disease|Potts Disease|Pott's Paraplegia|Spinal Tuberculoses|Spinal Tuberculosis|Tuberculoses, Spinal Bacterial infection or mycosis|Musculoskeletal disease Tuberculosis, Splenic MESH:D014400 DO:DOID:9305 Infection of the spleen with species of MYCOBACTERIUM. MESH:D000092225|MESH:D013158 C01.150.252.410.040.552.846.617.725|C15.604.744.909 C01.150.252.410.040.552.846.617|C15.604.744 Splenic Tuberculoses|Splenic Tuberculosis|Tuberculoses, Splenic Bacterial infection or mycosis|Lymphatic disease Tuberculosis, Urogenital MESH:D014401 DO:DOID:2149 A general term for MYCOBACTERIUM infections of any part of the UROGENITAL SYSTEM in either the male or the female. MESH:D000091642|MESH:D000092225|MESH:D052776|MESH:D052801 C01.150.252.410.040.552.846.617.900|C12.050.351.750|C12.200.672|C12.600 C01.150.252.410.040.552.846.617|C12|C12.050.351|C12.200 Tuberculoses, Urogenital|Urogenital Tuberculoses|Urogenital Tuberculosis Bacterial infection or mycosis|Urogenital disease (female)|Urogenital disease (male) Tuberous Sclerosis MESH:D014402 DO:DOID:13515 Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease. MESH:D006222|MESH:D009378|MESH:D009386|MESH:D020271|MESH:D020752|MESH:D065703 C04.445.810|C04.651.800|C04.700.700|C10.500.507.400.750|C10.562.850|C10.574.500.865|C16.131.666.507.400.750|C16.320.400.880|C16.320.700.700 C04.445|C04.651|C04.700|C10.500.507.400|C10.562|C10.574.500|C16.131.666.507.400|C16.320.400|C16.320.700 Adenoma Sebaceum|Bourneville Disease|Bourneville Phacomatosis|Bourneville Phakomatosis|Bourneville Pringle Disease|Bourneville-Pringle Disease|Bourneville Pringle's Disease|Bourneville-Pringle's Disease|Bourneville-Pringles Disease|Bourneville's Disease|Bourneville's Syndrome|Bourneville Syndrome|Cerebral Scleroses|Cerebral Sclerosis|Disease, Bourneville-Pringle|Disease, Bourneville-Pringle's|Epiloia|Phacomatosis, Bourneville|Phakomatosis, Bourneville|Sclerosis, Cerebral|Sclerosis Tuberosa|Sclerosis, Tuberose|Sclerosis, Tuberous|Syndrome, Bourneville|Syndrome, Bourneville's|Tuberose Sclerosis|Tuberous Sclerosis Complex Cancer|Congenital abnormality|Genetic disease (inborn)|Nervous system disease Tuberous Sclerosis 1 MESH:C565346 DO:DOID:0080324|OMIM:191100 MESH:D014402 C04.445.810/C565346|C04.651.800/C565346|C04.700.700/C565346|C10.500.507.400.750/C565346|C10.562.850/C565346|C10.574.500.865/C565346|C16.131.666.507.400.750/C565346|C16.320.400.880/C565346|C16.320.700.700/C565346 C04.445.810|C04.651.800|C04.700.700|C10.500.507.400.750|C10.562.850|C10.574.500.865|C16.131.666.507.400.750|C16.320.400.880|C16.320.700.700 TS|TSC|TSC1|TUBEROSE SCLEROSIS|TUBEROUS SCLEROSIS COMPLEX Cancer|Congenital abnormality|Genetic disease (inborn)|Nervous system disease Tuberous Sclerosis 2 MESH:C566021 DO:DOID:0080325|OMIM:613254 MESH:D014402 C04.445.810/C566021|C04.651.800/C566021|C04.700.700/C566021|C10.500.507.400.750/C566021|C10.562.850/C566021|C10.574.500.865/C566021|C16.131.666.507.400.750/C566021|C16.320.400.880/C566021|C16.320.700.700/C566021 C04.445.810|C04.651.800|C04.700.700|C10.500.507.400.750|C10.562.850|C10.574.500.865|C16.131.666.507.400.750|C16.320.400.880|C16.320.700.700 TSC2|TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED Cancer|Congenital abnormality|Genetic disease (inborn)|Nervous system disease Tubular Sweat Gland Adenomas MESH:D000074009 DO:DOID:5439|DO:DOID:5445 Various tubular forms of benign tumors of the SWEAT GLAND with glandular differentiation. Common types include syringocystadenoma papilliferum of the head and neck, and hidradenoma papilliferum of the vulva area. Hidradenoma papilliferum may be derived from mammary-like glands of the vulva. MESH:D006607 C04.557.470.035.175.900|C04.557.470.550.175.900 C04.557.470.035.175|C04.557.470.550.175 Anogenital Papillary Hidradenoma|Anogenital Papillary Hidradenomas|Hidradenoma, Anogenital Papillary|Hidradenoma, Papillary|Hidradenoma Papilliferum|Hidradenoma Papilliferums|Papillary Hidradenoma|Papillary Hidradenoma, Anogenital|Papillary Hidradenomas|Papillary Syringocystadenoma|Papillary Syringocystadenomas|Papilliferum, Hidradenoma|Papilliferum, Syringocystadenoma|Syringocystadenoma, Papillary|Syringocystadenoma Papilliferum|Syringocystadenoma Papilliferums Cancer TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 OMIM:162000 DO:DOID:0060062 MESH:C548033|MESH:D033461 C12.050.351.968.419.403.875.500/C548033/162000|C12.200.777.419.403.875.500/C548033/162000|C12.950.419.403.875.500/C548033/162000|C16.131.077.717.500/C548033/162000|C16.320.184.625.500/C548033/162000|C23.550.449/162000 C12.050.351.968.419.403.875.500/C548033|C12.200.777.419.403.875.500/C548033|C12.950.419.403.875.500/C548033|C16.131.077.717.500/C548033|C16.320.184.625.500/C548033|C23.550.449 ADMCKD2|ADTKD1|FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY|FJHN|GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA|GOUTY NEPHROPATHY, FAMILIAL JUVENILE|HNFJ1|HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1|MCKD2|MEDULLARY CYSTIC KIDNEY DISEASE 2|MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT Congenital abnormality|Genetic disease (inborn)|Pathology (process)|Urogenital disease (female)|Urogenital disease (male) TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 OMIM:617056 MESH:D007674|MESH:D033461 C12.050.351.968.419/617056|C12.200.777.419/617056|C12.950.419/617056|C23.550.449/617056 C12.050.351.968.419|C12.200.777.419|C12.950.419|C23.550.449 ADTKD5|HNFJ4|HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Tubulointerstitial nephritis and uveitis MESH:C536922 MESH:D009395|MESH:D014605 C11.941.879/C536922|C12.050.351.968.419.570.643/C536922|C12.200.777.419.570.643/C536922|C12.950.419.570.643/C536922 C11.941.879|C12.050.351.968.419.570.643|C12.200.777.419.570.643|C12.950.419.570.643 Dobrin syndrome|TINU syndrome|Tubulointerstitial nephritis and uveitis syndrome|Tubulointerstitial Nephritis with Uveitis Eye disease|Urogenital disease (female)|Urogenital disease (male) Tucker syndrome MESH:C536923 MESH:D001763|MESH:D014826 C08.360.931/C536923|C09.400.931/C536923|C10.292.887.800/C536923|C10.597.622.943/C536923|C11.338.204/C536923|C23.888.592.636.943/C536923 C08.360.931|C09.400.931|C10.292.887.800|C10.597.622.943|C11.338.204|C23.888.592.636.943 Congenital bilateral recurrent nerve paralysis and ptosis|Ptosis vocal cord paralysis|Vocal Cord Paralysis And Ptosis Ear-nose-throat disease|Eye disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Tufted angioma MESH:C536924 MESH:D006391|MESH:D012878 C04.557.645.375/C536924|C04.588.805/C536924|C17.800.882/C536924 C04.557.645.375|C04.588.805|C17.800.882 Angioma, tufted Cancer|Skin disease Tuftsin Deficiency MESH:C562872 MESH:D000081207 C16.320.798/C562872|C20.673.795/C562872 C16.320.798|C20.673.795 Genetic disease (inborn)|Immune system disease Tukel syndrome MESH:C536925 DO:DOID:0081021|OMIM:609428 MESH:D005355|MESH:D006228|MESH:D015835 C05.390.408/C536925|C05.660.585.988.425/C536925|C10.228.758/C536925|C10.292.562/C536925|C11.590/C536925|C16.131.621.585.988.500/C536925|C23.550.355/C536925 C05.390.408|C05.660.585.988.425|C10.228.758|C10.292.562|C11.590|C16.131.621.585.988.500|C23.550.355 CFEOM4|CFEOM-U|Congenital extraocular muscle fibrosis with ulnar hand anomalies|FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 4|Fibrosis Of Extraocular Muscles, Congenital, with Ulnar Hand Anomalies Congenital abnormality|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (process) Tularemia MESH:D014406 A plague-like disease of rodents, transmissible to man. It is caused by FRANCISELLA TULARENSIS and is characterized by fever, chills, headache, backache, and weakness. MESH:D016905|MESH:D017282 C01.150.252.400.900|C01.920.930.943 C01.150.252.400|C01.920.930 Francisella tularensis Infection|Francisella tularensis Infections|Infection, Francisella tularensis|Tularemias Bacterial infection or mycosis Tumoral Calcinosis, Hyperphosphatemic, Familial MESH:C566870 OMIM:211900 MESH:D002114|MESH:D006958|MESH:D054559 C05.116.099.708.479/C566870|C05.116.540.400/C566870|C16.614.465/C566870|C18.452.174.130/C566870|C18.452.750.199/C566870 C05.116.099.708.479|C05.116.540.400|C16.614.465|C18.452.174.130|C18.452.750.199 Calcinosis, Tumoral, With Hyperphosphatemia|CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA|HFTC|HFTC1|HHS|HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME|HYPEROSTOSIS WITH HYPERPHOSPHATEMIA|Hyperphosphatemia Hyperostosis|Hyperphosphatemia Hyperostosis Syndrome|Hyperphosphatemia Tumoral Calcinosis|Hyperphosphatemic Familial Tumoral Calcinosis|Lipocalcinogranulomatosis|Morbus Teutschlaender|PHPTC|Primary Hyperphosphatemic Tumoral Calcinosis|Teutschlaender Disease, Familial|TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL|TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1|Tumoral Calcinosis, Primary Hyperphosphatemic Infant-newborn disease|Metabolic disease|Musculoskeletal disease Tumoral Calcinosis, Normophosphatemic, Familial MESH:C566473 OMIM:610455 MESH:D002114|MESH:D006958 C05.116.099.708.479/C566473|C05.116.540.400/C566473|C16.614.465/C566473|C18.452.174.130/C566473 C05.116.099.708.479|C05.116.540.400|C16.614.465|C18.452.174.130 Calcinosis, Tumoral, With Normophosphatemia|NFTC Infant-newborn disease|Metabolic disease|Musculoskeletal disease Tumor Lysis Syndrome MESH:D015275 A syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating lymphoproliferative disorders. It is characterized by combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia. MESH:D008232 C15.604.515.880|C20.683.515.950 C15.604.515|C20.683.515 Syndromes, Tumor Lysis|Syndromes, Tumour Lysis|Syndrome, Tumor Lysis|Syndrome, Tumour Lysis|Tumor Lysis Syndromes|Tumour Lysis Syndrome|Tumour Lysis Syndromes Immune system disease|Lymphatic disease TUMOR PREDISPOSITION SYNDROME 1 OMIM:614327 MESH:D009369|MESH:D020022 C04/614327|C23.550.291.687.500/614327 C04|C23.550.291.687.500 TPDS1 Cancer|Pathology (process) TUMOR PREDISPOSITION SYNDROME 3 OMIM:615848 MESH:C562393|MESH:D012878 C04.557.465.625.650.510/C562393/615848|C04.557.580.625.650.510/C562393/615848|C04.557.665.510/C562393/615848|C04.588.805/615848|C04.588.805/C562393/615848|C17.800.882/615848|C17.800.882/C562393/615848 C04.557.465.625.650.510/C562393|C04.557.580.625.650.510/C562393|C04.557.665.510/C562393|C04.588.805|C04.588.805/C562393|C17.800.882|C17.800.882/C562393 CMM10|GLIOMA SUSCEPTIBILITY 9|GLM9|LONG TELOMERE SYNDROME, POT1-RELATED|MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10|TPDS3 Cancer|Skin disease TUMOR SUPPRESSOR GENE ON CHROMOSOME 11 OMIM:603040 MESH:D002289 C04.588.894.797.520.109.220.249/603040|C08.381.540.140.500/603040|C08.785.520.100.220.500/603040 C04.588.894.797.520.109.220.249|C08.381.540.140.500|C08.785.520.100.220.500 NONSMALL CELL LUNG CANCER SUPPRESSOR|TSG11 Cancer|Respiratory tract disease Tumor Virus Infections MESH:D014412 Infections produced by oncogenic viruses. The infections caused by DNA viruses are less numerous but more diverse than those caused by the RNA oncogenic viruses. MESH:D014777 C01.925.928 C01.925 Fibroma, Shope|Infections, Tumor Virus|Infection, Tumor Virus|Papilloma, Shope|Shope Fibroma|Shope Papilloma|Tumor Virus Infection Viral disease Tune Deafness MESH:C566019 MESH:D001308 C09.218.807.186.094/C566019|C10.228.140.068.094/C566019|C10.597.606.762.200/C566019|C23.888.592.604.764.200/C566019|F03.615.250.100/C566019 C09.218.807.186.094|C10.228.140.068.094|C10.597.606.762.200|C23.888.592.604.764.200|F03.615.250.100 Amusia, Congenital|Dysmelodia Ear-nose-throat disease|Mental disorder|Nervous system disease|Signs and symptoms Tungiasis MESH:D058285 DO:DOID:0050266 An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS. MESH:D058267 C01.610.858.211.250.800 C01.610.858.211.250 Parasitic disease Tunglang Savage Bellman syndrome MESH:C536927 MESH:D006319|MESH:D011546|MESH:D012466 C07.465.815/C536927|C09.218.458.341.887/C536927|C10.597.751.418.341.887/C536927|C12.050.351.968.419.815.770/C536927|C12.200.777.419.815.770/C536927|C12.950.419.815.770/C536927|C16.320.831.770/C536927|C23.888.592.763.393.341.887/C536927 C07.465.815|C09.218.458.341.887|C10.597.751.418.341.887|C12.050.351.968.419.815.770|C12.200.777.419.815.770|C12.950.419.815.770|C16.320.831.770|C23.888.592.763.393.341.887 Hearing loss and familial salivary gland insensitivity to aldosterone|Hearing loss insensitivity to aldosterone Ear-nose-throat disease|Genetic disease (inborn)|Mouth disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Turcot syndrome MESH:C536928 OMIM:276300 MESH:D001932|MESH:D009386|MESH:D015179 C04.588.274.476.411.307/C536928|C04.588.614.250.195/C536928|C04.700/C536928|C06.301.371.411.307/C536928|C06.405.249.411.307/C536928|C06.405.469.158.356/C536928|C06.405.469.491.307/C536928|C06.405.469.860.180/C536928|C10.228.140.211/C536928|C10.551.240.250/C536928|C16.320.700/C536928 C04.588.274.476.411.307|C04.588.614.250.195|C04.700|C06.301.371.411.307|C06.405.249.411.307|C06.405.469.158.356|C06.405.469.491.307|C06.405.469.860.180|C10.228.140.211|C10.551.240.250|C16.320.700 Brain Tumor-Polyposis Syndrome 1|BTP1 SYNDROME|BTPS1|CHILDHOOD CANCER SYNDROME|CMMRDS|CNS tumors with Familial polyposis of the colon|CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME|Mismatch Repair Cancer Syndrome|mismatch repair cancer syndrome 1|mismatch repair cancer syndrome 2|mismatch repair cancer syndrome 3|mismatch repair cancer syndrome 4|Mismatch Repair Deficiency|MMRCS1|MMRCS2|MMRCS3|MMRCS4|MMR Deficiency|TURCOT SYNDROME Cancer|Digestive system disease|Genetic disease (inborn)|Nervous system disease Turner Syndrome MESH:D014424 DO:DOID:3491 A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. MESH:D006059|MESH:D006330|MESH:D058533 C12.050.351.875.253.309.872|C12.050.351.875.253.795.750|C12.200.706.316.309.872|C12.200.706.316.795.750|C12.800.316.309.872|C12.800.316.795.750|C14.240.400.980|C14.280.400.980|C16.131.240.400.970|C16.131.260.830.835.750|C16.131.939.316.309.872|C16.131.939.316.795.750|C16.320.180.830.835.750|C19.391.119.309.872|C19.391.119.795.750 C12.050.351.875.253.309|C12.050.351.875.253.795|C12.200.706.316.309|C12.200.706.316.795|C12.800.316.309|C12.800.316.795|C14.240.400|C14.280.400|C16.131.240.400|C16.131.260.830.835|C16.131.939.316.309|C16.131.939.316.795|C16.320.180.830.835|C19.391.119.309|C19.391.119.795 Bonnevie Ullrich Syndrome|Bonnevie-Ullrich Syndrome|Gonadal Dysgenesis, 45,X|Gonadal Dysgenesis, XO|Monosomy X|Status Bonnevie Ullrich|Status Bonnevie-Ullrich|Syndrome, Ullrich-Turner|Turner's Syndrome|Turners Syndrome|Ullrich Turner Syndrome|Ullrich-Turner Syndrome|XO Gonadal Dysgenesis Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Turner Syndrome-Associated Neurocognitive Phenotype MESH:C564058 MESH:D014424 C12.050.351.875.253.309.872/C564058|C12.050.351.875.253.795.750/C564058|C12.200.706.316.309.872/C564058|C12.200.706.316.795.750/C564058|C12.800.316.309.872/C564058|C12.800.316.795.750/C564058|C14.240.400.980/C564058|C14.280.400.980/C564058|C16.131.240.400.970/C564058|C16.131.260.830.835.750/C564058|C16.131.939.316.309.872/C564058|C16.131.939.316.795.750/C564058|C16.320.180.830.835.750/C564058|C19.391.119.309.872/C564058|C19.391.119.795.750/C564058 C12.050.351.875.253.309.872|C12.050.351.875.253.795.750|C12.200.706.316.309.872|C12.200.706.316.795.750|C12.800.316.309.872|C12.800.316.795.750|C14.240.400.980|C14.280.400.980|C16.131.240.400.970|C16.131.260.830.835.750|C16.131.939.316.309.872|C16.131.939.316.795.750|C16.320.180.830.835.750|C19.391.119.309.872|C19.391.119.795.750 Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Twenty-Nail Dystrophy MESH:C562907 MESH:D009260|MESH:D009264 C17.800.529/C562907|C23.300.820/C562907 C17.800.529|C23.300.820 Onychodystrophy Totalis, Isolated Pathology (anatomical condition)|Skin disease Twinning due to Superfetation MESH:C566018 MESH:D011248 C12.050.703/C566018 C12.050.703 Superfetation Twinning Pregnancy complication Twins, Conjoined MESH:D014428 MONOZYGOTIC TWINS who are joined in utero. They may be well developed and share only a superficial connection, often in the frontal, transverse or sagittal body plane, or they may share a partial duplication of a body structure. Alternatively, there may be a small and incompletely developed twin conjoined to a larger, more fully developed twin. MESH:D009008 C16.131.085.806 C16.131.085 Conjoined Twin|Conjoined Twins|Siamese Twin|Siamese Twins|Twin, Conjoined|Twin, Siamese|Twins, Siamese Congenital abnormality Tympanic Membrane Perforation MESH:D018058 A temporary or persistent opening in the eardrum (TYMPANIC MEMBRANE). Clinical signs depend on the size, location, and associated pathological condition. MESH:D004427|MESH:D014947 C09.218.903|C26.930 C09.218|C26 Eardrum Perforation|Membrane Perforation, Tympanic|Membrane Rupture, Tympanic|Perforation, Eardrum|Rupture, Tympanic Membrane|Tympanic Membrane Rupture Ear-nose-throat disease|Wounds and injuries Tympanosclerosis MESH:D000092163 Calcification of the TYMPANIC MEMBRANE and MIDDLE EAR most often associated with chronic OTITIS MEDIA. MESH:D004427 C09.218.951 C09.218 Calcification, Tympanic|Intratympanic Tympanosclerosis|Tympanic Calcification|Tympanoscleroses|Tympanosclerosis, Intratympanic Ear-nose-throat disease TYPE 1 DIABETES MELLITUS, X-LINKED, SUSCEPTIBILITY TO OMIM:300136 MESH:D003922 C18.452.394.750.124/300136|C19.246.267/300136|C20.111.327/300136 C18.452.394.750.124|C19.246.267|C20.111.327 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO|IDDMX|INSULIN-DEPENDENT DIABETES MELLITUS, X-LINKED, SUSCEPTIBILITY TO|T1DX Endocrine system disease|Immune system disease|Metabolic disease TYPE 2 DIABETES 5 OMIM:616087 MESH:D003924 C18.452.394.750.149/616087|C19.246.300/616087 C18.452.394.750.149|C19.246.300 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5|NIDDM5|T2D5 Endocrine system disease|Metabolic disease Typhlitis MESH:D053706 Necrotizing inflammation of the CECUM ('typhlon' in Greek), sometimes spreading to the APPENDIX and/or the ILEUM. Symptoms include ABDOMINAL PAIN and DIARRHEA. Its pathogenesis is multifactorial. Typhlitis is often associated with NEUTROPENIA and chemotherapy in immunocompromised individuals (IMMUNOCOMPROMISED HOST). MESH:D002429|MESH:D044504|MESH:D059413 C01.463.850|C06.405.205.596.750.500|C06.405.469.110.708 C01.463|C06.405.205.596.750|C06.405.469.110 Cecitis|Neutropenic Typhlitis|Typhlitis, Neutropenic Digestive system disease Typhoid Fever MESH:D014435 DO:DOID:13258 An acute systemic febrile infection caused by SALMONELLA TYPHI, a serotype of SALMONELLA ENTERICA. MESH:D012480 C01.150.252.400.310.821.873 C01.150.252.400.310.821 Abdominal Typhus|Enteric Fever|Enteric Fevers|Fever, Enteric|Fevers, Enteric|Fevers, Typhoid|Fever, Typhoid|Infection, Salmonella typhi|Infections, Salmonella typhi|Salmonella typhi Infection|Salmonella typhi Infections|Typhoid|Typhoid Fevers|Typhoids|Typhus, Abdominal Bacterial infection or mycosis Typhus, Endemic Flea-Borne MESH:D014437 DO:DOID:11256 An infectious disease clinically similar to epidemic louse-borne typhus (TYPHUS, EPIDEMIC LOUSE-BORNE), but caused by RICKETTSIA TYPHI, which is transmitted from rat to man by the rat flea, XENOPSYLLA CHEOPIS. MESH:D012282 C01.150.252.400.789.725.800|C01.920.914.725.800 C01.150.252.400.789.725|C01.920.914.725 Endemic Flea-Borne Typhus|Endemic Typhus|Flea-Borne Typhus, Endemic|Infection, Murine Typhus|Infection, Rickettsia typhi|Infections, Murine Typhus|Infections, Rickettsia typhi|Murine Typhus|Murine Typhus Infection|Murine Typhus Infections|Rickettsia typhi Infection|Rickettsia typhi Infections|Typhus, Endemic|Typhus, Endemic Flea Borne|Typhus Infection, Murine|Typhus Infections, Murine|Typhus, Murine Bacterial infection or mycosis Typhus, Epidemic Louse-Borne MESH:D014438 DO:DOID:11254|DO:DOID:11256 The classic form of typhus, caused by RICKETTSIA PROWAZEKII, which is transmitted from man to man by the louse Pediculus humanus corporis. This disease is characterized by the sudden onset of intense headache, malaise, and generalized myalgia followed by the formation of a macular skin eruption and vascular and neurologic disturbances. MESH:D012282 C01.150.252.400.789.725.805|C01.920.914.725.805 C01.150.252.400.789.725|C01.920.914.725 Brill Disease|Brill's Disease|Brills Disease|Brill Zinsser Disease|Brill-Zinsser Disease|Epidemic Louse-Borne Typhus|Epidemic Typhus|Fever, Jail|Infection, Rickettsia prowazekii|Jail Fever|Louse Borne Typhus|Louse-Borne Typhus|Louse-Borne Typhus, Epidemic|Rickettsia prowazekii Infection|Rickettsia prowazekii Infections|Typhus|Typhus, Epidemic|Typhus, Epidemic Louse Borne|Typhus, Louse-Borne Bacterial infection or mycosis Typical Teratoid Rhabdoid Tumor MESH:C000597569 MESH:D013724|MESH:D018335 C04.557.435.710/C000597569|C04.557.465.910/C000597569 C04.557.435.710|C04.557.465.910 Teratoid Rhabdoid Tumor|Teratoma Rhabdoid Tumor|Typical Teratoma Rhabdoid Tumor|Typical Teratoma-Rhabdoid Tumor Cancer Tyrosine Kinase 2 Deficiency MESH:C566928 DO:DOID:0111989|OMIM:611521 MESH:D007589 C15.378.553.774.600/C566928|C16.320.798.688/C566928|C20.673.774.600/C566928|C20.673.795.688/C566928 C15.378.553.774.600|C16.320.798.688|C20.673.774.600|C20.673.795.688 HIES with Atypical Mycobacteriosis, Autosomal Recessive|Hyper-IgE Syndrome with Atypical Mycobacteriosis, Autosomal Recessive|IMD35|IMMUNODEFICIENCY 35|TYK2 Deficiency|TYROSINE KINASE 2 DEFICIENCY Blood disease|Genetic disease (inborn)|Immune system disease Tyrosinemias MESH:D020176 OMIM:276600|OMIM:276700|OMIM:276710 A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) MESH:D000592|MESH:D020739 C10.228.140.163.100.875|C16.320.565.100.880|C16.320.565.189.875|C18.452.132.100.875|C18.452.648.100.880|C18.452.648.189.875 C10.228.140.163.100|C16.320.565.100|C16.320.565.189|C18.452.132.100|C18.452.648.100|C18.452.648.189 2 Tyrosinemias, Type|4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease|4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease|4-Hydroxyphenylpyruvate Dioxygenase Deficiency|4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease|4-Hydroxyphenylpyruvic Acid Oxidase Deficiency|Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase|Deficiencies, Fumarylacetoacetase|Deficiencies, Tat|Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase|Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase|Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase|Deficiency Disease, Fumarylacetoacetase|Deficiency Diseases, Fumarylacetoacetase|Deficiency Disease, Tyrosine Transaminase|Deficiency, Fumarylacetoacetase|Deficiency, Tat|Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate|Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate|Disease, Fumarylacetoacetase Deficiency|Diseases, Fumarylacetoacetase Deficiency|FAH DEFICIENCY|Fumarylacetoacetase Deficiencies|Fumarylacetoacetase Deficiency|Fumarylacetoacetase Deficiency Disease|Fumarylacetoacetase Deficiency Diseases|Hepatorenal Tyrosinemia|Hepatorenal Tyrosinemias|Hereditary Tyrosinemia|Hereditary Tyrosinemias|Hereditary Tyrosinemia, Type I|Hereditary Tyrosinemia, Type II|Hereditary Tyrosinemia, Type III|Hypertyrosinemia|Hypertyrosinemias, Type I|Hypertyrosinemia, Type I|Keratosis Palmoplantaris with Corneal Dystrophy|Oculocutaneous Type Tyrosinoses|Oculocutaneous Type Tyrosinosis|Oregon Type Tyrosinemia|Richner Hanhart Syndrome|Richner-Hanhart Syndrome|Richner-Hanhart Syndromes|Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type|Syndrome, Richner-Hanhart|Syndromes, Richner-Hanhart|Tat Deficiencies|Tat Deficiency|Type 2 Tyrosinemia|Type 2 Tyrosinemias|Type I Hypertyrosinemia|Type I Hypertyrosinemias|Type III Tyrosinemia|Type III Tyrosinemias|Type II Tyrosinemia|Type II Tyrosinemias|Type I Tyrosinemia|Type I Tyrosinemias|Type Tyrosinoses, Oculocutaneous|Type Tyrosinosis, Oculocutaneous|Tyrosine Aminotransferase Deficiency|Tyrosinemia|Tyrosinemia, Hepatorenal|Tyrosinemia, Hereditary|Tyrosinemias, Hepatorenal|Tyrosinemias, Hereditary|Tyrosinemias, Type 2|Tyrosinemias, Type I|Tyrosinemias, Type II|Tyrosinemias, Type III|Tyrosinemia Type 1|Tyrosinemia Type 1s|Tyrosinemia, Type 2|Tyrosinemia, Type I|Tyrosinemia, Type II|Tyrosinemia, Type III|Tyrosine Transaminase Deficiency|Tyrosine Transaminase Deficiency Disease|Tyrosinoses, Oculocutaneous Type|Tyrosinosis, Oculocutaneous Type|TYRSN1|TYRSN2|TYRSN3 Genetic disease (inborn)|Metabolic disease|Nervous system disease Tyrosinosis MESH:C562659 MESH:D000592 C16.320.565.100/C562659|C18.452.648.100/C562659 C16.320.565.100|C18.452.648.100 Genetic disease (inborn)|Metabolic disease Uhl anomaly MESH:C536932 DO:DOID:0110070 MESH:D002311|MESH:D006330 C14.240.400/C536932|C14.280.195.160/C536932|C14.280.238.070/C536932|C14.280.400/C536932|C16.131.240.400/C536932|C16.320.488.750/C536932 C14.240.400|C14.280.195.160|C14.280.238.070|C14.280.400|C16.131.240.400|C16.320.488.750 Parchment right ventricle|Uhl's anomaly Cardiovascular disease|Congenital abnormality|Genetic disease (inborn) Ulcer MESH:D014456 A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue. MESH:D010335 C23.550.891 C23.550 Ulcers Pathology (process) Ulna Fractures MESH:D014458 Fractures of the larger bone of the forearm. MESH:D005543|MESH:D050723 C26.088.268.807|C26.404.937 C26.088.268|C26.404 Fractures, Ulna|Fracture, Ulna|Ulna Fracture Wounds and injuries Ulna hypoplasia with mental retardation MESH:C536934 MESH:D001848|MESH:D003025|MESH:D008607|MESH:D009264 C05.116.099/C536934|C05.330.488.655.063/C536934|C05.330.495.681.063/C536934|C05.660.585.512.380.813.063/C536934|C10.597.606.360/C536934|C16.131.621.585.512.500.681.063/C536934|C23.300.820/C536934|C23.888.592.604.646/C536934|F03.625.539/C536934 C05.116.099|C05.330.488.655.063|C05.330.495.681.063|C05.660.585.512.380.813.063|C10.597.606.360|C16.131.621.585.512.500.681.063|C23.300.820|C23.888.592.604.646|F03.625.539 Bilateral ulnar hypoplasia and mental retardation|Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Ulna metaphyseal dysplasia syndrome MESH:C536935 MESH:D010009 C05.116.099.708/C536935|C16.320.728/C536935 C05.116.099.708|C16.320.728 Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna|Metaphyseal Chondrodysplasia, Rosenberg Type|Metaphyseal chondroplasia Rosenberg type|Rosenberg Lohr syndrome Genetic disease (inborn)|Musculoskeletal disease Ulnar Agenesis and Endocardial Fibroelastosis MESH:C564756 MESH:D004695 C14.280.238.281/C564756 C14.280.238.281 Cardiovascular disease Ulnar-Fibular Ray Defect and Brachydactyly MESH:C563905 MESH:D059327 C05.660.585.262/C563905|C16.131.621.585.262/C563905 C05.660.585.262|C16.131.621.585.262 Congenital abnormality|Musculoskeletal disease Ulnar hypoplasia lobster claw deformity of feet MESH:C536936 MESH:D005532|MESH:D038062 C05.330.495/C536936|C05.660.585.512.380/C536936|C05.660.585.988/C536936|C16.131.621.585.512.500/C536936|C16.131.621.585.988/C536936 C05.330.495|C05.660.585.512.380|C05.660.585.988|C16.131.621.585.512.500|C16.131.621.585.988 Familial ulnar aplasia and lobster claw syndrome|Severe ulnar aplasia and lobster claw feet|Ulnar Hypoplasia with Lobster-Claw Deformity of Feet|van den Berghe Dequeker syndrome Congenital abnormality|Musculoskeletal disease Ulnar Hypoplasia with Mental Retardation MESH:C564757 MESH:D008607|MESH:D009264|MESH:D017880 C05.660.585/C564757|C10.597.606.360/C564757|C16.131.621.585/C564757|C23.300.820/C564757|C23.888.592.604.646/C564757|F03.625.539/C564757 C05.660.585|C10.597.606.360|C16.131.621.585|C23.300.820|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Ulnar-mammary syndrome MESH:C536937 DO:DOID:0060614|OMIM:181450 MESH:D000015|MESH:D001941 C16.131.077/C536937|C17.800.090/C536937 C16.131.077|C17.800.090 PALLISTER ULNAR-MAMMARY SYNDROME|Schinzel syndrome|Ulnar-mammary syndrome of Pallister|UMS Congenital abnormality|Skin disease Ulnar Nerve Compression Syndromes MESH:D017769 Ulnar neuropathies caused by mechanical compression of the nerve at any location from its origin at the BRACHIAL PLEXUS to its terminations in the hand. Common sites of compression include the retroepicondylar groove, cubital tunnel at the elbow (CUBITAL TUNNEL SYNDROME), and Guyon's canal at the wrist. Clinical features depend on the site of injury, but may include weakness or paralysis of wrist flexion, finger flexion, and ulnar innervated intrinsic hand muscles, and impaired sensation over the ulnar aspect of the hand, fifth finger, and ulnar half of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43) MESH:D009408|MESH:D012090|MESH:D020424 C10.668.829.500.850.600|C10.668.829.550.925|C26.844.150.957 C10.668.829.500.850|C10.668.829.550|C26.844.150 Compression, Ulnar Nerve|Entrapments, Ulnar Nerve|Entrapment Syndrome, Ulnar Nerve|Entrapment, Ulnar Nerve|External Compression Syndrome, Ulnar Nerve|Guyon Syndrome|Guyon Syndromes|Nerve Compression, Ulnar|Nerve Entrapment, Ulnar|Syndrome, Guyon|Syndromes, Guyon|Ulnar Nerve Compression|Ulnar Nerve Compressions|Ulnar Nerve Entrapment|Ulnar Nerve Entrapment at the Wrist|Ulnar Nerve Entrapments|Ulnar Nerve Entrapment Syndrome|Ulnar Nerve External Compression Syndrome Nervous system disease|Wounds and injuries Ulnar Neuropathies MESH:D020424 DO:DOID:4613 Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5) MESH:D020422 C10.668.829.500.850 C10.668.829.500 Nerve Diseases, Ulnar|Nerve Disease, Ulnar|Nerve Palsies, Ulnar|Nerve Palsy, Ulnar|Neuritides, Ulnar|Neuritis, Ulnar|Neuropathies, Ulnar|Neuropathy, Ulnar|Palsies, Ulnar Nerve|Palsy, Ulnar Nerve|Ulnar Nerve Disease|Ulnar Nerve Diseases|Ulnar Nerve Palsies|Ulnar Nerve Palsy|Ulnar Neuritides|Ulnar Neuritis|Ulnar Neuropathy Nervous system disease Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia MESH:C565783 MESH:D017689|MESH:D052177 C05.660.585.600/C565783|C12.050.351.968.419.403/C565783|C12.200.777.419.403/C565783|C12.950.419.403/C565783|C16.131.621.585.600/C565783 C05.660.585.600|C12.050.351.968.419.403|C12.200.777.419.403|C12.950.419.403|C16.131.621.585.600 Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Umbilical cord ulceration and intestinal atresia MESH:C536938 MESH:D007409|MESH:D014456 C06.198.719/C536938|C06.405.469.445/C536938|C16.131.314.466/C536938|C23.550.891/C536938 C06.198.719|C06.405.469.445|C16.131.314.466|C23.550.891 Umbilical cord ulcer with intestinal atresia|Umbilical ulceration and intestinal atresia Congenital abnormality|Digestive system disease|Pathology (process) Uncombable hair syndrome MESH:C536939 OMIM:191480|OMIM:617251|OMIM:617252 MESH:D006201 C17.800.329/C536939 C17.800.329 Cheveux incoiffables|Pili trianguli et Canaliculi|UHS|UHS1|UHS2|UHS3|UNCOMBABLE HAIR SYNDROME|UNCOMBABLE HAIR SYNDROME 1|UNCOMBABLE HAIR SYNDROME 2|UNCOMBABLE HAIR SYNDROME 3|Unmanageable hair syndrome Skin disease Unconsciousness MESH:D014474 Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli. (From Adams et al., Principles of Neurology, 6th ed, pp344-5) MESH:D003244 C10.597.606.358.800|C23.888.592.604.359.800 C10.597.606.358|C23.888.592.604.359 Consciousness, Loss of|Loss of Consciousness|State, Unconscious|Unconscious State|Unconscious States Nervous system disease|Signs and symptoms Undiagnosed Diseases MESH:D000080842 Rare and common diseases lacking a diagnosis. MESH:D020969 C23.550.291.968 C23.550.291 Disease, Undiagnosed|Undiagnosed Disease Pathology (process) Undifferentiated Connective Tissue Diseases MESH:D000074079 Diseases that exhibit signs and symptoms suggestive of a connective tissue disease that do not fulfill clinical or diagnostic criteria for any one defined disease but overlap with criteria of multiple such diseases. Commonly overlapping diseases include systemic autoimmune connective tissue diseases such as RHEUMATOID ARTHRITIS; SYSTEMIC LUPUS ERYTHEMATOSUS; and SYSTEMIC SCLEROSIS. MESH:D001327|MESH:D003240 C17.300.849|C20.111.904 C17.300|C20.111 Undifferentiated Connective Tissue Disease Connective tissue disease|Immune system disease Undritz Anomaly MESH:C566014 MESH:D007960 C15.378.553/C566014 C15.378.553 Hypersegmentation of Nuclei of Polymorphonuclear Leukocytes Blood disease unicuspid aortic valve MESH:C000655292 MESH:D006349 C14.280.484/C000655292 C14.280.484 acommissural aortic valve|acommissural UAV|acommissural unicuspid aortic valve|unicommissural aortic valve|unicommissural UAV|unicommissural unicuspid aortic valve|unicuspid acommissural aortic valve|unicuspid aortic valves|unicuspid unicommissural aortic valve Cardiovascular disease Unilateral Breast Neoplasms MESH:D000069584 Tumors or cancer found specifically in one human BREAST, but not in both. MESH:D001943 C04.588.180.800|C17.800.090.500.682 C04.588.180|C17.800.090.500 Breast Cancer, Left-Sided|Breast Cancer, Right-Sided|Breast Cancers, Left-Sided|Breast Cancers, Right-Sided|Breast Cancers, Unilateral|Breast Cancer, Unilateral|Breast Neoplasm, Left-Sided|Breast Neoplasm, Right-Sided|Breast Neoplasms, Left-Sided|Breast Neoplasms, Right-Sided|Breast Neoplasms, Unilateral|Breast Neoplasm, Unilateral|Left Sided Breast Cancer|Left-Sided Breast Cancer|Left-Sided Breast Cancers|Left Sided Breast Neoplasm|Left-Sided Breast Neoplasm|Left Sided Breast Neoplasms|Left-Sided Breast Neoplasms|Right Sided Breast Cancer|Right-Sided Breast Cancer|Right-Sided Breast Cancers|Right Sided Breast Neoplasm|Right-Sided Breast Neoplasm|Right Sided Breast Neoplasms|Right-Sided Breast Neoplasms|Unilateral Breast Cancer|Unilateral Breast Cancers Cancer|Skin disease Uniparental Disomy MESH:D024182 The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy). MESH:D009630 C23.550.210.645.890 C23.550.210.645 Disomies, Uniparental|Disomy, Uniparental|Heterodisomies, Uniparental|Heterodisomy, Uniparental|Isodisomies, Uniparental|Uniparental Disomies|Uniparental Heterodisomies|Uniparental Heterodisomy|Uniparental Isodisomies|Uniparental Isodisomy Pathology (process) Uniparental disomy of 11 MESH:C536468 MESH:D024182 C23.550.210.645.890/C536468 C23.550.210.645.890 Paternal uniparental disomy for chromosome 11(type)|Uniparental disomy of chromosome 11 Pathology (process) Uniparental disomy of 13 MESH:C536469 MESH:D024182 C23.550.210.645.890/C536469 C23.550.210.645.890 Maternal uniparental disomy 13|Maternal uniparental disomy of chromosome 13|Paternal uniparental disomy 13|Paternal uniparental disomy of chromosome 13|Uniparental disomy of chromosome 13 Pathology (process) Uniparental disomy of chromosome 2 MESH:C536470 MESH:D024182 C23.550.210.645.890/C536470 C23.550.210.645.890 Uniparental disomy of 2 Pathology (process) Uniparental disomy, paternal, chromosome 14 MESH:C536471 MESH:D024182 C23.550.210.645.890/C536471 C23.550.210.645.890 Kagami-Ogata syndrome|Paternal uniparental disomy 14 Pathology (process) Univentricular Heart MESH:D000080039 Rare congenital heart malformation with a single ventricle (HEART VENTRICLES) instead of the usual two. MESH:D006330 C14.240.400.990|C14.280.400.990|C16.131.240.400.975 C14.240.400|C14.280.400|C16.131.240.400 Complex Single Ventricle|Complex Single Ventricles|Univentricular Hearts|Ventricle, Complex Single Cardiovascular disease|Congenital abnormality Unverricht-Lundborg Syndrome MESH:D020194 DO:DOID:3535|OMIM:254800 An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, DYSARTHRIA, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110) MESH:D020191|MESH:D020271 C10.228.140.490.375.130.650.900|C10.228.140.490.493.063.650.900|C10.574.500.875|C16.320.400.940 C10.228.140.490.375.130.650|C10.228.140.490.493.063.650|C10.574.500|C16.320.400 Baltic Myoclonic Epilepsies|Baltic Myoclonic Epilepsy|Baltic Myoclonus|Baltic Myoclonus Epilepsies|Baltic Myoclonus Epilepsy|Diseases, Unverricht|Diseases, Unverricht-Lundborg|Disease, Unverricht|Disease, Unverricht-Lundborg|Epilepsies, Baltic Myoclonic|Epilepsies, Baltic Myoclonus|Epilepsy, Baltic Myoclonic|Epilepsy, Baltic Myoclonus|Epilepsy, Mediterranean Myoclonic|Epilepsy, Progressive Myoclonic 1|EPILEPSY, PROGRESSIVE MYOCLONIC, 1|Epilepsy, Progressive Myoclonic 1a|EPILEPSY, PROGRESSIVE MYOCLONIC, 1A|Epilepsy, Progressive Myoclonic Type 1|Epilepsy, Progressive Myoclonus 1|EPM1|EPM1A|Lundborg Unverricht Syndrome|Lundborg-Unverricht Syndrome|Mediterranean Myoclonic Epilepsy|Myoclonic Epilepsies, Baltic|Myoclonic Epilepsy, Baltic|Myoclonic Epilepsy, Mediterranean|Myoclonic Epilepsy of Unverricht and Lundborg|Myoclonus, Baltic|Myoclonus Epilepsies, Baltic|Myoclonus Epilepsy, Baltic|Myoclonus Progressive Epilepsy of Unverricht and Lundborg|PME|PROGRESSIVE MYOCLONIC EPILEPSY|Progressive Myoclonus Epilepsy 1|Progressive Myoclonus Epilepsybaltic Myoclonic Epilepsy|Syndrome, Lundborg-Unverricht|Syndrome, Unverricht-Lundborg|ULD|Unverricht Disease|Unverricht Diseases|Unverricht Lundborg Disease|Unverricht-Lundborg Disease|Unverricht-Lundborg Diseases|Unverricht Lundborg Syndrome Genetic disease (inborn)|Nervous system disease Upington disease MESH:C536472 MESH:D010009 C05.116.099.708/C536472|C16.320.728/C536472 C05.116.099.708|C16.320.728 Familial dyschondroplasia|Perthes-like hip disease, enchondromata, and ecchondromata Genetic disease (inborn)|Musculoskeletal disease upper airway cough syndrome MESH:C000726767 MESH:D015619 C08.695/C000726767|C16.131.740/C000726767 C08.695|C16.131.740 post-nasal drip syndrome Congenital abnormality|Respiratory tract disease Upper Extremity Deep Vein Thrombosis MESH:D056824 DEEP VEIN THROMBOSIS of an upper extremity vein (e.g., AXILLARY VEIN; SUBCLAVIAN VEIN; and JUGULAR VEINS). It is associated with mechanical factors (Upper Extremity Deep Vein Thrombosis, Primary) secondary to other anatomic factors (Upper Extremity Deep Vein Thrombosis, Secondary). Symptoms may include sudden onset of pain, warmth, redness, blueness, and swelling in the arm. MESH:D020246 C14.907.355.830.925.885 C14.907.355.830.925 Central Venous Catheter Thrombosis|Effort Induced Upper Extremity Deep Vein Thrombosis|Effort-Induced Upper Extremity Deep Vein Thrombosis|Effort Related Upper Extremity Deep Vein Thrombosis|Effort-Related Upper Extremity Deep Vein Thrombosis|Exercise Induced Upper Extremity Deep Vein Thrombosis|Exercise-Induced Upper Extremity Deep Vein Thrombosis|Idiopathic Upper Extremity Deep Vein Thrombosis|Paget Schroetter Syndrome|Paget-Schroetter Syndrome|Syndrome, Paget-Schroetter|Upper Extremity Deep Vein Thrombosis, Primary|Upper Extremity Deep Vein Thrombosis, Secondary Cardiovascular disease Upper Extremity Deformities, Congenital MESH:D038062 Congenital structural abnormalities of the UPPER EXTREMITY. MESH:D017880 C05.660.585.988|C16.131.621.585.988 C05.660.585|C16.131.621.585 Upper Limb Deformities, Congenital Congenital abnormality|Musculoskeletal disease Upton Young syndrome MESH:C536473 MESH:D008607|MESH:D012871 C10.597.606.360/C536473|C17.800/C536473|C23.888.592.604.646/C536473|F03.625.539/C536473 C10.597.606.360|C17.800|C23.888.592.604.646|F03.625.539 Mental retardation and multiple nevi|Severe developmental delay and multiple strawberry naevi Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Urachal adenocarcinoma MESH:C536474 MESH:D000230|MESH:D001749 C04.557.470.200.025/C536474|C04.588.945.947.960/C536474|C12.050.351.937.820.945/C536474|C12.050.351.968.829.707/C536474|C12.200.758.820.968/C536474|C12.200.777.829.813/C536474|C12.900.820.945/C536474|C12.950.829.707/C536474|C12.950.983.945/C536474 C04.557.470.200.025|C04.588.945.947.960|C12.050.351.937.820.945|C12.050.351.968.829.707|C12.200.758.820.968|C12.200.777.829.813|C12.900.820.945|C12.950.829.707|C12.950.983.945 Adenocarcinoma of the urachus Cancer|Urogenital disease (female)|Urogenital disease (male) Urachal cancer MESH:C536475 DO:DOID:5958 MESH:D001749 C04.588.945.947.960/C536475|C12.050.351.937.820.945/C536475|C12.050.351.968.829.707/C536475|C12.200.758.820.968/C536475|C12.200.777.829.813/C536475|C12.900.820.945/C536475|C12.950.829.707/C536475|C12.950.983.945/C536475 C04.588.945.947.960|C12.050.351.937.820.945|C12.050.351.968.829.707|C12.200.758.820.968|C12.200.777.829.813|C12.900.820.945|C12.950.829.707|C12.950.983.945 Urachal carcinoma Cancer|Urogenital disease (female)|Urogenital disease (male) Urachal Cyst MESH:D014496 Cyst occurring in a persistent portion of the urachus, presenting as an extraperitoneal mass in the umbilical region. It is characterized by abdominal pain, and fever if infected. It may rupture, leading to peritonitis, or it may drain through the umbilicus. MESH:D003560 C04.182.946 C04.182 Cysts, Umbilical|Cysts, Urachal|Cyst, Umbilical|Cyst, Urachal|Umbilical Cyst|Umbilical Cysts|Urachal Cysts Cancer Urate-Binding Globulin, Decrease in MESH:C566013 MESH:D006073 C05.550.114.423/C566013|C05.550.354.500/C566013|C05.799.414/C566013|C16.320.565.798.368/C566013|C18.452.648.798.368/C566013 C05.550.114.423|C05.550.354.500|C05.799.414|C16.320.565.798.368|C18.452.648.798.368 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease Urban Schosser Spohn syndrome MESH:C536476 MESH:D000505|MESH:D007642|MESH:D012868 C16.131.831/C536476|C17.800.329.937.122/C536476|C17.800.428/C536476|C17.800.804/C536476|C23.300.035/C536476 C16.131.831|C17.800.329.937.122|C17.800.428|C17.800.804|C23.300.035 Hereditary mucoepithelial dysplasia|Mucoepithelial dysplasia, Hereditary Congenital abnormality|Pathology (anatomical condition)|Skin disease Urea Cycle Disorders, Inborn MESH:D056806 DO:DOID:9267 Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA. MESH:D000592|MESH:D020739 C10.228.140.163.100.937|C16.320.565.100.940|C16.320.565.189.937|C18.452.132.100.937|C18.452.648.100.940|C18.452.648.189.937 C10.228.140.163.100|C16.320.565.100|C16.320.565.189|C18.452.132.100|C18.452.648.100|C18.452.648.189 Disorders, Urea Cycle|Disorder, Urea Cycle|Inborn Urea Cycle Disorder|Urea Cycle Disorder|Urea Cycle Disorders Genetic disease (inborn)|Metabolic disease|Nervous system disease Ureaplasma Infections MESH:D016869 Infections with bacteria of the genus UREAPLASMA. MESH:D009180 C01.150.252.400.610.850 C01.150.252.400.610 Infections, Ureaplasma|Infection, Ureaplasma|Ureaplasma Infection Bacterial infection or mycosis Uremia MESH:D014511 DO:DOID:4676 A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms. MESH:D007674 C12.050.351.968.419.936|C12.200.777.419.936|C12.950.419.936 C12.050.351.968.419|C12.200.777.419|C12.950.419 Uremias Urogenital disease (female)|Urogenital disease (male) Ureteral Calculi MESH:D014514 Stones in the URETER that are formed in the KIDNEY. They are rarely more than 5 mm in diameter for larger renal stones cannot enter ureters. They are often lodged at the ureteral narrowing and can cause excruciating renal colic. MESH:D014545|MESH:D053039 C12.050.351.968.725.938.500|C12.050.351.968.967.374.500|C12.050.351.968.967.500.851|C12.200.777.725.938.500|C12.200.777.967.374.500|C12.200.777.967.500.851|C12.950.725.938.500|C12.950.967.374.500|C12.950.967.500.851|C23.300.175.850.750 C12.050.351.968.725.938|C12.050.351.968.967.374|C12.050.351.968.967.500|C12.200.777.725.938|C12.200.777.967.374|C12.200.777.967.500|C12.950.725.938|C12.950.967.374|C12.950.967.500|C23.300.175.850 Calculi, Ureteral|Calculus, Ureteral|Ureteral Calculus Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Ureteral Diseases MESH:D014515 DO:DOID:1426 Pathological processes involving the URETERS. MESH:D014570 C12.050.351.968.725|C12.200.777.725|C12.950.725 C12.050.351.968|C12.200.777|C12.950 Diseases, Ureteral|Disease, Ureteral|Ureteral Disease Urogenital disease (female)|Urogenital disease (male) Ureteral Neoplasms MESH:D014516 DO:DOID:11819|DO:DOID:11885 Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom. MESH:D014515|MESH:D014571 C04.588.945.947.940|C12.050.351.937.820.875|C12.050.351.968.725.676|C12.200.758.820.875|C12.200.777.725.676|C12.900.820.875|C12.950.725.676|C12.950.983.875 C04.588.945.947|C12.050.351.937.820|C12.050.351.968.725|C12.200.758.820|C12.200.777.725|C12.900.820|C12.950.725|C12.950.983 Cancer of the Ureter|Cancer of Ureter|Cancers, Ureteral|Cancer, Ureteral|Neoplasms of Ureter|Neoplasms, Ureteral|Neoplasm, Ureteral|Ureteral Cancer|Ureteral Cancers|Ureteral Neoplasm|Ureter Cancer|Ureter, Cancer Of|Ureter Cancers|Ureter Neoplasm|Ureter Neoplasms Cancer|Urogenital disease (female)|Urogenital disease (male) Ureteral Obstruction MESH:D014517 Blockage in any part of the URETER causing obstruction of urine flow from the kidney to the URINARY BLADDER. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as HYDRONEPHROSIS and obstructive nephropathy. MESH:D014515 C12.050.351.968.725.776|C12.200.777.725.776|C12.950.725.776 C12.050.351.968.725|C12.200.777.725|C12.950.725 Obstructions, Ureteral|Obstruction, Ureteral|Ureteral Obstructions Urogenital disease (female)|Urogenital disease (male) Ureter, Bifid Or Double MESH:C566012 MESH:D014564 C12.050.351.875/C566012|C12.200.706/C566012|C12.800/C566012|C16.131.939/C566012 C12.050.351.875|C12.200.706|C12.800|C16.131.939 Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Ureterocele MESH:D014518 DO:DOID:4022 A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow. MESH:D014515 C12.050.351.968.725.876|C12.200.777.725.876|C12.950.725.876 C12.050.351.968.725|C12.200.777.725|C12.950.725 Ureteroceles Urogenital disease (female)|Urogenital disease (male) Ureterolithiasis MESH:D053039 DO:DOID:14146 Formation of stones in the URETER. MESH:D014515|MESH:D052878 C12.050.351.968.725.938|C12.050.351.968.967.374|C12.200.777.725.938|C12.200.777.967.374|C12.950.725.938|C12.950.967.374 C12.050.351.968.725|C12.050.351.968.967|C12.200.777.725|C12.200.777.967|C12.950.725|C12.950.967 Ureterolithiases Urogenital disease (female)|Urogenital disease (male) Urethral Diseases MESH:D014522 DO:DOID:732 Pathological processes involving the URETHRA. MESH:D014570 C12.050.351.968.767|C12.200.777.767|C12.950.767 C12.050.351.968|C12.200.777|C12.950 Diseases, Urethral|Disease, Urethral|Urethral Disease Urogenital disease (female)|Urogenital disease (male) Urethral Neoplasms MESH:D014523 DO:DOID:730|DO:DOID:734 Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males. MESH:D014522|MESH:D014571 C04.588.945.947.945|C12.050.351.937.820.890|C12.050.351.968.767.601|C12.200.758.820.937|C12.200.777.767.601|C12.900.820.890|C12.950.767.601|C12.950.983.890 C04.588.945.947|C12.050.351.937.820|C12.050.351.968.767|C12.200.758.820|C12.200.777.767|C12.900.820|C12.950.767|C12.950.983 Cancer of the Urethra|Cancer of Urethra|Cancers, Urethra|Cancers, Urethral|Cancer, Urethra|Cancer, Urethral|Neoplasms, Urethra|Neoplasms, Urethral|Neoplasm, Urethra|Neoplasm, Urethral|Urethra Cancer|Urethra Cancers|Urethral Cancer|Urethral Cancers|Urethral Neoplasm|Urethra Neoplasm|Urethra Neoplasms Cancer|Urogenital disease (female)|Urogenital disease (male) Urethral Obstruction MESH:D014524 DO:DOID:12577 Partial or complete blockage in any part of the URETHRA that can lead to difficulty or inability to empty the URINARY BLADDER. It is characterized by an enlarged, often damaged, bladder with frequent urges to void. MESH:D014522 C12.050.351.968.767.700|C12.200.777.767.700|C12.950.767.700 C12.050.351.968.767|C12.200.777.767|C12.950.767 Obstructions, Urethral|Obstruction, Urethral|Urethral Obstructions Urogenital disease (female)|Urogenital disease (male) Urethral obstruction sequence MESH:C536477 MESH:D003251|MESH:D006869|MESH:D011535|MESH:D014524|MESH:D016104|MESH:D016491 C12.050.351.968.419.307/C536477|C12.050.351.968.767.700/C536477|C12.050.703.560/C536477|C12.200.777.419.307/C536477|C12.200.777.767.700/C536477|C12.950.419.307/C536477|C12.950.767.700/C536477|C14.907.617/C536477|C16.131.077.745/C536477|C23.300.287/C536477 C12.050.351.968.419.307|C12.050.351.968.767.700|C12.050.703.560|C12.200.777.419.307|C12.200.777.767.700|C12.950.419.307|C12.950.767.700|C14.907.617|C16.131.077.745|C23.300.287 Early urethral obstruction sequence Cardiovascular disease|Congenital abnormality|Pathology (anatomical condition)|Pregnancy complication|Urogenital disease (female)|Urogenital disease (male) Urethral Stricture MESH:D014525 Narrowing of any part of the URETHRA. It is characterized by decreased urinary stream and often other obstructive voiding symptoms. MESH:D014524 C12.050.351.968.767.700.700|C12.200.777.767.700.700|C12.950.767.700.700 C12.050.351.968.767.700|C12.200.777.767.700|C12.950.767.700 Anterior Urethral Stricture|Anterior Urethral Strictures|Posterior Urethral Stricture|Posterior Urethral Strictures|Stenoses, Urethral|Stenosis, Urethral|Strictures, Urethral|Stricture, Urethral|Urethral Stenoses|Urethral Stenosis|Urethral Stricture, Anterior|Urethral Stricture, Posterior|Urethral Strictures|Urethral Strictures, Anterior|Urethral Strictures, Posterior Urogenital disease (female)|Urogenital disease (male) Urethritis MESH:D014526 DO:DOID:1343 Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both. MESH:D014522 C12.050.351.968.767.851|C12.200.777.767.851|C12.950.767.851 C12.050.351.968.767|C12.200.777.767|C12.950.767 Urethritides Urogenital disease (female)|Urogenital disease (male) URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 OMIM:138900 MESH:D006073|MESH:D033461 C05.550.114.423/138900|C05.550.354.500/138900|C05.799.414/138900|C16.320.565.798.368/138900|C18.452.648.798.368/138900|C23.550.449/138900 C05.550.114.423|C05.550.354.500|C05.799.414|C16.320.565.798.368|C18.452.648.798.368|C23.550.449 GOUT1|GOUT SUSCEPTIBILITY 1|UAQTL1 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Pathology (process) URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4 OMIM:612671 MESH:D006073|MESH:D033461 C05.550.114.423/612671|C05.550.354.500/612671|C05.799.414/612671|C16.320.565.798.368/612671|C18.452.648.798.368/612671|C23.550.449/612671 C05.550.114.423|C05.550.354.500|C05.799.414|C16.320.565.798.368|C18.452.648.798.368|C23.550.449 GOUT4|GOUT SUSCEPTIBILITY 4|UAQTL4 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Pathology (process) Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to MESH:C564859 OMIM:266120 MESH:D000745 C15.378.071.141.150/C564859|C16.320.070/C564859 C15.378.071.141.150|C16.320.070 Hemolytic Anemia due to P5N Deficiency|Hemolytic Anemia due to UMPH1 Deficiency|Hemolytic Anemia due to Uridine 5-Prime Monophosphate Hydrolase Deficiency|P5N DEFICIENCY|Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia due to|UMPH1 Deficiency Blood disease|Genetic disease (inborn) Urinary Bladder Calculi MESH:D001744 DO:DOID:11355 Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths. MESH:D001745|MESH:D014545 C12.050.351.968.829.521|C12.050.351.968.967.500.925|C12.200.777.829.720|C12.200.777.967.500.925|C12.950.829.521|C12.950.967.500.925|C23.300.175.850.875 C12.050.351.968.829|C12.050.351.968.967.500|C12.200.777.829|C12.200.777.967.500|C12.950.829|C12.950.967.500|C23.300.175.850 Bladder Calculi|Bladder Calculi, Urinary|Bladder Calculus|Bladder Calculus, Urinary|Bladder Stone|Bladder Stones|Bladder Stones, Urinary|Bladder Stone, Urinary|Calculi, Bladder|Calculi of Urinary Bladder|Calculi, Urinary Bladder|Calculi, Vesical|Calculus, Bladder|Calculus, Urinary Bladder|Calculus, Vesical|Cystolith|Cystoliths|Stone, Bladder|Stones, Bladder|Stones, Urinary Bladder|Stone, Urinary Bladder|Urinary Bladder Calculus|Urinary Bladder Stone|Urinary Bladder Stones|Vesical Calculi|Vesical Calculus Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Urinary Bladder Diseases MESH:D001745 DO:DOID:365 Pathological processes of the URINARY BLADDER. MESH:D014570 C12.050.351.968.829|C12.200.777.829|C12.950.829 C12.050.351.968|C12.200.777|C12.950 Bladder Disease|Bladder Diseases|Urinary Bladder Disease Urogenital disease (female)|Urogenital disease (male) Urinary Bladder Fistula MESH:D001747 An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ. MESH:D001745|MESH:D014548 C12.050.351.875.881.312|C12.050.351.968.829.548|C12.200.706.881.312|C12.200.777.829.733|C12.800.881.312|C12.950.829.548|C23.300.575.825.250 C12.050.351.875.881|C12.050.351.968.829|C12.200.706.881|C12.200.777.829|C12.800.881|C12.950.829|C23.300.575.825 Fistulas, Urinary Bladder|Fistulas, Vesical|Fistula, Urinary Bladder|Fistula, Vesical|Urinary Bladder Fistulas|Vesical Fistula|Vesical Fistulas Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Urinary Bladder Neck Obstruction MESH:D001748 DO:DOID:13948 Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands. MESH:D001745|MESH:D014524 C12.050.351.968.767.700.850|C12.050.351.968.829.601|C12.200.777.767.700.962|C12.200.777.829.760|C12.950.767.700.850|C12.950.829.601 C12.050.351.968.767.700|C12.050.351.968.829|C12.200.777.767.700|C12.200.777.829|C12.950.767.700|C12.950.829 Bladder Neck Obstruction|Bladder Outlet Obstruction Urogenital disease (female)|Urogenital disease (male) Urinary Bladder Neoplasms MESH:D001749 DO:DOID:11054|OMIM:109800 Tumors or cancer of the URINARY BLADDER. MESH:D001745|MESH:D014571 C04.588.945.947.960|C12.050.351.937.820.945|C12.050.351.968.829.707|C12.200.758.820.968|C12.200.777.829.813|C12.900.820.945|C12.950.829.707|C12.950.983.945 C04.588.945.947|C12.050.351.937.820|C12.050.351.968.829|C12.200.758.820|C12.200.777.829|C12.900.820|C12.950.829|C12.950.983 Bladder Cancer|Bladder Cancers|Bladder Neoplasm|Bladder Neoplasms|Bladder Tumor|Bladder Tumors|Cancer, Bladder|Cancer of Bladder|Cancer of the Bladder|Cancer, Urinary Bladder|Malignant Tumor of Urinary Bladder|Neoplasm, Bladder|Neoplasms, Bladder|Neoplasm, Urinary Bladder|Tumor, Bladder|Tumors, Bladder|Urinary Bladder Cancer|Urinary Bladder Neoplasm Cancer|Urogenital disease (female)|Urogenital disease (male) Urinary Bladder, Neurogenic MESH:D001750 DO:DOID:12143 Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES. MESH:D001745|MESH:D009461 C10.597.900|C12.050.351.968.829.760|C12.200.777.829.839|C12.950.829.760|C23.888.592.900 C10.597|C12.050.351.968.829|C12.200.777.829|C12.950.829|C23.888.592 Atonic Neurogenic Bladder|Bladder Disorder, Neurogenic|Bladder Neurogenesis|Bladder, Neurogenic|Neurogenesis, Bladder|Neurogenesis, Urinary Bladder|Neurogenic Bladder|Neurogenic Bladder, Atonic|Neurogenic Bladder Disorder|Neurogenic Bladder Disorders|Neurogenic Bladder, Spastic|Neurogenic Bladder, Uninhibited|Neurogenic Dysfunction of the Urinary Bladder|Neurogenic Urinary Bladder|Neurogenic Urinary Bladder, Atonic|Neurogenic Urinary Bladder Disorder|Neurogenic Urinary Bladder, Spastic|Neurogenic Urinary Bladder, Uninhibited|Neuropathic Bladder|Spastic Neurogenic Bladder|Uninhibited Neurogenic Bladder|Urinary Bladder Disorder, Neurogenic|Urinary Bladder Neurogenesis|Urinary Bladder Neurogenic Dysfunction Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Urinary Bladder, Overactive MESH:D053201 DO:DOID:0070355 Symptom of overactive detrusor muscle of the URINARY BLADDER that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. URINARY INCONTINENCE may or may not be present. MESH:D001745|MESH:D059411 C12.050.351.968.829.813|C12.200.777.829.866|C12.950.829.813|C23.888.942.343.780 C12.050.351.968.829|C12.200.777.829|C12.950.829|C23.888.942.343 Bladder, Overactive|Detrusor Function, Overactive|Detrusor, Overactive|Overactive Bladder|Overactive Detrusor|Overactive Detrusor Function|Overactive Urinary Bladder Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Urinary Bladder, Underactive MESH:D000077295 Symptom of underactive detrusor muscle of the URINARY BLADDER that contracts with abnormally reduced strength or duration resulting in an incomplete and/or prolonged bladder emptying. MESH:D001745|MESH:D059411 C12.050.351.968.829.867|C12.200.777.829.893|C12.950.829.867|C23.888.942.343.790 C12.050.351.968.829|C12.200.777.829|C12.950.829|C23.888.942.343 Bladder, Hypotonic|Bladder, Underactive|Detrusor Function, Underactive|Detrusor, Underactive|Detrusor Underactivity|Hypotonic Bladder|Hypotonic Bladders|Underactive Bladder|Underactive Bladders|Underactive Detrusor|Underactive Detrusor Function|Underactive Detrusor Functions|Underactive Detrusors|Underactive Urinary Bladder|Underactive Urinary Bladders|Underactivity, Detrusor Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Urinary Calculi MESH:D014545 Low-density crystals or stones in any part of the URINARY TRACT. Their chemical compositions often include CALCIUM OXALATE, magnesium ammonium phosphate (struvite), CYSTINE, or URIC ACID. MESH:D002137|MESH:D052878 C12.050.351.968.967.500|C12.200.777.967.500|C12.950.967.500|C23.300.175.850 C12.050.351.968.967|C12.200.777.967|C12.950.967|C23.300.175 Calculi, Urinary|Calculus, Urinary|Stones, Urinary|Stones, Urinary Tract|Stone, Urinary|Stone, Urinary Tract|Urinary Calculus|Urinary Stone|Urinary Stones|Urinary Tract Stone|Urinary Tract Stones Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Urinary Fistula MESH:D014548 An abnormal passage in any part of the URINARY TRACT between itself or with other organs. MESH:D005402|MESH:D014564 C12.050.351.875.881|C12.200.706.881|C12.800.881|C23.300.575.825 C12.050.351.875|C12.200.706|C12.800|C23.300.575 Fistulas, Urinary|Fistula, Urinary|Urinary Fistulas Pathology (anatomical condition)|Urogenital disease (female)|Urogenital disease (male) Urinary Incontinence MESH:D014549 Involuntary loss of URINE, such as leaking of urine. It is a symptom of various underlying pathological processes. Major types of incontinence include URINARY URGE INCONTINENCE and URINARY STRESS INCONTINENCE. MESH:D014555|MESH:D059411 C12.050.351.968.934.814|C12.200.777.934.852|C12.950.934.814|C23.888.942.343.800 C12.050.351.968.934|C12.200.777.934|C12.950.934|C23.888.942.343 Incontinence, Urinary Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Urinary Incontinence, Stress MESH:D014550 Involuntary discharge of URINE as a result of physical activities that increase abdominal pressure on the URINARY BLADDER without detrusor contraction or overdistended bladder. The subtypes are classified by the degree of leakage, descent and opening of the bladder neck and URETHRA without bladder contraction, and sphincter deficiency. MESH:D014549 C12.050.351.968.934.814.500|C12.200.777.934.852.249|C12.950.934.814.500|C23.888.942.343.800.500 C12.050.351.968.934.814|C12.200.777.934.852|C12.950.934.814|C23.888.942.343.800 Incontinence, Urinary Stress|Stress Incontinence, Urinary|Urinary Stress Incontinence Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Urinary Incontinence, Urge MESH:D053202 Involuntary discharge of URINE that is associated with an abrupt and strong desire to void. It is usually related to the involuntary contractions of the detrusor muscle of the bladder (detrusor hyperreflexia or detrusor instability). MESH:D014549 C12.050.351.968.934.814.750|C12.200.777.934.852.500|C12.950.934.814.750|C23.888.942.343.800.750 C12.050.351.968.934.814|C12.200.777.934.852|C12.950.934.814|C23.888.942.343.800 Incontinence, Urge|Incontinence, Urinary Reflex|Urge Incontinence|Urinary Reflex Incontinence|Urinary Urge Incontinence Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Urinary Retention MESH:D016055 Inability to empty the URINARY BLADDER with voiding (URINATION). MESH:D014555 C12.050.351.968.934.880|C12.200.777.934.880|C12.950.934.880 C12.050.351.968.934|C12.200.777.934|C12.950.934 Retention, Urinary Urogenital disease (female)|Urogenital disease (male) Urinary Tract Infections MESH:D014552 DO:DOID:0080784 Inflammatory responses of the epithelium of the URINARY TRACT to microbial invasions. They are often bacterial infections with associated BACTERIURIA and PYURIA. MESH:D007239|MESH:D014570 C01.915|C12.050.351.968.892|C12.200.777.892|C12.950.892 C01|C12.050.351.968|C12.200.777|C12.950 Infections, Urinary Tract|Infection, Urinary Tract|Tract Infections, Urinary|Tract Infection, Urinary|Urinary Tract Infection Urogenital disease (female)|Urogenital disease (male) Urination Disorders MESH:D014555 Abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE. MESH:D014570 C12.050.351.968.934|C12.200.777.934|C12.950.934 C12.050.351.968|C12.200.777|C12.950 Disorders, Urination|Disorder, Urination|Urination Disorder Urogenital disease (female)|Urogenital disease (male) Urinoma MESH:D053584 An encapsulated accumulation of URINE in the retroperitoneal area. It has the appearance of a cyst (CYSTS). Urinoma is usually caused by URETERAL OBSTRUCTION, renal trauma or perforation of the renal collecting system. MESH:D020924 C23.888.942.900 C23.888.942 Urinomas Signs and symptoms Urioste Martinez-Frias syndrome MESH:C536478 MESH:D000015|MESH:D003456|MESH:D017689|MESH:D019465|MESH:D058490 C05.660.207/C536478|C05.660.585.600/C536478|C12.050.351.875.253.096/C536478|C12.100.500.829.258/C536478|C12.200.294.829.258/C536478|C12.200.706.258/C536478|C12.200.706.316.096/C536478|C12.800.258/C536478|C12.800.316.096/C536478|C16.131.077/C536478|C16.131.621.207/C536478|C16.131.621.585.600/C536478|C16.131.939.258/C536478|C16.131.939.316.096/C536478|C19.391.119.096/C536478|C19.391.829.258/C536478 C05.660.207|C05.660.585.600|C12.050.351.875.253.096|C12.100.500.829.258|C12.200.294.829.258|C12.200.706.258|C12.200.706.316.096|C12.800.258|C12.800.316.096|C16.131.077|C16.131.621.207|C16.131.621.585.600|C16.131.939.258|C16.131.939.316.096|C19.391.119.096|C19.391.829.258 Urioste syndrome Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Urocanase deficiency MESH:C536479 DO:DOID:0112180|OMIM:276880 MESH:D000592 C16.320.565.100/C536479|C18.452.648.100/C536479 C16.320.565.100|C18.452.648.100 UROCD Genetic disease (inborn)|Metabolic disease Urofacial syndrome MESH:C536480 DO:DOID:0050816|OMIM:236730|OMIM:615112 MESH:D014570|MESH:D019066 C12.050.351.968/C536480|C12.200.777/C536480|C12.950/C536480|C23.550.291.812/C536480 C12.050.351.968|C12.200.777|C12.950|C23.550.291.812 Facial Palsy, Partial, With Urinary Abnormalities|Hydronephrosis-Inverted Smile|Hydronephrosis with peculiar facial expression|Inverted smile and occult neuropathic bladder|Inverted Smile-Neurogenic Bladder|Ochoa syndrome|Partial facial palsy with urinary abnormalities|UFS|UFS1|UFS2|Urofacial Ochoa's syndrome|UROFACIAL SYNDROME|UROFACIAL SYNDROME 1|UROFACIAL SYNDROME 2 Pathology (process)|Urogenital disease (female)|Urogenital disease (male) Urogenital Abnormalities MESH:D014564 Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female. MESH:D000013|MESH:D000091642|MESH:D052776|MESH:D052801 C12.050.351.875|C12.200.706|C12.800|C16.131.939 C12|C12.050.351|C12.200|C16.131 Abnormalities, Genitourinary|Abnormalities, Urogenital|Abnormality, Genitourinary|Abnormality, Urogenital|Genitourinary Abnormalities|Genitourinary Abnormality|Urogenital Abnormality Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Urogenital adysplasia MESH:C536481 MESH:D000015 C16.131.077/C536481 C16.131.077 Congenital abnormality Urogenital Diseases MESH:D000091642 Pathological processes of the URINARY TRACT and the reproductive system (GENITALIA). MESH:C C12 C Disease, Genitourinary|Disease, Urogenital|Genitourinary Disease|Genitourinary Diseases|Urogenital Disease Urogenital Neoplasms MESH:D014565 Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female. MESH:D000091642|MESH:D009371|MESH:D052776|MESH:D052801 C04.588.945|C12.050.351.937|C12.200.758|C12.900 C04.588|C12|C12.050.351|C12.200 Cancer, Genito-urinary|Cancer, Genitourinary|Cancers, Genito-urinary|Cancers, Genitourinary|Cancers, Urogenital|Cancer, Urogenital|Genito urinary Cancer|Genito-urinary Cancer|Genitourinary Cancer|Genito-urinary Cancers|Genitourinary Cancers|Genito-urinary Neoplasm|Genitourinary Neoplasm|Genito-urinary Neoplasms|Genitourinary Neoplasms|Neoplasm, Genito-urinary|Neoplasm, Genitourinary|Neoplasms, Genito-urinary|Neoplasms, Genitourinary|Neoplasms, Urogenital|Neoplasm, Urogenital|Urogenital Cancer|Urogenital Cancers|Urogenital Neoplasm Cancer|Urogenital disease (female)|Urogenital disease (male) Urolithiasis MESH:D052878 DO:DOID:0080653 Formation of stones in any part of the URINARY TRACT, usually in the KIDNEY; URINARY BLADDER; or the URETER. MESH:D014570 C12.050.351.968.967|C12.200.777.967|C12.950.967 C12.050.351.968|C12.200.777|C12.950 Lithiasis, Urinary|Urinary Lithiasis Urogenital disease (female)|Urogenital disease (male) Urological Manifestations MESH:D020924 Clinical disturbances of the urinary system. MESH:D012816 C23.888.942 C23.888 Manifestations, Urological|Manifestation, Urological|Urological Manifestation Signs and symptoms Urologic Diseases MESH:D014570 Pathological processes of the URINARY TRACT in both males and females. MESH:D000091642|MESH:D052776|MESH:D052801 C12.050.351.968|C12.200.777|C12.950 C12|C12.050.351|C12.200 Diseases, Urinary Tract|Diseases, Urologic|Diseases, Urological|Disease, Urinary Tract|Disease, Urologic|Disease, Urological|Urinary Tract Disease|Urinary Tract Diseases|Urological Disease|Urological Diseases|Urologic Disease Urogenital disease (female)|Urogenital disease (male) Urologic Neoplasms MESH:D014571 DO:DOID:731 Tumors or cancer of the URINARY TRACT in either the male or the female. MESH:D014565|MESH:D014570 C04.588.945.947|C12.050.351.937.820|C12.200.758.820|C12.900.820|C12.950.983 C04.588.945|C12.050.351.937|C12.200.758|C12.900|C12.950 Cancer of the Urinary Tract|Cancer of Urinary Tract|Cancers, Urinary Tract|Cancers, Urologic|Cancers, Urological|Cancer, Urinary Tract|Cancer, Urologic|Cancer, Urological|Neoplasms, Urinary Tract|Neoplasms, Urologic|Neoplasms, Urological|Neoplasm, Urinary Tract|Neoplasm, Urologic|Neoplasm, Urological|Tract Neoplasms, Urinary|Tract Neoplasm, Urinary|Urinary Tract Cancer|Urinary Tract Cancers|Urinary Tract Neoplasm|Urinary Tract Neoplasms|Urological Cancer|Urological Cancers|Urological Neoplasm|Urological Neoplasms|Urologic Cancer|Urologic Cancers|Urologic Neoplasm Cancer|Urogenital disease (female)|Urogenital disease (male) Uropathy distal obstructive polydactyly MESH:C536483 MESH:D000015 C16.131.077/C536483 C16.131.077 Congenital abnormality Urticaria MESH:D014581 A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress. MESH:D006969|MESH:D017445 C17.800.862.945|C20.543.480.904 C17.800.862|C20.543.480 Hives|Urticarias Immune system disease|Skin disease Urticaria, Familial Localized Heat MESH:C566011 MESH:D000094482 C17.800.862.945.533.500/C566011|C20.543.480.904.533.500/C566011|C23.550.291.500.360.500/C566011 C17.800.862.945.533.500|C20.543.480.904.533.500|C23.550.291.500.360.500 Immune system disease|Pathology (process)|Skin disease Urticaria Pigmentosa MESH:D014582 DO:DOID:12309 The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules. MESH:D010859|MESH:D034701 C04.557.450.565.465.500.850|C04.588.805.309.850|C17.800.621.893|C17.800.882.356.850|C20.762.750.563.850 C04.557.450.565.465.500|C04.588.805.309|C17.800.621|C17.800.882.356|C20.762.750.563 Cutaneous Mastocytoses, Maculopapular|Cutaneous Mastocytosis, Maculopapular|Maculopapular Cutaneous Mastocytoses|Maculopapular Cutaneous Mastocytosis Cancer|Immune system disease|Skin disease Urticaria, Solar MESH:D000092130 Chromophore-dependent photodermatosis triggered by UV and visible light. MESH:D000094482|MESH:D010787 C17.800.600.825|C17.800.862.945.533.500.750|C20.543.480.904.533.500.750|C23.550.291.500.360.500.750 C17.800.600|C17.800.862.945.533.500|C20.543.480.904.533.500|C23.550.291.500.360.500 Solar Urticaria Immune system disease|Pathology (process)|Skin disease Uruguay Faciocardiomusculoskeletal Syndrome MESH:C564544 DO:DOID:0112148 MESH:D000015|MESH:D009135|MESH:D009202|MESH:D019066 C05.651/C564544|C10.668.491/C564544|C14.280.238/C564544|C16.131.077/C564544|C23.550.291.812/C564544 C05.651|C10.668.491|C14.280.238|C16.131.077|C23.550.291.812 Faciocardiomusculoskeletal Syndrome, Uruguay Type Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process) Usher Syndromes MESH:D052245 DO:DOID:0050439|DO:DOID:0110827|DO:DOID:0110828|DO:DOID:0110829|OMIM:500004 Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable. MESH:D006319|MESH:D012174|MESH:D054062 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 C09.218.458.341.186.500|C09.218.458.341.887|C10.597.751.418.341.186.500|C10.597.751.418.341.887|C10.597.751.941.162.625|C11.768.585.658.500|C11.966.075.375|C16.131.077.299|C16.320.290.684|C23.888.592.763.393.341.887 Deafness Retinitis Pigmentosa Syndrome|Deafness-Retinitis Pigmentosa Syndrome|Deafness-Retinitis Pigmentosa Syndromes|Dystrophia Retinae Pigmentosa Dysostosis Syndrome|Dystrophia Retinae Pigmentosa-Dysostosis Syndrome|Graefe Usher Syndrome|Graefe-Usher Syndrome|Hallgren Syndrome|Pigmentosa Syndromes, Deafness-Retinitis|RETINITIS PIGMENTOSA 21, FORMERLY|RETINITIS PIGMENTOSA 8, FORMERLY|Retinitis Pigmentosa And Congenital Deafness|Retinitis Pigmentosa Deafness Syndrome|Retinitis Pigmentosa-Deafness Syndrome|Retinitis Pigmentosa-Deafness Syndromes|RP21, FORMERLY|RP8, FORMERLY|Syndrome, Deafness-Retinitis Pigmentosa|Syndrome, Graefe-Usher|Syndrome, Hallgren|Syndrome, Retinitis Pigmentosa-Deafness|Syndromes, Deafness-Retinitis Pigmentosa|Syndromes, Retinitis Pigmentosa-Deafness|Syndromes, Usher|Syndrome, Usher|Syndrome, Usher's|Usher's Syndrome|Ushers Syndrome|Usher Syndrome|Usher Syndrome, Type 1|Usher Syndrome, Type 1A|Usher Syndrome, Type 3|Usher Syndrome, Type I|Usher Syndrome, Type I, French Variety|Usher Syndrome, Type II|Usher Syndrome, Type IId|Usher Syndrome, Type III Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher syndrome, type 1B MESH:C536485 OMIM:276900 MESH:D052245 C09.218.458.341.186.500.500/C536485|C09.218.458.341.887.886/C536485|C10.597.751.418.341.186.500.500/C536485|C10.597.751.418.341.887.886/C536485|C10.597.751.941.162.625.500/C536485|C11.768.585.658.500.813/C536485|C11.966.075.375.500/C536485|C16.131.077.299.500/C536485|C16.320.290.684.500/C536485|C23.888.592.763.393.341.887.886/C536485 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS USHER SYNDROME, TYPE IB, INCLUDED|US1|USH1|USH1B, INCLUDED|USHER SYNDROME, TYPE I|USHER SYNDROME, TYPE IA, FORMERLY, INCLUDED;USH1A, FORMERLY, INCLUDED|USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY, INCLUDED Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher syndrome, type 1C MESH:C536486 OMIM:276904 MESH:D052245 C09.218.458.341.186.500.500/C536486|C09.218.458.341.887.886/C536486|C10.597.751.418.341.186.500.500/C536486|C10.597.751.418.341.887.886/C536486|C10.597.751.941.162.625.500/C536486|C11.768.585.658.500.813/C536486|C11.966.075.375.500/C536486|C16.131.077.299.500/C536486|C16.320.290.684.500/C536486|C23.888.592.763.393.341.887.886/C536486 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH1C|Usher syndrome, Acadian variety|USHER SYNDROME, TYPE I, ACADIAN VARIETY|USHER SYNDROME, TYPE IC Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher syndrome, type 1D MESH:C536487 OMIM:601067 MESH:D052245 C09.218.458.341.186.500.500/C536487|C09.218.458.341.887.886/C536487|C10.597.751.418.341.186.500.500/C536487|C10.597.751.418.341.887.886/C536487|C10.597.751.941.162.625.500/C536487|C11.768.585.658.500.813/C536487|C11.966.075.375.500/C536487|C16.131.077.299.500/C536487|C16.320.290.684.500/C536487|C23.888.592.763.393.341.887.886/C536487 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH1D|USH1D/F, CDH23/PCDH15, DIGENIC, INCLUDED|USHER SYNDROME, TYPE ID|USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC, INCLUDED Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher syndrome, type 1E MESH:C536488 OMIM:602097 MESH:D052245 C09.218.458.341.186.500.500/C536488|C09.218.458.341.887.886/C536488|C10.597.751.418.341.186.500.500/C536488|C10.597.751.418.341.887.886/C536488|C10.597.751.941.162.625.500/C536488|C11.768.585.658.500.813/C536488|C11.966.075.375.500/C536488|C16.131.077.299.500/C536488|C16.320.290.684.500/C536488|C23.888.592.763.393.341.887.886/C536488 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH1E|USHER SYNDROME, TYPE IE Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher syndrome, type 1F MESH:C536489 OMIM:602083 MESH:D052245 C09.218.458.341.186.500.500/C536489|C09.218.458.341.887.886/C536489|C10.597.751.418.341.186.500.500/C536489|C10.597.751.418.341.887.886/C536489|C10.597.751.941.162.625.500/C536489|C11.768.585.658.500.813/C536489|C11.966.075.375.500/C536489|C16.131.077.299.500/C536489|C16.320.290.684.500/C536489|C23.888.592.763.393.341.887.886/C536489 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH1F|USHER SYNDROME, TYPE IF Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher syndrome, type 2A MESH:C536490 OMIM:276901 MESH:D052245 C09.218.458.341.186.500.500/C536490|C09.218.458.341.887.886/C536490|C10.597.751.418.341.186.500.500/C536490|C10.597.751.418.341.887.886/C536490|C10.597.751.941.162.625.500/C536490|C11.768.585.658.500.813/C536490|C11.966.075.375.500/C536490|C16.131.077.299.500/C536490|C16.320.290.684.500/C536490|C23.888.592.763.393.341.887.886/C536490 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH2A|USH2A Usher syndrome 2a|Usher Syndrome, Type IIA Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher syndrome, type 2B MESH:C536491 MESH:D052245 C09.218.458.341.186.500.500/C536491|C09.218.458.341.887.886/C536491|C10.597.751.418.341.186.500.500/C536491|C10.597.751.418.341.887.886/C536491|C10.597.751.941.162.625.500/C536491|C11.768.585.658.500.813/C536491|C11.966.075.375.500/C536491|C16.131.077.299.500/C536491|C16.320.290.684.500/C536491|C23.888.592.763.393.341.887.886/C536491 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher syndrome, type 2C MESH:C536492 OMIM:605472 MESH:D052245 C09.218.458.341.186.500.500/C536492|C09.218.458.341.887.886/C536492|C10.597.751.418.341.186.500.500/C536492|C10.597.751.418.341.887.886/C536492|C10.597.751.941.162.625.500/C536492|C11.768.585.658.500.813/C536492|C11.966.075.375.500/C536492|C16.131.077.299.500/C536492|C16.320.290.684.500/C536492|C23.888.592.763.393.341.887.886/C536492 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH2C|USHER SYNDROME, TYPE IIB, FORMERLY, INCLUDED;USH2B, FORMERLY, INCLUDED|Usher Syndrome, Type IIC|USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher Syndrome, Type Ib MESH:C564755 MESH:D052245 C09.218.458.341.186.500.500/C564755|C09.218.458.341.887.886/C564755|C10.597.751.418.341.186.500.500/C564755|C10.597.751.418.341.887.886/C564755|C10.597.751.941.162.625.500/C564755|C11.768.585.658.500.813/C564755|C11.966.075.375.500/C564755|C16.131.077.299.500/C564755|C16.320.290.684.500/C564755|C23.888.592.763.393.341.887.886/C564755 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher Syndrome, Type IC MESH:C564753 MESH:D052245 C09.218.458.341.186.500.500/C564753|C09.218.458.341.887.886/C564753|C10.597.751.418.341.186.500.500/C564753|C10.597.751.418.341.887.886/C564753|C10.597.751.941.162.625.500/C564753|C11.768.585.658.500.813/C564753|C11.966.075.375.500/C564753|C16.131.077.299.500/C564753|C16.320.290.684.500/C564753|C23.888.592.763.393.341.887.886/C564753 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 Usher Syndrome, Type I, Acadian Variety Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher Syndrome, Type ID MESH:C563400 MESH:D052245 C09.218.458.341.186.500.500/C563400|C09.218.458.341.887.886/C563400|C10.597.751.418.341.186.500.500/C563400|C10.597.751.418.341.887.886/C563400|C10.597.751.941.162.625.500/C563400|C11.768.585.658.500.813/C563400|C11.966.075.375.500/C563400|C16.131.077.299.500/C563400|C16.320.290.684.500/C563400|C23.888.592.763.393.341.887.886/C563400 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher Syndrome, Type ID-F MESH:C567409 MESH:D052245 C09.218.458.341.186.500.500/C567409|C09.218.458.341.887.886/C567409|C10.597.751.418.341.186.500.500/C567409|C10.597.751.418.341.887.886/C567409|C10.597.751.941.162.625.500/C567409|C11.768.585.658.500.813/C567409|C11.966.075.375.500/C567409|C16.131.077.299.500/C567409|C16.320.290.684.500/C567409|C23.888.592.763.393.341.887.886/C567409 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher Syndrome, Type IE MESH:C566577 MESH:D052245 C09.218.458.341.186.500.500/C566577|C09.218.458.341.887.886/C566577|C10.597.751.418.341.186.500.500/C566577|C10.597.751.418.341.887.886/C566577|C10.597.751.941.162.625.500/C566577|C11.768.585.658.500.813/C566577|C11.966.075.375.500/C566577|C16.131.077.299.500/C566577|C16.320.290.684.500/C566577|C23.888.592.763.393.341.887.886/C566577 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher Syndrome, Type IF MESH:C566586 MESH:D052245 C09.218.458.341.186.500.500/C566586|C09.218.458.341.887.886/C566586|C10.597.751.418.341.186.500.500/C566586|C10.597.751.418.341.887.886/C566586|C10.597.751.941.162.625.500/C566586|C11.768.585.658.500.813/C566586|C11.966.075.375.500/C566586|C16.131.077.299.500/C566586|C16.320.290.684.500/C566586|C23.888.592.763.393.341.887.886/C566586 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher Syndrome, Type IG MESH:C564643 OMIM:606943 MESH:D052245 C09.218.458.341.186.500.500/C564643|C09.218.458.341.887.886/C564643|C10.597.751.418.341.186.500.500/C564643|C10.597.751.418.341.887.886/C564643|C10.597.751.941.162.625.500/C564643|C11.768.585.658.500.813/C564643|C11.966.075.375.500/C564643|C16.131.077.299.500/C564643|C16.320.290.684.500/C564643|C23.888.592.763.393.341.887.886/C564643 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH1G Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Usher Syndrome, Type IH MESH:C567227 OMIM:612632 MESH:D052245 C09.218.458.341.186.500.500/C567227|C09.218.458.341.887.886/C567227|C10.597.751.418.341.186.500.500/C567227|C10.597.751.418.341.887.886/C567227|C10.597.751.941.162.625.500/C567227|C11.768.585.658.500.813/C567227|C11.966.075.375.500/C567227|C16.131.077.299.500/C567227|C16.320.290.684.500/C567227|C23.888.592.763.393.341.887.886/C567227 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH1H Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms USHER SYNDROME, TYPE IID OMIM:611383 DO:DOID:0110840 MESH:D052245 C09.218.458.341.186.500.500/611383|C09.218.458.341.887.886/611383|C10.597.751.418.341.186.500.500/611383|C10.597.751.418.341.887.886/611383|C10.597.751.941.162.625.500/611383|C11.768.585.658.500.813/611383|C11.966.075.375.500/611383|C16.131.077.299.500/611383|C16.320.290.684.500/611383|C23.888.592.763.393.341.887.886/611383 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH2D Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms USHER SYNDROME, TYPE IIIA OMIM:276902 DO:DOID:0110841 MESH:D052245 C09.218.458.341.186.500.500/276902|C09.218.458.341.887.886/276902|C10.597.751.418.341.186.500.500/276902|C10.597.751.418.341.887.886/276902|C10.597.751.941.162.625.500/276902|C11.768.585.658.500.813/276902|C11.966.075.375.500/276902|C16.131.077.299.500/276902|C16.320.290.684.500/276902|C23.888.592.763.393.341.887.886/276902 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH3|USH3A|USHER SYNDROME, TYPE III Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms USHER SYNDROME, TYPE IIIB OMIM:614504 DO:DOID:0110842 MESH:D052245 C09.218.458.341.186.500.500/614504|C09.218.458.341.887.886/614504|C10.597.751.418.341.186.500.500/614504|C10.597.751.418.341.887.886/614504|C10.597.751.941.162.625.500/614504|C11.768.585.658.500.813/614504|C11.966.075.375.500/614504|C16.131.077.299.500/614504|C16.320.290.684.500/614504|C23.888.592.763.393.341.887.886/614504 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH3B Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms USHER SYNDROME, TYPE IJ OMIM:614869 DO:DOID:0110836 MESH:D052245 C09.218.458.341.186.500.500/614869|C09.218.458.341.887.886/614869|C10.597.751.418.341.186.500.500/614869|C10.597.751.418.341.887.886/614869|C10.597.751.941.162.625.500/614869|C11.768.585.658.500.813/614869|C11.966.075.375.500/614869|C16.131.077.299.500/614869|C16.320.290.684.500/614869|C23.888.592.763.393.341.887.886/614869 C09.218.458.341.186.500.500|C09.218.458.341.887.886|C10.597.751.418.341.186.500.500|C10.597.751.418.341.887.886|C10.597.751.941.162.625.500|C11.768.585.658.500.813|C11.966.075.375.500|C16.131.077.299.500|C16.320.290.684.500|C23.888.592.763.393.341.887.886 USH1J Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms Uterine Anomalies MESH:C562565 MESH:D014564 C12.050.351.875/C562565|C12.200.706/C562565|C12.800/C562565|C16.131.939/C562565 C12.050.351.875|C12.200.706|C12.800|C16.131.939 Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Uterine Cervical Diseases MESH:D002577 DO:DOID:2253 Pathological processes of the UTERINE CERVIX. MESH:D014591 C12.050.351.500.852.593|C12.100.250.852.593 C12.050.351.500.852|C12.100.250.852 Cervical Diseases, Uterine|Cervical Disease, Uterine|Cervix Disease|Cervix Diseases|Disease, Cervix|Diseases, Cervix|Diseases, Uterine Cervical|Disease, Uterine Cervical|Uterine Cervical Disease Urogenital disease (female) Uterine Cervical Dysplasia MESH:D002578 DO:DOID:8991 Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE. MESH:D002577|MESH:D011230 C04.834.818|C12.050.351.500.852.593.074|C12.100.250.852.593.074 C04.834|C12.050.351.500.852.593|C12.100.250.852.593 Cervical Dysplasia|Cervical Dysplasias|Cervical Dysplasia, Uterine|Cervical Intraepithelial Neoplasia|Cervical Intraepithelial Neoplasia, Grade III|Cervical Intraepithelial Neoplasm|Cervical Intraepithelial Neoplasms|Cervix Dysplasia|Cervix Uteri Dysplasia|Cervix Uteri Dysplasias|Dysplasia, Cervical|Dysplasia, Cervix|Dysplasia of Cervix Uteri|Dysplasia, Uterine Cervical|Intraepithelial Neoplasia, Cervical|Intraepithelial Neoplasm, Cervical|Intraepithelial Neoplasms, Cervical|Neoplasia, Cervical Intraepithelial|Neoplasm, Cervical Intraepithelial|Neoplasms, Cervical Intraepithelial Cancer|Urogenital disease (female) Uterine Cervical Erosion MESH:D002579 DO:DOID:3456 Loss or destruction of the epithelial lining of the UTERINE CERVIX. MESH:D002577 C12.050.351.500.852.593.112|C12.100.250.852.593.112 C12.050.351.500.852.593|C12.100.250.852.593 Cervical Erosion, Uterine|Cervix Erosion|Cervix Erosion, Uterine|Erosion, Cervix|Erosion, Uterine Cervical|Erosion, Uterine Cervix|Uterine Cervix Erosion Urogenital disease (female) Uterine Cervical Incompetence MESH:D002581 DO:DOID:9681 Incompetent UTERINE CERVIX is usually diagnosed in the second trimester of PREGNANCY. It is characterized by passive painless cervical dilation in the absence of UTERINE CONTRACTION; BLEEDING; INFECTION; and sometimes with the amniotic sac (AMNIOTIC MEMBRANE) bulging through the partially dilated cervix. Left untreated, this condition may lead to premature pregnancy loss, such as HABITUAL ABORTION. MESH:D000026|MESH:D002577 C12.050.351.500.852.593.120|C12.050.703.039.089.339|C12.100.250.852.593.120 C12.050.351.500.852.593|C12.050.703.039.089|C12.100.250.852.593 Cervical Incompetence, Uterine|Cervices, Incompetent|Cervix Incompetence|Cervix, Incompetent|Incompetence, Cervix|Incompetence, Uterine Cervical|Incompetent Cervices|Incompetent Cervix Pregnancy complication|Urogenital disease (female) Uterine Cervical Neoplasms MESH:D002583 DO:DOID:4362|OMIM:603956 Tumors or cancer of the UTERINE CERVIX. MESH:D002577|MESH:D014594 C04.588.945.418.948.850|C12.050.351.500.852.593.131|C12.050.351.500.852.762.850|C12.050.351.937.418.875.850|C12.100.250.852.593.131|C12.100.250.852.762.850|C12.900.418.875.850 C04.588.945.418.948|C12.050.351.500.852.593|C12.050.351.500.852.762|C12.050.351.937.418.875|C12.100.250.852.593|C12.100.250.852.762|C12.900.418.875 Cancer, Cervical|Cancer, Cervix|Cancer of Cervix|Cancer of the Cervix|Cancer of the Uterine Cervix|Cancer, Uterine Cervical|Cervical Cancer|Cervical Cancers|Cervical Cancer, Uterine|Cervical Neoplasm|Cervical Neoplasms|Cervical Neoplasm, Uterine|Cervix Cancer|Cervix Neoplasm|Cervix Neoplasms|Neoplasm, Cervix|Neoplasms, Cervical|Neoplasms, Cervix|Neoplasm, Uterine Cervical|Uterine Cervical Cancer|Uterine Cervical Cancers|Uterine Cervical Neoplasm Cancer|Urogenital disease (female) Uterine Cervicitis MESH:D002575 DO:DOID:2568 Inflammation of the UTERINE CERVIX. MESH:D002577 C12.050.351.500.852.593.150|C12.100.250.852.593.150 C12.050.351.500.852.593|C12.100.250.852.593 Cervicitides|Cervicitides, Uterine|Cervicitis|Cervicitis, Uterine|Uterine Cervicitides Urogenital disease (female) Uterine Didelphys MESH:D000093642 An abnormality in which the MULLARIAN DUCTS do not properly join to form a single uterus during embryological development instead resulting in complete duplication of uterine horns and duplication of the cervix. Double uterus is associated with double cervix and vagina and sometimes renal agenesis. MESH:D000093662 C12.050.351.500.852.667.500 C12.050.351.500.852.667 Didelphic Uteri|Didelphic Uterus|Double Uterus with Imperforated Vagina|Uterus, Didelphic|Uterus Didelphys with Imperforated Vagina|Uterus Didelphys with Imperforate Vagina Urogenital disease (female) Uterine Diseases MESH:D014591 DO:DOID:345 Pathological processes involving any part of the UTERUS. MESH:D005831 C12.050.351.500.852|C12.100.250.852 C12.050.351.500|C12.100.250 Disease, Endometrial|Diseases, Endometrial|Diseases, Uterine|Disease, Uterine|Endometrial Disease|Endometrial Diseases|Uterine Disease Urogenital disease (female) Uterine Duplication Anomalies MESH:D000093662 A group of anomalies in which the UTERUS is duplicated due to abnormal fusion of the MULLERIAN DUCT during embryonic development. MESH:D014564|MESH:D014591 C12.050.351.500.852.667|C12.050.351.875.940|C12.200.706.940|C12.800.940|C16.131.939.957 C12.050.351.500.852|C12.050.351.875|C12.200.706|C12.800|C16.131.939 Anomaly, Uterine Duplication|Double Uterus|Double Womb|Double Wombs|Duplication Anomaly, Uterine|Uterine Duplication Anomaly|Uterus, Double|Womb, Double Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) Uterine Hemorrhage MESH:D014592 Bleeding from blood vessels in the UTERUS, sometimes manifested as vaginal bleeding. MESH:D006470|MESH:D014591 C12.050.351.500.852.691|C12.100.250.852.691|C23.550.414.993 C12.050.351.500.852|C12.100.250.852|C23.550.414 Bleedings, Vaginal|Bleeding, Uterine|Bleeding, Vaginal|Hemorrhage, Uterine|Uterine Bleeding|Uterine Bleedings|Uterine Hemorrhages|Vaginal Bleeding|Vaginal Bleedings Pathology (process)|Urogenital disease (female) Uterine Inertia MESH:D014593 Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony. MESH:D004420 C12.050.703.420.288.728 C12.050.703.420.288 Atony, Uterine|Inertia, Uterine|Uterine Atony Pregnancy complication Uterine Inversion MESH:D019687 DO:DOID:997 A complication of OBSTETRIC LABOR in which the corpus of the UTERUS is forced completely or partially through the UTERINE CERVIX. This can occur during the late stages of labor and is associated with IMMEDIATE POSTPARTUM HEMORRHAGE. MESH:D007744|MESH:D014591 C12.050.351.500.852.726|C12.050.703.420.814|C12.100.250.852.726 C12.050.351.500.852|C12.050.703.420|C12.100.250.852 Inversion of Uterus|Inversion, Uterine|Uterus Inversion Pregnancy complication|Urogenital disease (female) Uterine Neoplasms MESH:D014594 DO:DOID:363 Tumors or cancer of the UTERUS. MESH:D005833|MESH:D014591 C04.588.945.418.948|C12.050.351.500.852.762|C12.050.351.937.418.875|C12.100.250.852.762|C12.900.418.875 C04.588.945.418|C12.050.351.500.852|C12.050.351.937.418|C12.100.250.852|C12.900.418 Cancer of the Uterus|Cancer of Uterus|Cancers, Uterine|Cancers, Uterus|Cancer, Uterine|Cancer, Uterus|Neoplasms, Uterine|Neoplasms, Uterus|Neoplasm, Uterine|Neoplasm, Uterus|Uterine Cancer|Uterine Cancers|Uterine Neoplasm|Uterus Cancer|Uterus Cancers|Uterus Neoplasm|Uterus Neoplasms Cancer|Urogenital disease (female) Uterine Perforation MESH:D014595 A hole or break through the wall of the UTERUS, usually made by the placement of an instrument or INTRAUTERINE DEVICES. MESH:D014597 C12.050.351.500.852.904.500|C12.100.250.852.904.500|C26.761.853.500 C12.050.351.500.852.904|C12.100.250.852.904|C26.761.853 Perforations, Uterine|Perforation, Uterine|Uterine Perforations Urogenital disease (female)|Wounds and injuries Uterine Prolapse MESH:D014596 Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice. MESH:D014591|MESH:D056887 C12.050.351.500.852.833|C12.100.250.852.833|C23.300.842.624.750 C12.050.351.500.852|C12.100.250.852|C23.300.842.624 Prolapses, Uterine|Prolapses, Vaginal|Prolapse, Uterine|Prolapse, Vaginal|Uterine Prolapses|Vaginal Prolapse|Vaginal Prolapses Pathology (anatomical condition)|Urogenital disease (female) Uterine Retroversion MESH:D060725 A condition in which the UTERUS is found tilted backward toward the spine. The uterus is more commonly found in a straight vertical or anteverted (tipped forward) position. Although retroverted uterus is a normal variant position without symptoms, it is sometimes associated with pain, discomfort and other pregnancy complications. MESH:D014102|MESH:D014591 C12.050.351.500.852.900|C12.100.250.852.900|C23.300.970.750 C12.050.351.500.852|C12.100.250.852|C23.300.970 Gravid Uterus, Retroverted|Incarcerated Retroverted Uterus|Retroflexed Uterus|Retroflexions, Uterine|Retroflexion, Uterine|Retroversions, Uterine|Retroversion, Uterine|Retroverted Gravid Uterus|Retroverted Uterus|Retroverted Uterus, Incarcerated|Tipped Uterus|Uterine Retroflexion|Uterine Retroflexions|Uterine Retroversions|Uterus, Incarcerated Retroverted|Uterus, Retroflexed|Uterus, Retroverted|Uterus, Retroverted Gravid|Uterus, Tipped Pathology (anatomical condition)|Urogenital disease (female) Uterine Rupture MESH:D014597 A complete separation or tear in the wall of the UTERUS with or without expulsion of the FETUS. It may be due to injuries, multiple pregnancies, large fetus, previous scarring, or obstruction. MESH:D007744|MESH:D012421|MESH:D014591 C12.050.351.500.852.904|C12.050.703.420.904|C12.100.250.852.904|C26.761.853 C12.050.351.500.852|C12.050.703.420|C12.100.250.852|C26.761 Ruptures, Uterine|Rupture, Uterine|Uterine Ruptures Pregnancy complication|Urogenital disease (female)|Wounds and injuries uteropelvic junction obstruction MESH:C000729016 MESH:D014517 C12.050.351.968.725.776/C000729016|C12.200.777.725.776/C000729016|C12.950.725.776/C000729016 C12.050.351.968.725.776|C12.200.777.725.776|C12.950.725.776 Urogenital disease (female)|Urogenital disease (male) Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis MESH:C566010 MESH:D006399 C12.050.351.500.894.300/C566010|C12.100.250.894.300/C566010 C12.050.351.500.894.300|C12.100.250.894.300 Urogenital disease (female) Uveal Diseases MESH:D014603 DO:DOID:3480 Diseases of the uvea. MESH:D005128 C11.941 C11 Diseases, Uveal|Disease, Uveal|Uveal Disease Eye disease Uveal Effusion Syndrome MESH:D000080323 Rare disease characterized by suprachoroidal fluid accumulation between the CHOROID and the SCLERA, annular detachment of the CHOROID, often with secondary RETINAL DETACHMENT; OPTIC DISK EDEMA, and minimal signs of UVEITIS and INTRAOCULAR PRESSURE changes. MESH:D000080324 C11.250.105.500|C11.941.160.241.500 C11.250.105|C11.941.160.241 Uveal Effusion Syndromes Eye disease Uveal melanoma MESH:C536494 DO:DOID:6039|OMIM:155720|OMIM:606660|OMIM:606661 MESH:D008545|MESH:D014604 C04.557.465.625.650.510/C536494|C04.557.580.625.650.510/C536494|C04.557.665.510/C536494|C04.588.364.978/C536494|C11.319.494/C536494|C11.941.855/C536494 C04.557.465.625.650.510|C04.557.580.625.650.510|C04.557.665.510|C04.588.364.978|C11.319.494|C11.941.855 Melanoma of the Uvea|Melanoma, Uveal|MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1|MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2|UVM1|UVM2 Cancer|Eye disease Uveal Neoplasms MESH:D014604 Tumors or cancer of the UVEA. MESH:D005134|MESH:D014603 C04.588.364.978|C11.319.494|C11.941.855 C04.588.364|C11.319|C11.941 Neoplasms, Uveal|Neoplasm, Uveal|Uveal Neoplasm Cancer|Eye disease Uveitis MESH:D014605 DO:DOID:13141 Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, and commonly involving the other tunics (sclera and cornea, and the retina). (Dorland, 27th ed) MESH:D014603 C11.941.879 C11.941 Uveitides Eye disease Uveitis, Anterior MESH:D014606 DO:DOID:1407 Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced. MESH:D015864 C11.941.879.780.880 C11.941.879.780 Anterior Uveitides|Anterior Uveitis|Uveitides, Anterior Eye disease Uveitis, Intermediate MESH:D015867 DO:DOID:12732 Inflammation of the pars plana, ciliary body, and adjacent structures. MESH:D014605 C11.941.879.900 C11.941.879 Chronic Cyclitis|Cyclitis, Chronic|Intermediate Uveitis Eye disease Uveitis, Posterior MESH:D015866 DO:DOID:12574 Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. MESH:D015864 C11.941.879.780.900 C11.941.879.780 Posterior Uveitis Eye disease Uveitis, Suppurative MESH:D015829 DO:DOID:13140 Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia. MESH:D009877|MESH:D013492|MESH:D014605|MESH:D015818|MESH:D015821 C01.150.252.289.900|C01.150.703.320.900|C01.375.265.500|C01.375.354.900|C01.375.450.900|C01.830.900|C11.294.265.500|C11.294.354.900|C11.294.450.900|C11.941.879.960 C01.150.252.289|C01.150.703.320|C01.375.265|C01.375.354|C01.375.450|C01.830|C11.294.265|C11.294.354|C11.294.450|C11.941.879 Suppurative Uveitides|Suppurative Uveitis|Uveitides, Suppurative Bacterial infection or mycosis|Eye disease Uveomeningoencephalitic Syndrome MESH:D014607 DO:DOID:12297 A syndrome characterized by bilateral granulomatous UVEITIS with IRITIS and secondary GLAUCOMA, premature ALOPECIA, symmetrical VITILIGO, poliosis circumscripta (a strand of depigmented hair), HEARING DISORDERS, and meningeal signs (neck stiffness and headache). Examination of the cerebrospinal fluid reveals a pattern consistent with MENINGITIS, ASEPTIC. (Adams et al., Principles of Neurology, 6th ed, p748; Surv Ophthalmol 1995 Jan;39(4):265-292) MESH:D014605|MESH:D020274 C10.114.843|C11.941.879.980|C20.111.258.925 C10.114|C11.941.879|C20.111.258 Disease, Vogt-Koyanagi-Harada|Syndrome, Uveomeningoencephalitic|Syndrome, VKH|Syndrome, VKH (Vogt Koyanagi Harada)|Syndrome, Vogt Koyanagi Harada|Syndrome, Vogt-Koyanagi-Harada|Uveomeningoencephalitides|Uveomeningoencephalitis|VKH Syndrome|VKH Syndrome (Vogt Koyanagi Harada)|VKH (Vogt Koyanagi Harada) Syndrome|Vogt Koyanagi Harada Disease|Vogt-Koyanagi-Harada Disease|Vogt Koyanagi Harada Syndrome|Vogt-Koyanagi-Harada Syndrome Eye disease|Immune system disease|Nervous system disease Uveoparotid Fever MESH:D014608 DO:DOID:13404 A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea. MESH:D012507 C15.604.515.827.865|C20.543.418.575.865 C15.604.515.827|C20.543.418.575 Fevers, Uveoparotid|Fever, Uveoparotid|Heerfordt Syndrome|Syndrome, Heerfordt|Uveoparotid Fevers|Uveoparotitides|Uveoparotitis Immune system disease|Lymphatic disease UV-Sensitive Syndrome MESH:C563466 DO:DOID:0060240|OMIM:600630|OMIM:614621|OMIM:614640 MESH:D010787 C17.800.600/C563466 C17.800.600 UV-SENSITIVE SYNDROME 1|UV-SENSITIVE SYNDROME 2|UV-SENSITIVE SYNDROME 3|UVSS1|UVSS2|UVSS3 Skin disease Vaccine-Preventable Diseases MESH:D000079263 Diseases for which vaccines exist that can confer partial or complete protection. (World Health Organization vaccine-safety-training.org) MESH:D007239 C01.918 C01 Diseases, Vaccine Preventable|Diseases, Vaccine-Preventable|Disease, Vaccine-Preventable|Preventable Diseases, Vaccine|Preventable Disease, Vaccine|Vaccine Preventable Disease|Vaccine-Preventable Disease|Vaccine Preventable Diseases Vaccinia MESH:D014615 DO:DOID:3298 The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine. MESH:D011213 C01.925.256.743.929 C01.925.256.743 Vaccinias Viral disease VACTERL association MESH:C536495 MESH:D006330|MESH:D017880 C05.660.585/C536495|C14.240.400/C536495|C14.280.400/C536495|C16.131.240.400/C536495|C16.131.621.585/C536495 C05.660.585|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.585 VACTEL Association|VACTERL Syndrome|Vertebral Anal Tracheoesophageal Esophageal Radial anomalies Cardiovascular disease|Congenital abnormality|Musculoskeletal disease VACTERL Association With Hydrocephalus MESH:C564751 OMIM:276950|OMIM:314390 MESH:D004065|MESH:D006849|MESH:D009139|MESH:D018376|MESH:D040181 C05.660/C564751|C06.198/C564751|C10.228.140.602/C564751|C14.240/C564751|C16.131.240/C564751|C16.131.314/C564751|C16.131.621/C564751|C16.320.322/C564751 C05.660|C06.198|C10.228.140.602|C14.240|C16.131.240|C16.131.314|C16.131.621|C16.320.322 VACTERL Association With Hydrocephalus, X-Linked|VACTERL association with hydrocephaly|VACTERL association with hydrocephaly, X-linked|VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS|VACTERL-H|VACTERL-H VATER ASSOCIATION WITH HYDROCEPHALUS, INCLUDED|VACTERL-H, X-Linked|VACTERL hydrocephaly|VACTERLX|VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INCLUDED|X-linked VACTERL-H syndrome Cardiovascular disease|Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Vacuolar myopathy MESH:C536522 MESH:D009135|MESH:D016464 C05.651/C536522|C10.668.491/C536522|C16.320.565.595/C536522|C18.452.648.595/C536522 C05.651|C10.668.491|C16.320.565.595|C18.452.648.595 Autophagic vacuolar myopathy|Myopathy, Autophagic Vacuolar, Infantile-Onset Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease Vacuolar Neuromyopathy MESH:C566617 OMIM:601846 MESH:D009136 C05.651.534.500/C566617|C10.668.491.175.500/C566617|C16.320.577/C566617 C05.651.534.500|C10.668.491.175.500|C16.320.577 MRUPAV|Muscular Dystrophy, Autosomal Dominant, With Rimmed Vacuoles|MYOPATHY WITH RIMMED UBIQUITIN-POSITIVE AUTOPHAGIC VACUOLATION, AUTOSOMAL DOMINANT|VACUOLAR NEUROMYOPATHY Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Vagina, absence of MESH:C536523 MESH:D000013 C16.131/C536523 C16.131 Absence of vagina|Vaginal agenesis Congenital abnormality Vaginal Discharge MESH:D019522 DO:DOID:3767 A common gynecologic disorder characterized by an abnormal, nonbloody discharge from the genital tract. MESH:D014623 C12.050.351.500.894.700|C12.100.250.894.700 C12.050.351.500.894|C12.100.250.894 Discharges, Vaginal|Discharge, Vaginal|Vaginal Discharges Urogenital disease (female) Vaginal Diseases MESH:D014623 DO:DOID:121 Pathological processes of the VAGINA. MESH:D005831 C12.050.351.500.894|C12.100.250.894 C12.050.351.500|C12.100.250 Diseases, Vaginal|Disease, Vaginal|Vaginal Disease Urogenital disease (female) Vaginal Fistula MESH:D014624 An abnormal anatomical passage that connects the VAGINA to other organs, such as the bladder (VESICOVAGINAL FISTULA) or the rectum (RECTOVAGINAL FISTULA). MESH:D005402|MESH:D014623 C12.050.351.500.894.767|C12.100.250.894.767|C23.300.575.925 C12.050.351.500.894|C12.100.250.894|C23.300.575 Fistulas, Vaginal|Fistula, Vaginal|Vaginal Fistulas Pathology (anatomical condition)|Urogenital disease (female) Vaginal Neoplasms MESH:D014625 DO:DOID:119 Tumors or cancer of the VAGINA. MESH:D005833|MESH:D014623 C04.588.945.418.955|C12.050.351.500.894.834|C12.050.351.937.418.937|C12.100.250.894.834|C12.900.418.937 C04.588.945.418|C12.050.351.500.894|C12.050.351.937.418|C12.100.250.894|C12.900.418 Cancer of the Vagina|Cancer of Vagina|Cancers, Vagina|Cancers, Vaginal|Cancer, Vagina|Cancer, Vaginal|Neoplasms, Vagina|Neoplasms, Vaginal|Neoplasm, Vagina|Neoplasm, Vaginal|Vagina Cancer|Vagina Cancers|Vaginal Cancer|Vaginal Cancers|Vaginal Neoplasm|Vagina Neoplasm|Vagina Neoplasms Cancer|Urogenital disease (female) Vaginismus MESH:D052065 Recurrent or persistent involuntary SPASM of the outer muscles of the VAGINA, occurring during vaginal penetration. MESH:D005831|MESH:D012735|MESH:D014623|MESH:D020018 C12.050.351.500.894.870|C12.050.351.500.919|C12.100.250.894.870|C12.100.250.919|C12.100.875.871|F03.835.900 C12.050.351.500|C12.050.351.500.894|C12.100.250|C12.100.250.894|C12.100.875|F03.835 Mental disorder|Urogenital disease (female) Vaginitis MESH:D014627 DO:DOID:2170 Inflammation of the vagina characterized by pain and a purulent discharge. MESH:D014623 C12.050.351.500.894.906|C12.100.250.894.906 C12.050.351.500.894|C12.100.250.894 Vaginitides Urogenital disease (female) Vaginosis, Bacterial MESH:D016585 DO:DOID:3385 Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli. MESH:D001424|MESH:D014627 C01.150.252.954|C12.050.351.500.894.906.800|C12.100.250.894.906.800 C01.150.252|C12.050.351.500.894.906|C12.100.250.894.906 Bacterial Vaginitides|Bacterial Vaginitis|Bacterial Vaginoses|Bacterial Vaginosis|Nonspecific Vaginitis|Vaginitides, Bacterial|Vaginitis, Bacterial|Vaginitis, Nonspecific|Vaginoses, Bacterial Bacterial infection or mycosis|Urogenital disease (female) Vagus Nerve Diseases MESH:D020421 DO:DOID:12491 Diseases of the tenth cranial nerve, including brain stem lesions involving its nuclei (solitary, ambiguus, and dorsal motor), nerve fascicles, and intracranial and extracranial course. Clinical manifestations may include dysphagia, vocal cord weakness, and alterations of parasympathetic tone in the thorax and abdomen. MESH:D003389 C10.292.887 C10.292 Cranial Nerve X Diseases|Disorder, Pneumogastric Nerve|Disorders, Pneumogastric Nerve|Motor Disorder, Vagus Nerve|Neuropathies, Vagus|Neuropathy, Vagus|Pneumogastric Nerve Disorder|Pneumogastric Nerve Disorders|Sensory Disorder, Vagus Nerve|Tenth Cranial Nerve Diseases|Vagus Nerve Disease|Vagus Nerve Disorder|Vagus Nerve Disorders|Vagus Nerve Motor Disorder|Vagus Nerve Sensory Disorder|Vagus Neuropathies|Vagus Neuropathy Nervous system disease Vagus Nerve Injuries MESH:D061223 Traumatic injuries to the VAGUS NERVE. Because the vagus nerve innervates multiple organs, injuries in the nerve fibers may result in any gastrointestinal organ dysfunction downstream of the injury site. MESH:D020209|MESH:D020421 C10.292.200.937|C10.292.887.399|C10.900.300.218.887|C26.915.300.400.912 C10.292.200|C10.292.887|C10.900.300.218|C26.915.300.400 Avulsions, Vagus Nerve|Avulsion, Vagus Nerve|Contusions, Vagus Nerve|Contusion, Vagus Nerve|Cranial Nerve X Injury|Injuries, Vagus Nerve|Injury, Cranial Nerve X|Injury, Tenth Cranial Nerve|Injury, Vagus Nerve|Nerve Avulsions, Vagus|Nerve Avulsion, Vagus|Nerve Contusions, Vagus|Nerve Contusion, Vagus|Nerve Injuries, Vagus|Nerve Injury, Vagus|Nerve Transections, Vagus|Nerve Transection, Vagus|Nerve Traumas, Vagus|Nerve Trauma, Vagus|Neuropathies, Traumatic Vagus|Neuropathy, Traumatic Vagus|Palsies, Traumatic Tenth-Nerve|Palsy, Traumatic Tenth-Nerve|Tenth Cranial Nerve Injuries|Tenth Cranial Nerve Injury|Tenth-Nerve Palsies, Traumatic|Tenth Nerve Palsy, Traumatic|Tenth-Nerve Palsy, Traumatic|Tenth Nerve Trauma|Tenth-Nerve Trauma|Tenth-Nerve Traumas|Transections, Vagus Nerve|Transection, Vagus Nerve|Traumas, Tenth-Nerve|Traumas, Vagus Nerve|Trauma, Tenth-Nerve|Traumatic Tenth-Nerve Palsies|Traumatic Tenth Nerve Palsy|Traumatic Tenth-Nerve Palsy|Traumatic Vagus Neuropathies|Traumatic Vagus Neuropathy|Trauma, Vagus Nerve|Vagus Nerve Avulsion|Vagus Nerve Avulsions|Vagus Nerve Contusion|Vagus Nerve Contusions|Vagus Nerve Injury|Vagus Nerve Transection|Vagus Nerve Transections|Vagus Nerve Trauma|Vagus Nerve Traumas|Vagus Neuropathies, Traumatic|Vagus Neuropathy, Traumatic Nervous system disease|Wounds and injuries Valinemia MESH:C536524 MESH:D000592 C16.320.565.100/C536524|C18.452.648.100/C536524 C16.320.565.100|C18.452.648.100 Hypervalinemia|Valine transaminase deficiency Genetic disease (inborn)|Metabolic disease Valproic acid antenatal infection MESH:C536525 DO:DOID:0060471 MESH:D000014 C16.131.042/C536525 C16.131.042 Dalpro, Fetal Effects From|Epival, Fetal Effects From|Fetal valproate syndrome|Fetal valproic syndrome|Valproic acid embryopathy Congenital abnormality Van Bogaert-Hozay syndrome MESH:C536526 MESH:D001763|MESH:D003649|MESH:D008607|MESH:D013285|MESH:D019465|MESH:D030981 C05.116.099.052/C536526|C05.116.198.247.400/C536526|C05.116.264.579.052/C536526|C05.660.207/C536526|C10.292.562.887/C536526|C10.597.606.360/C536526|C11.338.204/C536526|C11.590.810/C536526|C16.131.621.207/C536526|C18.452.104.247.400/C536526|C18.452.174.289/C536526|C23.888.592.604.646/C536526|F03.625.539/C536526 C05.116.099.052|C05.116.198.247.400|C05.116.264.579.052|C05.660.207|C10.292.562.887|C10.597.606.360|C11.338.204|C11.590.810|C16.131.621.207|C18.452.104.247.400|C18.452.174.289|C23.888.592.604.646|F03.625.539 Acro-osteolysis-facial dysplasia syndrome|Hozay's syndrome Congenital abnormality|Eye disease|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Van Buchem disease type 2 MESH:C536527 MESH:D010009|MESH:D019465 C05.116.099.708/C536527|C05.660.207/C536527|C16.131.621.207/C536527|C16.320.728/C536527 C05.116.099.708|C05.660.207|C16.131.621.207|C16.320.728 Osteosclerosis of the skull and enlarged mandible|Van Buchem Disease, Type 2 Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Van Den Bosch Syndrome MESH:C563129 MESH:D007007|MESH:D007644|MESH:D008607|MESH:D015794 C10.597.606.360/C563129|C11.270.142/C563129|C11.941.160.300/C563129|C16.320.290.142/C563129|C16.320.322.092/C563129|C16.320.850.190/C563129|C17.800.428.275/C563129|C17.800.827.190/C563129|C17.800.946.370/C563129|C23.888.592.604.646/C563129|F03.625.539/C563129 C10.597.606.360|C11.270.142|C11.941.160.300|C16.320.290.142|C16.320.322.092|C16.320.850.190|C17.800.428.275|C17.800.827.190|C17.800.946.370|C23.888.592.604.646|F03.625.539 Eye disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome MESH:C538657 MESH:D014849 C16.131.077.938/C538657 C16.131.077.938 Mende Syndrome|Ptosis-Epicanthus Syndrome Congenital abnormality Van der Woude syndrome MESH:C536528 DO:DOID:0060239|OMIM:119300 MESH:D000015|MESH:D002971|MESH:D002972|MESH:D003560 C04.182/C536528|C05.500.460.185/C536528|C05.660.207.540.460.185/C536528|C07.320.440.185/C536528|C07.465.409.225/C536528|C07.465.525.164/C536528|C07.465.525.185/C536528|C07.650.500.460.185/C536528|C07.650.525.164/C536528|C07.650.525.185/C536528|C16.131.077/C536528|C16.131.621.207.540.460.185/C536528|C16.131.850.500.460.185/C536528|C16.131.850.525.164/C536528|C16.131.850.525.185/C536528|C23.300.306/C536528 C04.182|C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.077|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185|C23.300.306 Cleft lip and-or palate with mucous cysts of lower lip|CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP|Lip pit syndrome|Lip-Pit Syndrome|LPS|PIT|VAN DER WOUDE SYNDROME 1|VDWS|VWS1 Cancer|Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition) VAN DER WOUDE SYNDROME 1, MODIFIER OF OMIM:604547 MESH:C536528 C04.182/C536528/604547|C05.500.460.185/C536528/604547|C05.660.207.540.460.185/C536528/604547|C07.320.440.185/C536528/604547|C07.465.409.225/C536528/604547|C07.465.525.164/C536528/604547|C07.465.525.185/C536528/604547|C07.650.500.460.185/C536528/604547|C07.650.525.164/C536528/604547|C07.650.525.185/C536528/604547|C16.131.077/C536528/604547|C16.131.621.207.540.460.185/C536528/604547|C16.131.850.500.460.185/C536528/604547|C16.131.850.525.164/C536528/604547|C16.131.850.525.185/C536528/604547|C23.300.306/C536528/604547 C04.182/C536528|C05.500.460.185/C536528|C05.660.207.540.460.185/C536528|C07.320.440.185/C536528|C07.465.409.225/C536528|C07.465.525.164/C536528|C07.465.525.185/C536528|C07.650.500.460.185/C536528|C07.650.525.164/C536528|C07.650.525.185/C536528|C16.131.077/C536528|C16.131.621.207.540.460.185/C536528|C16.131.850.500.460.185/C536528|C16.131.850.525.164/C536528|C16.131.850.525.185/C536528|C23.300.306/C536528 VWSM Cancer|Congenital abnormality|Mouth disease|Musculoskeletal disease|Pathology (anatomical condition) Van der Woude syndrome 2 MESH:C536529 OMIM:606713 MESH:D000015|MESH:D002971|MESH:D002972 C05.500.460.185/C536529|C05.660.207.540.460.185/C536529|C07.320.440.185/C536529|C07.465.409.225/C536529|C07.465.525.164/C536529|C07.465.525.185/C536529|C07.650.500.460.185/C536529|C07.650.525.164/C536529|C07.650.525.185/C536529|C16.131.077/C536529|C16.131.621.207.540.460.185/C536529|C16.131.850.500.460.185/C536529|C16.131.850.525.164/C536529|C16.131.850.525.185/C536529 C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C16.131.077|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 VWS2 Congenital abnormality|Mouth disease|Musculoskeletal disease Vanishing White Matter Leukodystrophy with Ovarian Failure MESH:C565836 OMIM:603896 MESH:D010049|MESH:D056784 C10.228.140.695/C565836|C12.050.351.500.056.630/C565836|C12.100.250.056.630/C565836|C19.391.630/C565836 C10.228.140.695|C12.050.351.500.056.630|C12.100.250.056.630|C19.391.630 CACH|CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION|LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1|Ovarioleukodystrophy|VANISHING WHITE MATTER LEUKODYSTROPHY|VWM1 Endocrine system disease|Nervous system disease|Urogenital disease (female) Van Maldergem Wetzburger Verloes syndrome MESH:C536530 DO:DOID:0060238|OMIM:601390|OMIM:615546 MESH:D000015|MESH:D005532|MESH:D006228|MESH:D007593|MESH:D008607|MESH:D019465 C05.330.495/C536530|C05.390.408/C536530|C05.550.521/C536530|C05.660.207/C536530|C05.660.585.512.380/C536530|C05.660.585.988.425/C536530|C10.597.606.360/C536530|C16.131.077/C536530|C16.131.621.207/C536530|C16.131.621.585.512.500/C536530|C16.131.621.585.988.500/C536530|C23.888.592.604.646/C536530|F03.625.539/C536530 C05.330.495|C05.390.408|C05.550.521|C05.660.207|C05.660.585.512.380|C05.660.585.988.425|C10.597.606.360|C16.131.077|C16.131.621.207|C16.131.621.585.512.500|C16.131.621.585.988.500|C23.888.592.604.646|F03.625.539 Cerebro-facio-articular syndrome|Cerebrofacioarticular syndrome|Cerebro-facio-articular syndrome of Van Maldergem|Van Maldergem syndrome|VAN MALDERGEM SYNDROME 1|VAN MALDERGEM SYNDROME 2|VMLDS1|VMLDS2 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Varicella, Severe Recurrent MESH:C563458 MESH:D002644 C01.925.256.466.930.250/C563458 C01.925.256.466.930.250 Viral disease Varicella Zoster Virus Infection MESH:D000073618 Infection caused by HUMAN HERPES VIRUS 3 (e.g., CHICKENPOX and HERPES ZOSTER). MESH:D006566 C01.925.256.466.930 C01.925.256.466 Congenital Varicella Syndrome Viral disease Varicocele MESH:D014646 DO:DOID:12337 A condition characterized by the dilated tortuous veins of the SPERMATIC CORD with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume. MESH:D005832|MESH:D014652 C12.100.500.936|C12.200.294.936|C14.907.903 C12.100.500|C12.200.294|C14.907 Varicoceles Cardiovascular disease|Urogenital disease (male) Varicose Ulcer MESH:D014647 Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg. MESH:D007871|MESH:D014648 C14.907.927.730|C17.800.893.592.730 C14.907.927|C17.800.893.592 Hypertension Ulcers, Venous|Hypertension Ulcer, Venous|Stasis Ulcer|Stasis Ulcers|Stasis Ulcers, Venous|Stasis Ulcer, Venous|Ulcers, Stasis|Ulcer, Stasis|Ulcers, Varicose|Ulcers, Venous|Ulcers, Venous Hypertension|Ulcers, Venous Stasis|Ulcer, Varicose|Ulcer, Venous|Ulcer, Venous Hypertension|Ulcer, Venous Stasis|Varicose Ulcers|Venous Hypertension Ulcer|Venous Hypertension Ulcers|Venous Stasis Ulcer|Venous Stasis Ulcers|Venous Ulcer|Venous Ulcers Cardiovascular disease|Skin disease Varicose Veins MESH:D014648 DO:DOID:799|OMIM:192200 Enlarged and tortuous VEINS. MESH:D014652 C14.907.927 C14.907 Varices|Varicose Vein|Varix|Veins, Varicose|Vein, Varicose Cardiovascular disease Vasa Previa MESH:D055949 Pregnancy complication where fetal blood vessels, normally inside the umbilical cord, are left unprotected and cross FETAL MEMBRANES. It is associated with antepartum bleeding and FETAL DEATH and STILLBIRTH due to exsanguination. MESH:D007744 C12.050.703.420.952 C12.050.703.420 Praevias, Vasa|Praevia, Vasa|Previas, Vasa|Previa, Vasa|Vasa Praevia|Vasa Praevias|Vasa Previas Pregnancy complication Vascular Calcification MESH:D061205 Deposition of calcium into the blood vessel structures. Excessive calcification of the vessels is associated with ATHEROSCLEROTIC PLAQUES formation particularly after MYOCARDIAL INFARCTION (see MONCKEBERG MEDIAL CALCIFIC SCLEROSIS) and chronic kidney diseases which in turn increase VASCULAR STIFFNESS. MESH:D002114 C18.452.174.130.780 C18.452.174.130 Calcification, Vascular|Calcinosis, Vascular|Vascular Calcifications|Vascular Calcinoses|Vascular Calcinosis Metabolic disease Vascular Compression of the Duodenum MESH:C548420 MESH:D013478 C06.405.469.275.395.890/C548420 C06.405.469.275.395.890 Digestive system disease Vascular Depression MESH:D000088323 Late-life depression associated with clinical or MRI defined cerebrovascular pathology. MESH:D002561|MESH:D003866 C10.228.140.300.794|C14.907.253.896|F03.600.300.887 C10.228.140.300|C14.907.253|F03.600.300 Depression, Subcortical Ischemic|Depression, Vascular|Subcortical Ischemic Depression Cardiovascular disease|Mental disorder|Nervous system disease Vascular Diseases MESH:D014652 DO:DOID:178 Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body. MESH:D002318 C14.907 C14 Diseases, Vascular|Disease, Vascular|Vascular Disease Cardiovascular disease Vascular Fistula MESH:D016157 An abnormal passage between two or more BLOOD VESSELS, between ARTERIES; VEINS; or between an artery and a vein. MESH:D005402|MESH:D014652|MESH:D054079 C14.240.850.984|C14.907.933|C23.300.575.950 C14.240.850|C14.907|C23.300.575 Fistulas, Vascular|Fistula, Vascular|Vascular Fistulas Cardiovascular disease|Pathology (anatomical condition) Vascular Headaches MESH:D014653 Secondary headache disorders attributed to a variety of cranial or cervical vascular disorders, such as BRAIN ISCHEMIA; INTRACRANIAL HEMORRHAGES; and CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS. MESH:D002561|MESH:D051271 C10.228.140.300.800|C10.228.140.546.699.500|C14.907.253.937 C10.228.140.300|C10.228.140.546.699|C14.907.253 Cephalgias, Vascular|Cephalgia, Vascular|Headaches, Vascular|Headache, Vascular|Vascular Cephalgia|Vascular Cephalgias|Vascular Headache Cardiovascular disease|Nervous system disease Vascular Hyalinosis MESH:C564750 MESH:D003967|MESH:D007410|MESH:D012868|MESH:D014652|MESH:D015785 C06.405.469/C564750|C11.270/C564750|C14.907/C564750|C16.131.831/C564750|C16.320.290/C564750|C17.800.804/C564750|C23.888.821.214/C564750 C06.405.469|C11.270|C14.907|C16.131.831|C16.320.290|C17.800.804|C23.888.821.214 Cardiovascular disease|Congenital abnormality|Digestive system disease|Eye disease|Genetic disease (inborn)|Signs and symptoms|Skin disease Vascular Malformation, Primary Intraosseous MESH:C564648 OMIM:606893 MESH:D054079 C14.240.850/C564648|C16.131.240.850/C564648 C14.240.850|C16.131.240.850 Hemangioma, Intraosseous|Vascular Malformation Osseous|VMOS|VMPI Cardiovascular disease|Congenital abnormality Vascular Malformations MESH:D054079 A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases. MESH:D018376 C14.240.850|C16.131.240.850 C14.240|C16.131.240 Malformations, Vascular|Malformation, Vascular|Vascular Malformation Cardiovascular disease|Congenital abnormality Vascular Neoplasms MESH:D019043 DO:DOID:175 Neoplasms located in the vasculature system, such as ARTERIES and VEINS. They are differentiated from neoplasms of vascular tissue (NEOPLASMS, VASCULAR TISSUE), such as ANGIOFIBROMA or HEMANGIOMA. MESH:D012983|MESH:D014652 C04.588.839.750|C14.907.936 C04.588.839|C14.907 Neoplasms, Vascular|Neoplasm, Vascular|Vascular Neoplasm Cancer|Cardiovascular disease Vascular purpura MESH:C537256 MESH:D011695 C14.907.940.777/C537256|C15.378.100.802.375/C537256|C15.378.463.515.580/C537256|C17.800.862.329/C537256|C20.543.520.600/C537256|C23.550.414.950.375/C537256|C23.888.885.687.375/C537256 C14.907.940.777|C15.378.100.802.375|C15.378.463.515.580|C17.800.862.329|C20.543.520.600|C23.550.414.950.375|C23.888.885.687.375 Blood disease|Cardiovascular disease|Immune system disease|Pathology (process)|Signs and symptoms|Skin disease Vascular Remodeling MESH:D066253 The active alterations of vascular wall structures, often leading to elevated VASCULAR RESISTANCE. It is associated with AGING; ATHEROSCLEROSIS; DIABETES MELLITUS; HYPERTENSION; PREGNANCY; PULMONARY HYPERTENSION; and STROKE, but is also a normal part of EMBRYOGENESIS. MESH:D010335|MESH:D020763 C23.300.977|C23.550.918 C23.300|C23.550 Arterial Remodeling, Pulmonary|Arterial Remodelings, Pulmonary|Pulmonary Arterial Remodeling|Pulmonary Arterial Remodelings|Remodeling, Pulmonary Arterial|Remodelings, Pulmonary Arterial|Remodelings, Vascular|Remodeling, Vascular|Vascular Remodelings Pathology (anatomical condition)|Pathology (process) Vascular Ring MESH:D000073872 Congenital vascular malformation in which the AORTA arch and its branches encircle the TRACHEA and ESOPHAGUS. Signs and symptoms include DYSPNEA; RESPIRATORY SOUNDS, especially with eating, DYSPHAGIA, persistent cough, and GASTROESOPHAGEAL REFLUX or may be asymptomatic. Two most common types are double aortic arch and right aortic arch. It may be associated with other anomalies (e.g., DIGEORGE SYNDROME). MESH:D001015|MESH:D054079 C14.240.850.992|C14.907.109.239.825|C16.131.240.850.984 C14.240.850|C14.907.109.239|C16.131.240.850 Aortic Arch, Double|Double Aortic Arch|Right Aortic Arch Syndrome|Right Aortic Arch with Left Ligamentum Arteriosum|Vascular Rings Cardiovascular disease|Congenital abnormality Vascular System Injuries MESH:D057772 Injuries to blood vessels caused by laceration, contusion, puncture, or crush and other types of injuries. Symptoms vary by site and mode of injuries and may include bleeding, bruising, swelling, pain, and numbness. It does not include injuries secondary to pathologic function or diseases such as ATHEROSCLEROSIS. MESH:D014652|MESH:D014947 C14.907.937|C26.940 C14.907|C26 Injuries, Vascular|Injuries, Vascular System|Injury, Vascular|Injury, Vascular System|System Injuries, Vascular|System Injury, Vascular|Vascular Injuries|Vascular Injury|Vascular System Injury Cardiovascular disease|Wounds and injuries Vasculitis MESH:D014657 DO:DOID:865 Inflammation of any one of the blood vessels, including the ARTERIES; VEINS; and rest of the vasculature system in the body. MESH:D014652 C14.907.940 C14.907 Angiitides|Angiitis|Vasculitides Cardiovascular disease Vasculitis, Central Nervous System MESH:D020293 DO:DOID:2555|DO:DOID:525 Inflammation of blood vessels within the central nervous system. Primary vasculitis is usually caused by autoimmune or idiopathic factors, while secondary vasculitis is caused by existing disease process. Clinical manifestations are highly variable but include HEADACHE; SEIZURES; behavioral alterations; INTRACRANIAL HEMORRHAGES; TRANSIENT ISCHEMIC ATTACK; and BRAIN INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, pp856-61) MESH:D002561|MESH:D014657|MESH:D020274 C10.114.875|C10.228.140.300.850|C14.907.253.946|C14.907.940.907|C20.111.258.962 C10.114|C10.228.140.300|C14.907.253|C14.907.940|C20.111.258 Angiitis, Central Nervous System|Angiitis, Cerebral|Angiitis, Granulomatous|Arteritis, Granulomatous|Arteritis, Postzoster|Central Nervous System Angiitis|Central Nervous System Vasculitis|Cerebral Angiitis|Cerebral Vasculitis|CNS Vasculitis|CNS Vasculitis, Primary|CNS Vasculitis, Secondary|Granulomatous Angiitis|Granulomatous Arteritis|Postzoster Arteritis|Primary Central Nervous System Vasculitis|Primary CNS Vasculitis|Secondary CNS Vasculitis|Vasculitis, Cerebral|Vasculitis, CNS|Vasculitis, CNS, Secondary|Vasculitis, Primary CNS|Vasculitis, Secondary CNS Cardiovascular disease|Immune system disease|Nervous system disease Vasculitis, Leukocytoclastic, Cutaneous MESH:D018366 DO:DOID:9809 Disorder characterized by a vasculitic syndrome associated with exposure to an antigen such as a drug, infectious agent, or other foreign or endogenous substance. Its pathophysiology includes immune complex deposition and a wide range of skin lesions. Hypersensitivity or allergy is present in some but not all cases. MESH:D007105|MESH:D014657|MESH:D017445 C14.907.940.910|C17.800.862.972|C20.543.520.910 C14.907.940|C17.800.862|C20.543.520 Allergic Cutaneous Angiitides|Allergic Cutaneous Angiitis|Allergic Cutaneous Vasculitides|Allergic Cutaneous Vasculitis|Allergic Vasculitides, Cutaneous|Allergic Vasculitis, Cutaneous|Angiitides, Allergic Cutaneous|Angiitides, Cutaneous Leukocytoclastic|Angiitides, Hypersensitivity|Angiitis, Allergic Cutaneous|Angiitis, Cutaneous Leukocytoclastic|Angiitis, Hypersensitivity|Cutaneous Allergic Vasculitides|Cutaneous Allergic Vasculitis|Cutaneous Angiitides, Allergic|Cutaneous Angiitis, Allergic|Cutaneous Leukocytoclastic Angiitides|Cutaneous Leukocytoclastic Angiitis|Cutaneous Leukocytoclastic Vasculitides|Cutaneous Leukocytoclastic Vasculitis|Cutaneous Vasculitides, Allergic|Cutaneous Vasculitis, Allergic|Hypersensitivity Angiitides|Hypersensitivity Angiitis|Hypersensitivity Vasculitides|Hypersensitivity Vasculitis|Leukocytoclastic Angiitides, Cutaneous|Leukocytoclastic Angiitis, Cutaneous|Leukocytoclastic Vasculitides, Cutaneous|Leukocytoclastic Vasculitis, Cutaneous|Vasculitides, Allergic Cutaneous|Vasculitides, Cutaneous Allergic|Vasculitides, Cutaneous Leukocytoclastic|Vasculitides, Hypersensitivity|Vasculitis, Allergic Cutaneous|Vasculitis, Cutaneous Allergic|Vasculitis, Cutaneous Leukocytoclastic|Vasculitis, Hypersensitivity Cardiovascular disease|Immune system disease|Skin disease Vasculitis, Lymphocytic, Cutaneous Small Vessel MESH:C565222 MESH:D014657 C14.907.940/C565222 C14.907.940 Cardiovascular disease Vasculitis, Lymphocytic, Nodular MESH:C566008 MESH:D008206|MESH:D014657 C14.907.940/C566008|C15.604/C566008 C14.907.940|C15.604 Cardiovascular disease|Lymphatic disease Vasculopathy, Retinal, With Cerebral Leukodystrophy MESH:C566007 DO:DOID:0111567|OMIM:192315 MESH:D012164|MESH:D014652|MESH:D020279 C10.228.140.163.100.362/C566007|C10.228.140.695.625/C566007|C10.314.400/C566007|C10.574.500.490/C566007|C11.768/C566007|C14.907/C566007|C16.320.400.367/C566007|C16.320.565.189.362/C566007|C18.452.132.100.362/C566007|C18.452.648.189.362/C566007 C10.228.140.163.100.362|C10.228.140.695.625|C10.314.400|C10.574.500.490|C11.768|C14.907|C16.320.400.367|C16.320.565.189.362|C18.452.132.100.362|C18.452.648.189.362 Cerebroretinal Vasculopathy, Hereditary|CRV|Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena|RVCLS|VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, FORMERLY|VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Cardiovascular disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease Vasoplegia MESH:D056987 Condition of low SYSTEMIC VASCULAR RESISTANCE that develops secondary to other conditions such as ANAPHYLAXIS; SEPSIS; SURGICAL SHOCK; and SEPTIC SHOCK. Vasoplegia that develops during or post surgery (e.g., CARDIOPULMONARY BYPASS) is called postoperative vasoplegic syndrome or vasoplegic syndrome. MESH:D011183|MESH:D014652 C14.907.946|C23.550.767.962 C14.907|C23.550.767 Post operative Vasoplegic Syndrome|Post-operative Vasoplegic Syndrome|Postoperative Vasoplegic Syndrome|Post-operative Vasoplegic Syndromes|Syndrome, Post-operative Vasoplegic|Syndromes, Post-operative Vasoplegic|Vasoplegias|Vasoplegic Syndrome|Vasoplegic Syndrome, Post-operative|Vasoplegic Syndromes, Post-operative Cardiovascular disease|Pathology (process) Vasospasm, Intracranial MESH:D020301 DO:DOID:13100 Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN). MESH:D002561 C10.228.140.300.900|C14.907.253.951 C10.228.140.300|C14.907.253 Angiospasm, Cerebral|Angiospasm, Intracranial|Angiospasms, Cerebral|Angiospasms, Intracranial|Artery Spasm, Cerebral|Artery Spasms, Cerebral|Cerebral Angiospasm|Cerebral Angiospasms|Cerebral Artery Spasm|Cerebral Artery Spasms|Cerebral Vasospasm|Cerebral Vasospasms|Cerebrovascular Spasm|Cerebrovascular Spasms|Intracranial Angiospasm|Intracranial Angiospasms|Intracranial Vascular Spasm|Intracranial Vascular Spasms|Intracranial Vasospasm|Intracranial Vasospasms|Spasm, Cerebral Artery|Spasm, Cerebrovascular|Spasm, Intracranial Vascular|Spasms, Cerebral Artery|Spasms, Cerebrovascular|Spasms, Intracranial Vascular|Vascular Spasm, Intracranial|Vascular Spasms, Intracranial|Vasospasm, Cerebral|Vasospasms, Cerebral|Vasospasms, Intracranial Cardiovascular disease|Nervous system disease Vasquez Hurst Sotos syndrome MESH:C536533 MESH:D006177|MESH:D007006|MESH:D008607|MESH:D009765|MESH:D040181 C10.597.606.360/C536533|C16.320.322/C536533|C17.800.090.875/C536533|C18.654.726.750.500/C536533|C19.391.482/C536533|C23.888.144.699.500/C536533|C23.888.592.604.646/C536533|F03.625.539/C536533 C10.597.606.360|C16.320.322|C17.800.090.875|C18.654.726.750.500|C19.391.482|C23.888.144.699.500|C23.888.592.604.646|F03.625.539 Endocrine system disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Nutrition disorder|Signs and symptoms|Skin disease VATER association MESH:C536534 DO:DOID:14679|OMIM:192350 MESH:D001006|MESH:D006330 C06.198.050/C536534|C14.240.400/C536534|C14.280.400/C536534|C16.131.240.400/C536534|C16.131.314.094/C536534 C06.198.050|C14.240.400|C14.280.400|C16.131.240.400|C16.131.314.094 VATER/VACTERL ASSOCIATION|Vertebral defects, Anal atresia, Tracheoesophageal fistula with Esophageal atresia, and Radial dysplasia Cardiovascular disease|Congenital abnormality|Digestive system disease Vater Association With Hydrocephalus MESH:C564752 MESH:D001006|MESH:D006330|MESH:D006849|MESH:D014138|MESH:D058627 C05.660.207.536/C564752|C06.198.050/C564752|C06.267.250.725/C564752|C06.405.117.367.725/C564752|C08.702.750/C564752|C08.907.863/C564752|C10.228.140.602/C564752|C10.500.507.400.249/C564752|C14.240.400/C564752|C14.280.400/C564752|C16.131.240.400/C564752|C16.131.314.094/C564752|C16.131.621.207.532/C564752|C16.131.666.507.400.249/C564752|C23.300.575.185.250.725/C564752 C05.660.207.536|C06.198.050|C06.267.250.725|C06.405.117.367.725|C08.702.750|C08.907.863|C10.228.140.602|C10.500.507.400.249|C14.240.400|C14.280.400|C16.131.240.400|C16.131.314.094|C16.131.621.207.532|C16.131.666.507.400.249|C23.300.575.185.250.725 Vater Association With Macrocephaly And Ventriculomegaly Cardiovascular disease|Congenital abnormality|Digestive system disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Respiratory tract disease Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency MESH:C564244 MESH:D006130|MESH:D006330|MESH:D006976 C08.381.423/C564244|C14.240.400/C564244|C14.280.400/C564244|C14.907.489.556/C564244|C16.131.240.400/C564244|C23.550.393/C564244 C08.381.423|C14.240.400|C14.280.400|C14.907.489.556|C16.131.240.400|C23.550.393 Cardiovascular disease|Congenital abnormality|Pathology (process)|Respiratory tract disease VDAC Deficiency MESH:C565767 MESH:D028361 C18.452.660/C565767 C18.452.660 Metabolic disease Vector Borne Diseases MESH:D000079426 Infectious diseases transmitted by DISEASE VECTORS. MESH:D007239 C01.920 C01 Mosquito Borne Disease|Mosquito-Borne Disease|Mosquito Borne Diseases|Mosquito-Borne Diseases|Vectorborne Disease|Vector Borne Disease|Vector-Borne Disease|Vectorborne Diseases|Vector-Borne Diseases Vein of Galen aneurysm MESH:C536535 MESH:D054080 C10.228.140.300.520.500/C536535|C10.500.190.500.500/C536535|C14.240.850.750.295.500/C536535|C14.240.850.875.500.500/C536535|C14.907.150.295.500/C536535|C14.907.253.560.400.500/C536535|C16.131.240.850.750.295.500/C536535|C16.131.240.850.875.500.500/C536535|C16.131.666.190.500.500/C536535 C10.228.140.300.520.500|C10.500.190.500.500|C14.240.850.750.295.500|C14.240.850.875.500.500|C14.907.150.295.500|C14.907.253.560.400.500|C16.131.240.850.750.295.500|C16.131.240.850.875.500.500|C16.131.666.190.500.500 Ectasia or varix of the vein of Galen|Galenic arteriovenous malformation|Galen vein aneurysm|Vein of Galen aneurysm malformation Cardiovascular disease|Congenital abnormality|Nervous system disease Vein of Galen Malformations MESH:D054080 Congenital arteriovenous malformation involving the VEIN OF GALEN, a large deep vein at the base of the brain. The rush of arterial blood directly into the vein of Galen, without passing through the CAPILLARIES, can overwhelm the heart and lead to CONGESTIVE HEART FAILURE. MESH:D002538 C10.228.140.300.520.500|C10.500.190.500.500|C14.240.850.750.295.500|C14.240.850.875.500.500|C14.907.150.295.500|C14.907.253.560.400.500|C16.131.240.850.750.295.500|C16.131.240.850.875.500.500|C16.131.666.190.500.500 C10.228.140.300.520|C10.500.190.500|C14.240.850.750.295|C14.240.850.875.500|C14.907.150.295|C14.907.253.560.400|C16.131.240.850.750.295|C16.131.240.850.875.500|C16.131.666.190.500 Galen Malformations Veins|Malformations Vein, Galen|Malformations Veins, Galen|Vein Of Galen Malformation Cardiovascular disease|Congenital abnormality|Nervous system disease Velofacioskeletal syndrome MESH:C536536 MESH:D000015 C16.131.077/C536536 C16.131.077 Congenital abnormality Velopharyngeal Insufficiency MESH:D014681 Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech. MESH:D009056|MESH:D010608 C07.465.525.955|C07.550.966|C07.650.525.955|C09.775.955|C16.131.850.525.955 C07.465.525|C07.550|C07.650.525|C09.775|C16.131.850.525 Inadequate Velopharyngeal Closure|Incompetence, Palatopharyngeal|Incompetence, Velopharyngeal|Insufficiency, Velopharyngeal|Palatopharyngeal Incompetence|Velopharyngeal Closures, Inadequate|Velopharyngeal Incompetence Congenital abnormality|Ear-nose-throat disease|Mouth disease Venereal Tumors, Veterinary MESH:D014685 Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur. MESH:D000820|MESH:D014565 C04.588.945.956|C22.950 C04.588.945|C22 Transmissible Venereal Tumor|Transmissible Venereal Tumors|Tumors, Transmissible Venereal|Tumors, Veterinary Venereal|Tumor, Transmissible Venereal|Tumor, Veterinary Venereal|Venereal Tumors, Transmissible|Venereal Tumor, Transmissible|Venereal Tumor, Veterinary|Veterinary Venereal Tumor|Veterinary Venereal Tumors Animal disease|Cancer Venom Hypersensitivity MESH:D000092422 Allergic reaction to venoms in insect bites and stings that is triggered by the immune system (i.e., HISTAMINE RELEASE). MESH:D006969 C20.543.480.952 C20.543.480 Allergy, Arthropod Venom|Allergy, Bee Sting|Allergy, Honeybee Venom|Allergy, Hornet Sting|Allergy, Insect Sting|Allergy, Insect Venom|Allergy, Jellyfish Sting|Allergy, Venom|Allergy, Wasp Sting|Anaphylaxis, Bee Sting|Arthropod Venom Allergies|Arthropod Venom Allergy|Arthropod Venom Hypersensitivities|Arthropod Venom Hypersensitivity|Bee Sting Allergies|Bee Sting Allergy|Bee Sting Anaphylaxis|Bee Sting Hypersensitivities|Bee Sting Hypersensitivity|Fire Ant Sting Allergy|Fire Ant Sting Hypersensitivity|Honeybee Venom Allergies|Honeybee Venom Allergy|Hornet Sting Allergies|Hornet Sting Allergy|Hornet Sting Hypersensitivities|Hornet Sting Hypersensitivity|Hypersensitivity, Arthropod Venom|Hypersensitivity, Bee Sting|Hypersensitivity, Hornet Sting|Hypersensitivity, Jellyfish Sting|Hypersensitivity, Venom|Hypersensitivity, Wasp Sting|Insect Bite Papular Urticaria|Insect Sting Allergies|Insect Sting Allergy|Insect Venom Allergies|Insect Venom Allergy|Jellyfish Sting Allergies|Jellyfish Sting Allergy|Jellyfish Sting Hypersensitivities|Jellyfish Sting Hypersensitivity|Sting Allergies, Jellyfish|Sting Allergy, Bee|Sting Allergy, Hornet|Sting Allergy, Insect|Sting Allergy, Jellyfish|Sting Allergy, Wasp|Sting Anaphylaxis, Bee|Sting Hypersensitivity, Bee|Sting Hypersensitivity, Hornet|Sting Hypersensitivity, Jellyfish|Sting Hypersensitivity, Wasp|Venom Allergies|Venom Allergy|Venom Allergy, Arthropod|Venom Allergy, Honeybee|Venom Allergy, Insect|Venom Hypersensitivities|Venom Hypersensitivity, Arthropod|Wasp Sting Allergies|Wasp Sting Allergy|Wasp Sting Hypersensitivities|Wasp Sting Hypersensitivity Immune system disease Venous Insufficiency MESH:D014689 DO:DOID:10128 Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with EDEMA and sometimes with VENOUS STASIS ULCERS at the ankle. MESH:D014652 C14.907.952 C14.907 Insufficiencies, Venous|Insufficiency, Venous|Venous Insufficiencies Cardiovascular disease Venous Malformations, Multiple Cutaneous and Mucosal MESH:C563977 DO:DOID:0050792|OMIM:600195 MESH:D001165 C14.240.850.750/C563977|C14.907.150/C563977|C16.131.240.850.750/C563977 C14.240.850.750|C14.907.150|C16.131.240.850.750 Mucocutaneous Venous Malformations|Multiple Cutaneous and Mucosal Venous Malformations|VMCM|Vmcm1 Cardiovascular disease|Congenital abnormality Venous Thromboembolism MESH:D054556 Obstruction of a vein or VEINS (embolism) by a blood clot (THROMBUS) in the blood stream. MESH:D013923 C14.907.355.590.700 C14.907.355.590 Thromboembolism, Venous Cardiovascular disease Venous Thrombosis MESH:D020246 The formation or presence of a blood clot (THROMBUS) within a vein. MESH:D013927 C14.907.355.830.925 C14.907.355.830 Deep Vein Thromboses|Deep-Vein Thromboses|Deep Vein Thrombosis|Deep-Vein Thrombosis|Deep Venous Thromboses|Deep-Venous Thromboses|Deep Venous Thrombosis|Deep-Venous Thrombosis|Phlebothromboses|Phlebothrombosis|Thromboses, Deep Vein|Thromboses, Deep-Vein|Thromboses, Deep Venous|Thromboses, Deep-Venous|Thromboses, Venous|Thrombosis, Deep Vein|Thrombosis, Deep-Vein|Thrombosis, Deep Venous|Thrombosis, Deep-Venous|Thrombosis, Venous|Vein Thromboses, Deep|Vein Thrombosis, Deep|Venous Thromboses|Venous Thromboses, Deep|Venous Thrombosis, Deep Cardiovascular disease Ventilator-Induced Lung Injury MESH:D055397 Lung damage that is caused by the adverse effects of PULMONARY VENTILATOR usage. The high frequency and tidal volumes produced by a mechanical ventilator can cause alveolar disruption and PULMONARY EDEMA. MESH:D055370 C08.381.520.750 C08.381.520 Lung Injuries, Ventilator-Induced|Lung Injury, Ventilator Induced|Lung Injury, Ventilator-Induced|Ventilator-Induced Lung Injuries|Ventilator Induced Lung Injury Respiratory tract disease Ventricular Dysfunction MESH:D018754 A condition in which HEART VENTRICLES exhibit impaired function. MESH:D006331 C14.280.945 C14.280 Dysfunctions, Ventricular|Dysfunction, Ventricular|Ventricular Dysfunctions Cardiovascular disease Ventricular Dysfunction, Left MESH:D018487 A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall. MESH:D018754 C14.280.945.900 C14.280.945 Diastolic Dysfunction, LV|Dysfunction, Left Ventricular|Dysfunction, LV|Dysfunction, LV Diastolic|Dysfunction, LV Systolic|Left Ventricular Diastolic Dysfunction|Left Ventricular Dysfunction|Left Ventricular Dysfunctions|Left Ventricular Systolic Dysfunction|LV Diastolic Dysfunction|LV Diastolic Dysfunctions|LV Dysfunction|LV Dysfunctions|LV Systolic Dysfunction|LV Systolic Dysfunctions|Systolic Dysfunction, LV Cardiovascular disease Ventricular Dysfunction, Right MESH:D018497 A condition in which the RIGHT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE or MYOCARDIAL INFARCTION, and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the right ventricular wall. MESH:D018754 C14.280.945.910 C14.280.945 Dysfunction, Right Ventricular|Dysfunctions, Right Ventricular|Right Ventricular Dysfunction|Right Ventricular Dysfunctions|Ventricular Dysfunctions, Right Cardiovascular disease Ventricular extrasystoles perodactyly Robin sequence MESH:C536537 MESH:D006228|MESH:D006330|MESH:D010855 C05.390.408/C536537|C05.500.460.606/C536537|C05.660.207.540.460.606/C536537|C05.660.585.988.425/C536537|C07.320.440.606/C536537|C07.650.500.460.606/C536537|C14.240.400/C536537|C14.280.400/C536537|C16.131.240.400/C536537|C16.131.621.207.540.460.606/C536537|C16.131.621.585.988.500/C536537|C16.131.850.500.460.606/C536537 C05.390.408|C05.500.460.606|C05.660.207.540.460.606|C05.660.585.988.425|C07.320.440.606|C07.650.500.460.606|C14.240.400|C14.280.400|C16.131.240.400|C16.131.621.207.540.460.606|C16.131.621.585.988.500|C16.131.850.500.460.606 Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease Ventricular Fibrillation MESH:D014693 A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness (SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST. MESH:D001145 C14.280.067.922|C23.550.073.922 C14.280.067|C23.550.073 Fibrillations, Ventricular|Fibrillation, Ventricular|Ventricular Fibrillations Cardiovascular disease|Pathology (process) Ventricular Fibrillation, Paroxysmal Familial, 1 MESH:C567851 MESH:D014693 C14.280.067.922/C567851|C23.550.073.922/C567851 C14.280.067.922|C23.550.073.922 Cardiovascular disease|Pathology (process) Ventricular Fibrillation, Paroxysmal Familial, 2 MESH:C567841 MESH:D014693 C14.280.067.922/C567841|C23.550.073.922/C567841 C14.280.067.922|C23.550.073.922 Cardiovascular disease|Pathology (process) Ventricular Flutter MESH:D054141 A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance. If untreated, ventricular flutter typically progresses to VENTRICULAR FIBRILLATION. MESH:D001145 C14.280.067.961|C23.550.073.961 C14.280.067|C23.550.073 Ventricular Flutters Cardiovascular disease|Pathology (process) Ventricular Outflow Obstruction MESH:D014694 Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS. MESH:D006331 C14.280.955 C14.280 Obstruction, Ventricular Outflow|Outflow Obstruction, Ventricular|Ventricular Outflow Obstructions Cardiovascular disease Ventricular Outflow Obstruction, Left MESH:D000092242 Occlusion of the outflow tract in the LEFT VENTRICLE of the heart. MESH:D014694 C14.280.955.875 C14.280.955 Dynamic Left Ventricular Outflow Tract Obstruction|Dynamic LVOT Obstruction|Dynamic LVOT Obstructions|Left Ventricular Outflow Obstruction|Left Ventricular Outflow Tract Obstruction|LVOT Obstruction|LVOT Obstruction, Dynamic|LVOT Obstructions|Obstruction, Dynamic LVOT|Obstruction, LVOT|Outflow Obstruction, Left Ventricular Cardiovascular disease Ventricular Outflow Obstruction, Right MESH:D000092243 Occlusion of the outflow tract in the RIGHT VENTRICLE of the heart. MESH:D014694 C14.280.955.937 C14.280.955 Dynamic Right Ventricular Outflow Tract Obstruction|Dynamic RVOT Obstruction|Dynamic RVOT Obstructions|Obstruction, Dynamic RVOT|Obstruction, RVOT|Outflow Obstruction, Right Ventricular|Right Ventricular Outflow Obstruction|Right Ventricular Outflow Tract Obstruction|RVOT Obstruction|RVOT Obstructions Cardiovascular disease Ventricular Premature Complexes MESH:D018879 A type of cardiac arrhythmia with premature contractions of the HEART VENTRICLES. It is characterized by the premature QRS complex on ECG that is of abnormal shape and great duration (generally >129 msec). It is the most common form of all cardiac arrhythmias. Premature ventricular complexes have no clinical significance except in concurrence with heart diseases. MESH:D005117 C14.280.067.325.500|C14.280.123.375.500|C23.550.073.325.800 C14.280.067.325|C14.280.123.375|C23.550.073.325 Ectopic Beats, Ventricular|Ectopic Beat, Ventricular|Extrasystole, Ventricular|Premature Ventricular Beat|Premature Ventricular Beats|Premature Ventricular Complex|Premature Ventricular Contraction|Premature Ventricular Contractions|Ventricular Beat, Premature|Ventricular Beats, Premature|Ventricular Complex, Premature|Ventricular Contraction, Premature|Ventricular Contractions, Premature|Ventricular Ectopic Beat|Ventricular Ectopic Beats|Ventricular Extrasystole|Ventricular Extrasystoles|Ventricular Premature Complex Cardiovascular disease|Pathology (process) Ventricular Remodeling MESH:D020257 The geometric and structural changes that the HEART VENTRICLES undergo, usually following MYOCARDIAL INFARCTION. It comprises expansion of the infarct and dilatation of the healthy ventricle segments. While most prevalent in the left ventricle, it can also occur in the right ventricle. MESH:D020763 C23.300.985 C23.300 Cardiac Remodelings, Ventricular|Cardiac Remodeling, Ventricular|Left Ventricle Remodeling|Left Ventricle Remodelings|Left Ventricular Remodeling|Left Ventricular Remodelings|Myocardial Remodelings, Ventricular|Myocardial Remodeling, Ventricular|Remodeling, Left Ventricle|Remodeling, Left Ventricular|Remodelings, Left Ventricle|Remodelings, Left Ventricular|Remodelings, Ventricle|Remodelings, Ventricular|Remodelings, Ventricular Cardiac|Remodelings, Ventricular Myocardial|Remodeling, Ventricle|Remodeling, Ventricular|Remodeling, Ventricular Cardiac|Remodeling, Ventricular Myocardial|Ventricle Remodeling|Ventricle Remodeling, Left|Ventricle Remodelings|Ventricle Remodelings, Left|Ventricular Cardiac Remodeling|Ventricular Cardiac Remodelings|Ventricular Myocardial Remodeling|Ventricular Myocardial Remodelings|Ventricular Remodeling, Left|Ventricular Remodelings|Ventricular Remodelings, Left Pathology (anatomical condition) Ventricular Septal Rupture MESH:D018658 Laceration or tearing of the VENTRICULAR SEPTUM, usually caused by MYOCARDIAL INFARCTION. MESH:D006342 C14.280.470.475.900 C14.280.470.475 Septal Ruptures, Ventricular|Septal Rupture, Ventricular|Ventricular Septal Perforation|Ventricular Septal Ruptures Cardiovascular disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY OMIM:604772 DO:DOID:0060675 MESH:C536334|MESH:D002311 C14.280.067.845.940/C536334/604772|C14.280.123.875.940/C536334/604772|C14.280.195.160/604772|C14.280.238.070/604772|C16.320.488.750/604772|C23.550.073.845.940/C536334/604772 C14.280.067.845.940/C536334|C14.280.123.875.940/C536334|C14.280.195.160|C14.280.238.070|C16.320.488.750|C23.550.073.845.940/C536334 CPVT1|VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC|VTSIP Cardiovascular disease|Genetic disease (inborn)|Pathology (process) VENTRICULAR TACHYCARDIA, FAMILIAL OMIM:192605 MESH:D017180 C14.280.067.845.940/192605|C14.280.123.875.940/192605|C23.550.073.845.940/192605 C14.280.067.845.940|C14.280.123.875.940|C23.550.073.845.940 VENTRICULAR TACHYCARDIA, FAMILIAL POLYMORPHIC Cardiovascular disease|Pathology (process) Ventriculomegaly With Defects Of The Radius And Kidney MESH:C566565 MESH:D006849 C10.228.140.602/C566565 C10.228.140.602 Nervous system disease Venular Insufficiency, Systemic MESH:C566004 MESH:D014689 C14.907.952/C566004 C14.907.952 Cardiovascular disease VERHEIJ SYNDROME OMIM:615583 MESH:D001848|MESH:D006130|MESH:D011596|MESH:D019465 C05.116.099/615583|C05.660.207/615583|C10.597.606.881/615583|C16.131.621.207/615583|C23.550.393/615583|C23.888.592.604.882/615583 C05.116.099|C05.660.207|C10.597.606.881|C16.131.621.207|C23.550.393|C23.888.592.604.882 CHROMOSOME 8q24.3 DELETION SYNDROME|VRJS Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Verloes Bourguignon syndrome MESH:C536538 MESH:D000567|MESH:D010009 C05.116.099.708/C536538|C07.650.800.295.250/C536538|C07.793.700.295.250/C536538|C16.131.850.800.295.250/C536538|C16.320.728/C536538 C05.116.099.708|C07.650.800.295.250|C07.793.700.295.250|C16.131.850.800.295.250|C16.320.728 Platyspondyly with amelogenesis imperfecta|Skeletal dysplasia with amelogenesis imperfecta and platyspondyly Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease Verloes Gillerot Fryns syndrome MESH:C536539 MESH:D001006|MESH:D008607|MESH:D012734 C06.198.050/C536539|C10.597.606.360/C536539|C12.050.351.875.253/C536539|C12.200.706.316/C536539|C12.800.316/C536539|C16.131.314.094/C536539|C16.131.939.316/C536539|C19.391.119/C536539|C23.888.592.604.646/C536539|F03.625.539/C536539 C06.198.050|C10.597.606.360|C12.050.351.875.253|C12.200.706.316|C12.800.316|C16.131.314.094|C16.131.939.316|C19.391.119|C23.888.592.604.646|F03.625.539 Cerebro-Acro-Visceral Early lethality multiplex syndrome Congenital abnormality|Digestive system disease|Endocrine system disease|Mental disorder|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Verloes Van Maldergem Marneffe syndrome MESH:C536540 MESH:D010009 C05.116.099.708/C536540|C16.320.728/C536540 C05.116.099.708|C16.320.728 Dominantly inherited bone dysplasia with severe eye involvement|Microspherophakia-metaphyseal dysplasia Genetic disease (inborn)|Musculoskeletal disease Verloove-Vanhorick Brubakk syndrome MESH:C536541 MESH:D000015|MESH:D006330|MESH:D007569|MESH:D009056|MESH:D011254 C05.500.460/C536541|C05.660.207.540.460/C536541|C07.320.440/C536541|C07.465.525/C536541|C07.650.500.460/C536541|C07.650.525/C536541|C12.050.703.726/C536541|C14.240.400/C536541|C14.280.400/C536541|C16.131.077/C536541|C16.131.240.400/C536541|C16.131.621.207.540.460/C536541|C16.131.850.500.460/C536541|C16.131.850.525/C536541 C05.500.460|C05.660.207.540.460|C07.320.440|C07.465.525|C07.650.500.460|C07.650.525|C12.050.703.726|C14.240.400|C14.280.400|C16.131.077|C16.131.240.400|C16.131.621.207.540.460|C16.131.850.500.460|C16.131.850.525 Cleft Limb Heart Malformation Syndrome|Cleft-Limb-Heart Malformation Syndrome|Verloove Vanhorick Brubakk syndrome Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease|Pregnancy complication Vertebral Artery Dissection MESH:D020217 Splitting of the vessel wall in the VERTEBRAL ARTERY. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the vertebral artery, aneurysm formation, or THROMBOEMBOLISM. Vertebral artery dissection is often associated with TRAUMA and injuries to the head-neck region but can occur spontaneously. MESH:D000094665|MESH:D020214 C10.228.140.300.350.875|C10.900.250.650|C14.907.055.448.750|C14.907.253.535.800|C26.915.200.600 C10.228.140.300.350|C10.900.250|C14.907.055.448|C14.907.253.535|C26.915.200 Artery Dissections, Vertebral|Artery Dissection, Vertebral|Dissecting Vertebral Artery Aneurysm|Dissections, Vertebral Artery|Dissection, Vertebral Artery|Spontaneous Vertebral Artery Dissection|Traumatic Vertebral Artery Dissection|Vertebral Artery Dissections|Vertebral Artery Dissection, Spontaneous|Vertebral Artery Dissection, Traumatic Cardiovascular disease|Nervous system disease|Wounds and injuries Vertebral body fusion overgrowth MESH:C536543 MESH:D001848|MESH:D006130|MESH:D019465 C05.116.099/C536543|C05.660.207/C536543|C16.131.621.207/C536543|C23.550.393/C536543 C05.116.099|C05.660.207|C16.131.621.207|C23.550.393 Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance Congenital abnormality|Musculoskeletal disease|Pathology (process) Vertebral fusion posterior lumbosacral blepharoptosis MESH:C536344 MESH:D000013|MESH:D001763 C11.338.204/C536344|C16.131/C536344 C11.338.204|C16.131 Congenital ptosis and posterior fusion of lumbosacral vertebrae|Familial posterior lumbosacral vertebral fusion and eyelid ptosis|Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis Congenital abnormality|Eye disease Vertebral Hypoplasia With Lumbar Kyphosis MESH:C566002 MESH:D007738 C05.116.900.800.500/C566002 C05.116.900.800.500 Musculoskeletal disease Vertebrobasilar Insufficiency MESH:D014715 DO:DOID:13003|DO:DOID:13095|DO:DOID:223 Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated. MESH:D002545 C10.228.140.300.150.956|C14.907.253.092.956 C10.228.140.300.150|C14.907.253.092 Artery Insufficiencies, Basilar|Artery Insufficiencies, Vertebral|Artery Insufficiency, Basilar|Artery Insufficiency, Vertebral|Artery Ischemia, Basilar|Artery Ischemias, Basilar|Artery Ischemias, Vertebral|Artery Ischemia, Vertebral|Artery Stenoses, Basilar|Artery Stenoses, Vertebral|Artery Stenosis, Basilar|Artery Stenosis, Vertebral|Basilar Artery Insufficiencies|Basilar Artery Insufficiency|Basilar Artery Ischemia|Basilar Artery Ischemias|Basilar Artery Stenoses|Basilar Artery Stenosis|Basilar Insufficiencies|Basilar Insufficiency|Dolichoectasias, Vertebrobasilar|Dolichoectasia, Vertebrobasilar|Insufficiencies, Basilar|Insufficiencies, Basilar Artery|Insufficiencies, Vertebral Artery|Insufficiencies, Vertebrobasilar|Insufficiencies, Vertebro-Basilar|Insufficiency, Basilar|Insufficiency, Basilar Artery|Insufficiency, Vertebral Artery|Insufficiency, Vertebrobasilar|Insufficiency, Vertebro-Basilar|Ischemia, Basilar Artery|Ischemias, Basilar Artery|Ischemias, Vertebral Artery|Ischemias, Vertebrobasilar|Ischemias, Vertebro-Basilar|Ischemia, Vertebral Artery|Ischemia, Vertebrobasilar|Ischemia, Vertebro-Basilar|Stenoses, Basilar Artery|Stenoses, Vertebral Artery|Stenosis, Basilar Artery|Stenosis, Vertebral Artery|Vertebral Artery Insufficiencies|Vertebral Artery Insufficiency|Vertebral Artery Ischemia|Vertebral Artery Ischemias|Vertebral Artery Stenoses|Vertebral Artery Stenosis|Vertebrobasilar Dolichoectasia|Vertebrobasilar Dolichoectasias|Vertebrobasilar Insufficiencies|Vertebro-Basilar Insufficiencies|Vertebro Basilar Insufficiency|Vertebro-Basilar Insufficiency|Vertebrobasilar Ischemia|Vertebro Basilar Ischemia|Vertebro-Basilar Ischemia|Vertebrobasilar Ischemias|Vertebro-Basilar Ischemias Cardiovascular disease|Nervous system disease VERTICAL TALUS, CONGENITAL OMIM:192950 DO:DOID:0111568 MESH:D005413 C05.330.488.655.250/192950|C05.330.495.681.250/192950|C05.660.585.512.380.813.250/192950|C16.131.621.585.512.500.681.250/192950 C05.330.488.655.250|C05.330.495.681.250|C05.660.585.512.380.813.250|C16.131.621.585.512.500.681.250 CVT|PES VALGUS, CONGENITAL CONVEX|ROCKER-BOTTOM FOOT Congenital abnormality|Musculoskeletal disease Vertigo MESH:D014717 DO:DOID:2479 An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1) MESH:D009461|MESH:D015837 C09.218.568.900.883|C10.597.951|C23.888.592.958 C09.218.568.900|C10.597|C23.888.592 Brainstem Vertigo|Brain Stem Vertigo|Brainstem Vertigos|Brain Stem Vertigos|Central Nervous System Origin Vertigo|Central Origin Vertigo|Central Origin Vertigos|CNS Origin Vertigo|CNS Origin Vertigos|Constant Vertigo|Constant Vertigos|Essential Vertigo|Essential Vertigos|Intermittant Vertigo|Intermittant Vertigos|Origin Vertigo, Central|Origin Vertigo, CNS|Origin Vertigos, Central|Origin Vertigos, CNS|Paroxysmal Vertigo|Paroxysmal Vertigos|Peripheral Vertigo|Peripheral Vertigos|Positional Vertigo|Sensation, Spinning|Sensations, Spinning|Spinning Sensation|Spinning Sensations|Subjective Vertigo|Subjective Vertigos|Vertigo, Brainstem|Vertigo, Brain Stem|Vertigo, Central Nervous System Origin|Vertigo, Central Origin|Vertigo, CNS Origin|Vertigo, Constant|Vertigo, Essential|Vertigo, Intermittant|Vertigo, Paroxysmal|Vertigo, Peripheral|Vertigo, Positional|Vertigos|Vertigos, Brainstem|Vertigos, Brain Stem|Vertigos, Central Origin|Vertigos, CNS Origin|Vertigos, Constant|Vertigos, Essential|Vertigos, Intermittant|Vertigos, Paroxysmal|Vertigos, Peripheral|Vertigos, Subjective|Vertigo, Subjective Ear-nose-throat disease|Nervous system disease|Signs and symptoms Vertigo, Benign Recurrent, 1 MESH:C567620 MESH:D065635 C09.218.568.900.883.500/C567620|C10.597.951.500/C567620|C23.888.592.958.500/C567620 C09.218.568.900.883.500|C10.597.951.500|C23.888.592.958.500 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Vertigo, Benign Recurrent, 2 MESH:C567749 OMIM:613106 MESH:D065635 C09.218.568.900.883.500/C567749|C10.597.951.500/C567749|C23.888.592.958.500/C567749 C09.218.568.900.883.500|C10.597.951.500|C23.888.592.958.500 BRV2 Ear-nose-throat disease|Nervous system disease|Signs and symptoms Vesico-Ureteral Reflux MESH:D014718 DO:DOID:9620|OMIM:193000|OMIM:613674|OMIM:615963 Retrograde flow of urine from the URINARY BLADDER into the URETER. This is often due to incompetence of the vesicoureteral valve. MESH:D001745 C12.050.351.968.829.920|C12.200.777.829.920|C12.950.829.920 C12.050.351.968.829|C12.200.777.829|C12.950.829 Grade1, Vesicoureteral Reflux|Primary Vesicoureteral Reflux|Reflux1, Vesicoureteral|Reflux, Primary Vesicoureteral|Reflux, Secondary Vesicoureteral|Reflux, Vesicoureteral|Reflux, Vesico-Ureteral|Secondary Vesicoureteral Reflux|Vesicoureteral Reflux|Vesico Ureteral Reflux|Vesicoureteral Reflux 1|Vesicoureteral Reflux1|Vesicoureteral Reflux1s|VESICOURETERAL REFLUX 3|VESICOURETERAL REFLUX 8|Vesicoureteral Reflux Grade1|Vesicoureteral Reflux, Primary|Vesicoureteral Reflux, Secondary|VUR|VUR1|VUR3|VUR8 Urogenital disease (female)|Urogenital disease (male) Vesicoureteral Reflux 2 MESH:C567053 OMIM:610878 MESH:D014718 C12.050.351.968.829.920/C567053|C12.200.777.829.920/C567053|C12.950.829.920/C567053 C12.050.351.968.829.920|C12.200.777.829.920|C12.950.829.920 VUR2 Urogenital disease (female)|Urogenital disease (male) Vesicoureteral Reflux, X-Linked MESH:C564042 MESH:D014718|MESH:D040181 C12.050.351.968.829.920/C564042|C12.200.777.829.920/C564042|C12.950.829.920/C564042|C16.320.322/C564042 C12.050.351.968.829.920|C12.200.777.829.920|C12.950.829.920|C16.320.322 Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Vesicovaginal Fistula MESH:D014719 An abnormal anatomical passage between the URINARY BLADDER and the VAGINA. MESH:D001747|MESH:D014624 C12.050.351.500.894.767.500|C12.050.351.875.881.312.733|C12.050.351.968.829.548.733|C12.100.250.894.767.500|C12.950.829.548.733|C23.300.575.825.250.775|C23.300.575.925.816 C12.050.351.500.894.767|C12.050.351.875.881.312|C12.050.351.968.829.548|C12.100.250.894.767|C12.950.829.548|C23.300.575.825.250|C23.300.575.925 Fistulae, Vesicovaginal|Fistulae, Vesico-Vaginal|Fistulas, Vesicovaginal|Fistulas, Vesico-Vaginal|Fistula, Vesicovaginal|Fistula, Vesico-Vaginal|Vesico Vaginal Fistula|Vesico-Vaginal Fistula|Vesicovaginal Fistulae|Vesico Vaginal Fistulae|Vesico-Vaginal Fistulae|Vesicovaginal Fistulas|Vesico-Vaginal Fistulas Pathology (anatomical condition)|Urogenital disease (female) Vesicular Exanthema of Swine MESH:D014720 A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia. MESH:D013553|MESH:D017250 C01.925.782.160.927|C22.905.927 C01.925.782.160|C22.905 Swine Vesicular Exanthema|Swine Vesicular Exanthemas Animal disease|Viral disease Vesicular Stomatitis MESH:D054243 A viral disease caused by at least two distinct species (serotypes) in the VESICULOVIRUS genus: VESICULAR STOMATITIS INDIANA VIRUS and VESICULAR STOMATITIS NEW JERSEY VIRUS. It is characterized by vesicular eruptions on the ORAL MUCOSA in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness. MESH:D000820|MESH:D013280|MESH:D018353 C01.925.782.580.830.825|C07.465.864.968|C22.952 C01.925.782.580.830|C07.465.864|C22 Stomatitides, Vesicular|Stomatitis, Vesicular|Vesicular Stomatitides Animal disease|Mouth disease|Viral disease Vestibular Diseases MESH:D015837 DO:DOID:3426 Pathological processes of the VESTIBULAR LABYRINTH which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. MESH:D007759 C09.218.568.900 C09.218.568 Diseases, Vestibular|Disease, Vestibular|Vestibular Disease Ear-nose-throat disease Vestibular Neuronitis MESH:D020338 DO:DOID:12683 Idiopathic inflammation of the VESTIBULAR NERVE, characterized clinically by the acute or subacute onset of VERTIGO; NAUSEA; and imbalance. The COCHLEAR NERVE is typically spared and HEARING LOSS and TINNITUS do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304) MESH:D000160 C09.218.807.800.837|C10.292.910.850 C09.218.807.800|C10.292.910 Acute Peripheral Vestibulopathies|Acute Peripheral Vestibulopathy|Acute Vestibular Neuritides|Acute Vestibular Neuritis|Epidemic Neurolabyrinthitides|Epidemic Neurolabyrinthitis|Episodic Recurrent Vertigo|Episodic Recurrent Vertigos|Inflammations, Vestibular Nerve|Inflammation, Vestibular Nerve|Nerve Inflammations, Vestibular|Nerve Inflammation, Vestibular|Nerve Neuritides, Vestibular|Nerve Neuritis, Vestibular|Neuritides, Acute Vestibular|Neuritides, Recurrent Vestibular|Neuritides, Subacute Vestibular|Neuritides, Vestibular|Neuritides, Vestibular Nerve|Neuritis, Acute Vestibular|Neuritis, Recurrent Vestibular|Neuritis, Subacute Vestibular|Neuritis, Vestibular|Neuritis, Vestibular Nerve|Neurolabyrinthitides, Epidemic|Neurolabyrinthitis, Epidemic|Neuronitides, Vestibular|Neuronitis, Vestibular|Neuropathies, Vestibular|Neuropathy, Vestibular|Peripheral Vestibulopathies, Acute|Peripheral Vestibulopathy, Acute|Recurrent Vertigo, Episodic|Recurrent Vertigos, Episodic|Recurrent Vestibular Neuritides|Recurrent Vestibular Neuritis|Recurrent Vestibulopathies|Recurrent Vestibulopathy|Subacute Vestibular Neuritides|Subacute Vestibular Neuritis|Vertigo, Episodic Recurrent|Vertigos, Episodic Recurrent|Vestibular Nerve Inflammation|Vestibular Nerve Inflammations|Vestibular Nerve Neuritides|Vestibular Nerve Neuritis|Vestibular Neuritides|Vestibular Neuritides, Acute|Vestibular Neuritides, Recurrent|Vestibular Neuritides, Subacute|Vestibular Neuritis|Vestibular Neuritis, Acute|Vestibular Neuritis, Recurrent|Vestibular Neuritis, Subacute|Vestibular Neuronitides|Vestibular Neuropathies|Vestibular Neuropathy|Vestibulopathies, Acute Peripheral|Vestibulopathies, Recurrent|Vestibulopathy, Acute Peripheral|Vestibulopathy, Recurrent Ear-nose-throat disease|Nervous system disease Vestibulocochlear Dysfunction, Progressive MESH:C536346 MESH:D000160 C09.218.807.800/C536346|C10.292.910/C536346 C09.218.807.800|C10.292.910 Familial progressive vestibulo-cochlear dysfunction|Familial progressive vestibulocochlear dysfunction|Vestibulocochlear dysfunction progressive familial Ear-nose-throat disease|Nervous system disease Vestibulocochlear Nerve Diseases MESH:D000160 DO:DOID:12657 Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS. MESH:D003389|MESH:D012181 C09.218.807.800|C10.292.910 C09.218.807|C10.292 Acoustic Nerve Disease|Acoustic Nerve Diseases|Acoustic Nerve Disorder|Acoustic Nerve Disorders|Cochlear Nerve Disease|Cochlear Nerve Diseases|Cochlear Nerve Disorder|Cochlear Nerve Disorders|Cochlear Neuritides|Cochlear Neuritis|Cranial Nerve VIII Diseases|Cranial Nerve VIII Disorders|Eighth Cranial Nerve Diseases|Neuritides, Cochlear|Neuritis, Cochlear|Vestibular Nerve Disease|Vestibular Nerve Diseases|Vestibular Nerve Disorder|Vestibular Nerve Disorders|Vestibulocochlear Nerve Disease Ear-nose-throat disease|Nervous system disease Vestibulocochlear Nerve Injuries MESH:D061285 Traumatic injuries to the VESTIBULOCOCHLEAR NERVE. MESH:D000160|MESH:D020209 C09.218.807.800.918|C10.292.200.968|C10.292.910.925|C10.900.300.218.943|C26.915.300.400.956 C09.218.807.800|C10.292.200|C10.292.910|C10.900.300.218|C26.915.300.400 Avulsions, Vestibulocochlear Nerve|Avulsion, Vestibulocochlear Nerve|Contusions, Vestibulocochlear Nerve|Contusion, Vestibulocochlear Nerve|Cranial Nerve VIII Injury|Eighth Cranial Nerve Injuries|Eighth Cranial Nerve Injury|Eighth-Nerve Palsies, Traumatic|Eighth Nerve Palsy, Traumatic|Eighth-Nerve Palsy, Traumatic|Eighth Nerve Trauma|Eighth-Nerve Trauma|Eighth-Nerve Traumas|Injuries, Vestibulocochlear Nerve|Injury, Cranial Nerve VIII|Injury, Eighth Cranial Nerve|Injury, Vestibulocochlear Nerve|Nerve Avulsions, Vestibulocochlear|Nerve Avulsion, Vestibulocochlear|Nerve Contusions, Vestibulocochlear|Nerve Contusion, Vestibulocochlear|Nerve Injuries, Vestibulocochlear|Nerve Injury, Vestibulocochlear|Nerve Transections, Vestibulocochlear|Nerve Transection, Vestibulocochlear|Nerve Traumas, Vestibulocochlear|Nerve Trauma, Vestibulocochlear|Neuropathies, Traumatic Vestibulocochlear|Neuropathy, Traumatic Vestibulocochlear|Palsies, Traumatic Eighth-Nerve|Palsy, Traumatic Eighth-Nerve|Transections, Vestibulocochlear Nerve|Transection, Vestibulocochlear Nerve|Trauma, Eighth-Nerve|Traumas, Eighth-Nerve|Traumas, Vestibulocochlear Nerve|Traumatic Eighth-Nerve Palsies|Traumatic Eighth Nerve Palsy|Traumatic Eighth-Nerve Palsy|Traumatic Vestibulocochlear Neuropathies|Traumatic Vestibulocochlear Neuropathy|Trauma, Vestibulocochlear Nerve|Vestibulocochlear Nerve Avulsion|Vestibulocochlear Nerve Avulsions|Vestibulocochlear Nerve Contusion|Vestibulocochlear Nerve Contusions|Vestibulocochlear Nerve Injury|Vestibulocochlear Nerve Transection|Vestibulocochlear Nerve Transections|Vestibulocochlear Nerve Trauma|Vestibulocochlear Nerve Traumas|Vestibulocochlear Neuropathies, Traumatic|Vestibulocochlear Neuropathy, Traumatic Ear-nose-throat disease|Nervous system disease|Wounds and injuries VEXAS syndrome MESH:C000721467 MESH:D009190|MESH:D012873 C15.378.190.625/C000721467|C16.320.850/C000721467|C17.800.827/C000721467 C15.378.190.625|C16.320.850|C17.800.827 vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome|VEXAS Blood disease|Genetic disease (inborn)|Skin disease Vibratory angioedema MESH:C536347 MESH:D000094482|MESH:D006969 C17.800.862.945.533.500/C536347|C20.543.480.904.533.500/C536347|C20.543.480/C536347|C23.550.291.500.360.500/C536347 C17.800.862.945.533.500|C20.543.480|C20.543.480.904.533.500|C23.550.291.500.360.500 Angioedema, vibratory Immune system disease|Pathology (process)|Skin disease Vibrio Infections MESH:D014735 Infections with bacteria of the genus VIBRIO. MESH:D016905 C01.150.252.400.959 C01.150.252.400 Infections, Vibrio|Infection, Vibrio|Vibrio Illness|Vibrio Illnesses|Vibrio Infection|Vibrioses|Vibriosis Bacterial infection or mycosis Vibrio vulnificus infection MESH:C536348 MESH:D014735 C01.150.252.400.959/C536348 C01.150.252.400.959 Bacterial infection or mycosis Viljoen Kallis Voges syndrome MESH:C536349 MESH:D006130|MESH:D008607|MESH:D017880|MESH:D019465 C05.660.207/C536349|C05.660.585/C536349|C10.597.606.360/C536349|C16.131.621.207/C536349|C16.131.621.585/C536349|C23.550.393/C536349|C23.888.592.604.646/C536349|F03.625.539/C536349 C05.660.207|C05.660.585|C10.597.606.360|C16.131.621.207|C16.131.621.585|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Vipoma MESH:D003969 DO:DOID:5574|DO:DOID:6977 A tumor that secretes VASOACTIVE INTESTINAL PEPTIDE, a neuropeptide that causes VASODILATION; relaxation of smooth muscles; watery DIARRHEA; HYPOKALEMIA; and HYPOCHLORHYDRIA. Vipomas, derived from the pancreatic ISLET CELLS, generally are malignant and can secrete other hormones. In most cases, Vipomas are located in the PANCREAS but can be found in extrapancreatic sites. MESH:D018273|MESH:D018278 C04.557.465.625.650.240.847|C04.557.470.200.025.370.847|C04.588.274.761.500.750|C04.588.322.475.500.750|C06.301.761.500.750|C06.689.667.500.750|C19.344.421.500.750 C04.557.465.625.650.240|C04.557.470.200.025.370|C04.588.274.761.500|C04.588.322.475.500|C06.301.761.500|C06.689.667.500|C19.344.421.500 Cholera, Pancreatic|Diarrheogenic Islet Cell Tumor|Diarrheogenic Tumor|Diarrheogenic Tumors|Pancreatic Cholera|Pancreatic VIPoma|Pancreatic VIPomas|Syndrome, Verner-Morrison|Syndrome, Vipoma|Tumor, Diarrheogenic|Tumors, Diarrheogenic|Tumors, VIP-Secreting (VIPoma)|Tumor, VIP-Secreting (VIPoma)|Vasoactive Intestinal Peptide Producing Tumor|Vasoactive Intestinal Peptide-Producing Tumor|Vasoactive Intestinal Peptide (VIP) Tumor|Verner Morrison Syndrome|Verner-Morrison Syndrome|VIPoma, Pancreatic|Vipomas|VIPomas, Pancreatic|Vipoma Syndrome|VIP-Secreting Tumors (VIPoma)|VIP Secreting Tumor (VIPoma)|VIP-Secreting Tumor (VIPoma)|Watery Diarrhea, Hypokalemia, and Achlorhydria Syndrome|Watery Diarrhea Syndrome|Watery Diarrhea with Hypokalemic Alkalosis|WDHA|WDHA Syndrome|WDHA Syndromes|WDHH Cancer|Digestive system disease|Endocrine system disease Viral Zoonoses MESH:D000086965 Viral infections that may be transmitted between non-human animals and HUMANS. MESH:D014777|MESH:D015047 C01.925.933|C01.973.500|C22.969.500 C01.925|C01.973|C22.969 Diseases, Viral Zoonotic|Disease, Viral Zoonotic|Infections, Viral Zoonotic|Infections, Zoonotic Viral|Infection, Viral Zoonotic|Infection, Zoonotic Viral|Viral Infections, Zoonotic|Viral Infection, Zoonotic|Viral Zoonose|Viral Zoonosis|Viral Zoonotic Disease|Viral Zoonotic Diseases|Viral Zoonotic Infection|Viral Zoonotic Infections|Viral Zoonotic Spillover|Viral Zoonotic Spillovers|Zoonoses, Viral|Zoonose, Viral|Zoonosis, Viral|Zoonotic Diseases, Viral|Zoonotic Disease, Viral|Zoonotic Infections, Viral|Zoonotic Infection, Viral|Zoonotic Spillovers, Viral|Zoonotic Spillover, Viral|Zoonotic Viral Infection|Zoonotic Viral Infections Animal disease|Viral disease Viremia MESH:D014766 The presence of viruses in the blood. MESH:D014777|MESH:D018805 C01.925.937|C23.550.470.790.500.900 C01.925|C23.550.470.790.500 Viremias Pathology (process)|Viral disease Virilism MESH:D014770 Development of male secondary SEX CHARACTERISTICS in the FEMALE. It is due to the effects of androgenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs. MESH:D012816 C23.888.971 C23.888 Androgenization|Virilization Signs and symptoms Virus Diseases MESH:D014777 DO:DOID:934 A general term for diseases caused by viruses. MESH:D007239 C01.925 C01 Diseases, Viral|Diseases, Virus|Disease, Viral|Disease, Virus|Infections, Viral|Infections, Virus|Infection, Viral|Infection, Virus|Viral Disease|Viral Diseases|Viral Infection|Viral Infections|Virus Disease|Virus Infection|Virus Infections Viral disease VISCERAL MYOPATHY 1 OMIM:155310 DO:DOID:0060610 MESH:C536138|MESH:C562574 C06.405.469.531.492.500/C536138/155310|C06.405.469.531.492.500/C562574/155310|C16.131.077/C536138/155310 C06.405.469.531.492.500/C536138|C06.405.469.531.492.500/C562574|C16.131.077/C536138 MEGADUODENUM AND/OR MEGACYSTIS|PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL|VISCERAL MYOPATHY|VSCM|VSCM1 Congenital abnormality|Digestive system disease Visceral Myopathy, Familial MESH:C562574 MESH:D007418 C06.405.469.531.492.500/C562574 C06.405.469.531.492.500 Digestive system disease Visceral myopathy familial external ophthalmoplegia MESH:C536350 DO:DOID:0070331|DO:DOID:0080119|DO:DOID:0080127 MESH:D007418|MESH:D009886|MESH:D039141 C05.651.534.500.450/C536350|C06.405.469.531.492.500/C536350|C10.292.562.750/C536350|C10.597.622.447/C536350|C10.668.491.175.500.450/C536350|C11.590.472/C536350|C16.320.577.450/C536350|C23.888.592.636.447/C536350 C05.651.534.500.450|C06.405.469.531.492.500|C10.292.562.750|C10.597.622.447|C10.668.491.175.500.450|C11.590.472|C16.320.577.450|C23.888.592.636.447 Intestinal pseudoobstruction with external ophthalmoplegia|Mitochondrial DNA Depletion Syndrome 1|Mitochondrial DNA Depletion Syndrome 8A|Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy, Autosomal Recessive|Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction|Mitochondrial Neurogastrointestinal Encephalopathy Disease|Mitochondrial neurogastrointestinal encephalopathy syndrome|Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related|MNGIE Disease|Mngie, Rrm2b-Related|MNGIE Syndrome|Mngie Without Leukoencephalopathy|Muscular dystrophy, oculogastrointestinal|Myoneurogastrointestinal encephalopathy syndrome|Oculogastrointestinal Muscular Dystrophy|POLIP Syndrome|Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction|Thymidine Phosphorylase Deficiency|Visceral Myopathy, Familial, With External Ophthalmoplegia Digestive system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms Visceral Neuropathy, Familial, Autosomal Dominant MESH:C566502 MESH:D007418 C06.405.469.531.492.500/C566502 C06.405.469.531.492.500 Enteric Neuropathy, Familial|Pseudoobstruction, Chronic Intestinal, Neuropathic|Pseudoobstruction, Idiopathic Intestinal Digestive system disease Visceral Pain MESH:D059265 Pain originating from internal organs (VISCERA) associated with autonomic phenomena (PALLOR; SWEATING; NAUSEA; and VOMITING). It often becomes a REFERRED PAIN. MESH:D059226 C23.888.592.612.720.500 C23.888.592.612.720 Pains, Visceral|Pain, Visceral|Visceral Pains Signs and symptoms Visceral Prolapse MESH:D014782 The prolapse or downward displacement of the VISCERA. MESH:D005767|MESH:D056887 C06.405.937|C23.300.842.624.875 C06.405|C23.300.842.624 Prolapse, Visceral|Splanchnoptosis|Visceroptosis Digestive system disease|Pathology (anatomical condition) Visceral Steatosis, Congenital MESH:C536351 OMIM:228100 MESH:D005234 C06.552.241/C536351 C06.552.241 Fatal neonatal hepatic steatosis|Fatty Liver Disease, Congenital|FATTY METAMORPHOSIS OF VISCERA|STEATOSIS OF LIVER|White liver disease Digestive system disease Vision Disorders MESH:D014786 Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132). MESH:D005128|MESH:D012678 C10.597.751.941|C11.966|C23.888.592.763.941 C10.597.751|C11|C23.888.592.763 Blindness, Day|Day Blindness|Disabilities, Vision|Disability, Vision|Disorders, Visual|Disorder, Visual|Hemeralopia|Hemeralopias|Impairments, Visual|Impairment, Visual|Macropsia|Macropsias|Metamorphopsia|Metamorphopsias|Micropsia|Micropsias|Vision Disabilities|Vision Disability|Vision Disorder|Visual Disorder|Visual Disorders|Visual Impairment|Visual Impairments Eye disease|Nervous system disease|Signs and symptoms Vision, Low MESH:D015354 Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.). MESH:D014786 C10.597.751.941.905|C11.966.905|C23.888.592.763.941.848 C10.597.751.941|C11.966|C23.888.592.763.941 Diminished Vision|Low Vision|Reduced Vision|Subnormal Vision|Vision, Diminished|Vision, Reduced|Vision, Subnormal Eye disease|Nervous system disease|Signs and symptoms Visna MESH:D016182 Demyelinating leukoencephalomyelitis of sheep caused by the VISNA-MAEDI VIRUS. It is similar to but not the same as SCRAPIE. MESH:D012757|MESH:D012897|MESH:D016180 C01.925.782.815.616.900|C01.925.839.900|C22.836.900 C01.925.782.815.616|C01.925.839|C22.836 Encephalomyelitides, Ovine|Encephalomyelitis, Ovine|Ovine Encephalomyelitides|Ovine Encephalomyelitis|Visnas Animal disease|Viral disease visual snow syndrome MESH:C000726567 MESH:D010468|MESH:D014786 C10.597.606.762/C000726567|C10.597.751.941/C000726567|C11.966/C000726567|C23.888.592.604.764/C000726567|C23.888.592.763.941/C000726567 C10.597.606.762|C10.597.751.941|C11.966|C23.888.592.604.764|C23.888.592.763.941 visual snow Eye disease|Nervous system disease|Signs and symptoms Vitamin A Deficiency MESH:D014802 A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179) MESH:D001361 C18.654.521.500.133.628 C18.654.521.500.133 Deficiencies, Vitamin A|Deficiency, Vitamin A|Vitamin A Deficiencies Nutrition disorder Vitamin B 12 Deficiency MESH:D014806 DO:DOID:0050731 A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848) MESH:D014804 C18.654.521.500.133.699.923 C18.654.521.500.133.699 Deficiencies, Vitamin B12|Deficiency, Vitamin B 12|Deficiency, Vitamin B12|Vitamin B12 Deficiencies|Vitamin B12 Deficiency Nutrition disorder VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 OMIM:612542 MESH:D014806 C18.654.521.500.133.699.923/612542 C18.654.521.500.133.699.923 B12QTL1 Nutrition disorder Vitamin B 6 Deficiency MESH:D026681 DO:DOID:8455 A nutritional condition produced by a deficiency of VITAMIN B 6 in the diet, characterized by dermatitis, glossitis, cheilosis, and stomatitis. Marked deficiency causes irritability, weakness, depression, dizziness, peripheral neuropathy, and seizures. In infants and children typical manifestations are diarrhea, anemia, and seizures. Deficiency can be caused by certain medications, such as isoniazid. MESH:D014804 C18.654.521.500.133.699.901 C18.654.521.500.133.699 B6 Deficiencies, Vitamin|B6 Deficiency, Vitamin|B6 Vitamin Deficiencies|B6 Vitamin Deficiency|Deficiencies, B6 Vitamin|Deficiencies, Vitamin B6|Deficiency, B6 Vitamin|Deficiency, Pyridoxine|Deficiency, Vitamin B 6|Deficiency, Vitamin B6|Pyridoxine Deficiency|Vitamin B6 Deficiencies|Vitamin B6 Deficiency|Vitamin Deficiencies, B6|Vitamin Deficiency, B6 Nutrition disorder Vitamin B Deficiency MESH:D014804 A condition due to deficiency in any member of the VITAMIN B COMPLEX. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. MESH:D001361 C18.654.521.500.133.699 C18.654.521.500.133 Deficiencies, Vitamin B|Deficiency, Vitamin B|Vitamin B Deficiencies Nutrition disorder Vitamin D Deficiency MESH:D014808 A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406) MESH:D001361 C18.654.521.500.133.770 C18.654.521.500.133 Deficiencies, Vitamin D|Deficiency, Vitamin D|Vitamin D Deficiencies Nutrition disorder Vitamin D-Dependent Rickets, Type 2A MESH:C562794 OMIM:277440 MESH:D053098 C05.116.198.816.875.500/C562794|C12.050.351.968.419.815.647.500/C562794|C12.200.777.419.815.647.500/C562794|C12.950.419.815.647.500/C562794|C16.320.565.618.544.500/C562794|C16.320.831.647.500/C562794|C18.452.104.816.875.500/C562794|C18.452.174.845.875.500/C562794|C18.452.648.618.544.500/C562794|C18.452.750.400.500.500/C562794|C18.452.750.400.750.500/C562794|C18.654.521.500.133.770.734.875.500/C562794 C05.116.198.816.875.500|C12.050.351.968.419.815.647.500|C12.200.777.419.815.647.500|C12.950.419.815.647.500|C16.320.565.618.544.500|C16.320.831.647.500|C18.452.104.816.875.500|C18.452.174.845.875.500|C18.452.648.618.544.500|C18.452.750.400.500.500|C18.452.750.400.750.500|C18.654.521.500.133.770.734.875.500 GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D|HVDRR|HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS|PDDR IIA|Pseudovitamin D-Deficiency, Type IIA|Rickets-Alopecia Syndrome|RICKETS, HEREDITARY VITAMIN D-RESISTANT|VDDR2A|VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA|VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nutrition disorder|Urogenital disease (female)|Urogenital disease (male) Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor MESH:C567571 MESH:D053098 C05.116.198.816.875.500/C567571|C12.050.351.968.419.815.647.500/C567571|C12.200.777.419.815.647.500/C567571|C12.950.419.815.647.500/C567571|C16.320.565.618.544.500/C567571|C16.320.831.647.500/C567571|C18.452.104.816.875.500/C567571|C18.452.174.845.875.500/C567571|C18.452.648.618.544.500/C567571|C18.452.750.400.500.500/C567571|C18.452.750.400.750.500/C567571|C18.654.521.500.133.770.734.875.500/C567571 C05.116.198.816.875.500|C12.050.351.968.419.815.647.500|C12.200.777.419.815.647.500|C12.950.419.815.647.500|C16.320.565.618.544.500|C16.320.831.647.500|C18.452.104.816.875.500|C18.452.174.845.875.500|C18.452.648.618.544.500|C18.452.750.400.500.500|C18.452.750.400.750.500|C18.654.521.500.133.770.734.875.500 VDDR2B Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nutrition disorder|Urogenital disease (female)|Urogenital disease (male) Vitamin D Hydroxylation-Deficient Rickets, Type 1A MESH:C562688 OMIM:264700 MESH:D053098 C05.116.198.816.875.500/C562688|C12.050.351.968.419.815.647.500/C562688|C12.200.777.419.815.647.500/C562688|C12.950.419.815.647.500/C562688|C16.320.565.618.544.500/C562688|C16.320.831.647.500/C562688|C18.452.104.816.875.500/C562688|C18.452.174.845.875.500/C562688|C18.452.648.618.544.500/C562688|C18.452.750.400.500.500/C562688|C18.452.750.400.750.500/C562688|C18.654.521.500.133.770.734.875.500/C562688 C05.116.198.816.875.500|C12.050.351.968.419.815.647.500|C12.200.777.419.815.647.500|C12.950.419.815.647.500|C16.320.565.618.544.500|C16.320.831.647.500|C18.452.104.816.875.500|C18.452.174.845.875.500|C18.452.648.618.544.500|C18.452.750.400.500.500|C18.452.750.400.750.500|C18.654.521.500.133.770.734.875.500 1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective|1-Alpha-Hydroxylase Deficiency|25-Hydroxycholecalciferol-1-Hydroxylase Deficiency|PDDR1A|PDDR IA|Pseudovitamin D-Deficiency Rickets, Type IA|VDD1|VDDR1A|Vitamin D Dependency, Type 1|Vitamin D-Dependent Rickets, Type 1A Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nutrition disorder|Urogenital disease (female)|Urogenital disease (male) Vitamin D Hydroxylation-Deficient Rickets, Type 1B MESH:C564005 OMIM:600081 MESH:D053098 C05.116.198.816.875.500/C564005|C12.050.351.968.419.815.647.500/C564005|C12.200.777.419.815.647.500/C564005|C12.950.419.815.647.500/C564005|C16.320.565.618.544.500/C564005|C16.320.831.647.500/C564005|C18.452.104.816.875.500/C564005|C18.452.174.845.875.500/C564005|C18.452.648.618.544.500/C564005|C18.452.750.400.500.500/C564005|C18.452.750.400.750.500/C564005|C18.654.521.500.133.770.734.875.500/C564005 C05.116.198.816.875.500|C12.050.351.968.419.815.647.500|C12.200.777.419.815.647.500|C12.950.419.815.647.500|C16.320.565.618.544.500|C16.320.831.647.500|C18.452.104.816.875.500|C18.452.174.845.875.500|C18.452.648.618.544.500|C18.452.750.400.500.500|C18.452.750.400.750.500|C18.654.521.500.133.770.734.875.500 25-Hydroxyvitamin D3 Deficiency, Selective|Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency|VDDR1B|Vitamin D-Dependent Rickets, Type 1B Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nutrition disorder|Urogenital disease (female)|Urogenital disease (male) Vitamin E Deficiency MESH:D014811 A nutritional condition produced by a deficiency of VITAMIN E in the diet, characterized by posterior column and spinocerebellar tract abnormalities, areflexia, ophthalmoplegia, and disturbances of gait, proprioception, and vibration. In premature infants vitamin E deficiency is associated with hemolytic anemia, thrombocytosis, edema, intraventricular hemorrhage, and increasing risk of retrolental fibroplasia and bronchopulmonary dysplasia. An apparent inborn error of vitamin E metabolism, named familial isolated vitamin E deficiency, has recently been identified. (Cecil Textbook of Medicine, 19th ed, p1181) MESH:D001361 C18.654.521.500.133.841 C18.654.521.500.133 Deficiencies, Vitamin E|Deficiency, Vitamin E|Vitamin E Deficiencies Nutrition disorder Vitamin K Deficiency MESH:D014813 DO:DOID:11249 A nutritional condition produced by a deficiency of VITAMIN K in the diet, characterized by an increased tendency to hemorrhage (HEMORRHAGIC DISORDERS). Such bleeding episodes may be particularly severe in newborn infants. (From Cecil Textbook of Medicine, 19th ed, p1182) MESH:D001361|MESH:D001778|MESH:D006474 C15.378.100.920|C15.378.463.841|C18.654.521.500.133.912 C15.378.100|C15.378.463|C18.654.521.500.133 Deficiencies, Vitamin K|Deficiency, Vitamin K|Vitamin K Deficiencies Blood disease|Nutrition disorder Vitamin K Deficiency Bleeding MESH:D006475 Hemorrhage caused by vitamin K deficiency. MESH:D007228|MESH:D007232|MESH:D014813 C15.378.100.920.360|C15.378.463.841.464|C16.614.940|C18.654.422.360|C18.654.521.500.133.912.360 C15.378.100.920|C15.378.463.841|C16.614|C18.654.422|C18.654.521.500.133.912 Hemorrhagic Disease of Newborn|Newborn Hemorrhagic Disease|Newborn Hemorrhagic Diseases Blood disease|Infant-newborn disease|Nutrition disorder Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 MESH:C564741 DO:DOID:0112173|OMIM:277450 MESH:D025861 C15.378.100.100/C564741|C16.320.099/C564741 C15.378.100.100|C16.320.099 Factors II, VII, IX, And X, Combined Deficiency Of|Familial Multiple Coagulation Factor Deficiency III|FMFD III|Glutamic Acid, Deficient Gamma-Carboxylation Of|MCFD3|Multiple Coagulation Factor Deficiency III|Vitamin K-Dependent Coagulation Defect|VKCFD|VKCFD1 Blood disease|Genetic disease (inborn) VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 OMIM:607473 DO:DOID:0112174 MESH:D020147 C15.378.100.141/607473 C15.378.100.141 VKCFD2 Blood disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2 MESH:C564393 DO:DOID:0112174 MESH:D025861 C15.378.100.100/C564393|C16.320.099/C564393 C15.378.100.100|C16.320.099 VKCFD2 Blood disease|Genetic disease (inborn) Vitelliform Macular Dystrophy MESH:D057826 DO:DOID:0050661|OMIM:153700|OMIM:608161|OMIM:616151|OMIM:616152 Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel. MESH:D008268|MESH:D015785 C11.768.585.439.433|C16.320.290.763 C11.768.585.439|C16.320.290 Adult-Onset Foveomacular Dystrophies|Adult-Onset Foveomacular Dystrophy|Adult Onset Vitelliform Macular Dystrophy|Adult-Onset Vitelliform Macular Dystrophy|AOFMD|AVMD|Best Disease|Best Macular Dystrophy|Best's Disease|Best Vitelliform Macular Dystrophy|BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL|BMD|Disease, Best|Disease, Best's|Dystrophies, Adult-Onset Foveomacular|Dystrophies, Vitelliform Macular|Dystrophy, Adult-Onset Foveomacular|Dystrophy, Best Macular|Dystrophy, Vitelliform Macular|Foveomacular Dystrophies, Adult-Onset|Foveomacular Dystrophy, Adult Onset|Foveomacular Dystrophy, Adult-Onset|Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization|FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION|Juvenile Onset Vitelliform Macular Dystrophy|Juvenile-Onset Vitelliform Macular Dystrophy|Macular Degeneration, Polymorphic Vitelline|Macular Dystrophies, Vitelliform|Macular Dystrophy, Best|Macular Dystrophy, Vitelliform|MACULAR DYSTROPHY, VITELLIFORM, 2|MACULAR DYSTROPHY, VITELLIFORM, 3|MACULAR DYSTROPHY, VITELLIFORM, 4|MACULAR DYSTROPHY, VITELLIFORM, 5|Macular Dystrophy, Vitelliform, Adult-Onset|Vitelliform Dystrophy|Vitelliform Macular Dystrophies|Vitelliform Macular Dystrophy, Adult Onset|Vitelliform Macular Dystrophy, Adult-Onset|Vitelliform Macular Dystrophy, Early Onset|Vitelliform Macular Dystrophy, Early-Onset|Vitelliform Macular Dystrophy, Juvenile Onset|Vitelliform Macular Dystrophy, Juvenile-Onset|Vitelliform Macular Dystrophy Type 2|VMD2|VMD3|VMD4|VMD5 Eye disease|Genetic disease (inborn) Vitiligo MESH:D014820 DO:DOID:12306 A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached. MESH:D017496 C17.800.621.440.895 C17.800.621.440 Skin disease VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 OMIM:606579 MESH:D001327|MESH:D014820 C17.800.621.440.895/606579|C20.111/606579 C17.800.621.440.895|C20.111 SLEV1|SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED|VAMAS1|VITILIGO|VTLG Immune system disease|Skin disease VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 OMIM:193200 DO:DOID:12306 MESH:D001327|MESH:D014820 C17.800.621.440.895/193200|C20.111/193200 C17.800.621.440.895|C20.111 VAMAS6 Immune system disease|Skin disease Vitiligo, Progressive, with Mental Retardation and Urethral Duplication MESH:C564739 MESH:D008607|MESH:D012873|MESH:D014820 C10.597.606.360/C564739|C16.320.850/C564739|C17.800.621.440.895/C564739|C17.800.827/C564739|C23.888.592.604.646/C564739|F03.625.539/C564739 C10.597.606.360|C16.320.850|C17.800.621.440.895|C17.800.827|C23.888.592.604.646|F03.625.539 Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Vitreoretinochoroidopathy MESH:C536352 DO:DOID:0111569|OMIM:193220 MESH:D012162|MESH:D015785|MESH:D015862 C11.270.612/C536352|C11.270/C536352|C11.768.585/C536352|C11.941.160/C536352|C16.320.290/C536352 C11.270|C11.270.612|C11.768.585|C11.941.160|C16.320.290 ADVIRC|Autosomal dominant Vitreoretinochoroidopathy|Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma|MRCS2, INCLUDED|Vitreoretinochoroidopathy, Autosomal Dominant|Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos|VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 2, INCLUDED|Vitreoretinochoroidopathy dominant|Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract|VRCP Eye disease|Genetic disease (inborn) VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY OMIM:193235 DO:DOID:9719 MESH:D018630 C11.768.890/193235 C11.768.890 ADNIV|PROLIFERATIVE VITREORETINOPATHY|PVR|VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, AUTOSOMAL DOMINANT|VRNI Eye disease Vitreoretinopathy, Proliferative MESH:D018630 DO:DOID:9719 Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes. MESH:D012164 C11.768.890 C11.768 Inflammatories, Vitreoretinopathy Neovascular|Inflammatory, Vitreoretinopathy Neovascular|Neovascular Inflammatories, Vitreoretinopathy|Neovascular Inflammatory, Vitreoretinopathy|Proliferative Vitreoretinopathies|Proliferative Vitreoretinopathy|Vitreoretinopathies, Proliferative|Vitreoretinopathy Neovascular Inflammatories|Vitreoretinopathy Neovascular Inflammatory Eye disease Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia MESH:C565179 MESH:D010009|MESH:D012164|MESH:D015785 C05.116.099.708/C565179|C11.270/C565179|C11.768/C565179|C16.320.290/C565179|C16.320.728/C565179 C05.116.099.708|C11.270|C11.768|C16.320.290|C16.320.728 Eye disease|Genetic disease (inborn)|Musculoskeletal disease Vitreous Detachment MESH:D020255 DO:DOID:9726 Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility. MESH:D005128 C11.980 C11 Detachment, Posterior Vitreous|Detachments, Posterior Vitreous|Detachments, Vitreous|Detachment, Vitreous|Posterior Vitreous Detachment|Posterior Vitreous Detachments|Vitreous Detachment, Posterior|Vitreous Detachments|Vitreous Detachments, Posterior Eye disease vitreous floaters MESH:C000726608 MESH:D014786 C10.597.751.941/C000726608|C11.966/C000726608|C23.888.592.763.941/C000726608 C10.597.751.941|C11.966|C23.888.592.763.941 eye floaters|myodesopsia Eye disease|Nervous system disease|Signs and symptoms Vitreous Hemorrhage MESH:D014823 Hemorrhage into the VITREOUS BODY. MESH:D005130 C11.290.960|C23.550.414.756.887 C11.290|C23.550.414.756 Hemorrhage, Vitreous|Vitreous Hemorrhages Eye disease|Pathology (process) Viusid MESH:C551853 MESH:D014806 C18.654.521.500.133.699.923/C551853 C18.654.521.500.133.699.923 Nutrition disorder VLCAD deficiency MESH:C536353 OMIM:201475 MESH:D000080984|MESH:D008052|MESH:D009135|MESH:D028361 C05.651/C536353|C10.668.491/C536353|C15.378.190.223.500/C536353|C16.320.565.398/C536353|C16.614.183/C536353|C18.452.584.563/C536353|C18.452.648.398/C536353|C18.452.660/C536353 C05.651|C10.668.491|C15.378.190.223.500|C16.320.565.398|C16.614.183|C18.452.584.563|C18.452.648.398|C18.452.660 Acadvl|ACADVLD|Acyl-Coa Dehydrogenase Very Long Chain Deficiency|Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of|Pearson Marrow-Pancreas Syndrome|Pearson's marrow-pancreas syndrome|Pearson syndrome|Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction|Very long-chain acyl-CoA dehydrogenase deficiency|Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency|Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency|Vlcad-C|VLCAD DEFICIENCY|Vlcad-H Blood disease|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Musculoskeletal disease|Nervous system disease Vocal Cord Dysfunction MESH:D064706 A disorder characterized by an intermittent abnormal VOCAL CORDS movement toward the midline during inspiration or expiration resulting in upper AIRWAY OBSTRUCTION. MESH:D007818|MESH:D012120 C08.360.895|C08.618.980|C09.400.895 C08.360|C08.618|C09.400 Dysfunctions, Vocal Cord|Dysfunction, Vocal Cord|Exercise Induced Vocal Cord Dysfunction|Exercise-Induced Vocal Cord Dysfunction|Paradoxical Vocal Fold Motion|Paradoxical Vocal Fold Motion Disorder|Vocal Cord Dysfunctions Ear-nose-throat disease|Respiratory tract disease Vocal cord dysfunction familial MESH:C536354 MESH:D014826 C08.360.931/C536354|C09.400.931/C536354|C10.292.887.800/C536354|C10.597.622.943/C536354|C23.888.592.636.943/C536354 C08.360.931|C09.400.931|C10.292.887.800|C10.597.622.943|C23.888.592.636.943 Familial vocal cord dysfunction|Gerhardt syndrome|Laryngeal abductor paralysis|Plott syndrome|Vocal Cord Dysfunction, Familial Ear-nose-throat disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Vocal Cord Paralysis MESH:D014826 Congenital or acquired paralysis of one or both VOCAL CORDS. This condition is caused by defects in the CENTRAL NERVOUS SYSTEM, the VAGUS NERVE and branches of LARYNGEAL NERVES. Common symptoms are VOICE DISORDERS including HOARSENESS or APHONIA. MESH:D007818|MESH:D010243|MESH:D020421 C08.360.931|C09.400.931|C10.292.887.800|C10.597.622.943|C23.888.592.636.943 C08.360|C09.400|C10.292.887|C10.597.622|C23.888.592.636 Acquired Vocal Cord Palsy|Bilateral Vocal Cord Paresis|Congenital Vocal Cord Palsy|Laryngeal Nerve Palsy, Recurrent|Laryngeal Paralyses|Laryngeal Paralysis|Palsies, Vocal Cord|Palsies, Vocal Fold|Palsy, Vocal Cord|Palsy, Vocal Fold|Paralyses, Laryngeal|Paralyses, Vocal Cord|Paralysis, Laryngeal|Paralysis, Unilateral, Vocal Cord|Paralysis, Vocal Cord|Paralysis, Vocal Cord, Unilateral|Pareses, Vocal Cord|Paresis, Vocal Cord|Partial Paralysis (Paresis) Vocal Cords|Recurrent Laryngeal Nerve Palsy|Total Vocal Cord Paralysis|Unilateral Paralysis, Vocal Cord|Unilateral Vocal Cord Paralysis|Unilateral Vocal Cord Paresis|Vocal Cord Palsies|Vocal Cord Palsy|Vocal Cord Palsy, Congenital|Vocal Cord Paralyses|Vocal Cord Paralysis, Unilateral|Vocal Cord Pareses|Vocal Cord Paresis|Vocal Fold Palsies|Vocal Fold Palsy Ear-nose-throat disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Vogt Cephalodactyly MESH:C566327 MESH:D000168 C05.116.099.370.894.232.015/C566327|C05.116.099.370.894.819.100/C566327|C05.660.207.240.100/C566327|C05.660.585.800.100/C566327|C05.660.906.364.100/C566327|C05.660.906.819.100/C566327|C16.131.621.207.240.100/C566327|C16.131.621.585.800.100/C566327|C16.131.621.906.364.100/C566327|C16.131.621.906.819.100/C566327 C05.116.099.370.894.232.015|C05.116.099.370.894.819.100|C05.660.207.240.100|C05.660.585.800.100|C05.660.906.364.100|C05.660.906.819.100|C16.131.621.207.240.100|C16.131.621.585.800.100|C16.131.621.906.364.100|C16.131.621.906.819.100 Congenital abnormality|Musculoskeletal disease Vohwinkel syndrome MESH:C536457 DO:DOID:0111339|OMIM:124500 MESH:D000015|MESH:D006228|MESH:D006319|MESH:D007645 C05.390.408/C536457|C05.660.585.988.425/C536457|C09.218.458.341.887/C536457|C10.597.751.418.341.887/C536457|C16.131.077/C536457|C16.131.621.585.988.500/C536457|C16.320.850.475/C536457|C17.800.428.435/C536457|C17.800.827.475/C536457|C23.888.592.763.393.341.887/C536457 C05.390.408|C05.660.585.988.425|C09.218.458.341.887|C10.597.751.418.341.887|C16.131.077|C16.131.621.585.988.500|C16.320.850.475|C17.800.428.435|C17.800.827.475|C23.888.592.763.393.341.887 Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes|DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES|Keratoderma hereditarium mutilans|KHM|Mutilating keratoderma|Palmoplantar Keratoderma Mutilans|Palmoplantar Keratoderma Mutilans Vohwinkel|Ppk Mutilans Vohwinkel|VOWNKL Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Vohwinkel Syndrome, Variant Form MESH:C565826 OMIM:604117 MESH:D012873 C16.320.850/C565826|C17.800.827/C565826 C16.320.850|C17.800.827 LORICRIN KERATODERMA|Mutilating Keratoderma with Ichthyosis|Vohwinkel Syndrome with Ichthyosis Genetic disease (inborn)|Skin disease Voice Disorders MESH:D014832 Pathological processes that affect voice production, usually involving VOCAL CORDS and the LARYNGEAL MUCOSA. Voice disorders can be caused by organic (anatomical), or functional (emotional or psychological) factors leading to DYSPHONIA; APHONIA; and defects in VOICE QUALITY, loudness, and pitch. MESH:D007818|MESH:D009461 C08.360.940|C09.400.940|C10.597.975|C23.888.592.979 C08.360|C09.400|C10.597|C23.888.592 Disturbances, Voice|Disturbance, Voice|Fatigues, Voice|Fatigue, Voice|Neurologic Voice Disorder|Neurologic Voice Disorders|Voice Disorder|Voice Disorder, Neurologic|Voice Disorders, Neurologic|Voice Disturbance|Voice Disturbances|Voice Fatigue|Voice Fatigues Ear-nose-throat disease|Nervous system disease|Respiratory tract disease|Signs and symptoms Volcke Soekarman syndrome MESH:C537718 MESH:D003616|MESH:D006130|MESH:D008607|MESH:D015419 C10.228.140.252.300/C537718|C10.228.140.602.500/C537718|C10.500.205/C537718|C10.500.300.820/C537718|C10.574.500.495.820/C537718|C10.597.606.360/C537718|C10.668.829.800.300.820/C537718|C16.131.666.205/C537718|C16.131.666.300.820/C537718|C16.320.400.375.820/C537718|C23.550.393/C537718|C23.888.592.604.646/C537718|F03.625.539/C537718 C10.228.140.252.300|C10.228.140.602.500|C10.500.205|C10.500.300.820|C10.574.500.495.820|C10.597.606.360|C10.668.829.800.300.820|C16.131.666.205|C16.131.666.300.820|C16.320.400.375.820|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms Volvulus Of Midgut MESH:C562456 MESH:D004065|MESH:D045822 C06.198/C562456|C06.405.469.531.568/C562456|C16.131.314/C562456|C23.300.970.500/C562456 C06.198|C06.405.469.531.568|C16.131.314|C23.300.970.500 Intestinal Malrotation, Familial Congenital abnormality|Digestive system disease|Pathology (anatomical condition) Vomiting MESH:D014839 The forcible expulsion of the contents of the STOMACH through the MOUTH. MESH:D012817 C23.888.821.937 C23.888.821 Emesis Signs and symptoms Vomiting, Anticipatory MESH:D014840 Vomiting caused by expectation of discomfort or unpleasantness. MESH:D014839 C23.888.821.937.080 C23.888.821.937 Anticipatory Vomiting Signs and symptoms von Hippel-Lindau Disease MESH:D006623 DO:DOID:14175|OMIM:193300 An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions. MESH:D000072661|MESH:D000798|MESH:D020752 C10.562.925|C14.907.077.925|C16.131.077.245.750|C16.320.184.750 C10.562|C14.907.077|C16.131.077.245|C16.320.184 Angiomatoses, Familial Cerebelloretinal|Angiomatoses, Familial Cerebello-Retinal|Angiomatosis, Familial Cerebelloretinal|Angiomatosis, Familial Cerebello-Retinal|Angiomatosis Retinae|Cerebelloretinal Angiomatoses, Familial|Cerebello-Retinal Angiomatoses, Familial|Cerebelloretinal Angiomatosis, Familial|Cerebello-Retinal Angiomatosis, Familial|Familial Cerebelloretinal Angiomatoses|Familial Cerebello-Retinal Angiomatoses|Familial Cerebelloretinal Angiomatosis|Familial Cerebello Retinal Angiomatosis|Familial Cerebello-Retinal Angiomatosis|Hippel Lindau Disease|Hippel-Lindau Disease|Lindau Disease|Lindau's Disease|Lindaus Disease|Lindau's Diseases|VHLS|VHL Syndrome|VHL Syndromes|VHL VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED|von Hippel Lindau Disease|von Hippel Lindau Syndrome|von Hippel-Lindau Syndrome Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Nervous system disease Von Willebrand disease, platelet type MESH:C536458 OMIM:177820 MESH:D014842 C15.378.100.100.900/C536458|C15.378.100.141.900/C536458|C15.378.140.900/C536458|C15.378.463.920/C536458|C16.320.099.920/C536458 C15.378.100.100.900|C15.378.100.141.900|C15.378.140.900|C15.378.463.920|C16.320.099.920 BDPLT3|BLEEDING DISORDER, PLATELET-TYPE, 3|Platelet-type Von Willebrand disease|Pseudo-Von Willebrand disease|Von Willebrand Disease, Platelet-Type|VWDP Blood disease|Genetic disease (inborn) von Willebrand Diseases MESH:D014842 DO:DOID:12531 Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion. MESH:D001791|MESH:D006474|MESH:D020147|MESH:D025861 C15.378.100.100.900|C15.378.100.141.900|C15.378.140.900|C15.378.463.920|C16.320.099.920 C15.378.100.100|C15.378.100.141|C15.378.140|C15.378.463|C16.320.099 Angiohemophilia|Angiohemophilias|Disorder, Von Willebrand|Hemophilia, Vascular|Pseudohemophilias, Vascular|Pseudohemophilia, Vascular|Vascular Hemophilia|Vascular Hemophilias|Vascular Pseudohemophilia|Vascular Pseudohemophilias|von Willebrand Disease|von Willebrand Disease, Recessive Form|Von Willebrand Disorder|von Willebrand's Disease|von Willebrand's Diseases|Von Willebrand's Factor Deficiency Blood disease|Genetic disease (inborn) von Willebrand Disease, Type 1 MESH:D056725 DO:DOID:0060573|OMIM:193400 A subtype of von Willebrand disease that results from a partial deficiency of VON WILLEBRAND FACTOR. MESH:D014842 C15.378.100.100.900.100|C15.378.100.141.900.100|C15.378.463.920.100|C16.320.099.920.100 C15.378.100.100.900|C15.378.100.141.900|C15.378.463.920|C16.320.099.920 Type 1 von Willebrand Disease|Type I von Willebrand Disease|von Willebrand Disease, Type I|VWD1|VWD, TYPE 1 Blood disease|Genetic disease (inborn) von Willebrand Disease, Type 2 MESH:D056728 DO:DOID:0060574|OMIM:613554 A subtype of von Willebrand disease that results from qualitative deficiencies of VON WILLEBRAND FACTOR. The subtype is divided into several variants with each variant having a distinctive pattern of PLATELET-interaction. MESH:D014842 C15.378.100.100.900.200|C15.378.100.141.900.200|C15.378.463.920.200|C16.320.099.920.200 C15.378.100.100.900|C15.378.100.141.900|C15.378.463.920|C16.320.099.920 Type 2A von Willebrand Disease|Type 2B von Willebrand Disease|Type 2M von Willebrand Disease|Type 2N von Willebrand Disease|Type 2 von Willebrand Disease|Type IIA von Willebrand Disease|Type IIB von Willebrand Disease|Type IIM von Willebrand Disease|Type IIN von Willebrand Disease|Type II von Willebrand Disease|von Willebrand Disease, Type 2A|von Willebrand Disease, Type 2B|VON WILLEBRAND DISEASE, TYPE 2B, INCLUDED|von Willebrand Disease, Type 2M|VON WILLEBRAND DISEASE, TYPE 2M, INCLUDED|von Willebrand Disease, Type 2N|VON WILLEBRAND DISEASE, TYPE 2N, INCLUDED|von Willebrand Disease, Type II|von Willebrand Disease, Type IIA|von Willebrand Disease, Type IIB|von Willebrand Disease, Type IIM|von Willebrand Disease, Type IIN|VWD2|VWD2A, INCLUDED|VWD2B, INCLUDED|VWD2M, INCLUDED|VWD2N, INCLUDED|VWD, TYPE 2 VON WILLEBRAND DISEASE, TYPE 2A, INCLUDED Blood disease|Genetic disease (inborn) von Willebrand Disease, Type 3 MESH:D056729 DO:DOID:0111054|OMIM:277480 A subtype of von Willebrand disease that results from a total or near total deficiency of VON WILLEBRAND FACTOR. MESH:D014842 C15.378.100.100.900.300|C15.378.100.141.900.300|C15.378.463.920.300|C16.320.099.920.300 C15.378.100.100.900|C15.378.100.141.900|C15.378.463.920|C16.320.099.920 Type 3 Von Willebrand's Disease|Type 3 VWD|Von Willebrand Disease, Severe Form|VON WILLEBRAND DISEASE, TYPE III|VWD3|VWD, TYPE 3 Blood disease|Genetic disease (inborn) Von Willebrand Disease, X-Linked Form MESH:C564041 MESH:D014842|MESH:D040181 C15.378.100.100.900/C564041|C15.378.100.141.900/C564041|C15.378.140.900/C564041|C15.378.463.920/C564041|C16.320.099.920/C564041|C16.320.322/C564041 C15.378.100.100.900|C15.378.100.141.900|C15.378.140.900|C15.378.463.920|C16.320.099.920|C16.320.322 Blood disease|Genetic disease (inborn) Von willebrand factor, deficiency MESH:C531844 MESH:D014842 C15.378.100.100.900/C531844|C15.378.100.141.900/C531844|C15.378.140.900/C531844|C15.378.463.920/C531844|C16.320.099.920/C531844 C15.378.100.100.900|C15.378.100.141.900|C15.378.140.900|C15.378.463.920|C16.320.099.920 Blood disease|Genetic disease (inborn) Voyeurism MESH:D014843 DO:DOID:10834 A paraphilia characterized by repetitive looking at unsuspecting people, usually strangers, who are either naked, in the act of disrobing, or engaging in sexual activity, as the method for achieving sexual excitement. MESH:D010262 F03.657.900 F03.657 Voyeurisms Mental disorder VULTO-VAN SILFHOUT-DE VRIES SYNDROME OMIM:615828 DO:DOID:0070054 MESH:D008607 C10.597.606.360/615828|C23.888.592.604.646/615828|F03.625.539/615828 C10.597.606.360|C23.888.592.604.646|F03.625.539 IDDISBAS|INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED EXPRESSIVE SPEECH AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES|MENTAL RETARDATION, AUTOSOMAL DOMINANT 24|MRD24|VSVS Mental disorder|Nervous system disease|Signs and symptoms Vulvar Diseases MESH:D014845 DO:DOID:2059 Pathological processes of the VULVA. MESH:D005831 C12.050.351.500.944|C12.100.250.944 C12.050.351.500|C12.100.250 Diseases, Vulvar|Disease, Vulvar|Vulvar Disease Urogenital disease (female) Vulvar dysesthesia localized in the vestibule MESH:C548479 MESH:D054515 C12.050.351.500.944.902.368/C548479|C12.100.250.944.902.368/C548479 C12.050.351.500.944.902.368|C12.100.250.944.902.368 Urogenital disease (female) Vulvar Lichen Sclerosus MESH:D007724 Atrophy and shriveling of the SKIN of the VULVA that is characterized by the whitish LICHEN SCLEROSUS appearance, inflammation, and PRURITUS. MESH:D014845 C12.050.351.500.944.815|C12.100.250.944.815 C12.050.351.500.944|C12.100.250.944 Kraurosis Vulvae|Lichen Sclerosus of Vulva|Lichen Sclerosus, Vulvar|Sclerosus, Vulvar Lichen|Vulvae, Kraurosis|Vulva Lichen Sclerosus Urogenital disease (female) Vulvar Neoplasms MESH:D014846 DO:DOID:1245 Tumors or cancer of the VULVA. MESH:D005833|MESH:D014845 C04.588.945.418.968|C12.050.351.500.944.819|C12.050.351.937.418.968|C12.100.250.944.819|C12.900.418.968 C04.588.945.418|C12.050.351.500.944|C12.050.351.937.418|C12.100.250.944|C12.900.418 Cancer of the Vulva|Cancer of Vulva|Cancers, Vulva|Cancers, Vulvar|Cancer, Vulva|Cancer, Vulvar|Neoplasms, Vulva|Neoplasms, Vulvar|Neoplasm, Vulva|Neoplasm, Vulvar|Vulva Cancer|Vulva Cancers|Vulva Neoplasm|Vulva Neoplasms|Vulvar Cancer|Vulvar Cancers|Vulvar Neoplasm Cancer|Urogenital disease (female) Vulvar Vestibulitis MESH:D054515 Inflammation of the vulvar vestibular region at the entrance of the VAGINA, generally involving surface mucosa and submucosal vestibular glands. It is characterized by ERYTHEMA and chronic recurrent pain in this area. MESH:D014847 C12.050.351.500.944.902.368|C12.100.250.944.902.368 C12.050.351.500.944.902|C12.100.250.944.902 Vestibulitides, Vulvar|Vestibulitis, Vulvar|Vulvar Vestibulitides|Vulvar Vestibulitis Syndrome Urogenital disease (female) Vulvitis MESH:D014847 DO:DOID:3901 Inflammation of the VULVA. It is characterized by PRURITUS and painful urination. MESH:D014845 C12.050.351.500.944.902|C12.100.250.944.902 C12.050.351.500.944|C12.100.250.944 Vulvitides Urogenital disease (female) Vulvodynia MESH:D056650 Complex pain syndrome with unknown etiology, characterized by constant or intermittent generalized vulva pain (Generalized vulvodynia) or localized burning sensations in the VESTIBULE area when pressure is applied (Vestibulodynia, or Vulvar Vestibulitis Syndrome). Typically, vulvar tissue with vulvodynia appears normal without infection or skin disease. Vulvodynia impacts negatively on a woman's quality of life as it interferes with sexual and daily activities. MESH:D014845 C12.050.351.500.944.951|C12.100.250.944.951 C12.050.351.500.944|C12.100.250.944 Generalized Vulvodynia|Pain, Vulva|Vestibulodynia|Vulva Pain|Vulvodynia, Generalized Urogenital disease (female) Vulvovaginitis MESH:D014848 DO:DOID:2273 Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS. MESH:D014627|MESH:D014847 C12.050.351.500.894.906.820|C12.050.351.500.944.902.737|C12.100.250.894.906.820|C12.100.250.944.902.737 C12.050.351.500.894.906|C12.050.351.500.944.902|C12.100.250.894.906|C12.100.250.944.902 Vulvovaginitides Urogenital disease (female) Vulvovaginitis, Allergic Seminal MESH:C565993 MESH:D006967|MESH:D014848 C12.050.351.500.894.906.820/C565993|C12.050.351.500.944.902.737/C565993|C12.100.250.894.906.820/C565993|C12.100.250.944.902.737/C565993|C20.543/C565993 C12.050.351.500.894.906.820|C12.050.351.500.944.902.737|C12.100.250.894.906.820|C12.100.250.944.902.737|C20.543 Immune system disease|Urogenital disease (female) Waaler Aarskog syndrome MESH:C536461 MESH:D006849|MESH:D012600 C05.116.900.800.875/C536461|C10.228.140.602/C536461 C05.116.900.800.875|C10.228.140.602 Musculoskeletal disease|Nervous system disease Waardenburg Syndrome MESH:D014849 DO:DOID:0110948|DO:DOID:9258|OMIM:148820|OMIM:193500 Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. MESH:D000015 C16.131.077.938 C16.131.077 Klein's Syndrome|Kleins Syndrome|Klein Syndrome|Klein Waardenburg Syndrome|Klein-Waardenburg Syndrome|Syndrome, Klein|Syndrome, Klein's|Syndrome, Klein-Waardenburg|Syndrome, Waardenburg|Syndrome, Waardenburg-Klein|Syndrome, Waardenburg's|Waardenburg Klein Syndrome|Waardenburg-Klein Syndrome|Waardenburg's Syndrome|Waardenburgs Syndrome|Waardenburg's Syndrome Type 1|Waardenburg Syndrome Type 1|Waardenburg Syndrome, Type 1|Waardenburg Syndrome Type 3|Waardenburg Syndrome, Type 3|Waardenburg Syndrome, Type III|Waardenburg Syndrome with Dystopia Canthorum|Waardenburg Syndrome with Upper Limb Anomalies|White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations|WS1|WS3 Congenital abnormality Waardenburg syndrome type 2 MESH:C536463 OMIM:611584 MESH:D014849 C16.131.077.938/C536463 C16.131.077.938 HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION|Waardenburg Syndrome, Type 2E|Waardenburg Syndrome, Type 2E, With Or Without Neurologic Involvement|Waardenburg Syndrome, Type IIE|WS2E|WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT|WS type 2 Waardenburg syndrome type 2 Congenital abnormality Waardenburg syndrome type 2A MESH:C536464 DO:DOID:0110950|OMIM:193510 MESH:D014849 C16.131.077.938/C536464 C16.131.077.938 Waardenburg Syndrome, Type 2A|Waardenburg Syndrome, Type IIA|Waardenburg Syndrome Without Dystopia Canthorum|WS2|WS2A Congenital abnormality Waardenburg syndrome type 2B MESH:C536465 DO:DOID:0110947|OMIM:600193 MESH:D014849 C16.131.077.938/C536465 C16.131.077.938 Waardenburg Syndrome, Type 2B|Waardenburg Syndrome, Type IIB|WS2B Congenital abnormality Waardenburg Syndrome, Type 2C MESH:C564684 OMIM:606662 MESH:D014849 C16.131.077.938/C564684 C16.131.077.938 Waardenburg Syndrome, Type IIC|WS2C Congenital abnormality Waardenburg Syndrome, Type 2D MESH:C563839 MESH:D014849 C16.131.077.938/C563839 C16.131.077.938 Waardenburg Syndrome, Type IID Congenital abnormality Waardenburg syndrome, type 4 MESH:C536467 MESH:D006627|MESH:D014849 C06.198.439/C536467|C06.405.469.158.701.439/C536467|C16.131.077.938/C536467|C16.131.314.439/C536467 C06.198.439|C06.405.469.158.701.439|C16.131.077.938|C16.131.314.439 Hirschsprung disease with pigmentary anomaly|Shah-Waardenburg syndrome|Waardenburg-Hirschsprung disease|Waardenburg-Shah syndrome|Waardenburg Syndrome, Type 4a|Waardenburg Syndrome, Type Iva|Waardenburg Syndrome With Hirschsprung Disease, Type 4a Congenital abnormality|Digestive system disease WAARDENBURG SYNDROME, TYPE 4A OMIM:277580 DO:DOID:0110953 MESH:C536467|MESH:D006627|MESH:D010859 C06.198.439/277580|C06.198.439/C536467/277580|C06.405.469.158.701.439/277580|C06.405.469.158.701.439/C536467/277580|C16.131.077.938/C536467/277580|C16.131.314.439/277580|C16.131.314.439/C536467/277580|C17.800.621/277580|C23.550.755/277580 C06.198.439|C06.198.439/C536467|C06.405.469.158.701.439|C06.405.469.158.701.439/C536467|C16.131.077.938/C536467|C16.131.314.439|C16.131.314.439/C536467|C17.800.621|C23.550.755 SHAH-WAARDENBURG SYNDROME|WAARDENBURG-SHAH SYNDROME|WAARDENBURG SYNDROME, TYPE IVA|WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A|WS4|WS4A Congenital abnormality|Digestive system disease|Pathology (process)|Skin disease Waardenburg Syndrome, Type 4b MESH:C567680 OMIM:613265 MESH:D006627|MESH:D014849 C06.198.439/C567680|C06.405.469.158.701.439/C567680|C16.131.077.938/C567680|C16.131.314.439/C567680 C06.198.439|C06.405.469.158.701.439|C16.131.077.938|C16.131.314.439 Waardenburg Syndrome, Type 4b, With Hirschsprung Disease|Waardenburg Syndrome, Type Ivb|WS4B Congenital abnormality|Digestive system disease Waardenburg Syndrome, Type 4c MESH:C567679 OMIM:613266 MESH:D006627|MESH:D014849 C06.198.439/C567679|C06.405.469.158.701.439/C567679|C16.131.077.938/C567679|C16.131.314.439/C567679 C06.198.439|C06.405.469.158.701.439|C16.131.077.938|C16.131.314.439 WAARDENBURG SYNDROME, TYPE IVC|WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C|Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc|WS4C Congenital abnormality|Digestive system disease WAGR Syndrome MESH:D017624 DO:DOID:14515|OMIM:194072 A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY. MESH:D008607|MESH:D009396|MESH:D015783|MESH:D025063|MESH:D058490 C04.557.435.595.950|C04.588.945.947.535.585.950|C04.700.900.950|C10.597.606.360.969|C11.250.060.950|C11.270.060.950|C11.941.375.060.950|C12.050.351.875.253.096.875|C12.050.351.937.820.535.585.950|C12.050.351.968.419.473.585.950|C12.200.706.316.096.875|C12.200.758.820.750.585.950|C12.200.777.419.473.585.950|C12.800.316.096.875|C12.900.820.535.585.950|C12.950.419.473.585.950|C12.950.983.535.585.950|C16.131.260.940|C16.131.384.079.950|C16.131.939.316.096.875|C16.320.180.940|C16.320.290.078.950|C16.320.700.900.950|C19.391.119.096.875 C04.557.435.595|C04.588.945.947.535.585|C04.700.900|C10.597.606.360|C11.250.060|C11.270.060|C11.941.375.060|C12.050.351.875.253.096|C12.050.351.937.820.535.585|C12.050.351.968.419.473.585|C12.200.706.316.096|C12.200.758.820.750.585|C12.200.777.419.473.585|C12.800.316.096|C12.900.820.535.585|C12.950.419.473.585|C12.950.983.535.585|C16.131.260|C16.131.384.079|C16.131.939.316.096|C16.320.180|C16.320.290.078|C16.320.700.900|C19.391.119.096 11p Partial Monosomy Syndrome|Chromosome 11p13 Deletion Syndrome|Complex, WAGR|Contiguous Gene Syndrome, WAGR|Syndrome, WAGR|WAGR|WAGR Complex|WAGR Complices|WAGR Contiguous Gene Syndrome|WAGR SYNDROME|WAGR Syndromes|Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome|WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME|Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome|Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome|Wilms Tumor-Aniridia-Genitourinary Anomalies-MR Syndrome|Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Cancer|Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Walbaum Titran Durieux Crepin syndrome MESH:C536566 MESH:D000015|MESH:D006228 C05.390.408/C536566|C05.660.585.988.425/C536566|C16.131.077/C536566|C16.131.621.585.988.500/C536566 C05.390.408|C05.660.585.988.425|C16.131.077|C16.131.621.585.988.500 Congenital abnormality|Musculoskeletal disease Waldenstrom Macroglobulinemia MESH:D008258 DO:DOID:0060901|OMIM:153600|OMIM:610430 A lymphoproliferative disorder characterized by pleomorphic B-LYMPHOCYTES including PLASMA CELLS, with increased levels of monoclonal serum IMMUNOGLOBULIN M. There is lymphoplasmacytic cells infiltration into bone marrow and often other tissues, also known as lymphoplasmacytic lymphoma. Clinical features include ANEMIA; HEMORRHAGES; and hyperviscosity. MESH:D008232|MESH:D010265|MESH:D020141|MESH:D054219 C04.557.595.925|C14.907.454.960|C15.378.147.780.925|C15.378.463.515.960|C15.604.515.925|C20.683.780.925 C04.557.595|C14.907.454|C15.378.147.780|C15.378.463.515|C15.604.515|C20.683.780 Familial Waldenstrom Macroglobulinaemia|Familial Waldenstrom's Macroglobulinaemia|Familial Waldenstroms Macroglobulinaemia|Lymphoma, Lymphocytic, Plasmacytoid|Lymphoma, Lymphoplasmacytoid|Lymphomas, Lymphoplasmacytoid|Lymphoplasmacytoid Lymphoma|Lymphoplasmacytoid Lymphomas|Macroglobulinaemia, Familial Waldenstrom's|Macroglobulinaemia, Waldenstrom's|Macroglobulinemia|Macroglobulinemia, Primary|Macroglobulinemia, Waldenstrom|Macroglobulinemia, Waldenstrom's|MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1|MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 2|Primary Macroglobulinemia|Waldenstrom Macroglobulinaemia|Waldenstrom's Macroglobulinaemia|Waldenstroms Macroglobulinaemia|Waldenstrom's Macroglobulinaemia, Familial|Waldenstrom's Macroglobulinemia|Waldenstroms Macroglobulinemia|WM1|WM2 Blood disease|Cancer|Cardiovascular disease|Immune system disease|Lymphatic disease Waldmann disease MESH:C536567 MESH:D008201|MESH:D008209 C15.604.360.500/C536567|C15.604.451.500/C536567|C15.604.496/C536567|C16.131.482.500/C536567 C15.604.360.500|C15.604.451.500|C15.604.496|C16.131.482.500 Familial Waldmann's disease|Primary intestinal lymphangiectasis|Waldmann's disease Congenital abnormality|Lymphatic disease Walker Dyson syndrome MESH:C536568 MESH:D008607|MESH:D015783 C10.597.606.360/C536568|C11.250.060/C536568|C11.270.060/C536568|C11.941.375.060/C536568|C16.131.384.079/C536568|C16.320.290.078/C536568|C23.888.592.604.646/C536568|F03.625.539/C536568 C10.597.606.360|C11.250.060|C11.270.060|C11.941.375.060|C16.131.384.079|C16.320.290.078|C23.888.592.604.646|F03.625.539 Aniridia associated with mental retardation and other eye abnormalities Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms Walker-Warburg Syndrome MESH:D058494 DO:DOID:0050560|OMIM:236670|OMIM:253280|OMIM:253800|OMIM:613150|OMIM:613153|OMIM:613154|OMIM:614643|OMIM:614830|OMIM:615041|OMIM:615181|OMIM:615249|OMIM:615287|OMIM:615350|OMIM:616538 Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development. MESH:D009136|MESH:D015785|MESH:D054222 C10.500.507.450.499.249.500|C11.270.881|C16.131.666.507.450.499.249.500|C16.320.577.750 C10.500.507.450.499.249|C11.270|C16.131.666.507.450.499.249|C16.320.577 alpha Dystroglycanopathies|alpha-Dystroglycanopathies|Cerebromuscular Dystrophy, Fukuyama Type|Cerebroocular Dysplasia Muscular Dystrophy Syndrome|Cerebroocular Dysplasia-Muscular Dystrophy Syndrome|Chemke Syndrome|CMD, Fukuyama|COD MD Syndrome|COD-MD Syndrome|COD-MD Syndromes|Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1|Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1|Disease, POMT1-Related Muscle-Eye-Brain|Dystrophy, Fukuyama Muscular|FCMD|Fktn-Related Walker-Warburg Syndrome|Fktn-Related Walker-Warburg Syndromes|Fukuyama CMD|Fukuyama Congenital Muscular Dystrophy|Fukuyama Muscular Dystrophy|Fukuyama Syndrome|Fukuyama Type Congenital Muscular Dystrophy|HARD Syndrome|HARD Syndromes|Hydrocephalus, Agyria, And Retinal Dysplasia|LGMD2K|MDDGA1|MDDGA10|MDDGA11|MDDGA12|MDDGA13|MDDGA14|MDDGA2|MDDGA3|MDDGA4|MDDGA5|MDDGA6|MDDGA7|MDDGA8|MDDGA9|MEB (Muscle-Eye-Brain) Syndrome|Muscle Eye Brain Disease|Muscle-Eye-Brain Disease|Muscle Eye Brain Disease, POMT1 Related|Muscle-Eye-Brain Disease, POMT1-Related|Muscle-Eye-Brain Diseases|Muscle-Eye-Brain Diseases, POMT1-Related|Muscular Dystrophy, Congenital, Fukuyama Type|Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A|Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9|Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1|Muscular Dystrophy, Fukuyama|Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation|Muscular Dystrophy, Limb-Girdle, Type 2K|Pagon Syndrome|Pagon Syndromes|POMT1-Related Muscle-Eye-Brain Disease|POMT1-Related Muscle-Eye-Brain Diseases|Syndrome, Chemke|Syndrome, COD-MD|Syndrome, Fktn-Related Walker-Warburg|Syndrome, Fukuyama|Syndrome, HARD|Syndrome, Pagon|Syndrome, Walker-Warburg|Syndrome, Warburg|Walker Warburg Syndrome|Walker Warburg Syndrome, Fktn Related|Walker-Warburg Syndrome, Fktn-Related|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GALNT2-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GMPPB-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED|WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED|Warburg Syndrome Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease Wallerian Degeneration MESH:D014855 Degeneration of distal aspects of a nerve axon following injury to the cell body or proximal portion of the axon. The process is characterized by fragmentation of the axon and its MYELIN SHEATH. MESH:D009410 C23.550.737.750 C23.550.737 Degeneration, Wallerian Pathology (process) Wallerian degeneration of the pyramidal tract MESH:C531847 MESH:D014855 C23.550.737.750/C531847 C23.550.737.750 Pathology (process) Wandering Spleen MESH:D050805 A congenital or acquired condition in which the SPLEEN is not in its normal anatomical position but moves about in the ABDOMEN. This is due to laxity or absence of suspensory ligaments which normally provide peritoneal attachments to keep the SPLEEN in a fixed position. Clinical symptoms include ABDOMINAL PAIN, splenic torsion and ISCHEMIA. MESH:D013158 C15.604.744.954 C15.604.744 Displaced Spleen|Displaced Spleens|Drifting Spleen|Drifting Spleens|Floating Spleen|Floating Spleens|Ptoses, Splenic|Ptosis, Splenic|Spleen, Displaced|Spleen, Drifting|Spleen, Floating|Spleens, Displaced|Spleens, Drifting|Spleens, Floating|Spleens, Wandering|Spleen, Wandering|Splenic Ptoses|Splenic Ptosis|Splenoptoses|Splenoptosis|Wandering Spleens Lymphatic disease Warburg Effect, Oncologic MESH:D000082802 An observation in neoplastic cellular transformation, characterized by an increased glucose uptake via glycolytic activities resulting in an increased LACTATE production under aerobic microenvironment. MESH:D002471 C04.697.098.500.580|C23.550.727.098.500.580 C04.697.098.500|C23.550.727.098.500 Aerobic Glycolysis, Oncologic|Glycolysis, Oncologic Aerobic|Oncologic Aerobic Glycolysis|Oncologic Warburg Effect Cancer|Pathology (process) Warburg Sjo Fledelius syndrome MESH:C536681 DO:DOID:0060237|OMIM:600118|OMIM:614222|OMIM:614225|OMIM:615663 MESH:D000015|MESH:D002386|MESH:D007006|MESH:D008607|MESH:D008831|MESH:D009896 C05.660.207.620/C536681|C10.292.700.225/C536681|C10.500.507.400.500/C536681|C10.597.606.360/C536681|C11.510.245/C536681|C11.640.451/C536681|C16.131.077/C536681|C16.131.621.207.620/C536681|C16.131.666.507.400.500/C536681|C19.391.482/C536681|C23.888.592.604.646/C536681|F03.625.539/C536681 C05.660.207.620|C10.292.700.225|C10.500.507.400.500|C10.597.606.360|C11.510.245|C11.640.451|C16.131.077|C16.131.621.207.620|C16.131.666.507.400.500|C19.391.482|C23.888.592.604.646|F03.625.539 Micro Syndrome|MICRO SYNDROME 2|MICRO SYNDROME 3|WARBM|WARBM1|WARBM1 Warburg micro syndrome 1|WARBM2|WARBM3|WARBM4|Warburg micro syndrome|WARBURG MICRO SYNDROME 1|WARBURG MICRO SYNDROME 2|WARBURG MICRO SYNDROME 3|WARBURG MICRO SYNDROME 4 Congenital abnormality|Endocrine system disease|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Warburton Anyane Yeboa syndrome MESH:C536682 MESH:D008607|MESH:D008831|MESH:D014314|MESH:D025063 C05.660.207.620/C536682|C10.500.507.400.500/C536682|C10.597.606.360/C536682|C16.131.260/C536682|C16.131.621.207.620/C536682|C16.131.666.507.400.500/C536682|C16.320.180/C536682|C23.550.210.050.750/C536682|C23.550.210.182.500/C536682|C23.888.592.604.646/C536682|F03.625.539/C536682 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C16.131.260|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.180|C23.550.210.050.750|C23.550.210.182.500|C23.888.592.604.646|F03.625.539 Mosaic variegated aneuplody microcephaly syndrome Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Warfarin Sensitivity MESH:C567080 DO:DOID:0080666 MESH:D008661 C16.320.565/C567080|C18.452.648/C567080 C16.320.565|C18.452.648 Genetic disease (inborn)|Metabolic disease Warfarin syndrome MESH:C536683 MESH:D000014 C16.131.042/C536683 C16.131.042 Congenital warfarin syndrome|Coumarin syndrome|DiSala syndrome|Fetal anticoagulant syndrome|Warfarin embryopathy Congenital abnormality War-Related Injuries MESH:D000067398 WOUNDS and INJURIES and PSYCHOLOGICAL TRAUMA sustained during WAR. MESH:D014947 C26.946 C26 Injuries, War-Related|Injury, War-Related|Trauma, War-Related|War Related Injuries|War-Related Injury|War Related Trauma|War-Related Trauma Wounds and injuries WARSAW BREAKAGE SYNDROME OMIM:613398 DO:DOID:0060535 MESH:D019457 C23.550.210.170/613398 C23.550.210.170 WABS Pathology (process) Warts MESH:D014860 Benign epidermal proliferations or tumors; some are viral in origin. MESH:D014412|MESH:D017193|MESH:D030361 C01.925.256.650.810|C01.925.825.810|C01.925.928.914|C17.800.838.790.810 C01.925.256.650|C01.925.825|C01.925.928|C17.800.838.790 Verruca|Verrucas|Wart Skin disease|Viral disease Wasting Disease, Chronic MESH:D034081 DO:DOID:3530 A transmissible spongiform encephalopathy (prion disease) of DEER and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (PRIONS). MESH:D000820|MESH:D002908|MESH:D017096 C01.207.800.858|C10.228.228.800.858|C10.574.843.925|C22.955|C23.550.291.500.937 C01.207.800|C10.228.228.800|C10.574.843|C22|C23.550.291.500 Chronic Wasting Disease Animal disease|Nervous system disease|Pathology (process) Wasting Syndrome MESH:D019282 A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism. MESH:D008659|MESH:D009748 C18.452.915|C18.654.940 C18.452|C18.654 Wasting Disease|Wasting Diseases|Wasting Syndromes Metabolic disease|Nutrition disorder Waterborne Diseases MESH:D000069578 Illnesses due to micro-organisms and chemicals in drinking water, those caused by organisms having part of their lifecycle in water or those with water-related vectors, and others spread by aerosols containing pathogens. MESH:D007239 C01.936 C01 Diseases, Waterborne|Diseases, Water-related|Disease, Waterborne|Disease, Water-related|Waterborne Disease|Water-related Disease|Water related Diseases|Water-related Diseases Water-Electrolyte Imbalance MESH:D014883 Disturbances in the body's WATER-ELECTROLYTE BALANCE. MESH:D008659 C18.452.950 C18.452 Imbalances, Water-Electrolyte|Imbalance, Water-Electrolyte|Water Electrolyte Imbalance|Water-Electrolyte Imbalances Metabolic disease Waterhouse-Friderichsen Syndrome MESH:D014884 DO:DOID:9931 A condition of HEMORRHAGE and NECROSIS of the ADRENAL GLAND. It is characterized by rapidly developing ADRENAL INSUFFICIENCY; HYPOTENSION; and widespread cutaneous PURPURA. MESH:D000309|MESH:D006474|MESH:D008585|MESH:D011693 C01.150.252.223.500.750.500|C01.150.252.400.625.549.449.800|C01.207.180.500.750.500|C10.228.228.180.500.750.500|C10.586.625.280.505.904|C15.378.100.802.843|C15.378.463.950|C19.053.500.740|C23.550.414.950.843|C23.888.885.687.843 C01.150.252.223.500.750|C01.150.252.400.625.549.449|C01.207.180.500.750|C10.228.228.180.500.750|C10.586.625.280.505|C15.378.100.802|C15.378.463|C19.053.500|C23.550.414.950|C23.888.885.687 Adrenalitides, Meningococcal Hemorrhagic|Adrenalitis, Meningococcal Hemorrhagic|Fulminant Meningococcal Sepsis with Adrenal Apoplexy|Hemorrhagic Adrenalitides, Meningococcal|Hemorrhagic Adrenalitis, Meningococcal|Meningococcal Hemorrhagic Adrenalitides|Meningococcal Hemorrhagic Adrenalitis|Meningococcal Waterhouse Friderichsen Syndrome|Meningococcal Waterhouse-Friderichsen Syndrome|Purpura Fulminans (Waterhouse-Friderichsen Syndrome)|Syndrome, Meningococcal Waterhouse-Friderichsen|Waterhouse Friderichsen Syndrome|Waterhouse-Friderichsen Syndrome, Meningococcal|Waterhouse Friederichsen Syndrome|Waterhouse-Friederichsen Syndrome Bacterial infection or mycosis|Blood disease|Endocrine system disease|Nervous system disease|Pathology (process)|Signs and symptoms Water Intoxication MESH:D014869 A condition resulting from the excessive retention of water with sodium depletion. MESH:D011041|MESH:D014883 C18.452.950.932|C25.723.932 C18.452.950|C25.723 Hyperhydration|Overhydration Metabolic disease Watermelon stomach disease MESH:C538665 MESH:D020252 C06.405.748.280/C538665|C14.907.075.280/C538665 C06.405.748.280|C14.907.075.280 Cardiovascular disease|Digestive system disease WATSON SYNDROME OMIM:193520 DO:DOID:0070483 MESH:D009456|MESH:D011666|MESH:D019080 C04.557.580.600.580.590.650/193520|C04.700.631.650/193520|C10.562.600.500/193520|C10.574.500.549.400/193520|C10.668.829.675/193520|C14.280.484.716/193520|C14.280.955.750/193520|C16.320.400.560.400/193520|C16.320.700.633.650/193520|C17.800.621.250/193520|C23.888.885.250/193520 C04.557.580.600.580.590.650|C04.700.631.650|C10.562.600.500|C10.574.500.549.400|C10.668.829.675|C14.280.484.716|C14.280.955.750|C16.320.400.560.400|C16.320.700.633.650|C17.800.621.250|C23.888.885.250 CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS|PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS|WTSN Cancer|Cardiovascular disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease Weaver-Like Syndrome MESH:C562443 DO:DOID:14731 MESH:D000015|MESH:D003409|MESH:D006228|MESH:D019465 C05.116.099.343.347/C562443|C05.116.132.256/C562443|C05.390.408/C562443|C05.660.207/C562443|C05.660.585.988.425/C562443|C16.131.077/C562443|C16.131.621.207/C562443|C16.131.621.585.988.500/C562443|C16.320.240.625/C562443|C19.297.155/C562443|C19.874.482.281/C562443 C05.116.099.343.347|C05.116.132.256|C05.390.408|C05.660.207|C05.660.585.988.425|C16.131.077|C16.131.621.207|C16.131.621.585.988.500|C16.320.240.625|C19.297.155|C19.874.482.281 Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease Weaver syndrome MESH:C536687 OMIM:277590 MESH:D000015|MESH:D003409|MESH:D006228|MESH:D019465 C05.116.099.343.347/C536687|C05.116.132.256/C536687|C05.390.408/C536687|C05.660.207/C536687|C05.660.585.988.425/C536687|C16.131.077/C536687|C16.131.621.207/C536687|C16.131.621.585.988.500/C536687|C16.320.240.625/C536687|C19.297.155/C536687|C19.874.482.281/C536687 C05.116.099.343.347|C05.116.132.256|C05.390.408|C05.660.207|C05.660.585.988.425|C16.131.077|C16.131.621.207|C16.131.621.585.988.500|C16.320.240.625|C19.297.155|C19.874.482.281 Weaver Smith syndrome|Weaver-Smith Syndrome|WSS|WVS Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease WEBB-DATTANI SYNDROME OMIM:615926 MESH:D007018|MESH:D007674|MESH:D008831|MESH:D014786 C05.660.207.620/615926|C10.228.140.617.738.300/615926|C10.500.507.400.500/615926|C10.597.751.941/615926|C11.966/615926|C12.050.351.968.419/615926|C12.200.777.419/615926|C12.950.419/615926|C16.131.621.207.620/615926|C16.131.666.507.400.500/615926|C19.700.482/615926|C23.888.592.763.941/615926 C05.660.207.620|C10.228.140.617.738.300|C10.500.507.400.500|C10.597.751.941|C11.966|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.621.207.620|C16.131.666.507.400.500|C19.700.482|C23.888.592.763.941 HYPOTHALAMO-PITUITARY-FRONTOTEMPORAL HYPOPLASIA WITH VISUAL AND RENAL ANOMALIES|WEDAS Congenital abnormality|Endocrine system disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Weber Klippel Trenaunay MESH:C536889 MESH:D007715 C14.907.077.410/C536889 C14.907.077.410 Cardiovascular disease Wegener-Like Granulomatosis MESH:C566810 MESH:D014890 C08.381.483.950/C566810|C14.907.940.897.249.750/C566810|C17.800.862.105.875/C566810|C20.111.193.875/C566810 C08.381.483.950|C14.907.940.897.249.750|C17.800.862.105.875|C20.111.193.875 Cardiovascular disease|Immune system disease|Respiratory tract disease|Skin disease Weight Cycling MESH:D000091622 Repeated cycles of weight loss followed by weight gain. MESH:D015430|MESH:D015431 C23.888.144.243.926.750|C23.888.144.243.963.750 C23.888.144.243.926|C23.888.144.243.963 Cycling, Weight Signs and symptoms Weight Gain MESH:D015430 Increase in BODY WEIGHT over existing weight. MESH:D001836 C23.888.144.243.926 C23.888.144.243 Gains, Weight|Gain, Weight|Weight Gains Signs and symptoms Weight Loss MESH:D015431 Decrease in existing BODY WEIGHT. MESH:D001836 C23.888.144.243.963 C23.888.144.243 Losses, Weight|Loss, Weight|Reductions, Weight|Reduction, Weight|Weight Losses|Weight Reduction|Weight Reductions Signs and symptoms Weil Disease MESH:D014895 DO:DOID:2297 A severe form of LEPTOSPIROSIS, usually caused by LEPTOSPIRA INTERROGANS SEROVAR ICTEROHAEMORRHAGIAE and occasionally other serovars. It is transmitted to humans by the rat and is characterized by hemorrhagic and renal symptoms with accompanying JAUNDICE. MESH:D007922 C01.150.252.400.794.511.739 C01.150.252.400.794.511 Disease, Weil|Disease, Weil's|Icterohemorrhagic Leptospirosis|Jaundice, Spirochetal|Leptospirosis, Icterohemorrhagic|Spirochetal Jaundice|Weil's Disease|Weils Disease Bacterial infection or mycosis Weill-Marchesani-Like Syndrome MESH:C567710 OMIM:613195 MESH:D004392|MESH:D015785 C05.116.099.343/C567710|C11.270/C567710|C16.320.240/C567710|C16.320.290/C567710|C19.297/C567710 C05.116.099.343|C11.270|C16.320.240|C16.320.290|C19.297 WEILL-MARCHESANI-LIKE SYNDROME|WEILL-MARCHESANI SYNDROME 4|WMS4|WMSL Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease Weill-Marchesani Syndrome MESH:D056846 DO:DOID:0050475|OMIM:277600|OMIM:608328|OMIM:614819 Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. MESH:D000015|MESH:D003240|MESH:D004392|MESH:D015785 C05.116.099.343.957|C11.270.921|C16.131.077.941|C16.320.290.842|C17.300.899 C05.116.099.343|C11.270|C16.131.077|C16.320.290|C17.300 Congenital Mesodermal Dysmorphodystrophies|Congenital Mesodermal Dysmorphodystrophy|Dysmorphodystrophies, Congenital Mesodermal|Dysmorphodystrophy, Congenital Mesodermal|GEMSS|Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome|Marchesani Syndrome|Marchesani Weill Syndrome|Marchesani-Weill Syndrome|Marchesani-Weill Syndromes|Mesodermal Dysmorphodystrophies, Congenital|Mesodermal Dysmorphodystrophy, Congenital|Spherophakia Brachymorphia Syndrome|Spherophakia-Brachymorphia Syndrome|Spherophakia Brachymorphia Syndromes|Syndrome, Spherophakia Brachymorphia|Syndromes, Spherophakia Brachymorphia|Weill Marchesani Syndrome|WEILL-MARCHESANI SYNDROME 1|WEILL-MARCHESANI SYNDROME 2|WEILL-MARCHESANI SYNDROME 3|Weill Marchesani Syndrome, Autosomal Dominant|Weill-Marchesani Syndrome, Autosomal Dominant|Weill Marchesani Syndrome, Autosomal Recessive|Weill-Marchesani Syndrome, Autosomal Recessive|WMS1|WMS2|WMS3 Congenital abnormality|Connective tissue disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease Weinstein Kliman Scully syndrome MESH:C536688 MESH:D007006|MESH:D008661|MESH:D054062 C09.218.458.341.186.500/C536688|C10.597.751.418.341.186.500/C536688|C10.597.751.941.162.625/C536688|C11.966.075.375/C536688|C16.131.077.299/C536688|C16.320.565/C536688|C18.452.648/C536688|C19.391.482/C536688|C23.888.592.763.393.341.186.500/C536688|C23.888.592.763.941.162.625/C536688 C09.218.458.341.186.500|C10.597.751.418.341.186.500|C10.597.751.941.162.625|C11.966.075.375|C16.131.077.299|C16.320.565|C18.452.648|C19.391.482|C23.888.592.763.393.341.186.500|C23.888.592.763.941.162.625 Cardiomyopathy, hypogonadism and metabolic anomalies Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms Weismann Netter syndrome MESH:C537082 MESH:D001848|MESH:D056305 C05.116.099/C537082|C05.116.511/C537082 C05.116.099|C05.116.511 Anterior bowing of legs with dwarfism|Bowing of legs, anterior, with dwarfism|Toxopachyosteose diaphysaire tibio-peroniere|Toxopachyosteosis|Toxopachyoteose diaphysaire tibio peroniere|Weismann Netter Stuhl syndrome|Weismann-Netter Syndrome Musculoskeletal disease Welander distal myopathy, Swedish type MESH:C536690 OMIM:604454 MESH:D049310 C05.651.534.500.074/C536690|C10.668.491.175.500.074/C536690|C16.320.577.074/C536690 C05.651.534.500.074|C10.668.491.175.500.074|C16.320.577.074 Distal myopathy, Swedish type|MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT|MYOPATHY, DISTAL, SWEDISH|WDM|WELANDER DISTAL MYOPATHY Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease Wellesley Carmen French syndrome MESH:C536691 MESH:D002386|MESH:D006130 C11.510.245/C536691|C23.550.393/C536691 C11.510.245|C23.550.393 Cataract, Aberrant Oral Frenula, And Growth Retardation|Cataracts, aberrant oral frenula, and growth retardation Eye disease|Pathology (process) Wells Jankovic syndrome MESH:C536692 DO:DOID:0081100 MESH:D000326|MESH:D003638|MESH:D009128|MESH:D010243|MESH:D040181 C05.651.512/C536692|C09.218.458.341.186/C536692|C10.228.140.163.100.084/C536692|C10.228.140.163.100.362.250/C536692|C10.228.140.695.625.250/C536692|C10.314.400.250/C536692|C10.597.606.360.455.124/C536692|C10.597.613.550.550/C536692|C10.597.622/C536692|C10.597.751.418.341.186/C536692|C16.320.322.500.124/C536692|C16.320.322/C536692|C16.320.400.525.124/C536692|C16.320.565.189.084/C536692|C16.320.565.189.362.250/C536692|C16.320.565.663.100/C536692|C18.452.132.100.084/C536692|C18.452.132.100.362.250/C536692|C18.452.648.189.084/C536692|C18.452.648.189.362.250/C536692|C18.452.648.663.100/C536692|C19.053.500.270/C536692|C23.888.592.608.550.550/C536692|C23.888.592.636/C536692|C23.888.592.763.393.341.186/C536692 C05.651.512|C09.218.458.341.186|C10.228.140.163.100.084|C10.228.140.163.100.362.250|C10.228.140.695.625.250|C10.314.400.250|C10.597.606.360.455.124|C10.597.613.550.550|C10.597.622|C10.597.751.418.341.186|C16.320.322|C16.320.322.500.124|C16.320.400.525.124|C16.320.565.189.084|C16.320.565.189.362.250|C16.320.565.663.100|C18.452.132.100.084|C18.452.132.100.362.250|C18.452.648.189.084|C18.452.648.189.362.250|C18.452.648.663.100|C19.053.500.270|C23.888.592.608.550.550|C23.888.592.636|C23.888.592.763.393.341.186 Familial spastic paraparesis and deafness|Spastic Paraparesis and Deafness Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Wells syndrome MESH:C536693 MESH:D002481|MESH:D004802 C01.800.130/C536693|C01.830.200/C536693|C15.378.553.231/C536693|C17.300.185/C536693|C23.550.470.756.200/C536693 C01.800.130|C01.830.200|C15.378.553.231|C17.300.185|C23.550.470.756.200 Bullous cellulitis with eosinophilia|Eosinophilic cellulitis|Wells' syndrome Blood disease|Connective tissue disease|Pathology (process) Werner Syndrome MESH:D014898 DO:DOID:5688|OMIM:277700 An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease. MESH:D030342|MESH:D049914 C16.320.925|C18.452.284.960 C16.320|C18.452.284 Adult Premature Aging Syndrome|Adult Progeria|Progeria, Adult|Syndrome, Werner|Syndrome, Werner's|Syndrome, Werners|Werner's Syndrome|Werners Syndrome|WRN Genetic disease (inborn)|Metabolic disease Wernicke Encephalopathy MESH:D014899 DO:DOID:2384 An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3) MESH:D001928|MESH:D013832|MESH:D019973 C10.228.140.163.960|C18.452.132.960|C18.654.521.500.133.699.827.822|C25.775.100.625|F03.900.100.875 C10.228.140.163|C18.452.132|C18.654.521.500.133.699.827|C25.775.100|F03.900.100 Beriberi, Cerebral|Cerebral Beriberi|Encephalopathies, Wernicke|Encephalopathy, Gayet Wernicke|Encephalopathy, Gayet-Wernicke|Encephalopathy, Wernicke|Encephalopathy, Wernicke's|Encephalopathy, Wernickes|Gayet Wernicke Encephalopathy|Gayet-Wernicke Encephalopathy|Wernicke Disease|Wernicke Encephalopathies|Wernicke Polioencephalitis, Superior Hemorrhagic|Wernicke's Disease|Wernicke's Encephalopathy|Wernicke's Polioencephalitis, Superior Hemorrhagic|Wernicke's Superior Hemorrhagic Polioencephalitis|Wernicke's Syndrome|Wernicke Superior Hemorrhagic Polioencephalitis|Wernicke Syndrome Mental disorder|Metabolic disease|Nervous system disease|Nutrition disorder|Substance-related disorder West Nile Fever MESH:D014901 DO:DOID:2365|DO:DOID:2366|OMIM:610379 A mosquito-borne viral illness caused by the WEST NILE VIRUS, a FLAVIVIRUS and endemic to regions of Africa, Asia, and Europe. Common clinical features include HEADACHE; FEVER; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. MENINGITIS; ENCEPHALITIS; and MYELITIS may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71) MESH:D004671|MESH:D018177 C01.207.245.340.300.887|C01.207.399.750.300.887|C01.920.500.343.950|C01.925.081.343.950|C01.925.182.525.300.850|C01.925.782.310.950|C01.925.782.350.250.900|C10.228.140.430.520.750.300.887|C10.228.228.245.340.300.887|C10.228.228.399.750.300.887|C10.586.250.520.750.300.887 C01.207.245.340.300|C01.207.399.750.300|C01.920.500.343|C01.925.081.343|C01.925.182.525.300|C01.925.782.310|C01.925.782.350.250|C10.228.140.430.520.750.300|C10.228.228.245.340.300|C10.228.228.399.750.300|C10.586.250.520.750.300 Encephalitis, West Nile Fever|Infections, WNV|Infection, WNV|West Nile Fever Encephalitis|West Nile Fever Meningitis|West Nile Fever Meningoencephalitis|West Nile Fever Myelitis|West Nile Virus Infection|WEST NILE VIRUS, SUSCEPTIBILITY TO|WNV Infection|WNV Infections|WNV, SUSCEPTIBILITY TO Nervous system disease|Viral disease Westphal disease MESH:C536694 MESH:D006527|MESH:D006816 C06.552.413/C536694|C10.228.140.079.493/C536694|C10.228.140.079.545/C536694|C10.228.140.163.100.360/C536694|C10.228.140.380.278/C536694|C10.228.662.262.249.750/C536694|C10.228.662.400/C536694|C10.574.500.487/C536694|C10.574.500.497/C536694|C16.320.400.361/C536694|C16.320.400.430/C536694|C16.320.565.189.360/C536694|C16.320.565.618.403/C536694|C18.452.132.100.360/C536694|C18.452.648.189.360/C536694|C18.452.648.618.403/C536694|F03.615.250.400/C536694|F03.615.400.390/C536694 C06.552.413|C10.228.140.079.493|C10.228.140.079.545|C10.228.140.163.100.360|C10.228.140.380.278|C10.228.662.262.249.750|C10.228.662.400|C10.574.500.487|C10.574.500.497|C16.320.400.361|C16.320.400.430|C16.320.565.189.360|C16.320.565.618.403|C18.452.132.100.360|C18.452.648.189.360|C18.452.648.618.403|F03.615.250.400|F03.615.400.390 Westphal variant of Huntington's disease Digestive system disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease Wet Macular Degeneration MESH:D057135 A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision. MESH:D008268 C11.768.585.439.622 C11.768.585.439 Degenerations, Wet Macular|Degeneration, Wet Macular|Macular Degenerations, Wet|Macular Degeneration, Wet|Wet Macular Degenerations Eye disease Weyers acrofacial dysostosis MESH:C536695 DO:DOID:0111571|OMIM:193530 MESH:D000015|MESH:D014071|MESH:D017880 C05.660.585/C536695|C07.650.800/C536695|C07.793.700/C536695|C16.131.077/C536695|C16.131.621.585/C536695|C16.131.850.800/C536695 C05.660.585|C07.650.800|C07.793.700|C16.131.077|C16.131.621.585|C16.131.850.800 Acrodental dysostosis of Weyers|Acrofacial dysostosis of Weyers|Curry Hall syndrome|Curry-Hall syndrome|WAD|Weyers acrodental dysostosis Congenital abnormality|Mouth disease|Musculoskeletal disease Weyers ulnar ray-oligodactyly syndrome MESH:C536696 MESH:D000015|MESH:D006228 C05.390.408/C536696|C05.660.585.988.425/C536696|C16.131.077/C536696|C16.131.621.585.988.500/C536696 C05.390.408|C05.660.585.988.425|C16.131.077|C16.131.621.585.988.500 Congenital abnormality|Musculoskeletal disease Wheat Hypersensitivity MESH:D021182 DO:DOID:3660 Allergic reaction to wheat that is triggered by the immune system. MESH:D005512 C20.543.480.370.850 C20.543.480.370 Allergies, Wheat|Allergy, Wheat|Hypersensitivities, Wheat|Hypersensitivity, Wheat|Wheat Allergies|Wheat Allergy|Wheat Hypersensitivities Immune system disease WHIM syndrome MESH:C536697 DO:DOID:0060591|OMIM:193670 MESH:D000081207|MESH:D014860 C01.925.256.650.810/C536697|C01.925.825.810/C536697|C01.925.928.914/C536697|C16.320.798/C536697|C17.800.838.790.810/C536697|C20.673.795/C536697 C01.925.256.650.810|C01.925.825.810|C01.925.928.914|C16.320.798|C17.800.838.790.810|C20.673.795 Warts, hypogammaglobulinemia, infections, and myelokathexis|WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 1|WHIMS|WHIMS1|WHIM SYNDROME 1 Genetic disease (inborn)|Immune system disease|Skin disease|Viral disease Whiplash Injuries MESH:D014911 Hyperextension injury to the neck, often the result of being struck from behind by a fast-moving vehicle, in an automobile accident. (From Segen, The Dictionary of Modern Medicine, 1992) MESH:D019838 C26.700.500 C26.700 Injuries, Whiplash|Injury, Whiplash|Whiplash Injury Wounds and injuries Whipple Disease MESH:D008061 DO:DOID:8476 A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS. MESH:D000196|MESH:D008286 C01.150.252.410.040.137.631|C06.405.469.637.925|C18.452.603.925 C01.150.252.410.040.137|C06.405.469.637|C18.452.603 Disease, Whipple|Disease, Whipple's|Intestinal Lipodystrophy|Lipodystrophy, Intestinal|Whipple's Disease|Whipples Disease Bacterial infection or mycosis|Digestive system disease|Metabolic disease Whispering dysphonia, hereditary MESH:C536698 OMIM:128101 MESH:D004422|MESH:D014832 C08.360.940/C536698|C09.400.940/C536698|C10.228.140.079.357/C536698|C10.228.662.300.200/C536698|C10.574.500.393/C536698|C10.597.975/C536698|C16.320.400.330/C536698|C23.888.592.979/C536698 C08.360.940|C09.400.940|C10.228.140.079.357|C10.228.662.300.200|C10.574.500.393|C10.597.975|C16.320.400.330|C23.888.592.979 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT|DYSTONIA MUSCULORUM DEFORMANS 4|DYT4|Hereditary whispering dysphonia|WHISPERING DYSPHONIA, HEREDITARY Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Respiratory tract disease|Signs and symptoms Whistling face syndrome, recessive form MESH:C536699 MESH:D003394 C05.116.099.370.231/C536699|C05.660.207.231/C536699|C16.131.621.207.231/C536699 C05.116.099.370.231|C05.660.207.231|C16.131.621.207.231 Congenital abnormality|Musculoskeletal disease White Coat Hypertension MESH:D059466 Phenomenon where BLOOD PRESSURE readings are elevated only when taken in clinical settings. MESH:D006973 C14.907.489.907 C14.907.489 Clinic Hypertension, Isolated|Hypertension, Isolated Clinic|Hypertension, White Coat|Isolated Clinic Hypertension|Syndrome, White Coat|White Coat Syndrome Cardiovascular disease White Dot Syndromes MESH:D000080363 A group of idiopathic multifocal posterior uveitis syndromes involving the CHOROID; RETINAL PIGMENT EPITHELIUM; and RETINA. They are characterized by multiple lesions of hypoautofluorescent dots in the FUNDUS OCULI and reduced VISUAL ACUITY. Several entities including BIRDSHOT CHORIORETINOPATHY are HLA-A ANTIGENS serotype A29 positive. MESH:D015866 C11.941.879.780.900.650 C11.941.879.780.900 Acute Idiopathic Blind Spot Enlargement Syndrome|Acute Macular Neuroretinopathies|Acute Macular Neuroretinopathy|Acute Posterior Multifocal Placoid Pigment Epitheliopathy|APMPPE|Choroiditis, Serpiginous|Choroidopathy, Punctate Inner|Choroidopathy, Serpiginous|Diffuse Subretinal Fibrosis Uveitis|Inner Choroidopathy, Punctate|Macular Neuroretinopathy, Acute|MEWDS|Multiple Evanescent White Dot Syndrome|Neuroretinopathy, Acute Macular|Punctate Inner Choroidopathies|Punctate Inner Choroidopathy|Serpiginous Choroiditides|Serpiginous Choroiditis|Serpiginous Choroidopathies|Serpiginous Choroidopathy|White Dot Syndrome Eye disease White forelock with malformations MESH:C536700 MESH:D000015|MESH:D006201|MESH:D010859|MESH:D019066 C16.131.077/C536700|C17.800.329/C536700|C17.800.621/C536700|C23.550.291.812/C536700|C23.550.755/C536700 C16.131.077|C17.800.329|C17.800.621|C23.550.291.812|C23.550.755 Congenital abnormality|Pathology (process)|Skin disease White Heifer Disease MESH:D050072 A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of CATTLE, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile. MESH:D002418 C22.196.963 C22.196 Disease, White Heifer Animal disease White Muscle Disease MESH:D014912 A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (FABACEAE), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed) MESH:D009137 C22.595.740 C22.595 Diseases, White Muscle|Disease, White Muscle|Muscle Diseases, White|Muscle Disease, White|White Muscle Diseases Animal disease White platelet syndrome MESH:C536702 MESH:D001791 C15.378.140/C536702 C15.378.140 Blood disease WHITE-SUTTON SYNDROME OMIM:616364 DO:DOID:0070067 MESH:D012640 C10.597.742/616364|C23.888.592.742/616364 C10.597.742|C23.888.592.742 MENTAL RETARDATION, AUTOSOMAL DOMINANT 37|MRD37|WHSUS Nervous system disease|Signs and symptoms Whooping Cough MESH:D014917 A respiratory infection caused by BORDETELLA PERTUSSIS and characterized by paroxysmal coughing ending in a prolonged crowing intake of breath. MESH:D001885|MESH:D012141 C01.150.252.400.143.500|C01.748.969|C08.730.969 C01.150.252.400.143|C01.748|C08.730 Bordetella pertussis Infection, Respiratory|Cough, Whooping|Pertusses|Pertussis Bacterial infection or mycosis|Respiratory tract disease Whyte Murphy Fallon Sly syndrome MESH:C536060 MESH:D000141|MESH:D002114|MESH:D010022 C05.116.099.708.702.678/C536060|C12.050.351.968.419.815.093/C536060|C12.200.777.419.815.093/C536060|C12.950.419.815.093/C536060|C16.320.831.093/C536060|C18.452.076.176.210/C536060|C18.452.174.130/C536060 C05.116.099.708.702.678|C12.050.351.968.419.815.093|C12.200.777.419.815.093|C12.950.419.815.093|C16.320.831.093|C18.452.076.176.210|C18.452.174.130 Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male) Whyte Murphy syndrome MESH:C536054 MESH:D001847|MESH:D010026|MESH:D010859 C05.116.099.708.702/C536054|C05.116/C536054|C17.800.621/C536054|C23.550.755/C536054 C05.116|C05.116.099.708.702|C17.800.621|C23.550.755 Osteopathia striata associated with familial dermopathy and white forelock Musculoskeletal disease|Pathology (process)|Skin disease Widow's Peak Syndrome MESH:C564040 MESH:D001763|MESH:D009139 C05.660/C564040|C11.338.204/C564040|C16.131.621/C564040 C05.660|C11.338.204|C16.131.621 Widow's Peak, Ptosis, and Skeletal Anomalies Congenital abnormality|Eye disease|Musculoskeletal disease Wieacker syndrome MESH:C536703 OMIM:314580 MESH:D001072|MESH:D003286|MESH:D009133|MESH:D009886|MESH:D040181 C05.550.323/C536703|C05.651.197/C536703|C10.292.562.750/C536703|C10.597.606.881.350/C536703|C10.597.613.612/C536703|C10.597.622.447/C536703|C11.590.472/C536703|C16.320.322/C536703|C23.300.070.500/C536703|C23.888.592.604.882.350/C536703|C23.888.592.608.612/C536703|C23.888.592.636.447/C536703 C05.550.323|C05.651.197|C10.292.562.750|C10.597.606.881.350|C10.597.613.612|C10.597.622.447|C11.590.472|C16.320.322|C23.300.070.500|C23.888.592.604.882.350|C23.888.592.608.612|C23.888.592.636.447 Apraxia, oculomotor, with congenital contractures and muscle atrophy|Contractures of feet, muscle atrophy, and oculomotor apraxia|MCS|Mental retardation, X-linked, syndromic 4|Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches|Miles-Carpenter x-linked mental retardation syndrome|MRXS4|WIEACKER SYNDROME|Wieacker Wolff syndrome|Wieacker-Wolff Syndrome|WRWF Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms Wiedemann Grosse Dibbern syndrome MESH:C536704 MESH:D000015|MESH:D006130|MESH:D006983|MESH:D008607|MESH:D019465 C05.660.207/C536704|C10.597.606.360/C536704|C16.131.077/C536704|C16.131.621.207/C536704|C17.800.329.875/C536704|C23.550.393/C536704|C23.888.592.604.646/C536704|F03.625.539/C536704 C05.660.207|C10.597.606.360|C16.131.077|C16.131.621.207|C17.800.329.875|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Wiedemann Oldigs Oppermann syndrome MESH:C536705 MESH:D001848|MESH:D006628|MESH:D008607|MESH:D008661 C05.116.099/C536705|C10.597.606.360/C536705|C16.320.565/C536705|C17.800.329.750/C536705|C18.452.648/C536705|C23.888.592.604.646/C536705|C23.888.971.468/C536705|F03.625.539/C536705 C05.116.099|C10.597.606.360|C16.320.565|C17.800.329.750|C18.452.648|C23.888.592.604.646|C23.888.971.468|F03.625.539 Hirsutism skeletal dysplasia mental retardation syndrome|Hirsutism, Skeletal Dysplasia, Mental Retardation Syndrome Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease WIEDEMANN-STEINER SYNDROME OMIM:605130 MESH:C535618|MESH:D002658|MESH:D008607|MESH:D019465 C05.660.207/605130|C10.597.606.360/605130|C16.131.621.207/605130|C17.800.329.875/C535618/605130|C23.550.393/C535618/605130|C23.888.592.604.646/605130|F03.625.421/605130|F03.625.539/605130 C05.660.207|C10.597.606.360|C16.131.621.207|C17.800.329.875/C535618|C23.550.393/C535618|C23.888.592.604.646|F03.625.421|F03.625.539 HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL DELAY|WDSTS Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease Williams-Beuren Region Duplication Syndrome MESH:C565723 OMIM:609757 MESH:D018980 C10.597.606.360.970/C565723|C14.280.484.048.750.535.960/C565723|C16.131.260.970/C565723|C16.320.180.970/C565723 C10.597.606.360.970|C14.280.484.048.750.535.960|C16.131.260.970|C16.320.180.970 Chromosome 7q11.23 Duplication Syndrome|CHROMOSOME 7q11.23 TRIPLICATION SYNDROME, INCLUDED|SOMERVILLE-VAN DER AA SYNDROME WBS TRIPLICATION SYNDROME, INCLUDED|Wbs Duplication Syndrome Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Nervous system disease Williams Syndrome MESH:D018980 DO:DOID:1928|OMIM:194050 A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy. MESH:D008607|MESH:D021921|MESH:D025063 C10.597.606.360.970|C14.280.484.048.750.535.960|C16.131.260.970|C16.320.180.970 C10.597.606.360|C14.280.484.048.750.535|C16.131.260|C16.320.180 Aortic Stenoses, Hypercalcemia-Supravalvar|Aortic Stenosis, Hypercalcemia-Supravalvar|Beuren Syndrome|Chromosome 7q11.23 Deletion Syndrome|CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB|Contiguous Gene Syndrome, Williams|Hypercalcemia-Supravalvar Aortic Stenoses|Hypercalcemia Supravalvar Aortic Stenosis|Hypercalcemia-Supravalvar Aortic Stenosis|Stenoses, Hypercalcemia-Supravalvar Aortic|Stenosis, Hypercalcemia-Supravalvar Aortic|Supravalvar Aortic Stenosis Syndrome|Syndrome, Beuren|Syndrome, Williams|Syndrome, Williams-Beuren|WBS|Williams Beuren Syndrome|Williams-Beuren Syndrome|Williams Contiguous Gene Syndrome|WILLIAMS SYNDROME|WMS|WS Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Nervous system disease Wilms Tumor MESH:D009396 DO:DOID:2154|OMIM:194070 A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN. MESH:D007680|MESH:D009386|MESH:D018193 C04.557.435.595|C04.588.945.947.535.585|C04.700.900|C12.050.351.937.820.535.585|C12.050.351.968.419.473.585|C12.200.758.820.750.585|C12.200.777.419.473.585|C12.900.820.535.585|C12.950.419.473.585|C12.950.983.535.585|C16.320.700.900 C04.557.435|C04.588.945.947.535|C04.700|C12.050.351.937.820.535|C12.050.351.968.419.473|C12.200.758.820.750|C12.200.777.419.473|C12.900.820.535|C12.950.419.473|C12.950.983.535|C16.320.700 Bilateral Wilms Tumor|Nephroblastoma|Nephroblastomas|Tumor, Bilateral Wilms|Tumor, Wilms|Tumor, Wilms'|Wilm's Tumor|Wilms' Tumor|Wilms Tumor 1|Wilms Tumor, Bilateral|Wilm Tumor|WT1 Cancer|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Wilms Tumor 3 MESH:C565991 OMIM:194090 MESH:D009396 C04.557.435.595/C565991|C04.588.945.947.535.585/C565991|C04.700.900/C565991|C12.050.351.937.820.535.585/C565991|C12.050.351.968.419.473.585/C565991|C12.200.758.820.750.585/C565991|C12.200.777.419.473.585/C565991|C12.900.820.535.585/C565991|C12.950.419.473.585/C565991|C12.950.983.535.585/C565991|C16.320.700.900/C565991 C04.557.435.595|C04.588.945.947.535.585|C04.700.900|C12.050.351.937.820.535.585|C12.050.351.968.419.473.585|C12.200.758.820.750.585|C12.200.777.419.473.585|C12.900.820.535.585|C12.950.419.473.585|C12.950.983.535.585|C16.320.700.900 WT3 Cancer|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Wilms Tumor 4 MESH:C563336 OMIM:601363 MESH:D009396 C04.557.435.595/C563336|C04.588.945.947.535.585/C563336|C04.700.900/C563336|C12.050.351.937.820.535.585/C563336|C12.050.351.968.419.473.585/C563336|C12.200.758.820.750.585/C563336|C12.200.777.419.473.585/C563336|C12.900.820.535.585/C563336|C12.950.419.473.585/C563336|C12.950.983.535.585/C563336|C16.320.700.900/C563336 C04.557.435.595|C04.588.945.947.535.585|C04.700.900|C12.050.351.937.820.535.585|C12.050.351.968.419.473.585|C12.200.758.820.750.585|C12.200.777.419.473.585|C12.900.820.535.585|C12.950.419.473.585|C12.950.983.535.585|C16.320.700.900 Familial Wilms Tumor 1|FWT1|WT4 Cancer|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) WILMS TUMOR 5 OMIM:601583 MESH:D009396 C04.557.435.595/601583|C04.588.945.947.535.585/601583|C04.700.900/601583|C12.050.351.937.820.535.585/601583|C12.050.351.968.419.473.585/601583|C12.200.758.820.750.585/601583|C12.200.777.419.473.585/601583|C12.900.820.535.585/601583|C12.950.419.473.585/601583|C12.950.983.535.585/601583|C16.320.700.900/601583 C04.557.435.595|C04.588.945.947.535.585|C04.700.900|C12.050.351.937.820.535.585|C12.050.351.968.419.473.585|C12.200.758.820.750.585|C12.200.777.419.473.585|C12.900.820.535.585|C12.950.419.473.585|C12.950.983.535.585|C16.320.700.900 WILMS TUMOR, SUSCEPTIBILITY TO|WT5|WTSL Cancer|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) WILMS TUMOR 6 OMIM:616806 MESH:D009396 C04.557.435.595/616806|C04.588.945.947.535.585/616806|C04.700.900/616806|C12.050.351.937.820.535.585/616806|C12.050.351.968.419.473.585/616806|C12.200.758.820.750.585/616806|C12.200.777.419.473.585/616806|C12.900.820.535.585/616806|C12.950.419.473.585/616806|C12.950.983.535.585/616806|C16.320.700.900/616806 C04.557.435.595|C04.588.945.947.535.585|C04.700.900|C12.050.351.937.820.535.585|C12.050.351.968.419.473.585|C12.200.758.820.750.585|C12.200.777.419.473.585|C12.900.820.535.585|C12.950.419.473.585|C12.950.983.535.585|C16.320.700.900 WT6 Cancer|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Wilms tumor and radial bilateral aplasia MESH:C536707 MESH:D009396 C04.557.435.595/C536707|C04.588.945.947.535.585/C536707|C04.700.900/C536707|C12.050.351.937.820.535.585/C536707|C12.050.351.968.419.473.585/C536707|C12.200.758.820.750.585/C536707|C12.200.777.419.473.585/C536707|C12.900.820.535.585/C536707|C12.950.419.473.585/C536707|C12.950.983.535.585/C536707|C16.320.700.900/C536707 C04.557.435.595|C04.588.945.947.535.585|C04.700.900|C12.050.351.937.820.535.585|C12.050.351.968.419.473.585|C12.200.758.820.750.585|C12.200.777.419.473.585|C12.900.820.535.585|C12.950.419.473.585|C12.950.983.535.585|C16.320.700.900 Bilateral radial aplasia with Wilms tumor|Wilms tumor 5 Cancer|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male) Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome MESH:C567292 OMIM:612469 MESH:D009765|MESH:D017624 C04.557.435.595.950/C567292|C04.588.945.947.535.585.950/C567292|C04.700.900.950/C567292|C10.597.606.360.969/C567292|C11.250.060.950/C567292|C11.270.060.950/C567292|C11.941.375.060.950/C567292|C12.050.351.875.253.096.875/C567292|C12.050.351.937.820.535.585.950/C567292|C12.050.351.968.419.473.585.950/C567292|C12.200.706.316.096.875/C567292|C12.200.758.820.750.585.950/C567292|C12.200.777.419.473.585.950/C567292|C12.800.316.096.875/C567292|C12.900.820.535.585.950/C567292|C12.950.419.473.585.950/C567292|C12.950.983.535.585.950/C567292|C16.131.260.940/C567292|C16.131.384.079.950/C567292|C16.131.939.316.096.875/C567292|C16.320.180.940/C567292|C16.320.290.078.950/C567292|C16.320.700.900.950/C567292|C18.654.726.750.500/C567292|C19.391.119.096.875/C567292|C23.888.144.699.500/C567292 C04.557.435.595.950|C04.588.945.947.535.585.950|C04.700.900.950|C10.597.606.360.969|C11.250.060.950|C11.270.060.950|C11.941.375.060.950|C12.050.351.875.253.096.875|C12.050.351.937.820.535.585.950|C12.050.351.968.419.473.585.950|C12.200.706.316.096.875|C12.200.758.820.750.585.950|C12.200.777.419.473.585.950|C12.800.316.096.875|C12.900.820.535.585.950|C12.950.419.473.585.950|C12.950.983.535.585.950|C16.131.260.940|C16.131.384.079.950|C16.131.939.316.096.875|C16.320.180.940|C16.320.290.078.950|C16.320.700.900.950|C18.654.726.750.500|C19.391.119.096.875|C23.888.144.699.500 Chromosome 11p13-P12 Deletion Syndrome|WAGRO|WAGRO Syndrome|WAGR Syndrome With Obesity|WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, MENTAL RETARDATION, AND OBESITY SYNDROME Cancer|Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Nutrition disorder|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Wilson-Turner X-linked mental retardation syndrome MESH:C536708 OMIM:309585 MESH:D006177|MESH:D009765|MESH:D038901 C10.597.606.360.455/C536708|C16.320.322.500/C536708|C16.320.400.525/C536708|C17.800.090.875/C536708|C18.654.726.750.500/C536708|C23.888.144.699.500/C536708 C10.597.606.360.455|C16.320.322.500|C16.320.400.525|C17.800.090.875|C18.654.726.750.500|C23.888.144.699.500 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE|Mental retardation, X-linked, syndromic 6|Mental retardation, X-linked, with gynecomastia and obesity|MRXS6|MRXSWT|Wilson Turner mental retardation syndrome|WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME|WTS Genetic disease (inborn)|Nervous system disease|Nutrition disorder|Signs and symptoms|Skin disease Winchester syndrome MESH:C536709 DO:DOID:0080696|OMIM:277950 MESH:D000015|MESH:D003286|MESH:D003318|MESH:D006130|MESH:D010014|MESH:D010024 C05.116.198.579/C536709|C05.116.264.579/C536709|C05.550.323/C536709|C05.651.197/C536709|C11.204.299/C536709|C16.131.077/C536709|C18.452.104.579/C536709|C23.550.393/C536709 C05.116.198.579|C05.116.264.579|C05.550.323|C05.651.197|C11.204.299|C16.131.077|C18.452.104.579|C23.550.393 Winchester disease|Winchester-Grossman disease|Winchester-Grossman syndrome|WNCHRS Congenital abnormality|Eye disease|Metabolic disease|Musculoskeletal disease|Pathology (process) Winkelman Bethge Pfeiffer syndrome MESH:C536710 OMIM:221750 MESH:D004393|MESH:D006319 C05.116.099.343.445/C536710|C05.116.132.358/C536710|C09.218.458.341.887/C536710|C10.228.140.617.738.300.300/C536710|C10.597.751.418.341.887/C536710|C19.297.312/C536710|C19.700.482.311/C536710|C23.888.592.763.393.341.887/C536710 C05.116.099.343.445|C05.116.132.358|C09.218.458.341.887|C10.228.140.617.738.300.300|C10.597.751.418.341.887|C19.297.312|C19.700.482.311|C23.888.592.763.393.341.887 CPHD3|Deafness, Sensorineural, With Pituitary Dwarfism|Pituitary Hormone Deficiency, Combined, 3|Pituitary Hormone Deficiency, Combined, With Rigid Cervical Spine|Sensorineural deafness with Pituitary dwarfism Ear-nose-throat disease|Endocrine system disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms Winship Viljoen Leary syndrome MESH:C536711 MESH:D002311|MESH:D008607|MESH:D008831 C05.660.207.620/C536711|C10.500.507.400.500/C536711|C10.597.606.360/C536711|C14.280.195.160/C536711|C14.280.238.070/C536711|C16.131.621.207.620/C536711|C16.131.666.507.400.500/C536711|C16.320.488.750/C536711|C23.888.592.604.646/C536711|F03.625.539/C536711 C05.660.207.620|C10.500.507.400.500|C10.597.606.360|C14.280.195.160|C14.280.238.070|C16.131.621.207.620|C16.131.666.507.400.500|C16.320.488.750|C23.888.592.604.646|F03.625.539 Microcephaly cardiomyopathy|Microcephaly-Cardiomyopathy|Microcephaly-cardiomyopathy syndrome|Microcephaly with cardiomyopathy|Microcephaly with mental retardation and dilated cardiomyopathy|Severe microcephaly and self-limiting dilated cardiomyopathy|Severe microcephaly with mental retardation and dilated cardiomyopathy Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Winter Harding Hyde syndrome MESH:C536712 MESH:D000015|MESH:D003286|MESH:D019066|MESH:D054082 C05.550.323/C536712|C05.651.197/C536712|C10.500.507.450.499/C536712|C16.131.077/C536712|C16.131.666.507.450.499/C536712|C23.550.291.812/C536712 C05.550.323|C05.651.197|C10.500.507.450.499|C16.131.077|C16.131.666.507.450.499|C23.550.291.812 Pachygyria joint contractures facial abnormalities Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process) Winter Shortland Temple syndrome MESH:C536735 OMIM:601707 MESH:D012868|MESH:D013576|MESH:D019465 C05.116.099.370.894.819/C536735|C05.660.207/C536735|C05.660.585.800/C536735|C05.660.906.819/C536735|C16.131.621.207/C536735|C16.131.621.585.800/C536735|C16.131.621.906.819/C536735|C16.131.831/C536735|C17.800.804/C536735 C05.116.099.370.894.819|C05.660.207|C05.660.585.800|C05.660.906.819|C16.131.621.207|C16.131.621.585.800|C16.131.621.906.819|C16.131.831|C17.800.804 Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development|CRJS|Curry Jones syndrome|Curry-Jones Syndrome Congenital abnormality|Musculoskeletal disease|Skin disease Wis heavy-chain disease protein, human MESH:C483997 MESH:D006362 C15.378.147.780.490/C483997|C15.604.515.435/C483997|C20.683.780.490/C483997 C15.378.147.780.490|C15.604.515.435|C20.683.780.490 gamma 3 heavy-chain disease protein WIS, human|myeloma protein Wis, human|protein WIS, human Blood disease|Immune system disease|Lymphatic disease Wiskott-Aldrich Syndrome MESH:D014923 DO:DOID:9169|OMIM:301000|OMIM:614493 A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common. MESH:D000081207|MESH:D006474|MESH:D008231|MESH:D025861|MESH:D040181 C15.378.100.100.970|C15.378.463.960|C15.378.553.546.605.900|C16.320.099.970|C16.320.322.937|C16.320.798.875|C20.673.627.900|C20.673.795.875 C15.378.100.100|C15.378.463|C15.378.553.546.605|C16.320.099|C16.320.322|C16.320.798|C20.673.627|C20.673.795 Aldrich Syndrome|Eczema Thrombocytopenia Immunodeficiency Syndrome|Eczema-Thrombocytopenia-Immunodeficiency Syndrome|Eczema-Thrombocytopenia-Immunodeficiency Syndromes|Imd2|Immunodeficiency 2|Immunodeficiency 2s|WAS|WAS1|WAS2|WIP DEFICIENCY|WIPF1 DEFICIENCY|Wiskott Aldrich Syndrome|WISKOTT-ALDRICH SYNDROME 1|WISKOTT-ALDRICH SYNDROME 2|Wiskott Syndrome|Wiskott Syndromes Blood disease|Genetic disease (inborn)|Immune system disease Wiskott-Aldrich Syndrome, Autosomal Dominant Form MESH:C563431 MESH:D014923 C15.378.100.100.970/C563431|C15.378.463.960/C563431|C15.378.553.546.605.900/C563431|C16.320.099.970/C563431|C16.320.322.937/C563431|C16.320.798.875/C563431|C20.673.627.900/C563431|C20.673.795.875/C563431 C15.378.100.100.970|C15.378.463.960|C15.378.553.546.605.900|C16.320.099.970|C16.320.322.937|C16.320.798.875|C20.673.627.900|C20.673.795.875 Blood disease|Genetic disease (inborn)|Immune system disease Wissler's Syndrome MESH:D014924 DO:DOID:3047 A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate. MESH:D006967|MESH:D012213 C05.550.114.843.823|C05.799.825.823|C20.543.928 C05.550.114.843|C05.799.825|C20.543 Subsepsis Allergica|Subsepsis Hyperergica|Syndrome, Wissler-Fanconi|Syndrome, Wissler's|Wissler Fanconi Syndrome|Wissler-Fanconi Syndrome|Wisslers Syndrome|Wissler Syndrome Immune system disease|Musculoskeletal disease Witkop syndrome MESH:C536736 DO:DOID:6678|OMIM:189500 MESH:D000848|MESH:D009264 C07.650.800.100/C536736|C07.793.700.100/C536736|C16.131.850.800.100/C536736|C23.300.820/C536736 C07.650.800.100|C07.793.700.100|C16.131.850.800.100|C23.300.820 Dysplasia of nails with hypodontia|ECTD3|ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE|ECTODERMAL DYSPLASIA 3, WITKOP TYPE|Nail Dysplasia With Hypodontia|TNS|Tooth and nail syndrome|Tooth-And-Nail Syndrome Congenital abnormality|Mouth disease|Pathology (anatomical condition) WITTEVEEN-KOLK SYNDROME OMIM:613406 DO:DOID:0060395 MESH:C579849|MESH:D019465 C05.660.207/613406|C10.597.606.360/C579849/613406|C16.131.260/C579849/613406|C16.131.621.207/613406|C16.320.180/C579849/613406|C23.550.210.050.500.500/C579849/613406|C23.888.592.604.646/C579849/613406|F03.625.539/C579849/613406 C05.660.207|C10.597.606.360/C579849|C16.131.260/C579849|C16.131.621.207|C16.320.180/C579849|C23.550.210.050.500.500/C579849|C23.888.592.604.646/C579849|F03.625.539/C579849 CHROMOSOME 15q24 DELETION SYNDROME, INCLUDED|CHROMOSOME 15q24 DUPLICATION SYNDROME, INCLUDED|WITKOS Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Wittwer syndrome MESH:C536737 MESH:D004827|MESH:D006130|MESH:D038901|MESH:D054062 C09.218.458.341.186.500/C536737|C10.228.140.490/C536737|C10.597.606.360.455/C536737|C10.597.751.418.341.186.500/C536737|C10.597.751.941.162.625/C536737|C11.966.075.375/C536737|C16.131.077.299/C536737|C16.320.322.500/C536737|C16.320.400.525/C536737|C23.550.393/C536737|C23.888.592.763.393.341.186.500/C536737|C23.888.592.763.941.162.625/C536737 C09.218.458.341.186.500|C10.228.140.490|C10.597.606.360.455|C10.597.751.418.341.186.500|C10.597.751.941.162.625|C11.966.075.375|C16.131.077.299|C16.320.322.500|C16.320.400.525|C23.550.393|C23.888.592.763.393.341.186.500|C23.888.592.763.941.162.625 Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)|Signs and symptoms Wolcott-Rallison syndrome MESH:C536739 DO:DOID:0090060|OMIM:226980 MESH:D003922|MESH:D010009 C05.116.099.708/C536739|C16.320.728/C536739|C18.452.394.750.124/C536739|C19.246.267/C536739|C20.111.327/C536739 C05.116.099.708|C16.320.728|C18.452.394.750.124|C19.246.267|C20.111.327 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus|IDDM-MED syndrome|MED-IDDM syndrome|WOLCOTT-RALLISON SYNDROME Endocrine system disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Musculoskeletal disease Wolffian tumor MESH:C536741 DO:DOID:7514 MESH:D000236|MESH:D000291 C04.557.470.035/C536741|C12.050.351.500.056/C536741|C12.100.250.056/C536741 C04.557.470.035|C12.050.351.500.056|C12.100.250.056 FATWO Female adnexal tumor of probable Wolffian origin|Female adnexal tumor of probable Wolffian origin|Wolffian adenoma|Wolffian adnexal tumor Cancer|Urogenital disease (female) Wolff-Parkinson-White Syndrome MESH:D014927 DO:DOID:384|OMIM:194200 A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase. MESH:D006330|MESH:D011226 C14.280.067.780.977|C14.280.123.750.977|C16.131.240.400.980 C14.280.067.780|C14.280.123.750|C16.131.240.400 ACCESSORY ATRIOVENTRICULAR PATHWAYS, INCLUDED|Anomalous Ventricular Excitation Syndrome|Auriculoventricular Accessory Pathway Syndrome|False Bundle-Branch Block Syndrome|Syndrome, Wolff-Parkinson-White|Syndrome, Wolf-Parkinson-White|Syndrome, WPW|Ventricular Pre-Excitation with Arrhythmia|Wolff Parkinson White Syndrome|Wolf Parkinson White Syndrome|Wolf-Parkinson-White Syndrome|WPW|WPW Syndrome|WPW SYNDROME PREEXCITATION SYNDROME, INCLUDED Cardiovascular disease|Congenital abnormality Wolf-Hirschhorn Syndrome MESH:D054877 DO:DOID:0050460|OMIM:194190 A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as 'Greek helmet face' - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS. MESH:D000015|MESH:D025063 C16.131.077.944|C16.131.260.985|C16.320.180.985 C16.131.077|C16.131.260|C16.320.180 4p Deletion Syndrome|4p- Syndrome|4p Syndrome, Chromosome|4p Syndromes, Chromosome|CHROMOSOME 4p16.3 DELETION SYNDROME|Chromosome 4p Deletion Syndrome|Chromosome 4p Monosomy|Chromosome 4p Syndrome|Chromosome 4p Syndromes|Del(4p) Syndrome|Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation|Partial Monosomy 4p|Pitt Rogers Danks Syndrome|Pitt-Rogers-Danks Syndrome|Pitt Syndrome|Pitt Syndromes|PRDS|Syndrome, Chromosome 4p|Syndrome, Pitt|Syndrome, Pitt-Rogers-Danks|Syndromes, Chromosome 4p|Syndromes, Pitt|Syndrome, Wolf|Syndrome, Wolf-Hirchhorn|Syndrome, Wolf-Hirschhorn|WHS|WITTWER SYNDROME|Wolf Hirchhorn Syndrome|Wolf-Hirchhorn Syndrome|Wolf Hirschhorn Syndrome|Wolf Syndrome Congenital abnormality|Genetic disease (inborn) Wolfram-Like Syndrome, Autosomal Dominant MESH:C565631 OMIM:614296 MESH:D014929 C09.218.458.341.186.500.750/C565631|C10.292.700.225.500.980/C565631|C10.574.500.662.980/C565631|C10.597.751.418.341.186.500.750/C565631|C10.597.751.941.162.625.750/C565631|C11.270.564.980/C565631|C11.640.451.451.980/C565631|C11.966.075.375.750/C565631|C12.050.351.968.419.135.875/C565631|C12.200.777.419.135.875/C565631|C12.950.419.135.875/C565631|C16.131.077.299.750/C565631|C16.320.290.564.980/C565631|C16.320.400.630.980/C565631|C18.452.394.750.124.960/C565631|C19.246.267.960/C565631|C19.700.159.875/C565631 C09.218.458.341.186.500.750|C10.292.700.225.500.980|C10.574.500.662.980|C10.597.751.418.341.186.500.750|C10.597.751.941.162.625.750|C11.270.564.980|C11.640.451.451.980|C11.966.075.375.750|C12.050.351.968.419.135.875|C12.200.777.419.135.875|C12.950.419.135.875|C16.131.077.299.750|C16.320.290.564.980|C16.320.400.630.980|C18.452.394.750.124.960|C19.246.267.960|C19.700.159.875 HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION|WFSL Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Wolfram Syndrome MESH:D014929 DO:DOID:10632|OMIM:222300 A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein. MESH:D003919|MESH:D003922|MESH:D015418|MESH:D054062 C09.218.458.341.186.500.750|C10.292.700.225.500.980|C10.574.500.662.980|C10.597.751.418.341.186.500.750|C10.597.751.941.162.625.750|C11.270.564.980|C11.640.451.451.980|C11.966.075.375.750|C12.050.351.968.419.135.875|C12.200.777.419.135.875|C12.950.419.135.875|C16.131.077.299.750|C16.320.290.564.980|C16.320.400.630.980|C18.452.394.750.124.960|C19.246.267.960|C19.700.159.875 C09.218.458.341.186.500|C10.292.700.225.500|C10.574.500.662|C10.597.751.418.341.186.500|C10.597.751.941.162.625|C11.270.564|C11.640.451.451|C11.966.075.375|C12.050.351.968.419.135|C12.200.777.419.135|C12.950.419.135|C16.131.077.299|C16.320.290.564|C16.320.400.630|C18.452.394.750.124|C19.246.267|C19.700.159 Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness|Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness|DIDMOAD|DIDMOAD Syndrome|DIDMOADUD|Syndrome, Wolfram|WFS|WFS1|Wolfram Syndrome 1 Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Wolfram Syndrome 2 MESH:C565733 DO:DOID:0110630|OMIM:604928 MESH:D006319|MESH:D009896|MESH:D019588|MESH:D028361 C09.218.458.341.887/C565733|C10.292.700.225/C565733|C10.597.751.418.341.887/C565733|C11.640.451/C565733|C18.452.660/C565733|C23.888.069/C565733|C23.888.592.763.393.341.887/C565733 C09.218.458.341.887|C10.292.700.225|C10.597.751.418.341.887|C11.640.451|C18.452.660|C23.888.069|C23.888.592.763.393.341.887 WFS2 Ear-nose-throat disease|Eye disease|Metabolic disease|Nervous system disease|Signs and symptoms Wolfram Syndrome, Mitochondrial Form MESH:C564012 DO:DOID:0080583 MESH:D003919|MESH:D003920|MESH:D006319|MESH:D015418 C09.218.458.341.887/C564012|C10.292.700.225.500/C564012|C10.574.500.662/C564012|C10.597.751.418.341.887/C564012|C11.270.564/C564012|C11.640.451.451/C564012|C12.050.351.968.419.135/C564012|C12.200.777.419.135/C564012|C12.950.419.135/C564012|C16.320.290.564/C564012|C16.320.400.630/C564012|C18.452.394.750/C564012|C19.246/C564012|C19.700.159/C564012|C23.888.592.763.393.341.887/C564012 C09.218.458.341.887|C10.292.700.225.500|C10.574.500.662|C10.597.751.418.341.887|C11.270.564|C11.640.451.451|C12.050.351.968.419.135|C12.200.777.419.135|C12.950.419.135|C16.320.290.564|C16.320.400.630|C18.452.394.750|C19.246|C19.700.159|C23.888.592.763.393.341.887 Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness, Mitochondrial Form|DIDMOAD Syndrome, Mitochondrial Form Ear-nose-throat disease|Endocrine system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) Wolman Disease MESH:D015223 DO:DOID:14497 The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE. MESH:D007232|MESH:D015217 C16.320.565.398.641.201.500|C16.320.565.595.201.500|C16.614.947|C18.452.584.563.641.201.500|C18.452.648.398.641.201.500|C18.452.648.595.201.500 C16.320.565.398.641.201|C16.320.565.595.201|C16.614|C18.452.584.563.641.201|C18.452.648.398.641.201|C18.452.648.595.201 Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type|Acid Lipase Deficiency|Disease, Wolman|Disease, Wolman's|Familial Xanthomatoses|Familial Xanthomatosis|Liposomal Acid Lipase Deficiency, Wolman Type|Wolman's Disease|Wolmans Disease|Wolman's Xanthomatosis|Xanthomatoses, Familial|Xanthomatosis, Familial|Xanthomatosis, Wolman|Xanthomatosis, Wolman's|Xanthomatosis, Wolmans Genetic disease (inborn)|Infant-newborn disease|Metabolic disease Wolman Disease with Hypolipoproteinemia and Acanthocytosis MESH:C564736 DO:DOID:14497 MESH:D000012|MESH:D007009|MESH:D015223 C16.320.565.398.500.440.500/C564736|C16.320.565.398.500/C564736|C16.320.565.398.641.201.500/C564736|C16.320.565.595.201.500/C564736|C16.614.947/C564736|C18.452.584.500.875.440.500/C564736|C18.452.584.500.875/C564736|C18.452.584.563.500.440.500/C564736|C18.452.584.563.500/C564736|C18.452.584.563.641.201.500/C564736|C18.452.648.398.500.440.500/C564736|C18.452.648.398.500/C564736|C18.452.648.398.641.201.500/C564736|C18.452.648.595.201.500/C564736 C16.320.565.398.500|C16.320.565.398.500.440.500|C16.320.565.398.641.201.500|C16.320.565.595.201.500|C16.614.947|C18.452.584.500.875|C18.452.584.500.875.440.500|C18.452.584.563.500|C18.452.584.563.500.440.500|C18.452.584.563.641.201.500|C18.452.648.398.500|C18.452.648.398.500.440.500|C18.452.648.398.641.201.500|C18.452.648.595.201.500 Genetic disease (inborn)|Infant-newborn disease|Metabolic disease Woodhouse Sakati syndrome MESH:C536742 DO:DOID:0112264|OMIM:241080 MESH:D000505|MESH:D001145|MESH:D001480|MESH:D003920|MESH:D007006|MESH:D008607 C10.228.140.079/C536742|C10.597.606.360/C536742|C14.280.067/C536742|C17.800.329.937.122/C536742|C18.452.394.750/C536742|C19.246/C536742|C19.391.482/C536742|C23.300.035/C536742|C23.550.073/C536742|C23.888.592.604.646/C536742|F03.625.539/C536742 C10.228.140.079|C10.597.606.360|C14.280.067|C17.800.329.937.122|C18.452.394.750|C19.246|C19.391.482|C23.300.035|C23.550.073|C23.888.592.604.646|F03.625.539 Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, and Alopecia|Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome|HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME|WDSKS|Woodhouse-Sakati Syndrome Cardiovascular disease|Endocrine system disease|Mental disorder|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms|Skin disease Woods Black Norbury syndrome MESH:C536743 OMIM:300076 MESH:D053632 C16.320.322.968/C536743|C16.320.798.750.500/C536743|C16.614.815.500/C536743|C20.673.795.750.500/C536743 C16.320.322.968|C16.320.798.750.500|C16.614.815.500|C20.673.795.750.500 Immunoneurologic Disorder, X-Linked|Neonatal death immune deficiency|Woods-Black-Norbury Syndrome|X-linked immunoneurological disorder Genetic disease (inborn)|Immune system disease|Infant-newborn disease Woods Leversha Rogers syndrome MESH:C536744 MESH:D005317 C12.050.703.277.370/C536744|C16.300.390/C536744|C23.550.393.450/C536744 C12.050.703.277.370|C16.300.390|C23.550.393.450 Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity|Severe intrauterine growth retardation with increased mitomycin C sensitivity Fetal disease|Pathology (process)|Pregnancy complication WOOLLY HAIR, AUTOSOMAL DOMINANT OMIM:194300 DO:DOID:0111573 MESH:C536745 C17.800.329/C536745/194300 C17.800.329/C536745 ADWH Skin disease Woolly Hair, Autosomal Recessive MESH:C564735 OMIM:616760 MESH:D006201 C17.800.329/C564735 C17.800.329 ARWH3|WOOLLY HAIR, AUTOSOMAL RECESSIVE 3|WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS Skin disease Woolly hair, congenital MESH:C536745 MESH:D006201 C17.800.329/C536745 C17.800.329 Frizzy hair syndrome|Woolly hair syndrome Skin disease Woolly hair, hypotrichosis, everted lower lip and outstanding ears MESH:C536746 MESH:D000015|MESH:D000505 C16.131.077/C536746|C17.800.329.937.122/C536746|C23.300.035/C536746 C16.131.077|C17.800.329.937.122|C23.300.035 Salamon Syndrome|Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears Congenital abnormality|Pathology (anatomical condition)|Skin disease Worster Drought syndrome MESH:C536747 MESH:D004401|MESH:D008607|MESH:D010244|MESH:D013341 C04.557.645.375.850/C536747|C10.562.800/C536747|C10.574.562.300/C536747|C10.597.606.150.500.800.150.200/C536747|C10.597.606.360/C536747|C10.668.467.300/C536747|C14.907.077.850/C536747|C23.888.592.604.150.500.800.150.200/C536747|C23.888.592.604.646/C536747|F03.625.539/C536747 C04.557.645.375.850|C10.562.800|C10.574.562.300|C10.597.606.150.500.800.150.200|C10.597.606.360|C10.668.467.300|C14.907.077.850|C23.888.592.604.150.500.800.150.200|C23.888.592.604.646|F03.625.539 Congenital suprabulbar paresis|Suprabulbar paresis congenital|Suprabulbar Paresis, Congenital|Worster-Drought Syndrome Cancer|Cardiovascular disease|Mental disorder|Nervous system disease|Signs and symptoms Worth syndrome MESH:C536748 DO:DOID:0080037|OMIM:144750 MESH:D006958|MESH:D010022 C05.116.099.708.479/C536748|C05.116.099.708.702.678/C536748|C05.116.540.400/C536748|C16.614.465/C536748 C05.116.099.708.479|C05.116.099.708.702.678|C05.116.540.400|C16.614.465 Benign hyperostosis corticalis generalisata|Endosteal Hyperostosis, Autosomal Dominant|Endosteal hyperostosis Worth type|Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus|Hyperostosis corticalis generalisata congenita|Osteosclerosis, Autosomal Dominant|Osteosclerosis, autosomal dominant Worth type with torus palatinus Infant-newborn disease|Musculoskeletal disease Wound Infection MESH:D014946 Invasion of a wound by pathogenic microorganisms. MESH:D007239 C01.947 C01 Infections, Wound|Infection, Wound|Wound Infections Wounds and Injuries MESH:D014947 Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. MESH:C C26 C Injuries|Injuries and Wounds|Injuries, Research-Related|Injuries, Wounds|Injury|Injury and Wounds|Injury, Research-Related|Research Related Injuries|Research-Related Injuries|Research-Related Injury|Trauma|Traumas|Wound|Wounds|Wounds and Injury|Wounds, Injury Wounds and injuries Wounds, Gunshot MESH:D014948 Disruption of structural continuity of the body as a result of the discharge of firearms. MESH:D014950 C26.986.900 C26.986 Gunshot Wound|Gunshot Wounds|Wound, Gunshot Wounds and injuries Wounds, Nonpenetrating MESH:D014949 Injuries caused by impact with a blunt object where there is no penetration of the skin. MESH:D014947 C26.974 C26 Blunt Injuries|Blunt Injury|Injuries, Blunt|Injuries, Nonpenetrating|Injury, Blunt|Injury, Nonpenetrating|Nonpenetrating Injuries|Nonpenetrating Injury|Nonpenetrating Wound|Nonpenetrating Wounds|Wound, Nonpenetrating Wounds and injuries Wounds, Penetrating MESH:D014950 Wounds caused by objects penetrating the skin. MESH:D014947 C26.986 C26 Penetrating Wound|Penetrating Wounds|Wound, Penetrating Wounds and injuries Wounds, Stab MESH:D014951 Penetrating wounds caused by a pointed object. MESH:D014950 C26.986.950 C26.986 Stab Wound|Stab Wounds|Wound, Stab Wounds and injuries Wright Dyck syndrome MESH:C536749 MESH:D003638|MESH:D003704|MESH:D017880 C05.660.585/C536749|C09.218.458.341.186/C536749|C10.228.140.380/C536749|C10.597.751.418.341.186/C536749|C16.131.621.585/C536749|C23.888.592.763.393.341.186/C536749|F03.615.400/C536749 C05.660.585|C09.218.458.341.186|C10.228.140.380|C10.597.751.418.341.186|C16.131.621.585|C23.888.592.763.393.341.186|F03.615.400 Hearing loss ankle anomalies and neurological regression-dementia|Sensory neuropathy with deafness and dementia Congenital abnormality|Ear-nose-throat disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Wrinkly skin syndrome MESH:C536750 DO:DOID:0112171|OMIM:278250 MESH:D003483 C16.320.850.180/C536750|C17.300.230/C536750|C17.800.827.180/C536750 C16.320.850.180|C17.300.230|C17.800.827.180 WSS Connective tissue disease|Genetic disease (inborn)|Skin disease Wrist Fractures MESH:D000092503 Fractures of the CARPAL BONES, the distal ULNA and/or RADIUS at the WRIST. MESH:D014954|MESH:D050723 C26.088.906.500|C26.404.968 C26.088.906|C26.404 Distal Forearm Fracture|Distal Forearm Fractures|Distal Radius and Ulna Fractures|Distal Radius Fracture|Distal Radius Fractures|Distal Ulna and Radius Fractures|Distal Ulna Fracture|Distal Ulna Fractures|Forearm Fracture, Distal|Fracture, Distal Forearm|Fracture, Distal Radius|Fracture, Distal Ulna|Fracture, Radial Styloid|Fracture, Smith|Fracture, Wrist|Radial Styloid Fracture|Radial Styloid Fractures|Radius Fracture, Distal|Smith Fracture|Styloid Fracture, Radial|Ulna Fracture, Distal|Wrist Fracture Wounds and injuries Wrist Injuries MESH:D014954 Injuries to the wrist or the wrist joint. MESH:D001134 C26.088.906 C26.088 Injuries, Wrist|Injury, Wrist|Wrist Injury Wounds and injuries WT limb blood syndrome MESH:C536751 MESH:D000015|MESH:D000741|MESH:D007938 C04.557.337/C536751|C15.378.071.085/C536751|C15.378.190.223.250/C536751|C16.131.077/C536751 C04.557.337|C15.378.071.085|C15.378.190.223.250|C16.131.077 Radial-ulnar hypoplasia with bone marrow failure and-or leukemia|WT Limb-Blood Syndrome Blood disease|Cancer|Congenital abnormality Wyburn Mason's syndrome MESH:C536752 MESH:D001164|MESH:D020752 C10.562/C536752|C14.240.850.750.147/C536752|C14.240.850.984.750/C536752|C14.907.150.125/C536752|C14.907.933.555/C536752|C16.131.077.350.712/C536752|C16.131.240.850.750.125/C536752|C16.131.831.350.712/C536752|C16.320.850.250.712/C536752|C17.800.804.350.712/C536752|C17.800.827.250.712/C536752|C23.300.575.950.250/C536752 C10.562|C14.240.850.750.147|C14.240.850.984.750|C14.907.150.125|C14.907.933.555|C16.131.077.350.712|C16.131.240.850.750.125|C16.131.831.350.712|C16.320.850.250.712|C17.800.804.350.712|C17.800.827.250.712|C23.300.575.950.250 Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes|Wyburn Mason syndrome Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Skin disease Xanthinuria, Type I MESH:C562584 DO:DOID:0070452|OMIM:278300 MESH:D008661 C16.320.565/C562584|C18.452.648/C562584 C16.320.565|C18.452.648 XAN1|Xanthine Dehydrogenase Deficiency|Xanthine Oxidase Deficiency|XDH Deficiency Genetic disease (inborn)|Metabolic disease Xanthinuria, Type II MESH:C566358 DO:DOID:0070453|OMIM:603592 MESH:D011686 C16.320.565.798/C566358|C18.452.648.798/C566358 C16.320.565.798|C18.452.648.798 XAN2|Xanthine Dehydrogenase and Aldehyde Oxidase, Combined Deficiency of Genetic disease (inborn)|Metabolic disease Xanthogranuloma, Juvenile MESH:D014972 DO:DOID:4424 Benign disorder of infants and children caused by proliferation of HISTIOCYTES, macrophages found in tissues. These histiocytes, usually lipid-laden non-Langerhans cells, form multiple yellow-red nodules most often in the skin, the eye, and sometimes in the viscera. Patients appear to have normal lipid metabolism and are classified as a normolipemic non-Langerhans cell histiocytosis. MESH:D012871|MESH:D015616 C15.604.250.410.900|C17.800.973 C15.604.250.410|C17.800 Juvenile Xanthogranuloma|Juvenile Xanthogranulomas|Juvenile Xanthoma|Juvenile Xanthomas|Nevoxanthoendothelioma|Nevoxanthoendotheliomas|Xanthogranulomas, Juvenile|Xanthoma, Juvenile|Xanthomas, Juvenile Lymphatic disease|Skin disease Xanthogranulomatous cholecystitis MESH:C536762 DO:DOID:9766 MESH:D002764|MESH:D014973 C06.130.564.263/C536762|C18.452.584.750/C536762 C06.130.564.263|C18.452.584.750 Digestive system disease|Metabolic disease Xanthogranulomatous sialadenitis MESH:C536763 MESH:D006099|MESH:D010307|MESH:D012793|MESH:D014973 C04.588.443.591.824.695/C536763|C07.465.530.824.695/C536763|C07.465.815.470.770/C536763|C07.465.815.718.589/C536763|C07.465.815.793/C536763|C15.604.515.292/C536763|C18.452.584.750/C536763|C23.550.382/C536763 C04.588.443.591.824.695|C07.465.530.824.695|C07.465.815.470.770|C07.465.815.718.589|C07.465.815.793|C15.604.515.292|C18.452.584.750|C23.550.382 Sialadenitis, xanthogranulomatous Cancer|Lymphatic disease|Metabolic disease|Mouth disease|Pathology (process) Xanthomatosis MESH:D014973 DO:DOID:3345 A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS. MESH:D052439 C18.452.584.750 C18.452.584 Xanthoma|Xanthomas|Xanthomatoses Metabolic disease Xanthomatosis, Cerebrotendinous MESH:D019294 DO:DOID:4810|OMIM:213700 An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms. MESH:D008052|MESH:D014973 C16.320.565.398.925|C18.452.584.563.925|C18.452.584.750.975|C18.452.648.398.925 C16.320.565.398|C18.452.584.563|C18.452.584.750|C18.452.648.398 Bogaert-Scherer-Epstein Disease, Van|Cerebral Cholesterinoses|Cerebral Cholesterinosis|Cerebrotendinous Xanthomatoses|Cerebrotendinous Xanthomatosis|CTX|Disease, Van Bogaert-Scherer-Epstein|Van Bogaert Scherer Epstein Disease|Van Bogaert-Scherer-Epstein Disease|Xanthomatoses, Cerebrotendinous Genetic disease (inborn)|Metabolic disease X chromosome, duplication Xq13 1 q21 1 MESH:C536753 MESH:D012729|MESH:D014314 C23.550.210.050.750/C536753|C23.550.210.182.500/C536753|C23.550.210.815/C536753 C23.550.210.050.750|C23.550.210.182.500|C23.550.210.815 Duplication Xq13 1 q21 1|Trisomy Xq13 1 q21 1 Pathology (process) X chromosome, monosomy Xp22 pter MESH:C536754 MESH:D002872|MESH:D012729 C23.550.210.050.500.500/C536754|C23.550.210.815/C536754 C23.550.210.050.500.500|C23.550.210.815 Deletion Xp22 pter|Monosomy Xp22 pter Pathology (process) X chromosome, monosomy Xq28 MESH:C536755 MESH:D002872|MESH:D012729 C23.550.210.050.500.500/C536755|C23.550.210.815/C536755 C23.550.210.050.500.500|C23.550.210.815 Deletion Xq28|Monosomy Xq28 Pathology (process) X chromosome, trisomy Xp3 MESH:C536756 MESH:D012729|MESH:D014314 C23.550.210.050.750/C536756|C23.550.210.182.500/C536756|C23.550.210.815/C536756 C23.550.210.050.750|C23.550.210.182.500|C23.550.210.815 Duplication Xp3|Trisomy Xp3 Pathology (process) X chromosome, trisomy Xpter Xq13 MESH:C536731 MESH:D012729|MESH:D014314 C23.550.210.050.750/C536731|C23.550.210.182.500/C536731|C23.550.210.815/C536731 C23.550.210.050.750|C23.550.210.182.500|C23.550.210.815 Duplication Xpter Xq13|Trisomy Xpter Xq13 Pathology (process) X chromosome, trisomy Xq25 MESH:C536733 MESH:D012729|MESH:D014314 C23.550.210.050.750/C536733|C23.550.210.182.500/C536733|C23.550.210.815/C536733 C23.550.210.050.750|C23.550.210.182.500|C23.550.210.815 Duplication Xq25|Trisomy Xq25 Pathology (process) Xerocytosis, hereditary MESH:C536764 DO:DOID:0111575|OMIM:616689 MESH:D000745|MESH:D015160 C12.050.703.277.060.480/C536764|C15.378.071.141.150/C536764|C15.378.295.480/C536764|C15.378.420.826.100.350/C536764|C16.300.060.480/C536764|C16.320.070/C536764|C16.320.365.826.100.350/C536764|C20.306.480/C536764|C23.888.277.395/C536764 C12.050.703.277.060.480|C15.378.071.141.150|C15.378.295.480|C15.378.420.826.100.350|C16.300.060.480|C16.320.070|C16.320.365.826.100.350|C20.306.480|C23.888.277.395 Dehydrated hereditary stomatocytosis|DEHYDRATED HEREDITARY STOMATOCYTOSIS 2|Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis|DESICCYTOSIS GARDOS|Desiccytosis, hereditary|DHS2|Hereditary Xerocytosis|XEROCYTOSIS GARDOS Blood disease|Fetal disease|Genetic disease (inborn)|Immune system disease|Pregnancy complication|Signs and symptoms Xeroderma Pigmentosum MESH:D014983 DO:DOID:0050427|OMIM:278700 A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA. MESH:D010787|MESH:D010859|MESH:D011230|MESH:D012868|MESH:D012873|MESH:D049914 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 C04.834|C16.131.831|C16.320.850|C17.800.600|C17.800.621|C17.800.804|C17.800.827|C18.452.284 Kaposi Disease|Kaposi's Disease|Kaposis Disease|XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A|XERODERMA PIGMENTOSUM I|XP1|XPA|XP, GROUP A Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Xeroderma Pigmentosum, Autosomal Dominant, Mild MESH:C565989 MESH:D014983 C04.834.867/C565989|C16.131.831.936/C565989|C16.320.850.970/C565989|C17.800.600.925/C565989|C17.800.621.936/C565989|C17.800.804.936/C565989|C17.800.827.970/C565989|C18.452.284.975/C565989 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Xeroderma Pigmentosum B-Cockayne Syndrome MESH:C567061 MESH:D003057|MESH:D014983 C04.834.867/C567061|C05.116.099.343.250/C567061|C10.574.500.362/C567061|C16.131.077.250/C567061|C16.131.831.936/C567061|C16.320.240.562/C567061|C16.320.400.200/C567061|C16.320.850.970/C567061|C17.800.600.925/C567061|C17.800.621.936/C567061|C17.800.804.936/C567061|C17.800.827.970/C567061|C18.452.284.250/C567061|C18.452.284.975/C567061 C04.834.867|C05.116.099.343.250|C10.574.500.362|C16.131.077.250|C16.131.831.936|C16.320.240.562|C16.320.400.200|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.250|C18.452.284.975 Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Skin disease Xeroderma Pigmentosum, Complementation Group B MESH:C562590 OMIM:610651 MESH:D014983 C04.834.867/C562590|C16.131.831.936/C562590|C16.320.850.970/C562590|C17.800.600.925/C562590|C17.800.621.936/C562590|C17.800.804.936/C562590|C17.800.827.970/C562590|C18.452.284.975/C562590 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 Xeroderma Pigmentosum, Group B|XPB|XPB/CS, INCLUDED|XP, GROUP B;XPBC XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME, INCLUDED Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Xeroderma Pigmentosum, Complementation Group C MESH:C567886 OMIM:278720 MESH:D014983 C04.834.867/C567886|C16.131.831.936/C567886|C16.320.850.970/C567886|C17.800.600.925/C567886|C17.800.621.936/C567886|C17.800.804.936/C567886|C17.800.827.970/C567886|C18.452.284.975/C567886 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 Xeroderma Pigmentosum III|XP3|XPC|XPCC|XP, Group C Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Xeroderma Pigmentosum, Complementation Group D MESH:C562591 OMIM:278730 MESH:D014983 C04.834.867/C562591|C16.131.831.936/C562591|C16.320.850.970/C562591|C17.800.600.925/C562591|C17.800.621.936/C562591|C17.800.804.936/C562591|C17.800.827.970/C562591|C18.452.284.975/C562591 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 Xeroderma Pigmentosum IV|XP4|XP4 XERODERMA PIGMENTOSUM VIII, FORMERLY|XP8, FORMERLY|XPD|XPDC|XP, Group D|XP, GROUP H, FORMERLY|XPH, FORMERLY Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Xeroderma Pigmentosum, Complementation Group E MESH:C564732 OMIM:278740 MESH:D014983 C04.834.867/C564732|C16.131.831.936/C564732|C16.320.850.970/C564732|C17.800.600.925/C564732|C17.800.621.936/C564732|C17.800.804.936/C564732|C17.800.827.970/C564732|C18.452.284.975/C564732 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 Xeroderma Pigmentosum V|XP5|XPE|XP, Group E Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Xeroderma Pigmentosum, Complementation Group F MESH:C562592 OMIM:278760 MESH:D014983 C04.834.867/C562592|C16.131.831.936/C562592|C16.320.850.970/C562592|C17.800.600.925/C562592|C17.800.621.936/C562592|C17.800.804.936/C562592|C17.800.827.970/C562592|C18.452.284.975/C562592 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 Xeroderma Pigmentosum Vi|XERODERMA PIGMENTOSUM VI;XP6 XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, INCLUDED|XP6|XPF|XPF/CS, INCLUDED|XP, Group F Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Xeroderma Pigmentosum, Complementation Group G MESH:C562593 OMIM:278780 MESH:D014983 C04.834.867/C562593|C16.131.831.936/C562593|C16.320.850.970/C562593|C17.800.600.925/C562593|C17.800.621.936/C562593|C17.800.804.936/C562593|C17.800.827.970/C562593|C18.452.284.975/C562593 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 Xeroderma Pigmentosum VII|XERODERMA PIGMENTOSUM VII;XP7 XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED|XPG|XPGC|XPG/CS, INCLUDED|XP, GROUP G Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Xeroderma Pigmentosum IX MESH:C564731 MESH:D014983 C04.834.867/C564731|C16.131.831.936/C564731|C16.320.850.970/C564731|C17.800.600.925/C564731|C17.800.621.936/C564731|C17.800.804.936/C564731|C17.800.827.970/C564731|C18.452.284.975/C564731 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 Xeroderma Pigmentosum, Complementation Group I|XP9|XP, Group I Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Xeroderma pigmentosum, type 9 MESH:C536765 MESH:D014983 C04.834.867/C536765|C16.131.831.936/C536765|C16.320.850.970/C536765|C17.800.600.925/C536765|C17.800.621.936/C536765|C17.800.804.936/C536765|C17.800.827.970/C536765|C18.452.284.975/C536765 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 Xeroderma pigmentosum, complementation group 1 Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Xeroderma Pigmentosum, Type G-Cockayne Syndrome MESH:C566879 MESH:D003057|MESH:D014983 C04.834.867/C566879|C05.116.099.343.250/C566879|C10.574.500.362/C566879|C16.131.077.250/C566879|C16.131.831.936/C566879|C16.320.240.562/C566879|C16.320.400.200/C566879|C16.320.850.970/C566879|C17.800.600.925/C566879|C17.800.621.936/C566879|C17.800.804.936/C566879|C17.800.827.970/C566879|C18.452.284.250/C566879|C18.452.284.975/C566879 C04.834.867|C05.116.099.343.250|C10.574.500.362|C16.131.077.250|C16.131.831.936|C16.320.240.562|C16.320.400.200|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.250|C18.452.284.975 Xpg-Cs Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Skin disease Xeroderma pigmentosum, variant type MESH:C536766 DO:DOID:0110847|OMIM:278750 MESH:D014983 C04.834.867/C536766|C16.131.831.936/C536766|C16.320.850.970/C536766|C17.800.600.925/C536766|C17.800.621.936/C536766|C17.800.804.936/C536766|C17.800.827.970/C536766|C18.452.284.975/C536766 C04.834.867|C16.131.831.936|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.975 Photosensitivity with defective DNA synthesis|Xeroderma pigmentosum with normal DNA repair rates|XPV Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease Xerophthalmia MESH:D014985 DO:DOID:10138 Dryness of the eye surfaces caused by deficiency of tears or conjunctival secretions. It may be associated with vitamin A deficiency, trauma, or any condition in which the eyelids do not close completely. MESH:D003229|MESH:D015352 C11.187.810|C11.496.260.892 C11.187|C11.496.260 Xerophthalmias Eye disease Xerostomia MESH:D014987 Decreased salivary flow. MESH:D012466 C07.465.815.929 C07.465.815 Asialia|Asialias|Dryness, Mouth|Hyposalivation|Hyposalivations|Mouth Dryness|Xerostomias Mouth disease XFE Progeroid Syndrome MESH:C567043 DO:DOID:0060590|OMIM:610965 MESH:D003057|MESH:D014983 C04.834.867/C567043|C05.116.099.343.250/C567043|C10.574.500.362/C567043|C16.131.077.250/C567043|C16.131.831.936/C567043|C16.320.240.562/C567043|C16.320.400.200/C567043|C16.320.850.970/C567043|C17.800.600.925/C567043|C17.800.621.936/C567043|C17.800.804.936/C567043|C17.800.827.970/C567043|C18.452.284.250/C567043|C18.452.284.975/C567043 C04.834.867|C05.116.099.343.250|C10.574.500.362|C16.131.077.250|C16.131.831.936|C16.320.240.562|C16.320.400.200|C16.320.850.970|C17.800.600.925|C17.800.621.936|C17.800.804.936|C17.800.827.970|C18.452.284.250|C18.452.284.975 XFEPS|XPF-ERCC1 Progeroid Syndrome Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Skin disease XIA-GIBBS SYNDROME OMIM:615829 DO:DOID:0070055 MESH:D008607 C10.597.606.360/615829|C23.888.592.604.646/615829|F03.625.539/615829 C10.597.606.360|C23.888.592.604.646|F03.625.539 MENTAL RETARDATION, AUTOSOMAL DOMINANT 25, FORMERLY|MRD25, FORMERLY|XIGIS Mental disorder|Nervous system disease|Signs and symptoms X Inactivation, Familial Skewed, 1 MESH:C564716 OMIM:300087 MESH:D040181 C16.320.322/C564716 C16.320.322 SXI1 Genetic disease (inborn) X Inactivation, Familial Skewed, 2 MESH:C564572 MESH:D040181 C16.320.322/C564572 C16.320.322 Genetic disease (inborn) XK aprosencephaly MESH:C536767 MESH:D000015|MESH:D000757 C10.500.680.196/C536767|C16.131.077/C536767|C16.131.085.197/C536767|C16.131.666.680.196/C536767 C10.500.680.196|C16.131.077|C16.131.085.197|C16.131.666.680.196 Aprosencephaly-atelencephaly syndrome|Aprosencephaly syndrome|Garcia-Lurie syndrome|XK-aprosencephaly syndrome|XK syndrome Congenital abnormality|Nervous system disease X-Linked Chondrodysplasia Punctata 1 MESH:C580533 DO:DOID:0060292|OMIM:302950 MESH:D002806|MESH:D040181 C05.116.099.708.195/C580533|C16.320.322/C580533 C05.116.099.708.195|C16.320.322 Arylsulfatase E Deficiency|Cdpx1|CDXP1|Chondrodysplasia Punctata 1, X-Linked|Chondrodysplasia punctata 1, X-linked recessive|CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC|CPXR|X-Linked Recessive Chondrodysplasia Punctata 1 Genetic disease (inborn)|Musculoskeletal disease X-Linked Combined Immunodeficiency Diseases MESH:D053632 DO:DOID:0060013|OMIM:300400|OMIM:312863 Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified. MESH:D016511|MESH:D040181 C16.320.322.968|C16.320.798.750.500|C16.614.815.500|C20.673.795.750.500 C16.320.322|C16.320.798.750|C16.614.815|C20.673.795.750 CIDX|Combined Immunodeficiency, X Linked|Combined Immunodeficiency, X-Linked|IMD4|IMD6|Immunodeficiency 4|Immunodeficiency 6|Immunodeficiency Diseases, X-Linked|Immunodeficiency Diseases, X Linked Combined|Immunodeficiency Diseases, X-Linked Combined|Immunodeficiency Disease, X-Linked|Immunodeficiency Syndromes, X-Linked|Immunodeficiency Syndrome, X-Linked|Immunodeficiency, X-Linked Combined|SCIDs, X-Linked|SCIDX|SCIDX1|SCID, X Linked|SCID, X-Linked|Severe Combined Immunodeficiency, X Linked|Severe Combined Immunodeficiency, X-Linked|Severe Combined Immunodeficiency, X-Linked, T Cell Negative, B Cell Positive, NK Cell Negative|Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, NK Cell-Negative|XCID|X-Linked Combined Immunodeficiencies|X Linked Combined Immunodeficiency|X-Linked Combined Immunodeficiency|X Linked Combined Immunodeficiency Diseases|X Linked Immunodeficiency Disease|X-Linked Immunodeficiency Disease|X-Linked Immunodeficiency Diseases|X Linked Immunodeficiency Syndrome|X-Linked Immunodeficiency Syndrome|X-Linked Immunodeficiency Syndromes|X Linked SCID|X-Linked SCID|X-Linked SCIDs|X Linked Severe Combined Immunodeficiency|X-Linked Severe Combined Immunodeficiency|X-SCID|XSCID Genetic disease (inborn)|Immune system disease|Infant-newborn disease X-Linked Emery-Dreifuss Muscular Dystrophy MESH:D000083143 OMIM:300696 Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chromosome. MESH:D020389 C05.651.534.500.350.500|C10.668.491.175.500.350.500|C16.320.322.625.500|C16.320.577.350.500 C05.651.534.500.350|C10.668.491.175.500.350|C16.320.322.625|C16.320.577.350 Benign Scapuloperoneal Muscular Dystrophy with Early Contractures|EDMD1|EDMD6, INCLUDED|Emerinopathies|Emerinopathy|Emery Dreifuss Muscular Dystrophy 1|Emery Dreifuss Muscular Dystrophy, 1|Emery-Dreifuss Muscular Dystrophy 1|Emery-Dreifuss Muscular Dystrophy, 1|Emery Dreifuss Muscular Dystrophy 1, X Linked|Emery-Dreifuss Muscular Dystrophy 1, X-Linked|Emery Dreifuss Muscular Dystrophy 6|Emery-Dreifuss Muscular Dystrophy 6|Emery Dreifuss Muscular Dystrophy 6, X Linked|Emery-Dreifuss Muscular Dystrophy 6, X-Linked|EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, INCLUDED|Emery Dreifuss Muscular Dystrophy, X Linked|Emery-Dreifuss Muscular Dystrophy, X-Linked|Muscular Dystrophy, Emery-Dreifuss, X-Linked|Myopathy, X-Linked, With Postural Muscle Atrophy|Scapuloperoneal Syndrome, X Linked|Scapuloperoneal Syndrome, X-Linked|X Linked Emery Dreifuss Muscular Dystrophy|X-Linked Scapuloperoneal Syndrome|XMPMA Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease X-Linked Infantile Nystagmus MESH:C580539 MESH:D020417|MESH:D040181 C10.292.562.675.300/C580539|C11.590.400.300/C580539|C16.320.322/C580539|C16.614.643/C580539 C10.292.562.675.300|C11.590.400.300|C16.320.322|C16.614.643 Congenital Motor Nystagmus|Frmd7-Related Infantile Nystagmus|Idiopathic Infantile Nystagmus|Nys1|X-Linked Congenital Nystagmus|X-Linked Idiopathic Infantile Nystagmus Eye disease|Genetic disease (inborn)|Infant-newborn disease|Nervous system disease X-linked mental retardation Gustavson type MESH:C536759 OMIM:309555 MESH:D003638|MESH:D009896|MESH:D012640|MESH:D038901 C09.218.458.341.186/C536759|C10.292.700.225/C536759|C10.597.606.360.455/C536759|C10.597.742/C536759|C10.597.751.418.341.186/C536759|C11.640.451/C536759|C16.320.322.500/C536759|C16.320.400.525/C536759|C23.888.592.742/C536759|C23.888.592.763.393.341.186/C536759 C09.218.458.341.186|C10.292.700.225|C10.597.606.360.455|C10.597.742|C10.597.751.418.341.186|C11.640.451|C16.320.322.500|C16.320.400.525|C23.888.592.742|C23.888.592.763.393.341.186 GUST|Gustavson syndrome|Mental retardation with optic atrophy, deafness, and seizures|Mental retardation X-linked severe Gustavson type Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms X-linked mental retardation type Wittwer MESH:C536760 MESH:D038901 C10.597.606.360.455/C536760|C16.320.322.500/C536760|C16.320.400.525/C536760 C10.597.606.360.455|C16.320.322.500|C16.320.400.525 X-linked mental retardation syndrome, Wittwer tpe Genetic disease (inborn)|Nervous system disease X-linked sideroblastic anemia MESH:C536761 OMIM:300751 MESH:D000756|MESH:D040181 C15.378.071.419/C536761|C15.378.190.625.070/C536761|C16.320.322/C536761 C15.378.071.419|C15.378.190.625.070|C16.320.322 Anemia, Hereditary Sideroblastic|ANEMIA, HYPOCHROMIC|Anemia, Sex-Linked Hypochromic Sideroblastic|ANEMIA, SIDEROBLASTIC, 1|Anemia, Sideroblastic, X-Linked|ANH1|Congenital Sideroblastic Anaemia|Erythroid 5-Aminolevulinate Synthase Deficiency|Hereditary Iron-Loading Anemia|SIDBA1|X Chromosome-Linked Sideroblastic Anemia|X-Linked Pyridoxine-Responsive Sideroblastic Anemia|XLSA Blood disease|Genetic disease (inborn) X-linked tetra-amelia MESH:C536497 MESH:D004480|MESH:D040181 C05.660.585.350/C536497|C16.131.621.585.350/C536497|C16.320.322/C536497 C05.660.585.350|C16.131.621.585.350|C16.320.322 Tetra- amelia X-linked Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease Xylosidase Deficiency MESH:C564730 MESH:D002239 C16.320.565.202/C564730|C18.452.648.202/C564730 C16.320.565.202|C18.452.648.202 Genetic disease (inborn)|Metabolic disease XYY Karyotype MESH:D014997 Abnormal genetic constitution in males characterized by an extra Y chromosome. MESH:D012729|MESH:D059786 C23.550.210.024.500|C23.550.210.815.970 C23.550.210.024|C23.550.210.815 Karyotypes, XYY|Karyotype, XYY|XYY Karyotypes Pathology (process) Yang Deficiency MESH:D016711 In the YIN-YANG system of philosophy and medicine, a lack of vital energy (called yangxu in Chinese). It manifests itself in various systemic and organic diseases. (The Pinyin Chinese-English Dictionary, 1979) MESH:D010335 C23.550.945 C23.550 Deficiency, Yang|Hsu, Yang|Xu, Yang|Yang Hsu|Yangxu|Yang Xu Pathology (process) YAO SYNDROME OMIM:617321 MESH:D001168|MESH:D003872|MESH:D056660 C05.550.114/617321|C16.320.382/617321|C17.800.174/617321|C17.800.827.368/617321 C05.550.114|C16.320.382|C17.800.174|C17.800.827.368 YAOS Genetic disease (inborn)|Musculoskeletal disease|Skin disease Yaws MESH:D015001 DO:DOID:10371 A systemic non-venereal infection of the tropics caused by TREPONEMA PALLIDUM subspecies pertenue. MESH:D014211|MESH:D017192 C01.150.252.400.794.840.750|C01.150.252.400.840.750|C01.150.252.819.910|C01.800.720.910|C17.800.838.765.910 C01.150.252.400.794.840|C01.150.252.400.840|C01.150.252.819|C01.800.720|C17.800.838.765 Frambesia|Frambesias|Frambesia Tropica|Frambesia Tropicas Bacterial infection or mycosis|Skin disease Y Chromosome Infertility MESH:C580551 MESH:D053713 C12.100.500.430.380/C580551|C12.100.750.700.380/C580551|C12.200.294.430.380/C580551 C12.100.500.430.380|C12.100.750.700.380|C12.200.294.430.380 Y Chromosome-Related Azoospermia Urogenital disease (male) Yellow Fever MESH:D015004 DO:DOID:9682 An acute infectious disease primarily of the tropics, caused by a virus and transmitted to man by mosquitoes of the genera Aedes and Haemagogus. The severe form is characterized by fever, HEMOLYTIC JAUNDICE, and renal damage. MESH:D001102|MESH:D006482|MESH:D018177 C01.920.500.980|C01.925.081.980|C01.925.782.350.250.980|C01.925.782.417.881 C01.920.500|C01.925.081|C01.925.782.350.250|C01.925.782.417 Fevers, Yellow|Fever, Yellow|Yellow Fevers Viral disease Yellow Nail Syndrome MESH:D056684 DO:DOID:0050468|OMIM:153300 A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history. MESH:D009260|MESH:D009264|MESH:D010859|MESH:D030342 C16.320.962|C17.800.529.819|C17.800.621.968|C23.300.820.500 C16.320|C17.800.529|C17.800.621|C23.300.820 Lymphedema And Yellow Nails|Nail Syndromes, Yellow|Nail Syndrome, Yellow|Syndromes, Yellow Nail|Syndrome, Yellow Nail|Yellow Nail Syndromes|YNS Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease Yemenite deaf-blind hypopigmentation syndrome MESH:C536771 OMIM:601706 MESH:D000015|MESH:D001766|MESH:D003638|MESH:D017496 C09.218.458.341.186/C536771|C10.597.751.418.341.186/C536771|C10.597.751.941.162/C536771|C11.966.075/C536771|C16.131.077/C536771|C17.800.621.440/C536771|C23.888.592.763.393.341.186/C536771|C23.888.592.763.941.162/C536771 C09.218.458.341.186|C10.597.751.418.341.186|C10.597.751.941.162|C11.966.075|C16.131.077|C17.800.621.440|C23.888.592.763.393.341.186|C23.888.592.763.941.162 Warburg Thomsen syndrome|Yemenite (Warburg) deaf-blind hypopigmentation syndrome Congenital abnormality|Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms|Skin disease Yersinia Infections MESH:D015009 Infections with bacteria of the genus YERSINIA. MESH:D004756 C01.150.252.400.310.980 C01.150.252.400.310 Infections, Yersinia|Infection, Yersinia|Yersinia enterocolitica Infection|Yersinia enterocolitica Infections|Yersinia Infection|Yersinioses|Yersiniosis Bacterial infection or mycosis Yersinia pseudotuberculosis Infections MESH:D015012 Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS. MESH:D015009 C01.150.252.400.310.980.780 C01.150.252.400.310.980 Far East Scarlet like Fever|Far East Scarlet-like Fever|Infections, Yersinia pseudotuberculosis|Pasteurella Pseudotuberculoses|Pasteurella Pseudotuberculosis|Pseudotuberculoses, Pasteurella|Pseudotuberculosis, Pasteurella Bacterial infection or mycosis Yim Ebbin syndrome MESH:C536713 MESH:D000015|MESH:D002971|MESH:D002972|MESH:D003103|MESH:D004480|MESH:D006849 C05.500.460.185/C536713|C05.660.207.540.460.185/C536713|C05.660.585.350/C536713|C07.320.440.185/C536713|C07.465.409.225/C536713|C07.465.525.164/C536713|C07.465.525.185/C536713|C07.650.500.460.185/C536713|C07.650.525.164/C536713|C07.650.525.185/C536713|C10.228.140.602/C536713|C11.250.110/C536713|C11.270.147/C536713|C16.131.077/C536713|C16.131.384.282/C536713|C16.131.621.207.540.460.185/C536713|C16.131.621.585.350/C536713|C16.131.850.500.460.185/C536713|C16.131.850.525.164/C536713|C16.131.850.525.185/C536713 C05.500.460.185|C05.660.207.540.460.185|C05.660.585.350|C07.320.440.185|C07.465.409.225|C07.465.525.164|C07.465.525.185|C07.650.500.460.185|C07.650.525.164|C07.650.525.185|C10.228.140.602|C11.250.110|C11.270.147|C16.131.077|C16.131.384.282|C16.131.621.207.540.460.185|C16.131.621.585.350|C16.131.850.500.460.185|C16.131.850.525.164|C16.131.850.525.185 Amelia, cleft lip, palate, hydrocephalus, iris coloboma|Brachial amelia, forebrain defects and facial clefts|Brachial Amelia, Forebrain Defects, and Facial Clefts Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease Yin Deficiency MESH:D016710 In the YIN-YANG system of philosophy and medicine, an insufficiency of body fluid (called yinxu), manifesting often as irritability, thirst, constipation, etc. (The Pinyin Chinese-English Dictionary, 1979). MESH:D010335 C23.550.972 C23.550 Deficiency, Yin|Hsu, Yin|Xu, Yin|Yin Deficiencies|Yin Hsu|Yinxu|Yin Xu Pathology (process) Yorifuji Okuno syndrome MESH:C536714 MESH:D003920|MESH:D006331|MESH:D008607|MESH:D009393 C10.597.606.360/C536714|C12.050.351.968.419.570/C536714|C12.200.777.419.570/C536714|C12.950.419.570/C536714|C14.280/C536714|C18.452.394.750/C536714|C19.246/C536714|C23.888.592.604.646/C536714|F03.625.539/C536714 C10.597.606.360|C12.050.351.968.419.570|C12.200.777.419.570|C12.950.419.570|C14.280|C18.452.394.750|C19.246|C23.888.592.604.646|F03.625.539 Pancreatic hypoplasia diabetes heart disease Cardiovascular disease|Endocrine system disease|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male) YOU-HOOVER-FONG SYNDROME OMIM:616954 MESH:D002658|MESH:D008831|MESH:D009069 C05.660.207.620/616954|C10.228.662/616954|C10.500.507.400.500/616954|C16.131.621.207.620/616954|C16.131.666.507.400.500/616954|F03.625.421/616954 C05.660.207.620|C10.228.662|C10.500.507.400.500|C16.131.621.207.620|C16.131.666.507.400.500|F03.625.421 YHFS Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease Young Hughes syndrome MESH:C536715 MESH:D006130|MESH:D007006|MESH:D008607|MESH:D009765|MESH:D012729 C10.597.606.360/C536715|C18.654.726.750.500/C536715|C19.391.482/C536715|C23.550.210.815/C536715|C23.550.393/C536715|C23.888.144.699.500/C536715|C23.888.592.604.646/C536715|F03.625.539/C536715 C10.597.606.360|C18.654.726.750.500|C19.391.482|C23.550.210.815|C23.550.393|C23.888.144.699.500|C23.888.592.604.646|F03.625.539 Sex-linked mental retardation, short stature, obesity and hypogonadism Endocrine system disease|Mental disorder|Nervous system disease|Nutrition disorder|Pathology (process)|Signs and symptoms Young McKeever Squier syndrome MESH:C536716 DO:DOID:0060273 MESH:D009849 C10.177.575.550.375/C536716|C10.228.140.079.612.600/C536716|C10.228.140.252.700.650/C536716|C10.228.662.550.600/C536716|C10.228.854.787.750/C536716|C10.574.500.825.650/C536716|C16.320.400.780.750/C536716 C10.177.575.550.375|C10.228.140.079.612.600|C10.228.140.252.700.650|C10.228.662.550.600|C10.228.854.787.750|C10.574.500.825.650|C16.320.400.780.750 Encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia|Olivopontocerebellar hypoplasia lethal type|Pontocerebellar Hypoplasia Type 4 Genetic disease (inborn)|Nervous system disease Young Simpson syndrome MESH:C536717 DO:DOID:0060290|OMIM:603736 MESH:D003409|MESH:D006330|MESH:D007593|MESH:D008607|MESH:D016569|MESH:D019066 C05.116.099.343.347/C536717|C05.116.132.256/C536717|C05.550.521/C536717|C10.597.606.360/C536717|C11.250.090/C536717|C11.338.190/C536717|C14.240.400/C536717|C14.280.400/C536717|C16.131.240.400/C536717|C16.131.384.190/C536717|C16.320.240.625/C536717|C19.297.155/C536717|C19.874.482.281/C536717|C23.550.291.812/C536717|C23.888.592.604.646/C536717|F03.625.539/C536717 C05.116.099.343.347|C05.116.132.256|C05.550.521|C10.597.606.360|C11.250.090|C11.338.190|C14.240.400|C14.280.400|C16.131.240.400|C16.131.384.190|C16.320.240.625|C19.297.155|C19.874.482.281|C23.550.291.812|C23.888.592.604.646|F03.625.539 Blepharophimosis and Mental Retardation Syndrome, Say-Barber-Biesecker-Young-Simpson Type|Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber-Biesecker-Young-Simpson Type|Mental retardation unusual facies hypothyroidism|Ohdo Syndrome, Say-Barber-Biesecker Variant|Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant|Ohdo Syndrome, SBBYS Variant|Say-Barber-Biesecker-Young-Simpson Syndrome|Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome|SBBYSS|SBBYS Variant of Ohdo Syndrome|Young-Simpson Syndrome|YSS Cardiovascular disease|Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Young Syndrome MESH:C536718 MESH:D009845|MESH:D012141 C01.748/C536718|C08.730/C536718|C12.100.500.430.508/C536718|C12.100.750.700.508/C536718|C12.200.294.430.508/C536718 C01.748|C08.730|C12.100.500.430.508|C12.100.750.700.508|C12.200.294.430.508 Azoospermia, obstructive, and chronic sinopulmonary infections|Azoospermia sinopulmonary infections|Barry-Perkins-Young syndrome|Sinusitis-infertility syndrome Respiratory tract disease|Urogenital disease (male) Yunis Varon syndrome MESH:C536719 DO:DOID:0060589|OMIM:216340 MESH:D002973|MESH:D004476|MESH:D008844|MESH:D017880 C05.116.099.708.207/C536719|C05.500.460.457/C536719|C05.660.207.207/C536719|C05.660.207.540.460.457/C536719|C05.660.585/C536719|C07.320.440.457/C536719|C07.650.500.460.457/C536719|C16.131.077.350/C536719|C16.131.621.207.207/C536719|C16.131.621.207.540.460.457/C536719|C16.131.621.585/C536719|C16.131.831.350/C536719|C16.131.850.500.460.457/C536719|C16.320.850.250/C536719|C17.800.804.350/C536719|C17.800.827.250/C536719 C05.116.099.708.207|C05.500.460.457|C05.660.207.207|C05.660.207.540.460.457|C05.660.585|C07.320.440.457|C07.650.500.460.457|C16.131.077.350|C16.131.621.207.207|C16.131.621.207.540.460.457|C16.131.621.585|C16.131.831.350|C16.131.850.500.460.457|C16.320.850.250|C17.800.804.350|C17.800.827.250 Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia|Cleidocranial Dysplasia with Micrognathia, Absent Thumbs, and Distal Aphalangia|Yunis-Varon Syndrome|YVS Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Skin disease Yusho Disease MESH:C536720 MESH:D011164 C18.452.811/C536720 C18.452.811 Metabolic disease Zadik Barak Levin syndrome MESH:C536721 MESH:D000015|MESH:D000848|MESH:D002972|MESH:D003884|MESH:D007037 C04.182.201/C536721|C04.557.465.910.250/C536721|C05.500.460.185/C536721|C05.660.207.540.460.185/C536721|C07.320.440.185/C536721|C07.465.525.185/C536721|C07.650.500.460.185/C536721|C07.650.525.185/C536721|C07.650.800.100/C536721|C07.793.700.100/C536721|C16.131.077/C536721|C16.131.621.207.540.460.185/C536721|C16.131.850.500.460.185/C536721|C16.131.850.525.185/C536721|C16.131.850.800.100/C536721|C19.874.482/C536721 C04.182.201|C04.557.465.910.250|C05.500.460.185|C05.660.207.540.460.185|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C07.650.800.100|C07.793.700.100|C16.131.077|C16.131.621.207.540.460.185|C16.131.850.500.460.185|C16.131.850.525.185|C16.131.850.800.100|C19.874.482 Dermoid cysts, hypothyroidism, cleft palate, and hypodontia Cancer|Congenital abnormality|Endocrine system disease|Mouth disease|Musculoskeletal disease ZAP70 deficiency MESH:C536722 MESH:D016511 C16.320.798.750/C536722|C16.614.815/C536722|C18.452.284.800/C536722|C20.673.795.750/C536722 C16.320.798.750|C16.614.815|C18.452.284.800|C20.673.795.750 Selective T-Cell Defect|Zap70-Related Scid|Zap70-Related Severe Combined Immunodeficiency|Zeta-associated-protein 70 deficiency|Zeta-Associated Protein 70 Deficiency Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease Zazam Sheriff Phillips syndrome MESH:C536723 MESH:D004479|MESH:D008607|MESH:D014071|MESH:D015783 C07.650.800/C536723|C07.793.700/C536723|C10.597.606.360/C536723|C11.250.060/C536723|C11.250.300/C536723|C11.270.060/C536723|C11.510.598.373/C536723|C11.941.375.060/C536723|C16.131.384.079/C536723|C16.131.384.405/C536723|C16.131.850.800/C536723|C16.320.290.078/C536723|C23.888.592.604.646/C536723|F03.625.539/C536723 C07.650.800|C07.793.700|C10.597.606.360|C11.250.060|C11.250.300|C11.270.060|C11.510.598.373|C11.941.375.060|C16.131.384.079|C16.131.384.405|C16.131.850.800|C16.320.290.078|C23.888.592.604.646|F03.625.539 Aniridia, ectopia lentis, abnormal upper incisors and mental retardation|Aniridia, lens luxation, mental retardation Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Mouth disease|Nervous system disease|Signs and symptoms Zechi-Ceide Syndrome MESH:C567865 MESH:D000015|MESH:D004677|MESH:D005532|MESH:D008607|MESH:D019066 C05.330.495/C567865|C05.660.585.512.380/C567865|C10.500.680.488/C567865|C10.597.606.360/C567865|C16.131.077/C567865|C16.131.621.585.512.500/C567865|C16.131.666.680.488/C567865|C23.300.707.186/C567865|C23.550.291.812/C567865|C23.888.592.604.646/C567865|F03.625.539/C567865 C05.330.495|C05.660.585.512.380|C10.500.680.488|C10.597.606.360|C16.131.077|C16.131.621.585.512.500|C16.131.666.680.488|C23.300.707.186|C23.550.291.812|C23.888.592.604.646|F03.625.539 Occipital Atretic Cephalocele, Unusual Facies, and Large Feet Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms Zellweger leukodystrophy MESH:C531857 MESH:D015211 C06.552.970/C531857|C10.228.140.163.100.968/C531857|C12.050.351.968.419.978/C531857|C12.200.777.419.978/C531857|C12.950.419.978/C531857|C16.131.077.970/C531857|C16.320.565.189.968/C531857|C16.320.565.663.970/C531857|C18.452.132.100.968/C531857|C18.452.648.189.968/C531857|C18.452.648.663.970/C531857 C06.552.970|C10.228.140.163.100.968|C12.050.351.968.419.978|C12.200.777.419.978|C12.950.419.978|C16.131.077.970|C16.320.565.189.968|C16.320.565.663.970|C18.452.132.100.968|C18.452.648.189.968|C18.452.648.663.970 Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Zellweger Syndrome MESH:D015211 DO:DOID:905|OMIM:214100 An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis. MESH:D000015|MESH:D007674|MESH:D008107|MESH:D018901|MESH:D020739 C06.552.970|C10.228.140.163.100.968|C12.050.351.968.419.978|C12.200.777.419.978|C12.950.419.978|C16.131.077.970|C16.320.565.189.968|C16.320.565.663.970|C18.452.132.100.968|C18.452.648.189.968|C18.452.648.663.970 C06.552|C10.228.140.163.100|C12.050.351.968.419|C12.200.777.419|C12.950.419|C16.131.077|C16.320.565.189|C16.320.565.663|C18.452.132.100|C18.452.648.189|C18.452.648.663 Cerebrohepatorenal Syndrome|Cerebro Hepato Renal Syndrome|Cerebro-Hepato-Renal Syndrome|CEREBROHEPATORENAL SYNDROME;CHR PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED|CG1, INCLUDED|CGE, INCLUDED|PBD1A|PBD, ZSS|PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)|PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E, INCLUDED|Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum|Spectrum, Zellweger|Zellweger Disease|Zellweger Like Syndrome|Zellweger-Like Syndrome|Zellweger Spectrum|Zellweger's Syndrome|Zellweger Syndrome Spectrum|ZS|ZWS Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) Zenker Diverticulum MESH:D016672 A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus. MESH:D004936 C06.405.205.282.750.625.900|C23.300.415.625.900 C06.405.205.282.750.625|C23.300.415.625 Diverticula, Esophago-Pharyngeal|Diverticula, Pharyngeal|Diverticula, Pharyngoesophageal|Diverticula, Pharyngo-Esophageal|Diverticula, Pharyngoesophageal Pulsion|Diverticula, Zenker's|Diverticulum, Esophagopharyngeal|Diverticulum, Esophago-Pharyngeal|Diverticulum, Pharyngeal|Diverticulum, Pharyngoesophageal|Diverticulum, Pharyngo-Esophageal|Diverticulum, Pharyngoesophageal Pulsion|Diverticulums, Esophagopharyngeal|Diverticulum, Zenker|Diverticulum, Zenker's|Esophago Pharyngeal Diverticula|Esophago-Pharyngeal Diverticula|Esophagopharyngeal Diverticulum|Esophago Pharyngeal Diverticulum|Esophago-Pharyngeal Diverticulum|Esophagopharyngeal Diverticulums|Pharyngeal Diverticula|Pharyngeal Diverticulum|Pharyngoesophageal Diverticula|Pharyngo Esophageal Diverticula|Pharyngo-Esophageal Diverticula|Pharyngoesophageal Diverticulum|Pharyngo Esophageal Diverticulum|Pharyngo-Esophageal Diverticulum|Pharyngoesophageal Pulsion Diverticula|Pharyngoesophageal Pulsion Diverticulum|Pulsion Diverticula, Pharyngoesophageal|Pulsion Diverticulum, Pharyngoesophageal|Zenker Diverticula|Zenker's Diverticula|Zenkers Diverticula|Zenker's Diverticulum|Zenkers Diverticulum Digestive system disease|Pathology (anatomical condition) Zerres Rietschel Majewski syndrome MESH:C536724 MESH:D006130|MESH:D008607|MESH:D008831|MESH:D013576 C05.116.099.370.894.819/C536724|C05.660.207.620/C536724|C05.660.585.800/C536724|C05.660.906.819/C536724|C10.500.507.400.500/C536724|C10.597.606.360/C536724|C16.131.621.207.620/C536724|C16.131.621.585.800/C536724|C16.131.621.906.819/C536724|C16.131.666.507.400.500/C536724|C23.550.393/C536724|C23.888.592.604.646/C536724|F03.625.539/C536724 C05.116.099.370.894.819|C05.660.207.620|C05.660.585.800|C05.660.906.819|C10.500.507.400.500|C10.597.606.360|C16.131.621.207.620|C16.131.621.585.800|C16.131.621.906.819|C16.131.666.507.400.500|C23.550.393|C23.888.592.604.646|F03.625.539 Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms Zika Virus Infection MESH:D000071243 DO:DOID:0060478 A viral disease transmitted by the bite of AEDES mosquitoes infected with ZIKA VIRUS. Its mild DENGUE-like symptoms include fever, rash, headaches and ARTHRALGIA. The viral infection during pregnancy, in rare cases, is associated with congenital brain and ocular abnormalities, called Congenital Zika Syndrome, including MICROCEPHALY and may also lead to GUILLAIN-BARRE SYNDROME. MESH:D001102|MESH:D018177 C01.920.500.990|C01.925.081.990|C01.925.782.350.250.990 C01.920.500|C01.925.081|C01.925.782.350.250 Congenital Zika Syndrome|Congenital Zika Virus Infection|Disease, Zika Virus|Fever, Zika|Infection, Zika Virus|Infection, ZikV|Virus Disease, Zika|Virus Infection, Zika|Zika Fever|Zika Virus Disease|ZikV Infection Viral disease Zimmerman Laband syndrome MESH:C536725 OMIM:135500|OMIM:616455 MESH:D000015|MESH:D005351|MESH:D006228|MESH:D019465 C05.390.408/C536725|C05.660.207/C536725|C05.660.585.988.425/C536725|C07.465.525.304/C536725|C07.465.714.258.428.200/C536725|C07.650.525.304/C536725|C16.131.077/C536725|C16.131.621.207/C536725|C16.131.621.585.988.500/C536725|C16.131.850.525.304/C536725 C05.390.408|C05.660.207|C05.660.585.988.425|C07.465.525.304|C07.465.714.258.428.200|C07.650.525.304|C16.131.077|C16.131.621.207|C16.131.621.585.988.500|C16.131.850.525.304 Fibromatosis, Gingival, With Abnormal Fingers, Fingernails, Nose And Ears, And Splenomegaly|FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE, AND EARS, AND SPLENOMEGALY|Laband syndrome|Zimmermann-Laband Syndrome|ZIMMERMANN-LABAND SYNDROME 1|ZIMMERMANN-LABAND SYNDROME 2|ZLS1|ZLS2 Congenital abnormality|Mouth disease|Musculoskeletal disease Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc MESH:C564286 OMIM:608118 MESH:D006130 C23.550.393/C564286 C23.550.393 TNZD|ZINC DEFICIENCY, NEONATAL, DUE TO LOW BREAST MILK ZINC ZINC IN BREAST MILK, REDUCED, INCLUDED|ZINC DEFICIENCY, TRANSIENT NEONATAL Pathology (process) ZINC, ELEVATED PLASMA OMIM:194470 MESH:D008664 C16.320.565.618/194470|C18.452.648.618/194470 C16.320.565.618|C18.452.648.618 ALBUMIN BINDING OF ZINC, ELEVATED|HYPERZINCEMIA, FAMILIAL DYSALBUMINEMIC HYPERZINCEMIA AND HYPERCALPROTECTINEMIA, INCLUDED Genetic disease (inborn)|Metabolic disease Zlotogora-Ogur syndrome MESH:C536726 OMIM:225060 MESH:D002972|MESH:D004476|MESH:D008607|MESH:D013576 C05.116.099.370.894.819/C536726|C05.500.460.185/C536726|C05.660.207.540.460.185/C536726|C05.660.585.800/C536726|C05.660.906.819/C536726|C07.320.440.185/C536726|C07.465.525.185/C536726|C07.650.500.460.185/C536726|C07.650.525.185/C536726|C10.597.606.360/C536726|C16.131.077.350/C536726|C16.131.621.207.540.460.185/C536726|C16.131.621.585.800/C536726|C16.131.621.906.819/C536726|C16.131.831.350/C536726|C16.131.850.500.460.185/C536726|C16.131.850.525.185/C536726|C16.320.850.250/C536726|C17.800.804.350/C536726|C17.800.827.250/C536726|C23.888.592.604.646/C536726|F03.625.539/C536726 C05.116.099.370.894.819|C05.500.460.185|C05.660.207.540.460.185|C05.660.585.800|C05.660.906.819|C07.320.440.185|C07.465.525.185|C07.650.500.460.185|C07.650.525.185|C10.597.606.360|C16.131.077.350|C16.131.621.207.540.460.185|C16.131.621.585.800|C16.131.621.906.819|C16.131.831.350|C16.131.850.500.460.185|C16.131.850.525.185|C16.320.850.250|C17.800.804.350|C17.800.827.250|C23.888.592.604.646|F03.625.539 Autosomal recessive ectodermal dysplasia|Bustos Simosa Pinto Cisternas syndrome|Cleft lip-palate-ectodermal dysplasia syndrome|CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME|CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7, INCLUDED|CLPED1|Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly|ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY OROFACIAL CLEFT 7, INCLUDED|Ectodermal dysplasia Margarita island type|Ectodermal Dysplasia, Margarita Island Type|Ectodermal dysplasia type 4|Ectodermal Dysplasia, Type 4|ED4|OFC7, INCLUDED|ZLOTOGORA-OGUR SYNDROME Congenital abnormality|Genetic disease (inborn)|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease Zollinger-Ellison Syndrome MESH:D015043 DO:DOID:0050782 A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1. MESH:D005770|MESH:D007410|MESH:D009384|MESH:D010437|MESH:D013272 C04.730.713.988|C06.301.371.883|C06.405.249.883|C06.405.469.275.800.924|C06.405.469.965|C06.405.748.586.924|C06.405.748.947 C04.730.713|C06.301.371|C06.405.249|C06.405.469|C06.405.469.275.800|C06.405.748|C06.405.748.586 Syndrome, Zollinger-Ellison|Zollinger Ellison Syndrome Cancer|Digestive system disease Zonular cataract and nystagmus MESH:C536727 MESH:D002386|MESH:D009759 C10.292.562.675/C536727|C11.510.245/C536727|C11.590.400/C536727 C10.292.562.675|C11.510.245|C11.590.400 Nystagmus with congenital zonular cataract Eye disease|Nervous system disease Zoonoses MESH:D015047 Diseases of non-human animals that may be transmitted to HUMANS or may be transmitted from humans to non-human animals. MESH:D000820|MESH:D007239 C01.973|C22.969 C01|C22 Diseases, Zoonotic|Diseases, Zoonotic Infectious|Disease, Zoonotic|Disease, Zoonotic Infectious|Infections, Zoonotic|Infection, Zoonotic|Infectious Diseases, Zoonotic|Infectious Disease, Zoonotic|Spillovers, Zoonotic|Zoonotic Disease|Zoonotic Diseases|Zoonotic Infection|Zoonotic Infections|Zoonotic Infectious Disease|Zoonotic Infectious Diseases|Zoonotic Spillover|Zoonotic Spillovers Animal disease Zoophobia MESH:C000719220 DO:DOID:600 MESH:D010698 F03.080.725/C000719220 F03.080.725 Ailurophobia|Cynophobia|Elurophobia|Equinophobia|Fear of animals|Fear of birds|Fear of cats|Fear of dogs|Fear of horses|Ornithophobia|Phobia, animals|Phobia, birds|Phobia, cats|Phobia, dogs|Phobia, horses Mental disorder Zori Stalker Williams syndrome MESH:C536728 MESH:D005660|MESH:D009264|MESH:D058627 C05.116.099.386/C536728|C05.660.207.536/C536728|C05.660.386/C536728|C10.500.507.400.249/C536728|C16.131.621.207.532/C536728|C16.131.621.386/C536728|C16.131.666.507.400.249/C536728|C23.300.820/C536728 C05.116.099.386|C05.660.207.536|C05.660.386|C10.500.507.400.249|C16.131.621.207.532|C16.131.621.386|C16.131.666.507.400.249|C23.300.820 Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails|Pectus excavatum, macrocephaly and dysplastic nails Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition) Zoster Sine Herpete MESH:D031368 HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult. MESH:D006562 C01.925.256.466.930.750.970 C01.925.256.466.930.750 Zoster Sine Eruptione Viral disease ZTTK SYNDROME OMIM:617140 MESH:D000015|MESH:D008607|MESH:D009139|MESH:D011596 C05.660/617140|C10.597.606.360/617140|C10.597.606.881/617140|C16.131.077/617140|C16.131.621/617140|C23.888.592.604.646/617140|C23.888.592.604.882/617140|F03.625.539/617140 C05.660|C10.597.606.360|C10.597.606.881|C16.131.077|C16.131.621|C23.888.592.604.646|C23.888.592.604.882|F03.625.539 ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME|ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME|ZTTKS Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms Zunich neuroectodermal syndrome MESH:C536729 DO:DOID:0112152|OMIM:280000 MESH:D003103|MESH:D006314|MESH:D006330|MESH:D007057|MESH:D008607|MESH:D020752 C09.218.458.341.562/C536729|C10.562/C536729|C10.597.606.360/C536729|C10.597.751.418.341.562/C536729|C11.250.110/C536729|C11.270.147/C536729|C14.240.400/C536729|C14.280.400/C536729|C16.131.077.350.712/C536729|C16.131.240.400/C536729|C16.131.384.282/C536729|C16.131.831.350.712/C536729|C16.131.831.512/C536729|C16.320.850.250.712/C536729|C16.614.492/C536729|C17.800.428.333/C536729|C17.800.804.350.712/C536729|C17.800.804.512/C536729|C17.800.827.250.712/C536729|C23.888.592.604.646/C536729|C23.888.592.763.393.341.562/C536729|F03.625.539/C536729 C09.218.458.341.562|C10.562|C10.597.606.360|C10.597.751.418.341.562|C11.250.110|C11.270.147|C14.240.400|C14.280.400|C16.131.077.350.712|C16.131.240.400|C16.131.384.282|C16.131.831.350.712|C16.131.831.512|C16.320.850.250.712|C16.614.492|C17.800.428.333|C17.800.804.350.712|C17.800.804.512|C17.800.827.250.712|C23.888.592.604.646|C23.888.592.763.393.341.562|F03.625.539 CHIME|CHIME syndrome|COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND EAR ANOMALIES SYNDROME|COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME|GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5|GPIBD5|ZUNICH NEUROECTODERMAL SYNDROME Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Infant-newborn disease|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease Zuska's Disease MESH:C536730 MESH:D000038|MESH:D001941|MESH:D005402 C01.830.025/C536730|C17.800.090/C536730|C23.300.575/C536730|C23.550.470.756.100/C536730 C01.830.025|C17.800.090|C23.300.575|C23.550.470.756.100 Lactation and squamous metaplasia of lactiferous ducts|Lactiferous fistula|Zuska disease Pathology (anatomical condition)|Pathology (process)|Skin disease Zygodactyly 1 MESH:C565223 DO:DOID:0111820|OMIM:609815 MESH:D013576 C05.116.099.370.894.819/C565223|C05.660.585.800/C565223|C05.660.906.819/C565223|C16.131.621.585.800/C565223|C16.131.621.906.819/C565223 C05.116.099.370.894.819|C05.660.585.800|C05.660.906.819|C16.131.621.585.800|C16.131.621.906.819 ZD1 Congenital abnormality|Musculoskeletal disease Zygomatic Fractures MESH:D015051 Fractures of the zygoma. MESH:D008446|MESH:D012887 C10.900.300.284.500.950|C26.404.750.959|C26.915.300.425.500.950 C10.900.300.284.500|C26.404.750|C26.915.300.425.500 Fractures, Zygomatic|Fracture, Zygomatic|Zygomatic Fracture Nervous system disease|Wounds and injuries Zygomycosis MESH:D020096 Infection in humans and animals caused by fungi in the class Zygomycetes. It includes MUCORMYCOSIS and entomophthoramycosis. The latter is a tropical infection of subcutaneous tissue or paranasal sinuses caused by fungi in the order Entomophthorales. Phycomycosis, closely related to zygomycosis, describes infection with members of Phycomycetes, an obsolete classification. MESH:D009181 C01.150.703.980 C01.150.703 Entomophthoramycoses|Entomophthoramycosis|Phycomycoses|Phycomycosis|Zygomycoses Bacterial infection or mycosis